CITAS BIBLIOGRÁFICAS
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Aging - Envejecimiento

TÍTULO / TITLE:   - Imipramine and olanzapine block apoE4-catalyzed polymerization of Aβ and show evidence of improving Alzheimer s disease cognition

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REVISTA / JOURNAL:    - Alzheimers Res Ther. 2022 Jun 29;14(1):88. doi: 10.1186/s13195-022-01020-9. Free PMC article

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AUTORES / AUTHORS: - Noah R Johnson, Athena C-J Wang, Christina Coughlan, Stefan Sillau, Esteban Lucero, Lisa Viltz, Neil Markham, Cody Allen, A Ranjitha Dhanasekaran, Heidi J Chial, Huntington Potter

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

RESUMEN / SUMMARY: - The apolipoprotein E (APOE) ε4 allele confers the strongest risk for late-onset Alzheimer s disease (AD) besides age itself, but the mechanisms underlying this risk are debated. One hypothesis supported by evidence from multiple labs is that apoE4 binds to the amyloid-β (Aβ) peptide and catalyzes its polymerization into neurotoxic oligomers and fibrils. Inhibiting this early step in the amyloid cascade may thereby reduce or prevent neurodegeneration and AD. Methods: Using a design of experiments (DOE) approach, we developed a high-throughput assay to identify inhibitors of apoE4-catalyzed polymerization of Aβ into oligomers and fibrils. We used it to screen the NIH Clinical Collection of small molecule drugs tested previously in human clinical trials. We then evaluated the efficacy and cytotoxicity of the hit compounds in primary neuron models of apoE4-induced Aβ and phosphorylated tau aggregation. Finally, we performed retrospective analyses of the National Alzheimer s Coordinating Center (NACC) clinical dataset, using Cox regression and Cox proportional hazards models to determine if the use of two FDA-approved hit compounds was associated with better cognitive scores (Mini-Mental State Exam), or improved AD clinical diagnosis, when compared with other medications of the same clinical indication. Results: Our high-throughput screen identified eight blood-brain barrier (BBB)-permeable hit compounds that reduced apoE4-catalyzed Aβ oligomer and fibril formation in a dose-dependent manner. Five hit compounds were non-toxic toward cultured neurons and also reduced apoE4-promoted Aβ and tau neuropathology in a dose-dependent manner. Three of the five compounds were determined to be specific inhibitors of apoE4, whereas the other two compounds were Aβ or tau aggregation inhibitors. When prescribed to AD patients for their normal clinical indications, two of the apoE4 inhibitors, imipramine and olanzapine, but not other (non-hit) an

TÍTULO / TITLE:   - Rodent Modeling of Alzheimer s Disease in Down Syndrome: In vivo and ex vivo Approaches

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REVISTA / JOURNAL:    - Front Neurosci. 2022 Jun 7;16:909669. doi: 10.3389/fnins.2022.909669. eCollection 2022. Free PMC ar

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AUTORES / AUTHORS: - Clona Farrel, Paige Mumford, Frances K Wiseman

INSTITUCIÓN / INSTITUTION: - UK Dementia Research Institute at University College London, London, United Kingdom. 

RESUMEN / SUMMARY: - There are an estimated 6 million people with Down syndrome (DS) worldwide. In developed countries, the vast majority of these individuals will develop Alzheimer s disease neuropathology characterized by the accumulation of amyloid-β (Aβ) plaques and tau neurofibrillary tangles within the brain, which leads to the early onset of dementia (AD-DS) and reduced life-expectancy. The mean age of onset of clinical dementia is ~55 years and by the age of 80, approaching 100% of individuals with DS will have a dementia diagnosis. DS is caused by trisomy of chromosome 21 (Hsa21) thus an additional copy of a gene(s) on the chromosome must cause the development of AD neuropathology and dementia. Indeed, triplication of the gene APP which encodes the amyloid precursor protein is sufficient and necessary for early onset AD (EOAD), both in people who have and do not have DS. However, triplication of other genes on Hsa21 leads to profound differences in neurodevelopment resulting in intellectual disability, elevated incidence of epilepsy and perturbations to the immune system. This different biology may impact on how AD neuropathology and dementia develops in people who have DS. Indeed, genes on Hsa21 other than APP when in three-copies can modulate AD-pathogenesis in mouse preclinical models. Understanding this biology better is critical to inform drug selection for AD prevention and therapy trials for people who have DS. Here we will review rodent preclinical models of AD-DS and how these can be used for both in vivo and ex vivo (cultured cells and organotypic slice cultures) studies to understand the mechanisms that contribute to the early development of AD in people who have DS and test the utility of treatments to prevent or delay the development of disease.

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

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REVISTA / JOURNAL:    - J Alzheimers Dis. 2022;87(2):595-607. doi: 10.3233/JAD-215675.

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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 amyloid-β 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:   - DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patient

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REVISTA / JOURNAL:    - Biomedicines. 2022 Jun 10;10(6):1380. doi: 10.3390/biomedicines10061380. Free PMC article

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AUTORES / AUTHORS: - Manon Moreau, Maria Carmona-Iragui, Miren Altuna, Lorraine Dalzon, Isabel Barroeta, Marie Vilaire, Sophie Durand, Juan Fortea, Anne-Sophie Rebillat, Nathalie Janel

INSTITUCIÓN / INSTITUTION: - CNRS, UMR 8251, Biologie Fonctionnelle et Adaptative (BFA), Université Paris Cité, 75013 Paris, France 

RESUMEN / SUMMARY: - Down syndrome (DS) is a complex genetic condition due to an additional copy of human chromosome 21, which results in the deregulation of many genes. In addition to the intellectual disability associated with DS, adults with DS also have an ultrahigh risk of developing early onset Alzheimer s disease dementia. DYRK1A, a proline-directed serine/threonine kinase, whose gene is located on chromosome 21, has recently emerged as a promising plasma biomarker in patients with sporadic Alzheimer s disease (AD). The protein DYRK1A is truncated in symptomatic AD, the increased truncated form being associated with a decrease in the level of full-length form. Activity-dependent neuroprotective protein (ADNP), a key protein for the brain development, has been demonstrated to be a useful marker for symptomatic AD and disease progression. In this study, we evaluated DYRK1A and ADNP in CSF and plasma of adults with DS and explored the relationship between these proteins. We used mice models to evaluate the effect of DYRK1A overexpression on ADNP levels and then performed a dual-center cross-sectional human study in adults with DS in Barcelona (Spain) and Paris (France). Both cohorts included adults with DS at different stages of the continuum of AD: asymptomatic AD (aDS), prodromal AD (pDS), and AD dementia (dDS). Non-trisomic controls and patients with sporadic AD dementia were included for comparison. Full-form levels of DYRK1A were decreased in plasma and CSF in adults with DS and symptomatic AD (pDS and dDS) compared to aDS, and in patients with sporadic AD compared to controls. On the contrary, the truncated form of DYRK1A was found to increase both in CSF and plasma in adults with DS and symptomatic AD and in patients with sporadic AD with respect to aDS and controls. ADNP levels showed a more complex structure. ADNP levels increased in aDS groups vs. controls, in agreement with the increase in levels found in the brains of mice overexpressing DYRK1A. However, symptomatic indi

TÍTULO / TITLE:   - Serum Beta-Synuclein Is Higher in Down Syndrome and Precedes Rise of pTau181

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REVISTA / JOURNAL:    - Ann Neurol. 2022 Jul;92(1):6-10. doi: 10.1002/ana.26360. Epub 2022 Apr 12.

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AUTORES / AUTHORS: - Patrick Oeckl, Olivia Wagemann, Steffen Halbgebauer, Sarah Anderl-Straub, Georg Nuebling, Catharina Prix, Sandra V Loosli, Elisabeth Wlasich, Adrian Danek, Petra Steinacker, Albert C Ludolph, Johannes Levin, Markus Otto

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Ulm University Hospital, Ulm, Germany. 

RESUMEN / SUMMARY: - This exploratory case-control study investigates the synaptic marker beta-synuclein in serum and plasma pTau181 in adults with Down syndrome (DS) with (sDS, n = 14) and without (aDS, n = 47) clinical symptoms of Alzheimer disease (AD) as well as euploid controls (n = 23). Beta-synuclein was higher in aDS and more pronounced in sDS (p < 0.0001), whereas pTau181 was only higher in sDS (p < 0.0001). Both markers showed good discriminatory power (area under the curve > 0.90) to distinguish symptomatic from asymptomatic AD. The data indicate that synaptic alterations belong to the earliest AD-associated events in DS and highlight the value of serum beta-synuclein as a potential early marker of AD.

TÍTULO / TITLE:   - Cerebral Amyloid Angiopathy-Related Inflammation in Down Syndrome-Related Alzheimer Disease

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REVISTA / JOURNAL:    - Neurology. 2022 Jun 14;98(24):1021-1022. doi: 10.1212/WNL.0000000000200704. Epub 2022 Apr 25. Free P

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AUTORES / AUTHORS: - Mateus Rozalem Aranha, Juan Fortea, Maria Carmona-Iragui

INSTITUCIÓN / INSTITUTION: - Memory Unit (M.R.A., J.F., M.C.-I.), Department of Neurology, Hospital de la Santa Creu i Sant Pau-Biomedical Research Institute Sant Pau-Universitat Autònoma de Barcelona; Fundació Catalana Síndrome de Down (J.F., M.C.-I.), Barcelona Down  

RESUMEN / SUMMARY: - A 59-year-old woman with Down syndrome (DS) and prodromal Alzheimer disease (AD) presenting progressive cognitive impairment in the previous year, with no focal symptoms, headache, seizures, or accelerated cognitive decline, underwent 3T brain MRI showing cortico-subcortical tumefactive fluid-attenuated inversion recovery (FLAIR) hyperintensities, associated with microbleeds and superficial siderosis. These FLAIR abnormalities have moved spatially compared with a previous MRI, suggesting an inflammatory process. The diagnosis of cerebral amyloid angiopathy (CAA)–related inflammation (CAA-ri) was made. DS is a genetic form of AD and has increased CAA prevalence. As future anti-amyloid trials will likely include individuals with DS, neurologists must be aware of CAA-ri in this population.

TÍTULO / TITLE:   - Type-I-interferon signaling drives microglial dysfunction and senescence in human iPSC models of Down syndrome and Alzheimer s disease

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REVISTA / JOURNAL:    - Cell Stem Cell. 2022 Jul 7;29(7):1135-1153.e8. doi: 10.1016/j.stem.2022.06.007.

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AUTORES / AUTHORS: - Mengmeng Jin, Ranjie Xu, Le Wang, Mahabub MarajAlam, Ziyuan Ma, Sining Zhu, Alessandra C Martini, Azadeh Jadali, Matteo Bernabucci, Ping Xie, Kelvin Y Kwan, Zhiping P Pang, Elizabeth Head, Ying Liu, Ronald P Hart, Peng Jiang

INSTITUCIÓN / INSTITUTION: - Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA. 

RESUMEN / SUMMARY: - Microglia are critical in brain development and Alzheimer s disease (AD) etiology. Down syndrome (DS) is the most common genetic developmental disorder and risk factor for AD. Surprisingly, little information is available on the impact of trisomy of human chromosome 21 (Hsa21) on microglial functions during DS brain development and in AD in DS. Using induced pluripotent stem cell (iPSC)-based organoid and chimeric mouse models, we report that DS microglia exhibit an enhanced synaptic pruning function, which alters neuronal synaptic functions. In response to human brain tissue-derived pathological tau, DS microglia undergo cellular senescence and exhibit elevated type-I-interferon signaling. Mechanistically, knockdown of Hsa21-encoded type I interferon receptors, IFNARs, rescues the DS microglial phenotypes both during brain development and in response to pathological tau. Our findings provide in vivo evidence that human microglia respond to pathological tau by exhibiting dystrophic phenotypes. Targeting IFNARs may improve DS microglial functions and prevent senescence.

TÍTULO / TITLE:   - Psychosocial Risk Factors for Alzheimer s Disease in Patients with Down Syndrome and Their Association with Brain Changes: A Narrative Review

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REVISTA / JOURNAL:    - Neurol Ther. 2022 Sep;11(3):931-953. doi: 10.1007/s40120-022-00361-9. Epub 2022 May 21. Free PMC ar

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AUTORES / AUTHORS: - Osama Hamadelseed, Ibrahim H Elkhidir, Thomas Skutella

INSTITUCIÓN / INSTITUTION: - Department of Neuroanatomy, Institute of Anatomy and Cell Biology, University of Heidelberg, Im Neuenheimer Feld 307, 69120, Heidelberg, Germany.  

RESUMEN / SUMMARY: - Several recent epidemiological studies attempted to identify risk factors for Alzheimer s disease. Age, family history, genetic factors (APOE genotype, trisomy 21), physical activity, and a low level of schooling are significant risk factors. In this review, we summarize the known psychosocial risk factors for the development of Alzheimer s disease in patients with Down syndrome and their association with neuroanatomical changes in the brains of people with Down syndrome. We completed a comprehensive review of the literature on PubMed, Google Scholar, and Web of Science about psychosocial risk factors for Alzheimer s disease, for Alzheimer s disease in Down syndrome, and Alzheimer s disease in Down syndrome and their association with neuroanatomical changes in the brains of people with Down syndrome. Alzheimer s disease causes early pathological changes in individuals with Down syndrome, especially in the hippocampus and corpus callosum. People with Down syndrome living with dementia showed reduced volumes of brain areas affected by Alzheimer s disease as the hippocampus and corpus callosum in association with cognitive decline. These changes occur with increasing age, and the presence or absence of psychosocial risk factors impacts the degree of cognitive function. Correlating Alzheimer s disease biomarkers in Down syndrome and cognitive function scores while considering the effect of psychosocial risk factors helps us identify the mechanisms leading to Alzheimer s disease at an early age. Also, this approach enables us to create more sensitive and relevant clinical, memory, and reasoning assessments for people with Down syndrome.

TÍTULO / TITLE:   - Developmental Neuropathology and Neurodegeneration of Down Syndrome: Current Knowledge in Humans

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REVISTA / JOURNAL:    - Front Cell Dev Biol. 2022 May 23;10:877711. doi: 10.3389/fcell.2022.877711. eCollection 2022. Free

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AUTORES / AUTHORS: - Zinnat Hasina, Nicole Wang, Chi Chiu Wang

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) suffer from developmental delay, intellectual disability, and an early-onset of neurodegeneration, Alzheimer s-like disease, or precocious dementia due to an extra chromosome 21. Studying the changes in anatomical, cellular, and molecular levels involved may help to understand the pathogenesis and develop target treatments, not just medical, but also surgical, cell and gene therapy, etc., for individuals with DS. Here we aim to identify key neurodevelopmental manifestations, locate knowledge gaps, and try to build molecular networks to better understand the mechanisms and clinical importance. We summarize current information about the neuropathology and neurodegeneration of the brain from conception to adulthood of foetuses and individuals with DS at anatomical, cellular, and molecular levels in humans. Understanding the alterations and characteristics of developing Down syndrome will help target treatment to improve the clinical outcomes. Early targeted intervention/therapy for the manifestations associated with DS in either the prenatal or postnatal period may be useful to rescue the neuropathology and neurodegeneration in DS.

