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Aging - Envejecimiento

TÍTULO / TITLE:   - Sex-Specific Regulation of Secretase: A Novel Estrogen Response Element (ERE)-Dependent Mechanism in Alzheimers Disease

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REVISTA / JOURNAL:    - Journal of Neuroscience 9 February 2022, 42 (6) 1154-1165; DOI: https://doi.org/10.1523/JNEUROSCI.08

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AUTORES / AUTHORS: - Jie Cui, Ghania Ait-Ghezala, Kumar Sambamurti, Feng Gao, Yong Shen and Rena Li

INSTITUCIÓN / INSTITUTION: - Roskamp Institute, Sarasota, Florida 34243. 

RESUMEN / SUMMARY: - Women have a higher prevalence and incidence of Alzheimer´s disease (AD) than age-matched men, and loss of estrogen might be partially responsible for the higher risk of AD in aged women. While β secretase (BACE1) plays an important role in AD pathogenesis, whether BACE1 involved the sex difference in AD pathology remains unclear. This study investigated the hypothesis that estrogen regulates BACE1 transcription via the estrogen response element (ERE) and designated pathways. Using estrogen receptor (ER) knock-out mice and mutagenesis of EREs in HEK293 cells, we demonstrated sex-specific inhibition of BACE1 transcription by estrogen via direct binding to ERE sites and ERα. We also used a repressor of estrogen receptor activity (REA) and showed that an REA ERE complex downregulated BACE1. A chromatin immunoprecipitation assay analysis determined that all three EREs at the BACE1 promoter were required for estradiol-mediated downregulation of BACE1 transcription in mice. Last, we confirmed the impairment of the REA pathway in the cortex of female AD patients. Our study identified an estrogen-specific BACE1 transcriptional regulation pathway from cell and animal models to AD patients.

TÍTULO / TITLE:   - White matter microstructure associations to amyloid burden in adults with Down syndrome

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REVISTA / JOURNAL:    - Neuroimage Clin.2022;33:102908. doi: 10.1016/j.nicl.2021.102908.Epub 2021 Dec 10. Free PMC articl

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AUTORES / AUTHORS: - Austin M Bazydlo,Matthew D Zammit,Minjie Wu,Patrick J Lao,Douglas C Dean 3rd,Sterling C Johnson

INSTITUCIÓN / INSTITUTION: - School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.  

RESUMEN / SUMMARY: - Introduction:Individuals with Down syndrome (DS) are at an increased risk of developing Alzheimers Disease (AD). One of the early underlying mechanisms in AD pathology is the accumulation of amyloid protein plaques, which are deposited in extracellular gray matter and signify the first stage in the cascade of neurodegenerative events. AD-related neurodegeneration is also evidenced as microstructural changes in white matter. In this work, we explored the correlation of white matter microstructure with amyloid load to assess amyloid-related neurodegeneration in a cohort of adults with DS. Methods:In this study of 96 adults with DS, the relation of white matter microstructure using diffusion tensor imaging (DTI) and amyloid plaque burden using [11C]PiB PET were examined. The amyloid load (AβL) derived from [11C]PiB was used as a global measure of amyloid burden. AβLand DTI measures were compared using tract-based spatial statistics (TBSS) and corrected for imaging site and chronological age. Results:TBSS of the DTI maps showed widespread age-by-amyloid interaction with both fractional anisotropy (FA) and mean diffusivity (MD). Further, diffuse negative association of FA and positive association of MD with amyloid were observed. Discussion:These findings are consistent with the white matter microstructural changes associated with AD disease progression in late onset AD in non-DS populations.

TÍTULO / TITLE:   - The Ups and Downs of Amyloid in Alzheimers

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REVISTA / JOURNAL:    - J Prev Alzheimers Dis.2022;9(1):92-95. doi: 10.14283/jpad.2021.54.

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AUTORES / AUTHORS: - E Siemers,P S Aisen,M C Carrillo

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RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Perceptual similarity effect in people with Down syndrome

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REVISTA / JOURNAL:    - Int J Dev Disabil. 2020 Mar 11;68(2):182-189. doi: 10.1080/20473869.2020.1729016. eCollection 2022.

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AUTORES / AUTHORS: - Julia B Barron-Martinez 1, Natalia Arias-Trejo

INSTITUCIÓN / INSTITUTION: - Faculty of Psychology, National Autonomous University of Mexico, Mexico City, Mexico. 

RESUMEN / SUMMARY: - Background The perceptual similarity between two objects, specifically similarity in the shape of the referents, is a crucial element for relating words in earlier stages of development. The role of this perceptual similarity has not been systematically explored in children with Down syndrome (DS). Method: The aim was to explore the role of perceptual similarity in relationships between words in children with DS. Two groups, children with typical development (TD) and children with DS, matched by gender and mental age, participated in a priming task with a preferential looking paradigm. The task presented validated perceptually-related word pairs (prime-target) and perceptually unrelated pairs. In the priming task both groups were asked to look at a target image (e.g. ball) that was perceptually related (e.g. cookie) or unrelated (e.g. skirt) to the prime. Results: Participants from both groups looked more at targets without perceptual similarity than at those with similarity to the prime, suggesting an inhibition effect. Conclusions: This finding suggests the role of visual information, particularly the shape of the referents, in the construction of the lexical system.

TÍTULO / TITLE:   - Temporal and brain region-specific elevations of soluble Amyloid-β 40-42 in the Ts65Dn mouse model of Down syndrome and Alzheimer s disease

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REVISTA / JOURNAL:    - Aging Cell. 2022 Mar 15;e13590. doi: 10.1111/acel.13590. Online ahead of print. Free article

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AUTORES / AUTHORS: - Savannah Tallino, Wendy Winslow, Samantha K Bartholomew, Ramon Velazquez

INSTITUCIÓN / INSTITUTION: - Arizona State University-Banner Neurodegenerative Disease Research Center at the Biodesign Institute, Arizona State University, Tempe, Arizona, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a leading cause of intellectual disability that also results in hallmark Alzheimer s disease (AD) pathologies such as amyloid beta (Aβ) plaques and hyperphosphorylated tau. The Ts65Dn mouse model is commonly used to study DS, as trisomic Ts65Dn mice carry 2/3 of the triplicated gene homologues as occur in human DS. The Ts65Dn strain also allows investigation of mechanisms common to DS and AD pathology, with many of these triplicated genes implicated in AD; for example, trisomic Ts65Dn mice overproduce amyloid precursor protein (APP), which is then processed into soluble Aβ40-42 fragments. Notably, Ts65Dn mice show alterations to the basal forebrain, which parallels the loss of function in this region observed in DS and AD patients early on in disease progression. However, a complete picture of soluble Aβ40-42 accumulation in a region-, age-, and sex-specific manner has not yet been characterized in the Ts65Dn model. Here, we show that trisomic mice accumulate soluble Aβ40-42 in the basal forebrain, frontal cortex, hippocampus, and cerebellum in an age-specific manner, with elevation in the frontal cortex and hippocampus as early as 4 months of age. Furthermore, we detected sex differences in accumulation of Aβ40-42 within the basal forebrain, with females having significantly higher Aβ40-42 at 7-8 months of age. Lastly, we show that APP expression in the basal forebrain and hippocampus inversely correlates with Aβ40-42 levels. This spatial and temporal characterization of soluble Aβ40-42 in the Ts65Dn model allows for further exploration of the role soluble Aβ plays in the progression of other AD-like pathologies in these key brain regions.

TÍTULO / TITLE:   - Senescence in Down syndrome NPCs

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REVISTA / JOURNAL:    - Nat Neurosci 2022 Feb;25(2):131. doi: 10.1038/s41593-022-01016-6.

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AUTORES / AUTHORS: - Shari Wiseman

INSTITUCIÓN / INSTITUTION: - Nature Neuroscience,  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Patterns of Mixed Pathologies in Down Syndrome

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REVISTA / JOURNAL:    - J Alzheimers Dis. 2022 Mar 15. doi: 10.3233/JAD-215675. Online ahead of print.

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AUTORES / AUTHORS: - Shojiro Ichimata, Koji Yoshida, Naomi P Visanji, Anthony E Lang, Naoki Nishida, Gabor G Kovacs

INSTITUCIÓN / INSTITUTION: - Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Toronto, Canada. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is frequently associated with Alzheimer s disease (AD)-related neuropathological changes. There are few observations on the spectrum of mixed proteinopathies in DS patients. Objective: This study aimed to evaluate multiple disease-associated proteinopathies in a series of DS cases. Methods: We analyzed the distribution of neurodegenerative disease associated proteins in postmortem brain samples from 11 DS cases (6 females, median age 57, range 38-66 years). Sections were stained for phosphorylated tau, 3-repeat and 4-repeat tau, amyloid-β, alpha synuclein, phosphorylated TDP-43, and P62. A comprehensive anatomical mapping and staging were applied for all proteins. Results: Tau and amyloid-β pathology was prevalent in all cases and compatible with that typically seen in AD with some subtle deviations. Four of 11 cases presented with Lewy-related pathology (LRP). Two cases followed the Braak staging (stage 4 and 5) whereas 2 cases presented with an atypical distribution. Two cases showed limbic predominant age-related TDP-43 encephalopathy (LATE) (stage 1 and stage 2) neuropathologic change. Two cases exhibited aging-related tau astrogliopathy (ARTAG). Conclusion: In addition to subtle deviations from AD regarding the morphology of Aβ deposition and distribution of neuronal tau pathology, we find that the spectrum of mixed-pathologies in DS show distinctive features such as deviations from the Braak staging of LRP and that LATE neuropathologic change and ARTAG pathology can be seen in individuals younger than in sporadic AD cases. Our observations support the notion that DS has distinctive pathogenic pathways from sporadic AD.

TÍTULO / TITLE:   - Association of Retromer Deficiency and Tau Pathology in Down Syndrome

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REVISTA / JOURNAL:    - Ann Neurol. 2022 Apr;91(4):561-567. doi: 10.1002/ana.26321. Epub 2022 Feb 25.

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AUTORES / AUTHORS: - Mary Elizabeth Curtis, Tiffany Smith, Daohai Yu, Domenico Pratic

INSTITUCIÓN / INSTITUTION: - Alzheimer s Center at Temple, Temple University Lewis Katz School of Medicine, Philadelphia, PA. 

RESUMEN / SUMMARY: - Retromer deficiency is reported in Down syndrome and correlates with amyloidosis, however, its association with tau neuropathology remains unclear. Down syndrome and control brain tissues were evaluated for phosphorylated tau, tau modulators, and cathepsin-D activity. Several kinases and phosphatase PP2A were unchanged, but tau phosphorylation was elevated, and cathepsin-D activity decreased in aged patients with Down syndrome. Retromer proteins positively associated with soluble tau, whereas pathogenic tau negatively correlated with retromer proteins and cathepsin-D activity. Retromer deficiency and consequent reduction of cathepsin-D activity may contribute to pathogenic tau accumulation, thus, retromer represents a viable therapeutic target against tau pathology in Down syndrome.

TÍTULO / TITLE:   - Probing the proteome to explore potential correlates of increased Alzheimer s-related cerebrovascular disease in adults with Down syndrome

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REVISTA / JOURNAL:    - Alzheimers Dement. 2022 Feb 24. doi: 10.1002/alz.12627. Online ahead of print.

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AUTORES / AUTHORS: - Fahmida Moni, Melissa E Petersen, Fan Zhang, Patrick J Lao, Molly E Zimmerman, Yian Gu, José Gutierrez, Batool Rizvi, Krystal K Laing, Kay C Igwe, Mithra Sathishkumar, David Keator, Howard Andrews, Sharon Krinsky-McHale, Elizabeth Head, Joseph H Le

INSTITUCIÓN / INSTITUTION: - Taub Institute for Research on Alzheimers Disease and the Aging Brain, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA 

RESUMEN / SUMMARY: - Cerebrovascular disease is associated with symptoms and pathogenesis of Alzheimer s disease (AD) among adults with Down syndrome (DS). The cause of increased dementia-related cerebrovascular disease in DS is unknown. We explored whether protein markers of neuroinflammation are associated with markers of cerebrovascular disease among adults with DS. Participants from the Alzheimer s disease in Down syndrome (ADDS) study with magnetic resonance imaging (MRI) scans and blood biomarker data were included. Support vector machine (SVM) analyses examined the relationship of blood-based proteomic biomarkers with MRI-defined cerebrovascular disease among participants characterized as having cognitive decline (n = 36, mean age ± SD = 53 ± 6.2) and as being cognitively stable (n = 78, mean age = 49 ± 6.4). Inflammatory and AD markers were associated with cerebrovascular disease, particularly among symptomatic individuals. The pattern suggested relatively greater inflammatory involvement among cognitively stable individuals and greater AD involvement among those with cognitively decline. The findings help to generate hypotheses that both inflammatory and AD markers are implicated in cerebrovascular disease among those with DS and point to potential mechanistic pathways for further examination.

TÍTULO / TITLE:   - Interplay of Ferritin Accumulation and Ferroportin Loss in Ageing Brain: Implication for Protein Aggregation in Down Syndrome Dementia, Alzheimer s, and Parkinson s Diseases

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REVISTA / JOURNAL:    - Int J Mol Sci. 2022 Jan 19;23(3):1060. doi: 10.3390/ijms23031060. Free PMC article

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AUTORES / AUTHORS: - Animesh Alexander Raha, Anwesha Biswas, James Henderson, Subhojit Chakraborty, Anthony Holland, Robert P Friedland, Elizabeta Mukaetova-Ladinska, Shahid Zaman, Ruma Raha-Chowdhury

INSTITUCIÓN / INSTITUTION: - John van Geest Centre for Brain Repair, Department of Clinical Neuroscience, University of Cambridge, Cambridge CB2 2PY, UK. 

RESUMEN / SUMMARY: - Iron accumulates in the ageing brain and in brains with neurodegenerative diseases such as Alzheimer s disease (AD), Parkinson s disease (PD), Huntington s disease (HD), and Down syndrome (DS) dementia. However, the mechanisms of iron deposition and regional selectivity in the brain are ill-understood. The identification of several proteins that are involved in iron homeostasis, transport, and regulation suggests avenues to explore their function in neurodegenerative diseases. To uncover the molecular mechanisms underlying this association, we investigated the distribution and expression of these key iron proteins in brain tissues of patients with AD, DS, PD, and compared them with age-matched controls. Ferritin is an iron storage protein that is deposited in senile plaques in the AD and DS brain, as well as in neuromelanin-containing neurons in the Lewy bodies in PD brain. The transporter of ferrous iron, Divalent metal protein 1 (DMT1), was observed solely in the capillary endothelium and in astrocytes close to the ventricles with unchanged expression in PD. The principal iron transporter, ferroportin, is strikingly reduced in the AD brain compared to age-matched controls. Extensive blood vessel damage in the basal ganglia and deposition of punctate ferritin heavy chain (FTH) and hepcidin were found in the caudate and putamen within striosomes/matrix in both PD and DS brains. We suggest that downregulation of ferroportin could be a key reason for iron mismanagement through disruption of cellular entry and exit pathways of the endothelium. Membrane damage and subsequent impairment of ferroportin and hepcidin causes oxidative stress that contributes to neurodegeneration seen in DS, AD, and in PD subjects. We further propose that a lack of ferritin contributes to neurodegeneration as a consequence of failure to export toxic metals from the cortex in AD/DS and from the substantia nigra and caudate/putamen in PD brain.

TÍTULO / TITLE:   - Screening for Dementia and Cognitive Decline in Adults With Down Syndrome: A Novel Approach Using the Informant Questionnaire on Cognitive Decline in the Elderly

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REVISTA / JOURNAL:    - Alzheimer Dis Assoc Disord. 2022 Mar 16. doi: 10.1097/WAD.0000000000000495. Online ahead of print.

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AUTORES / AUTHORS: - Guilherme Prado Mattar, Ricardo R Uchida, Glenda G Haddad,Pedro Shiozawa, Maria de F tima Rebou as da Silva, Marcelo Q Hoexter, Geraldo F Busatto, Cassio M de Campos Bottino, Luciana M Fonseca Orestes V Forlenza

INSTITUCIÓN / INSTITUTION: - Laboratories of Neuroscience (LIM-27) Psychiatric Neuroimaging (LIM-21) Old Age Research Group (PROTER) Obsessive-Compulsive Spectrum Disorders Program, Departamento e Instituto de Psiquiatria HCFMUSP, Faculdade de Medicina da Universidade  

RESUMEN / SUMMARY: - Objective: The aim was to examine the psychometric properties of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) as a diagnostic tool to screen for dementia in aging individuals with Down syndrome (DS). Methods: This was a cross-sectional study of 92 individuals with DS 30 y or above of age) evaluated with the IQCODE. Using the informant questionnaire of the Cambridge Examination for Mental Disorders of Older People with Downs Syndrome and Others with Intellectual Disabilities, we divided the subjects into 3 diagnostic groups: stable cognition; prodromal dementia; and dementia. The ability of the IQCODE to discriminate between diagnostic groups was analyzed by calculating the areas under the receiver operator characteristic curves (AUCs). Results:The optimal IQCODE cutoffs were 3.14 for dementia versus stable cognition (AUC=0.993; P<0.001) and 3.11 for prodromal dementia+dementia versus stable cognition (AUC=0.975; P<0.001), with sensitivity/specificity/accuracy of 100%/96.8%/97.3%, and 93.3%/91.9%/92.4%, respectively. The IQCODE showed a weak-to-moderate correlation with cognitive performance (P<0.05). Conclusion:The IQCODE is a useful tool to screen for cognitive decline in individuals with DS and is suitable for use in a primary care setting.

Cardiology - Cardiología

TÍTULO / TITLE:   - Atrioventricular Septal Defect

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REVISTA / JOURNAL:    - StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. 2022 Jan 13.

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AUTORES / AUTHORS: - Intisar Ahmed,Fatima Anjum

INSTITUCIÓN / INSTITUTION: - Aga Khan University Pakistan 

RESUMEN / SUMMARY: - The atrioventricular septal defect is a congenital cardiac malformation that is characterized by a variable degree of the atrial and ventricular septal defect along with a common or partially separate atrioventricular orifice. A partial atrioventricular septal defect is characterized by an ostium primum atrial septal defect, separate atrioventricular valves with a common junction, an inlet ventricular septal defect, and a cleft mitral valve. Whereas the complete form of the atrioventricular septal defect (AVSD) is characterized by a common atrioventricular valve with ostium primum atrial septal defect and an unrestricted ventricular septal defect of inlet type. The incidence of atrioventricular septal defect has been estimated from 0.24 to 0.31 in 1000 live births with no significant difference in male and female gender, and it has a strong association with Downs syndrome. Although the long term outcomes of surgical repair in an atrioventricular septal defect are influenced by the presence of associated malformations, such as ventricular hypoplasia, and downs syndrome, the evolution of the surgical treatment of atrioventricular defects over the last few decades has significantly improved the long term survival. In this review article, we will discuss the etiology, epidemiology, pathophysiology, as well as management, complications, and clinical significance of atrioventricular septal defect.

TÍTULO / TITLE:   - Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension

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REVISTA / JOURNAL:    - J Pediatr.2022 Feb;241:68-76.e3.

Enlace a la Editora de la Revista J Pediatr. 2022 Feb;241:68-76.e3 doi: 10.1016/j.jpeds.2021.10.017. Epub 2021 Oct 21

AUTORES / AUTHORS: - Megan Griffiths, Jun Yang, Dhananjay Vaidya, Melanie Nies, Stephanie Brandal, D Dunbar Ivy, Francis Hickey, Kristine Wolter-Warmerdam, Eric D Austin, Mary Mullen, Michael W Pauciulo, Katie A Lutz, Erika B Rosenzweig, Russel Hirsch, Delphine Yung, Wil

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University, Baltimore, MD; Department of Internal Medicine, Johns Hopkins University, Baltimore, MD. 

RESUMEN / SUMMARY: - Objective: To evaluate the performance of pulmonary hypertension (PH) biomarkers in children with Down syndrome, an independent risk factor for PH, in whom biomarker performance may differ compared with other populations. Study design: Serum endostatin, interleukin (IL)-1 receptor 1 (ST2), galectin-3, N-terminal pro hormone B-natriuretic peptide (NT-proBNP), IL-6, and hepatoma-derived growth factor (HDGF) were measured in subjects with Down syndrome and PH (n = 29), subjects with Down syndrome and resolved PH (n = 13), subjects with Down syndrome without PH (n = 49), and subjects without Down syndrome with World Symposium on Pulmonary Hypertension group I pulmonary arterial hypertension (no Down syndrome PH group; n = 173). Each biomarker was assessed to discriminate PH in Down syndrome. A classification tree was created to distinguish PH from resolved PH and no PH in children with Down syndrome. Results:�Endostatin, galectin-3, HDGF, and ST2 were elevated in subjects with Down syndrome regardless of PH status. Not all markers differed between subjects with Down syndrome and PH and subjects with Down syndrome and resolved PH. NT-proBNP and IL-6 levels were similar in the Down syndrome with PH group and the no Down syndrome PH group. A classification tree identified NT-proBNP and galectin-3 as the best markers for sequentially distinguishing PH, resolved PH, and no PH in subjects with Down syndrome. Conclusions: Proteomic markers are used to improve the diagnosis and prognosis of PH but, as demonstrated here, can be altered in genetically unique populations such as individuals with Down syndrome. This further suggests that clinical biomarkers should be evaluated in unique groups with the development of population-specific nomograms.

TÍTULO / TITLE:   - Relationship Between Postnatal Pulmonary Arterial Pressure and Altered Diastolic Function in Neonates with Down Syndrome

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REVISTA / JOURNAL:    - J Pediatr. 2022 Feb 14;S0022-3476(22)00113-5. doi: 10.1016/j.jpeds.2022.02.014. Online ahead of pri

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AUTORES / AUTHORS: - : Aisling Smith, Neidin Bussmann, Colm Breatnach, Philip T Levy, Eleanor Molloy, Jan Miletin, Anna Curley, Naomi McCallion, Orla Franklin, Afif F El-Khuffash

INSTITUCIÓN / INSTITUTION: - Department of Neonatology, The Rotunda Hospital, Dublin, Ireland 

RESUMEN / SUMMARY: - : Objective: To assess the influence of diastolic dysfunction on the evolution of pulmonary hypertension in neonates with Down Syndrome over the early newborn period. Study design: This was a prospective observational cohort study. Echocardiography was performed three times over the first week of life in both Down syndrome and control cohorts. Measurements of pulmonary arterial pressure in addition to left ventricular (LV) and right ventricular systolic and diastolic function were collected. Results: Seventy babies with Down syndrome and 60 control infants were enrolled. Forty-eight of the infants with Down syndrome (69%) were born with congenital heart disease (CHD). Echocardiography surrogates of pulmonary hypertension and myocardial function remained significantly impaired in the Down syndrome group in comparison with control infants (all P < .01). In the Down syndrome group, LV early diastolic strain rate was independently associated with measures of pulmonary hypertension while controlling for gestational age, cesarean delivery, and the presence of CHD (P < .01). Conclusions: Intrinsic LV diastolic impairment is directly associated with higher indices of pulmonary hypertension in infants with Down syndrome and may be a contributing factor to its evolution.

TÍTULO / TITLE:   - New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease

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REVISTA / JOURNAL:    - Front Genet. 2022 Jan 18;12:792231. doi: 10.3389/fgene.2021.792231. eCollection 2021. Free PMC arti

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AUTORES / AUTHORS: - Leslye Venegas-Zamora, Francisco Bravo-Acu a, Francisco Sigcho, Wileidy Gomez, Jose Bustamante-Salazar, Zully Pedrozo, Valentina Parra

INSTITUCIÓN / INSTITUTION: - Advanced Center of Chronic Diseases (ACCDiS), Facultad de Ciencias Quimicas y Farmaceuticas y Facultad de Medicina, Universidad de Chile, Santiago, Chile. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a genetic disorder caused by a trisomy of the human chromosome 21 (Hsa21). Overexpression of Hsa21 genes that encode proteins and non-coding RNAs (ncRNAs) can disrupt several cellular functions and biological processes, especially in the heart. Congenital heart defects (CHDs) are present in 45-50% of individuals with DS. Here, we describe the genetic background of this condition (Hsa21 and non-Hsa21 genes), including the role of ncRNAs, and the relevance of these new players in the study of the pathophysiology of DS heart diseases. Additionally, we discuss several distinct pathways in cardiomyocytes which help maintain a functional heart, but that might trigger hypertrophy and oxidative stress when altered. Moreover, we highlight the importance of investigating how mitochondrial and lysosomal dysfunction could eventually contribute to understanding impaired heart function and development in subjects with the Hsa21 trisomy. Altogether, this review focuses on the newest insights about the gene expression, molecular pathways, and organelle alterations involved in the cardiac phenotype of DS.

TÍTULO / TITLE:   - Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome

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REVISTA / JOURNAL:    - J Pediatr. 2022 Jan 31;S0022-3476(22)00065-8. doi: 10.1016/j.jpeds.2022.01.034. Online ahead of pri

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AUTORES / AUTHORS: - Shaji Thomas John Kizhanipurath Gayathr, Kalpathy Vaidyanathan Sahasranam

INSTITUCIÓN / INSTITUTION: - Down Syndrome Clinic, Baby Memorial Hospital, Kozhikode, Kerala, India. 

RESUMEN / SUMMARY: - Objectives: To study the cytogenetic patterns, congenital heart disease, and thyroid dysfunction in children with Down syndrome. Study design: This was a retrospective observational study of children with Down syndrome over a period of 20 years, from a major referral institution in Kerala state, South India. The cytogenetic patterns, echocardiography reports, and thyroid profiles were analyzed using SPSS, version 20, software. The prevalence of heart disease and thyroid status in the various cytogenetic patterns also were analyzed. Results: The prevalence of translocation (9.45%) was high compared with the reported 4% in the literature. More of the younger mothers had translocation with a greater, but not statically significant, incidence of heart disease. Mosaic karotypes (3.04%) were also greater than reported (1%) in the literature, with female preponderance. Heart disease was seen in 58% of cases, with atrial septal defect being the most common lesion, compared with atrioventricular septal defect noted in literature. Hypothyroidism was noted in 31.2% with no difference among the cytogenetic groups. There was no case of hyperthyroidism. Conclusions: The high prevalence of translocation and mosaic Down syndrome stresses the need for routine karyotyping in children with Down syndrome. The need for routine screening and regular follow up of heart diseases and thyroid status should be emphasized.

TÍTULO / TITLE:   - Concomitant pulmonary and neurological embolisation in a Down patient after SARS-CoV-2 vaccine: what is missing?

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REVISTA / JOURNAL:    - Cardiol Young. 2022 Jan 24;1-3. doi: 10.1017/S1047951122000191. Online ahead of print.

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AUTORES / AUTHORS: - Arianna Di Molfetta, Sonia Volpe, Marco Cesario, Pasquale Mollo, Duino Boncompagni, Giancarlo Di Ruzza, Maurizio Menichelli

INSTITUCIÓN / INSTITUTION: - Department of Cardiology, Fabrizio Spaziani Hospital, Frosinone, Italy. 

RESUMEN / SUMMARY: - A 40-year-old Down patient without previous cardiological history was admitted to our institution for dyspnoea after COVID-19 vaccine. CT scan revealed a pulmonary thromboembolism. One week later, he developed neurological impairment and CT scan evidenced a left parietal ischaemic lesion. Concomitantly, he underwent echocardiography showing an atrioventricular septal defect typically associated to Down syndrome and never diagnosed earlier. The diagnosis of paradoxical embolisation was then supposed. Echocardiography also revealed a severe right heart section dilatation, with bidirectional shunt on the septal defects and systemic right heart pressure. Down patients affected by CHD are more prone to develop pulmonary vasculopathy than non-syndromic patients. In this case, the pulmonary vasculopathy was further exacerbated by the pulmonary embolism and by the late diagnosis of CHD. Finally, an appropriate timely diagnosis of atrioventricular septal defect could potentially avoid the neurological complication in this patient.

TÍTULO / TITLE:   - Concomitant trans-sternal repair of Morgagni hernia and ventricular septal defect in a patient with Down syndrome: A case report

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REVISTA / JOURNAL:    - Int J Surg Case Rep. 2022 Mar;92:106911.doi: 10.1016/j.ijscr.2022.106911. Epub 2022 Mar 1. Free PMC

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AUTORES / AUTHORS: - Ali Ateel Daifoladi, Hojat Gholipoor Talemi, Mohammad Aqeel Rezaei, Ahmad Fawad Wardak, Fawzia Negin, Sayed Hamid Mousavi

INSTITUCIÓN / INSTITUTION: - Mellat Cardiovascular Institute and Research Center, Kabul, Afghanistan. 

RESUMEN / SUMMARY: - Introduction: Morgagni hernia is a rare type of hernia occurring secondary to potential anterior-medial defects in the diaphragm. The association of the defect with congenital cardiac pathologies and Down syndrome are well known. The defect is repaired usually by trans-abdominal or transthoracic approaches. Trans-sternal repair of the hernia is preferred in patients undergoing concomitant open heart surgery. Case presentation: A 2-year-old child with Down syndrome underwent concomitant repair of Morgagni hernia and closure of his ventricular septal defect under cardiopulmonary bypass. The hernia was corrected by the sternotomy approach, without opening the hernia content, before the correction of the cardiac pathology. The patient made an uneventful recovery and was discharged on the 4th postoperative day. Discussion: Preoperative diagnosis of diaphragmatic hernia in congenital heart disease is important to decrease mortality rate. However, trans-sternal exposure of the defect is also possible, as in this case, in patients undergoing open heart surgery for congenital cardiac defects. The defect can be repaired by this approach, concomitantly with the cardiac anomaly, no need for an additional incision and without opening the hernia sac. Conclusion: Our experience, although very limited, in patients who are suffering from Morgagni hernia and concomitant congenital heart defects shows that simultaneous repair of Morgagni hernia through midline sternotomy prior to cardiac procedure is effective. As Morgagni hernia can be accompanied with many congenital cardiac anomalies, cardiac surgeons should be familiar with the trans-sternal approach to the defect.

Dental - Dental

TÍTULO / TITLE:   - Dental health care for children with Down syndrome: Parents´ description of their children´s needs in dental health care settings

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REVISTA / JOURNAL:    - : Eur J Oral Sci. 2022 Feb 26;e12859. doi: 10.1111/eos.12859. Online ahead of print.

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AUTORES / AUTHORS: - Malin Stensson, Johanna Norderyd, Marcia Van Riper, Luc Marks, Maria Bjrk

INSTITUCIÓN / INSTITUTION: - Centre of Oral Health, School of Health Sciences, Jönköping University, Jönköping, Sweden. 

RESUMEN / SUMMARY: - A visit to the dental clinic may be challenging for a child with Down syndrome due to medical and oral health problems as well as communication problems. The aim of the present study was to explore how parents of children with Down syndrome describe their child´s needs in the dental health care setting. In a survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis and resulted in five categories: "Need for continuity of care in dental health care"; "Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities"; "Need for dental health care professionals to use a caring approach with children with Down syndrome"; "Need for the child with Down syndrome to be prepared to participate in their dental health care visit" and "Need for the child with Down syndrome to be given the same rights as typically developing children". To support children with Down syndrome in an optimal way, dental health care needs to be tailored to meet the child´s unique needs. In addition, dental health care professionals need knowledge of and expertise in the care of children with Down syndrome.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Children With Down Syndrome and Obstructive Sleep Apnea: Outcomes After Tonsillectomy

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REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2022 Mar;166(3):557-564. doi: 10.1177/01945998211023102. Epub 2021 Jul

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AUTORES / AUTHORS: - Claire A Abijay, Anna Tomkies, Swathi Rayasam, Romaine F Johnson, Ron B Mitchell

INSTITUCIÓN / INSTITUTION: - UT Southwestern Medical School, Dallas, Texas, USA. 

RESUMEN / SUMMARY: - : Objective: To evaluate outcomes of tonsillectomy and predictors for persistent obstructive sleep apnea (OSA) in children with Down syndrome in an ethnically diverse population. Study design: Case series with chart review. Setting: UT Southwestern/Children´s Medical Center Dallas. Methods: Polysomnographic, clinical, and demographic characteristics of children with Down syndrome ages 1 to 18 years were collected, including pre- and postoperative polysomnography. Simple and multivariable regression models were used for predictors for persistent OSA. P≤ .05 was considered significant. Results: Eighty-one children were included with a mean age of 6.6 years, 44 of 81 (54%) males, and 53 of 81 (65%) Hispanic. Preoperatively, 60 of 81 (74%) patients had severe OSA. Posttonsillectomy improvements occurred for apnea-hypopnea index (27.9 to 14.0, P < .001), arousal index (25.2 to 18.8, P = .004), percent time with oxygen saturations <90% (8.8% to 3.4%, P = .003), and oxygen nadir (81.4% to 85%, P < .001). Forty-seven children (58%) had persistent OSA. Fifteen children (18.5%) had increased apnea-hypopnea index postoperatively: 2 from mild to moderate, 2 from mild to severe, and 2 from moderate to severe obstructive sleep apnea. Persistent OSA predictors were asthma (odds ratio, 4.77; 95% CI, 1.61-14.09; P = .005) and increasing age (odds ratio, 1.25; 95% CI, 1.09-1.43; P = .001). Conclusion: Children with Down syndrome are at high risk for persistent OSA after tonsillectomy with about 20% worsening after tonsillectomy. Asthma and increasing age are predictors for persistent OSA in children with Down syndrome.

TÍTULO / TITLE:   - : Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre

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REVISTA / JOURNAL:    - Acta Otolaryngol. 2022 Feb 2;1-4.

Enlace a la Editora de la Revista doi: 10.1080/00016489.2022.2028007. Online ahead of print

AUTORES / AUTHORS: - Mohammad Nasyatmuddin Yahya, Bee-See Goh, Fahrin Zara Mohammad Nasseri, Nor Azlin Kamal Nor, Wan Nurulhuda Wan Md Zin, Hasniah Abdul Latif

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology Head & Neck Surgery, University Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is the most common human chromosomal genetic disorder; caused by extra copy of chromosome 21-one out of 792 babies globally and one in 950 in Malaysia. Objectives: To obtain spectrum of upper airway pathology in DS children-prevalence, causes and management practices. Materials and methods: A cross-sectional study of children with DS aged less than 18 years old with signs of UAO was conducted. Diagnosis of UAO, management and final outcome was observed and documented. Results: Ninety-one patients were recruited. 20 cases (22%) had significant noisy breathing which indicates the prevalence of upper airway pathology (p=.025). Laryngomalacia (34.5%) was the most common pathology, followed by paediatric SDB (24.1%), tracheal bronchus (17.2%), tracheal stenosis (6.9%), and tracheomalacia (6.9%). Seven cases (7.7%) presented with respiratory distress. 12 cases were managed conservatively, while eight cases required further investigations under general anaesthesia (GA) with/without surgical intervention. Six cases showed symptoms resolution within a week post-surgical intervention, and another case resolved after 30 days and one case resolved after 8 months of post-surgical intervention. Conclusion and significance: Early detection and high index of suspicion is required to diagnose and treat these anomalies timely.

TÍTULO / TITLE:   - Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre

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REVISTA / JOURNAL:    - Acta Otolaryngol. 2022 Feb 2;1-4.