TÍTULO / TITLE:   - Modified cued recall test in the French population with Down syndrome: A retrospective medical records analysis

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Jun 21. doi: 10.1111/jir.12957. Online ahead of print.

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AUTORES / AUTHORS: - S Sacco, S Falquero, C Bouis, M Akkaya, J Gallard, A Pichot, G Radice, F Bazin, F Montestruc, A Hiance-Delahaye, A-S Rebillat

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

RESUMEN / SUMMARY: - Background: Adults with Down syndrome (DS) are at increased risk of developing Alzheimer s disease (AD) due to genetic predisposition. Identification of patients with AD is difficult since intellectual disabilities (ID) may confound diagnosis. The objective of this study was to evaluate the ability of the French version of the modified cued recall test (mCRT) to distinguish between subjects with and without AD in the adult DS population. Methods: This was a retrospective, single-centre, medical records study including data between March 2014 and July 2020. Adults aged ≥30 years with DS who had at least one mCRT record available were eligible. Age, sex and ID level were extracted, and subjects were attributed to three groups: patients with AD, patients with co-occurring conditions that may impact cognitive function and subjects without AD. mCRT scores, adjusted by sex, age and ID level, were compared between groups. The optimal cut-off value to distinguish between patients with and without AD was determined using the receiver operating characteristic curve. The impact of age and ID level on mCRT scores was assessed. Results: Overall, 194 patients with DS were included: 12 patients with AD, 94 patients with co-occurring conditions and 88 healthy subjects. Total recall scores were significantly lower (P < 0.0001) in patients with AD compared with healthy subjects. The optimal cut-off value to discriminate between patients with AD and healthy subjects was 22, which compares well with the cut-off value of 23 originally reported for the English version of the mCRT. Patients aged 30-44 years had higher mCRT total recall scores compared with patients aged ≥45 years (P = 0.0221). Similarly, patients with mild ID had higher mCRT scores compared with patients with severe ID (P < 0.0001). Interpretation: The mCRT is a sensitive tool that may help in the clinical diagnosis of AD in subjects with DS. Early recognition of AD is paramount to deliver appropriate interve

Cardiology - Cardiología

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

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REVISTA / JOURNAL:    - J Pediatr. 2022 Jun;245:196-200. doi: 10.1016/j.jpeds.2022.01.034. Epub 2022 Jan 31.

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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:   - Comprehensive cardiopulmonary profile of individuals with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Jun 23. doi: 10.1111/jir.12954. Online ahead of print.

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AUTORES / AUTHORS: - V D Y Beck, S O Wee, E C Lefferts, B A Hibner, L C Burton, T Baynard, B Fernhall, T I M Hilgenkamp

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, University of Nevada - Las Vegas, Las Vegas, NV, USA. 

RESUMEN / SUMMARY: - Background: Individuals with Down syndrome (DS) have low levels of cardiorespiratory fitness and previous studies have shown that these low levels of fitness have a physiological cause. During exercise, the cardiovascular, ventilatory and muscular systems are simultaneously active. While individual parameters of these systems have been investigated in DS before, the interaction between these parameters and systems have not been discussed in detail. Doing so may provide important insight regarding the aetiology of low cardiorespiratory fitness and which parameters of the cardiovascular, pulmonary and muscular systems are altered in individuals with DS compared with their peers without DS. Methods: Cardiopulmonary exercise tests were performed in healthy adults with and without DS. Parameters related to the cardiovascular, ventilatory and muscular systems were collected until VO2peak . In total, 51 participants were included in analysis, of which 21 had DS. Results: Individuals with DS showed lower peak values for all collected outcomes (P ≤ 0.001) compared with those without DS, except for ventilatory threshold as a percentage of maximal oxygen uptake and VE /VCO2 slope, which were similar. Conclusions: Our results show that individuals with DS present impairments across the cardiovascular, ventilatory and muscular aspects of the cardiopulmonary system.

Dental - Dental

TÍTULO / TITLE:   - Identifying metabolic parameters related to severity and extent of periodontitis in down syndrome patients

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REVISTA / JOURNAL:    - J Periodontal Res. 2022 Aug;57(4):904-913. doi: 10.1111/jre.13028. Epub 2022 Jun 22.

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AUTORES / AUTHORS: - Monique Maria Melo Mouchre, Mayra Moura Franco, Leslie Alves da Silva, Kerry Alynne Campos Martins, Sueli Ismael Oliveira da Conceio, Vandilson Pinheiro Rodrigues, Bruno Braga Benatti

INSTITUCIÓN / INSTITUTION: - Dentistry Graduate Program, Federal University of Maranhao, Sao Luís, Brazil. 

RESUMEN / SUMMARY: - Background and objective: Systemic metabolic status and periodontitis can be related in patients with Down syndrome (DS). The objective of this study was to identify metabolic indicators (anthropometric measurements, blood pressure, and serum markers) related to severity and extent of periodontitis in DS patients. Methods: A cross-sectional study was conducted with 49 patients with DS. Periodontal evaluation included the periodontal probing depth (PPD), clinical attachment level (CAL), gingival bleeding index (GBI), and visible plaque index (VPI). Periodontitis severity was classified by the stages system. The extent of periodontitis was assessed as the percentage of sites with CAL ≥3 mm, CAL ≥4 mm, PPD ≥4 mm, and PPD ≥5 mm. The metabolic condition of the participants was determined by analyzing anthropometric parameters, blood pressure, and serum markers. Data were analyzed using the Mann-Whitney test, Spearman s correlation coefficient, and multivariate regression analysis. Results: Periodontitis stage 3/4 was detected in 32.7% of patients, with high values of VPI (54.6 ± 35.8) and GBI (42.4 ± 33.3). The severity of periodontitis was related to higher mean corpuscular hemoglobin (β = .291, p = .028) and mean corpuscular volume values (β = .293, p = .046). Arm circumference measurements were inversely related to CAL ≥3 mm (β = -.408, p = .023), PPD ≥4 mm (β = -.475, p = .006), and PPD ≥5 mm (β = -.443, p = .010). Conclusions: The findings suggest that the severity and extent of periodontitis may be related to some metabolic parameters in DS patients.

TÍTULO / TITLE:   - Metallothioneins in Dental Implant Treatment Failure and Periodontitis in Patients with Down s Syndrome: Validation of Results

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REVISTA / JOURNAL:    - Genes (Basel). 2022 Jun 8;13(6):1028. doi: 10.3390/genes13061028. Free PMC article

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AUTORES / AUTHORS: - Maria Baus-Dominguez, Raquel Gomez-Dia, Jose-Luis Gutierrez-Perez, Daniel Torres-Lagares, Guillermo Machuca-Portillo, Maria-Angeles Serrera-Figallo

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

RESUMEN / SUMMARY: - Metallothioneins (MTs) are low molecular weight cysteine-rich proteins that can bind up to seven zinc ions. Among their numerous functions, MTs appear to act as protectors against oxidative and inflammatory injury. In our first published study, we reported downregulation of the isoforms MT1B (fold distance (FD) -2. 95; p = 0.0024), MT1F (FD -1.72; p = 0.0276), MT1X (FD -3.09; p = 0.0021), MT1H (FD -2.39; p = 0.0018), MT1M (FD -2.37; p = 0.0092), MT1L (FD -2. 55; p = 0.0048), MT1E (FD -2.71; p = 0.0014), MT2A (FD -2.35; p = 0.0072), MT1G (FD -2.24; p = 0.0118), and MT1A (FD -2.82; p = 0.0023) by comparing Down s syndrome patients with periodontal disease and implant failure to those without periodontal disease and with a positive progression of their implants. In this gene validation study, we intended to verify the results of our first gene expression analysis. Materials and Methods: In our retrospective case-control study, we performed retrotranscription (RT-qPCR) of 11 RNA-to-cDNA samples using the SuperScript VILO kit (50; reference 1,176,605) from Thermo Fisher. We conducted the study using the real-time PCR technique on the q-PCR ViiA 7 platform from Thermo Fisher. We chose the format of the Taqman Array Plate 16 Plus (reference 4,413,261) from Thermo Fisher, which accommodates 12 genes plus four controls (GAPDH, 18S, ACTB, and HPRT1). We conducted the analysis of the plates using the Thermo Fisher Cloud Web Software. Results: The results obtained through gene validation analysis show that in PD+RI+ patients, the genes encoding the isoforms MT1F (FD 0.3; p = 0.039), MT1X (FD 338; p = 0.0078), MT1E (FD 307; p = 0.0358), and MT2A (FD 252; p = 0.0428) continue to show downregulation, whereas MT1B (FD 2.75; p = 0.580), MT1H (FD 281; p = 0.152), MT1L (FD 354; p = 0.0965), and MT1G (FD 336; p = 0.0749) no longer show statistically significant results.

TÍTULO / TITLE:   - Cross-sectional study of the factors associated with the number of teeth in middle-aged and older persons with intellectual disabilities

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Aug 5. doi: 10.1111/jir.12967. Online ahead of print.

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AUTORES / AUTHORS: - T Nonoyama, K Nonoyama, Y Shimazaki

INSTITUCIÓN / INSTITUTION: - Department of Preventive Dentistry and Dental Public Health, School of Dentistry, Aichi Gakuin University, Nagoya, Japan 

RESUMEN / SUMMARY: - Background: We investigated the number of teeth in middle-aged and older individuals with intellectual disability and evaluated the related factors. Methods: A questionnaire survey on oral health was administered to 604 persons over 40 years old with intellectual disabilities in Aichi Prefecture, Japan. The questionnaire designed for this study included items on diagnosis of disability, severity of intellectual disability and type of residence. As oral-health-related factors, the proxy-reported number of teeth, family dentist, regular dental check-ups, problems during dental treatment and tooth-brushing frequency were evaluated. A multinomial logistic regression analysis was performed using the proxy-reported number of teeth (≥20, 10-19 or 0-9) as the dependent variable, and the odds ratios (ORs) and 95% confidence intervals (CIs) of independent variables were calculated. In addition, linear regression analysis was performed using the proxy-reported number of teeth as the dependent variable. Results: In the multivariate multinomial logistic regression analysis, age, diagnosis of disability and type of residence were significantly associated with having 10-19 versus ≥20 teeth. Participants with autism spectrum disorder had a significantly lower OR for 10-19 teeth compared with those with intellectual disability [OR (95% CI): 0.49 (0.22-1.08)]. Age, diagnosis of disability, regular dental check-ups and tooth-brushing frequency were significantly associated with having 0-9 versus ≥20teeth. Participants with Down syndrome had a significantly higher OR for 0-9 teeth compared with those with intellectual disability [OR (95% CI): 3.17 (1.09-9.23)]. The ORs for 0-9 teeth of participants who attend regular dental check-ups and who brushed their teeth ≥3 times/day compared with 1 time/day were significantly high, and the OR (95% CI) was 2.37 (1.06-5.30) and 4.76 (1.09-20.77), respectively. In the multivariate linear regression analysis, age, diagnosis

Dermatology - Dermatología

TÍTULO / TITLE:   - Molecular Detection of Streptococcus downii sp. nov. from Dental Plaque Samples from Patients with Down Syndrome and Non-Syndromic Individuals

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REVISTA / JOURNAL:    - Microorganisms. 2022 May 26;10(6):1098. doi: 10.3390/microorganisms10061098. Free PMC article

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AUTORES / AUTHORS: - Eliane Garcia-Mato, Lucia Martinez-Lamas, Maximiliano Alvarez-Fernandez, Ivan Varela-Aneiros, Marcio Diniz-Freitas, Jacobo Limeres-Posse, Pedro Diz-Dios

INSTITUCIÓN / INSTITUTION: - Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15705 Santiago de Compostela, Spain 

RESUMEN / SUMMARY: - A new bacterial species has recently been identified in the dental plaque of an adolescent with Down syndrome. The species is known as Streptococcus downii sp. nov. (abbreviated to S. downii), and it inhibits the growth of S. mutans and certain periodontal pathogens. The aim of this study was to determine the distribution of S. downii in the oral cavity of individuals with Down syndrome. Methods: A specific polymerase chain reaction for the operon of bacteriocin (class IIb lactobin A/cerein 7B family) was designed to detect S. downii in individuals with Down syndrome (n = 200) and in the general population (n = 100). We also compared the whole genome of S. downii and the regions related to its bacteriocins against 127 metagenomes of supragingival plaque of the "Human Microbiome Project". Results: We detected the specific gene of the S. downii bacteriocin in an individual with Down syndrome (Cq, 34.52; GE/μL, 13.0) and in an individual of the non-syndromic control group (Cq, 34.78 Cq; GE/μL, 4.93). The prevalence of S. downii was ≤1% both in Down syndrome and in the general population, which did not allow for clinical-microbiological correlations to be established. This result was confirmed by detecting only one metagenome with an ANIm with approximately 95% homology and with 100% homology with ORFs that code class IIb lactobiocin A/cerein 7B bacteriocins among the 127 metagenomes of the "Human Microbiome Project" tested. Conclusions: The detection rate of S. downii in the supragingival dental plaque was very low, both in the Down syndrome individuals and in the non-syndromic controls. A clinical-microbiological correlation could therefore not be established.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Prevalence and surgical management of cholesteatoma in Down Syndrome children

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REVISTA / JOURNAL:    - Int J Pediatr Otorhinolaryngol. 2022 Jun;157:111126. doi: 10.1016/j.ijporl.2022.111126. Epub 2022 M

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AUTORES / AUTHORS: - Anna Poliner, Chenge Mahomva , Chelsea Williams, Kristan Alfonso, Samantha Anne, Mary Musso, Yi-Chun Carol Liu

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Objective: The objective was to report the outcomes of surgical management of cholesteatoma in Down Syndrome (DS) children and to determine the prevalence of cholesteatoma in DS children at three academic tertiary care centers. Methods: A retrospective chart review was performed of all DS children diagnosed with cholesteatoma from three tertiary care academic centers. Demographic data, comorbidities, imaging findings, surgical management, and pre- and postoperative pure tone averages were collected. Results: The prevalence of cholesteatoma in DS patients at these three institutions was calculated to be 8/802 (0.998%), 4/448 (0.893%), and 4/1016 (0.394%), with an average prevalence of 0.762%. Of the 16 patients with cholesteatoma identified, the average age of diagnosis was 10.8 years, and 5/16 (31%) had at least three sets of pressure equalizing tubes (PETs) placed. Of the 13 patients with preoperative CTs, 4/13 (30.8%) had blunting of the scutum, 4/13 (30.8%) had tegmen involvement, 1/13 (7.7%) had erosion of the semicircular canal, 2/13 had facial nerve dehiscence, and 7/13 (53.8%) had ossicular chain erosion. For surgical management, disease control was attained in 4/16 children with tympanoplasty only and canal wall up (CWU) tympanomastoidectomy in 11/16 patients. Available pre- and postoperative audiograms were evaluated; however, there was insufficient audiological data to contribute to outcomes. Conclusion: Cholesteatoma occurs in nearly 1% of DS patients, and the disease tends to be advanced with tegmen involvement in nearly a third of patients, and ossicular erosion seen in more than half the patients. A CWU procedure can be successful in managing DS patients with cholesteatoma when consistent long term follow-up is planned. Close monitoring and a high index of suspicion for cholesteatoma are essential to prevent delays in diagnosis and treatment of DS patients with a history of multiple sets of PET placement.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Mediterranean diet and physical activity in Down syndrome pediatric subjects: the DONUT STUDY

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REVISTA / JOURNAL:    - Int J Food Sci Nutr. 2022 Jul 31;1-8. doi: 10.1080/09637486.2022.2104227. Online ahead of print.

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AUTORES / AUTHORS: - Luca Pecoraro, Martina Solfa, Elena Ferron, Massimo Mirandola, Silvana Lauriola, Giorgio Piacentini, Angelo Pietrobelli

INSTITUCIÓN / INSTITUTION: - Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Pediatric Unit, University of Verona, Verona, Italy. 

RESUMEN / SUMMARY: - Introduction: Children with Down syndrome (DS) are characterised by peculiar dietary choices and approach to physical activity. The aim of this study is to quantify their adherence to the Mediterranean diet, their level of physical activity and lipid profile. Methods: Cross-sectional study, involving 61 children affected by DS. Parents of the patients were requested to complete two questionnaires, Mediterranean Diet Quality Index in children and adolescents (KIDMED) and Godin Leisure-Time Physical Activity Questionnaire (Godin). In addition, children underwent a venous sampling to check their lipid profile. Results: High scores on KIDMED and Godin were found and were associated with a reduced likelihood of being overweight or obese (0.001< p < 0.077; 0.001< p < 0.248). The level of physical activity and the probability of finding pathological HDL values in plasma were inversely related (0.001< p < 0.263). Conclusions: The DONUT study proves that KIDMED and Godin questionnaires can identify children affected by DS that can lead to develop inadequate anthropometric variables and low levels of HDL cholesterol. Moreover, the results of this study show that, despite potential difficulties in the pursuit of a correct diet and an adequate approach to physical activity, children with DS could achieve results that are substantially like those of non-DS children.

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 arti

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AUTORES / AUTHORS: - Sonia Caizares-Prado, Jorge Molina-Lpez, Mara Trinidad Moya, Elena Planells

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Faculty of Pharmacy, Institute of Nutrition and Food Technology "José Mataix", University of Granada, 18071 Granada, Spain 

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:   - Fatty Acids: A Safe Tool for Improving Neurodevelopmental Alterations in Down Syndrome?

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REVISTA / JOURNAL:    - Nutrients. 2022 Jul 13;14(14):2880. doi: 10.3390/nu14142880. Free PMC article

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AUTORES / AUTHORS: - Carmen Martnez-Cu, Renata Bartesaghi

INSTITUCIÓN / INSTITUTION: - Departamento de Fisiología y Farmacología, Facultad de Medicina, Universidad de Cantabria, 39011 Santander, Spain 

RESUMEN / SUMMARY: - The triplication of chromosome 21 causes Down syndrome (DS), a genetic disorder that is characterized by intellectual disability (ID). The causes of ID start in utero, leading to impairments in neurogenesis, and continue into infancy, leading to impairments in dendritogenesis, spinogenesis, and connectivity. These defects are associated with alterations in mitochondrial and metabolic functions and precocious aging, leading to the early development of Alzheimer s disease. Intense efforts are currently underway, taking advantage of DS mouse models to discover pharmacotherapies for the neurodevelopmental and cognitive deficits of DS. Many treatments that proved effective in mouse models may raise safety concerns over human use, especially at early life stages. Accumulating evidence shows that fatty acids, which are nutrients present in normal diets, exert numerous positive effects on the brain. Here, we review (i) the knowledge obtained from animal models regarding the effects of fatty acids on the brain, by focusing on alterations that are particularly prominent in DS, and (ii) the progress recently made in a DS mouse model, suggesting that fatty acids may indeed represent a useful treatment for DS. This scenario should prompt the scientific community to further explore the potential benefit of fatty acids for people with DS.

TÍTULO / TITLE:   - Comparing the Tongue and Lip Strength and Endurance of Children with Down Syndrome with Their Typical Peers Using IOPI

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REVISTA / JOURNAL:    - Dysphagia. 2022 Aug;37(4):966-972. doi: 10.1007/s00455-021-10359-4. Epub 2021 Aug 25.

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AUTORES / AUTHORS: - Hamid Reza Farpour, Seyed Ali Moosavi, Zhila Mohammadian, Sima Farpour

INSTITUCIÓN / INSTITUTION: - Bone and Joint Diseases Research Center, Department of Physical Medicine and Rehabilitation, Shiraz University of Medical Sciences, Shiraz, Iran. 

RESUMEN / SUMMARY: - Muscular hypotonia is a feature of Down syndrome (DS), and it affects the tongue and lips. A study on oral dysfunction in children with DS concluded that most of them did not have the tongue strength for completing the oral phase of swallowing. Recognizing the weakness of the oral muscles and improving its motor function positively affects mastication and swallowing, and prevents complications. This cross-sectional study aimed to measure the lip and tongue strength and endurance of children with DS and their typical peers, and compare these two groups with each other using Iowa Oral Performance Instrument (IOPI). Eight children with DS and 33 typical children aged 8-13 years were enrolled in this study. To examine the effect of age on the tongue strength and endurance, we divided the children into three groups of 8-9, 10-11, and 12-13 years old. The results showed that both anterior and posterior tongue strength were significantly lower in children with DS (p = 0.004 and 0.003). But, it was not the case with tongue endurance. Also, in 10-11 years old age group, the mean posterior tongue strength and in 12-13 years old age group the lip endurance was significantly lower in children with DS (p = 0.05 for both). Lips strength and endurance were both remarkably lower in children with DS (p = 0.004 and 0.02). In this study, tongue, and lip strength and endurance in both children with DS and typical ones were measured with IOPI for the first time. Moreover, it provided quantitative data on the strength and endurance of the muscles of the tongue and lips, which can contribute to future studies.

TÍTULO / TITLE:   - Analysis of Dietary Habits and Nutritional Status of Children with Down Syndrome in the Context of Lipid and Oxidative Stress Parameters

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REVISTA / JOURNAL:    - Nutrients. 2022 Jun 9;14(12):2390. doi: 10.3390/nu14122390. Free PMC article

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AUTORES / AUTHORS: - Edyta Wernio, Anna Kłosowska, Agnieszka Kuchta, Agnieszka Ćwiklińska, Kornelia Sałaga-Zaleska, Maciej Jankowski, Przemysław Kłosowski, Piotr Wiśniewski, Jolanta Wierzba, Sylwia Małgorzewicz

INSTITUCIÓN / INSTITUTION: - Department of Clinical Nutrition, Medical University of Gdansk, 80-211 Gdansk, Poland. 

RESUMEN / SUMMARY: - Introduction: The risk of obesity in children with Down syndrome is high. Undoubtedly, proper nutrition plays an important role in the prevention of excess body weight and is associated with a reduction of metabolic complications. The aim of the study was to assess the problem of disturbances in the nutritional status and eating habits of children with DS. Methods: A total of 39 patients were included in the study. The nutritional status was assessed by anthropometric tests and Dual X-ray Absorptiometry. Eating habits were assessed using the Child Eating Behavior Questionnaire and the Food Frequency Questionnaire. Blood samples were taken to determine the oxidative stress and lipid parameters. Results: Obesity was recognized in 15% of subjects and 23% were overweight. Children that were overweight were characterized by higher levels of triglycerides, atherogenic index of plasma, and apoA2 and apoE levels. Fat mass, fat mass/height2 index, and visceral fat mass correlated with thiobarbituric acid reactive substances and advanced oxidative protein product level. The analysis of the Child Eating Behavior Questionnaire showed that children struggling with being overweight were more interested in food compared to those with normal body weight. A positive correlation was identified between waist circumference and food interest categories. Insufficient consumption of dairy products, vegetables, whole grain products, as well as fruits, seeds, nuts, and fatty fish was noted. Patients were less likely to consume products that are a good source of mono- and polyunsaturated fatty acids. Conclusions: In children with Down syndrome and obesity, disturbances in lipid and oxidative stress parameters are observed. Abnormal eating habits in all children with Down syndrome regardless of their nutritional status were noted. Proper nutritional education, nutritional control, and management of metabolic problems are essential in this group of patients.

Epidemiology - Epidemiología

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 May;66(5):454-470. doi: 10.1111/jir.12926. Epub 2022 Feb 21.

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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 Alzheimer s 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.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - Hirschsprung disease in Down syndrome: An opportunity for improvement

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REVISTA / JOURNAL:    - J Pediatr Surg. 2022 Jun;57(6):1040-1044. doi: 10.1016/j.jpedsurg.2022.01.065. Epub 2022 Feb 13.

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AUTORES / AUTHORS: - Rebecca A Saberi, Gareth P Gilna, Blaire V Slavin, Carlos T Huerta, Walter A Ramsey, Christopher F O Neil 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:   - 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 arti

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AUTORES / AUTHORS: - Sonia Caizares-Prado, Jorge Molina-Lpez, Mara Trinidad Moya, Elena Planells

INSTITUCIÓN / INSTITUTION: - Department of Physiology, Faculty of Pharmacy, Institute of Nutrition and Food Technology "José Mataix", University of Granada, 18071 Granada, Spain 

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:   - Comparing the Tongue and Lip Strength and Endurance of Children with Down Syndrome with Their Typical Peers Using IOPI

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REVISTA / JOURNAL:    - Dysphagia. 2022 Aug;37(4):966-972. doi: 10.1007/s00455-021-10359-4. Epub 2021 Aug 25.

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AUTORES / AUTHORS: - Hamid Reza Farpour, Seyed Ali Moosavi, Zhila Mohammadian, Sima Farpour

INSTITUCIÓN / INSTITUTION: - Bone and Joint Diseases Research Center, Department of Physical Medicine and Rehabilitation, Shiraz University of Medical Sciences, Shiraz, Iran. 

RESUMEN / SUMMARY: - Muscular hypotonia is a feature of Down syndrome (DS), and it affects the tongue and lips. A study on oral dysfunction in children with DS concluded that most of them did not have the tongue strength for completing the oral phase of swallowing. Recognizing the weakness of the oral muscles and improving its motor function positively affects mastication and swallowing, and prevents complications. This cross-sectional study aimed to measure the lip and tongue strength and endurance of children with DS and their typical peers, and compare these two groups with each other using Iowa Oral Performance Instrument (IOPI). Eight children with DS and 33 typical children aged 8-13 years were enrolled in this study. To examine the effect of age on the tongue strength and endurance, we divided the children into three groups of 8-9, 10-11, and 12-13 years old. The results showed that both anterior and posterior tongue strength were significantly lower in children with DS (p = 0.004 and 0.003). But, it was not the case with tongue endurance. Also, in 10-11 years old age group, the mean posterior tongue strength and in 12-13 years old age group the lip endurance was significantly lower in children with DS (p = 0.05 for both). Lips strength and endurance were both remarkably lower in children with DS (p = 0.004 and 0.02). In this study, tongue, and lip strength and endurance in both children with DS and typical ones were measured with IOPI for the first time. Moreover, it provided quantitative data on the strength and endurance of the muscles of the tongue and lips, which can contribute to future studies.

Genetics - Genética

TÍTULO / TITLE:   - Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review

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REVISTA / JOURNAL:    - Cureus. 2022 Apr 28;14(4):e24561. doi: 10.7759/cureus.24561. eCollection 2022 Apr. Free PMC article

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AUTORES / AUTHORS: - Jubara Alallah, Sohaib Habhab, Farzeen Mohtisham, Aiman Shawli, Mustafa Daghistani

INSTITUCIÓN / INSTITUTION: - Pediatrics, Neonatology, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU. 

RESUMEN / SUMMARY: - Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.

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

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REVISTA / JOURNAL:    - J Pediatr. 2022 Jun;245:196-200. doi: 10.1016/j.jpeds.2022.01.034. Epub 2022 Jan 31.

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AUTORES / AUTHORS: - Shaji Thomas John, Kizhanipurath Gayathr2, 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:   - Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome

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REVISTA / JOURNAL:    - J Mother Child. 2022 Jul 20. doi: 10.34763/jmotherandchild.20222601.d-22-00002. Online ahead of pri

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AUTORES / AUTHORS: - Emir Behlul1, Nexhibe Nuhii, Thomas Liehr, Gazmend Temaj

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of Prishtina, Prishtina, Kosovo. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are at markedly increased risk for acute lymphoblastic leukaemia (ALL). DS is caused by trisomy of chromosome 21 affecting approximately 1 in 732 newborns in the USA. ALL is the most common cancer in children and constitutes approximately 25% of cancer diagnoses among children under the age of 15. Different protocols for treatment and management of paediatric ALL are available; however, DS children with ALL (DS-ALL) have increased risk of therapy-related toxicity compared to those without DS. Herein, we summarize the available literature on inherited predisposition for ALL, and possibilities for molecular therapy and treatment for DS-ALL patients.

TÍTULO / TITLE:   - Genetic mapping of APP and amyloid-β biology modulation by trisomy 21

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REVISTA / JOURNAL:    - J Neurosci. 2022 Jul 14;JN-RM-0521-22. doi: 10.1523/JNEUROSCI.0521-22.2022. Online ahead of print.

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AUTORES / AUTHORS: - Paige Mumford, Justin Tosh, Silvia Anderle, Eleni Gkanatsiou Wikberg, Gloria Lau, Sue Noy, Karen Cleverley, Takashi Saito, Takaomi C Saido, Eugene Yu, Gunnar Brinkmalm, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Victor Tybulewicz, Elizabeth M C

INSTITUCIÓN / INSTITUTION: - The UK Dementia Research Institute, University College London, Queen Square, London WC1N 3BG, UK. 

RESUMEN / SUMMARY: - : Individuals who have Down syndrome (DS) frequently develop early onset Alzheimer s disease (AD), a neurodegenerative condition caused by the build-up of aggregated amyloid-β and tau proteins in the brain. Amyloid-β is produced by amyloid precursor protein (APP), a gene located on chromosome 21. People who have Down syndrome have three copies of chromosome 21 and thus also an additional copy of APP; this genetic change drives the early development of Alzheimer s disease in these individuals. Here we use a combination of next-generation mouse models of Down syndrome (Tc1, Dp3Tyb, Dp(10)2Yey and Dp(17)3Yey) and a knockin mouse model of amyloid-β accumulation (AppNL-F ) to determine how chromosome 21 genes, other than APP, modulate APP/amyloid-β in the brain when in three copies. Using both male and female mice, we demonstrate that three copies of other chromosome 21 genes are sufficient to partially ameliorate amyloid-β accumulation in the brain. We go on to identify a subregion of chromosome 21 that contains the gene/genes causing this decrease in amyloid-β accumulation and investigate the role of two lead candidate genes Dyrk1a and Bace2 Thus an additional copy of chromosome 21 genes, other than APP, can modulate APP/amyloid-β in the brain under physiological conditions. This work provides critical mechanistic insight into the development of disease and an explanation for the typically later age of onset of dementia in people who have AD-DS, compared to those who have familial AD caused by triplication of APP. Significance Statement: Trisomy of chromosome 21 is a commonly occurring genetic risk factor for early-onset Alzheimer s disease, which has been previously attributed to people with Down syndrome having three copies of the APP gene, which is encoded on chromosome 21. However, we have shown that an extra copy of other chromosome 21 genes modifies AD-like phenotypes independently of APP copy number (Wiseman et al. 2018, Brain

Growth/Development - Crecimiento/Desarrollo

TÍTULO / TITLE:   - Differences in foot dimensions between children and adolescents with and without Down syndrome

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REVISTA / JOURNAL:    - Disabil Rehabil. 2022 Jul;44(15):3959-3966. doi: 10.1080/09638288.2021.1895897. Epub 2021 Mar 11.