Enlace a la Editora de la Revista doi: 10.1080/00016489.2022.2028007. Online ahead of print

AUTORES / AUTHORS: - Mohammad Nasyatmuddin Yahya, Bee-See Goh, Fahrin Zara Mohammad Nasseri, Nor Azlin Kamal Nor, Wan Nurulhuda Wan Md Zin, Hasniah Abdul Latif

INSTITUCIÓN / INSTITUTION: - Department of Otorhinolaryngology Head & Neck Surgery, University Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is the most common human chromosomal genetic disorder; caused by extra copy of chromosome 21-one out of 792 babies globally and one in 950 in Malaysia. Objectives: To obtain spectrum of upper airway pathology in DS children-prevalence, causes and management practices. Materials and methods: A cross-sectional study of children with DS aged less than 18 years old with signs of UAO was conducted. Diagnosis of UAO, management and final outcome was observed and documented. Results: Ninety-one patients were recruited. 20 cases (22%) had significant noisy breathing which indicates the prevalence of upper airway pathology (p=.025). Laryngomalacia (34.5%) was the most common pathology, followed by paediatric SDB (24.1%), tracheal bronchus (17.2%), tracheal stenosis (6.9%), and tracheomalacia (6.9%). Seven cases (7.7%) presented with respiratory distress. 12 cases were managed conservatively, while eight cases required further investigations under general anaesthesia (GA) with/without surgical intervention. Six cases showed symptoms resolution within a week post-surgical intervention, and another case resolved after 30 days and one case resolved after 8 months of post-surgical intervention. Conclusion and significance: Early detection and high index of suspicion is required to diagnose and treat these anomalies timely.

TÍTULO / TITLE:   - What are the Soft Tissue Risk Factors for Obstructive Sleep Apnea in Patients with Downs Syndrome

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REVISTA / JOURNAL:    - Cleft Palate Craniofac J. 2022 Mar 2;10556656221088171. doi: 10.1177/10556656221088171. Online ahea

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AUTORES / AUTHORS: - Dani Stanbouly, Barry Steinberg, Sung-Kiang Chuang

INSTITUCIÓN / INSTITUTION: - 43802Columbia University College of Dental Medicine, New York, NY, USA. 

RESUMEN / SUMMARY: - Objective: To determine the risk factors and their respective magnitudes for developing Obstructive Sleep Apnea (OSA) in Down syndrome (DS) patients. Design: Retrospective cohort study. Patients: The 2016 Kids´ Inpatient Database (KID) was queried to identify all patients diagnosed with DS. Main outcome measures: The primary predictor variables were tonsillar hypertrophy (TH), adenoidal hypertrophy (AH), Hypertrophy of Tonsils & Adenoids (HTA), Laryngeal Stenosis (LS), Hypotonia, Glossoptosis, Congenital Laryngomalacia (CL), and Overweight & Obesity (OO). The primary outcome variable was OSA. Results: The final sample consisted of 18,181 patients with a diagnosis of DS. Relative to patients aged 0-5, patients aged 6-10 (OR 3.5, P < 0.01), 11-5 (OR 3.4, P < 0.01), and 16 & above (OR 3.6, P < 0.01) were each independently associated with increased odds of OSA. Further, TH (OR 23.2, P < 0.01), AH (OR 20.3, P < 0.01), HTA (OR 64.2, P < 0.01), glossoptosis (OR 5.0, P < 0.01), CL (OR 4.3, P < 0.01), and OO (OR 3.7, P < 0.01) were all independent risk factors for OSA. Conclusions: The presence of hypertrophied tonsils and adenoids together was the strongest risk factor for OSA. DS patients aged six and above were at risk for OSA development relative to younger patients. Patients with DS should be tested for OSA, which otherwise will deteriorate their existing comorbidities.

TÍTULO / TITLE:   - Risk factors for respiratory adverse events after adenoidectomy and tonsillectomy in children with down syndrome: a retrospective cohort study

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REVISTA / JOURNAL:    - Eur J Pediatr. 2022 Mar 12. doi: 10.1007/s00431-022-04438-3. Online ahead of print.

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AUTORES / AUTHORS: - Lena Xiao, Nicholas Barrowman, Franco Momoli, Kimmo Murto, Matthew Bromwich, Sherri L Katz

INSTITUCIÓN / INSTITUTION: - Childrens Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, K1H 8L1, Canada. 

RESUMEN / SUMMARY: - Obstructive sleep apnea syndrome is a major cause of morbidity in the Down syndrome population and is commonly treated with adenoidectomy and/or tonsillectomy (AT). However, these children are at increased risk for perioperative respiratory adverse events (PRAEs). The objective of this study was to examine risk factors for major PRAEs requiring intervention in children with Down syndrome undergoing AT and to describe their postoperative monitoring environment. This retrospective study included all children with Down syndrome aged 0-18 years who underwent a preoperative polysomnogram followed by AT at a tertiary pediatric institution. Descriptive statistics were used to summarize baseline demographic and clinical characteristics. A multivariable model for prediction of PRAEs was constructed. A priori, it was decided that minimum oxygen saturation, apnea-hypopnea index, and average oxygen saturation asleep would be included, along with medical comorbidities associated with PRAEs at p < 0.2 in univariable analyses. Fifty-eight children were included in this study; twelve had a PRAE. Cardiac disease was associated with PRAEs on univariable analysis (p = 0.03). In multivariable analysis, average oxygen saturation asleep was associated with PRAEs (OR 1.50; 95% confidence interval 1.00, 2.41; p = 0.05). For all of the remaining variables, p > 0.15. Fifty-six children were admitted for monitoring overnight; four were admitted to the intensive care unit and fifty-two were admitted to the ward. Conclusions: A multivariable model found evidence that lower average oxygen saturation while asleep was associated with PRAEs requiring intervention in children with Down syndrome. This study highlights the difficulty in predicting complications in this population. What is known: Obstructive sleep apnea syndrome is a major cause of morbidity in the Down syndrome population and is commonly treated with adenoidectomy and/or tonsillectomy. However, children with Down syndrome are at

TÍTULO / TITLE:   - Otolaryngologic Disease in Down syndrome

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REVISTA / JOURNAL:    - Pediatr Clin North Am. 2022 Apr;69(2):381-401. doi: 10.1016/j.pcl.2022.01.005.

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AUTORES / AUTHORS: - Marisa A Earley, Erica T Sher, Tess L Hill

INSTITUCIÓN / INSTITUTION: - UT Health San Antonio, 7703 Floyd Curl Drive MC 7777, San Antonio, TX 78229, USA.  

RESUMEN / SUMMARY: - As the most common human chromosomal abnormality, Trisomy 21 is a condition that many otolaryngologists and likely all pediatric otolaryngologists will encounter during their careers. There are several considerations regarding airway obstruction, otologic conditions, anesthetic implications, and endocrine disorders that will impact the treatment of these patients. Further, there is increasing literature supporting the use of early instrumental assessment of swallowing, drug-induced sleep endoscopy at the time of first surgical intervention for sleep apnea, consideration of concurrent upper and lower airway evaluation, and early otologic management including potential surgical hearing rehabilitation.

TÍTULO / TITLE:   - Management outcomes of otitis media with effusion in children with down syndrome: A systematic review

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2022 Mar 3;156:111092. doi: 10.1016/j.ijporl.2022.111092. Online ah

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AUTORES / AUTHORS: - Salam Sait, Sarah Alamoudi, Faisal Zawawi

INSTITUCIÓN / INSTITUTION: - Department of Otolaryngology - Head and Neck Surgery, King Abdulaziz University Hospital, Jeddah, Saudi Arabia. 

RESUMEN / SUMMARY: - Objective: To assesses the current state of uncertainty concerning the management options used for otitis media with effusion (OME) in children with trisomy 21. Review methods: A systematic review of adhering to the PRISMA statement of studies evaluating the management of OME in trisomy 21 children prior to September 2021 was conducted. Studies were identified using the following medical databases: PubMed, Google Scholar, CINAHL, Scopus and Medline. Data extraction was performed by screening of titles and abstracts based on eligibility criteria, followed by full-article analysis of selected records. Results: Twenty articles were included in this review. Studies showed conflicting outcomes regarding the different interventions used for OME in children with trisomy 21. Of those evaluating pressure equalizing tubes (PET), some studies report pronounced complication rates and recommend using a conservative approach unless complications arise and/or hearing loss is severe. In contrast, other studies reported significantly reduced complication rates and improved hearing with earlier intervention and adaptations to PETs. Hearing aids may be provided after multiple failed PETs. Conclusion: Clinical equipoise still persists regarding the best method to manage children with trisomy 21 who have OME. Although PETs exhibited the lowest complication rates and highest improvement rates, further prospective trials are warranted to assess the various treatment modalities and determine which of them would provide the best outcome while reducing complications as well as the age of treatment.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Thyroid disorder in children and young people with Down syndrome: DSMIG guideline review

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REVISTA / JOURNAL:    - Arch Dis Child Educ Pract Ed. 2022 Feb;107(1):34-35. doi: 10.1136/archdischild-2020-321080. Epub 20

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AUTORES / AUTHORS: - Rebecca Amy Dalrymple

INSTITUCIÓN / INSTITUTION: - Department of Community Child Health, The West Centre, Glasgow, UK  

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Prevalence of Endocrine Disorders Among 6078 Individuals With Down Syndrome in the United States

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REVISTA / JOURNAL:    - J Patient Cent Res Rev. 2022 Jan 17;9(1):70-74. doi: 10.17294/2330-0698.1877. eCollection Winter

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AUTORES / AUTHORS: - Anne Rivelli, Veronica Fitzpatrick, Danielle Wales, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

INSTITUCIÓN / INSTITUTION: - Advocate Aurora Health, Downers Grove, IL 

RESUMEN / SUMMARY: - Findings from a recent study describing prevalence of common disease conditions in the largest documented cohort of individuals with Down syndrome (DS) in the United States strongly suggested significant disparity in endocrine disorders among these individuals when compared with age- and sex-matched individuals without DS. This retrospective, descriptive study is a follow-up report documenting prevalence of 21 endocrine disorder conditions, across 28 years of data, from 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large integrated health system. Overall, individuals with DS experienced higher prevalence of adrenal insufficiency and Addison´s disease; thyroid disorders, including hypothyroidism, hyperthyroidism, Hashimoto´s disease, and Graves´ disease; prolactinoma/ hyperprolactinemia; diabetes insipidus; type I diabetes mellitus; and gout. Conversely, those with DS had lower prevalence of polycystic ovary syndrome and type II diabetes mellitus. Many prevalences of endocrine conditions seen in individuals with DS significantly differ relative to their non-DS matched counterparts. These varied findings warrant further exploration into how screening for and treatment of endocrine conditions may need to be approached differently for individuals with DS.

TÍTULO / TITLE:   - Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome

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REVISTA / JOURNAL:    - J Pediatr. 2022 Jan 31;S0022-3476(22)00065-8. doi: 10.1016/j.jpeds.2022.01.034. Online ahead of

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AUTORES / AUTHORS: - Shaji Thomas John Kizhanipurath Gayathr, Kalpathy Vaidyanathan Sahasranam

INSTITUCIÓN / INSTITUTION: - Down Syndrome Clinic, Baby Memorial Hospital, Kozhikode, Kerala, India. 

RESUMEN / SUMMARY: - Objectives: To study the cytogenetic patterns, congenital heart disease, and thyroid dysfunction in children with Down syndrome. Study design: This was a retrospective observational study of children with Down syndrome over a period of 20 years, from a major referral institution in Kerala state, South India. The cytogenetic patterns, echocardiography reports, and thyroid profiles were analyzed using SPSS, version 20, software. The prevalence of heart disease and thyroid status in the various cytogenetic patterns also were analyzed. Results: The prevalence of translocation (9.45%) was high compared with the reported 4% in the literature. More of the younger mothers had translocation with a greater, but not statically significant, incidence of heart disease. Mosaic karotypes (3.04%) were also greater than reported (1%) in the literature, with female preponderance. Heart disease was seen in 58% of cases, with atrial septal defect being the most common lesion, compared with atrioventricular septal defect noted in literature. Hypothyroidism was noted in 31.2% with no difference among the cytogenetic groups. There was no case of hyperthyroidism. Conclusions: The high prevalence of translocation and mosaic Down syndrome stresses the need for routine karyotyping in children with Down syndrome. The need for routine screening and regular follow up of heart diseases and thyroid status should be emphasized.

TÍTULO / TITLE:   - Oral Function and Eating Habit Problems in People with Down Syndrome

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Feb 24;19(5):2616. doi: 10.3390/ijerph19052616. Free PMC a

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AUTORES / AUTHORS: - Sonia Canizares-Prado, Jorge Molina-Lopez, Maria Trinidad Moya, Elena Planells

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Faculty of Pharmacy, Institute of Nutrition and Food Technology  

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is a genetic disorder in which there is an increased risk of developing clinical comorbidities that require regular attention: health problems, alterations in maxillomandibular development, chewing and swallowing problems, as well as dietary habits that may influence diet and nutritional status. This study will analyze the frequency of occurrence of these factors with increasing age in this population. Methods: A descriptive cross-sectional study was conducted with 18 participants aged 30-45 years. The condition of orofacial structures, chewing and swallowing function and oral and eating habits were assessed to observe the frequency of occurrence of these problems with increasing age. Results: A high frequency of digestive problems was observed. There was also a presence of problems in the introduction of new tastes and consistencies. In addition, unilateral chewing was reported in 100% of the participants, severe anatomical dysfunction of the mandible/maxilla and high hypotonicity reflected in tongue movements. Conclusions: it is necessary to educate, through specific intervention protocols, the younger generations with DS, as well as their environment, as harmful habits are developed in childhood and consolidated throughout life.

TÍTULO / TITLE:   - Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group

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REVISTA / JOURNAL:    - Pediatr Diabetes. 2022 Mar 16. doi: 10.1111/pedi.13333. Online ahead of print.

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AUTORES / AUTHORS: - Thomas I Hewat, Thomas W Laver, Jayne A L Houghton , Jonna M E Mnnist, Sabah Alvi, Stephen P Brearey, Declan Cody, Antonia Dastamani, Miguel De Los Santos La Torre, Nuala Murphy, Birgit Rami-Merhar, Birgit Wefers, Hanna Huopio , Indraneel Banerjee,

INSTITUCIÓN / INSTITUTION: - Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK 

RESUMEN / SUMMARY: - Background: Hyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes. We noted a high number of individuals with Down syndrome referred for hyperinsulinism genetic testing, and therefore aimed to investigate whether the prevalence of Down syndrome was increased in our hyperinsulinism cohort compared to the population. Methods: We identified individuals with Down syndrome referred for hyperinsulinism genetic testing to the Exeter Genomics Laboratory between 2008 and 2020. We sequenced the known hyperinsulinism genes in all individuals and investigated their clinical features. Results: We identified 11 individuals with Down syndrome in a cohort of 2011 patients referred for genetic testing for hyperinsulinism. This represents an increased prevalence compared to the population (2.5/2011 expected vs. 11/2011 observed, p = 6.8 × 10-5 ). A pathogenic ABCC8 mutation was identified in one of the 11 individuals. Of the remaining 10 individuals, five had non-genetic risk factors for hyperinsulinism resulting from the Down syndrome phenotype: intrauterine growth restriction, prematurity, gastric/oesophageal surgery, and asparaginase treatment for leukaemia. For five individuals no risk factors for hypoglycaemia were reported although two of these individuals had transient hyperinsulinism and one was lost to follow-up. Conclusions: Down syndrome is more common in patients with hyperinsulinism than in the population. This is likely due to an increased burden of non-genetic risk factors resulting from the Down syndrome phenotype. Down syndrome should not preclude genetic testing as coincidental monogenic hyperinsulinism and Down syndrome is possible.

TÍTULO / TITLE:   - Electromyographic Study of Masticatory Muscle Function in Children with Down Syndrome

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REVISTA / JOURNAL:    - J Clin Med. 2022 Jan 20;11(3):506. doi: 10.3390/jcm11030506. Free PMC article

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AUTORES / AUTHORS: - Liliana Szyszka-Sommerfeld, Magdalena Sycińska-Dziarnowska, Monika Machoy, Sławomir Wilczyński, Marzia Maglitto, Mariangela Cernera, Gianrico Spagnuolo, Krzysztof Woźniak

INSTITUCIÓN / INSTITUTION: - Department of Orthodontics, Pomeranian Medical University in Szczecin, Al. Powst. Wlkp. 72, 70111 Szczecin, Poland 

RESUMEN / SUMMARY: - This study assessed the electrical activity of the masticatory muscles in both children with down syndrome (DS) and healthy children. After applying the inclusion and exclusion criteria, 30 patients aged between 7.9 and 11.8 years participated in the study. They were divided into two groups of 15: DS and non-DS. A DAB-Bluetooth device (Zebris Medical GmbH, Germany) was used to record the electromyographical (EMG) activity of the right and left temporal and of the right and left masseter muscles at rest and during maximum voluntary clenching (MVC). The asymmetry index between right and left masticatory muscle EMG activity was calculated for each position. The Mann-Whitney U test was applied to analyze the study results. There were no differences in the electrical activity of the temporal and masseter muscles at rest between the groups. During MVC, the asymmetry index for the masseter muscles was significantly higher in subjects with DS. The electrical potentials of the temporal and masseter muscles in children with DS were significantly lower compared to the corresponding parameters for healthy children when clenching.

TÍTULO / TITLE:   - Relationships between feeding problems, eating behaviours and parental feeding practices in children with Down syndrome: A cross-sectional study

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Mar;35(2):596-606. doi: 10.1111/jar.12972. Epub 2021 Dec 15.

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AUTORES / AUTHORS: - Samantha L Rogers, Bobbie Smith, Silvana E Mengoni

INSTITUCIÓN / INSTITUTION: - Centre for Research in Public Health and Community Care, University of Hertfordshire, Hatfield, UK. 

RESUMEN / SUMMARY: - Background: Research investigating feeding problems in children with Down syndrome is scarce. This study investigated feeding problems, eating behaviours and parental feeding practices in children with Down syndrome (n = 40), and typically developing (TD) children of the same age and sex (n = 40). Method: Parents of children aged 6-months to 5-years in the UK completed questionnaires assessing their child´s feeding problems and eating behaviours and parental feeding practices. Results: For children with Down syndrome, feeding problems were: significantly greater than for TD children; negatively associated with breast milk duration and appetite during exclusive milk feeding; and positively associated with drinking more slowly. For both groups, feeding problems were significantly correlated with more food avoidant eating behaviours. Conclusions: This study provides new information about the relationships between feeding problems and eating behaviours in early development. Longitudinal research is needed to further investigate these relationships, so that effective support can be developed for families.

TÍTULO / TITLE:   - Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down´s Syndrome

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REVISTA / JOURNAL:    - Front Endocrinol (Lausanne). 2022 Jan 4;12:782865. doi: 10.3389/fendo.2021.782865. eCollection 2021

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AUTORES / AUTHORS: - Kamila Szeliga, Aleksandra Antosz, Karolina Skrzynska, Barbara Kalina-Faska, Aleksandra Januszek-Trzciakowska, Aneta Gawlik

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics and Pediatric Endocrinology, Faculty of Medical Science, Medical University of Silesia, Katowice, Poland. 

RESUMEN / SUMMARY: - Introduction: Thyroid dysfunctions are one of the most common abnormalities coexisting in children with Downs syndrome (DS) and have been reported in up to 54% of cases. Aim of the study: The purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH. Material and methods: The records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively. The children diagnosed with congenital hypothyroidism, acute lymphoblastic leukemia, and seizures and treated with drugs that may have interfered with thyroid function like lithium, antiepileptic, or iodinated drugs and glucocorticoids were excluded from the study. Results: The data of 77 DS patients were collected, evaluated, and analyzed. The study group consisted of 73 patients (32 girls and 41 boys with the mean age at baseline of 3.0 ± 4.5 years). A total of 63/73 (87%) children were diagnosed with SH. The 16/63 (25.4%) patients were followed-up without the treatment (group SH-T0), and therapy with levothyroxine (L-T4) was introduced in 47/63 (74.6%) SH children with a mean dosage of 1.8 ± 1.0 μg/kg/day (group SH-T1). Thyroxine supplementation did not improve growth expressed as ΔhSDS (0.1 ± 1.3, ranged -2.1 to 3.8 in SH-T0 vs. 0.0 ± 0.7, ranged -1.7 to 1.4 in SH-T1, p = 0.96) and ΔBMI Z-score (0.3 ± 0.9, ranged -0.9 to 2.6 in SH-T0 vs. 0.3 ± 1.1, ranged -2.1 to 2.9 in SH-T1, p = 0.65). Positive anti-TPO and anti-TG antibodies were detected in 7/63 (11.1%) DS cases. Conclusions: SH is the most frequent presentation of thyroid gland dysfunction in DS children. A

TÍTULO / TITLE:   - Use of antioxidants supplementation on developmental outcomes in children with Down syndrome-A systematic review and meta-analyses

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REVISTA / JOURNAL:    - Child Care Health Dev. 2022 Mar;48(2):177-189. doi: 10.1111/cch.12918. Epub 2021 Nov 1

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AUTORES / AUTHORS: - Sidra Kaleem Jafri, Atiya Iqbal, Anusha Alam, Zohra Lassi, Julia Frei

INSTITUCIÓN / INSTITUTION: - Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan. 

RESUMEN / SUMMARY: - Background: The background of this study is to evaluate the published literature on the use of antioxidants in improving developmental outcomes in children with DS. Methods: The systematic review included interventional studies (randomized controlled trials [RCTs] and quasi-RCTs [q-RCTs]) of children aged 0 to 18 years diagnosed with DS who received antioxidants to improve developmental outcomes. Studies were excluded if they were interventional studies with non-random allocation or lack of control group or non-interventional studies including observational studies, systematic and narrative review articles, editorials and commentaries. Studies were also excluded if data from participants with DS were included as part of a larger group of participants (e.g., children with intellectual disability) and the data could not be separated for subgroup analysis, or if outcomes did not assess developmental domains (e.g., reported biochemical markers only). The review included children with other conditions associated with developmental disability, only when data for children with DS were separately reported. Results: Eleven RCTs and q-RCTs fulfilled the eligibility criteria with 683 participants with Down syndrome ranging in age from newborns to 17 years. Nine studies did not show any statistically significant clinical benefit of using antioxidants. Three studies were included in a meta-analysis comparing changes in the effect sizes (post and pre-intervention) in Global Developmental Quotient (GDQ) between the intervention and control groups. Conclusion: This review concludes that it is likely that the results are valid and suggest that the use of Antioxidant has no improvement in GDQ for children with DS. It is also unclear if any benefit exists for other developmental domains.

TÍTULO / TITLE:   - Red cell folate status among a subset of Canadian children with Down Syndrome post-fortification

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Mar 9. doi: 10.1111/jir.12925. Online ahead of print.

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AUTORES / AUTHORS: - J Jory

INSTITUCIÓN / INSTITUTION: - Department of Family Relations and Applied Nutrition, University of Guelph, MacDonald Institute, Guelph, Ontario, Canada. 

RESUMEN / SUMMARY: - Background: Trisomy 21 or Down Syndrome (DS) is associated with altered methylation pathways. Children with DS may therefore represent a population subgroup with vulnerability to increased exposures to folic acid, which is involved in one-carbon metabolism. Folic acid (FA) fortification of flour and maternal FA supplementation are intended to reduce neural tube defects related to folate deficiency. The interventions have been widely successful in Canada. Emerging evidence suggests that higher FA exposures may also have potential negative consequences, including implications for DNA methylation. This retrospective chart review provides insight on the red blood cell (RBC) folate status of a subset of Canadian children and infants with DS, post-fortification. Methods: Children with DS in two Canadian provinces were assessed in the community. Access to RBC folate testing was variable, limiting sample size to 39 (n = 27 for children ≤6 years; n = 12 for children 6-18 years). All children with DS and an RBC folate result were included. The use of FA-containing supplements and formula was documented. Results: Among children 6-18 years, 100% had RBC folates >1000 nmol/L, 50% were >2000 nmol/L and 25% had levels above the upper laboratory reporting limit. Among the younger children (<6 years), 52% had RBC folates >2000 nmol and 2 children exceeded 3000 nmol/L. Among exclusively breast-fed infants (<12 months), 100% had RBC folates >1000 nmol/L and 50% had levels >2000 nmol/L, suggestive of in-utero or maternal exposures. RBC folate status among this subset of Canadian children with DS is higher than documented for the larger Canadian population, and higher than among US children with DS. Conclusions: Young Canadian children with DS demonstrated high post-fortification RBC folate status. RBC folate status was higher than reported for the larger Canadian population, and higher than for US children with Down Syndrome. Consumption of folic acid-containing formula and/or su

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Hospital admissions in infants with Down syndrome: a record-linked population-based cohort study in Wales

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Mar;66(3):225-239. doi: 10.1111/jir.12903. Epub 2021 Dec 3.

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AUTORES / AUTHORS: - R A Esperanza, A Evans, D Tucker, S Paranjothy, L Hurt

INSTITUCIÓN / INSTITUTION: - School of Medicine, Cardiff University, Cardiff, UK. 

RESUMEN / SUMMARY: - Background: Despite recent advances, mortality in children with Down syndrome remains five times higher than in the general population. This study aims to describe the burden, patterns and causes of hospital admissions in infants with Down syndrome, and compare this with infants without Down syndrome in a population-based cohort. Methods: This study used data from the Wales Electronic Cohort for Children, a cohort of all children born in Wales between 1990 and 2012. The cohort was generated from routine administrative data, linked to create an anonymised data set within the Secure Anonymised Information Linkage databank. This analysis is based on all infants born between January 2003 and January 2012 who were followed to their first birthday, a move out of Wales, death, or until 31 October 2012 (end of follow-up). Infants with Down syndrome were identified using the Congenital Anomaly Register and Information Service in Wales. Multivariable Cox regression was used to compare the time to first hospital admission. Admission codes were used to identify the commonest indications for hospitalisation and to determine the presence of other congenital anomalies. Results: We included 324 060 children, 356 of whom had Down syndrome. Of infants with Down syndrome, 80.3% had at least one hospital inpatient admission during the first year of life, compared with 32.9% of infants without Down syndrome. These first admissions were earlier [median of 6 days interquartile range (IQR) (3, 72) compared with 45 days [IQR 6, 166)] and longer [median of 4 days (IQR 1, 15) compared with 1 day (IQR 0, 3)] than in infants without Down syndrome. The most common causes of admissions were congenital abnormalities, respiratory diseases, conditions originating in the perinatal period and infectious diseases. The presence of other congenital abnormalities increased hospitalisations in all infants, but more so in infants with Down syndrome who spent a median of 21 days in hospital (IQR 11, 47) duri

TÍTULO / TITLE:   - Causes of death in patients with Down syndrome in 2014-2016: A population study in Japan

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Jan;188(1):224-236. doi: 10.1002/ajmg.a.62526. Epub 2021 Oct 7.

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AUTORES / AUTHORS: - Narumi Motegi, Yui Yamaoka, Akinori Moriichi, Naho Morisaki

INSTITUCIÓN / INSTITUTION: - Department of Specific Pediatric Chronic Disease Information, National Center for Child Health and Development, Tokyo, Japan. 

RESUMEN / SUMMARY: - Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014-2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92-84.12]), early-onset Alzheimers disease, defined as Alzheimers disease with onset <65 years of age (29.36 [16.44-52.44]), aspiration pneumonia (18.33 [14.03-23.96]), pneumonia/respiratory infections (8.11 [6.76-9.73]), congenital malformations of the circulatory system (8.07 [5.98-10.88]), and leukemia/lymphoma (2.16 [1.55-2.99]) but lower for malignant solid tumors (0.04 [0.02-0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimers disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.

TÍTULO / TITLE:   - Factors associated with the reporting of Down syndrome as the underlying cause of death on US death certificates

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Feb 21. doi: 10.1111/jir.12926. Online ahead of print.

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AUTORES / AUTHORS: - S D Landes, M A Turk, J M Finan

INSTITUCIÓN / INSTITUTION: - Department of Sociology and Aging Studies Institute, Maxwell School of Citizenship and Public Affairs, Syracuse University, Syracuse, NY, USA. 

RESUMEN / SUMMARY: - Background: Efforts aimed at preventing premature mortality for people with Down syndrome are hindered by the practice of reporting disability as the underlying cause of death. Prior research suggests this form of diagnostic overshadowing may be the result of increased uncertainty surrounding the death. Methods: This study uses bivariable analysis and multivariable logistic regression models to investigate associations between sociodemographic characteristics, comorbidities, and death context and processing characteristics with the reporting of Down syndrome as the underlying cause of death in 2005-2017 US Multiple Cause of Death data files. Results: The reporting of Down syndrome as the underlying cause of death was associated with characteristics indicative of an increased amount of uncertainty surrounding the death. Results also suggest other mechanisms may inform inaccurate reporting, such as racial bias, and the continued conflation of disability and health. Conclusions: Medical personnel certifying death certificates should strive for accuracy when reporting the causes of death. To ensure this outcome, even in the midst of increased uncertainty, Down syndrome should not be reported as the underlying cause of death unless the decedent was diagnosed with Alzheimers disease or unspecified dementia. Future research should further explore the possibility that increased death certification errors for adults with Down syndrome, or other developmental disabilities, are associated with racial bias.

TÍTULO / TITLE:   - Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis

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REVISTA / JOURNAL:    - Birth Defects Res. 2022 Jan 15;114(2):57-61. doi: 10.1002/bdr2.1975. Epub 2021 Dec 23. Free PMC art

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AUTORES / AUTHORS: - Erin B Stallings, Jennifer L Isenburg, Dominique Heinke, Stephanie L Sherman, Russell S Kirby, Philip J Lupo, National Birth Defects Prevention Network

INSTITUCIÓN / INSTITUTION: - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA. 

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) have a higher prevalence of additional congenital anomalies, especially cardiovascular defects, compared to the general population. Several reports have indicated that the prevalence of DS among live births varies by race and ethnicity within the United States. We aim to examine variations in co-occurring congenital anomalies by maternal race/ethnicity among infants and fetuses diagnosed with DS born during 2013-2017. Methods: State birth defect surveillance systems (N = 12) submitted data on infants and fetuses diagnosed with DS born during 2013-2017. We calculated the prevalence of co-occurring major and minor congenital anomalies, by organ system, and four selected cardiovascular birth defects, all stratified by maternal race/ethnicity. Results: Among 5,836 cases of DS, 79.7% had one or more co-occurring congenital anomalies. There was a higher percentage of co-occurring congenital anomalies among infants and fetuses born to Hispanic mothers. The lowest percentage of co-occurring congenital anomalies, including three out of the four individual cardiovascular conditions examined, was among infants/fetuses born to non-Hispanic American Indian/Alaska Native mothers. Conclusions: We describe differences in DS co-occurrence with additional congenital anomalies among maternal racial/ethnic groups. These data may help focus future research on differences among racial/ethnic groups in the diagnosis and reporting of co-occurring congenital anomalies in infants/fetuses diagnosed with DS.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Hirschsprung Disease in Down Syndrome: An Opportunity for Improvement

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REVISTA / JOURNAL:    - J Pediatr Surg. 2022 Feb 13;S0022-3468(22)00131-2. doi: 10.1016/j.jpedsurg.2022.01.065. Online ah

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AUTORES / AUTHORS: - Rebecca A Saberi, Gareth P Gilna, Blaire V Slavin, Carlos T Huerta, Walter A Ramsey, Christopher F ONeil Jr, Eduardo A Perez, Juan E Sola, Chad M Thorson

INSTITUCIÓN / INSTITUTION: - DeWitt Daughtry Family Department of Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, FL, USA. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is the most common abnormality associated with Hirschsprung disease (HD). It has been suggested patients with HD and DS have worse outcomes, however the literature is controversial. Methods: The Kids Inpatient Database (KID) from 2003 to 2012 was used to identify newborns with HD. Demographics, hospital characteristics, and outcomes were compared among patients with and without DS using standard statistical tests. Results: There were 481 patients identified with HD, of which 45 (9%) had DS. Patients with DS were older at the time of first rectal biopsy (6 [3-11] days vs. 4 [3-6] days, p = 0.012). There were no differences in operative versus non-operative management in patients with and without DS (p = 0.706). Hospital length of stay was longer in the DS cohort (22 [13-33] days vs. 15 [10-24] days, p = 0.019), and patients with DS were more likely to have a concomitant diagnosis of wound infection (<12% vs. 3%, p = 0.002) and necrotizing enterocolitis (<14% vs. 5%, p = 0.018). The mortality rate for patients with DS was four times higher than those without DS (< 5% vs. < 0.8%, p = 0.018). Conclusion: In this nationwide cohort of patients with Hirschsprung disease, those with Down syndrome experienced delays in diagnosis and worse outcomes.

TÍTULO / TITLE:   - Gastrostomy Tube Placement and Resource Use in Neonatal Hospitalizations With Down Syndrome

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REVISTA / JOURNAL:    - Hosp Pediatr. 2022 Mar 10;e2021006102. doi: 10.1542/hpeds.2021-006102. Online ahead of print.

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AUTORES / AUTHORS: - Harshit Doshi, Samarth Shukla, Shalinkumar Patel, Parth Bhatt, Neel Bhatt, Comfort Anim-Koranteng, Akosua Ameley, Bernice Biney, Fredrick Dapaah-Siakwan, Keyur Donda

INSTITUCIÓN / INSTITUTION: - Pediatrix Medical Group of Florida, Sunrise, Florida. 

RESUMEN / SUMMARY: - : Objectives: To determine the trends in gastrostomy tube (GT) placement and resource utilization in neonates ≥35 weeks gestational age with Down syndrome (DS) in the United States from 2006 to 2017. Methods: This was a serial cross-sectional analysis of neonatal hospitalizations of ≥35 weeks gestational age with International Classification of Diseases diagnostic codes for DS within the National Inpatient Sample. International Classification of Diseases procedure codes were used to identify those who had GT. The outcomes of interest were the trends in GT and resource utilization and the predictors of GT placement. Cochran-Armitage and Jonckheere-Terpstra trend tests were used for trend analysis of categorical and continuous variables, respectively. Predictors of GT placement were identified using multivariable logistic regression. P value <.05 was considered significant. Results: Overall, 1913 out of 51 473 (3.7%) hospitalizations with DS received GT placement. GT placement increased from 1.7% in 2006 to 5.6% in 2017 (P <.001), whereas the prevalence of DS increased from 10.3 to 12.9 per 10 000 live births (P <.001). Median length of stay significantly increased from 35 to 46 days, whereas median hospital costs increased from $74 214 to $111 360. Multiple comorbidities such as prematurity, sepsis, and severe congenital heart disease were associated with increased odds of GT placement. Conclusions: There was a significant increase in GT in neonatal hospitalizations with DS, accompanied by a significant increase in resource utilization. Multiple comorbidities were associated with GT placement and the early identification of those who need GT could potentially decrease length of stay and resource use.

TÍTULO / TITLE:   - Food Protein-Induced Enterocolitis Syndrome in Children with Down Syndrome: A Pilot Case-Control Study

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REVISTA / JOURNAL:    - Nutrients. 2022 Jan 17;14(2):388. doi: 10.3390/nu14020388. Free PMC article

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AUTORES / AUTHORS: - Fumiko Okazaki, Hiroyuki Wakiguchi, Yuno Korenaga, Kazumasa Takahashi, Hiroki Yasudo, Ken Fukuda, Mototsugu Shimokawa, Shunji Hasegawa

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan. 

RESUMEN / SUMMARY: - Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobin E-mediated food hypersensitivity disorder. However, little is known about the clinical features of FPIES in patients with Down syndrome (DS). Medical records of children with DS diagnosed at our hospital between 2000 and 2019 were retrospectively reviewed. Among the 43 children with DS, five (11.6%) were diagnosed with FPIES; all cases were severe. In the FPIES group, the median age at onset and tolerance was 84 days and 37.5 months, respectively. Causative foods were cows milk formula and wheat. The surgical history of colostomy was significantly higher in the FPIES group than in the non-FPIES group. A colostomy was performed in two children in the FPIES group, both of whom had the most severe symptoms of FPIES, including severe dehydration and metabolic acidosis. The surgical history of colostomy and postoperative nutrition of formula milk feeding may have led to the onset of FPIES. Therefore, an amino acid-based formula should be considered for children who undergo gastrointestinal surgeries, especially colostomy in neonates or early infants. When an acute gastrointestinal disease is suspected in children with DS, FPIES should be considered. This may prevent unnecessary tests and invasive treatments.

TÍTULO / TITLE:   - Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome

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REVISTA / JOURNAL:    - Pediatr Int. 2022 Jan;64(1):e14732. doi: 10.1111/ped.14732. Epub 2021 Nov 22.