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AUTORES / AUTHORS: - Nirmeen M Hassan, Andrew K Buldt, Nora Shields, Karl B Landorf, Hylton B Menz, Shannon E Munteanu

INSTITUCIÓN / INSTITUTION: - Discipline of Podiatry, School of Allied Health, Human Services and Sport, La Trobe University, Victoria, Australia. 

RESUMEN / SUMMARY: - Purpose: This study compared the differences in foot dimensions between children with and without Down syndrome using three-dimensional (3D) foot scans. Methods: 51 children with and 51 children without Down syndrome had a 3D scan taken of their right foot to compare the absolute and normalised (for height or foot length) measurements. Results: Normalised foot length was shorter in children with Down syndrome (MD -11.62 mm, 95% CI -15.06 to -8.18, p < 0.001). When normalised for foot length, ball of foot length (MD 2.87 mm, 95% CI 1.17 to 4.58, p = 0.001), diagonal and horizontal foot width (MD 3.65 mm, 95% CI 1.65 to 5.66, p < 0.001; MD 4.80 mm, 95% CI 2.88 to 6.72, p < 0.001, respectively), ball and instep girth (MD 10.60 mm, 95% CI 5.96 to 15.25, p < 0.001; MD 7.92 mm, 95% CI 3.02 to 12.82, p = 0.002, respectively) and fifth toe height (MD 3.14 mm, 95% CI 2.22 to 4.07, p < 0.001) were greater in children with Down syndrome. Conclusions: Children with Down syndrome have shorter, wider feet with greater girth and fifth toe height measurements relative to children without Down syndrome. These findings have implications for footwear fit and the manufacturing of population-specific footwear. IMPLICATIONS FOR REHABILITATION Footwear-fitting issues arise as a result of the unique foot shape of children with Down syndrome. There are substantial variations in the foot shape of children with and without Down syndrome. Children with Down syndrome require wider, deeper footwear at a given length to accommodate their foot dimensions. These findings have implications for the manufacturing of population-specific footwear.

TÍTULO / TITLE:   - Comparing the Tongue and Lip Strength and Endurance of Children with Down Syndrome with Their Typical Peers Using IOPI

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REVISTA / JOURNAL:    - Dysphagia. 2022 Aug;37(4):966-972. doi: 10.1007/s00455-021-10359-4. Epub 2021 Aug 25.

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AUTORES / AUTHORS: - Hamid Reza Farpour, Seyed Ali Moosavi, Zhila Mohammadian, Sima Farpour

INSTITUCIÓN / INSTITUTION: - Bone and Joint Diseases Research Center, Department of Physical Medicine and Rehabilitation, Shiraz University of Medical Sciences, Shiraz, Iran. 

RESUMEN / SUMMARY: - Muscular hypotonia is a feature of Down syndrome (DS), and it affects the tongue and lips. A study on oral dysfunction in children with DS concluded that most of them did not have the tongue strength for completing the oral phase of swallowing. Recognizing the weakness of the oral muscles and improving its motor function positively affects mastication and swallowing, and prevents complications. This cross-sectional study aimed to measure the lip and tongue strength and endurance of children with DS and their typical peers, and compare these two groups with each other using Iowa Oral Performance Instrument (IOPI). Eight children with DS and 33 typical children aged 8-13 years were enrolled in this study. To examine the effect of age on the tongue strength and endurance, we divided the children into three groups of 8-9, 10-11, and 12-13 years old. The results showed that both anterior and posterior tongue strength were significantly lower in children with DS (p = 0.004 and 0.003). But, it was not the case with tongue endurance. Also, in 10-11 years old age group, the mean posterior tongue strength and in 12-13 years old age group the lip endurance was significantly lower in children with DS (p = 0.05 for both). Lips strength and endurance were both remarkably lower in children with DS (p = 0.004 and 0.02). In this study, tongue, and lip strength and endurance in both children with DS and typical ones were measured with IOPI for the first time. Moreover, it provided quantitative data on the strength and endurance of the muscles of the tongue and lips, which can contribute to future studies.

Gynecology - Ginecología

TÍTULO / TITLE:   - Reproductive and pregnancy health care for women with intellectual and developmental disabilities: A scoping review

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 May;35(3):655-674. doi: 10.1111/jar.12977. Epub 2022 Jan 22.

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AUTORES / AUTHORS: - Jade I Ransohoff, Prisha Sujin Kumar, David Flynn, Eric Rubenstein

INSTITUCIÓN / INSTITUTION: - School of Public Health, Boston University, Boston, Massachusetts, USA. 

RESUMEN / SUMMARY: - : Background: Women with intellectual and developmental disabilities face poorer reproductive and pregnancy outcomes partially due to health care inequity. Our objective was to conduct a scoping review of reproductive and pregnancy related health care among women with intellectual and developmental disabilities. Methods: We systematically reviewed three databases for keywords pertaining to pregnancy, reproductive health, and intellectual and developmental disabilities. Two reviewers screened abstracts and extracted full text. We synthesised included papers, identifying common themes. Results: Thirty-six papers met review criteria. Women with intellectual and developmental disabilities had lower fertility rates and were less likely to receive adequate sexual education compared to peers. While most women received prenatal care, uptake was lower and received later than women without intellectual and developmental disabilities. Conclusions: Pregnancy-related health care is often lacking for women with intellectual and developmental disabilities. There are gaps inhibiting our understanding which prevents action to reduce health disparities.

TÍTULO / TITLE:   - Involvement of the HERV-derived cell-fusion inhibitor, suppressyn, in the fusion defects characteristic of the trisomy 21 placenta

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REVISTA / JOURNAL:    - Sci Rep. 2022 Jun 22;12(1):10552. doi: 10.1038/s41598-022-14104-1. Free PMC article

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AUTORES / AUTHORS: - Jun Sugimoto, Danny J Schust, Tomomi Yamazaki , Yoshiki Kudo

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Hiroshima University, Hiroshima, Japan.  

RESUMEN / SUMMARY: - Suppressyn (SUPYN) is the first host-cell encoded mammalian protein shown to inhibit cell-cell fusion. Its expression is restricted to the placenta, where it negatively regulates syncytia formation in villi. Since its chromosomal localization overlaps with the Down syndrome critical region and the TS21 placenta is characterized by delayed maturation of cytotrophoblast cells and reduced syncytialization, we hypothesized a potential link between changes in SUPYN expression and morphologic abnormalities in the TS21 placenta. Here we demonstrate that an increase in chromosomal copy number in the TS21 placenta is associated with: (1) reduced fusion of cytotrophoblast cells into syncytiotrophoblast in vivo, (2) increased SUPYN transcription, translation and secretion in vivo, (3) increased SUPYN/syncytin-1 receptor degradation in vivo, (4) increased SUPYN transcription and secretion ex vivo, (5) decreased cytotrophoblast cell fusion ex vivo, and (6) reciprocal response of changes in SUPYN and CGB in TS21 placental cells ex vivo. These data suggest direct links between immature placentation in Down syndrome and increased SUPYN. Finally, we report a significant increase in secreted SUPYN concentration in maternal serum in women with pregnancies affected by Down syndrome, suggesting that SUPYN may be useful as an alternate or additional diagnostic marker for this disease

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Dissecting stepwise mutational impairment of megakaryopoiesis in a model of Down syndrome-associated leukemia

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REVISTA / JOURNAL:    - J Clin Invest. 2022 Jul 15;132(14):e161659. doi: 10.1172/JCI161659. Free PMC article

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AUTORES / AUTHORS: - Edward J Evans Jr, James DeGregori

INSTITUCIÓN / INSTITUTION: - Department of Biochemistry and Molecular Genetics and Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA. 

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) have more than 100-fold increased risk of acute megakaryoblastic leukemia (AMKL), but its pathogenesis is poorly understood. In this issue of the JCI, Arkoun et al. engineered stepwise DS-AMKL-associated mutations in GATA1, MPL, and SMC3 in human induced pluripotent stem cell (iPSC) clones from individuals with DS to dissect how each mutation affects gene expression control and megakaryocytic differentiation. The authors showed that the mutations cooperatively promote progression from transient myeloproliferative disorder to DS-AMKL. This study highlights the importance of mutation order and context in the perturbations of transcriptional and differentiation pathways involved in the evolution of hematologic malignancies, which will be critical for the development of preventative and therapeutic interventions.

TÍTULO / TITLE:   - Combining LSD1 and JAK-STAT inhibition targets Down syndrome-associated myeloid leukemia at its core

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REVISTA / JOURNAL:    - Leukemia. 2022 Jul;36(7):1926-1930. doi: 10.1038/s41375-022-01603-3. Epub 2022 May 24. Free PMC art

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AUTORES / AUTHORS: - Juliane Grimm, Raj Bhayadia, Lucie Gack, Dirk Heckl, Jan-Henning Klusmann

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

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome

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REVISTA / JOURNAL:    - J Mother Child. 2022 Jul 20. doi: 10.34763/jmotherandchild.20222601.d-22-00002. Online ahead of

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AUTORES / AUTHORS: - Emir Behlul, Nexhibe Nuhii, Thomas Liehr, Gazmend Temaj

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, University of Prishtina, Prishtina, Kosovo. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are at markedly increased risk for acute lymphoblastic leukaemia (ALL). DS is caused by trisomy of chromosome 21 affecting approximately 1 in 732 newborns in the USA. ALL is the most common cancer in children and constitutes approximately 25% of cancer diagnoses among children under the age of 15. Different protocols for treatment and management of paediatric ALL are available; however, DS children with ALL (DS-ALL) have increased risk of therapy-related toxicity compared to those without DS. Herein, we summarize the available literature on inherited predisposition for ALL, and possibilities for molecular therapy and treatment for DS-ALL patients.

TÍTULO / TITLE:   - Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome

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REVISTA / JOURNAL:    - Gene. 2022 Aug 15;835:146663. doi: 10.1016/j.gene.2022.146663. Epub 2022 Jun 8.

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AUTORES / AUTHORS: - Yo Hamaguchi, Tatsuro Kondoh, Masafumi Fukuda, Kazumi Yamasaki, Koh-Ichiro Yoshiura, Hiroyuki Moriuch, Mariko Morii, Masashi Muramatsu, Takashi Minami, Motomi Osato

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan 

RESUMEN / SUMMARY: - Down syndrome (DS) is a common congenital disorder caused by trisomy 21. Due to the increase in maternal age with population aging and advances in medical treatment for fatal complications in their early childhood, the prevalence and life expectancy of DS individuals have greatly increased. Despite this rise in the number of DS adults, their hematological status remains poorly examined. Here, we report that three hematological abnormalities, leukopenia, macrocytosis, and thrombocytopenia, develop as adult DS-associated features. Multi- and uni-variate analyses on hematological data collected from 51 DS and 60 control adults demonstrated that young adults with DS are at significantly higher risk of (i) myeloid-dominant leukopenia, (ii) macrocytosis characterized by high mean cell volume (MCV) of erythrocytes, and (iii) lower platelet counts than the control. Notably, these features were more pronounced with age. Further analyses on DS adults would provide a deeper understanding and novel research perspectives for multiple aging-related disorders in the general population

TÍTULO / TITLE:   - Clonal Myeloproliferative Disorders in Patients with Down Syndrome-Treatment and Outcome Results from an Institution in Argentina

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REVISTA / JOURNAL:    - Cancers (Basel). 2022 Jul 5;14(13):3286. doi: 10.3390/cancers14133286. Free PMC article

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AUTORES / AUTHORS: - Carla L Pennella, Tamara Muoz Cassina, Jorge G Rossi, Edgardo M Baialardo, Patricia Rubio, Mara A Deu, Luisina Peruzzo, Myriam R Guitter, Cristian G Sanchez de La Rosa, Elizabeth M Alfaro, Mara S Felice

INSTITUCIÓN / INSTITUTION: - Department of Hematology-Oncology, Hospital de Pediatría S.A.M.IC. "Prof. Dr. Juan P. Garrahan", Combate de los Pozos 1881, Buenos Aires C 1245 AAM, Argentina. 

RESUMEN / SUMMARY: - Children with Down syndrome (DS) are at an increased risk of developing clonal myeloproliferative disorders. The balance between treatment intensity and treatment-related toxicity has not yet been defined. We analyzed this population to identify risk factors and optimal treatment. This single-center retrospective study included 78 DS patients <16 years-old with Transient Abnormal Myelopoiesis (TAM, n = 25), Acute Myeloblastic Leukemia (DS-AML, n = 41) of which 35 had classical Myeloid Leukemia associated with DS (ML-DS) with megakaryoblastic immunophenotype (AMKL) and 6 sporadic DS-AML (non-AMKL). Patients with DS-AML were treated according to four BFM-based protocols. Classical ML-DS vs. non-DS-AMKL were compared and the outcome of ML-DS was analyzed according to treatment intensity. Only four patients with TAM required cytoreduction with a 5-year Event-Free Survival probability (EFSp) of 74.4 (±9.1)%. DS-AML treatment-related deaths were due to infections, with a 5-year EFSp of 60.6 (±8.2)%. Megakaryoblastic immunophenotype was the strongest good-prognostic factor in univariate and multivariate analysis (p = 0.000). When compared ML-DS with non-DS-AMKL, a better outcome was associated with a lower relapse rate (p = 0.0002). Analysis of administered treatment was done on 32/33 ML-DS patients who achieved CR according to receiving or not high-dose ARA-C block (HDARA-C), and no difference in 5-year EFSp was observed (p = 0.172). TAM rarely required treatment and when severe manifestations occurred, early intervention was effective. DS-AML good outcome was associated with AMKL with a low relapse-rate. Even if treatment-related mortality is still high, our data do not support the omission of HDARA-C in ML-DS since we observed a trend to detect a higher relapse rate in the arm without HDARA-C.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - COVID-19 and Down syndrome: the spark in the fuel

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REVISTA / JOURNAL:    - Nat Rev Immunol. 2022 Jul;22(7):404-405. doi: 10.1038/s41577-022-00745-w. Free PMC article

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AUTORES / AUTHORS: - Manini Majithia, Susan P Ribeiro

INSTITUCIÓN / INSTITUTION: - Pathology Advanced Translational Research Unit (PATRU), Department of Pathology & Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, US. 