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AUTORES / AUTHORS: - Naoki Kajita, Hiroshi Futagawa, Hiroshi Yoshihashi, Koichi Yoshida, Masami Narita

INSTITUCIÓN / INSTITUTION: - Division of Allergy, Tokyo Metropolitan Childrens Medical Center, Tokyo, Japan. 

RESUMEN / SUMMARY: -

Genetics - Genética

TÍTULO / TITLE:   - A reassessment of Jacksons checklist and identification of two Down syndrome sub-phenotypes

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REVISTA / JOURNAL:    - Sci Rep. 2022 Feb 24;12(1):3104. doi: 10.1038/s41598-022-06984-0. Free PMC article

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AUTORES / AUTHORS: - Chiara Locatelli, Sara Onnivello, Caterina Gori, Giuseppe Ramacieri, Francesca Pulina, Chiara Marcolin, Renzo Vianello, Beatrice Vione, Maria Caracausi, Maria Chiara Pelleri, Lorenza Vitale, Gian Luca Pirazzoli, Guido Cocchi, Luigi Corvaglia, Pierlui

INSTITUCIÓN / INSTITUTION: - Neonatology Unit, St. Orsola-Malpighi Polyclinic, Via Massarenti 9, 40138, Bologna, BO, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical diagnosis of DS; the utility of these checklists in improving the accuracy of clinical diagnosis has been recently reaffirmed, but they have rarely been revised. The purpose of this work is to reassess the characteristic phenotypic signs and their frequencies in 233 DS subjects, following Jacksons checklist. 63.77% of the subjects showed more than 12 signs while none showed less than 5, confirming the effectiveness of Jacksons checklist for the clinical diagnosis of DS. An association between three phenotypic signs emerged, allowing us to distinguish two sub-phenotypes: Brachycephaly, short and broad Hands, short Neck (BHN), which is more frequent, and "non-BHN". The strong association of these signs might be interpreted in the context of the growth defects observed in DS children suggesting decreased cell proliferation. Lastly, cognitive assessments were investigated for 114 subjects. The lack of association between the presence of a physical sign or the number of signs present in a subject and cognitive skills disproves the stereotype that physical characteristics are predictive of degree of ID.

TÍTULO / TITLE:   - Down Syndrome Candidate Region 1 Isoform 1L regulated tumor growth by targeting both angiogenesis and tumor cells

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REVISTA / JOURNAL:    - Microvasc Res. 2022 Mar;140:104305. doi: 10.1016/j.mvr.2021.104305. Epub 2021 Dec 24.

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AUTORES / AUTHORS: - Chen Chen, Pengfei Cui, Kevin Zhao, Gengming Niu, Shiqiang Hou, Dezheng Zhao, Huiyan Zeng

INSTITUCIÓN / INSTITUTION: - Center for Vascular Biology Research and Division of Gastroenterology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA 

RESUMEN / SUMMARY: - : Angiogenesis is critical for solid tumor growth beyond its minimal size. Previously, we reported that Down Syndrome Candidate Region 1 isoform 1L (DSCR1-1L) was one of the most up-regulated genes in endothelial cells induced by VEGF and histamine, and regulated endothelial cell proliferation, migration and angiogenesis. However, it was not known whether DSCR1-1L played a role in tumor growth. In this study, we found that DSCR1-1L shRNAs significantly inhibited the growth of transplanted melanoma in mice and its associated tumoral angiogenesis. In the gain of function assay, overexpression of DSCR1-1L cDNA in mouse endothelium is sufficient to significantly increase the tumor initiation induced by carcinogen, the growth of xenografted tumor, and the tumor metastasis in our endothelially-expressed DSCR1-1L transgenic mice, in which angiogenesis was induced. It was the first time to find that DSCR1-1L was also expressed in various tumor cells. DSCR1-1L shRNAs inhibited, but overexpression of DSCR1-1L cDNA increased, the tumor cell proliferation and migration. Most recently, we reported that DSCR1-1L modulated angiogenesis by down-regulation of VE-cadherin expression. Here, we found that DSCR1-1L down-regulated the expression of E-cadherin. Hence, DSCR1-1L is an excellent therapeutic target for cancers by regulation of both the endothelial and tumor cells through down-regulating (V)E-cadherin. DSCR1-1L shRNAs have the potential to be developed for clinical application.

TÍTULO / TITLE:   - Prenatal NeuN+ neurons of Down syndrome display aberrant integrative DNA methylation and gene expression profiles

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REVISTA / JOURNAL:    - Epigenomics. 2022 Mar 2. doi: 10.2217/epi-2021-0523. Online ahead of print.

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AUTORES / AUTHORS: - Peter Henneman, Adri N Mul, Andrew Yf Li Yim, Izabela M Krzyzewska, Marille Alders, Adelia Adelia, Mark R Mizee, Marcel M Mannens

INSTITUCIÓN / INSTITUTION: - Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, Amsterdam, AZ, 1105, The Netherlands. 

RESUMEN / SUMMARY: - Aim: To detect expression quantitative trait methylation (eQTM) loci within the cerebrum of prenatal Down syndrome (DS) and controls. Material & methods: DNA methylation gene expression profiles were acquired from NeuN+ nuclei, obtained from cerebrum sections of DS and controls. Linear regression models were applied to both datasets and were subsequently applied in an integrative analysis model to detect DS-associated eQTM loci. Results & conclusion: Widespread aberrant DNA methylation and gene expression were observed in DS. A substantial number of differentially methylated loci were replicated according to a previously reported study. Subsequent integrative analyses (eQTM) yielded numerous associated DS loci. the authors associated DNA methylation, gene expression and eQTM loci with DS that may underlie particular DS phenotypical characteristics.

TÍTULO / TITLE:   - Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome

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REVISTA / JOURNAL:    - J Pediatr. 2022 Jan 31;S0022-3476(22)00065-8. doi: 10.1016/j.jpeds.2022.01.034. Online ahead of prin

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AUTORES / AUTHORS: - Shaji Thomas John Kizhanipurath Gayathr, Kalpathy Vaidyanathan Sahasranam

INSTITUCIÓN / INSTITUTION: - Down Syndrome Clinic, Baby Memorial Hospital, Kozhikode, Kerala, India. 

RESUMEN / SUMMARY: - Objectives: To study the cytogenetic patterns, congenital heart disease, and thyroid dysfunction in children with Down syndrome. Study design: This was a retrospective observational study of children with Down syndrome over a period of 20 years, from a major referral institution in Kerala state, South India. The cytogenetic patterns, echocardiography reports, and thyroid profiles were analyzed using SPSS, version 20, software. The prevalence of heart disease and thyroid status in the various cytogenetic patterns also were analyzed. Results: The prevalence of translocation (9.45%) was high compared with the reported 4% in the literature. More of the younger mothers had translocation with a greater, but not statically significant, incidence of heart disease. Mosaic karotypes (3.04%) were also greater than reported (1%) in the literature, with female preponderance. Heart disease was seen in 58% of cases, with atrial septal defect being the most common lesion, compared with atrioventricular septal defect noted in literature. Hypothyroidism was noted in 31.2% with no difference among the cytogenetic groups. There was no case of hyperthyroidism. Conclusions: The high prevalence of translocation and mosaic Down syndrome stresses the need for routine karyotyping in children with Down syndrome. The need for routine screening and regular follow up of heart diseases and thyroid status should be emphasized.

TÍTULO / TITLE:   - Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion

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REVISTA / JOURNAL:    - Hum Cell. 2022 Feb 26.doi: 10.1007/s13577-022-00686-5. Online ahead of print

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AUTORES / AUTHORS: - Carolina Monteiro Leite de Castro, Carolina Oliveto Bastos Pereira, Joissy Aprigio, Marcelo A Costa Lima, Marcia G Ribeiro, Marcia Rodrigues Amorim

INSTITUCIÓN / INSTITUTION: - Laboratorio de Genetica Humana, Departamento de Biologia Geral, Instituto de Biologia, Universidade Federal Fluminense, Rua Prof. Marcos Waldemar de Freitas Reis-São Domingos, Niterói, RJ, 24210-201, Brazil. 

RESUMEN / SUMMARY: - Aneuploidies, such as Down syndrome (DS), are the leading cause of pregnancy loss. Abnormalities in aurora kinase proteins result in genomic instability and aneuploidy, mainly in tumors. Thus, polymorphisms in Aurora kinase genes could influence the occurrence of DS and spontaneous abortion. A case-control study was conducted including 124 mothers of DS children (DSM) and 219 control mothers (CM) to investigate DS risk according to AURKA and AURKC polymorphisms. Genotyping was performed using TaqMan real-time PCR. The minor allele frequency (MAF) observed in AURKA rs2273535 was, respectively, 0.23 in DSM and 0.20 in CM, whereas the frequency of the AURKC rs758099 T allele was 0.32 in case and 0.33 in control mothers. Statistical analysis showed no significant difference in the distribution of genotypes and allele frequencies between DSM and CM. According to previous history of spontaneous abortion, the AURKA rs2273535 genotypes (TT + AT vs. AA: OR 2.54, 95% CI 1.13-5.71, p = 0.02; AT vs. AA: OR 2.39, 95% CI 1.03-5.51, p = 0.04; T vs. A: OR 2.08, 95% CI 1.12-3.90, p = 0.02) and AURKC rs758099 (TT vs. CC: OR 4.34, 95% CI 1.03-18.02, p = 0.04; TT + CT vs. CC: OR 2.52, 95% CI 1.02-6.23, p = 0.04; T vs. C: OR 2.03, 95% CI 1.09-3.80, p = 0.02) were observed as risk factors for spontaneous abortion in case mothers. Our study suggests a possible relationship between AURKA/AURKC variants and increased risk of spontaneous abortion within Down syndrome mothers.

TÍTULO / TITLE:   - Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis

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REVISTA / JOURNAL:    - Medicine (Baltimore). 2022 Jan 21;101(3):e28293. doi: 10.1097/MD.0000000000028293. Free PMC article

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AUTORES / AUTHORS: - Carla Talita Azevedo Ginani, Jefferson Romaryo Duarte da Luz, Saulo Victor E Silva, Fabio Coppede, Maria das Gracas Almeida

INSTITUCIÓN / INSTITUTION: - Post-graduation Program in Health Sciences, Federal University of Rio Grande do Norte, Health Sciences Center, Natal, Rio Grande do Norte, Brazil. 

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. Maternal polymorphisms of genes required for folate metabolism are the most investigated risk factors for the birth of children with DS. Through this review, we sought to investigate the association of the polymorphisms "C677T" and "A1298C" of the MTHFR gene with maternal risk for DS. Methods: We will use the databases PubMed, Embase, Scopus and Web of Science to search for case-control studies published from 1999 up to September 2021 without language restriction. Results will be presented as relative risks and 95% confidence intervals for dichotomous outcomes and mean differences, or standardized mean differences along with 95% confidence intervals, for continuous outcomes. The all data synthesis will be analyzed on the Review Manager 5.2 version software. Results: This study will be able to clarify all the doubts we seek and that it will be able to provide accurate data that will be able to describe how these polymorphisms can act to increase the predisposition for the birth of children with DS in different populations and under different dietary conditions. Conclusions: This study will clarify the relationship between C677T and A1298C polymorphisms MTHFR gene with increased the maternal risk for Down syndrome.

TÍTULO / TITLE:   - Maternal Risk Factors Triggering Congenital Heart Defects in Down Syndrome: A Case-Control Study

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REVISTA / JOURNAL:    - Pediatr Rep. 2022 Feb 28;14(1):99-105. doi: 10.3390/pediatric14010015. Free PMC article

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AUTORES / AUTHORS: - Ambreen Asim, Sarita Agarwal, Deepika Delsa Dean

INSTITUCIÓN / INSTITUTION: - Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India. 

RESUMEN / SUMMARY: - Objectives: Maternal MTHFR and MTRR polymorphisms as a risk of CHD in DS fetus were studied along with maternal folic acid supplementation, which could influence the folate metabolism along with other risk factors. Material and methods: A case-control study comprising of mothers of DS with and without CHD along with controls were recruited from a tertiary care center since 2018-2019. Genomic DNA was isolated followed by PCR-RFLP. Results: Mothers with age ≥35 years and having history of miscarriages have a higher risk of giving birth to DS with CHD (n = 35% and 42%, respectively). Mothers who carried the MTHFR 677CT/TT and MTRR 524CT/TT genotypes combination in the folic acid nonusers group during pregnancies had six-fold (OR = 6.909, p-value = 0.027; 95% CI-1.23 38.51) and four-fold (OR = 4.75, p-value = 0.040; 95% CI-1.067 . 21.44) increased odds of having a DS child with CHD, respectively, as compared to folic acid users. Conclusion: Maternal age, folic acid supplementation, and previous history of miscarriages is involved in the etiology of CHD in DS fetus in Indian population. Maternal MTHFR and MTRR polymorphisms are also involved in the occurrence of CHD and DS in Indian population when controlling for periconceptional folic acid supplementation.

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Auricular anthropometric growth study in individuals with trisomy 21

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REVISTA / JOURNAL:    - J Plast Reconstr Aesthet Surg. 2022 Jan 31;S1748-6815(22)00051-1. doi: 10.1016/j.bjps.2022.01.042.

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AUTORES / AUTHORS: - Utku Yilmaz, Ahmet Mutlu, Fatih Mehmet Hanege, Begum Yilmaz, Mahmut Tayyar Kalcioglu

INSTITUCIÓN / INSTITUTION: - Istanbul Medeniyet University Faculty of Medicine, Istanbul, Turkey; Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Turkey. 

RESUMEN / SUMMARY: - In this study, we aimed to measure the auricle dimensions of individuals with Down syndrome, which are known to have different anomalies, and to evaluate the auricle development from birth. A total of 18 groups were formed, consisting of individuals from the neonatal period to age 18 years. Additionally, individuals older than 18 years old were added as an adult group (19 groups in total). Each group has 20 individuals. Measurements were taken in six dimensions. These measurements included the distance from the suprahelix to infralobule (A), helix to tragus (B), antihelix to tragus (C), conchal attachment point to tragus (D), suprahelix to the mastoid, (E), and helix to mastoid at the tragus level (F). It was found that the A value reached adult size at the age of 13 in both boys and girls. For the B, D, and E values, it was found that sizes reach the adult size at the ages of 5, 8, and 7 for both genders, respectively. The C value reached adult size in boys by age 1, but there was no significant difference for girls between the adult and any age value. It was found that the F value reached the adult size at age of 4 for boys and 5 for girls. These results may be a guide for individuals with Down syndrome in terms of the surgical timing of the auricle if necessary.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Hematological disorders in children with Down syndrome

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REVISTA / JOURNAL:    - Expert Rev Hematol. 2022 Feb 28;1-9. doi: 10.1080/17474086.2022.2044780. Online ahead of print.

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AUTORES / AUTHORS: - Silvia Triarico, Giovanna Trombatore, Michele Antonio Capozza, Alberto Romano, Stefano Mastrangelo, Giorgio Attin, Palma Maurizi, Antonio Ruggiero

INSTITUCIÓN / INSTITUTION: - Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy 

RESUMEN / SUMMARY: - Introduction: Hematological abnormalities are common in children with down syndrome (DS), mainly during childhood. Areas covered: DS newborns can develop hematological benign conditions that resolve spontaneously within 1 -2 months. However, about 10% of them can present transient abnormal myelopoiesis (TAM), characterized by the presence of circulating blasts. About 80% of DS neonates with TAM undergo spontaneous resolution of both clinical and laboratory abnormalities within 3-6 months after birth. However, some newborns with TAM may develop acute myeloid leukemia associated with DS (ML-DS), usually after an interval without signs of leukemia. GATA1 mutations are stable molecular markers that may monitor the presence of minimal residual disease (MRD) after TAM resolution. Moreover, DS children have a 10-20-fold increased risk of developing acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The predisposition to develop leukemia occurs both in children with complete trisomy 21 and in those with mosaic trisomy, suggesting an important role of chromosome 21 in leukemogenesis. Expert opinion: In contrast to the excellent prognosis of ML-DS obtained likewise with low doses of chemotherapy, DS-ALL patients show worse outcomes than non-DS children, therefore advances and risk-stratified treatment adjustments are mandatory for this particular set of patients.

TÍTULO / TITLE:   - Modeling Down Syndrome Myeloid Leukemia by Sequential Introduction of GATA1 and STAG2 Mutations in Induced Pluripotent Stem Cells with Trisomy 21

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REVISTA / JOURNAL:    - Cells. 2022 Feb 11;11(4):628. doi: 10.3390/cells11040628. Free PMC article

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AUTORES / AUTHORS: - Sonali P Barwe, Aimy Sebastian, Ishnoor Sidhu, Edward Anders Kolb, Anilkumar Gopalakrishnapillai

INSTITUCIÓN / INSTITUTION: - Nemours Centers for Childhood Cancer Research & Cancer and Blood Disorders, Nemours Childrens Health, Wilmington, DE 19803, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) have a high risk for acute myeloid leukemia (DS-ML). Genomic characterization of DS-ML blasts showed the presence of unique mutations in GATA1, an essential hematopoietic transcription factor, leading to the production of a truncated from of GATA1 (GATA1s). GATA1s, together with trisomy 21, is sufficient to develop a pre-leukemic condition called transient abnormal myelopoiesis (TAM). Approximately 30% of these cases progress into DS-ML by acquisition of additional somatic mutations in a stepwise manner. We previously developed a model for TAM by introducing disease-specific GATA1 mutation in trisomy 21-induced pluripotent stem cells (iPSCs), leading to the production of N-terminally truncated short form of GATA1 (GATA1s). In this model, we used CRISPR/Cas9 to introduce a co-operating mutation in STAG2, a member of the cohesin complex recurrently mutated in DS-ML but not in TAM. Hematopoietic differentiation of GATA1 STAG2 double-mutant iPSC lines confirmed GATA1s expression and the loss of functional STAG2 protein, leading to enhanced production of immature megakaryocytic population compared to GATA1 mutant alone. Megakaryocyte-specific lineage expansion of the double-mutant HSPCs exhibited close resemblance to the DS-ML immunophenotype. Transcriptome analysis showed that GATA1 mutation resulted in downregulation of megakaryocytic and erythrocytic differentiation pathways and interferon α/β signaling, along with an upregulation of pathways promoting myeloid differentiation such as toll-like receptor cascade. The co-occurrence of STAG2 knockout partially reverted the expression of genes involved in myeloid differentiation, likely leading to enhanced self-renewal and promoting leukemogenesis. In conclusion, we developed a DS-ML model via hematopoietic differentiation of gene-targeted iPSCs bearing trisomy 21.

TÍTULO / TITLE:   - Risks of late mortality and morbidity among survivors of childhood acute leukemia with Down syndrome: A population-based cohort study

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REVISTA / JOURNAL:    - Cancer. 2022 Mar 15;128(6):1294-1301. doi: 10.1002/cncr.34042. Epub 2021 Nov 30.

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AUTORES / AUTHORS: - Sumit Gupta, Rinku Sutradhar, Priscila Pequeno, Johann K Hitzler, Ning Liu, Paul C Nathan

INSTITUCIÓN / INSTITUTION: - Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. 

RESUMEN / SUMMARY: - Background: Children with leukemia and Down syndrome (DS) are at higher risk of acute treatment toxicities than those without DS. Whether late toxicity risks are also elevated is unknown. Methods: The authors identified all patients diagnosed with leukemia before the age of 18 years in Ontario, Canada between 1987 and 2013 and who survived greater than 5 years since their last pediatric cancer event. Survivors were divided into those with and without DS, matched by birth year, sex, leukemia type, and receipt of radiation. DS survivors were matched to individuals with DS without childhood cancer (DS controls) in a 1:10 ratio. Outcomes were identified through linkage to population-based health services databases. Results: DS survivors (n = 79) experienced inferior overall survival compared to non-DS survivors (n = 231) (20-year overall survival, 81.7% ± 6.8% vs 98.3% ± 1.2%; hazard ratio [HR], 12.8; P < .0001) and to DS controls (n = 790; 96.3% ± 1.2%; HR, 5.4 P < .0001). Pulmonary and infectious deaths were noted among DS survivors. There was no difference in the incidence of congestive heart failure between DS survivors and either control cohort, nor of hearing loss or dementia between DS survivors and DS controls. Conclusions: DS survivors were at substantially higher risk of late mortality than non-DS survivors or DS controls. This excess risk was not attributable to cardiac- or subsequent malignant neoplasm-related late effects, historically main causes of premature death among non-DS survivors. Chronic morbidities associated with DS were not increased compared to DS controls. DS-specific surveillance guidelines may be warranted.

TÍTULO / TITLE:   - Trib1 promotes the development of acute myeloid leukemia in a Ts1Cje mouse model of Down syndrome

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REVISTA / JOURNAL:    - Leukemia. 2022 Feb;36(2):558-561. doi: 10.1038/s41375-021-01384-1. Epub 2021 Aug 11.

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AUTORES / AUTHORS: - Seiko Yoshino, Miwa Tanaka, Yoshitaka Sunami, Tomoko Takahara, Yukari Yamazaki, Mizuki Homme, Akiko Niibori-Nambu, Motomi Osato, Takashi Minami, Keiichi Ishihara, Takuro Nakamura

INSTITUCIÓN / INSTITUTION: - Division of Carcinogenesis, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - HMGN1 plays a significant role in CRLF2 driven Down Syndrome leukemia and provides a potential therapeutic target in this high-risk cohort

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REVISTA / JOURNAL:    - Oncogene. 2022 Feb;41(6):797-808. doi: 10.1038/s41388-021-02126-4. Epub 2021 Dec 2.

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AUTORES / AUTHORS: - Elyse C Page2, Susan L Heatley4, Laura N Eadie, Barbara J McClure, Charles E de Bock, Sofia Omari, David T Yeung, Timothy P Hughes, Paul Q Thomas, Deborah L White

INSTITUCIÓN / INSTITUTION: - Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia. 

RESUMEN / SUMMARY: - The genetic basis of the predisposition for Down Syndrome (DS) patients to develop cytokine receptor-like factor 2 rearranged (CRLF2r) acute lymphoblastic leukemia (ALL) is currently unknown. Genes located on chromosome 21 and expressed in hematopoietic cells are likely candidates for investigation of CRLF2r DS-ALL pathogenesis. We explored the high-mobility group nucleosome-binding protein 1 (HMGN1), located in the DS critical region, in an inducible CRISPR/Cas9 knockout (KO) xenograft model to assess the effect of HMGN1 loss of function on the leukemic burden. We demonstrated HMGN1 KO-mitigated leukemic phenotypes including hepatosplenomegaly, thrombocytopenia, and anemia, commonly observed in leukemia patients, and significantly increased survival in vivo. HMGN1 overexpression in murine stem cells and Ba/F3 cells in vitro, in combination with P2RY8-CRLF2, resulted in cytokine-independent transformation and upregulation of cell signaling pathways associated with leukemic development. Finally, in vitro screening demonstrated successful targeting of P2RY8-CRLF2 and HMGN1 co-expressing cell lines and patient samples with fedratinib (JAK2 inhibitor), and GSK-J4 (demethylase inhibitor) in combination. Together, these data provide critical insight into the development and persistence of CRLF2r DS-ALL and identify HMGN1 as a potential therapeutic target to improve outcomes and reduce toxicity in this high-risk cohort of young patients.

TÍTULO / TITLE:   - Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome

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REVISTA / JOURNAL:    - Int J Lab Hematol. 2022 Apr;44(2):349-355. doi: 10.1111/ijlh.13756. Epub 2021 Nov 10.

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AUTORES / AUTHORS: - Shumpei Mizuta, Noriko Yamane, Saya Mononobe, Asami Watanabe, Ritsuko Kitamura, Tadamori Takahara, Chieko Matsushima, Atushi Yoshida, Seiji Okamoto, Kuniaki Tanaka, Atsushi Iwai, Atsuko Ikegawa, Takahito Wada, Ikuya Usami, Toshiro Maihara, Takao K

INSTITUCIÓN / INSTITUTION: - Department of Clinical Laboratory, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Japan. 

RESUMEN / SUMMARY: - Introduction: GATA1 mutation plays an important role in initiating transient abnormal myelopoiesis (TAM) and in the clonal evolution towards acute megakaryoblastic leukaemia (AMKL) associated with Down syndrome (DS). This study aimed to develop and validate the clinical utility of a complementary DNA (cDNA) analysis in parallel with the conventional genomic DNA (gDNA) Sanger sequencing (Ss), as an initial screening test for GATA1 mutations. Methods: GATA1 mutations were evaluated using both gDNA and cDNA in 14 DS patients using Ss and fragment analysis (FA), respectively.Results: The detection sensitivity of conventional gDNA sequencing was limited in low blast percentage TAM (LBP-TAM); however, cDNA-based Ss readily detected all the pathognomonic GATA1 mutations. The cDNA-based FA readily detected GATA1 frameshift mutation with a reliable sensitivity ranging from 0.005% to 0.01% of clonal cells. Conclusions: GATA1 mutations are heterogeneous; therefore, we would like to propose a dual cDNA and gDNA analysis as a standard diagnostic approach, especially for LBP-TAM. cDNA-based FA promises an excellent sensitivity for detecting frameshift GATA1 mutations in the longitudinal clonal evolution towards AMKL without using a patient specific primer.

TÍTULO / TITLE:   - CRLF2 overexpression results in reduced B cell differentiation and upregulated E2F signaling in the Dp16 mouse model of Down syndrome

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REVISTA / JOURNAL:    - Exp Hematol. 2022 Mar 16;S0301-472X(22)00127-8. doi: 10.1016/j.exphem.2022.03.005. Online ahead

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AUTORES / AUTHORS: - Jacob J Junco, Barry Zorman, Vincent U Gant Jr, Jaime Muñoz, H Daniel Lacorazza, Pavel Sumazin, Karen R Rabin

INSTITUCIÓN / INSTITUTION: - Texas Childrens Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), 1102 Bates St, Houston, TX, USA. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are 10-fold more likely to develop B-cell acute lymphoblastic leukemia (B-ALL), with a higher frequency of rearrangements resulting in overexpression of cytokine receptor-like factor 2 (CRLF2). Here, we investigated the impact of CRLF2 overexpression on B-cell progenitor proliferation, immunophenotype, and gene expression profile in the Dp(16)1Yey (Dp16) mouse model of DS compared to wild-type (WT) mice. CRLF2 overexpression enhanced immature B-lymphoid colony development and increased the proportion of less differentiated pre-pro-B cells, with a greater effect in Dp16 versus WT. In CRLF2-rearranged (CRLF2-R) B-ALL patient samples, cells with higher CRLF2 expression exhibited a less differentiated B-cell immunophenotype. CRLF2 overexpression resulted in a gene expression signature associated with E2F signaling in both Dp16 B-progenitors and in DS-ALL patient samples, and PI3K/mTOR and pan-CDK inhibitors which reduce E2F-mediated signaling demonstrated cytotoxicity in CRLF2-R B-ALL cell lines and patient samples. CRLF2 overexpression alone in Dp16 stem and progenitor cells did not result in leukemic transformation in recipient mice. Thus, CRLF2 overexpression results in reduced B cell differentiation and enhanced E2F signaling in Dp16 B-progenitor cells and DS-ALL patient samples. These findings suggest a functional basis for the high frequency of CRLF2-R in DS-ALL as well as a potential therapeutically targetable pathway.

TÍTULO / TITLE:   - Potential Role of Neutrophil-Platelet Interaction in Increased Susceptibility to Infection of Patients with Down Syndrome

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REVISTA / JOURNAL:    - Lab Med. 2022 Mar 14;lmac012. doi: 10.1093/labmed/lmac012. Online ahead of print

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AUTORES / AUTHORS: - Hoda M Abd El-Ghany, Iman Ehsan Abdel Meguid, Rabab El Hawary, Safa Meshaal, Iman Taha Lafy Shimila, Eman Roshdy Radwan

INSTITUCIÓN / INSTITUTION: - Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. 

RESUMEN / SUMMARY: - Objective: Recurrent infection in Down syndrome (DS) has been previously documented; the potential role of platelets and neutrophil-platelet interaction has not been addressed in previous studies. Patients and methods: Using flow cytometry, we evaluated CD40 and CD18 expression as activation markers for neutrophils and CD62p as an activation marker for platelets, before and after lipopolysaccharide (LPS) stimulation, in 34 patients with DS and 39 control patients. Results: Markers were evaluated as percentage of positivity, mean fluorescent intensity (MFI), and activation index (MFI after stimulation/MFI before stimulation). Patients showed a significantly lower CD40 MFI (P = .019) after LPS stimulation, a lower CD62p percentage before and after LPS stimulation (P = .013 and P = .029), and a higher CD62p MFI (P = .011) after LPS stimulation. Patients showed a lower activation index for CD40 and CD18 (P ≤ .001) but not for CD62p (P = .338). Dysfunctional efficiency in neutrophils and in the neutrophil-platelet interaction could not be correlated to infection. Conclusion: A consensus on a scoring system for infection is needed for an objective evaluation of correlation to infection.

TÍTULO / TITLE:   - The megakaryocytic transcription factor ARID3A suppresses leukemia pathogenesis

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REVISTA / JOURNAL:    - Blood. 2022 Feb 3;139(5):651-665.doi: 10.1182/blood.2021012231.

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AUTORES / AUTHORS: - Oriol Alejo-Valle, Karoline Weigert, Raj Bhayadia, Michelle Ng, Hasan Issa, Christoph Beyer, Stephan Emmrich, Konstantin Schuschel, Christian Ihling, Andrea Sinz, Martin Zimmermann, Claudia Wickenhauser, Marius Flasinski, Eniko Regenyi, Maurice Labuh

INSTITUCIÓN / INSTITUTION: - Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, Halle, Germany. 

RESUMEN / SUMMARY: - Given the plasticity of hematopoietic stem and progenitor cells, multiple routes of differentiation must be blocked in the the pathogenesis of acute myeloid leukemia, the molecular basis of which is incompletely understood. We report that posttranscriptional repression of the transcription factor ARID3A by miR-125b is a key event in the pathogenesis of acute megakaryoblastic leukemia (AMKL). AMKL is frequently associated with trisomy 21 and GATA1 mutations (GATA1s), and children with Down syndrome are at a high risk of developing the disease. The results of our study showed that chromosome 21-encoded miR-125b synergizes with Gata1s to drive leukemogenesis in this context. Leveraging forward and reverse genetics, we uncovered Arid3a as the main miR-125b target behind this synergy. We demonstrated that, during normal hematopoiesis, this transcription factor promotes megakaryocytic differentiation in concert with GATA1 and mediates TGFβ-induced apoptosis and cell cycle arrest in complex with SMAD2/3. Although Gata1s mutations perturb erythroid differentiation and induce hyperproliferation of megakaryocytic progenitors, intact ARID3A expression assures their megakaryocytic differentiation and growth restriction. Upon knockdown, these tumor suppressive functions are revoked, causing a blockade of dual megakaryocytic/erythroid differentiation and subsequently of AMKL. Inversely, restoring ARID3A expression relieves the arrest of megakaryocytic differentiation in AMKL patient-derived xenografts. This work illustrates how mutations in lineage-determining transcription factors and perturbation of posttranscriptional gene regulation can interact to block multiple routes of hematopoietic differentiation and cause leukemia. In AMKL, surmounting this differentiation blockade through restoration of the tumor suppressor ARID3A represents a promising strategy for treating this lethal pediatric disease.

TÍTULO / TITLE:   - Recalcitrant transient abnormal myelopoiesis in neonatal Down syndrome

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2022 Mar 16;e29662. doi: 10.1002/pbc.29662. Online ahead of print

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AUTORES / AUTHORS: - Sophie Timmis, Angus Hodder, Niteesh Bharadwaj, Sarah Inglott, Jane Chalker, Danny Cheng, Sneha Tandon, Jack Bartram

INSTITUCIÓN / INSTITUTION: - Department of Haematology, Great Ormond Street Hospital for Children, London, UK. 

RESUMEN / SUMMARY: -

Infectious diseases - Infecciones

TÍTULO / TITLE:   - Prevalence of Infectious Diseases Among 6078 Individuals With Down Syndrome in the United States

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REVISTA / JOURNAL:    - J Patient Cent Res Rev. 2022 Jan 17;9(1):64-69. doi: 10.17294/2330-0698.1876. eCollection Winter 20

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AUTORES / AUTHORS: - Veronica Fitzpatrick, Anne Rivelli, Sagar Chaudhari, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

INSTITUCIÓN / INSTITUTION: - Advocate Aurora Health, Downers Grove, IL. 

RESUMEN / SUMMARY: - A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions among individuals with DS versus those without DS. In this follow-up retrospective analysis, we explored these differences in greater detail by calculating prevalence of 52 infectious diseases, across 28 years of data among 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large Midwestern health system. We found that the DS cohort had higher prevalence of pneumonias (including aspiration, viral, bacterial, pneumococcal, and unspecified/atypical); otitis externa; and the skin infections impetigo, abscess, and cellulitis. To the contrary, the DS cohort had lower prevalence of many respiratory infections other than pneumonia (including influenza, strep pharyngitis, upper respiratory infection, sinusitis, tonsillitis, laryngitis, bronchitis, scarlet fever, and otitis media); sexually transmitted infections (including bacterial vaginosis, chlamydia, genital herpes, HIV/AIDS, human papillomavirus, pelvic inflammatory disease, and trichomoniasis); mononucleosis; shingles; unspecified hepatitis; intestinal infections; and enteritis. These findings highlight that individuals with DS could be more or less prone to different infectious diseases than their non-DS matched counterparts. Additional research to understand why these differences exist and how they might affect the clinical approach to patients with DS is warranted.

TÍTULO / TITLE:   - The COVID-19 pandemic: The evaluation of the emergency remote parent training program based on at-home support for children with down syndrome

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REVISTA / JOURNAL:    - Child Youth Serv Rev. 2022 Feb;133:106325. doi: 10.1016/j.childyouth.2021.106325. Epub 2021 Dec

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AUTORES / AUTHORS: - S elik, G Tomris, D M Tuna

INSTITUCIÓN / INSTITUTION: - Early Intervention/Special Education, Anadolu University, Faculty of Education, Department of Special Education, Eskisehir, Turkey 

RESUMEN / SUMMARY: - During the COVID-19 pandemic, the development of emergency remote training programs for young children with Down syndrome, learning difficulties, and severe health problems and their parents became a requirement. The present study aimed to evaluate the impact of the "applied emergency remote training program", prepared to address the needs of parents with children with Down syndrome and to offer them at-home support. It is an evaluative case study conducted with 11 parents of 11-35 months old children with Down syndrome. The findings demonstrated that the program could be conducted in a home environment, it improved the interactional behavior of both parents and children, reduced the number of difficult routines, and was considered as an educational, instructive, and band-aid solution. Issues such as the development of systematic psycho-social support systems that increase full participation and motivation of parents in distance education programs are important during extreme times such as the pandemic. Difficulties in online data collection, the employment of coaching and counseling systems in information maintenance, individualization of the program, the improvement of the interactivity in the program, and the development of applied training programs on different topics still wait for a solution.

TÍTULO / TITLE:   - AKT Hyperphosphorylation and T Cell Exhaustion in Down Syndrome

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REVISTA / JOURNAL:    - Front Immunol. 2022 Feb 10;13:724436. doi: 10.3389/fimmu.2022.724436. eCollection 2022. Free PMC ar

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AUTORES / AUTHORS: - Daphne Peeters, Ingrid Pico-Knijnenburg, Douwe Wieringa, Mandana Rad, Roos Cuperus, Madelon Ruige, Frank Froeling, Gerda W Zijp, Mirjam van der Burg, Gertjan J A Driessen

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Down syndrome (DS) is associated with increased susceptibility to infections, auto-immunity, immunodeficiency and haematological malignancies. The exact underlying immunological pathophysiology is still unclear. The immunophenotype and clinical characteristics of DS resemble those of Activated PI3K Delta Syndrome (APDS), in which the PI3K/AKT/mTOR pathway is overactivated. We hypothesized that T cell exhaustion and the hyperactivation of the AKT signalling pathway is also present in immune cells of children with DS. In this observational non-interventional cohort study we collected blood samples of children with DS (n=22) and healthy age-matched controls (n=21) for flowcytometric immunophenotyping, phospho-flow AKT analysis and exhaustion analysis of T cells. The median age was 5 years (range 1-12y). Total T and NK cells were similar for both groups, but absolute values and transitional B cells, naive memory B cells and naive CD4+ and CD8+ T cells were lower in DS. pAKT and AKT were increased for CD3+ and CD4+ T cells and CD20+ B cells in children with DS. Total AKT was also increased in CD8+ T cells. Children with DS showed increased expression of inhibitory markers Programmed cell dealth-1 (PD-1), CD244 and CD160 on CD8+ T cells and increased PD-1 and CD244+ expression on CD4+ T cells, suggesting T cell exhaustion. Children with DS show increased pAKT and AKT and increased T cell exhaustion, which might contribute to their increased susceptibility to infections, auto immunity and haematological malignancies.

TÍTULO / TITLE:   - Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges

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REVISTA / JOURNAL:    - Pediatric Health Med Ther. 2022 Mar 14;13:53-62. doi: 10.2147/PHMT.S282646. eCollection 2022. Free

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AUTORES / AUTHORS: - Jordan T Jones, Jacqueline Kitchen, Nasreen Talib

INSTITUCIÓN / INSTITUTION: - Division of Rheumatology, Childrens Mercy Kansas City, Kansas City, MO, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common birth defects in the United States, the most common genomic disorder of intellectual disability, and results from trisomy 21. This chromosome disorder causes an extensive, heterogenous phenotype that results in a broad presentation of symptoms that includes atlantoaxial instability, congenital heart defects, muscle hypotonia, hypothyroidism, hematologic disorders, recurrent infections, and autoimmune diseases. The autoimmune diseases are caused by immune system dysregulation that results in increased pro-inflammatory cytokines, along with other innate and adaptive immune system dysregulation. This is the likely cause of the increased risk of inflammatory arthritis or Down syndrome-associated arthritis (DA) seen in individuals with DS. Most individuals with DA present with polyarticular (five or more joints with arthritis at presentation of disease), rheumatoid factor and anti-nuclear antibody negative disease that is aggressive with bone and joint damage at presentation. There is notable delay in diagnosis of DA as there are no formal guidelines on screening or monitoring for inflammatory arthritis in individuals with DS. Once diagnosed, and despite aggressive therapy with disease modifying antirheumatic drugs, disease burden is high for those with DA. Therapy can also be challenging for those with DA as many require second and third-line disease modifying therapies. Many also struggle with medication toxicity and ineffectiveness that further causes challenges with management and outcomes. The purpose of this current review is to provide an up-to-date summary of the literature related to DA in children and adolescents with focus on presentation, diagnosis, and management considerations, along with current barriers that inhibit optimal care.

TÍTULO / TITLE:   - Concomitant pulmonary and neurological embolisation in a Down patient after SARS-CoV-2 vaccine: what is missing?

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REVISTA / JOURNAL:    - Cardiol Young. 2022 Jan 24;1-3. doi: 10.1017/S1047951122000191. Online ahead of print.

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AUTORES / AUTHORS: - Arianna Di Molfetta, Sonia Volpe, Marco Cesario, Pasquale Mollo, Duino Boncompagni, Giancarlo Di Ruzza, Maurizio Menichelli

INSTITUCIÓN / INSTITUTION: - Department of Cardiology, Fabrizio Spaziani Hospital, Frosinone, Italy. 

RESUMEN / SUMMARY: - A 40-year-old Down patient without previous cardiological history was admitted to our institution for dyspnoea after COVID-19 vaccine. CT scan revealed a pulmonary thromboembolism. One week later, he developed neurological impairment and CT scan evidenced a left parietal ischaemic lesion. Concomitantly, he underwent echocardiography showing an atrioventricular septal defect typically associated to Down syndrome and never diagnosed earlier. The diagnosis of paradoxical embolisation was then supposed. Echocardiography also revealed a severe right heart section dilatation, with bidirectional shunt on the septal defects and systemic right heart pressure. Down patients affected by CHD are more prone to develop pulmonary vasculopathy than non-syndromic patients. In this case, the pulmonary vasculopathy was further exacerbated by the pulmonary embolism and by the late diagnosis of CHD. Finally, an appropriate timely diagnosis of atrioventricular septal defect could potentially avoid the neurological complication in this patient.

TÍTULO / TITLE:   - Down syndrome: the aggravation of COVID-19 may be partially justified by the expression of TMPRSS2

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REVISTA / JOURNAL:    - Neurol Sci. 2022 Feb;43(2):789-790. doi: 10.1007/s10072-021-05715-z. Epub 2021 Nov 10. Free PMC art

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AUTORES / AUTHORS: - Victor Gustavo Oliveira Evangelho, Murilo Lamim Bello, Helena Carla Castro, Marcia Rodrigues Amorim

INSTITUCIÓN / INSTITUTION: - Pós-Graduação Em Ciencias E Biotecnologia, Universidade Federal Fluminense, Niteroi, Rio de Janeiro, Brazil. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Impact of the COVID 19 pandemic on daily life, mood, and behavior of adults with Down syndrome

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REVISTA / JOURNAL:    - Disabil Health J. 2022 Feb 17;101278. doi: 10.1016/j.dhjo.2022.101278. Online ahead of print. Free

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AUTORES / AUTHORS: - Sigan L Hartley, Victoria Fleming, Brianna Piro-Gambetti, Annie Cohen, Beau M Ances, Michael A Yassa, Adam M Brickman, Benjamin L Handen, Elizabeth Head, Mark Mapstone, Bradley T Christian, Ira T Lott, Eric Doran, Shahid Zaman, Sharon Krinsky-McHale,

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53706, USA; School of Human Ecology, University of Wisconsin-Madison, 1300 Linden Dr, Madison, WI 53706, USA 

RESUMEN / SUMMARY: - Background: The Down syndrome population has been disproportionately affected by Coronavirus 2019 (COVID-19) in terms of experiencing severe illness and death. Societal efforts to curb the spread of COVID-19 may also have taken a heavy toll on the daily lives of individuals with Down syndrome. Objective/hypothesis: The goal of the study was to understand how the COVID-19 pandemic has altered daily life (including residence, employment, and participation in adult disability day programs) and influenced the mood and behavior of adults with Down syndrome. Methods: Between September 2020 and February 2021, caregivers of 171 adults with Down syndrome (aged 22-66 years) located across the United States and in the United Kingdom enrolled in the Alzheimers Biomarker Research Consortium on Down Syndrome (ABC-DS) completed a survey. Results: The residence of 17% of individuals was altered, and 89% of those who had been employed stopped working during the pandemic. One-third (33%) of individuals were reported to be more irritable or easily angered, 52% were reported to be more anxious, and 41% were reported to be more sad/depressed/unhappy relative to prepandemic. The majority of changes in mood and behavior were of modest severity. Conclusions: The COVID-19 pandemic has had widespread effects on the daily life and mood and behavior of adults with Down syndrome. In the short term, caregivers and providers should be prepared to help adults with Down syndrome with changes in daily routines, residence, employment, or adult disability day programs as society shifts away from COVID-19 safety protocols.

TÍTULO / TITLE:   - Severe Outcomes, Readmission, and Length of Stay Among COVID-19 Patients with Intellectual and Developmental Disabilities

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REVISTA / JOURNAL:    - Int J Infect Dis. 2022 Mar;116:328-330. doi: 10.1016/j.ijid.2022.01.038. Epub 2022 Jan 22. Free

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AUTORES / AUTHORS: - Alain K Koyama, Emilia H Koumans, Kanta Sircar, Amy Lavery, Joy Hsu, A Blythe Ryerson, David A Siegel

INSTITUCIÓN / INSTITUTION: - Centers for Disease Control and Prevention, 4770 Buford Hwy, NE, Atlanta, 30341, United States.  

RESUMEN / SUMMARY: - Objectives: The aim of this study was to evaluate the association between intellectual and developmental disabilities (IDDs) and severe COVID-19 outcomes, 30-day readmission, and/or increased length of stay (LOS) using a large electronic administrative database. Methods: Patients hospitalized with COVID-19 were identified between March 2020 and June 2021 from more than 900 hospitals in the United States. IDDs included intellectual disability, cerebral palsy, Down syndrome, autism spectrum disorder (ASD), and other intellectual disabilities. Outcomes included intensive care unit (ICU) admission, invasive mechanical ventilation (IMV), 30-day readmission, mortality, and LOS. Results: Among 643,765 patients with COVID-19, multivariate models showed that patients with any IDD were at a significantly greater risk of at least 1 severe outcome, 30-day readmission, or longer LOS than patients without any IDD. Compared with those without any IDD, patients with Down syndrome had the greatest odds of ICU admission (odds ratio [OR] and 95% confidence interval [CI]: 1.96 [1.73-2.21]), IMV (OR: 2.37 [2.07-2.70]), and mortality (OR: 2.33 [2.00-2.73]). Patients with ASD and those with Down syndrome both had over a 40% longer mean LOS. Patients with intellectual disabilities had a 23% (12-35%) increased odds of 30-day readmission. Conclusions: Results suggest that patients hospitalized with COVID-19 with IDD have a significantly increased risk of severe outcomes, 30-day readmission, and longer LOS.

TÍTULO / TITLE:   - Children with severe disabilities: adaptation, virtual education, and prospects. Experiences of three Peruvian mothers, COVID-19 context

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REVISTA / JOURNAL:    - J Med Life. 2022 Jan;15(1):43-51. doi: 10.25122/jml-2021-0330. Free PMC article

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AUTORES / AUTHORS: - Pilar Maria Gamarra Choque, Edith Gissela Rivera Arellano, Enaidy Reynosa Navarro, Juan Mendez Vergaray, Yolanda Josefina Huayta-Franco, Melissa Fatima Muante Toledo

INSTITUCIÓN / INSTITUTION: - Postgraduate School, Cesar Vallejo University, Lima, Perú. 

RESUMEN / SUMMARY: - This study aimed to reveal and investigate mothers experiences of students with severe disabilities regarding learning in distance education in Lima-Peru. This is a phenomenological study focused on understanding the world of mothers regarding the education of their children with severe disabilities. Their discourse focused on four categories: being the mother of a child with severe disability, pandemic category, virtual education, and family prospects. The participants were three mothers of children with Down Syndrome, Autism Spectrum Disorder, and Cerebral Palsy. An in-depth interview structured in 26 questions was used, applied face to face. With distance education, the mothers consider that their childrens abilities and skills have assumed a leading role, developed creativity, and employed various strategies to comply with school activities. In addition, it also strengthened their family ties despite the pandemic.

TÍTULO / TITLE:   - ORF8 and Health Complications of COVID-19 in Down Syndrome Patients

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REVISTA / JOURNAL:    - Front Genet. 2022 Feb 9;13:830426. doi: 10.3389/fgene.2022.830426. eCollection 2022. Free PMC articl

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AUTORES / AUTHORS: - Antonio Bensussen, Antonio Valcarcel, Elena R Alvarez-Buylla, Jose Diaz

INSTITUCIÓN / INSTITUTION: - Laboratorio de Dinamica de Redes Geneticas, Centro de Investigacion en Dinamica Celular, Universidad Autonoma del Estado de Morelos, Cuernavaca, Mexico 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Toxoplasma gondii Infection Among Institutionalized Children with Down syndrome in Sanaa city, Yemen: Implications of Low IgG Seroprevalence

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REVISTA / JOURNAL:    - Acta Parasitol. 2022 Mar;67(1):530-534 doi: 10.1007/s11686-021-00473-6. Epub 2021 Oct 8. Free PMC

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AUTORES / AUTHORS: - Asmaa A H Al-Awadi, Rashad Abdul-Ghani, Abdulsalam M Al-Mekhlafi

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Purpose: To assess the IgG seroprevalence of Toxoplasma gondii as an indicator of past exposure and immunity against infection among children with Down syndrome (DS) in Sanaa city, Yemen. This preliminary study is justified by the primary immunodeficiency of children with DS and the opportunistic nature of the parasite, considering the vague situation of anti-Toxoplasma IgG seroprevalence among children with DS because of neglecting its study on local and global scales. Methods: This descriptive, facility-based, cross-sectional study was conducted among 107 children with DS hosted in six randomly selected rehabilitation centers for children with special needs in Sanaa city. Demographics of children and their mothers knowledge of toxoplasmosis were collected using a pre-designed, structured questionnaire. Anti-Toxoplasma IgG antibodies were measured in the sera of children using electrochemiluminescence assay. Results: Of 107 children with DS, 3 (2.8%) were seropositive for anti-Toxoplasma IgG. Approximately two-thirds (71/106) of the mothers of children with DS were aware of toxoplasmosis. Of whom, 83.1% (59/71) were aware of its congenital complications. Conclusion: The majority of children with DS in Sanaa city are seronegative for anti-Toxoplasma IgG, where the seropositivity rate is lower than 3.0%. Therefore, children with DS are non-immune and susceptible to the acquisition of primary infections during their life. Further analytical studies are recommended to determine whether the defective immune response of children with DS is associated with false seronegativity, to assess the role of their mothers knowledge in reducing their exposure to infection if they were confirmed truly seronegative and to identify the predictors of infection among them.

TÍTULO / TITLE:   - Anxiety and Worries of Individuals with Down Syndrome During the COVID-19 Pandemic: A Comparative Study in the UK

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2022 Feb 1;1-16. doi: 10.1007/s10803-022-05450-0. Online ahead of print. Fr

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AUTORES / AUTHORS: - V Sideropoulos, H Kye, D Dukes, A C Samson, O Palikara, J Van Herwegen

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Human Development, UCL, Institute of Education, University College London, London, UK.  

RESUMEN / SUMMARY: - The present study explored the effects of the pandemic on individuals with Down Syndrome (DS; n = 67) compared to other groups with Special Education Needs and Disabilities (SEND; n = 48) and their Typically Developing Siblings (TDS; n = 56). In total, 115 caregivers reported on their own anxiety and worries and of their children. Anxiety levels for individuals with DS appeared to be lower compared to other SEND populations and to TDS. In terms of worries, individuals with DS worried more about social-related worries but worried less about family-related aspects compared to the other groups. In sum, individuals with DS might show less anxiety but still worried more about specific aspects related to the impact of COVID-19 pandemic on their lives.

TÍTULO / TITLE:   - Differential microRNA expression profile in blood of children with Down syndrome suggests a role in immunological dysfunction

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REVISTA / JOURNAL:    - Hum Cell. 2022 Mar;35(2):639-648. doi: 10.1007/s13577-022-00672-x. Epub 2022 Jan 20. Free PMC ar

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AUTORES / AUTHORS: - Joice Matos Biselli, Bruna Lancia Zampieri, Patricia Matos Biselli-Chicote, Jorge Estefano Santana de Souza, Matheus Carvalho Burger, Wilson Araujo da Silva Jr, Eny Maria Goloni-Bertollo, Erika Cristina Pavarino

INSTITUCIÓN / INSTITUTION: - Department of Molecular Biology, Faculdade de Medicina de Sao Jose Do Rio Preto, Genetics and Molecular Biology Research Unit (UPGEM), Sao Jose Do Rio Preto Medical School (FAMERP), Avenida Brigadeiro Faria Lima, n 5416 - UPGEM/Bloco U-6, C 

RESUMEN / SUMMARY: - Down syndrome (DS), caused by trisomy of chromosome 21 (HSA21), results in a broad range of phenotypes. However, the determinants contributing to the complex and variable phenotypic expression of DS are still not fully known. Changes in microRNAs (miRNAs), short non-coding RNA molecules that regulate gene expression post-transcriptionally, have been associated with some DS phenotypes. Here, we investigated the genome-wide mature miRNA expression profile in peripheral blood mononuclear cells (PBMCs) of children with DS and controls and identified biological processes and pathways relevant to the DS pathogenesis. The expression of 754 mature miRNAs was profiled in PBMCs from six children with DS and six controls by RT-qPCR using TaqMan® Array Human MicroRNA Cards. Functions and signaling pathways analyses were performed using DIANA-miRPath v.3 and DIANA-microT-CDS software. Children with DS presented six differentially expressed miRNAs (DEmiRs): four overexpressed (miR-378a-3p, miR-130b-5p, miR-942-5p, and miR-424-3p) and two downregulated (miR-452-5p and miR-668-3p). HSA21-derived miRNAs investigated were not found to be differentially expressed between the groups. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses showed potential target genes involved in biological processes and pathways pertinent to immune response, e.g., toll-like receptors (TLRs) signaling, Hippo, and transforming growth factor β (TGF-β) signaling pathways. These results suggest that altered miRNA expression could be contributing to the well-known immunological dysfunction observed in individuals with DS.

TÍTULO / TITLE:   - Transcriptome-wide analysis of cellular immune response stimulated by nuclear input of different down syndrome cell adhesion molecule intracellular domains

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REVISTA / JOURNAL:    - Dev Comp Immunol. 2022 May;130:104350. doi: 10.1016/j.dci.2022.104350. Epub 2022 Jan 18.

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AUTORES / AUTHORS: - Hao Li, Yuehong Zhao, Xiaoli Zhang, Hui Zhao, Weiwei Li, Qun Wang

INSTITUCIÓN / INSTITUTION: - Laboratory of Invertebrate Immunological Defense and Reproductive Biology, School of Life Sciences, East China Normal University, Shanghai, China. 

RESUMEN / SUMMARY: - In arthropods, Dscam (Down syndrome cell adhesion molecule) produces multiple pathogen specific receptors via immune responsive alternative splicing, generating molecular complexity analogous to vertebrate antibodies. Fewer isoforms are produced by the exons encoding Dscams intracellular domain (ICD); therefore, the present study aimed to determine the transcriptional response of Eriocheir sinensis to Dscam ICDs. In the group overexpressing all cytoplasmic tail exons (ICD-FL), 1401 differentially expressed genes (DEGs) were identified; overexpressed of ICD constructs lacking exon-35 (ICD-△35) identified 413 DEGs; and overexpression of ICD constructs lacking exon-35 and exon-36 (ICD-△35 + 36) identified 22 DEGs. The DEGs were enriched in immunity and metabolism-related pathways. The expression of selected genes was confirmed using quantitative real-time reverse transcription PCR. The transcriptomes of Drosophila S2 cells overexpressing different ICDs were then determined. We identified key immune, metabolic, and cell proliferation-regulated genes and gene networks, providing insights into the membrane-to-nuclear signaling pathway of Dscam.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Vitamin A deficiency and association between serum retinol and IGF-1 concentrations in Brazilian children with Down syndrome

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REVISTA / JOURNAL:    - J Pediatr (Rio J). Jan-Feb 2022;98(1):76-83. doi: 10.1016/j.jped.2021.04.003. Epub 2021 May 15. Fre

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AUTORES / AUTHORS: - Ivan Savioli Ferraz, Dbora Monica Costa Vieira, Luiz Antonio Del Ciampo Jr, Fabio da Veiga Ued, Ane Cristina Fayao Almeida, Alceu Afonso Jordao Jr, Davi Casale Aragon, Edson Zangiacomi Martinez, Carlos Eduardo Martinelli Jr, Carlos Alberto Nogueira-

INSTITUCIÓN / INSTITUTION: - Universidade de Sao Paulo, Faculdade de Medicina de Ribeirao Preto, Departamento de Pediatria, Ribeirao Preto, SP, Brazil. 

RESUMEN / SUMMARY: - Objective: To determine the prevalence of vitamin A deficiency (VAD) and serum concentrations of retinol, correlating them with IGF-1 concentrations in preschoolers with DS. Methods: Cross-sectional study was conducted on 47 children with DS aged 24 to 72 months, in Ribeirão Preto, Brazil. VAD was determined by the relative dose-response (RDR) test. Retinol serum concentration ≤ 0.70 µmol/L and IGF-1 serum concentration below the 3rd percentile for sex and age were considered to represent deficiency. C-reactive protein (CRP) was determined at the beginning of the study. Weight, height, and information about fever and/or diarrhea were obtained at the beginning of the study. Results: VAD prevalence was 25.5% (12/47), and 74.5% (35/47) of the children had deficient retinol before the intervention. CRP was not associated with VAD. Mean IGF-1 were 103.5 ng/mL (SD = 913) for the group with VAD and 116.3 ng/mL (SD = 54.9) for the group with no VAD (p-value = 0.85); 8.5% (4/47) of the children showed deficient IGF-1, but without VAD. No association was observed between VAD and IGF-1 deficiency. A moderate positive correlation was observed between pre-intervention retinol and IGF-1 (ρ = 0.37; p-value = 0.01). Conclusion: a high prevalence of VAD and deficient retinol was observed and there was a positive correlation between serum retinol and IGF-1.

TÍTULO / TITLE:   - CAPE and its synthetic derivative VP961 restore BACH1/NRF2 axis in Down Syndrome

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REVISTA / JOURNAL:    - Free Radic Biol Med. 2022 Mar 11;183:1-13. doi: 10.1016/j.freeradbiomed.2022.03.006. Online ahead o

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AUTORES / AUTHORS: - Sara Pagnotta, Antonella Tramutola, Eugenio Barone, Fabio Di Domenico, Valeria Pittala, Loredana Salerno, Valentina Folgiero, Matteo Caforio, Franco Locatelli, Stefania Petrini, D Allan Butterfield, Marzia Perluigi

INSTITUCIÓN / INSTITUTION: - Department of Biochemical Sciences "A. Rossi-Fanelli", Sapienza University of Rome, Laboratory affiliiated to Istituto Pasteur Italia-Fondazione Cenci Bolognetti, Rome, Italy. 

RESUMEN / SUMMARY: - The cells possess several mechanisms to counteract the over-production of reactive oxygen species (ROS) and reactive nitrogen species (RNS), including enzymes such as superoxide dismutase, catalase and glutathione peroxidase. Moreover, an important sensor involved in the anti-oxidant response is KEAP1-NRF2-ARE signaling complex. Under oxidative stress (OS), the transcription factor NRF2 can dissociate from the KEAP1-complex in the cytosol and translocate into the nucleus to promote the transcriptional activation of anti-oxidant genes, such as heme oxygenase 1 and NADPH quinone oxidoreductase. Within this context, the activation of NRF2 response is further regulated by BACH1, a transcription repressor, that compete with the KEAP1-NRF2-ARE complex. In this work, we focused on the role of BACH1/NRF2 ratio in the regulation of the anti-oxidant response, proposing their antithetical relation as a valuable target for a therapeutic strategy to test drugs able to exert neuroprotective effects, notably in aging and neurodegenerative diseases. Among these, Down syndrome (DS) is a complex genetic disorder characterized by BACH1 gene triplication that likely results in the impairment of NRF2 causing increased OS. Our results revealed that BACH1 overexpression alters the BACH1/NRF2 ratio in the nucleus and disturbs the induction of antioxidant response genes ultimately resulting in the accumulation of oxidative damage both in Ts2Cje mice (a mouse model of DS) and human DS lymphoblastoid cell lines (LCLs). Based on this evidence, we tested Caffeic Acid Phenethyl Ester (CAPE) and the synthetic analogue VP961, which have been proven to modulate NRF2 activity. We showed that CAPE and VP961 administration to DS LCLs was able to promote NRF2 nuclear translocation, which resulted in the amelioration of antioxidant response. Overall, our study supports the hypothesis that BACH1 triplication in DS subjects is implicated in the alteration of redox homeostasis and therapeutic strategies to

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Abnormal mitochondria in Down syndrome iPSC-derived GABAergic interneurons and organoids

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REVISTA / JOURNAL:    - Biochim Biophys Acta Mol Basis Dis. 2022 Mar 15;1868(6):166388. doi: 10.1016/j.bbadis.2022.166388.

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AUTORES / AUTHORS: - Lei Xu, Hai-Qin Huo, Kai-Qin Lu, Xiao-Yan Tang, Yuan Hong, Xiao Han, Zi-Xing Fu, Kai-Heng Fang, Min Xu, Xing Guo, Yan Liu

INSTITUCIÓN / INSTITUTION: - School of Pharmacy, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 211166, China 

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by trisomy 21, and it is characterized by developmental brain disorders and neurological dysfunction. Clinical studies and basic research have revealed that defects in mitochondrial function contribute to the pathogenesis of DS. However, the underlying mechanisms of mitochondrial dysfunction in DS remain unclear. In this study, we first generated GABAergic interneurons and medial ganglionic eminence (MGE) organoids from DS patients and control induced pluripotent stem cells. The mitochondria were abnormally clustered in the perinuclear region of GABA neurons and cell in MGE organoids from DS patients, which exhibited impaired mitochondrial function as assessed by seahorse oxidative phosphorylation assay. Inhibition of the DSCAM-PAK1 pathway by gene editing or treatment with a small molecule corrected mitochondrial perinuclear aggregation in cells from DS patients. Therefore, our study provides insight into the potential mechanism of mitochondrial dysfunction in DS.

TÍTULO / TITLE:   - Early Appearance of Dendritic Alterations in Neocortical Pyramidal Neurons of the Ts65Dn Model of Down Syndrome

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REVISTA / JOURNAL:    - Dev Neurosci. 2022;44(1):23-38. doi: 10.1159/000520925. Epub 2021 Dec 1.

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AUTORES / AUTHORS: - Beatrice Uguagliati, Fiorenza Stagni, Marco Emili, Andrea Giacomini, Carla Russo, Sandra Guidi, Renata Bartesaghi

INSTITUCIÓN / INSTITUTION: - Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. 

RESUMEN / SUMMARY: - Down syndrome (DS), which is due to triplication of chromosome 21, is constantly associated with intellectual disability (ID). ID can be ascribed to both neurogenesis impairment and dendritic pathology. These defects are replicated in the Ts65Dn mouse, a widely used model of DS. While neurogenesis impairment in DS is a fetal event, dendritic pathology occurs after the first postnatal months. Neurogenesis alterations across the life span have been extensively studied in the Ts65Dn mouse. In contrast, there is scarce information regarding dendritic alterations at early life stages in this and other models, although there is evidence for dendritic alterations in adult mouse models. Thus, the goal of the current study was to establish whether dendritic alterations are already present in the neonatal period in Ts65Dn mice. In Golgi-stained brains, we quantified the dendritic arbors of layer II/III pyramidal neurons in the frontal cortex of Ts65Dn mice aged 2 (P2) and 8 (P8) days and their euploid littermates. In P2 Ts65Dn mice, we found a moderate hypotrophy of the apical and collateral dendrites but a patent hypotrophy of the basal dendrites. In P8 Ts65Dn mice, the distalmost apical branches were missing or reduced in number, but there were no alterations in the collateral and basal dendrites. No genotype effects were detected on either somatic or dendritic spine density. This study shows dendritic branching defects that mainly involve the basal domain in P2 Ts65Dn mice and the apical but not the other domains in P8 Ts65Dn mice. This suggests that dendritic defects may be related to dendritic compartment and age. The lack of a severe dendritic pathology in Ts65Dn pups is reminiscent of the delayed appearance of patent dendritic alterations in newborns with DS. This similarly highlights the usefulness of the Ts65Dn model for the study of the mechanisms underlying dendritic alterations in DS and the design of possible therapeutic interventions.

TÍTULO / TITLE:   - Multimodal in vivo Imaging of the Integrated Postnatal Development of Brain and Skull and Its Co-modulation With Neurodevelopment in a Down Syndrome Mouse Model

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REVISTA / JOURNAL:    - Front Med (Lausanne). 2022 Feb 11;9:815739. doi: 10.3389/fmed.2022.815739. eCollection 2022. Free P

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AUTORES / AUTHORS: - Sergi Llambrich, Ruben Gonzalez, Julia Albaiges, Jens Wouters, Fopke Marain, Uwe Himmelreich, James Sharpe, Mara Dierssen, Willy Gsell, Neus Martinez-Abadias, Greetje Vande Velde

INSTITUCIÓN / INSTITUTION: - Biomedical MRI, Department of Imaging and Pathology, KU Leuven, Flanders, Belgium. 

RESUMEN / SUMMARY: - The brain and skeletal systems are intimately integrated during development through common molecular pathways. This is evidenced by genetic disorders where brain and skull dysmorphologies are associated. However, the mechanisms underlying neural and skeletal interactions are poorly understood. Using the Ts65Dn mouse model of Down syndrome (DS) as a case example, we performed the first longitudinal assessment of brain, skull and neurobehavioral development to determine alterations in the coordinated morphogenesis of brain and skull. We optimized a multimodal protocol combining in vivo micro-computed tomography (μCT) and magnetic resonance imaging (μMRI) with morphometric analyses and neurodevelopmental tests to longitudinally monitor the different systems development trajectories during the first postnatal weeks. We also explored the impact of a perinatal treatment with green tea extracts enriched in epigallocatechin-3-gallate (GTE-EGCG), which can modulate cognition, brain and craniofacial development in DS. Our analyses quantified alterations associated with DS, with skull dysmorphologies appearing before brain anomalies, reduced integration and delayed acquisition of neurodevelopmental traits. Perinatal GTE-EGCG induced disparate effects and disrupted the magnitude of integration and covariation patterns between brain and skull. Our results exemplify how a longitudinal research approach evaluating the development of multiple systems can reveal the effect of morphological integration modulating the response of pathological phenotypes to treatment, furthering our understanding of complex genetic disorders.

TÍTULO / TITLE:   - Evidence of Energy Metabolism Alterations in Cultured Neonatal Astrocytes Derived from the Ts65Dn Mouse Model of Down Syndrome

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REVISTA / JOURNAL:    - Brain Sci. 2022 Jan 6;12(1):83. doi: 10.3390/brainsci12010083. Free PMC article

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AUTORES / AUTHORS: - Bruna L Zampieri, Alberto C S Costa

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Neurology, Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106-6090, USA. 

RESUMEN / SUMMARY: - For many decades, neurons have been the central focus of studies on the mechanisms underlying the neurodevelopmental and neurodegenerative aspects of Down syndrome (DS). Astrocytes, which were once thought to have only a passive role, are now recognized as active participants of a variety of essential physiological processes in the brain. Alterations in their physiological function have, thus, been increasingly acknowledged as likely initiators of or contributors to the pathogenesis of many nervous system disorders and diseases. In this study, we carried out a series of real-time measurements of oxygen consumption rate (OCR) and extracellular acidification rate (ECAR) in hippocampal astrocytes derived from neonatal Ts65Dn and euploid control mice using a Seahorse XFp Flux Analyzer. Our results revealed a significant basal OCR increase in neonatal Ts65Dn astrocytes compared with those from control mice, indicating increased oxidative phosphorylation. ECAR did not differ between the groups. Given the importance of astrocytes in brain metabolic function and the linkage between astrocytic and neuronal energy metabolism, these data provide evidence against a pure "neurocentric" vision of DS pathophysiology and support further investigations on the potential contribution of disturbances in astrocytic energy metabolism to cognitive deficits and neurodegeneration associated with DS.

TÍTULO / TITLE:   - Differential expression of the neuronal CB1 cannabinoid receptor in the hippocampus of male Ts65Dn Down syndrome mouse model

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REVISTA / JOURNAL:    - Mol Cell Neurosci. 2022 Mar;119:103705. doi: 10.1016/j.mcn.2022.103705. Epub 2022 Feb 11. Free arti

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AUTORES / AUTHORS: - Nadia Di Franco, Guillaume Drutel, Valerie Roullot-Lacarrire, Francisca Julio-Kalajzic, Valerie Lalanne, Agns Grel, Thierry Leste-Lasserre, Isabelle Matias, Astrid Cannich, Delphine Gonzales, Vincent Simon, Daniela Cota, Giovanni Marsicano, Pier Vi

INSTITUCIÓN / INSTITUTION: - Univ. Bordeaux, INSERM, Neurocentre Magendie, U1215, F-33000 Bordeaux, France. 

RESUMEN / SUMMARY: - : Down syndrome (DS) or Trisomy 21 is the most common genetic cause of mental retardation with severe learning and memory deficits. DS is due to the complete or partial triplication of human chromosome 21 (HSA21) triggering gene overexpression and protein synthesis alterations responsible for a plethora of mental and physical phenotypes. Among the diverse brain target systems that affect hippocampal-dependent learning and memory deficit impairments in DS, the upregulation of the endocannabinoid system (ECS), and notably the overexpression of the cannabinoid type-1 receptor (CB1), seems to play a major role. Combining various protein and gene expression targeted approaches using western blot, qRT-PCR and FISH techniques, we investigated the expression pattern of ECS components in the hippocampus (HPC) of male Ts65Dn mice. Among all the molecules that constitute the ECS, we found that the expression of the CB1 is altered in the HPC of Ts65Dn mice. CB1 distribution is differentially segregated between the dorsal and ventral part of the HPC and within the different cell populations that compose the HPC. CB1 expression is upregulated in GABAergic neurons of Ts65Dn mice whereas it is downregulated in glutamatergic neurons. These results highlight a complex regulation of the CB1 encoding gene (Cnr1) in Ts65Dn mice that could open new therapeutic solutions for this syndrome.

TÍTULO / TITLE:   - The innate immune system stimulating cytokine GM-CSF improves learning/memory and interneuron and astrocyte brain pathology in Dp16 down syndrome mice and improves learning/memory in wild-type mice

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REVISTA / JOURNAL:    - Neurobiol Dis. 2022 Mar 17;105694. doi: 10.1016/j.nbd.2022.105694. Online ahead of print

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AUTORES / AUTHORS: - Md Mahiuddin Ahmed, Athena Ching-Jung Wang, Mihret Elos, Heidi J Chial, Stefan Sillau, D Adriana Solano, Christina Coughlan, Leila Aghili, Paige Anton, Neil Markham, Vanesa Adame, Katheleen J Gardiner, Timothy D Boyd, Huntington Potter

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; University of Colorado Alzheimers and Cognition Center, Aurora, CO 80045, USA; Linda Crnic Institute for Down Syndrome, University of Colorado A 

RESUMEN / SUMMARY: - Down syndrome (DS) is characterized by chronic neuroinflammation, peripheral inflammation, astrogliosis, imbalanced excitatory/inhibitory neuronal function, and cognitive deficits in both humans and mouse models. Suppression of inflammation has been proposed as a therapeutic approach to treating DS co-morbidities, including intellectual disability (DS/ID). Conversely, we discovered previously that treatment with the innate immune system stimulating cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF), which has both pro- and anti-inflammatory activities, improved cognition and reduced brain pathology in a mouse model of Alzheimers disease (AD), another inflammatory disorder, and improved cognition and reduced biomarkers of brain pathology in a phase II trial of humans with mild-to-moderate AD. To investigate the effects of GM-CSF treatment on DS/ID in the absence of AD, we assessed behavior and brain pathology in 12-14 month-old DS mice (Dp[16]1Yey) and their wild-type (WT) littermates, neither of which develop amyloid, and found that subcutaneous GM-CSF treatment (5 μg/day, five days/week, for five weeks) improved performance in the radial arm water maze in both Dp16 and WT mice compared to placebo. Dp16 mice also showed abnormal astrocyte morphology, increased percent area of GFAP staining in the hippocampus, clustering of astrocytes in the hippocampus, and reduced numbers of calretinin-positive interneurons in the entorhinal cortex and subiculum, and all of these brain pathologies were improved by GM-CSF treatment. These findings suggest that stimulating and/or modulating inflammation and the innate immune system with GM-CSF treatment may enhance cognition in both people with DS/ID and in the typical aging population.

Neurology - Neurología

TÍTULO / TITLE:   - Down syndrome and the autonomic nervous system, an educational review for the anesthesiologist

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REVISTA / JOURNAL:    - Paediatr Anaesth. 2022 Feb 13. doi: 10.1111/pan.14416. Online ahead of print.