RESUMEN / SUMMARY: - In individuals with Down syndrome, immune dysregulation is partially caused by chromosome 21 trisomy. Here, we discuss how these immune differences may result in poorer COVID-19 outcomes, including diminished responses to vaccination and possibly elevated risk for long COVID.

TÍTULO / TITLE:   - Decreased antibody response after SARS-CoV-2 vaccination in patients with Down Syndrome

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REVISTA / JOURNAL:    - J Infect Dis. 2022 Jun 24;jiac235. doi: 10.1093/infdis/jiac235. Online ahead of print. Free PMC art

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AUTORES / AUTHORS: - Bianca M M Streng, Marin Bont, Eveline M Delemarre, Rob S Binnendijk, Gaby Smit, Gerco den Hartog, Antonia M W Coppus, Esther de Vries, Michel E Weijerman, Regina Lamberts, Gert de Graaf, Fiona R van der Klis, Gestur Vidarsson, Neele Rave, Louis J Bo

INSTITUCIÓN / INSTITUTION: - Department of Paediatric infectious diseases and immunology, Wilhelmina Children s Hospital, University Medical Centre Utrecht, The Netherlands. 

RESUMEN / SUMMARY: - The risk of a severe course of SARS-CoV-2 infection in adults with Down syndrome is increased, resulting in an up to 10-fold increase in mortality, in particular in those over 40 years of age. After primary SARS-CoV-2 vaccination the higher risks remain. In this prospective observational cohort study, SARS-CoV-2 spike S1-specific antibody responses after routine SARS-CoV-2 vaccination (BNT162b2, mRNA-1273 or ChAdOx1) in adults with Down syndrome and healthy controls were compared. Adults with Down syndrome showed lower antibody concentrations after two mRNA vaccinations or after two ChAdOx1 vaccinations. After two mRNA vaccinations lower antibody concentrations were seen with increasing age.

TÍTULO / TITLE:   - SARS-CoV-2 vaccine humoral response in adults with Down syndrome

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REVISTA / JOURNAL:    - Clin Microbiol Infect. 2022 Aug;28(8):1155.e1-1155.e4. doi: 10.1016/j.cmi.2022.04.008. Epub 2022 Ap

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AUTORES / AUTHORS: - Michela Sali, Angelo Carf, Antonella Di Paola, Maria Pereyra Boza, Giuseppe Zampino, Maurizio Sanguinetti, Francesco Landi, Graziano Onder

INSTITUCIÓN / INSTITUTION: - Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Università Cattolica Del Sacro Cuore, Facoltà di Medicina, Rome, Italy 

RESUMEN / SUMMARY: - Objective: People with Down syndrome (DS) are particularly vulnerable to coronavirus disease 2019 (COVID-19) and show altered immune response to vaccination. We aimed to evaluate the immune response of a group of adults with DS treated with standard regimens of SARS-CoV-2 vaccine as compared with an age- and sex-matched group of persons without DS. Methods: We compared antibody responses between 42 subjects with DS (41.6 ± 10.8 years, 57% male), and an age- and sex-matched comparison group of healthy health care workers (HCW) (41.4 ± 8.8 years, 54.8% male) after SARS-CoV-2 vaccination with the standard regimen of BNT162b2 mRNA COVID-19. Receptor binding domain (RBD) IgG antibodies were assessed at 4 time points (baseline, 21 days after the first dose, 21 days after the second dose, and 6 months after the first dose) with Siemens SARS-CoV-2 IgG (COV2G) antibody test. Results: We observed significantly different antibody responses at all time points after vaccination (HCW vs. DS: 7.9 ± 3.9 vs. 1.4 ± 3.6 IU/mL at 21 days after first dose; 358.5 ± 3.8 vs. 38.1 ± 3.0 IU/mL at 21 days after second dose; 34.6 ± 2.4 vs. 7.9 ± 3.1 IU/mL at 6 months after vaccination) and a significantly different time course of decline in antibody titers between the two groups. Discussion: Subjects with DS have a valid antibody response to SARS-CoV-2 vaccination. However, this response is lower than that of subjects in the HCW group. This finding could indicate a more rapid decline in the protective effects of the vaccination in subjects with DS and could suggest that people with DS may benefit from a booster dose of vaccine.

TÍTULO / TITLE:   - Defective immune response to SARS-CoV-2 immunization in Down syndrome correlates with increased susceptibility to severe illness with infection

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REVISTA / JOURNAL:    - J Infect Dis. 2022 Jun 24;jiac237. doi: 10.1093/infdis/jiac237. Online ahead of print.

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AUTORES / AUTHORS: - T Prescott Atkinson

INSTITUCIÓN / INSTITUTION: - Professor and Director Division of Pediatric Allergy & Immunology University of Alabama at Birmingham. 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil

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REVISTA / JOURNAL:    - Hum Genet. 2022 Jun 28;1-18. doi: 10.1007/s00439-022-02468-3. Online ahead of print. Free PMC artic

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AUTORES / AUTHORS: - Matheus Negri Boschiero, Camila Vantini Capasso Palamim, Manoela Marques Ortega, Fernando Augusto Lima Marson

INSTITUCIÓN / INSTITUTION: - Postgraduate Program in Health Science, Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S ao Francisco University, Avenida S ao Francisco de Assis, 218. Jardim S ao José, Bragança Paulista, SP, 12916-900, Brazil. 

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) are more affected by the Coronavirus Disease (COVID)-19 pandemic when compared with other populations. Therefore, the primary aim of our study was to report the death (case fatality rate) from SARS-CoV-2 infection in Brazilian hospitalized patients with DS from 03 January 2020 to 04 April 2021. The secondary objectives were (i) to compare the features of patients with DS and positive for COVID-19 (G1) to those with DS and with a severe acute respiratory infection (SARI) from other etiological factors (G2) to tease apart the unique influence of COVID-19, and (ii) to compare the features of patients with DS and positive for COVID-19 to those without DS, but positive for COVID-19 (G3) to tease apart the unique influence of DS. We obtained the markers for demographic profile, clinical symptoms, comorbidities, and the clinical features for SARI evolution during hospitalization in the first year of the COVID-19 pandemic in Brazil from a Brazilian open-access database. The data were compared between (i) G1 [1619 (0.4%) patients] and G2 [1431 (0.4%) patients]; and between (ii) G1 and G3 [222,181 (64.8%) patients]. The case fatality rate was higher in patients with DS and COVID-19 (G1: 39.2%), followed by individuals from G2 (18.1%) and G3 (14.0%). Patients from G1, when compared to G2, were older (≥ 25 years of age), presented more clinical symptoms related to severe illness and comorbidities, needed intensive care unit (ICU) treatment and non-invasive mechanical ventilation (MV) more frequently, and presented a nearly two fold-increased chance of death (OR = 2.92 [95% CI 2.44-3.50]). Patients from G1, when compared to G3, were younger (< 24 years of age), more prone to nosocomial infection, presented an increased chance for clinical symptoms related to a more severe illness; frequently needed ICU treatment, and invasive and non-invasive MV, and raised almost a three fold-increased chance of death (OR = 3.96 [95% CI 3.60-4.41]). The hi

TÍTULO / TITLE:   - Adults with Trisomy 21 Have Differential Antibody Responses to Influenza A

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REVISTA / JOURNAL:    - Vaccines (Basel). 2022 Jul 19;10(7):1145. doi: 10.3390/vaccines10071145. Free PMC article

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AUTORES / AUTHORS: - Stephanie James, Robert C Haight, Cassandra Hanna, Lindsey Furton

INSTITUCIÓN / INSTITUTION: - School of Pharmacy, Regis University, Denver, CO 80221, USA. 

RESUMEN / SUMMARY: - Down syndrome is caused by an extra copy of chromosome 21. In the past two decades, the life expectancy of individuals with Down syndrome has significantly increased from early 20s to early 60s, creating a population of individuals of which little is known about how well they are protected against infectious disease. The goal of this work is to better understand if adults with Down syndrome are well protected against influenza following vaccination. We obtained plasma samples from 18 adults (average age = 31yo) with Down syndrome and 17 age/gender-matched disomic individuals, all vaccinated against influenza. Antibody concentration to influenza A was measured using ELISA and antibody titers were measured using a hemagglutinin inhibition assay. Statistical analysis was performed using Stata Statistical Software. Adults with Down syndrome had a significantly increased concentration of antibodies to a mixture of influenza A viral proteins; however, they had a significantly decreased titer to the Influenza A/Hong Kong compared to disomic controls. These findings suggest that more vigorous studies of B- and T-cell function in adults with Down syndrome with respect to influenza vaccination are warranted, and that this population may benefit from a high-dose influenza vaccine.

TÍTULO / TITLE:   - Melatonin as an immunomodulator in children with Down syndrome

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REVISTA / JOURNAL:    - Pediatr Res. 2022 Jun;91(7):1812-1820. doi: 10.1038/s41390-021-01611-6. Epub 2021 Aug 16. Free PMC

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AUTORES / AUTHORS: - Dean Huggard, Lynne Kelly, Amy Worrall, Eleanor Gallagher, Lida Fallah, Lucas Lu Yoo, Fiona McGrane, Niamh Lagan, Edna Roche, Joanne Balfe, Derek G Doherty, Eleanor J Molloy

INSTITUCIÓN / INSTITUTION: - Paediatrics, Trinity College, The University of Dublin & Trinity Research in Childhood Centre (TRiCC), Dublin, Ireland.  

RESUMEN / SUMMARY: - Background: Down syndrome (DS) is a disorder characterised by marked immune dysfunction, increased mortality from sepsis, chronic inflammation, increased oxidative stress, sleep disturbance and possibly abnormal endogenous melatonin levels. Melatonin has a myriad of immune functions, and we hypothesised that this therapeutic agent could modulate the innate immune system in this cohort. Methods: We investigated neutrophil and monocyte function (CD11b, TLR4 expression by flow cytometry), genes involved in TLR signalling (MyD88, IRAK4, TRIF), the inflammasome (NLRP3, IL-1β), and circadian rhythm (BMAL, CLOCK, CRY) by qPCR, and inflammatory cytokines (IL-2, IL-6, IL-8, IL-18, IL-1β, TNF-α, IFN-γ, IL-10, IL-1ra, VEGF, Epo, GM-CSF) by enzyme-linked immunosorbent assay (ELISA) following immunomodulation with LPS endotoxin and melatonin. 47 children with DS and 23 age- and sex-matched controls were recruited. Results: We demonstrated that melatonin has several significant effects by reducing CD11b and TLR4 expression, attenuating TLR signalling, genes involved in the inflammasome and has the potential to reduce LPS-induced inflammatory responses. Conclusions: Immunomodulatory effects of melatonin were found in both paediatric cohorts with more marked effects in the children with DS. Melatonin mediates immune response through a wide array of mechanisms and this immunomodulator may buffer the inflammatory response by regulating pro and anti-inflammatory signalling. Impact: We highlight that melatonin mediates its immune response through a wide array of mechanisms, its effects appear to be dose dependant and children with Down syndrome may be more receptive to treatment with it. Immunomodulatory effects of melatonin were demonstrated with marked effects in the children with Down syndrome with a reduction of MyD88, IL-1ß and NLRP3 expression in whole-blood samples. Melatonin is a proposed anti-inflammatory agent with a well-established safety profile, that h

TÍTULO / TITLE:   - Immune screening in children with Down Syndrome

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REVISTA / JOURNAL:    - Acta Paediatr. 2022 Jul 16. doi: 10.1111/apa.16489. Online ahead of print.

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AUTORES / AUTHORS: - Dean Huggard, Amy P Worrall, Colin Kirkham, Fiona McGrane, Rajan Mandira, Laura Casey, Therese Condon, Sara George, Niamh Lagan , Edna Roche , Joanne Balfe, Timonthy Ronan Leahy, Eleanor J Molloy

INSTITUCIÓN / INSTITUTION: - Department of Paediatrics, Children s Hospital Ireland (CHI) at Tallaght, Tallaght University Hospital, Dublin, Ireland. 

RESUMEN / SUMMARY: -

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 Jul 4;53(4):405-411. doi: 10.1093/labmed/lmac012.

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AUTORES / AUTHORS: - Hoda M Abd El-Ghany, Iman Ehsan Abdel Meguid, Rabab El Hawary, Safa Meshaa, 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.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

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 Jun 1;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:   - RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer s disease, and normative aging

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REVISTA / JOURNAL:    - J Neurodev Disord. 2022 May 24;14(1):33. doi: 10.1186/s11689-022-09444-y. Free PMC article

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AUTORES / AUTHORS: - Helen Wong, Jordan M Buck, Curtis Borski, Jessica T Pafford, Bailey N Keller, Ryan A Milstead, Jessica L Hanson, Jerry A Stitzel, Charles A Hoeffer

INSTITUCIÓN / INSTITUTION: - Institute for Behavioral Genetics, University of Colorado Boulder, 1480 30th Street, Boulder, CO, 80309-0447, USA. 

RESUMEN / SUMMARY: - Background: Regulator of calcineurin 1 (RCAN1) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer s disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is characterized in part by progressive neurodegeneration that resembles accelerated aging. Importantly, abnormal RCAN1 levels have been demonstrated to promote memory deficits and pathophysiology that appear symptomatic of DS, AD, and aging. Anomalous diurnal rest-activity patterns and circadian rhythm disruptions are also common in DS, AD, and aging and have been implicated in facilitating age-related cognitive decline and AD progression. However, no prior studies have assessed whether RCAN1 dysregulation may also promote the age-associated alteration of rest-activity profiles and circadian rhythms, which could in turn contribute to neurodegeneration in DS, AD, and aging. Methods: The present study examined the impacts of RCAN1 deficiency and overexpression on the photic entrainment, circadian periodicity, intensity and distribution, diurnal patterning, and circadian rhythmicity of wheel running in young (3-6 months old) and aged (9-14 months old) mice of both sexes. Results: We found that daily RCAN1 levels in the hippocampus and suprachiasmatic nucleus (SCN) of light-entrained young mice are generally constant and that balanced RCAN1 expression is necessary for normal circadian locomotor activity rhythms. While the light-entrained diurnal period was unaltered, RCAN1-null and RCAN1-overexpressing mice displayed lengthened endogenous (free-running) circadian periods like mouse models of AD and aging. In light-entrained young mice, RCAN1 deficiency and overexpression also recapitulated the general hypoactivity, diurnal rest-wake pattern fragmentation, and attenuated amplitudes of circadian activity rhythms reported in DS, preclinical and clinical AD, healthily aging individuals, and rodent models thereof. Under constant darkness, RCAN1-null and RC

TÍTULO / TITLE:   - TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment

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REVISTA / JOURNAL:    - Cell Mol Neurobiol. 2022 Aug;42(6):1659-1669. doi: 10.1007/s10571-021-01060-z. Epub 2021 Feb 27. Fr

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AUTORES / AUTHORS: - Xu Zhou, Xiongjin Chen, Tingting Hong, Miaoping Zhang, Yujie Cai, Lili Cui

INSTITUCIÓN / INSTITUTION: - Guangdong Key Laboratory of Age-Related Cardiac and Cerebral Diseases, Affiliated Hospital of Guangdong Medical University, No.57, Renmindadaonan Road, Xiashan District, Zhanjiang, China. 