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AUTORES / AUTHORS: - Jamie W Sinton, David S Cooper, Susan Wiley

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology, Cincinnati Childrens Hospital Medical Center, Cincinnati, Ohio, USA 

RESUMEN / SUMMARY: - Approximately one in every 700 babies in the United States is born with Down syndrome, or 0.14%. Children with Down syndrome have cognitive impairment and congenital malformations necessitating frequent occurrences of general anesthesia and surgery. The thoughtful perioperative care of children with Down syndrome is relevant and acutely complex for the pediatric anesthesiologist. Behavior, sedation, hypotonia, upper airway obstruction, venous access, and bradycardia are omnipresent concerns apart from the surgical pathology. Down syndrome is also associated with autonomic nervous system dysfunction, a comorbidity that is overlooked in discussions of perioperative care and is described thus far in adults. Autonomic nervous system function or dysfunction may explain the phenotypical features of the perioperative challenges listed above. For this reason, understanding the development and measurement of autonomic nervous system function is important for the pediatric anesthesiologist. Definition and quantification of sympathetic and parasympathetic function will be reviewed.

TÍTULO / TITLE:   - Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations

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REVISTA / JOURNAL:    - BMJ Case Rep. 2022 Mar 4;15(3):e246168. doi: 10.1136/bcr-2021-246168.

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AUTORES / AUTHORS: - Deborah Kathleen Rose, Lauren Chamberlain, Jeffrey Ashton, Shadi Yaghi, Erik F Hauck, Brian Mac Grory

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA 

RESUMEN / SUMMARY: - An 18-year-old woman with a history of Down syndrome (DS) presented with left upper extremity weakness. Neurological examination revealed moderate hypotonia throughout, with mild spasticity of the left ankle. She had 2/5 left upper and lower extremity strength, mild pronation with drift in the left arm and 3+ deep tendon reflexes in the left biceps, brachioradialis, patellar and Achilles. Strength was 5/5 in the right upper and lower extremities. A CT angiography of the head and neck with contrast demonstrated severe narrowing of the bilateral supraclinoid internal carotid arteries (ICAs), suggestive of moyamoya pattern. A diagnostic angiography confirmed stenosis in the right and left supraclinoid ICAs. The patient was started on aspirin therapy and underwent an indirect bypass procedure via encephaloduroarteriosynangiosis 6 weeks after initial presentation. DS is associated with a high risk of congenital heart disease, which in turn increases risk of stroke, namely cardioembolic events, including moyamoya disease. Intellectual disability is nearly ubiquitous in DS, thus adding to the challenges of making a diagnosis of moyamoya in this population.

TÍTULO / TITLE:   - The relation between gestures and stuttering in individuals with Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jan 24. doi: 10.1111/jar.12980. Online ahead of print

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AUTORES / AUTHORS: - Babette Maessen, Ellen Rombouts, Bea Maes, Inge Zink

INSTITUCIÓN / INSTITUTION: - Department of Neurosciences, Experimental Otorhinolaryngology, Leuven, Belgium 

RESUMEN / SUMMARY: - Background: Evidence shows that neurotypical individuals who stutter use fewer gestures than those who do not stutter. Presently, no research exists about the interaction of stuttering and gestures in individuals with Down syndrome. Method: Twenty-nine individuals with Down syndrome (7-19 years) of whom 16 stuttered and 13 spoke fluently and 20 neurotypical children (3-10 years) of whom 8 stuttered and 12 spoke fluently participated in this study. In spontaneous speech transcriptions, stuttering events and gestures were coded. Results: Comparisons of gesture frequency during stuttered and fluent speech inside the Down syndrome and neurotypical group show that the Down syndrome group uses significantly more gestures during stuttered than during fluent speech while no significant difference is seen in the neurotypical group. Conclusions: There is some preliminary evidence that individuals with Down syndrome try to compensate for their stuttering events, however, analyses on word level are necessary to confirm a successful compensation.

TÍTULO / TITLE:   - Influence of gestures on the intelligibility and comprehensibility of utterances with stuttering events in individuals with Down syndrome

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REVISTA / JOURNAL:    - J Commun Disord. Jan-Feb 2022;95:106178. doi: 10.1016/j.jcomdis.2021.106178. Epub 2021 Dec 5.

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AUTORES / AUTHORS: - Babette Maessen, Ellen Rombouts, Bea Maes, Inge Zink

INSTITUCIÓN / INSTITUTION: - Department of Neurosciences, Experimental Otorhinolaryngology, KU Leuven., Herestraat 49, bus 721 Leuven, 3000 Belgium.  

RESUMEN / SUMMARY: - Introduction: Individuals with Down syndrome (DS) often stutter, which can affect their speech intelligibility. Previous research has shown that manual signs can enhance speech intelligibility and comprehensibility. It remains unclear to what extent spontaneous hand gestures, such as iconic and beat gestures, may enhance intelligibility and/or comprehensibility during utterances with stuttering events. Methods: Eleven individuals with DS who stutter provided video-recorded speech samples. From these samples, 60 utterances containing a stuttering event were selected. In half of them, the stuttering events were accompanied by gestures; in the other half, the stuttering events were not accompanied by gestures. The samples were shown to 250 assessors who were blind to the studys goals. Each sample was shown in three visibility conditions: 1) video-with-audio, 2) video-with-audio but with the speakers mouth covered and 3) audio-only. The assessors rated speech intelligibility on a 7-point Likert scale and transcribed the speech sample. The effect of gesture production, gesture type and the visibility conditions on comprehensibility and intelligibility was examined with a hierarchical multiple linear regression. Results: When a speaker had used a gesture during a stuttering event, the Likert scale score increased with 0.47 and the accuracy of transcription with 9.07%. There was no difference in effect between the different gesture types. Despite the effect from gesture use, there was no effect of the visibility conditions on the Likert scale or transcription score. Conclusions: Gestures positively affect intelligibility and comprehensibility of utterances with stuttering events in individuals with DS by altering the speech production. The possibility of beat gestures as a therapy method should be examined, with caution for the development of maladaptive behaviours.

TÍTULO / TITLE:   - Response to treatment and outcomes of infantile spasms in Down syndrome

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REVISTA / JOURNAL:    - Dev Med Child Neurol. 2022 Jan 29. doi: 10.1111/dmcn.15153. Online ahead of print.

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AUTORES / AUTHORS: - Susan Harvey, Nicholas M Allen, Mary D King, Bryan Lynch, Sally A Lynch, Mary ORegan, Declan ORourke, Amre Shahwan, David Webb, Kathleen M Gorman, Irish Paediatric Neurology Group: J Aziz, M El Hassan, K Flynn, D Hanrahan, C Kehoe, C Leahy, N Lynch,

INSTITUCIÓN / INSTITUTION: - Department of Neurology and Clinical Neurophysiology, Childrens Health Ireland at Temple Street, Dublin, Ireland. 

RESUMEN / SUMMARY: - Aim: To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long-term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland. Method: This was a 10-year retrospective multicentre review of clinical records and investigations, focusing on treatment response, side effects, and long-term outcomes. Results: The prevalence of infantile spasms in Down syndrome was 3.0% during the study period. Fifty-four infants were identified with median age of spasm onset at 201 days (interquartile range [IQR] 156-242). Spasm cessation was achieved in 88% (n=46) at a median of 110 days (IQR 5-66). The most common first-line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. Seventeen children (31%) experienced medication side effects, with vigabatrin accounting for 52%. Interpretation: Prednisolone is an effective and well-tolerated medication for treating infantile spasms in Down syndrome. Despite the high percentage of spasm cessation, developmental concerns and ongoing seizures were common.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Management of Keratoconus in Down Syndrome and Other Intellectual Disability

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REVISTA / JOURNAL:    - Cornea. 2022 Apr 1;41(4):456-461. doi: 10.1097/ICO.0000000000002793.

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AUTORES / AUTHORS: - Kirk A J Stephenson 1, Barry Power, Diana Malata, Barry Quill, Conor C Murphy, William J Power

INSTITUCIÓN / INSTITUTION: - Royal Victoria Eye & Ear Hospital, Dublin, Ireland. 

RESUMEN / SUMMARY: - Purpose: The purpose of this study was to assess an intellectual disability (ID) cohort with keratoconus (KC) regarding ophthalmic (visual acuity and corneal tomography) and systemic characteristics and to describe an appropriate clinical algorithm for investigation and management of KC in this setting. Methods: This was the retrospective cohort study of patients with ID (Down syndrome, autism, and other) in the cornea department of a tertiary referral ophthalmic hospital in Dublin, Ireland. Retrospective chart review was conducted on people with ID undergoing examination under anesthesia or crosslinking under general anesthetic. Key outcome data included corneal examination findings, corneal tomography, visual acuity, and examination findings (eg, type of ID, general anesthetic, and cardiac status). Results: Mean age of the 24 patients was 31.9 years (66.7% male). ID type was Down syndrome (66.7%), autism (25%), and other (8.3%). KC was diagnosed in 98% of eyes, with 45.8% having untreatable advanced disease (57.1% of these bilateral), 39.6% amenable to corneal collagen crosslinking (35.7% of these bilateral), and 6.3% having corneal transplantation. Congenital heart defects were present in 37.5% of the Down syndrome group. There were no serious ocular or systemic adverse events. Conclusions: KC is strikingly prevalent in the ID population. Ireland has the highest rate of Down syndrome in Europe (26.3:10,000 live births). This group is rarely suitable for corneal transplantation, and corneal collagen crosslinking is an effective intervention to prevent progression to advanced KC in this already socially restricted group. We propose an algorithm for investigation/treatment and also recommend uniform pediatric KC screening/treatment in ID populations.

TÍTULO / TITLE:   - Visual and Refractive Status of Children With Downs Syndrome and Nystagmus

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REVISTA / JOURNAL:    - Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):28. doi: 10.1167/iovs.63.2.28. Free PMC article

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AUTORES / AUTHORS: - Asma A A Zahidi, Lee McIlreavy, Jonathan T Erichsen, J Margaret Woodhouse

INSTITUCIÓN / INSTITUTION: - Optometry Programme, School of Health Professions, University of Plymouth, Plymouth, United Kingdom. 

RESUMEN / SUMMARY: - Purpose: Children with Downs syndrome (DS) are known to have poorer visual acuity than neurotypical children. One report has shown that children with DS and nystagmus also have poor acuity when compared to typical children with nystagmus. What has not been established is the extent of any acuity deficit due to nystagmus and whether nystagmus affects refractive error within a population with DS. Methods: Clinical records from the Cardiff University Downs Syndrome Vision Research Unit were examined retrospectively. Binocular visual acuity and refraction data were available for 50 children who had DS and nystagmus and 176 children who had DS but no nystagmus. Data were compared between the two groups and with published data for neurotypical children with nystagmus. Results: The study confirms the deficit in acuity in DS, compared to neurotypical children, of approximately 0.2 logMAR and shows a deficit attributable to nystagmus of a further 0.2 logMAR beyond the first year of life. Children with both DS and nystagmus clearly have a significant additional impairment. Children with DS have a wide range of refractive errors, but nystagmus increases the likelihood of myopia. Prevalence and axis direction of astigmatism, on the other hand, appear unaffected by nystagmus. Conclusions: Nystagmus confers an additional visual impairment on children with DS and must be recognized as such by families and educators. Children with both DS and nystagmus clearly need targeted support.

TÍTULO / TITLE:   - Ciliary muscle thickness in adults with Down syndrome

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REVISTA / JOURNAL:    - Ophthalmic Physiol Opt. 2022 Mar 16. doi: 10.1111/opo.12974. Online ahead of print.

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AUTORES / AUTHORS: - Heather A Anderson, Melissa D Bailey, Ruth E Manny, Chiu-Yen Kao

INSTITUCIÓN / INSTITUTION: - College of Optometry, The Ohio State University, Columbus, Ohio, USA. 

RESUMEN / SUMMARY: - Purpose: The relationship between ciliary muscle thickness (CMT), age and refractive error was investigated to determine if CMT, like other anterior ocular anatomy, differs in adults with Down syndrome (DS). Methods: The CMT of 33 adults with DS was imaged using anterior segment optical coherence tomography. Images from the right eye obtained 45 minutes after cycloplegia (1% tropicamide, 2.5% phenylephrine) were analysed to calculate thickness at 1, 2 and 3 mm posterior to the scleral spur (CMT1, CMT2, CMT3), maximum thickness (CMTMAX) and apical thickness (AT = CMT1 - CMT2). Spherical equivalent refractive error was determined by clinical refraction using both non-dilated and dilated measures. Multivariate regression analysis evaluated the relationship between CMT and refractive error while controlling for subject age. Results: Images were analysed from 26 subjects (mean age (SD) 29 years; mean refractive error (SD): −0.90 (5.03) D, range: −15.75 to +5.13D). Mean (SD) CMT decreased with posterior position (CMT1: 804 (83) μm; CMT2: 543 (131) μm; CMT3: 312 (100) μm). Mean (SD) CMTMAX and AT was 869 (57) μm and 260 (84) μm, respectively. There was a significant linear correlation indicating thinning CMT with increasing age for CMT1 and CMT2 (p ≤0.05). CMT2 and CMT3 had a significant negative correlation (thicker muscle with increasing myopic refractive error) (p ≤0.01). AT had a significant positive correlation (thicker muscle with increasing hyperopic refractive error) (p <0.01). Conclusions: Ciliary muscle thickness in participants with DS was found to be in a similar range with similar refractive error trends to previous reports of individuals without DS. However, it is important to note that the refractive error trends were driven by individuals with moderate to high levels of myopia.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Down Syndrome-Associated Arthritis (DA): Diagnostic and Management Challenges

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REVISTA / JOURNAL:    - Pediatric Health Med Ther. 2022 Mar 14;13:53-62. doi: 10.2147/PHMT.S282646. eCollection 2022. Free

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AUTORES / AUTHORS: - Jordan T Jones, Jacqueline Kitchen, Nasreen Talib

INSTITUCIÓN / INSTITUTION: - Division of Rheumatology, Childrens Mercy Kansas City, Kansas City, MO, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) is one of the most common birth defects in the United States, the most common genomic disorder of intellectual disability, and results from trisomy 21. This chromosome disorder causes an extensive, heterogenous phenotype that results in a broad presentation of symptoms that includes atlantoaxial instability, congenital heart defects, muscle hypotonia, hypothyroidism, hematologic disorders, recurrent infections, and autoimmune diseases. The autoimmune diseases are caused by immune system dysregulation that results in increased pro-inflammatory cytokines, along with other innate and adaptive immune system dysregulation. This is the likely cause of the increased risk of inflammatory arthritis or Down syndrome-associated arthritis (DA) seen in individuals with DS. Most individuals with DA present with polyarticular (five or more joints with arthritis at presentation of disease), rheumatoid factor and anti-nuclear antibody negative disease that is aggressive with bone and joint damage at presentation. There is notable delay in diagnosis of DA as there are no formal guidelines on screening or monitoring for inflammatory arthritis in individuals with DS. Once diagnosed, and despite aggressive therapy with disease modifying antirheumatic drugs, disease burden is high for those with DA. Therapy can also be challenging for those with DA as many require second and third-line disease modifying therapies. Many also struggle with medication toxicity and ineffectiveness that further causes challenges with management and outcomes. The purpose of this current review is to provide an up-to-date summary of the literature related to DA in children and adolescents with focus on presentation, diagnosis, and management considerations, along with current barriers that inhibit optimal care.

TÍTULO / TITLE:   - C-arm Free O-arm Navigated Posterior Atlantoaxial Fixation in Down Syndrome: A Technical Note

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REVISTA / JOURNAL:    - Acta Med Okayama. 2022 Feb;76(1):71-78.doi: 10.18926/AMO/63214. Free article

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AUTORES / AUTHORS: - Masato Tanaka, Sumeet Sonawane, Yoshihiro Fujiwara, Koji Uotani, Shinya Arataki, Taro Yamauchi, Youchen Ye, Haruo Misawa

INSTITUCIÓN / INSTITUTION: - Department of Orthopaedic Surgery, Okayama Rosai Hospital. 

RESUMEN / SUMMARY: - The surgical treatment of pediatric atlantoaxial subluxation (AAS) in Down syndrome (DS) remains technically challenging due to radiation exposure and complications such as vertebral artery injury and nonunion. The established treatment is fixation with a C1 lateral mass screw and C2 pedicle screw (modified Goel technique). However, this technique requires fluoroscopy for C1 screw insertion. To avoid exposing the operating team to radiation we present here a new C-arm free O-arm navigated surgical procedure for pediatric AAS in DS. A 5-year-old male DS patient had neck pain and unsteady gait. Radiograms showed AAS with an atlantodental interval of 10 mm, and irreducible subluxation on extension. CT scan showed Os odontoideum and AAS. MRI demonstrated spinal cord compression between the C1 posterior arch and odontoid process. We performed a C-arm free O-arm navigated modified Goel procedure with postoperative halo-vest immobilization. At oneyear follow-up, good neurological recovery and solid bone fusion were observed. The patient had no complications such as epidural hematoma, infection, or nerve or vessel injury. This novel procedure is a useful and safe technique that protects surgeons and staff from radiation risk.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study

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REVISTA / JOURNAL:    - Minerva Pediatr (Torino). 2022 Feb;74(1):31-39. doi: 10.23736/S2724-5276.18.05041-7. Epub 2018 Feb

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AUTORES / AUTHORS: - Bruno Corrado, Nadia Sommella, Gianluca Ciardi, Enza Raiano, Iris Scala, Pietro Strisciuglio, Clemente Servodio Iammarrone

INSTITUCIÓN / INSTITUTION: - Unit of Physio-kinesitherapy, University of Naples Federico II, Naples, Italy  

RESUMEN / SUMMARY: - Background: The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognitive skills. The study objectives were: 1) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome; 2) to examine differences in walking onset by patient characteristics; and 3) to verify the effect of early physical therapy (neurodevelopmental treatment based on Bobath Concept practiced within the first months of life) in the achievement of that skill. Methods: A retrospective study was carried out on a cohort of 86 children with Down Syndrome. The knowledge of the exact age of walking onset and information about comorbidities and rehabilitation practiced since birth were the eligibility criteria. Results: The average age at which walking began in the sample was 26 months (standard deviation=9.66). Some patient characteristics proved to be related negatively to the walking onset: gender male, trisomy 21, improved joint ligamentous laxity. When practiced, early physical therapy was able to contrast the delay in walking. Conclusions: NDT-Bobath is a well-known and valid instrument for a child with Down syndrome to attain his highest possible psychomotor functioning level. This study pointed out for the first time ever its capability to contrast the delay on walking onset, which can influence positively the development of the following motor and cognitive skills.

TÍTULO / TITLE:   - Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Feb 2. doi: 10.1111/jar.12979. Online ahead of print

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AUTORES / AUTHORS: - Nicolas M Oreskovic, Stamatis Agiovlasitis, Vasiliki Patsiogiannis, Stephanie L Santoro, Dominica Nichols, Brian G Skotko

INSTITUCIÓN / INSTITUTION: - DS Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - Background: Adults with Down syndrome commonly have low levels of physical activity and face social barriers to engaging in physical activity, including boredom and companionship concerns. Adults with Down syndrome are at increased risk for several co-occurring medial conditions known to benefit from physical activity, including obesity and dementia. Method: This study surveyed 140 caregivers of adults with Down syndrome to determine the physical activity preferences of their adult with Down syndrome. Results: Dancing was the most frequently caregiver-reported physical activity preference for adults with Down syndrome, followed by walking and active video gaming. Rowing, using an elliptical machine, and jogging were the least preferred activities. Most caregivers reported that their adult with Down syndrome has a companion available for physical activity. Conclusion: Promoting dance in adults with Down syndrome, a caregiver-reported preferred form of physical activity, may help improve physical activity levels and decrease sedentary behaviours in this population.

TÍTULO / TITLE:   - Motor Competence in Individuals with Down Syndrome: Is an Improvement Still Possible in Adulthood?

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Feb 14;19(4):2157. doi: 10.3390/ijerph19042157. Free PMC arti

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AUTORES / AUTHORS: - Federico Quinzi, Giuseppe Vannozzi, Valentina Camomilla, Maria Francesca Piacentini, Florin Boca, Eric Bortels, Eva Kathrein, Adrian Magyar, Fabio Verdone, Paola Sbriccoli

INSTITUCIÓN / INSTITUTION: - Department of Human Movement and Health Science, University of Rome "Foro Italico", 00135 Rome, Italy. 

RESUMEN / SUMMARY: - In children, motor competence (MC) and the amount of physical activity are tightly interconnected. In adults with Down syndrome (DS), MC has been poorly addressed, resulting in a limited understanding of the possibility to improve MC over time. Here, we aim to: (1) investigate MC in adults with DS by comparing them with a group of typically developed peers and (2) verify the effect of an adapted karate program on MC. Adults with DS (DSG; n = 57) and typically developed adults (TDG; n = 21) performed the Test of Gross Motor Development version 3 (TGMD-3). The total TGMD-3 score (TOTTGMD-3), the locomotor (LOCTGMD-3), and object control (OBJTGMD-3) scores were computed. After a 40 week adapted karate program, DSG (n = 37) underwent the post-training TGMD-3 assessment. Compared to TDG, DSG showed lower TOTTGMD-3 (DSG: 45.5 ± 17.3; TDG: 77.3 ± 9.5), LOCTGMD-3 (DSG: 22.2 ± 10.0; TDG: 36.2 ± 7.6) and OBJTGMD-3 (DSG: 23.3 ± 10.9; TDG: 41.1 ± 5.6). After the training, TOTTGMD-3, LOCTGMD-3 and OBJTGMD-3 increased by 35.6%, 30.0% and 40.7%, respectively. Our results suggest that MC acquisition does not evolve into a mature form in adulthood in individuals with DS. Moreover, a brief exposure to an adapted karate program induces an increase in motor competence in DS, even in adulthood.

TÍTULO / TITLE:   - Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review

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REVISTA / JOURNAL:    - Clin Exp Pediatr. 2022 Mar;65(3):142-149. doi: 10.3345/cep.2021.00479. Epub 2021 Jun 11. Free PMC a

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AUTORES / AUTHORS: - Preyal D Jain, Akshatha Nayak, Shreekanth D Karnad, Kaiorisa N Doctor

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, India. 

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible for the developmental challenges faced by children with Down syndrome. These individuals also present with balance dysfunctions. Purpose: This systematic review aims to describe the motor dysfunction and balance impairments in children and adolescents with Down syndrome. Methods: We searched the Scopus, ScienceDirect, MEDLINE, Wiley, and EBSCO databases for observational studies evaluating the motor abilities and balance performance in individuals with Down syndrome. The review was registered on PROSPERO. Results: A total of 1,096 articles were retrieved; after careful screening and scrutinizing against the inclusion and exclusion criteria, 10 articles were included in the review. Overall, the children and adolescents with Down syndrome showed delays and dysfunction in performing various activities such as sitting, pulling to stand, standing, and walking. They also presented with compensatory mechanisms to maintain their equilibrium in static and dynamic activities. Conclusion: The motor development of children with Down syndrome is significantly delayed due to structural differences in the brain. These individuals have inefficient compensatory strategies like increasing step width, increasing frequency of mediolateral center of pressure displacement, decreasing anteroposterior displacement, increasing trunk stiffness, and increasing posterior trunk displacement to maintain equilibrium. Down syndrome presents with interindividual variations; therefore, a thorough evaluation is required before a structured intervention is developed to improve motor and balance dysfunction

TÍTULO / TITLE:   - Dual-Task Interference in Children with Down Syndrome and Chronological and Mental Age-Matched Healthy Controls

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REVISTA / JOURNAL:    - Children (Basel). 2022 Feb 2;9(2):191. doi: 10.3390/children9020191. Free PMC article

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AUTORES / AUTHORS: - Benjamin Holfelder, Thomas Jurgen Klotzbier, Nadja Schott

INSTITUCIÓN / INSTITUTION: - Department of Sport and Exercise Science, Institute of Sport Psychology and Movement Performance, University of Stuttgart, 70174 Stuttgart, Germany. 

RESUMEN / SUMMARY: - Background: On the assumption that motor actions result from the interaction between cognitive, perceptual, and neurological mechanisms, neuromotor dysfunction-such as in children with Down Syndrome (DS)-is expected to affect the central coordination processes required for dual-task (DT) performance. There are few dual-task (DT) studies in individuals with DS, so the current study examined the effects of dual-tasking (DT) on walking performance in children with DS. Method: In this study, a motor-cognitive DT was used in 12 children with DS (10.5 ± 1.08 years, 6 female), 12 typically developed (TD) children with the same mental age (TD-MA: 5.98 ± 1.21 years, 6 female), and 12 with the same chronological age (TD-CA: 10.5 ± 1.07 years, 6 female). Children were asked to enumerate animals for one minute while walking straight ahead. Results: All groups showed lower performances under the DT condition than the single-task (ST) condition. Children with DS appear to have the most difficulties in motor and cognitive tasks and ST- and DT-conditions. Concerning the DT costs (DTC), difficulties were mainly observed with the motor task, with motor DTC being greater than cognitive DTC. Conclusion: The interplay of different systems seems to play a crucial role in walking, especially in children with DS. DT walking paradigms with directional changes are recommended for future studies, as this is more appropriate for the everyday demands of children.

TÍTULO / TITLE:   - Effects of Traditional Indian Dance on Motor Skills and Balance in Children with Down syndrome

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REVISTA / JOURNAL:    - J Mot Behav. 2022;54(2):212-221. doi: 10.1080/00222895.2021.1941736. Epub 2021 Jul 8.

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AUTORES / AUTHORS: - Manasa Kolibylu Raghupathy 1, Mohan Divya 1, Suruliraj Karthikbabu 1

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Manipal College of Health Professions, Manipal Academy of Higher Education, Manipal Hospital, Bangalore, India. 

RESUMEN / SUMMARY: - . The objective of the study was to examine the effects of traditional Indian dances like Bharatanatyam, Kuchipudi and Kathak on motor skills and balance in children with Down syndrome compared to neuromuscular training. In this randomised double-arm design, 36 children with Down syndrome aged 6-10 years and with a score of <5 in Beightons hypermobility test participated in either Indian classical dance (n = 18) or neuromuscular training (n = 18). Both the groups practised an hour-long session a day, three days a week for six weeks in six special-schools. Test of Gross Motor Development-2 (TGMD-2), Four Square Step Test (FSST) and paediatric balance scale were the outcome measures. After six weeks of training, there is a significant group difference of change score in the Gross Motor Quotient standard score of TGMD-2 [experimental: 30.47 vs. control: 11.1], locomotor subset of TGMD-2 [experimental: 11.1 vs. control: 4.35] and FSST [experimental: 4.29 vs. control: 2.41], but not in the paediatric balance scale [experimental: 3.59 vs. control: 3.76]. The traditional Indian dance substantially improved the locomotor skills of children with Down syndrome than that of neuromuscular exercises. Both the dance and neuromuscular training equally impacted the balance capacity.

TÍTULO / TITLE:   - Assessing motor competence in kicking in individuals with Down syndrome through wearable motion sensors

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Jan 26. doi: 10.1111/jir.12914. Online ahead of print.

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AUTORES / AUTHORS: - .F Quinzi, V Camomilla, P Sbriccoli, M F Piacentini, G Vannozzi

INSTITUCIÓN / INSTITUTION: - Department of Human Movement and Health Science, University of Rome Foro Italico, Rome, Italy. 

RESUMEN / SUMMARY: - .Background: Kicking a ball is a very frequent action in sport and leisure time activities and a low proficiency in this skill could limit the participation in recreational sport activities. This issue is emphasised in individuals with Down syndrome (IDS) for which data about motor competence in kicking are limited to children. Here, we aim at evaluating the kicking competence of IDS combining a qualitative and a quantitative method. Methods: Twenty-three adult IDS and 21 typically developed individuals (ITD) volunteered to participate in the study. Peak-to-peak 3D linear acceleration and angular velocity were recorded at 200 samples/s using two inertial measurement units placed on the lower back and lateral malleolus of the dominant limb during kicking. Motor competence in kicking was assessed according to the criteria proposed in the test of gross motor development version 3 (TGMD-3). Results: Individuals with Down syndrome showed lower motor competence (ITD: 5.9 ± 1.2; IDS: 3.2 ± 2.0) and lower angular velocities about the cranio-caudal (ITD: 3.0 ± 1.8; IDS: 2.1 ± 1.1 rad/s) and medio-lateral axes (ITD: 4.5 ± 1.5; IDS: 3.0 ± 1.1 rad/s) of the trunk compared with ITD. Shank angular velocity about the medio-lateral axis was lower in IDS (ITD: 14.3.6 ± 4.0; IDS: 9.9 ± 2.8 rad/s). Conclusions: The lower trunk angular velocity in IDS may limit the possibility to rely on the proximal-to-distal sequencing commonly observed in kicking and generate high shank angular velocity upon ball impact. The lower trunk angular velocity may result from orthopaedic features of the pelvic girdle and possibly from a poorer neuromuscular control of core muscles.

TÍTULO / TITLE:   - Predictive equations to estimate peak aerobic capacity and peak heart rate in persons with Down syndrome

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REVISTA / JOURNAL:    - J Appl Physiol (1985). 2022 Feb 1;132(2):423-433. doi: 10.1152/japplphysiol.00421.2021. Epub 2021 D

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AUTORES / AUTHORS: - Goncalo V Mendonca, Ine.s Santos, Bo Fernhall, Tracy Baynard

INSTITUCIÓN / INSTITUTION: - Neuromuscular Research Lab, Faculdade de Motricidade Humana, Universidade de Lisboa, Oeiras, Portugal. 

RESUMEN / SUMMARY: - Estimations based on the available equations for predicting oxygen uptake (Vo2) from treadmill speed of locomotion are not appropriate for individuals with Down syndrome (DS). We aimed at developing prediction models for peak absolute oxygen uptake (Vo2peak) and peak heart rate (HRpeak) based on retrospective data from a healthy population with and without Down syndrome (DS). A cross-sectional analysis of V̇o2peak and HRpeak was conducted in 196 and 187 persons with and without DS, respectively, aged from 16 to 45 yr. Nonexercise data alone versus combined with HRpeak were used to develop equations predictive of absolute Vo2peak. Prediction equations for HRpeak were also developed. Two additional samples of participants (30 with, 29 without DS) enabled model cross-validation. Relative V̇o2peak and HRpeak were lowest for persons with DS across all ages (∼40% and 20 beats·min-1, respectively). For persons with DS, V̇o2peak predictions provided no differences compared with actual values. Predicted HRpeak was similar to actual values in both groups of participants. Large limits of agreement were obtained for V̇o2peak (DS: 735, non-DS: 558.2 mL·min-1) and HRpeak (DS: 24.8, non-DS: 16.6 beats·min-1). Persons with DS exhibit low levels of V̇o2peak and HRpeak in all age groups included in this study. It is possible to estimate absolute V̇o2peak in persons with DS using nonexercise variables. HRpeak can be accurately estimated in groups of people with and without DS. Yet, because of large limits of agreement, caution is advised if using these equations for individual estimations of V̇o2peak or HRpeak in either population.New & noteworthy Our data show that it is possible to estimate absolute peak oxygen uptake in persons with Down syndrome using nonexercise variables. Peak heart rate can also be accurately estimated in groups of people with and without Down syndrome. However, because of large limits of agreement, caution is advised if

TÍTULO / TITLE:   - Accelerometer-based estimation of oxygen uptake in adults with Down syndrome: vector magnitude vs. vertical axis

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REVISTA / JOURNAL:    - Intellect Disabil Res. 2022 Apr;66(4):368-375. doi: 10.1111/jir.12923. Epub 2022 Feb 17.

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AUTORES / AUTHORS: - B K Ballenger, E E Schultz, M Driskill, S Richardson, Q Du, R W Motl, S Agiovlasitis

INSTITUCIÓN / INSTITUTION: - Department of Kinesiology, Mississippi State University, Mississippi State, MS, USA 

RESUMEN / SUMMARY: - Background: Triaxial accelerometer output [vector magnitude (VM) counts] may better estimate physical activity intensity as reflected in the rate of oxygen uptake (VO2 ) than the traditional vertical axis (VA) counts in adults with Down syndrome (DS). This study examined the accuracy of VM vs. VA counts in estimating V̇O2 in adults with and without DS across different physical activities and sedentary behaviours. Methods: Sixteen adults with DS (10 men and 6 women; 31 ± 15 years) and 19 adults without DS (10 men and 9 women; 24 ± 5 years) performed 12 tasks. VO2 was measured by portable spirometer (K4b2 , Cosmed) and VM and VA with an accelerometer (wGT3X-BT, Actigraph). Results: Vector magnitude and VA were significant predictors of VO2 in adults with DS (P < 0.001; R2 = 0.74 and 0.65, respectively) and adults without DS (P < 0.001; P < 0.001; R2 = 0.75 and 0.61, respectively). Absolute error of prediction was significantly smaller for VM than VA for sitting, playing app, drawing, sweeping, standing and basketball (P ≤ 0.005), but smaller for VA than VM for walking at 0.8 m·s-1 (P = 0.005). Bland-Altman plots for adults with and without DS indicated narrower limits of agreement for VM than VA (-5.57 to 5.57 and -6.44 to 6.44 mL·kg-1 ·min-1 ; -6.21 to 6.17 and -7.75 to 7.74 mL·kg-1 ·min-1 , respectively). Conclusions: Vector magnitude and VA are significant predictors of VO2 in adults with and without DS, yet VM more accurately estimated VO2 than VA for most tasks. Development of accelerometer-based prediction of physical activity levels in adults with and without DS may improve by utilising VM counts.

TÍTULO / TITLE:   - Analysis of the relationship between muscular strength and joint stiffness in children with Down syndrome during drop landing

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REVISTA / JOURNAL:    - Technol Health Care. 2022;30(S1):383-390. doi: 10.3233/THC-THC228035

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AUTORES / AUTHORS: - Dohoon Koo, Prabhat Pathak, Jeheon Moon, Siddhartha Bikram Panday

INSTITUCIÓN / INSTITUTION: - Department of Exercise Prescription, Jeonju University, Chonbuk, Korea 

RESUMEN / SUMMARY: - Background: Children with Down syndrome (DS) have critical biomechanical impairments such as increased ligamentous laxity, muscle hypotonia, and dysfunctional motor coordination, which makes performing everyday tasks challenging. Objective: The purpose of the study was to explore the differences in the vertical joint stiffness, plantar force, and range of motion during drop landing for DS and age-matched typically developing children. Methods: Six young male children with DS and age-matched seven healthy typically developing children (TD) assessed joint strength using an isokinetic dynamometer and performed five trials of single-leg drop jump using force platform and motion capture system. Results: The peak vertical ground reaction force (VGRF), Range of motion (ROM), joint stiffness, and joint strength of lower limb were calculated and compared across DS and TD groups. The results revealed a significantly larger peak VGRF [z=-2.857, p< 0.001] values for the DS group compared to the TD groups. The results of Spearmans correlation analysis showed a negative correlation between hip joint stiffness and knee joint ROM [r=-0.886, p< 0.05] and ankle joint stiffness and knee joint ROM [r=-0.829, p< 0.05] for DS. Conclusions: The abnormal movements observed among DS was not due to the difference in stiffness of the lower extremity but due to the utilization of different landing mechanisms with changes in ROM

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - Rapid and Label-Free Prenatal Detection of Downs Syndrome Using Body Fluid Surface Enhanced Raman Spectroscopy

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REVISTA / JOURNAL:    - J Biomed Nanotechnol. 2022 Jan 1;18(1):243-250. doi: 10.1166/jbn.2022.3222.

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AUTORES / AUTHORS: - Qiong Wu, Lin Zheng, Hailong Huang, Huijing Lin, Xueliang Lin, Liangpu Xu, Rong Chen, Duo Lin, Guannan Chen

INSTITUCIÓN / INSTITUTION: - Key Laboratory of OptoElectronic Science and Technology for Medicine, Ministry of Education, Fujian Provincial Key Laboratory for Photonics Technology, Fujian Normal University, Fuzhou 350007, China. 

RESUMEN / SUMMARY: - Downs syndrome (DS) is the leading genetic cause of intellectual disability. In this work, the surface enhanced Raman spectroscopy (SERS) was used for the detection of amniotic fluid and plasma from pregnant women with DS fetus for the first time. High-quality and characteristic spectral features of amniotic fluid and plasma samples from DS groups can be obtained in comparison to normal group. Moreover, principal component analysis with linear discriminant analysis was applied to generate the efficient diagnostic model, achieving accuracies of 94.3% and 88.5% for the DS detection with amniotic fluid and plasma samples, respectively. This preliminary study would provide a novel, convenient and accurate prenatal test based on blood SERS technology for clinical DS screening.

TÍTULO / TITLE:   - Communicating a neonatal diagnosis of Down syndrome to parents

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REVISTA / JOURNAL:    - Arch Dis Child. 2022 Apr;107(4):409-411. doi: 10.1136/archdischild-2021-323542. Epub 2022 Feb 21.

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AUTORES / AUTHORS: - Katie Valentine, Sophie Reynolds, Dervla Donegan, Fairuz Wahida Ghazali, Danyal Khan, En Qing Lim, Mai Nur Sariah Mair Nasser, Fiona Mc Grane, Beth Corcoran, Claire Purcell, Eman Isweisi, Niamh Cathin, Edna F Roche, Judith Meehan, John Allen, Elea

INSTITUCIÓN / INSTITUTION: - Discipline of Paediatrics, Trinity College, the University of Dublin, Dublin, Ireland. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Cost of providing cell-free DNA screening for Down syndrome in Finland using different strategies

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REVISTA / JOURNAL:    - J Perinat Med. 2021 Dec 3;50(3):233-243. doi: 10.1515/jpm-2021-0467. Print 2022 Mar 28.

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AUTORES / AUTHORS: - Howard Cuckle, Seppo Heinonen, Anna-Kaisa Anttonen, Vedran Stefanovic

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel. Department of Obstetrics and Gynecology, Fetomaternal Medical Centre, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. 

RESUMEN / SUMMARY: - Objectives: A financial analysis is carried out to assess costs and benefits of providing cell-free DNA screening in Finland, using different strategies. Methods: Three cell-free DNA screening strategies are considered: Primary, all women; Secondary, those with positive Combined test; and Contingent, the 10-30% with the highest Combined test risks. Three costs are estimated: additional cost for 10,000 pregnancies compared with the Combined test; marginal cost of avoiding a Down syndrome birth which occurs in a pregnancy that would have been false-negative using the Combined test; and marginal cost of preventing the iatrogenic loss of a non-Down syndrome birth which occurs in a pregnancy that would have been false-positive. Results: Primary cell-free DNA will require additional funds of €250,000. The marginal cost per Down syndrome birth avoided is considerably less than the lifetime medical and indirect cost; the marginal cost per unaffected iatrogenic fetal loss prevented is higher than one benefit measure but lower than another. If the ultrasound component of the Combined test is retained, as would be in Finland, the additional funds required rise to €992,000. Secondary cell-free DNA is cost-saving as is a Contingent strategy with 10% selected but whilst when 20-30% costs rise they are much less than for the Primary strategy and are cost-beneficial. Conclusions: When considering the place of cell-free DNA screening it is important to make explicit the additional and marginal costs of different screening strategies and the associated benefits. Under most assumptions the balance is favorable for Contingent screening.

TÍTULO / TITLE:   - Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome

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REVISTA / JOURNAL:    - Prenat Diagn. 2022 Feb 26. doi: 10.1002/pd.6126. Online ahead of print.

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AUTORES / AUTHORS: - Fredrik Persson, Howard S Cuckle

INSTITUCIÓN / INSTITUTION: - Vanadis Diagnostics, PerkinElmer Inc., Sollentuna, Sweden. 

RESUMEN / SUMMARY: - Background: There is a significant variability in reported fetal fraction (FF), a common cause for no-calls in cell-free (cf)DNA based non-invasive prenatal screening. We examine the effect of imprecision in FF measurement on the performance of cfDNA screening for Down syndrome, when low FF samples are classified as no-calls. Methods: A model for the reported FF was constructed from the FF measurement precision and the underlying true FF. The model was used to predict singleton Down syndrome detection rates (DRs) for various FF cut-offs and underlying discriminatory powers of the test. Results: Increasing the FF cut-off led to slightly increased apparent DR, when no-calls are excluded, and an associated larger decrease in effective DR, when no-calls are included. These effects were smaller for tests with higher discriminatory power and larger as maternal weight increased. Conclusions: Most no-calls due to a low reported FF have a true FF above the cut-off. The discriminatory power of a test limits its effective DR and FF precision determines the tradeoff between apparent and effective DR when low FF is used to discard samples. Tests with high discriminatory power do not benefit from current FF measurements.

TÍTULO / TITLE:   - The screening of diagnostic biomarker microRNA in first-trimester maternal plasma for Down syndrome: A study protocol

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REVISTA / JOURNAL:    - Medicine (Baltimore). 2022 Jan 21;101(3):e28495. doi: 10.1097/MD.0000000000028495. Free PMC artic

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AUTORES / AUTHORS: - Fengping He, Xiangkang Yang

INSTITUCIÓN / INSTITUTION: - Department of Prenatal Diagnosis Laboratory, Zhoushan Women and Childrens Hospital, Zhoushan, Zhejiang, China. 

RESUMEN / SUMMARY: - Background: The trisomy of human chromosome 21 causes Down syndrome (DS), sometimes known as congenital follys syndrome. The survivors show apparent mental impairment, unusual facial traits, growth and development abnormalities, and various deformities, with 60 percent of the infants having miscarriages in the early stages of the fetus. Plasma micRNA (miRNA) is a new diagnostic biomarker for DS; however, its significance in first-trimester maternal plasma is unknown. As a result, the purpose of this study is to assess the diagnostic significance of the biomarker miRNA in first-trimester maternal plasma for DS. Materials and methods: From January 2014 until the present, blood samples were obtained from pregnant women who visited our hospital. This study included 20 eligible DS pregnancies and 20 normal pregnant women. We looked at the differential miRNA expression profile in DS maternal plasma from the first and second trimesters using miRNA microarrays. Bioinformatics technology was used to compare the particular miRNA in DS maternal plasma from the first and second trimesters and screen the miRNA co-expressed in DS maternal plasma. Meanwhile, the expression level of chosen miRNAs was verified using quantitative real-time PCR (qRT-PCR). Discussion: This study aims to see how useful the diagnostic biomarker miRNA in first-trimester maternal plasma is for diagnosing DS. The findings of this investigation will provide clinical evidence for the discovery of a new diagnostic biomarker miRNA in first-trimester maternal plasma for DS diagnosis.

TÍTULO / TITLE:   - Web-Based Training for Nurses on Using a Decision Aid to Support Shared Decision-making About Prenatal Screening: Parallel Controlled Trial

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REVISTA / JOURNAL:    - JMIR Nurs. 2022 Jan 25;5(1):e31380. doi: 10.2196/31380. Free PMC article

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AUTORES / AUTHORS: - Alex Poulin Herron, Titilayo Tatiana Agbadje, Sabrina Guay-Belanger, Gerard Ngueta, Genevieve Roch, Francois Rousseau, France Legare

INSTITUCIÓN / INSTITUTION: - VITAM - Research Center on Sustainable Health, Centre integre universitaire de sante et de services sociaux de la Capitale-Nationale, Quebec City, QC, Canada. 

RESUMEN / SUMMARY: - Background: Nurses play an important role in supporting pregnant women making decisions about prenatal screening for Down syndrome. We developed a web-based shared decision-making (SDM) training program for health professionals focusing on Down syndrome screening decisions. Objective: In this study, we aim to assess the impact of an SDM training program on nurses intention to use a decision aid with pregnant women deciding on prenatal screening for Down syndrome. Methods: In this 2-arm, parallel controlled trial, French-speaking nurses working with pregnant women in the province of Quebec were recruited by a private survey firm. They were allocated by convenience either to the intervention group (web-based SDM course that included prenatal screening) or to the control group (web-based course focusing on prenatal screening alone, with no SDM content). The primary outcome was the intention to use a decision aid. Secondary outcomes were psychosocial variables of intention, knowledge, satisfaction, acceptability, perceived usefulness, and reaction to the pedagogical approach. All outcomes were self-assessed through web-based questionnaires, including the space for written comments. We used 2-tailed Student t test and Fisher exact test to compare continuous and categorical variables between groups, respectively. Results: Of the 57 participants assessed for eligibility, 40 (70%) were allocated to the intervention (n=20) or control group (n=20) and 36 (n=18 in each) completed the courses. The mean age of the participants was 41 (SD 9) years. Most were women (39/40, 98%), White (38/40, 95%), clinical nurses (28/40, 70%), and had completed at least a bachelors degree (30/40, 75%). After the intervention, the mean score of intention was 6.3 (SD 0.8; 95% CI 5.9-6.7) for the intervention group and 6.0 (SD 1.2; 95% CI 5.42-6.64) for the control group (scale 1-7). The differences in intention and other psychosocial variable scores between the groups were not statistically signifi

TÍTULO / TITLE:   - Communicating a neonatal diagnosis of Down syndrome to parents

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REVISTA / JOURNAL:    - Arch Dis Child. 2022 Apr;107(4):409-411. doi: 10.1136/archdischild-2021-323542. Epub 2022 Feb 21.

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AUTORES / AUTHORS: - Katie Valentine, Sophie Reynolds, Dervla Donegan, Fairuz Wahida Ghazali, Danyal Khan, En Qing Lim, Mai Nur Sariah Mair Nasser, Fiona Mc Grane, Beth Corcoran, Claire Purcell, Eman Isweisi, Niamh Cath in, Edna F Roche, Judith Meehan, John Allen, Elea

INSTITUCIÓN / INSTITUTION: - Discipline of Paediatrics, Trinity College, the University of Dublin, Dublin, Ireland. 

RESUMEN / SUMMARY: -

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Prevalence of Mental Health Conditions Among 6078 Individuals With Down Syndrome in the United States

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REVISTA / JOURNAL:    - J Patient Cent Res Rev. 2022 Jan 17;9(1):58-63. doi: 10.17294/2330-0698.1875. eCollection Winter 20

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AUTORES / AUTHORS: - Anne Rivelli, Veronica Fitzpatrick, Sagar Chaudhari, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

INSTITUCIÓN / INSTITUTION: - Advocate Aurora Health, Downers Grove, IL. 

RESUMEN / SUMMARY: - Findings from a recent study of the largest documented cohort of individuals with Down syndrome (DS) in the United States described prevalence of common disease conditions and strongly suggested significant disparity in mental health conditions among these individuals as compared with age- and sex-matched individuals without DS. The retrospective, descriptive study reported herein is a follow-up to document prevalence of 58 mental health conditions across 28 years of data from 6078 individuals with DS and 30,326 age- and sex-matched controls. Patient data were abstracted from electronic medical records within a large integrated health system. In general, individuals with DS had higher prevalence of mood disorders (including depression); anxiety disorders (including obsessive-compulsive disorder); schizophrenia; psychosis (including hallucinations); pseudobulbar affect; personality disorder; dementia (including Alzheimers disease); mental disorder due to physiologic causes; conduct disorder; tic disorder; and impulse control disorder. Conversely, the DS cohort experienced lower prevalence of bipolar I disorder; generalized anxiety, panic, phobic, and posttraumatic stress disorders; substance use disorders (including alcohol, opioid, cannabis, cocaine, and nicotine disorders); and attention-deficit/hyperactivity disorder. Prevalence of many mental health conditions in the setting of DS vastly differs from comparable individuals without DS. These findings delineate a heretofore unclear jumping-off point for ongoing research.

TÍTULO / TITLE:   - Anxiety and Worries of Individuals with Down Syndrome During the COVID-19 Pandemic: A Comparative Study in the UK

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2022 Feb 1;1-16. doi: 10.1007/s10803-022-05450-0. Online ahead of print. Fr

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AUTORES / AUTHORS: - V Sideropoulos, H Kye, D Dukes, A C Samson, O Palikara, J Van Herwegen

INSTITUCIÓN / INSTITUTION: - Department of Psychology and Human Development, UCL, Institute of Education, University College London, London, UK.  

RESUMEN / SUMMARY: - The present study explored the effects of the pandemic on individuals with Down Syndrome (DS; n = 67) compared to other groups with Special Education Needs and Disabilities (SEND; n = 48) and their Typically Developing Siblings (TDS; n = 56). In total, 115 caregivers reported on their own anxiety and worries and of their children. Anxiety levels for individuals with DS appeared to be lower compared to other SEND populations and to TDS. In terms of worries, individuals with DS worried more about social-related worries but worried less about family-related aspects compared to the other groups. In sum, individuals with DS might show less anxiety but still worried more about specific aspects related to the impact of COVID-19 pandemic on their lives.

TÍTULO / TITLE:   - Anxiety and Spatial Navigation in Williams Syndrome and Down Syndrome

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REVISTA / JOURNAL:    - Dev Neuropsychol. 2022 Mar 14;1-22. doi: 10.1080/87565641.2022.2047685. Online ahead of print.

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AUTORES / AUTHORS: - Emily K Farran, Kerry D Hudson, Amelia Bennett, Aan Ameen, Iliana Misheva, Badri Bechlem, Mark Blades, Yannick Courbois

INSTITUCIÓN / INSTITUTION: - Department of Psychological Science, School of Psychology, University of Surrey, Guildford, UK. 

RESUMEN / SUMMARY: - Individuals with Down Syndrome (DS) and individuals with Williams syndrome (WS) present with poor navigation and elevated anxiety. The aim of this study was to determine the relationship between these two characteristics. Parent report questionnaires measured navigation abilities and anxiety in WS (N = 55) and DS (N = 42) as follows. Anxiety: Spence Childrens Anxiety Scale and a novel measure of navigation anxiety. Navigation: Santa Barbara Sense of Direction Scale (SBSOD) and a novel measure of navigation competence. Most individuals were not permitted to travel independently. A relationship between navigation anxiety and SBSOD scores (but not navigation competence) was observed for both groups.

TÍTULO / TITLE:   - Cognitive profiles in children and adolescents with Down syndrome

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REVISTA / JOURNAL:    - Sci Rep. 2022 Feb 4;12(1):1936. doi: 10.1038/s41598-022-05825-4. Free PMC article

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AUTORES / AUTHORS: - Sara Onnivello, Francesca Pulina, Chiara Locatelli, Chiara Marcolin, Giuseppe Ramacieri, Francesca Antonaros, Beatrice Vione, Maria Caracausi, Silvia Lanfranchi

INSTITUCIÓN / INSTITUTION: - Department of Developmental Psychology and Socialization, University of Padova, Via Venezia 8, 35131, Padova, Italy.  

RESUMEN / SUMMARY: - The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal skills and deficits in verbal processing, but high interindividual variability has been registered in the syndrome. The goal of this study was to explore the cognitive profile, considering verbal and non-verbal intelligence, of children and adolescents with DS, also taking into account interindividual variability. We particularly aimed to investigate whether this variability means that we should envisage more than one cognitive profile in this population. The correlation between cognitive profile and medical conditions, parents education levels and developmental milestones was also explored. Seventy-two children/adolescents with DS, aged 7-16 years, were assessed with the Wechsler Preschool and Primary Scale of Intelligence-III. Age-equivalent scores were adopted, and Verbal and Non-Verbal indices were obtained for each individual. The cognitive profile of the group as a whole was characterized by similar scores in the verbal and non-verbal domain. Cluster analysis revealed three different profiles, however: one group, with the lowest scores, had the typical profile associated with DS (with higher non-verbal than verbal intelligence); one, with intermediate scores, had greater verbal than non-verbal intelligence; and one, with the highest scores, fared equally well in the verbal and non-verbal domain. Three cognitive profiles emerged, suggesting that educational support for children and adolescents with DS may need to be more specific.

TÍTULO / TITLE:   - Updated profiles of everyday executive function in youth with Down syndrome using the BRIEF-2

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Jan;66(1-2):68-80. doi: 10.1111/jir.12879. Epub 2021 Sep 22.

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AUTORES / AUTHORS: - K D Csumitta, C M Stephan, R I LaQuaglia, E Miller, N R Lee

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Background: Executive function difficulties in youth with Down syndrome (DS) are well recognised using informant-report measures. However, the profile of relative challenges and strengths has not yet been evaluated using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), which includes a new internal factor structure. Method: Using the BRIEF-2, profiles of everyday parent-reported executive function (EF) were evaluated in youth with DS (n = 34) and compared with age-based and sex-based norms. EF profiles were also compared across raters (parent vs. teacher, n = 20) and relative to mental age-matched typically developing controls (ns = 19 in each group). Results: Although within-group differences were not revealed on indexes, significant differences were found among BRIEF-2 scales. Across raters, teachers reported significantly more difficulties than parents. Compared with mental age-matched typically developing controls, the DS group was rated more poorly on some but not all BRIEF-2 scales. Conclusions: At the scale, but not the index level, the BRIEF-2 identifies a variegated EF profile in children with DS. For several of the scales, significant differences were noted relative to both chronological age expectations (using norms) and mental-age expectations (using a developmentally matched comparison group). At the scale level, the BRIEF-2 continues to be a sensitive tool for identifying executive function difficulties as well as profiles of relative strengths and weaknesses in children with DS.

TÍTULO / TITLE:   - Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2022 Mar;52(3):1235-1246. doi: 10.1007/s10803-021-05016-6. Epub 2021 Apr 27.

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AUTORES / AUTHORS: - Kathryn R Bradbury, Emily I Anderberg, Lark Huang-Storms, Iulia Vasile, Rachel K Greene, Susanne W Duvall

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Psychology, Department of Pediatrics, Institute on Development and Disability, Oregon Health & Science University and Doernbecher Childrens Hospital, Portland, OR, USA.  

RESUMEN / SUMMARY: - The current study explores functioning in individuals with co-occurring Autism Spectrum Disorder and Down Syndrome (ASD+DS; n = 23), individuals with ASD and cognitive impairment (ASD+ID; n = 99) and individuals with idiopathic ID (n = 38). ANCOVA results revealed that individuals with ASD+DS showed strengths in behavioral functioning compared to individuals with ID and more similar behavioral functioning to those with ASD+ID (η2 = 0.12), with the exception of disruptive behaviors. Cognitive functioning (ɸc = 0.41) and ASD symptomatology (η2 = 0.11) were more comparable for children with ASD+DS and ASD + ID than for individuals with ID. Individuals with ASD+DS had the lowest overall adaptive skills (η2 = 0.11). Findings highlight similarities between ASD+DS and ASD+ID groups, emphasizing the importance of ASD identification within the DS population to provide access to specific interventions.

TÍTULO / TITLE:   - The use of the cambridge neuropsychological test automated battery for people born with Down syndrome and those born premature: A comparative systematic review

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REVISTA / JOURNAL:    - J Intellect Disabil. 2022 Feb 15;17446295211050460. doi: 10.1177/17446295211050460. Online ahead of

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AUTORES / AUTHORS: - Rosana M Tristao, Lucas A Scafutto Marengo, Julia Feminella Duarte da Costa, Ana Luisa Dos Santos Pires, Elvio M Boato

INSTITUCIÓN / INSTITUTION: - Faculty of Medicine and University Hospital, Medicine of the Child and Adolescent, 28127University of Brasilia, Brasilia, Brazil. 

RESUMEN / SUMMARY: - This review aimed to investigate the use of the Cambridge Neuropsychological Automated Testing Battery (CANTAB) for people at risk of cognitive impairment, especially those born with Down syndrome and those born preterm. Six databases were searched according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards, in addition to the bibliography index listed in the CANTAB site. Twenty four studies regarding Down syndrome and 17 regarding prematurity were reviewed and are here described. Both cognitive profiles were described, and their performance was compared on specific tasks and CANTAB tests. In this battery of tests, people with Down syndrome usually present impaired key cognitive domains, such as episodic memory and recognition memory. Results were presented considering general aspects described in the studies, specific findings such as dementia, the role of genetics, and cognitive profile, among other descriptions. Comparability between both populations in future studies is discussed.

TÍTULO / TITLE:   - Comparison of Attention-Deficit Hyperactivity Disorder in Typically Developing Children and Children with Down Syndrome

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REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2022 Jan 1;43(1):1-8. doi: 10.1097/DBP.0000000000000972.

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AUTORES / AUTHORS: - Anna J Esbensen, Jeffery N Epstein, Lori B Vincent, Kelly Kamimura-Nishimura, Susan Wiley, Kathleen Angkustsiri, Leonard Abbeduto, Deborah Fidler, Tanya E Froehlich

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH. 

RESUMEN / SUMMARY: - Objective: This study aimed to evaluate attention-deficit hyperactivity disorder (ADHD) symptom patterns among children with Down syndrome (DS) with or without ADHD and typically developing (TD) children with ADHD. Methods: Parents and teachers rated symptoms of inattention, hyperactivity, and general behavioral concerns for 22 children with DS and comorbid diagnoses of ADHD (DS + ADHD), 66 gender-matched and age-matched children with DS with no diagnosis of ADHD (DS - ADHD), and 66 gender-matched and age-matched TD children with ADHD (TD + ADHD). Children with DS were recruited from the community. TD children with ADHD were recruited from a specialty clinic evaluating for ADHD. Results: Parents tended to report higher scores of inattention and hyperactivity for TD children with ADHD compared with children with DS and no ADHD. Although mean ADHD symptom summary scores were not significantly different in DS + ADHD and DS - ADHD, specific parent-report items (e.g., distractibility and being "on the go") did tend to differentiate these groups. By contrast, teachers tended to report higher inattention and hyperactivity scores for DS + ADHD compared with both DS - ADHD and TD + ADHD. Specific teacher-reported items tending to differentiate DS + ADHD and DS - ADHD included difficulties following through on tasks, avoiding tasks, leaving ones seat, and excessive talking. Conclusion: Variability in response patterns between parent and teacher reports for children with and without DS highlights the need to evaluate ADHD symptoms across environments. Our findings also suggest specific items that may particularly be helpful in distinguishing children with DS who do and do not have ADHD, although replication is needed.

TÍTULO / TITLE:   - Co-occurring medical and behavioural conditions in children with Down syndrome with or without ADHD symptom presentation

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Mar;66(3):282-296. doi: 10.1111/jir.12911. Epub 2021 Dec 23.

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AUTORES / AUTHORS: - A J Esbensen, L B Vincent, J N Epstein, K Kamimura-Nishimura , S Wiley, K Angkustsiri, L Abbeduto, D Fidler, J S Anixt, T E Froehlich

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. 

RESUMEN / SUMMARY: - Background: Co-occurring attention deficit hyperactivity disorder (ADHD) is a challenge to characterise in the presence of other medical conditions commonly present in children with Down syndrome (DS). The current study examined differences among children with DS with or without ADHD symptomatology in terms of demographics, developmental level, co-occurring medical conditions, and parent and teacher ratings of behaviour and executive functioning. Methods: Parents and teachers of 108 school-age children with DS provided ratings of ADHD symptoms, behaviour problems and executive functioning skills. Children with DS and ADHD symptom presentation, as identified by a scoring algorithm, were compared with those without ADHD symptom presentation on demographic characteristics, developmental level, co-occurring medical conditions and parent-report and teacher-report measures of behaviours and executive functioning. Results: Sleep disorders, disruptive behaviour disorder, allergies and seizures were more common in children with DS and ADHD symptom presentation than in children without ADHD symptom presentation. After controlling for ADHD medication use, children with DS and ADHD symptom presentation had poorer performance than those without ADHD symptom presentation on parent behaviour ratings, teacher behaviour ratings and parent but not teacher ratings of executive functioning. No significant group differences in demographic characteristics or developmental level were identified. Conclusions: Higher rates of co-occurring medical conditions present in children with DS and ADHD symptom presentation support the need for thorough differential diagnoses. The different pattern of group differences between parent-report and teacher-report has implications for diagnostic practices across settings as well as for treatment.

TÍTULO / TITLE:   - Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Mar;188(3):818-827. doi: 10.1002/ajmg.a.62587. Epub 2021 Dec 4.

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AUTORES / AUTHORS: - Silvia Sacco, Charles Bouis, Jennifer Gallard, Aude Pichot, Elodie Blondiaux, Isabelle Marey, Nathalie Dorison, Franck Sturtz, Cecile Cieuta-Walti, Aim Ravel, Clotilde Mircher

INSTITUCIÓN / INSTITUTION: - Institut Jerome Lejeune, Paris, France. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) show delayed acquisition of cognitive and functional skills compared to typically developing children. The objective of this study was to accurately describe early development of infants and young children (children hereafter) with DS based on a large recent sample. We carried out repeated measure analysis of the global development quotient (GDQ) and developmental age using data from the Assessment of Systematic Treatment with Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children (ACTHYF) study (NCT01576705). Because there was no statistically significant difference in the primary endpoint between active treatment and placebo, data from all treatment groups were pooled for post-hoc analysis. Data of 141 children with DS aged 6-18 months at inclusion were analyzed. Mean GDQ decreased over the study period, especially in the youngest age classes ([6-9] and [9-12] months), indicating that acquisition of skills occurred at a slower pace compared to typically developing children. Strongest deficits were observed for motor and hearing and language skills. Only GDQ at baseline correlated significantly with evolution of GDQ. Future studies should aim at elucidating the mechanisms underlying motor and language development. Early pharmacological interventions together with early childhood therapies might be necessary to improve the developmental trajectory of children with DS.

TÍTULO / TITLE:   - Altered gut microbiota correlates with cognitive impairment in Chinese children with Downs syndrome

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REVISTA / JOURNAL:    - Eur Child Adolesc Psychiatry. 2022 Jan;31(1):189-202. doi: 10.1007/s00787-021-01799-2. Epub 2021 Ma

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AUTORES / AUTHORS: - Shimeng Ren, Xinjuan Wang, Jiong Qin, Qing Mu, Shuai Ye, Yang Zhang, Weidong Yu, Jingzhu Guo

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Peking University Peoples Hospital, Beijing, 100044, China. 

RESUMEN / SUMMARY: - Downs syndrome (DS), a common chromosomal disease caused by chromosome 21 trisomy, is the main cause of cognitive impairment in children worldwide. Emerging evidence suggests that the microbiota-gut-brain axis plays a potential role in cognitive impairment. However, data regarding gut microbiota alterations in DS patients remain scarce, especially data from children with DS. This case-control study was conducted to explore the gut microbiota composition in Chinese DS children. Additionally, the potential association between gut microbiota and cognitive function in DS was evaluated. Microbiota communities in the feces of 15 DS subjects and 15 matched controls were investigated using high-throughput Illumina Miseq sequencing targeting the V3-V4 region of 16S rRNA gene. The relationships between gut microbiota composition and DS cognitive function scores were analyzed. The structure and richness of the gut microbiota differed between DS patients and healthy controls. The abundance of Acidaminococcaceae was decreased in DS patients. Moreover, the Kyoto Encyclopedia of Genes and Genomes analysis showed increased modules related to peptidases and pyrimidine metabolism. Overall, we confirmed that gut microbiota alterations occurred in Chinese patients with DS. Additionally, the fecal microbiota was closely related to DS cognitive impairment. Larger cohorts are needed to confirm these findings and to clarify the mechanisms involved. Elucidating these novel findings in the field of microbiota-gut-brain axis will provide a promising strategy for future studies of DS cognitive impairment.

TÍTULO / TITLE:   - Expressed Emotion in Families of Children With and Without Autism Spectrum Disorder, Cerebral Palsy and Down Syndrome: Relations with Parenting Stress and Parenting Behaviors

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2022 Apr;52(4):1789-1806. doi: 10.1007/s10803-021-05075-9. Epub 2021 May 22.

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AUTORES / AUTHORS: - Lana E De Clercq, Peter Prinzie, Petra Warreyn, Bart Soenens, Lisa M Dieleman, Sarah S W De Pauw

INSTITUCIÓN / INSTITUTION: - Department of Special Needs Education, Ghent University, Henri Dunantlaan 1, 9000, Ghent, Belgium. 

RESUMEN / SUMMARY: - This study examined the family emotional climate as assessed by Five Minute Speech Samples and the relation with parenting stress and parenting behaviors among parents of children (6-17 years, 64.7% boys) with autism spectrum disorder, cerebral palsy, Down syndrome, and without any known disability (n = 447). The large majority of parents (79%) showed low levels of Expressed Emotion, an indicator of a positive family climate. In all groups, more Emotional Over-involvement, more Criticism and fewer expressions of Warmth were associated with higher levels of parenting stress. Across groups, Emotional Over-involvement was related to more autonomy-supportive parenting, Criticism to more psychologically controlling and overreactive parenting, and Warmth was associated with more responsive and less psychologically controlling and overreactive parenting.

TÍTULO / TITLE:   - The prevalence of Autism Spectrum Disorder in Down Syndrome children attending the Child Development Centre in Universiti Kebangsaan Malaysia Medical Centre

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REVISTA / JOURNAL:    - Med J Malaysia. 2022 Mar;77(2):137-142.

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AUTORES / AUTHORS: - M N Ashikin, K N Norazlin, I Juriza

INSTITUCIÓN / INSTITUTION: - Cyberjaya University College of Medical Sciences, Persiaran Bestari, Cyber 11, Cyberjaya, Selangor, Malaysia. 

RESUMEN / SUMMARY: - Introduction: The main objective of this study was to determine the prevalence of Autism Spectrum Disorder (ASD) in Down Syndrome (DS) children attending the DS clinic at Child Development Centre Universiti Kebangsaan Malaysia Medical Centre (CDC-UKMMC) and to assess the appropriateness of using an M-CHAT as an ASD screener in this population. We traced the karyotype results of our study population from their medical record and compared this to study participant with a dual diagnosis of Down Syndrome- Autism Spectrum Disorder (DS-ASD). Lastly, we assessed the awareness among parents attending our DS follow up clinic regarding the possibility of an ASD diagnosis in DS children. Materials and methods: This a single-centre cross-sectional study among DS children aged 18-60 months who attend the DS follow up clinic in UKMMC. Overall, 24 children were recruited to our study. The accompanying parent was given the Modified Checklist for Autism in Toddlers (M-CHAT) questionnaire and a data collection sheet prior to their consultation. The chromosomal study was traced from their medical case notes. Children that were eligible for the study had their development assessed using the tool Schedule of Growing Skills II. The diagnosis of ASD was determined by the attending paediatrician using The Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) criteria. Results: The prevalence of dual diagnoses DS-ASD in our study population was 4.2%. Using M-CHAT as a screener, 8 children failed the M-CHAT, of whom only one was diagnosed with ASD. None of the children that passed the MCHAT was diagnosed with ASD. Only 17 chromosomal study results were available for analysis, 2 children had mosaic DS whereas the remaining was caused by non-disjunction; the only DS-ASD patient had non-disjunction. Regarding parental awareness of dual diagnoses of ASD and DS, about 60% of the parents attending UKMMC clinic were aware of the possibility of ASD-DS diagnosis. Conclusions: Our results su

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Relationships between feeding problems, eating behaviours and parental feeding practices in children with Down syndrome: A cross-sectional study

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Mar;35(2):596-606. doi: 10.1111/jar.12972. Epub 2021 Dec 15.

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AUTORES / AUTHORS: - Samantha L Rogers, Bobbie Smith, Silvana E Mengoni

INSTITUCIÓN / INSTITUTION: - Centre for Research in Public Health and Community Care, University of Hertfordshire, Hatfield, UK. 

RESUMEN / SUMMARY: - Background: Research investigating feeding problems in children with Down syndrome is scarce. This study investigated feeding problems, eating behaviours and parental feeding practices in children with Down syndrome (n = 40), and typically developing (TD) children of the same age and sex (n = 40). Method: Parents of children aged 6-months to 5-years in the UK completed questionnaires assessing their childs feeding problems and eating behaviours and parental feeding practices. Results: For children with Down syndrome, feeding problems were: significantly greater than for TD children; negatively associated with breast milk duration and appetite during exclusive milk feeding; and positively associated with drinking more slowly. For both groups, feeding problems were significantly correlated with more food avoidant eating behaviours. Conclusions: This study provides new information about the relationships between feeding problems and eating behaviours in early development. Longitudinal research is needed to further investigate these relationships, so that effective support can be developed for families.

TÍTULO / TITLE:   - Age and gender-related differences in quality of life of Bangladeshi patients with Down Syndrome: A cross-sectional study

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REVISTA / JOURNAL:    - Heliyon. 2022 Jan 19;8(1):e08777. doi: 10.1016/j.heliyon.2022.e08777. eCollection 2022 Jan. Free PM

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AUTORES / AUTHORS: - Nafisa Nawal Islam, Ahmed Faisal Sumit, Md Mottakin Chowdhury, Md Asad Ullah, Yusha Araf, Bishajit Sarkar, David Gozal

INSTITUCIÓN / INSTITUTION: - Department of Biotechnology and Genetic Engineering, Jahangirnagar University, Dhaka 1342, Bangladesh. 

RESUMEN / SUMMARY: - Currently available screening instruments for evaluation of individuals with intellectual disabilities do not capture all the complications associated with Down Syndrome (DS). Here, we examined age and gender-specific variability revolving around major challenges related to ophthalmologic and auditory health, social integration, daily life, and behavioral problems in 468 (age: 2-84 years) individuals with DS living in all eight divisions of Bangladesh. More than half of the children presented with significant difficulty in walking or other targeted movements compared with 37.9% of adolescents (p = 0.03). Nearly 70% of children exhibited communication difficulties, particularly revolving around the understanding of speech, comprehending or learning tasks or new materials, and in expressing thoughts in words or behaviors (p = 0.003-0.006). Uncontrolled urination was frequent and predominantly found among children (p = 0.04). No significant differences were present in females vs. males except for concern about physical appearance (females: 58.5% vs. males: 47.5%; p = 0.02). The severity of DS was associated with intellectual performance, communication difficulties, and self-sufficiency (i.e., uncontrolled micturition or bowel movements) but not with psychotic, ophthalmologic, auditory, or motor skills-related problems. Increased awareness of DS phenotypic profiles among professionals and caregivers can foster earlier detection and counselling and help formulate appropriate interventions to reduce long-term sequelae and enhance cognitive and behavioral developmental outcomes.

TÍTULO / TITLE:   - This Is My Baby Interview: An Adaptation to the Spanish Language and Culture

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REVISTA / JOURNAL:    - Children (Basel). 2022 Feb 10;9(2):235. doi: 10.3390/children9020235. Free PMC article

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AUTORES / AUTHORS: - Elena Pinero-Pinto, Maria-Luisa Benitez-Lugo, Raquel Chillon-Martinez, Isabel Escobio-Prieto, Gema Chamorro-Moriana, Jose-Jesus Jimenez-Rejano

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, University of Seville, 41009 Seville, Spain 

RESUMEN / SUMMARY: - Evaluating the emotional state of parents is important for determining the intervention in the context of a family with a baby with Down syndrome. "This is my baby" is an interview that measures the acceptance, commitment and awareness of influence of parents towards their baby. The Spanish adaptation of this instrument helps to better understand the emotional state of parents of children with developmental disorders. A cross-cultural adaptation and reliability analysis was carried out. The results suggest that the Spanish version of the This Is My Baby interview is a reliable instrument to measure the levels of acceptance, commitment and awareness of influence of parents of an infant with Down syndrome.

TÍTULO / TITLE:   - "Thanks to my child, I discovered that I am strong and I grew up with my child": Personal growth in mothers of children with Down syndrome in Turkey

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Mar 11;124:104217. doi: 10.1016/j.ridd.2022.104217. Online ahead of print.

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AUTORES / AUTHORS: - Cagla Gokgoz, Kamile Kabukcuoglu

INSTITUCIÓN / INSTITUTION: - Akdeniz University, Institute of Social Sciences, Department of Womens Studies and Gender, Antalya, Turkey. 