RESUMEN / SUMMARY: - The tetrapeptide repeat domain 3 (TTC3) gene falls within Down s syndrome (DS) critical region. Cognitive impairment is a common phenotype of DS and Alzheimer s disease (AD), and overexpression of TTC3 can accelerate cognitive decline, but the specific mechanism is unknown. The TTC3-mediated protein quality control (PQC) mechanism, similar to the PQC system, is divided into three parts: it acts as a cochaperone to assist proteins in folding correctly; it acts as an E3 ubiquitin ligase (E3s) involved in protein degradation processes through the ubiquitin-proteasome system (UPS); and it may also eventually cause autophagy by affecting mitochondrial function. Thus, this article reviews the research progress on the structure, function, and metabolism of TTC3, including the recent research progress on TTC3 in DS and AD; the role of TTC3 in cognitive impairment through PQC in combination with the abovementioned attributes of TTC3; and the potential targets of TTC3 in the treatment of such diseases.

TÍTULO / TITLE:   - Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity

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REVISTA / JOURNAL:    - Int J Mol Sci. 2022 Jun 17;23(12):6769. doi: 10.3390/ijms23126769. Free PMC article

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AUTORES / AUTHORS: - Pierre Conan, Alice Lon, Mathilde Gourdel, Claire Rollet, Loubna Char, Noline Caroff, Nelig Le Goux, Catherine Le Jossic-Corcos, Maha Sinane, Lucile Gentile, Louise Maillebouis, Nadge Loac, Jennifer Martin, Marie Vilaire, Laurent Corcos, Olivier

INSTITUCIÓN / INSTITUTION: - Inserm, Université de Brest, EFS, UMR 1078, GGB, 29200 Brest, France 

RESUMEN / SUMMARY: - CBS encodes a pyridoxal 5 -phosphate-dependent enzyme that catalyses the condensation of homocysteine and serine to form cystathionine. Due to its implication in some cancers and in the cognitive pathophysiology of Down syndrome, the identification of pharmacological inhibitors of this enzyme is urgently required. However, thus far, attempts to identify such molecules have only led to the identification of compounds with low potency and limited selectivity. We consequently developed an original, yeast-based screening method that identified three FDA-approved drugs of the 8-hydroxyquinoline family: clioquinol, chloroxine and nitroxoline. These molecules reduce CBS enzymatic activity in different cellular models, proving that the molecular mechanisms involved in yeast phenotypic rescue are conserved in mammalian cells. A combination of genetic and chemical biology approaches also revealed the importance of copper and zinc intracellular levels in the regulation of CBS enzymatic activity-copper promoting CBS activity and zinc inhibiting its activity. Taken together, these results indicate that our effective screening approach identified three new potent CBS inhibitors and provides new findings for the regulation of CBS activity, which is crucial to develop new therapies for CBS-related human disorders.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - Human Down syndrome microglia are up for a synaptic feast

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REVISTA / JOURNAL:    - Cell Stem Cell. 2022 Jul 7;29(7):1007-1008. doi: 10.1016/j.stem.2022.06.008.

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AUTORES / AUTHORS: - Ferdi Ridvan Kiral, In-Hyun Park

INSTITUCIÓN / INSTITUTION: - Department of Genetics, Yale Stem Cell Center, Yale School of Medicine, New Haven, CT 06520, USA. 

RESUMEN / SUMMARY: - In this issue of Cell Stem Cell, Jin et al. report that human Down syndrome microglia exhibit enhanced synaptic engulfment and accelerated tau-induced cellular senescence in human-mouse chimeric brains. They show that inhibiting interferon signaling rescues both developmental and tau-associated phenotypes, rendering it a potential therapeutic target for Down syndrome.

TÍTULO / TITLE:   - Neurodevelopment in Down syndrome: Concordance in humans and models

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REVISTA / JOURNAL:    - Front Cell Neurosci. 2022 Jul 15;16:941855. doi: 10.3389/fncel.2022.941855. eCollection 2022. Free P

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AUTORES / AUTHORS: - Jenny A Klein, Tarik F Hayda

INSTITUCIÓN / INSTITUTION: - Graduate Program for Neuroscience, Boston University, Boston, MA, United States. 

RESUMEN / SUMMARY: - Great strides have been made over the past 30 years in understanding the neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome (DS). Detailed studies of human tissue coupled with findings from rodent and induced pluripotent stem cells (iPSCs) model systems have uncovered the changes in neurogenesis, synaptic connectivity, and myelination that drive the anatomical and physiological changes resulting in the disability. However, there remain significant conflicting data between human studies and the models. To fully understand the development of ID in DS, these inconsistencies need to be reconciled. Here, we review the well documented neurodevelopmental phenotypes found in individuals with DS and examine the degree to which widely used models recapitulate these phenotypes. Resolving these areas of discord will further research on the molecular underpinnings and identify potential treatments to improve the independence and quality of life of people with DS.

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 Jun 1;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: - 1School of Pharmacy, Collaborative Innovation Center for Cardiovascular Disease Translational MedicineKey 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:   - Neurogenesis and neuronal differentiation in the postnatal frontal cortex in Down syndrome

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REVISTA / JOURNAL:    - Acta Neuropathol Commun. 2022 Jun 8;10(1):86. doi: 10.1186/s40478-022-01385-w. Free PMC article

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AUTORES / AUTHORS: - Emma C Utag, David G Moreno, Kristian T Schafernak, Nicoleta C Arva, Michael H Malek-Ahmadi, Elliott J Mufson, Sylvia E Perez

INSTITUCIÓN / INSTITUTION: - Department of Translational Neuroscience, Barrow Neurological Institute, 350 W Thomas Rd, Phoenix, AZ, 85013, USA. 

RESUMEN / SUMMARY: - Although Down syndrome (DS), the most common developmental genetic cause of intellectual disability, displays proliferation and migration deficits in the prenatal frontal cortex (FC), a knowledge gap exists on the effects of trisomy 21 upon postnatal cortical development. Here, we examined cortical neurogenesis and differentiation in the FC supragranular (SG, II/III) and infragranular (IG, V/VI) layers applying antibodies to doublecortin (DCX), non-phosphorylated heavy-molecular neurofilament protein (NHF, SMI-32), calbindin D-28K (Calb), calretinin (Calr), and parvalbumin (Parv), as well as β-amyloid (APP/Aβ and Aβ1-42) and phospho-tau (CP13 and PHF-1) in autopsy tissue from age-matched DS and neurotypical (NTD) subjects ranging from 28-weeks (wk)-gestation to 3 years of age. Thionin, which stains Nissl substance, revealed disorganized cortical cellular lamination including a delayed appearance of pyramidal cells until 44 wk of age in DS compared to 28 wk in NTD. SG and IG DCX-immunoreactive (-ir) cells were only visualized in the youngest cases until 83 wk in NTD and 57 wk DS. Strong SMI-32 immunoreactivity was observed in layers III and V pyramidal cells in the oldest NTD and DS cases with few appearing as early as 28 wk of age in layer V in NTD. Small Calb-ir interneurons were seen in younger NTD and DS cases compared to Calb-ir pyramidal cells in older subjects. Overall, a greater number of Calb-ir cells were detected in NTD, however, the number of Calr-ir cells were comparable between groups. Diffuse APP/Aβ immunoreactivity was found at all ages in both groups. Few young cases from both groups presented non-neuronal granular CP13 immunoreactivity in layer I. Stronger correlations between brain weight, age, thionin, DCX, and SMI-32 counts were found in NTD. These findings suggest that trisomy 21 affects postnatal FC lamination, neuronal migration/neurogenesis and differentiation of projection neurons and interneurons that likely contribute t

TÍTULO / TITLE:   - Fatty Acids: A Safe Tool for Improving Neurodevelopmental Alterations in Down Syndrome?

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REVISTA / JOURNAL:    - Nutrients. 2022 Jul 13;14(14):2880. doi: 10.3390/nu14142880. Free PMC article

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AUTORES / AUTHORS: - Carmen Martnez-Cu, Renata Bartesaghi

INSTITUCIÓN / INSTITUTION: - Departamento de Fisiología y Farmacología, Facultad de Medicina, Universidad de Cantabria, 39011 Santander, Spain 

RESUMEN / SUMMARY: - The triplication of chromosome 21 causes Down syndrome (DS), a genetic disorder that is characterized by intellectual disability (ID). The causes of ID start in utero, leading to impairments in neurogenesis, and continue into infancy, leading to impairments in dendritogenesis, spinogenesis, and connectivity. These defects are associated with alterations in mitochondrial and metabolic functions and precocious aging, leading to the early development of Alzheimer s disease. Intense efforts are currently underway, taking advantage of DS mouse models to discover pharmacotherapies for the neurodevelopmental and cognitive deficits of DS. Many treatments that proved effective in mouse models may raise safety concerns over human use, especially at early life stages. Accumulating evidence shows that fatty acids, which are nutrients present in normal diets, exert numerous positive effects on the brain. Here, we review (i) the knowledge obtained from animal models regarding the effects of fatty acids on the brain, by focusing on alterations that are particularly prominent in DS, and (ii) the progress recently made in a DS mouse model, suggesting that fatty acids may indeed represent a useful treatment for DS. This scenario should prompt the scientific community to further explore the potential benefit of fatty acids for people with DS.

TÍTULO / TITLE:   - Lamivudine, a reverse transcriptase inhibitor, rescues cognitive deficits in a mouse model of down syndrome

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REVISTA / JOURNAL:    - J Cell Mol Med. 2022 Aug;26(15):4210-4215. doi: 10.1111/jcmm.17411. Epub 2022 Jun 28. Free PMC arti

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AUTORES / AUTHORS: - Maria Martinez de Lagran, Aleix Elizalde-Torren, Roger Paredes, Bonaventura Clotet, Mara Dierssen

INSTITUCIÓN / INSTITUTION: - Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. 

RESUMEN / SUMMARY: - : An elevated activity of retrotransposons is increasingly recognized to be implicated in a wide range of neurodegenerative and neurodevelopmental diseases. Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and a genetic form of Alzheimer s disease. For this reason, we hypothesized that treatment with reverse transcriptase inhibitors could ameliorate DS phenotypes. In this proof of concept study, we treated trisomic (Ts65Dn) mice, a model of DS, with lamivudine, a reverse transcriptase inhibitor. We detected a significant improvement of neurobehavioural phenotypes, and a complete rescue of the hippocampal-dependent recognition memory upon treatment with lamivudine. Despite clinical studies in patients with DS are warranted, this study lays the groundwork for a novel and actionable therapeutic approach.

Neurology - Neurología

TÍTULO / TITLE:   - Moyamoya syndrome presenting in an adult with Down syndrome: A case report with a literature review

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REVISTA / JOURNAL:    - Radiol Case Rep. 2022 Jun 4;17(8):2798-2801. doi: 10.1016/j.radcr.2022.05.006. eCollection 2022 Aug

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AUTORES / AUTHORS: - Mohamed Hamid, Soukaina Cherradi, Ahmed Bourazza

INSTITUCIÓN / INSTITUTION: - Department of Neurology, Mohammed V Military Instruction Hospital, Rabat, Morocco. 

RESUMEN / SUMMARY: - Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome.

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, JS 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:   - Youth with Down syndrome display widespread increased functional connectivity during rest

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REVISTA / JOURNAL:    - : Sci Rep. 2022 Jun 14;12(1):9836. doi: 10.1038/s41598-022-13437-1. Free PMC article

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AUTORES / AUTHORS: - Kelsey D Csumitta, Stephen J Gotts, Liv S Clasen, Alex Martin, Nancy Raitano Lee

INSTITUCIÓN / INSTITUTION: - Department of Psychological and Brain Sciences, Drexel University, Philadelphia, PA, 19103, USA. 

RESUMEN / SUMMARY: - Studies of resting-state functional connectivity in young people with Down syndrome (DS) have yielded conflicting results. Some studies have found increased connectivity while others have found a mix of increased and decreased connectivity. No studies have examined whole-brain connectivity at the voxel level in youth with DS during an eyes-open resting-state design. Additionally, no studies have examined the relationship between connectivity and network selectivity in youth with DS. Thus, the current study sought to fill this gap in the literature. Nineteen youth with DS (Mage = 16.5; range 7-23; 13 F) and 33 typically developing (TD) youth (Mage = 17.5; range 6-24; 18 F), matched on age and sex, completed a 5.25-min eyes-open resting-state fMRI scan. Whole-brain functional connectivity (average Pearson correlation of each voxel with every other voxel) was calculated for each individual and compared between groups. Network selectivity was then calculated and correlated with functional connectivity for the DS group. Results revealed that whole-brain functional connectivity was significantly higher in youth with DS compared to TD controls in widespread regions throughout the brain. Additionally, participants with DS had significantly reduced network selectivity compared to TD peers, and selectivity was significantly related to connectivity in all participants. Exploratory behavioral analyses revealed that regions showing increased connectivity in DS predicted Verbal IQ, suggesting differences in connectivity may be related to verbal abilities. These results indicate that network organization is disrupted in youth with DS such that disparate networks are overly connected and less selective, suggesting a potential target for clinical interventions.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - Down syndrome: a review of ocular manifestations

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REVISTA / JOURNAL:    - Ther Adv Ophthalmol. 2022 Jun 30;14:25158414221101718. doi: 10.1177/25158414221101718. eCollection

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AUTORES / AUTHORS: - Abid Haseeb, Elisah Huynh, Reem H ElSheikh, Ahmed S ElHawary, Christina Scelfo, Danielle M Ledoux, Daniel E Maidana, Abdelrahman M Elhusseiny

INSTITUCIÓN / INSTITUTION: - Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA. 

RESUMEN / SUMMARY: - Down syndrome is the most common genetically mediated intellectual disability. Although many physiologic and pathologic features of Down syndrome are discussed at length in the literature, the ocular manifestations of Down syndrome have seldom been discussed in a comprehensive fashion. Given that Down syndrome has ocular manifestations from the front to the back of the eye, it is important for physicians to become familiar with these manifestations, especially given the prevalence of Down syndrome. This review aims to discuss the varied ophthalmologic manifestations of Down syndrome - including strabismus, amblyopia, nystagmus, accommodation deficits, nasolacrimal duct obstruction, keratoconus, optic nerve pathology, neoplastic disease, and retinal pathology - to facilitate better care and visual outcomes in this important patient population.

TÍTULO / TITLE:   - Nystagmus in Down Syndrome - a Retrospective Notes Review

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REVISTA / JOURNAL:    - Br Ir Orthopt J. 2022 Jun 21;18(1):48-56. doi: 10.22599/bioj.256. eCollection 2022. Free PMC articl

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AUTORES / AUTHORS: - Dilys Oladiwura, Yusrah Shweikh, Clare Roberts, Maria Theodorou

INSTITUCIÓN / INSTITUTION: - Moorfields Eye Hospital NHS Foundation Trust, GB. 