RESUMEN / SUMMARY: - This study aims to examine the impact of a Down syndrome diagnosis on mothers experiences in Turkey and to understand how they construct their mothering in the context of personal growth despite the emotional and social difficulties they encounter. Grounded theory was used in this study. Data were taken from in-depth interviews with 15 mothers, and analysed using a systematic and hierarchical approach based on a constant comparative method. There also emerged three primary categories: reconstruction of mothering; factors affecting the process; and response to the changing life. The mothers explained that they experienced personal growth, such as feeling stronger, improving their ability to communicate, and becoming "closer to God". More cultural research is needed to explore the unique nature of the experiences and personal growth processes of mothers of children with Down syndrome.

TÍTULO / TITLE:   - Predictors of individual quality of life in young people with Down syndrome

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REVISTA / JOURNAL:    - Rehabil Psychol. 2022 Mar 17. doi: 10.1037/rep0000443. Online ahead of print.

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AUTORES / AUTHORS: - Lucia Moran, Laura E Gomez, Giulia Balboni, Asuncion Monsalve, Miguel ngel Verdugo, Mar Rodriguez

INSTITUCIÓN / INSTITUTION: - Down Avila, Avila (Spain) 

RESUMEN / SUMMARY: - Purpose/objective: Although the concept of quality of life (QoL) has become a reference framework for the provision of support and services to people with intellectual disability (ID), its conceptualization and application for persons with Down syndrome (DS) have received little attention. This study analyzed QoL outcomes in children and young people with DS and examined the influence of several individual and environmental variables on QoL. Research method/design: A cross-sectional study was conducted. Participants were 404 children and young people with DS aged 4 to 21 who were users of 73 organizations providing services to people with ID. The KidsLife-Down Scale was used to assess QoL-related personal outcomes perceived by professionals and relatives. Descriptive statistics were calculated. Correlation coefficients were computed and multiple regression analyses were conducted for each QoL domain and for the composite score. Results: The highest scores were obtained in material well-being, physical well-being, and rights, whereas the lowest scores were observed in self-determination and social inclusion. Multiple regression analyses showed that age, level of ID, level of support needs, degree of dependency, type of schooling, and size of organization were predicting factors of scores in QoL domains. Conclusions: This study underlines priority areas and relevant variables that must be considered when planning, implementing, and assessing supports and services to improve the QoL of children and young people with DS.

TÍTULO / TITLE:   - A proposal to activate the role of early intervention programs for the rehabilitation of mothers of children with Down syndrome, in light of the Saudi vision 2030

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REVISTA / JOURNAL:    - J Educ Health Promot. 2022 Jan 31;11:18. doi: 10.4103/jehp.jehp_468_21. eCollection 2022. Free PMC

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AUTORES / AUTHORS: - Nawal Abdulaziz, Mohamed Al Rubaie

INSTITUCIÓN / INSTITUTION: - Department of Community Service, Faculty of Social Work, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. 

RESUMEN / SUMMARY: - Background: Early intervention programs are supremacy in health, psychological, social, and sports care policies in many developed countries, considering the necessity to identify the circumstances and any support required as soon as possible. Consequently, understanding the critical role of mothers of children with Down syndrome in meeting the needs of their children is crucial, as well as developing their capacity to make positive contributions to the psychosocial harmony of their children. Hence, this study aims at determining the real role of early intervention programs in the rehabilitation of mothers of children with Down syndrome and identifying the obstacles that prevent early intervention services and programs from achieving their objective and how to treat it. Materials and methods: The descriptive-analytical approach was used. In order to achieve these objectives, an online questionnaire consisting of (88) phrases, divided into three areas, was applied to (20) mothers of children with Down syndrome. Results: The assessment study concluded several results from the mothers perspective, indicating that cognitive qualifications were highest at an average of 52.66%, followed by educational qualifications at an average of 50.73%, social qualification at an average of 48.78%, and religious qualification at an average of 48.33%. Finally, psychological qualifications were lowest at an average of 45.22%. The approval rate of all these proposals exceeded 90%. Conclusion: Based on these results, a proposal for activating early intervention programs for the rehabilitation of mothers of children with Down syndrome, in light of the Saudi Vision 2030, was set. It was also recommended to give continuous and intensive courses to mothers, in order to improve their childrens skills and self-sufficiency.

TÍTULO / TITLE:   - A Qualitative Study of the Spiritual Aspects of Parenting a Child with Down Syndrome

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REVISTA / JOURNAL:    - Healthcare (Basel). 2022 Mar 16;10(3):546. doi: 10.3390/healthcare10030546.

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AUTORES / AUTHORS: - Elysangela Dittz Duarte, Patricia P Braga, Barbara R Guimaraes, Juliana B da Silva, Silvia Caldeira

INSTITUCIÓN / INSTITUTION: - Department of Maternal Child and Public Health, School of Nursing, Federal University of Minas Gerais, Belo Horizonte 30130-100, Brazil. Center for Interdisciplinary Research in Health, Institute of Health Sciences, Catholic University of P 

RESUMEN / SUMMARY: - Parenting a child with Down syndrome can sometimes present certain difficulties and, thus, spirituality may function as a dimension related to finding meaning in life and as a coping resource. Spirituality is a critical dimension of nursing care, but scarce knowledge is available to specifically inform family nursing practice. The aim of this study was to explore the spiritual aspects of parenting a child with Down syndrome, as a qualitative secondary analysis. This is an observational qualitative study, based on in-depth interviews from 42 participants. Data analysis found seven categories that concern meaning and purpose in life: hope, family strength, spiritual practices, personal beliefs, and love, and trust in healthcare providers. Spirituality is a resource in parents lives who are living in this situation. Nurses should consider this dimension in supporting families and in improving management of this life and health condition.

TÍTULO / TITLE:   - Expressed Emotion in Families of Children With and Without Autism Spectrum Disorder, Cerebral Palsy and Down Syndrome: Relations with Parenting Stress and Parenting Behaviors

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REVISTA / JOURNAL:    - J Autism Dev Disord. 2022 Apr;52(4):1789-1806. doi: 10.1007/s10803-021-05075-9. Epub 2021 May 22.

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AUTORES / AUTHORS: - Lana E De Clercq, Peter Prinzie, Petra Warreyn, Bart Soenens, Lisa M Dieleman, Sarah S W De Pauw

INSTITUCIÓN / INSTITUTION: - Department of Special Needs Education, Ghent University, Henri Dunantlaan 1, 9000, Ghent, Belgium.  

RESUMEN / SUMMARY: - This study examined the family emotional climate as assessed by Five Minute Speech Samples and the relation with parenting stress and parenting behaviors among parents of children (6-17 years, 64.7% boys) with autism spectrum disorder, cerebral palsy, Down syndrome, and without any known disability (n = 447). The large majority of parents (79%) showed low levels of Expressed Emotion, an indicator of a positive family climate. In all groups, more Emotional Over-involvement, more Criticism and fewer expressions of Warmth were associated with higher levels of parenting stress. Across groups, Emotional Over-involvement was related to more autonomy-supportive parenting, Criticism to more psychologically controlling and overreactive parenting, and Warmth was associated with more responsive and less psychologically controlling and overreactive parenting.

TÍTULO / TITLE:   - Hospital admissions in infants with Down syndrome: a record-linked population-based cohort study in Wales

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Mar;66(3):225-239. doi: 10.1111/jir.12903. Epub 2021 Dec 3.

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AUTORES / AUTHORS: - R A Esperanza, A Evans, D Tucker, S Paranjothy, L Hurt

INSTITUCIÓN / INSTITUTION: - School of Medicine, Cardiff University, Cardiff, UK. 

RESUMEN / SUMMARY: - Background: Despite recent advances, mortality in children with Down syndrome remains five times higher than in the general population. This study aims to describe the burden, patterns and causes of hospital admissions in infants with Down syndrome, and compare this with infants without Down syndrome in a population-based cohort. Methods: This study used data from the Wales Electronic Cohort for Children, a cohort of all children born in Wales between 1990 and 2012. The cohort was generated from routine administrative data, linked to create an anonymised data set within the Secure Anonymised Information Linkage databank. This analysis is based on all infants born between January 2003 and January 2012 who were followed to their first birthday, a move out of Wales, death, or until 31 October 2012 (end of follow-up). Infants with Down syndrome were identified using the Congenital Anomaly Register and Information Service in Wales. Multivariable Cox regression was used to compare the time to first hospital admission. Admission codes were used to identify the commonest indications for hospitalisation and to determine the presence of other congenital anomalies. Results: We included 324 060 children, 356 of whom had Down syndrome. Of infants with Down syndrome, 80.3% had at least one hospital inpatient admission during the first year of life, compared with 32.9% of infants without Down syndrome. These first admissions were earlier [median of 6 days interquartile range (IQR) (3, 72) compared with 45 days [IQR 6, 166)] and longer [median of 4 days (IQR 1, 15) compared with 1 day (IQR 0, 3)] than in infants without Down syndrome. The most common causes of admissions were congenital abnormalities, respiratory diseases, conditions originating in the perinatal period and infectious diseases. The presence of other congenital abnormalities increased hospitalisations in all infants, but more so in infants with Down syndrome who spent a median of 21 days in hospital (IQR 11, 47) duri

TÍTULO / TITLE:   - Causes of death in patients with Down syndrome in 2014-2016: A population study in Japan

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Jan;188(1):224-236. doi: 10.1002/ajmg.a.62526. Epub 2021 Oct 7.

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AUTORES / AUTHORS: - Narumi Motegi, Yui Yamaoka, Akinori Moriichi, Naho Morisaki

INSTITUCIÓN / INSTITUTION: - Department of Specific Pediatric Chronic Disease Information, National Center for Child Health and Development, Tokyo, Japan. 

RESUMEN / SUMMARY: - Despite the higher mortality rates in patients with Down syndrome compared with the general Japanese population, the life span has dramatically increased in Japan and other countries. We aimed to clarify recent causes of death in patients with Down syndrome in Japan. We calculated proportionate mortality and standardized mortality odds ratios (SMORs) among all deaths registered with Down syndrome as the cause of death (ICD-10 code, Q90) in the Japanese National Death Registry Database in 2014-2016. In the study period, 762 in patients with Down syndrome died. The main causes of death were pneumonia/respiratory infections (20.5%), congenital malformations of the circulatory system (11.2%), other diseases of the circulatory system (9.2%), and aspiration pneumonia (8.4%). The SMORs (95% confidence intervals) were higher for natural death, defined as death of an elderly person with no other cause of death to be mentioned (55.73 [36.92-84.12]), early-onset Alzheimers disease, defined as Alzheimers disease with onset <65 years of age (29.36 [16.44-52.44]), aspiration pneumonia (18.33 [14.03-23.96]), pneumonia/respiratory infections (8.11 [6.76-9.73]), congenital malformations of the circulatory system (8.07 [5.98-10.88]), and leukemia/lymphoma (2.16 [1.55-2.99]) but lower for malignant solid tumors (0.04 [0.02-0.06]) in patients with Down syndrome. Patients with Down syndrome had the greatest relative risk of dying from natural death, early-onset Alzheimers disease, and respiratory illnesses, highlighting the need for appropriate medical, health, and welfare services.

TÍTULO / TITLE:   - Caregivers evaluate independence in individuals with Down syndrome

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Feb 4. doi: 10.1002/ajmg.a.62680. Online ahead of print.

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AUTORES / AUTHORS: - Stephanie L Santoro, James Hendrix, Nicole White, Priya Chandan

INSTITUCIÓN / INSTITUTION: - Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - Independence is both a sense of autonomy and self-reliance coupled with the skills to complete tasks without assistance. Questionnaire of caregivers of individuals with Down syndrome asked about factors related to independence on six topics: safety, communication, self-care, daily living, social/leisure, and vocational/employment. Responses from 408 caregivers to an independence questionnaire were received, and summarized using means and frequencies. Top goals by topic were safety from sexual abuse, communicating wants and needs, toileting independently, living independently/semi-independently, engaging in leisure time appropriately, and reading and writing. Independence is a complex, multifactorial phenomenon which varies among individuals with DS.

TÍTULO / TITLE:   - Impact of the COVID 19 pandemic on daily life, mood, and behavior of adults with Down syndrome

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REVISTA / JOURNAL:    - Disabil Health J. 2022 Feb 17;101278. doi: 10.1016/j.dhjo.2022.101278. Online ahead of print. Free

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AUTORES / AUTHORS: - Sigan L Hartley, Victoria Fleming, Brianna Piro-Gambetti, Annie Cohen, Beau M Ances, Michael A Yassa, Adam M Brickman, Benjamin L Handen, Elizabeth Head, Mark Mapstone, Bradley T Christian, Ira T Lott, Eric Doran, Shahid Zaman, Sharon Krinsky-McHale,

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, 1500 Highland Ave, Madison, WI 53706, USA; School of Human Ecology, University of Wisconsin-Madison, 1300 Linden Dr, Madison, WI 53706, USA.  

RESUMEN / SUMMARY: - Background: The Down syndrome population has been disproportionately affected by Coronavirus 2019 (COVID-19) in terms of experiencing severe illness and death. Societal efforts to curb the spread of COVID-19 may also have taken a heavy toll on the daily lives of individuals with Down syndrome. Objective/hypothesis: The goal of the study was to understand how the COVID-19 pandemic has altered daily life (including residence, employment, and participation in adult disability day programs) and influenced the mood and behavior of adults with Down syndrome. Methods: Between September 2020 and February 2021, caregivers of 171 adults with Down syndrome (aged 22-66 years) located across the United States and in the United Kingdom enrolled in the Alzheimers Biomarker Research Consortium on Down Syndrome (ABC-DS) completed a survey. Results: The residence of 17% of individuals was altered, and 89% of those who had been employed stopped working during the pandemic. One-third (33%) of individuals were reported to be more irritable or easily angered, 52% were reported to be more anxious, and 41% were reported to be more sad/depressed/unhappy relative to prepandemic. The majority of changes in mood and behavior were of modest severity. Conclusions: The COVID-19 pandemic has had widespread effects on the daily life and mood and behavior of adults with Down syndrome. In the short term, caregivers and providers should be prepared to help adults with Down syndrome with changes in daily routines, residence, employment, or adult disability day programs as society shifts away from COVID-19 safety protocols.

TÍTULO / TITLE:   - Modifiable child and caregiver factors that influence community participation among children with Down syndrome

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REVISTA / JOURNAL:    - Disabil Rehabil. 2022 Feb;44(4):600-607. doi: 10.1080/09638288.2020.1773945. Epub 2020 Jun 17.

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AUTORES / AUTHORS: - Nora Shields, Amy Epstein, Peter Jacoby, Rachel Kim, Helen Leonard, Dinah Reddihough, Andrew Whitehouse, Nada Murphy, Jenny Downs5

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Podiatry, and Prosthetics and Orthotics, La Trobe University, Melbourne, Australia. 

RESUMEN / SUMMARY: - Purpose: To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome. Methods: Cross-sectional data from a study investigating quality of life of children with intellectual disability were analysed. Participants were caregivers of 89 children with Down syndrome (54 females; 83 school attenders) (mean age 11 y 1 mo; SD 4 y 1 mo). Components of participation (attendance, involvement) were measured using the Participation and Environment Measure for Children and Youth, community module. Caregiver factors were time, mood, transport, and disability funding. Child factors were sleep, behaviour, communication, and health. Multivariate linear regression analyses examined if (i) caregiver factors were associated with attendance and (ii) child factors were associated with involvement. Results: Increased caregiver time availability was associated with higher frequency of attendance. Higher frequency of attendance was associated with greater child involvement, and having a sleep breathing disorder and less verbal communication ability was associated with less child involvement. These factors combined explained 21% of the variance. Conclusions: Children with Down syndrome who participated in the community more frequently enjoyed greater involvement. Supporting participation of children with poorer verbal communication and/or sleep breathing disorders could further the participation of children with Down syndrome.Implications for rehabilitationChildren with Down syndrome who more frequently attended opportunities for participation were more likely to be involved in those experiences.Healthcare providers and educators could foster involvement in participation opportunities of children with poorer verbal ability by supporting the development of prerequisite communication strategies.Rehabilitation programs and policies pertaining to accessibility of community activities need to align with modifiable determinants of part

TÍTULO / TITLE:   - Parenting Stress in Mothers of Children and Adolescents with Down Syndrome

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REVISTA / JOURNAL:    - J Clin Med. 2022 Feb 23;11(5):1188. doi: 10.3390/jcm11051188. Free PMC article

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AUTORES / AUTHORS: - Elisa Fuca, Floriana Costanzo, Luciana Ursumando, Stefano Vicari

INSTITUCIÓN / INSTITUTION: - Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Childrens Hospital, IRCCS, 00146 Rome, Italy. 

RESUMEN / SUMMARY: - Parenting stress has deleterious effects on parents, children, and overall family functioning. Parents of children with intellectual disability, including Down Syndrome (DS), show higher levels of parenting stress than parents of typically developing children. This research aimed to (i) evaluate parenting stress levels in a group of mothers of youths with DS using a parent-report questionnaire, (ii) identify childrens individual and clinical features associated with maternal stress, and (iii) identify specific situational life/demographics factors related to maternal stress. Seventy-eight youths with DS underwent a neuropsychological evaluation, whereas mothers completed questionnaires for the assessment of parenting stress and of the childs emotional and behavioral problems. We found that Parent-Child Difficult Interaction was the domain with the highest percentage of clinical scores (39.7%). Both internalizing and externalizing problems correlated with maternal stress, as well as autistic symptoms. The levels of maternal stress were not associated with any socio-demographic variable. After controlling for child-related correlates of maternal stress and for mothers age and education level, unemployed mothers exhibited higher levels of parental distress than employed mothers. The present study highlights that unemployment is related with parenting stress and potentially amenable to policy interventions supporting parents in combining work and family care.

TÍTULO / TITLE:   - Fifteen-minute consultation: The review of a child with trisomy 21 (Downs syndrome)

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REVISTA / JOURNAL:    - Arch Dis Child Educ Pract Ed. 2022 Apr;107(2):88-94. doi: 10.1136/archdischild-2020-319814. Epub 20

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AUTORES / AUTHORS: - Rebecca Amy Dalrymple, Laura Helen Somerville, Sherin Hamza, Nashwa Matta

INSTITUCIÓN / INSTITUTION: - Community Child Health, Specialist Childrens Services, The West Centre, Glasgow, UK  

RESUMEN / SUMMARY: - Downs syndrome (DS) is the most common chromosomal abnormality seen in live born children and it is the most common genetic cause of intellectual disability. It is associated with abnormalities in many body systems, some of which can cause life threatening complications. This article aims to cover the important aspects to cover when seeing children with DS for their routine follow-up in the neurodevelopmental or general paediatric clinic.

TÍTULO / TITLE:   - Uplifts, Respite, Stress, and Marital Quality for Parents Raising Children With Down Syndrome or Autism

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REVISTA / JOURNAL:    - Intellect Dev Disabil. 2022 Apr 1;60(2):145-162. doi: 10.1352/1934-9556-60.2.145.

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AUTORES / AUTHORS: - Jamie K Easler, Tina M Taylor, Susanne Olsen Roper, Jeremy B Yorgason, James M Harper

INSTITUCIÓN / INSTITUTION: - Jamie K. Easler, Tina M. Taylor, Susanne Olsen Roper, Jeremy B. Yorgason, and JamesM. Harper, Brigham Young University. 

RESUMEN / SUMMARY: - Direct, indirect, and partner effects estimated among uplifts, respite care, stress, and marital quality across mothers and fathers of children with autism spectrum disorder (n = 102) and Down syndrome (n = 111) were examined in this cross-sectional study. Parents of children with ASD who reported more uplifts and less stress individually reported better marital quality; these wives reported better marital quality as their husbands reported more uplifts and less stress. Wives with children with DS who reported more uplifts, individually along with their husbands reported less stress and better marital quality. Respite was directly associated with marital quality for parents of children with ASD and indirectly associated with marital quality for parents of children with DS with reduced individual stress. Implications are discussed.

TÍTULO / TITLE:   - Randomized Behavioral Sleep Clinical Trial to Improve Outcomes in Children With Down Syndrome

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2022 Mar 1;127(2):149-164. doi: 10.1352/1944-7558-127.2.149.

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AUTORES / AUTHORS: - Anna J Esbensen, Emily K Hoffman, Dean W Beebe, Kelly Byars, Adam C Carle, Jeffery N Epstein, Cynthia Johnson

INSTITUCIÓN / INSTITUTION: - University of Cincinnati and Cincinnati Childrens Hospital Medical Center 

RESUMEN / SUMMARY: - Parents of 30 school-age children with Down syndrome participated in a small-scale randomized clinical trial of a behavioral sleep treatment designed specifically for children with Down syndrome. The aim was to improve child sleep, child daytime behavior problems, caregiver sleep, and caregiver stress. The intervention spanned 5-8 weeks, and assessments occurred pre-treatment, immediately post-treatment, and three months post-treatment using a double-blinded design. Both the active treatment and a treatment-as-usual attention-controlled comparison group showed improvements in actigraphy and parent-report measures of child sleep, parent-reported child internalizing behaviors, and actigraphy measures of parent-sleep. The behavioral sleep treatment did not yield significantly different outcomes than a treatment-as-usual approach supplemented with non-sleep-specific behavioral or education sessions. Possible interpretations of study findings are discussed.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Children With Down Syndrome and Obstructive Sleep Apnea: Outcomes After Tonsillectomy

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REVISTA / JOURNAL:    - Otolaryngol Head Neck Surg. 2022 Mar;166(3):557-564. doi: 10.1177/01945998211023102. Epub 2021 Jul

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AUTORES / AUTHORS: - Claire A Abijay, Anna Tomkies, Swathi Rayasam, Romaine F Johnson, Ron B Mitchell

INSTITUCIÓN / INSTITUTION: - UT Southwestern Medical School, Dallas, Texas, USA. 

RESUMEN / SUMMARY: - Objective: To evaluate outcomes of tonsillectomy and predictors for persistent obstructive sleep apnea (OSA) in children with Down syndrome in an ethnically diverse population. Study design: Case series with chart review. Setting: UT Southwestern/Childrens Medical Center Dallas. Methods: Polysomnographic, clinical, and demographic characteristics of children with Down syndrome ages 1 to 18 years were collected, including pre- and postoperative polysomnography. Simple and multivariable regression models were used for predictors for persistent OSA. P≤ .05 was considered significant. Results: Eighty-one children were included with a mean age of 6.6 years, 44 of 81 (54%) males, and 53 of 81 (65%) Hispanic. Preoperatively, 60 of 81 (74%) patients had severe OSA. Posttonsillectomy improvements occurred for apnea-hypopnea index (27.9 to 14.0, P < .001), arousal index (25.2 to 18.8, P = .004), percent time with oxygen saturations <90% (8.8% to 3.4%, P = .003), and oxygen nadir (81.4% to 85%, P < .001). Forty-seven children (58%) had persistent OSA. Fifteen children (18.5%) had increased apnea-hypopnea index postoperatively: 2 from mild to moderate, 2 from mild to severe, and 2 from moderate to severe obstructive sleep apnea. Persistent OSA predictors were asthma (odds ratio, 4.77; 95% CI, 1.61-14.09; P = .005) and increasing age (odds ratio, 1.25; 95% CI, 1.09-1.43; P = .001). Conclusion: Children with Down syndrome are at high risk for persistent OSA after tonsillectomy with about 20% worsening after tonsillectomy. Asthma and increasing age are predictors for persistent OSA in children with Down syndrome.

TÍTULO / TITLE:   - Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?

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REVISTA / JOURNAL:    - Eur J Pediatr. 2022 Feb;181(2):735-743. doi: 10.1007/s00431-021-04267-w. Epub 2021 Sep 25. Free PMC

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AUTORES / AUTHORS: - Mina Hizal, Ozlem Satırer, Sanem Eryilmaz Polat, Dilber Ademhan Tural, Beste Ozsezen, Birce Sunman, Sevilay Karahan, Nagehan Emiralioglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Koray Boduroglu, Ebru Yalcin, Deniz Dogru, Nural Kiper, Ugur Oz

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Childrens Hospital, Sihiye, Ankara, Turkey.  

RESUMEN / SUMMARY: - The objectives are to explore the demographic and polysomnographic features of children with Down syndrome and to determine the predictive factors associated with severe sleep apnea. A total of 81 children with Down syndrome referred for full-night polysomnography were analyzed. In addition, parental interviews were performed for each child. Data were available for 81 children, with a mean age of 4.8 years. Severe obstructive sleep apnea was determined in 53.1%. Age, sex, exposure to second-hand smoke, clinical findings, anthropometric features, and the presence of comorbidities were not predictors of severe obstructive sleep apnea. Children who were exposed to second-hand smoke had more sleep-related symptoms. Even in children without symptoms, the prevalence of severe obstructive sleep apnea was 40%. Moreover, 86% of parents had no previous information regarding possible sleep breathing disorders in their children. Clinically significant central apnea was present in 10 patients (12.3%).Conclusion: Our results demonstrate that severe obstructive sleep apnea is common in children with Down syndrome, even in children without a history of symptoms of sleep apnea. It is not possible to predict patients with severe apnea; thus, screening of children with Down syndrome beginning from young ages is very important. Central apneas could be a part of the spectrum of sleep abnormalities in Down syndrome.

TÍTULO / TITLE:   - What are the Soft Tissue Risk Factors for Obstructive Sleep Apnea in Patients with Downs Syndrome?

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REVISTA / JOURNAL:    - Cleft Palate Craniofac J. 2022 Mar 2;10556656221088171. doi: 10.1177/10556656221088171. Online ahea

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AUTORES / AUTHORS: - Dani Stanbouly, Barry Steinberg, Sung-Kiang Chuang

INSTITUCIÓN / INSTITUTION: - 43802 Columbia University College of Dental Medicine, New York, NY, USA. 

RESUMEN / SUMMARY: - Objective: To determine the risk factors and their respective magnitudes for developing Obstructive Sleep Apnea (OSA) in Down syndrome (DS) patients. Design: Retrospective cohort study. Patients: The 2016 Kids Inpatient Database (KID) was queried to identify all patients diagnosed with DS. Main outcome measures: The primary predictor variables were tonsillar hypertrophy (TH), adenoidal hypertrophy (AH), Hypertrophy of Tonsils & Adenoids (HTA), Laryngeal Stenosis (LS), Hypotonia, Glossoptosis, Congenital Laryngomalacia (CL), and Overweight & Obesity (OO). The primary outcome variable was OSA. Results: The final sample consisted of 18,181 patients with a diagnosis of DS. Relative to patients aged 0-5, patients aged 6-10 (OR 3.5, P < 0.01), 11-5 (OR 3.4, P < 0.01), and 16 & above (OR 3.6, P < 0.01) were each independently associated with increased odds of OSA. Further, TH (OR 23.2, P < 0.01), AH (OR 20.3, P < 0.01), HTA (OR 64.2, P < 0.01), glossoptosis (OR 5.0, P < 0.01), CL (OR 4.3, P < 0.01), and OO (OR 3.7, P < 0.01) were all independent risk factors for OSA. Conclusions: The presence of hypertrophied tonsils and adenoids together was the strongest risk factor for OSA. DS patients aged six and above were at risk for OSA development relative to younger patients. Patients with DS should be tested for OSA, which otherwise will deteriorate their existing comorbidities.

TÍTULO / TITLE:   - Risk factors for respiratory adverse events after adenoidectomy and tonsillectomy in children with down syndrome: a retrospective cohort study

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REVISTA / JOURNAL:    - Eur J Pediatr. 2022 Mar 12. doi: 10.1007/s00431-022-04438-3. Online ahead of print.

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AUTORES / AUTHORS: - Lena Xiao, Nicholas Barrowman, Franco Momoli, Kimmo Murto, Matthew Bromwich, Sherri L Katz

INSTITUCIÓN / INSTITUTION: - Childrens Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, K1H 8L1, Canada. 

RESUMEN / SUMMARY: - Obstructive sleep apnea syndrome is a major cause of morbidity in the Down syndrome population and is commonly treated with adenoidectomy and/or tonsillectomy (AT). However, these children are at increased risk for perioperative respiratory adverse events (PRAEs). The objective of this study was to examine risk factors for major PRAEs requiring intervention in children with Down syndrome undergoing AT and to describe their postoperative monitoring environment. This retrospective study included all children with Down syndrome aged 0-18 years who underwent a preoperative polysomnogram followed by AT at a tertiary pediatric institution. Descriptive statistics were used to summarize baseline demographic and clinical characteristics. A multivariable model for prediction of PRAEs was constructed. A priori, it was decided that minimum oxygen saturation, apnea-hypopnea index, and average oxygen saturation asleep would be included, along with medical comorbidities associated with PRAEs at p < 0.2 in univariable analyses. Fifty-eight children were included in this study; twelve had a PRAE. Cardiac disease was associated with PRAEs on univariable analysis (p = 0.03). In multivariable analysis, average oxygen saturation asleep was associated with PRAEs (OR 1.50; 95% confidence interval 1.00, 2.41; p = 0.05). For all of the remaining variables, p > 0.15. Fifty-six children were admitted for monitoring overnight; four were admitted to the intensive care unit and fifty-two were admitted to the ward. Conclusions: A multivariable model found evidence that lower average oxygen saturation while asleep was associated with PRAEs requiring intervention in children with Down syndrome. This study highlights the difficulty in predicting complications in this population.What is known: Obstructive sleep apnea syndrome is a major cause of morbidity in the Down syndrome population and is commonly treated with adenoidectomy and/or tonsillectomy. However, children with Down syndrome are at inc

TÍTULO / TITLE:   - S-Adenosylmethionine May Mitigate Obstructive Sleep Apnea in an Adult with Down Syndrome: A Case Report

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REVISTA / JOURNAL:    - Nat Sci Sleep. 2022 Feb 4;14:175-178. doi: 10.2147/NSS.S350350. eCollection 2022. Free PMC article

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AUTORES / AUTHORS: - Silvano Dragonieri, Giovanna Elisiana Carpagnano, Salvatore Caccamese

INSTITUCIÓN / INSTITUTION: - Department of Respiratory Diseases, University of Bari, Bari, Italy. 

RESUMEN / SUMMARY: - Obstructive sleep apnea (OSA) is common in individuals with Down syndrome (DS). These patients are characterized by reduced levels of S-adenosylmethionine (SAMe) due to a depression of mitochondrial methylation capacity, and its implementation may improve cognitive performance. Based on the above, it is likely a beneficial effect in the treatment with SAMe also on the quality of the sleep. We report the case of an adult male with DS who received benefit of SAMe administration during OSA treatment with CPAP. We observed a significant improvement of apnea/hypopnea index (AHI), which has never been previously reported in Down individuals. AHI dropped from 51.2 to 17.2 from 0 to 49 months.

Surgery - Cirugía

TÍTULO / TITLE:   - Down syndrome and the autonomic nervous system, an educational review for the anesthesiologist

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REVISTA / JOURNAL:    - Paediatr Anaesth. 2022 Feb 13. doi: 10.1111/pan.14416. Online ahead of print.

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AUTORES / AUTHORS: - Jamie W Sinton, David S Cooper, Susan Wiley

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology, Cincinnati Childrens Hospital Medical Center, Cincinnati, Ohio, USA. 

RESUMEN / SUMMARY: - Approximately one in every 700 babies in the United States is born with Down syndrome, or 0.14%. Children with Down syndrome have cognitive impairment and congenital malformations necessitating frequent occurrences of general anesthesia and surgery. The thoughtful perioperative care of children with Down syndrome is relevant and acutely complex for the pediatric anesthesiologist. Behavior, sedation, hypotonia, upper airway obstruction, venous access, and bradycardia are omnipresent concerns apart from the surgical pathology. Down syndrome is also associated with autonomic nervous system dysfunction, a comorbidity that is overlooked in discussions of perioperative care and is described thus far in adults. Autonomic nervous system function or dysfunction may explain the phenotypical features of the perioperative challenges listed above. For this reason, understanding the development and measurement of autonomic nervous system function is important for the pediatric anesthesiologist. Definition and quantification of sympathetic and parasympathetic function will be reviewed.

TÍTULO / TITLE:   - Anaesthetic management in neurosurgery in a patient with Eisenmenger syndrome and Down syndrome. A case report

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REVISTA / JOURNAL:    - Rev Esp Anestesiol Reanim (Engl Ed). 2022 Feb;69(2):109-113. doi: 10.1016/j.redare.2020.10.014. Epu

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AUTORES / AUTHORS: - J M Gomez Tarradas, A Calvo, I Belda, T Topczewski, F J Tercero, R Valero

INSTITUCIÓN / INSTITUTION: - Servicio de Anestesiologia, Reanimacion y Tratamiento del Dolor, Hospital Clinic de Barcelona, Barcelona, Spain.  

RESUMEN / SUMMARY: - Adults patients with congenital heart disease increasingly present for non cardiac surgery. The anesthetic management this type of patients in neurosurgery requires a meticulous surgical anesthetic planning. The need for urgent intervention, with the presence of a congenital heart disease evolved to Eisenmenger syndrome, associated to a difficult airway, is a challenge for the anesthesiologist. The use of dexmedetomidine may be a valid alternative. We present the case of a patient with Down syndrome, and Eisenmenger syndrome who underwent drainage of brain abscess from the emergency department and was subsequently scheduled for reintervention. We compare the different anesthetic techniques used in both procedures, analyzing the implications they had on the main physiopathological alterations presented by the patient.

TÍTULO / TITLE:   - Kidney donor with Down syndrome: A unique case of successful kidney transplantation

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REVISTA / JOURNAL:    - Ther Apher Dial. 2022 Apr;26(2):480-481. doi: 10.1111/1744-9987.13742. Epub 2021 Oct 10.

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AUTORES / AUTHORS: - Ivana Juric, Lea Katalinic, Nikolina Basic-Jukic

INSTITUCIÓN / INSTITUTION: - Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, University Hospital Centre Zagreb, Zagreb, Croatia. 

RESUMEN / SUMMARY: - Fom a letter to Editor. After 7 months on hemodialysis, a 20 years-old patient received a kidney from a deceased donor. The donor was 24 years old female with Down syndrome with subarachnoidal bleeding. According to the donor report, there were no other concomitant abnormalities except mitral valve prolapse and chronic thyroiditis. Serum creatinine was 140 μmol/L, eGFR 45 mL/min/1.73 m2, urine sediment revealed significant bacteriuria with a trace of erythrocytes and protein, and histological analysis of preimplantation biopsy showed moderate acute tubular necrosis while glomeruli, interstitium, and blood vessels were normal. ECHO finding revealed normal morphology of both kidneys. Immunosuppressive therapy included basiliximab induction with tacrolimus, MMF, and steroid maintenance. Primary graft function was established with no complications in the early and later posttransplant period.

TÍTULO / TITLE:   - Do Children With Down Syndrome Require More Opioids During Cardiac Surgery?

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REVISTA / JOURNAL:    - J Cardiothorac Vasc Anesth. 2022 Jan;36(1):200-201. doi: 10.1053/j.jvca.2021.09.039. Epub 2021 S

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AUTORES / AUTHORS: - R C Clopton, R J Ing, J Kaufman

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology, Childrens Hospital Colorado, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Concomitant trans-sternal repair of Morgagni hernia and ventricular septal defect in a patient with Down syndrome: A case report

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REVISTA / JOURNAL:    - Int J Surg Case Rep. 2022 Mar;92:106911. doi: 10.1016/j.ijscr.2022.106911. Epub 2022 Mar 1. Free PM

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AUTORES / AUTHORS: - Ali Ateel Daifoladi, Hojat Gholipoor Talemi, Mohammad Aqeel Rezaei, Ahmad Fawad Wardak, Fawzia Negin, Sayed Hamid Mousavi

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Introduction: Morgagni hernia is a rare type of hernia occurring secondary to potential anterior-medial defects in the diaphragm. The association of the defect with congenital cardiac pathologies and Down syndrome are well known. The defect is repaired usually by trans-abdominal or transthoracic approaches. Trans-sternal repair of the hernia is preferred in patients undergoing concomitant open heart surgery. Case presentation: A 2-year-old child with Down syndrome underwent concomitant repair of Morgagni hernia and closure of his ventricular septal defect under cardiopulmonary bypass. The hernia was corrected by the sternotomy approach, without opening the hernia content, before the correction of the cardiac pathology. The patient made an uneventful recovery and was discharged on the 4th postoperative day. Discussion: Preoperative diagnosis of diaphragmatic hernia in congenital heart disease is important to decrease mortality rate. However, trans-sternal exposure of the defect is also possible, as in this case, in patients undergoing open heart surgery for congenital cardiac defects. The defect can be repaired by this approach, concomitantly with the cardiac anomaly, no need for an additional incision and without opening the hernia sac. Conclusion: Our experience, although very limited, in patients who are suffering from Morgagni hernia and concomitant congenital heart defects shows that simultaneous repair of Morgagni hernia through midline sternotomy prior to cardiac procedure is effective. As Morgagni hernia can be accompanied with many congenital cardiac anomalies, cardiac surgeons should be familiar with the trans-sternal approach to the defect.

TÍTULO / TITLE:   - Postoperative hyperthermia-induced multiple organ failure in a child with Down syndrome: a case report

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REVISTA / JOURNAL:    - J Med Case Rep. 2022 Feb 27;16(1):84. doi: 10.1186/s13256-022-03305-x. Free PMC article

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AUTORES / AUTHORS: - Keiichi Koizumi, Fuminori Numano, Tomoko Tandou, Ken Takada, Minako Hoshiai, Noboru Oyachi

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Surgery, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi, 400-8506, Japan 

RESUMEN / SUMMARY: - Background: Psychological stress has been reported to cause hyperthermia. Persistent excessive hyperthermia can, in turn, cause hypercytokinemia and organ damage. We report a case of postoperative severe hyperthermia leading to a systemic inflammatory response and multiple organ failure in a child with Down syndrome. Case presentation: A 10-month-old native Japanese boy with Down syndrome and Hirschsprungs disease is described. Newborn screening showed congenital hypothyroidism and a ventricular septal defect, but these conditions were stable upon administration of levothyroxine and furosemide. His development was equivalent to that of a child with Down syndrome. He developed a noninfectious high fever twice after preoperative preparations at age 8 months and again at 9 months. He was readmitted to hospital at age 10 months to undergo the Soave procedure to correct Hirschsprungs disease. However, he contracted a fever immediately after the surgical procedure. Hyperthermia (42 °C) was refractory to acetaminophen treatment and deteriorated to multiple organ failure due to hypercytokinemia, with increased serum levels of interleukin-6 (44.6 pg/mL) and interleukin-10 (1010 pg/mL). He died on postoperative day 2 with hypoxemia, respiratory/metabolic acidosis, increased serum levels of transaminases, reduced coagulation, and pancytopenia. Various infectious and noninfectious causes of hyperthermia could not be identified clearly by culture or blood tests. Conclusions: We speculated that the proximate cause of the fever was psychological stress, because he suffered repeated episodes of hyperthermia after the invasive procedure. Hyperthermia, together with the immune-system disorders associated with Down syndrome, may have induced hypercytokinemia and multiple organ failure. This rare case of noninfectious postoperative hyperthermia leading to multiple organ failure may help to shed further light on the currently unclear pathogenic mechanism of hyperthermia and associated m

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group

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REVISTA / JOURNAL:    - J Neurodev Disord. 2022 Mar 23;14(1):22. doi: 10.1186/s11689-022-09435-z. Free PMC article

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AUTORES / AUTHORS: - Nicole T Baumer, Mara L Becker, George T Capone, Kathleen Egan, Juan Fortea, Benjamin L Handen, Elizabeth Head, James E Hendrix, Ruth Y Litovsky, Andre Strydom, Ignacio E Tapia, Michael S Rafii

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Division of Developmental Medicine, Department of Pediatrics, Boston Childrens Hospital, Harvard Medical School, Boston, USA. 

RESUMEN / SUMMARY: - The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individuals with Down syndrome (DS). This new NIH funding mechanism offers new opportunities to expand and develop novel approaches in engaging and effectively enrolling a broader representation of clinical trials participants addressing current medical issues faced by individuals with DS. To address this opportunity, the NIH assembled leading clinicians, scientists, and representatives of advocacy groups to review existing methods and to identify those areas where new approaches are needed to engage and prepare DS populations for participation in clinical trial research. This paper summarizes the results of the Clinical Trial Readiness Working Group that was part of the INCLUDE Project Workshop: Planning a Virtual Down Syndrome Cohort Across the Lifespan Workshop held virtually September 23 and 24, 2019.

TÍTULO / TITLE:   - A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA A-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

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REVISTA / JOURNAL:    - J Neurodev Disord. 2022 Feb 5;14(1):10. doi: 10.1186/s11689-022-09418-0. Free PMC article

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AUTORES / AUTHORS: - Celia Goeldner, Priya S Kishnani, Brian G Skotko, Julian Lirio Casero, Joerg F Hipp, Michael Derks, Maria-Clemencia Hernandez, Omar Khwaja, Sian Lennon-Chrimes, Jana Noeldeke, Sabine Pellicer, Lisa Squassante, Jeannie Visootsak, Christoph Wandel, Pau

INSTITUCIÓN / INSTITUTION: - Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland 

RESUMEN / SUMMARY: - Background: There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. Negative modulation of the GABAA-α5 receptor is proposed as a mechanism to attenuate GABAergic function and restore the excitatory/inhibitory balance. Methods: Basmisanil, a selective GABAA-α5 negative allosteric modulator, was evaluated at 120 mg or 240 mg BID (80 or 160 mg for 12-13 years) in a 6-month, randomized, double-blind, placebo-controlled phase II trial (Clematis) for efficacy and safety in adolescents and young adults with Down syndrome. The primary endpoint was based on a composite analysis of working memory (Repeatable Battery for the Assessment of Neuropsychological Scale [RBANS]) and independent functioning and adaptive behavior (Vineland Adaptive Behavior Scales [VABS-II] or the Clinical Global Impression-Improvement [CGI-I]). Secondary measures included the Behavior Rating Inventory of Executive Functioning-Preschool (BRIEF-P), Clinical Evaluation of Language Fundamentals (CELF-4), and Pediatric Quality of Life Inventory (Peds-QL). EEG was conducted for safety monitoring and quantitatively analyzed in adolescents. Results: Basmisanil was safe and well-tolerated; the frequency and nature of adverse events were similar in basmisanil and placebo arms. EEG revealed treatment-related changes in spectral power (increase in low ~ 4-Hz and decrease in high ~ 20-Hz frequencies) providing evidence of functional target engagement. All treatment arms had a similar proportion of participants showing above-threshold improvement on the primary composite endpoint, evaluating concomitant responses in cognition and independent functioning (29% in placebo, 20% in low dose, and 25% in high dose). Further analysis of the individual measures contributing to the primary endpoint revealed no difference between

TÍTULO / TITLE:   - Do Children With Down Syndrome Require More Opioids During Cardiac Surgery?

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REVISTA / JOURNAL:    - J Cardiothorac Vasc Anesth. 2022 Jan;36(1):200-201. doi: 10.1053/j.jvca.2021.09.039. Epub 2021 Sep

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AUTORES / AUTHORS: - R C Clopton, R J Ing, J Kaufman

INSTITUCIÓN / INSTITUTION: - Department of Anesthesiology, Childrens Hospital Colorado, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Increased dosage and treatment time of Epigallocatechin-3-gallate (EGCG) negatively affects skeletal parameters in normal mice and Down syndrome mouse models

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REVISTA / JOURNAL:    - PLoS One. 2022 Feb 23;17(2):e0264254. doi: 10.1371/journal.pone.0264254. eCollection 2022. Free PM

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AUTORES / AUTHORS: - Raza Jamal, Jonathan LaCombe, Roshni Patel, Matthew Blackwell, Jared R Thomas, Kourtney Sloan, Joseph M Wallace, Randall J Roper

INSTITUCIÓN / INSTITUTION: - Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, Indiana, United States of America. 

RESUMEN / SUMMARY: - Bone abnormalities affect all individuals with Down syndrome (DS) and are linked to abnormal expression of DYRK1A, a gene found in three copies in people with DS and Ts65Dn DS model mice. Previous work in Ts65Dn male mice demonstrated that both genetic normalization of Dyrk1a and treatment with ~9 mg/kg/day Epigallocatechin-3-gallate (EGCG), the main polyphenol found in green tea and putative DYRK1A inhibitor, improved some skeletal deficits. Because EGCG treatment improved mostly trabecular skeletal deficits, we hypothesized that increasing EGCG treatment dosage and length of administration would positively affect both trabecular and cortical bone in Ts65Dn mice. Treatment of individuals with DS with green tea extract (GTE) containing EGCG also showed some weight loss in individuals with DS, and we hypothesized that weights would be affected in Ts65Dn mice after EGCG treatment. Treatment with ~20 mg/kg/day EGCG for seven weeks showed no improvements in male Ts65Dn trabecular bone and only limited improvements in cortical measures. Comparing skeletal analyses after ~20mg/kg/day EGCG treatment with previously published treatments with ~9, 50, and 200 mg/kg/day EGCG showed that increased dosage and treatment time increased cortical structural deficits leading to weaker appendicular bones in male mice. Weight was not affected by treatment in mice, except for those given a high dose of EGCG by oral gavage. These data indicate that high doses of EGCG, similar to those reported in some treatment studies of DS and other disorders, may impair long bone structure and strength. Skeletal phenotypes should be monitored when high doses of EGCG are administered therapeutically.

TÍTULO / TITLE:   - S-Adenosylmethionine May Mitigate Obstructive Sleep Apnea in an Adult with Down Syndrome: A Case Report

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REVISTA / JOURNAL:    - Nat Sci Sleep. 2022 Feb 4;14:175-178. doi: 10.2147/NSS.S350350. eCollection 2022. Free PMC article

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AUTORES / AUTHORS: - Silvano Dragonieri, Giovanna Elisiana Carpagnano, Salvatore Caccamese

INSTITUCIÓN / INSTITUTION: - Department of Respiratory Diseases, University of Bari, Bari, Italy. 

RESUMEN / SUMMARY: - Obstructive sleep apnea (OSA) is common in individuals with Down syndrome (DS). These patients are characterized by reduced levels of S-adenosylmethionine (SAMe) due to a depression of mitochondrial methylation capacity, and its implementation may improve cognitive performance. Based on the above, it is likely a beneficial effect in the treatment with SAMe also on the quality of the sleep. We report the case of an adult male with DS who received benefit of SAMe administration during OSA treatment with CPAP. We observed a significant improvement of apnea/hypopnea index (AHI), which has never been previously reported in Down individuals. AHI dropped from 51.2 to 17.2 from 0 to 49 months.

TÍTULO / TITLE:   - Infantile spasms in Down syndrome responsive to phenobarbital

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REVISTA / JOURNAL:    - Pediatr Int. 2022 Jan;64(1):e15070. doi: 10.1111/ped.15070.

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AUTORES / AUTHORS: - Roddie Moraes Neto, Gustavo L Franklin, Ana Chrystina De Souza Crippa

INSTITUCIÓN / INSTITUTION: - Faculdade de Medicina da Universidade Federal do Parana, Curitiba, Brazil. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors

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REVISTA / JOURNAL:    - J Med Chem. 2022 Jan 27;65(2):1396-1417. doi: 10.1021/acs.jmedchem.1c01141. Epub 2021 Dec 20

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AUTORES / AUTHORS: - Tania Tahtouh, Emilie Durieu, Benoit Villiers, Celine Bruyere, Thu Lan Nguyen5, Xavier Fant, Kwang H Ahn, Leepakshi Khurana, Emmanuel Deau, Mattias F Lindberg, Elodie Severe, Frederic Miege, Didier Roche, Emmanuelle Limanton, Jean-Martial LHelgoualch

INSTITUCIÓN / INSTITUTION: - Manros Therapeutics & Perha Pharmaceuticals, Perharidy Research Center, 29680 Roscoff, Bretagne, France. 

RESUMEN / SUMMARY: - The protein kinase DYRK1A is involved in Alzheimers disease, Down syndrome, diabetes, viral infections, and leukemia. Leucettines, a family of 2-aminoimidazolin-4-ones derived from the marine sponge alkaloid Leucettamine B, have been developed as pharmacological inhibitors of DYRKs (dual specificity, tyrosine phosphorylation regulated kinases) and CLKs (cdc2-like kinases). We report here on the synthesis and structure-activity relationship (SAR) of 68 Leucettines. Leucettines were tested on 11 purified kinases and in 5 cellular assays: (1) CLK1 pre-mRNA splicing, (2) Threonine-212-Tau phosphorylation, (3) glutamate-induced cell death, (4) autophagy and (5) antagonism of ligand-activated cannabinoid receptor CB1. The Leucettine SAR observed for DYRK1A is essentially identical for CLK1, CLK4, DYRK1B, and DYRK2. DYRK3 and CLK3 are less sensitive to Leucettines. In contrast, the cellular SAR highlights correlations between inhibition of specific kinase targets and some but not all cellular effects. Leucettines deserve further development as potential therapeutics against various diseases on the basis of their molecular targets and cellular effects.

Urinary/Renal - Urinario/Renal

TÍTULO / TITLE:   - Kidney donor with Down syndrome: A unique case of successful kidney transplantation

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REVISTA / JOURNAL:    - Ther Apher Dial. 2022 Apr;26(2):480-481. doi: 10.1111/1744-9987.13742. Epub 2021 Oct 10.

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AUTORES / AUTHORS: - Ivana Juric, Lea Katalinic, Nikolina Basic-Jukic

INSTITUCIÓN / INSTITUTION: - Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, University Hospital Centre Zagreb, Zagreb, Croatia. 

RESUMEN / SUMMARY: - Fom a letter to Editor. After 7 months on hemodialysis, a 20 years-old patient received a kidney from a deceased donor. The donor was 24 years old female with Down syndrome with subarachnoidal bleeding. According to the donor report, there were no other concomitant abnormalities except mitral valve prolapse and chronic thyroiditis. Serum creatinine was 140 μmol/L, eGFR 45 mL/min/1.73 m2, urine sediment revealed significant bacteriuria with a trace of erythrocytes and protein, and histological analysis of preimplantation biopsy showed moderate acute tubular necrosis while glomeruli, interstitium, and blood vessels were normal. ECHO finding revealed normal morphology of both kidneys. Immunosuppressive therapy included basiliximab induction with tacrolimus, MMF, and steroid maintenance. Primary graft function was established with no complications in the early and later posttransplant period.

Education - Educación

TÍTULO / TITLE:   - Cognitive profiles in children and adolescents with Down syndrome

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REVISTA / JOURNAL:    - Sci Rep. 2022 Feb 4;12(1):1936. doi: 10.1038/s41598-022-05825-4. Free PMC article

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AUTORES / AUTHORS: - Sara Onnivello, Francesca Pulina, Chiara Locatelli, Chiara Marcolin, Giuseppe Ramacieri, Francesca Antonaros, Beatrice Vione, Maria Caracausi, Silvia Lanfranchi

INSTITUCIÓN / INSTITUTION: - Department of Developmental Psychology and Socialization, University of Padova, Via Venezia 8, 35131, Padova, Italy.  

RESUMEN / SUMMARY: - The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal skills and deficits in verbal processing, but high interindividual variability has been registered in the syndrome. The goal of this study was to explore the cognitive profile, considering verbal and non-verbal intelligence, of children and adolescents with DS, also taking into account interindividual variability. We particularly aimed to investigate whether this variability means that we should envisage more than one cognitive profile in this population. The correlation between cognitive profile and medical conditions, parents education levels and developmental milestones was also explored. Seventy-two children/adolescents with DS, aged 7-16 years, were assessed with the Wechsler Preschool and Primary Scale of Intelligence-III. Age-equivalent scores were adopted, and Verbal and Non-Verbal indices were obtained for each individual. The cognitive profile of the group as a whole was characterized by similar scores in the verbal and non-verbal domain. Cluster analysis revealed three different profiles, however: one group, with the lowest scores, had the typical profile associated with DS (with higher non-verbal than verbal intelligence); one, with intermediate scores, had greater verbal than non-verbal intelligence; and one, with the highest scores, fared equally well in the verbal and non-verbal domain. Three cognitive profiles emerged, suggesting that educational support for children and adolescents with DS may need to be more specific.

TÍTULO / TITLE:   - The Use of Virtual and Computational Technologies in the Psychomotor and Cognitive Development of Children with Down Syndrome: A Systematic Literature Review

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Mar 3;19(5):2955. doi: 10.3390/ijerph19052955. Free PMC artic

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AUTORES / AUTHORS: - Elvio Boato, Geiziane Melo, Mario Filho, Eduardo Moresi, Carla Lourenco, Rosana Tristao

INSTITUCIÓN / INSTITUTION: - Department of Physical Education, Catholic University of Brasília, Brasilia 71966-700, Brazil. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) have numerous comorbidities due to trisomy 21. However, virtual reality-based therapy (VRT) has been used nowadays as a learning and visual motor tool in order to facilitate the development and learning process of this group. The aim of this article was to carry out an integrative review of the literature on the use of virtual and computational technologies in the stimulation of children with DS. A search was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) through single key words or their combinations using AND or OR operators: "Down syndrome" AND ("development" OR "cognition" OR "visomotor" OR "digital game" OR "virtual reality"). Eventually, 18 articles were included in our review. The games used in the research were able to stimulate, through the visual field, global motor skills, balance, body scheme and spatial organization, in addition to the learning of mathematical concepts, in order to directly influence the autonomous life activities, language skills, social skills and educational aspects of people with DS. Electronic games contribute to the teaching-learning relationship and stimulate neuropsychomotor and cognitive functions and development in children with DS.

TÍTULO / TITLE:   - Children with severe disabilities: adaptation, virtual education, and prospects. Experiences of three Peruvian mothers, COVID-19 context

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REVISTA / JOURNAL:    - J Med Life. 2022 Jan;15(1):43-51. doi: 10.25122/jml-2021-0330. Free PMC article

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AUTORES / AUTHORS: - Pilar Maria Gamarra Choque, Edith Gissela Rivera Arellano, Enaidy Reynosa Navarro, Juan Mendez Vergaray, Yolanda Josefina Huayta-Franco, Melissa Fatima Muante Toledo

INSTITUCIÓN / INSTITUTION: - Postgraduate School, César Vallejo University, Lima, Peru 

RESUMEN / SUMMARY: - This study aimed to reveal and investigate mothers experiences of students with severe disabilities regarding learning in distance education in Lima-Peru. This is a phenomenological study focused on understanding the world of mothers regarding the education of their children with severe disabilities. Their discourse focused on four categories: being the mother of a child with severe disability, pandemic category, virtual education, and family prospects. The participants were three mothers of children with Down Syndrome, Autism Spectrum Disorder, and Cerebral Palsy. An in-depth interview structured in 26 questions was used, applied face to face. With distance education, the mothers consider that their childrens abilities and skills have assumed a leading role, developed creativity, and employed various strategies to comply with school activities. In addition, it also strengthened their family ties despite the pandemic.

TÍTULO / TITLE:   - Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome

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REVISTA / JOURNAL:    - J Neurodev Disord. 2022 Mar 12;14(1):18. doi: 10.1186/s11689-022-09430-4. Free PMC article

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AUTORES / AUTHORS: - Emily K Schworer, Anna J Esbensen, Vivian Nguyen, Lauren Bullard, Deborah J Fidler, Lisa A Daunhauer, Carolyn B Mervis, Angela M Becerra, Leonard Abbeduto, Angela John Thurman

INSTITUCIÓN / INSTITUTION: - Division of Developmental and Behavioral Pediatrics, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - Background: There is substantial variability in adaptive skills among individuals with Down syndrome. Few studies, however, have focused on the early developmental period or on the potential sources of variability in adaptive skills. This study characterizes adaptive skills in young children with Down syndrome and investigates child characteristics associated with adaptive skills. Methods: Participants were 44 children with Down syndrome ranging in age from 2.50 to 7.99 years (M = 4.66 years, SD = 1.46). The Vineland Adaptive Behavior Scales-3 (VABS-3) Comprehensive Interview Form was used to assess adaptive behavior in the three core domains: socialization, daily living, and communication skills. Caregivers also reported on motor skills and autism spectrum disorder symptoms. Child cognitive abilities were assessed. Results: Analyses comparing mean standard score performance across the three VABS-3 core domains demonstrated significant differences between all pairs of domains, resulting in a group-level pattern of socialization > daily living > communication skills. At the individual level, 10 different patterns of relative strength and weakness were identified, with only 18% of participants evidencing significant differences between adaptive skill domain standard scores corresponding to the group-level pattern of significant differences. Child characteristics (cognitive abilities, motor skills, and autism spectrum disorder symptoms) were significantly associated with VABS-3 adaptive domain standard scores. Conclusion: These findings underscore the importance of individualizing intervention programs focused on improving the adaptive skills of young children with Down syndrome based on consideration of the childs relative adaptive strengths and weaknesses.

TÍTULO / TITLE:   - Post-High School Transition Outcomes for Young Adults With Down Syndrome

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REVISTA / JOURNAL:    - Am J Intellect Dev Disabil. 2022 Mar 1;127(2):135-148. doi: 10.1352/1944-7558-127.2.135.

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AUTORES / AUTHORS: - Susan J Loveall, Marie Moore Channell, Meghan M Burke, Derek B Rodgers

INSTITUCIÓN / INSTITUTION: - University of Nebraska-Lincoln. 

RESUMEN / SUMMARY: - There is limited available research on the post-high school outcomes of young adults with Down syndrome (DS). The purpose of this study, therefore, was to characterize employment, community-based living, and community engagement outcomes and their correlates among young adults with DS who recently transitioned out of high school. Caregivers (n = 100) of young adults with DS who exited high school within the past 5 years completed an online survey. Approximately half of the individuals with DS were working in some capacity; almost all were living with caregivers. Individuals with DS were engaging in a variety of community activities each week. Adaptive functioning was related to both employment and community engagement. Parent involvement in transition planning was also related to community engagement.

TÍTULO / TITLE:   - Dual-Task Interference in Children with Down Syndrome and Chronological and Mental Age-Matched Healthy Controls

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REVISTA / JOURNAL:    - Children (Basel). 2022 Feb 2;9(2):191. doi: 10.3390/children9020191. Free PMC article

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AUTORES / AUTHORS: - Benjamin Holfelder, Thomas Jrgen Klotzbier, Nadja Schott

INSTITUCIÓN / INSTITUTION: - Department of Sport and Exercise Science, Institute of Sport Psychology and Movement Performance, University of Stuttgart, 70174 Stuttgart, Germany. 

RESUMEN / SUMMARY: - Background: On the assumption that motor actions result from the interaction between cognitive, perceptual, and neurological mechanisms, neuromotor dysfunction-such as in children with Down Syndrome (DS)-is expected to affect the central coordination processes required for dual-task (DT) performance. There are few dual-task (DT) studies in individuals with DS, so the current study examined the effects of dual-tasking (DT) on walking performance in children with DS. Method: In this study, a motor-cognitive DT was used in 12 children with DS (10.5 ± 1.08 years, 6 female), 12 typically developed (TD) children with the same mental age (TD-MA: 5.98 ± 1.21 years, 6 female), and 12 with the same chronological age (TD-CA: 10.5 ± 1.07 years, 6 female). Children were asked to enumerate animals for one minute while walking straight ahead. Results: All groups showed lower performances under the DT condition than the single-task (ST) condition. Children with DS appear to have the most difficulties in motor and cognitive tasks and ST- and DT-conditions. Concerning the DT costs (DTC), difficulties were mainly observed with the motor task, with motor DTC being greater than cognitive DTC. Conclusion: The interplay of different systems seems to play a crucial role in walking, especially in children with DS. DT walking paradigms with directional changes are recommended for future studies, as this is more appropriate for the everyday demands of children.

TÍTULO / TITLE:   - Judicious Arrangement of Symbols on a Simulated Augmentative and Alternative Communication Display Optimizes Visual Attention by Individuals With Down Syndrome

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REVISTA / JOURNAL:    - J Speech Lang Hear Res. 2022 Feb 9;65(2):710-726. doi: 10.1044/2021_JSLHR-21-00278. Epub 2022 Jan 2

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AUTORES / AUTHORS: - Krista M Wilkinson, Rick Gilmore, Yiming Qian

INSTITUCIÓN / INSTITUTION: - The Pennsylvania State University, University Park. 

RESUMEN / SUMMARY: - Purpose: Aided augmentative and alternative communication (AAC) displays are often designed as symmetrical row-column grids, with each square in the grid containing a symbol. To maximize vocabulary on displays, symbols are often placed close to one another, and background color cuing is used to signal/differentiate symbols across different grammatical categories. However, from a visual and developmental standpoint, these display features (close-set symbols and use of background color cues) may not be optimal. In particular, placing symbols quite close together may result in visual crowding, in which individual symbols cannot be distinguished due to the presence of many neighbors, or flankers. This research sought to examine the role of display arrangement and background color cuing on the efficiency of visual attention during search. Method: Ten adolescents and adults with Down syndrome underwent a visual search task while a research-based eye tracking system recorded their patterns of visual attention. Participants searched for symbol targets on displays with varying levels of visual crowding and background color cuing. Results: Spatial arrangements that reduced visual crowding and that used the spatial organization to cue the grammatical category of symbols resulted in significantly fewer fixations to nonrelevant distracters during search and reduced the likelihood of fixations away from the target once it was located. Background color was helpful in reducing the latency to find the target. Discussion: Spatial cues may offer a powerful means to maximize the efficiency of search within AAC displays. Background color cuing may facilitate speed to locate targets in these older individuals. Implications for AAC design, as well as future avenues for maximizing (growing) vocabulary, are discussed.

TÍTULO / TITLE:   - Randomized Behavioral Sleep Clinical Trial to Improve Outcomes in Children With Down Syndrome

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REVISTA / JOURNAL:    - .Am J Intellect Dev Disabil. 2022 Mar 1;127(2):149-164. doi: 10.1352/1944-7558-127.2.149.

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AUTORES / AUTHORS: - Anna J Esbensen, Emily K Hoffman, Dean W Beebe, Kelly Byars, Adam C Carle, Jeffery N Epstein, Cynthia Johnson

INSTITUCIÓN / INSTITUTION: - University of Cincinnati and Cincinnati Childrens Hospital Medical Center. 

RESUMEN / SUMMARY: - Parents of 30 school-age children with Down syndrome participated in a small-scale randomized clinical trial of a behavioral sleep treatment designed specifically for children with Down syndrome. The aim was to improve child sleep, child daytime behavior problems, caregiver sleep, and caregiver stress. The intervention spanned 5-8 weeks, and assessments occurred pre-treatment, immediately post-treatment, and three months post-treatment using a double-blinded design. Both the active treatment and a treatment-as-usual attention-controlled comparison group showed improvements in actigraphy and parent-report measures of child sleep, parent-reported child internalizing behaviors, and actigraphy measures of parent-sleep. The behavioral sleep treatment did not yield significantly different outcomes than a treatment-as-usual approach supplemented with non-sleep-specific behavioral or education sessions. Possible interpretations of study findings are discussed.

TÍTULO / TITLE:   - Updated profiles of everyday executive function in youth with Down syndrome using the BRIEF-2

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Jan;66(1-2):68-80 doi: 10.1111/jir.12879. Epub 2021 Sep 22.

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AUTORES / AUTHORS: - K D Csumitta, C M Stephan, R I LaQuaglia, E Miller, N R Lee

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Drexel University, Philadelphia, PA, USA. 

RESUMEN / SUMMARY: - Background: Executive function difficulties in youth with Down syndrome (DS) are well recognised using informant-report measures. However, the profile of relative challenges and strengths has not yet been evaluated using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2), which includes a new internal factor structure. Method: Using the BRIEF-2, profiles of everyday parent-reported executive function (EF) were evaluated in youth with DS (n = 34) and compared with age-based and sex-based norms. EF profiles were also compared across raters (parent vs. teacher, n = 20) and relative to mental age-matched typically developing controls (ns = 19 in each group). Results: Although within-group differences were not revealed on indexes, significant differences were found among BRIEF-2 scales. Across raters, teachers reported significantly more difficulties than parents. Compared with mental age-matched typically developing controls, the DS group was rated more poorly on some but not all BRIEF-2 scales. Conclusions: At the scale, but not the index level, the BRIEF-2 identifies a variegated EF profile in children with DS. For several of the scales, significant differences were noted relative to both chronological age expectations (using norms) and mental-age expectations (using a developmentally matched comparison group). At the scale level, the BRIEF-2 continues to be a sensitive tool for identifying executive function difficulties as well as profiles of relative strengths and weaknesses in children with DS.

TÍTULO / TITLE:   - The COVID-19 pandemic: The evaluation of the emergency remote parent training program based on at-home support for children with down syndrome

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REVISTA / JOURNAL:    - Child Youth Serv Rev. 2022 Feb;133:106325. doi: 10.1016/j.childyouth.2021.106325. Epub 2021 Dec 2.

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AUTORES / AUTHORS: - S Celik, G Tomris, D M Tuna

INSTITUCIÓN / INSTITUTION: - Early Intervention/Special Education, Anadolu University, Faculty of Education, Department of Special Education, Eskisehir, Turkey. 

RESUMEN / SUMMARY: - During the COVID-19 pandemic, the development of emergency remote training programs for young children with Down syndrome, learning difficulties, and severe health problems and their parents became a requirement. The present study aimed to evaluate the impact of the "applied emergency remote training program", prepared to address the needs of parents with children with Down syndrome and to offer them at-home support. It is an evaluative case study conducted with 11 parents of 11-35 months old children with Down syndrome. The findings demonstrated that the program could be conducted in a home environment, it improved the interactional behavior of both parents and children, reduced the number of difficult routines, and was considered as an educational, instructive, and band-aid solution. Issues such as the development of systematic psycho-social support systems that increase full participation and motivation of parents in distance education programs are important during extreme times such as the pandemic. Difficulties in online data collection, the employment of coaching and counseling systems in information maintenance, individualization of the program, the improvement of the interactivity in the program, and the development of applied training programs on different topics still wait for a solution.

TÍTULO / TITLE:   - A systematic review of speech, language and communication interventions for children with Down syndrome from 0 to 6 years

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REVISTA / JOURNAL:    - Int J Lang Commun Disord. 2022 Mar;57(2):441-463. doi: 10.1111/1460-6984.12699. Epub 2022 Feb 22.

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AUTORES / AUTHORS: - Emily Seager, Sarah Sampson, Jacqueline Sin, Emma Pagnamenta, Vesna Stojanovik

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK. 

RESUMEN / SUMMARY: - Background: Speech and language acquisition can be a challenge for young children with Down syndrome (DS), and while early intervention is important, we do not know what early interventions exist and how effective they may be. Aims: To systematically review existing early speech, language and communication interventions for young children with DS from birth up to 6 years, and to investigate their effectiveness in improving speech, language and communication outcomes in children with DS. Other outcomes are changes in parental behaviour and their responsiveness METHODS & PROCEDURES: We conducted a systematic search of relevant electronic databases to identify early intervention studies targeting speech, language and communication outcomes in children with DS published up to May 2020. A total of 11 studies that met the inclusion criteria were synthesized and appraised for quality using the PEDro-P scale. There were a total of 242 children. We identified three types of intervention: communication training and responsive teaching, early stimulation programme, and dialectic-didactic approach. Main contribution: The findings from nine out of the 11 studies reported positive outcomes for childrens language and communication up to 18 months following the intervention. All nine studies reported interventions that were co-delivered by parents and clinicians. However, there was also a de-accelerated growth in requesting behaviours in the intervention group reported by one study as well as a case of no improvement for the intervention group. Three studies provided some evidence of improvements to parent outcomes, such as increased parental language input and increased responsiveness. However, there was a moderate to high risk of bias for all studies included. Conclusions: The findings from this review suggest that interventions that have high dosage, focus on language and communication training within a naturalistic setting, and are co-delivered by parents and clinicians/resear

TÍTULO / TITLE:   - A proposal to activate the role of early intervention programs for the rehabilitation of mothers of children with Down syndrome, in light of the Saudi vision 2030

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REVISTA / JOURNAL:    - J Educ Health Promot. 2022 Jan 31;11:18. doi: 10.4103/jehp.jehp_468_21. eCollection 2022. Free PMC

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AUTORES / AUTHORS: - Nawal Abdulaziz, Mohamed Al Rubaie

INSTITUCIÓN / INSTITUTION: - Department of Community Service, Faculty of Social Work, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia. 

RESUMEN / SUMMARY: - : Background: Early intervention programs are supremacy in health, psychological, social, and sports care policies in many developed countries, considering the necessity to identify the circumstances and any support required as soon as possible. Consequently, understanding the critical role of mothers of children with Down syndrome in meeting the needs of their children is crucial, as well as developing their capacity to make positive contributions to the psychosocial harmony of their children. Hence, this study aims at determining the real role of early intervention programs in the rehabilitation of mothers of children with Down syndrome and identifying the obstacles that prevent early intervention services and programs from achieving their objective and how to treat it. Materials and methods: The descriptive-analytical approach was used. In order to achieve these objectives, an online questionnaire consisting of (88) phrases, divided into three areas, was applied to (20) mothers of children with Down syndrome. Results: The assessment study concluded several results from the mothers perspective, indicating that cognitive qualifications were highest at an average of 52.66%, followed by educational qualifications at an average of 50.73%, social qualification at an average of 48.78%, and religious qualification at an average of 48.33%. Finally, psychological qualifications were lowest at an average of 45.22%. The approval rate of all these proposals exceeded 90%. Conclusion: Based on these results, a proposal for activating early intervention programs for the rehabilitation of mothers of children with Down syndrome, in light of the Saudi Vision 2030, was set. It was also recommended to give continuous and intensive courses to mothers, in order to improve their childrens skills and self-sufficiency.

TÍTULO / TITLE:   - Brain activity and upper limb movement analysis in children with Down syndrome undergoing transcranial direct current stimulation combined with virtual reality training: study protocol for a randomize

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REVISTA / JOURNAL:    - Trials. 2022 Jan 28;23(1):87. doi: 10.1186/s13063-022-06014-4. Free PMC article

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AUTORES / AUTHORS: - Jamile Benite Palma Lopes et al.

INSTITUCIÓN / INSTITUTION: - Health Sciences Program, School of Medical Sciences, Santa Casa de Sao Paulo, Sao Paulo, SP, Brazil.  

RESUMEN / SUMMARY: - Background: Children with Down syndrome have poorer functional and sensory skills compared to children with typical development. Virtual reality (VR) training could help improve these skills. Moreover, transcranial direct current stimulation (tDCS) has achieved promising results in terms of enhancing the effects of physical and sensory therapy by modulating cortical excitability. Methods/design: Two investigations are proposed: (1) an observational study with a convenience sample consisting of children with Down syndrome (group 1-cognitive age of 6 to 12 years according to the Wechsler Abbreviated Scale of Intelligence) and children with typical development 6 to 12 years of age (group 2). Both groups will undergo evaluations on a single day involving a three-dimensional analysis of upper limb movements, an analysis of muscle activity of the biceps and brachial triceps muscles and an analysis of visuospatial and cognitive-motor variables. (2) Analysis of clinical intervention: a pilot study and clinical trial will be conducted involving individuals with Down syndrome (cognitive age of 6 to 12 years according to the Wechsler Abbreviated Scale of Intelligence). The sample will be defined after conducting a pilot study with the same methodology as that to be used in the main study. The participants will be randomly allocated to two groups: An experimental group submitted to anodal tDCS combined with a VR game and a manual motor task and a control group submitted to sham tDCS combined with a VR game and a manual motor task. The training protocol will involve 10 sessions of active or sham tDCS during memory and motor task games. Three 20-min sessions will be held per week for a total of 10 sessions. Evaluations will be performed on three different occasions: pre-intervention, post-intervention (after 10 sessions) and follow-up (1 month after the intervention). Evaluations will consist of analyses of electroencephalographic signals, electromyographic signals of the biceps

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