RESUMEN / SUMMARY: - Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus. Methods: A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period. Results: Fifty-one subjects were identified, with complete data in 48. The mean age at presentation was 5.1 years (range 0-26 years). The mean binocular LogMAR visual acuity was 0.55(95%CI 0.53-0.57), mean refractive error was -1.8 Dioptre Sphere, DS (95% CI - 5.251.63) with -1.2 Dioptre Cylinder, DC (95% CI - 1.6-0.7). Ocular misalignment was found in 50% of patients. A diagnosis of Fusion Maldevelopment Nystagmus Syndrome (FMNS) was made in 6.3%, Infantile Nystagmus Syndrome (INS) in 8.4% and ABducting nystagmus/Inter-Nuclear Ophthalmoplegia (INO) in 2.1%. The descriptive term Manifest Horizontal Nystagmus (MNH) was used in the majority, highlighting the difficulties in clinically differentiating the subtypes of nystagmus in DS. Eleven patients had associated cataract. Additional diagnoses unrelated to DS were made in 10.4%. Conclusions: The most frequent type of nystagmus in our cohort was presumed INS. This study highlights the importance of differentiating between FMNS and INS (with a latent component), so that further investigations can be performed as appropriate. Almost 25% had associated cataract, and a further 10% other diagnoses un-associated to DS. Despite INS being known to be associated with DS, further investigations may be required in a small subset with true INS after careful clinical assessment and use of eye movement recordings (where available).

TÍTULO / TITLE:   - Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome

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REVISTA / JOURNAL:    - Medicina (Kaunas). 2022 Jul 26;58(8):995. doi: 10.3390/medicina58080995. Free PMC article

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AUTORES / AUTHORS: - Antonela Ljubic, Vladimir Trajkovski, Branislav Stankovic, Biljana Tojtovska, Andrea Langmann, Galina Dimitrova, Ivana Jovanovic, Milorad Tesic

INSTITUCIÓN / INSTITUTION: - Private Polyclinic "Medika Plus", 1000 Skopje, North Macedonia. 

RESUMEN / SUMMARY: - Background and Objective: This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). Materials and Methods: The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.8 years), emmetropia DS group (41 subjects, mean age 11.7 years) and hyperopia DS group (63 subjects, mean age 10.9 years). The participants underwent inspection, slit-lamp examination, cycloplegic refraction, ocular alignment and ocular motility examination. Ten systemic manifestations were analyzed. Results: There was no difference in the prevalence of any systemic manifestations between the groups. Considering the ophthalmic manifestations, there was statistical difference in the distribution of proportions among the three groups for nystagmus (p = 0.011), iris-stromal atrophy (p = 0.048) and strabismus (p = 0.031). The prevalence of strabismus in our DS myopia group was 35.1%, and in DS hyperopia group 38.1%. Conclusions: The results of our study suggest that DS children and young adults with any refractive error do not have a higher chance of additional systemic manifestations. Myopia in DS was associated with a higher prevalence of nystagmus and iris stromal atrophy, whereas astigmatism was found to be more frequent in hyperopia.

TÍTULO / TITLE:   - Comparative Contralateral Randomized Clinical Trial of Standard (3 mW/cm 2) Versus Accelerated (9 mW/cm 2) CXL in Patients With Down Syndrome: 3-Year Results

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REVISTA / JOURNAL:    - J Refract Surg. 2022 Jun;38(6):381-388. doi: 10.3928/1081597X-20220329-01. Epub 2022 Jun 1.

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AUTORES / AUTHORS: - Hassan Hashemi, Cynthia J Roberts, Renato Ambrsio Jr, Shiva Mehravaran, Farhad Hafezi, Riccardo Vinciguerra, Paolo Vinciguerra, Parsa Panahi, Soheila Asgari

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Purpose: To compare the long-term results of accelerated corneal cross-linking (CXL) (9 mW/cm2, 10 min) with standard CXL (3 mW/cm2, 30 min) in patients with Down syndrome who had keratoconus. Methods: In this contralateral randomized clinical trial, 27 patients with Down syndrome aged 15.78 ± 2.46 years (range: 10 to 19 years) were enrolled. CXL was performed using the KXL System (Avedro, Inc) under general anesthesia, and patients were followed up for 3 years. The main outcome measure was a change in average keratometry in the 3-mm zone around the steepest point (zonal Kmax-3mm). Secondary outcomes were changes in Corvis ST (Oculus Optikgeräte GmbH) biomechanical parameters and vision, refraction, and corneal tomography measurements. Results: Mean 3-year changes in zonal Kmax-3mm were not significantly different between the accelerated and standard groups (-0.06 ± 0.75 and -0.35 ± 0.94 diopters [D], respectively, P = .727). Despite the contralateral design of the study, based on most baseline biomechanical indices, corneas in the standard group were weaker before treatment. The standard group also showed significantly fewer 3-year changes in the stress-strain index (-0.11 ± 0.21 vs -0.30 ± 0.32), integrated radius (+0.99 ± 3.48 vs +3.14 ± 2.84), and deformation amplitude ratio-2mm (-1.38 ± 1.33 vs +0.30 ± 1.75) (all P < .0167). Corneal stiffness in the accelerated group was stable for 2 years, and the decline mainly occurred during the third year. Conclusions: In young patients with Down syndrome who had keratoconus, accelerated and standard CXL showed a similar flattening effect. Standard CXL is better able to maintain corneal stiffness in weaker corneas. With accelerated CXL, despite stable results for 2 years, there was decreased corneal stiffness in the third year. Longer follow-up periods are warranted to study the decreased efficacy on keratoconus progression.

Orthopedics - Ortopedía

TÍTULO / TITLE:   - Treatment of Atlantoaxial Dislocation in Children with Down Syndrome Using Posterior Atlantoaxial Screw Fixation

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REVISTA / JOURNAL:    - Front Surg. 2022 May 26;9:877929. doi: 10.3389/fsurg.2022.877929. eCollection 2022. Free PMC articl

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AUTORES / AUTHORS: - Chengxin Li, Yiren Tian, Qiang Ren, Xiangqian Ji, Ziwei Mao, Ming Wu

INSTITUCIÓN / INSTITUTION: - Department of Orthopedic, Beijing Children s Hospital, Capital Medical University, Beijing, China 

RESUMEN / SUMMARY: - : Background: To investigate the effect of posterior atlantoaxial screw fixation for the treatment of atlantoaxial dislocation in children with Down syndrome (DS). Methods: Children diagnosed with DS who underwent posterior atlantoaxial screw fixation or occipitocervical fusion from January 2017 to January 2020 in Hebei Children s Hospital were retrospectively included. Preoperative CT and MRI were performed to check the os odontoideum (OsO) and spinal cord compression, signal changes and spinal cord injury grade (ASIA grade). Results: All 5 children have atlantoaxial dislocation and OsO. Among which 60% (3/5) of children had changes in spinal cord signals and 40% (2/5) had dural sac compression. Every child underwent posterior atlantoaxial screw fixation (3.5-mm diameter), and the average fusion level was 1.8 (1-2). All 5 cases wore the head-neck-chest brace for 3-6 months after the operation. 1 case had dural tear and recovered well after timely suturing. 1 case had internal fixation breakage of the prosthetic joint and underwent revision surgery. At the last follow-up, all cases were fused and the neurological function were all ASIA grade E. Conclusion: After posterior atlantoaxial screw fixation, fusion and nerve recovery were achieved in all children with atlantoaxial dislocation and OsO. Postoperative head-neck-chest braces are necessary for children, especially those with occipitocervical fusion.

TÍTULO / TITLE:   - Low bone mass and impaired fracture healing in mouse models of Trisomy21 (Down syndrome)

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REVISTA / JOURNAL:    - Bone. 2022 Sep;162:116471. doi: 10.1016/j.bone.2022.116471. Epub 2022 Jun 15.

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AUTORES / AUTHORS: - Kirby M Sherman, Diarra K William, Casey A Welsh, Alexis M Cooper, Alyssa Falck, Shannon Huggins, Rihana S Bokhari, Dana Gaddy, Kent D McKelvey, Lindsay A Dawson, Larry J Suva

INSTITUCIÓN / INSTITUTION: - Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, United States of America. 

RESUMEN / SUMMARY: - : Individuals with Down syndrome (DS), the result of trisomy of human chromosome Hsa21 (Ts21), present with an array of skeletal abnormalities typified by altered craniofacial features, short stature and low bone mineral density (BMD). While bone deficits progress with age in both sexes, low bone mass is more pronounced in DS men than women and osteopenia appears earlier. In the current study, the reproductive hormone status (FSH, LH, testosterone) of 17 DS patients (males, ages range 19-52 years) was measured. Although testosterone was consistently low, the hypothalamic-pituitary-gonadal axis was intact with corresponding rises in FSH and LH. To provide further insight into the heterogeneity of the bone mass in DS, the skeletal phenotypes of three of the most used murine DS models, Ts65Dn (Ts65), TC1, and Dp16(Yey1) (Dp16) were characterized and contrasted. Evaluation of the bone phenotype of both male and female 3-month-old Dp16 mice demonstrated sexual dimorphism, with low bone mass apparent in males, as it is in Ts65, but not in female Dp16. In contrast, male TC1 mice had no apparent bone phenotype. To determine whether low bone mass in DS impacted fracture healing, fractures of the middle phalanx (P2) digits were generated in both male and female Dp16 mice at 15 weeks of age, an age where the sexually dimorphic low BMD persisted. Fracture healing was assessed via in vivo microCT over (13 weeks) 93 days post fracture (DPF). At 93 DPF, 0 % of DS male (n = 12) or female (n = 8) fractures healed, compared to 50 % of the male (n = 28) or female (n = 8) WT littermate fractures. MicroCT revealed periosteal unbridged mineralized callus formation across the fracture gap in Dp16 mice, which was confirmed by subsequent histology. These studies provide the first direct evidence of significantly impaired fracture healing in the setting of DS.

TÍTULO / TITLE:   - Differences in foot dimensions between children and adolescents with and without Down syndrome

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REVISTA / JOURNAL:    - Disabil Rehabil. 2022 Jul;44(15):3959-3966. doi: 10.1080/09638288.2021.1895897. Epub 2021 Mar 11

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AUTORES / AUTHORS: - Nirmeen M Hassan, Andrew K Buldt, Nora Shields, Karl B Landorf, Hylton B Menz, Shannon E Munteanu

INSTITUCIÓN / INSTITUTION: - Discipline of Podiatry, School of Allied Health, Human Services and Sport, La Trobe University, Victoria, Australia. 

RESUMEN / SUMMARY: - : Purpose: This study compared the differences in foot dimensions between children with and without Down syndrome using three-dimensional (3D) foot scans. Methods: 51 children with and 51 children without Down syndrome had a 3D scan taken of their right foot to compare the absolute and normalised (for height or foot length) measurements. Results: Normalised foot length was shorter in children with Down syndrome (MD -11.62 mm, 95% CI -15.06 to -8.18, p < 0.001). When normalised for foot length, ball of foot length (MD 2.87 mm, 95% CI 1.17 to 4.58, p = 0.001), diagonal and horizontal foot width (MD 3.65 mm, 95% CI 1.65 to 5.66, p < 0.001; MD 4.80 mm, 95% CI 2.88 to 6.72, p < 0.001, respectively), ball and instep girth (MD 10.60 mm, 95% CI 5.96 to 15.25, p < 0.001; MD 7.92 mm, 95% CI 3.02 to 12.82, p = 0.002, respectively) and fifth toe height (MD 3.14 mm, 95% CI 2.22 to 4.07, p < 0.001) were greater in children with Down syndrome. Conclusions: Children with Down syndrome have shorter, wider feet with greater girth and fifth toe height measurements relative to children without Down syndrome. These findings have implications for footwear fit and the manufacturing of population-specific footwear. IMPLICATIONS FOR REHABILITATION Footwear-fitting issues arise as a result of the unique foot shape of children with Down syndrome. There are substantial variations in the foot shape of children with and without Down syndrome. Children with Down syndrome require wider, deeper footwear at a given length to accommodate their foot dimensions. These findings have implications for the manufacturing of population-specific footwear.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Management of chronic musculoskeletal pain in an adult with Down syndrome using a modified pain neuroscience approach: a case report

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REVISTA / JOURNAL:    - Physiother Theory Pract. 2022 Jul 1;1-6. doi: 10.1080/09593985.2022.2095682. Online ahead of print.

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AUTORES / AUTHORS: - Maria Osborne, Jason K Grimes

INSTITUCIÓN / INSTITUTION: - Division of Physical Therapy, Shenandoah University, Winchester, VA, USA. 

RESUMEN / SUMMARY: - Background: The use of pain neuroscience education (PNE) in the management of chronic musculoskeletal pain is well documented in the literature for the adult population. However, the use of this component within the larger biopsychosocial approach has not been examined in adults with intellectual disabilities. The purpose of this case report is to describe the utilization of a PNE approach combined with exercise in the physical therapy management of chronic musculoskeletal pain in an adult with Down syndrome. Case description: The patient was a 40-year-old man with Down syndrome who presented with chronic low back pain that affected his sleep, participation at work, and social activities. Modified metaphors were used to assist the patient in understanding his pain experience as part of a multi-modal program that included exercise and aquatic therapy. Outcomes: Upon concluding 11 weeks of treatment, the patient returned to his prior work schedule and social activities with a pain rating at worst of 3/10 on the numeric pain rating scale with only occasional pain episodes. His disability score on the Oswestry Disability Index improved by 39% relative to baseline. Discussion: The findings demonstrate how utilizing PNE within a physical therapy plan of care was used in the management of chronic musculoskeletal pain to improve function in an adult with Down syndrome.

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. Free PMC article

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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 Spearman s 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.

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: - 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:   - 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:   - Postural control in Down syndrome and relationships with the dimensions of the International Classification of Functioning, Disability and Health - a systematic review

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REVISTA / JOURNAL:    - Disabil Rehabil. 2022 Jun;44(11):2207-2222. doi: 10.1080/09638288.2020.1830439. Epub 2020 Oct 13.

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AUTORES / AUTHORS: - Beatriz Helena Brugnaro, Maria Fernanda Pauletti Oliveira, Ana Carolina de Campos, Silvia Letcia Pav ao, Nelci Adriana Cicuto Ferreira Rocha

INSTITUCIÓN / INSTITUTION: - Department of Physical Therapy, Child Development Analysis Laboratory (LADI), Federal University of S ao Carlos (UFSCar), S ao Carlos, SP, Brazil. 

RESUMEN / SUMMARY: - : Purpose: Postural control assessment in children with Down syndrome (DS) may contribute to understanding the impact of impairments in Body Structures and Functions on Activities and Participation, providing a biopsychosocial approach to support clinical practice. The present study aimed to systematically review the literature addressing postural control in children and adolescents with Down syndrome, with a focus in the interactions among the components of the International Classification of Functioning (ICF). Methods: We conducted a tailored search in PubMed; Web of Science, SCOPUS and Science Direct databases. Results: We identified 20 full-texts that fulfilled the inclusion and exclusion criteria. Children and adolescents with DS showed lower postural stability across studies. The ICF components most commonly addressed were Body Structure and Function and Activity. Although the studies measured these components, they did not analyze the interrelationships of components when describing the determinants of postural control in this population. Conclusions: Overall, the studies indicate that children and adolescents with DS show decreased postural stability and greater vulnerability to sensory changes than their typical peers. There is a lack of studies using the biopsychosocial approach. Only few studies have related the activity level of the participants with the variables of postural control. None of them addressed components of Participation and Environmental Factors. The poor methodological quality of the included studies limits the translation of results to clinical practice. Further studies addressing children with disabilities, such as DS, should utilize the ICF framework, thus providing a biopsychosocial approach of health in these individuals. IMPLICATIONS FOR REHABILITATION Children with Down syndrome show decreased postural stability and greater vulnerability to sensory changes than their typical peers.In clinical practice, when assessing postural cont

TÍTULO / TITLE:   - Mediterranean diet and physical activity in Down syndrome pediatric subjects: the DONUT STUDY

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REVISTA / JOURNAL:    - Int J Food Sci Nutr. 2022 Jul 31;1-8. doi: 10.1080/09637486.2022.2104227. Online ahead of print

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AUTORES / AUTHORS: - Luca Pecoraro, Martina Solfa, Elena Ferron, Massimo Mirandola, Silvana Lauriola, Giorgio Piacentini, Angelo Pietrobelli

INSTITUCIÓN / INSTITUTION: - Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, Pediatric Unit, University of Verona, Verona, Italy. 

RESUMEN / SUMMARY: - Introduction: Children with Down syndrome (DS) are characterised by peculiar dietary choices and approach to physical activity. The aim of this study is to quantify their adherence to the Mediterranean diet, their level of physical activity and lipid profile. Methods: Cross-sectional study, involving 61 children affected by DS. Parents of the patients were requested to complete two questionnaires, Mediterranean Diet Quality Index in children and adolescents (KIDMED) and Godin Leisure-Time Physical Activity Questionnaire (Godin). In addition, children underwent a venous sampling to check their lipid profile. Results: High scores on KIDMED and Godin were found and were associated with a reduced likelihood of being overweight or obese (0.001< p < 0.077; 0.001< p < 0.248). The level of physical activity and the probability of finding pathological HDL values in plasma were inversely related (0.001< p < 0.263). Conclusions: The DONUT study proves that KIDMED and Godin questionnaires can identify children affected by DS that can lead to develop inadequate anthropometric variables and low levels of HDL cholesterol. Moreover, the results of this study show that, despite potential difficulties in the pursuit of a correct diet and an adequate approach to physical activity, children with DS could achieve results that are substantially like those of non-DS children.

Prenatal diagnosis - Diagnóstico

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. Free articl

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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. 

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.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus

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REVISTA / JOURNAL:    - Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. eCollection 2022. Free PMC

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AUTORES / AUTHORS: - Jonathan D Santoro, Lina Patel, Ryan Kammeyer, Robyn A Filipink, Grace Y Gombolay, Kathleen M Cardinale, Diego Real de Asua, Shahid Zaman, Stephanie L Santoro, Sammer M Marzouk, Mellad Khoshnood, Benjamin N Vogel, Runi Tanna, Dania Pagarkar, Sofia Dh

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Children s Hospital Los Angeles, Los Angeles, CA, United States. 

RESUMEN / SUMMARY: - Objective: To develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome. Background: There are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area. Methods: The authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome. Results: During the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on "other" studies) as were diagnostic criteria (96% agreement). Conclusions: The authors present international consen

TÍTULO / TITLE:   - Exploring perceptions of positive mental health in young adults with intellectual disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jan;35(1):160-169. doi: 10.1111/jar.12932. Epub 2021 Aug 1.

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AUTORES / AUTHORS: - Darcie-Anne Bailey, Laurie Ford, Victoria F Knight

INSTITUCIÓN / INSTITUTION: - Department of Educational and Counselling Psychology & Special Education, University of British Columbia, Vancouver, Canada. 

RESUMEN / SUMMARY: - Background: Despite having higher levels of mental health difficulties than the general population, limited research exists about how individuals with intellectual disabilities view mental health. Providing education about mental health literacy can contribute to maintaining positive mental health. Individuals who understand positive mental health are more likely to take steps to improve their mental health. Aims: This study explores how young adults with intellectual disabilities conceptualise and define the concept of positive mental health. Materials & methods: Eight participants were interviewed using phenomenographic methods. Results: Using phenomenography as the approach, four categories of description emerged from the analysis and included defining positive mental health as related to physical health, lack of clarity about positive mental health, positive qualities (emotions and actions) and mental health components. Discussion: This study highlights the need for further research, exploring how to provide support through psychoeducation to individuals with intellectual disabilities about mental health.

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, JS 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:   - Prospective memory in adults with down syndrome

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REVISTA / JOURNAL:    - Appl Neuropsychol Adult. 2022 Sep-Oct;29(5):946-957. doi: 10.1080/23279095.2020.1828082. Epub 2020

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AUTORES / AUTHORS: - Audrey Landuran, Bernard N Kaoua

INSTITUCIÓN / INSTITUTION: - Laboratory Handicap, Action, Cognition, Santé, University of Bordeaux, Bordeaux, France. 

RESUMEN / SUMMARY: - Prospective memory (PM) refers to the ability to remember one s intentions (what I must do), at the appropriate time, in the future (when I must do it). The objective of this work is to study the performance of people with Down syndrome (DS) compared to two control groups, matched by mental age and chronological age. For this purpose, an adapted version of the virtual week, which is an ecological test to simulate the functioning of PM in everyday life, was used. The results suggest that people with DS have difficulties in PM that mainly concern the binding (association) between prospective (when to do) and retrospective (what to do) components. Moreover, people with DS perform better in PM when the task is repeated and time-based. These results are discussed in light of studies conducted with other populations.

TÍTULO / TITLE:   - Sleep and behavioral problems in preschool-age children with Down syndrome

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REVISTA / JOURNAL:    - Front Psychol. 2022 Jul 18;13:943516. doi: 10.3389/fpsyg.2022.943516. eCollection 2022. Free PMC ar

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AUTORES / AUTHORS: - Elisa Fuc, Floriana Costanzo, Luciana Ursumando, Laura Celestini, Vittorio Scoppola, Silvia Mancini, Diletta Valentini, Alberto Villani, Stefano Vicari

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

RESUMEN / SUMMARY: - : Sleep is a major concern, especially in people with Down Syndrome (DS). Beyond Obstructive Sleep Apnea, a number of other sleep difficulties have been reported in children with DS, such as delayed sleep onset, night-time awakenings, and early morning awakenings. The detrimental effect of sleep difficulties seems to contribute to and exacerbate the cognitive and behavioral outcomes of DS. Although the screening for sleep disorders is recommended early in age in DS, only a few studies have evaluated the sleep profile in preschool-age children with DS. The aim of the current study was to assess the association between sleep disturbances and behavioral problems in a group of preschool-age children with DS, by means of a feasible and easy-to-administer parent-report questionnaires. Seventy-one preschool-age children with DS, ranging in age from 3 to 5.11 years, were included in this retrospective study. Sleep disturbances were evaluated by means of the Sleep Disturbance Scale for Children, while emotional and behavioral problems by means of the Child Behavior Checklist. Sleep breathing disorders were the most frequent sleep difficulties reported by parents. Moreover, children with clinical scores in total sleep problems exhibited elevation of psychopathological symptoms, namely Total problems, Affective problems, Anxiety problems, Pervasive Developmental Problems, and Attention Deficit/Hyperactivity Problems. The identification of the broader connection between sleep difficulties and emotional and behavioral problems in preschool-age children with DS leads to important considerations for intervention.

TÍTULO / TITLE:   - Evaluation of test-retest reliability and concurrent validity of the Italian version of the pediatric evaluation of disability inventory in children with down syndrome: A cross-sectional study

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REVISTA / JOURNAL:    - J Pediatr Rehabil Med. 2022 Jun 16. doi: 10.3233/PRM-190674. Online ahead of print.

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AUTORES / AUTHORS: - Giovanni Galeoto, Ester Mignolli, Marco Tofani, Carla Sogos, Annamaria Servadio, Donatella Valente, Anna Berardi

INSTITUCIÓN / INSTITUTION: - Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. 

RESUMEN / SUMMARY: - Purpose: Down Syndrome (DS) is a common genetic disorder caused by trisomy 21. Due to cognitive challenges associated with DS, individuals often experience difficulty performing activities of daily living (ADLs), at levels that can range from mild to significant. This study aimed to measure psychometric properties of the Italian version of the Pediatric Evaluation of Disability Inventory (PEDI-I) in the DS population. Methods: The PEDI-I was administered to children with DS. The internal consistency was examined using Cronbach s Alpha. Test-retest reliability was demonstrated by intraclass correlation coefficient (ICC) and Bland-Altman plots. The concurrent validity was evaluated with the Italian version of the Barthel Index. Results: The PEDI-I was administered to 54 children with DS. Cronbach s Alpha showed statistically significant values (0.899 -0.986). The ICC confirmed the reproducibility of the scale with a range of (0.988 -1), while Bland-Altman plots showed a smallest detectable change of (0.18-1.63). The Pearson Correlation Coefficient with the Barthel Index showed statistically significant values for all PEDI-I subscales (range 0.75-0.95). Conclusion: The study provides evidence of good test-retest reliability and convergent validity when used in children with DS. Other psychometric proprieties need to be investigated in future studies.

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 20

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AUTORES / AUTHORS: - Julia B Barrn-Martnez, 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:   - Individuals with Down Syndrome: Editorial

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REVISTA / JOURNAL:    - Brain Sci. 2022 Mar; 12(3): 398. Published online 2022 Mar 16. doi: 10.3390/brainsci12030398

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AUTORES / AUTHORS: - Silvia Lanfranchi, Chiara Meneghetti, Enrico Toffalini, Barbara Carretti

INSTITUCIÓN / INSTITUTION: - Department of Developmental and Social Psychology, University of Padova, 35131 Padova, Italy 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common syndromic cause of intellectual disability, so it has long been of interest to researchers. Although, on average, individuals with DS reach a cognitive functioning level equivalent to that of five- to eight-year-old children, they have distinctive patterns of relative strengths and weaknesses. For a long time, individuals with DS have been described as relatively strong in terms of visuospatial abilities and relatively weak in the sphere of verbal skills. The literature—including the studies collected in this Special Issue (see below)—has shown, however, that this may be an overgeneralization. Several studies have also identified peaks and troughs in the DS profile within each of these domains. As concerns verbal skills, for instance, individuals with DS were better in vocabulary, intentional use of communication and gestures, and social use of communication, than in phonology, grammar, and syntax]. More in general, their receptive language tends to be less impaired than their productive language. A pattern of strengths and weaknesses has emerged in the visuospatial domain as well, as individuals with DS are less impaired in terms of spatial–sequential working memory and visuo-motor integration than they are in visual and spatial–simultaneous working memory, and in mental rotation, although the degree of rotation can make a difference. Attention has also turned more recently to inter-individual variability in the DS profile. For example, when Karmiloff-Smith and colleagues conducted a review, they noted in a number of studies exploring different domains that the variability within the group of individuals with DS ranged from two to three times the variability seen in groups of typically developing individuals. Continuing in this vein, this Special Issue contains eight empirical articles that aim to shed more light on the cognitive profiles of individuals with DS by focusing mainly on the predictors of the cognitive abilities and

TÍTULO / TITLE:   - Attitudes towards sexuality and related caregiver support of people with intellectual disabilities: A systematic review on the perspectives of people with intellectual disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jan;35(1):75-87. doi: 10.1111/jar.12928. Epub 2021 Jul 8. Fre

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AUTORES / AUTHORS: - Wouter de Wit, Wietske M W J van Oorsouw, Petri J C M Embregts

INSTITUCIÓN / INSTITUTION: - Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, The Netherlands. 

RESUMEN / SUMMARY: - Background: Sexual health remains at risk for people with an intellectual disability. Attitudes towards sexuality, its support and education have an important role in promoting sexual health. The current review aims to provide an overview of the current research on supportive and restrictive attitudes towards sexuality and its support of people with intellectual disabilities themselves. Method: A systematic review was conducted, searching across eight databases. The quality of the studies was assessed with the Mixed-Method Appraisal Tool. Results: Six themes emerged from the data: sexual behaviour, sexual identity, intimate relationships, barriers to sexual expression, sex education and support by caregivers. Supportive and restrictive attitudes were reported throughout. Conclusions: Attitudes regarding sexuality of people with intellectual disabilities are heterogeneous and people with intellectual disabilities seem to be able to express their sexual desires, needs and attitudes. Findings allow for improved individual support and in-depth research questions.

TÍTULO / TITLE:   - Unexplained regression in Down syndrome: Management of 51 patients in an international patient database

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Aug 4. doi: 10.1002/ajmg.a.62922. Online ahead of print.

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AUTORES / AUTHORS: - Stephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, Catherine Franklin, Sarah J Hart, Kelsey Haugen, Margaret A Hojlo, Nora Horick, Priya S Kishnani, Kavita Krell, Andrew McCormick, Anna L Milliken, Nicolas M Oreskovic, Katherine G Pawlowski,

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

RESUMEN / SUMMARY: - : Research to guide clinicians in the management of the devastating regression which can affect adolescents and young adults with Down syndrome is limited. A multi-site, international, longitudinal cohort of individuals with a clinical diagnosis of Unexplained Regression in Down syndrome (URDS) was collated through seven Down syndrome clinics. Tiered medical evaluation, a 28-item core symptom list, and interim management are described naturalistically. Improvement-defined by the percentage of baseline function on a Parent-reported Functional Score, overall improvement in symptoms on a Clinician-administered Functional Assessment, or report of management type being associated with improvement-was analyzed. Improvement rates using ECT, IVIG, and others were compared. Across seven clinics, 51 patients with URDS had regression at age 17.6 years, on average, and showed an average 14.1 out of 28 symptoms. Longitudinal improvement in function was achieved in many patients and the medical management, types of treatment, and their impact on function are described. Management with intravenous immunoglobulin (IVIG) was significantly associated with higher rate of improvement in symptoms at the next visit (p = 0.001). Our longitudinal data demonstrates that URDS is treatable, with various forms of clinical management and has a variable course. The data suggests that IVIG may be an effective treatment in some individuals. Our description of the management approaches used in this cohort lays the groundwork for future research, such as development of standardized objective outcome measure and creation of a clinical practice guideline for URDS.

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Evaluation of a smart home platform for adults with Down syndrome

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REVISTA / JOURNAL:    - Assist Technol. 2022 Jun 23;1-11. doi: 10.1080/10400435.2022.2075487. Online ahead of print

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AUTORES / AUTHORS: - Audrey Landuran, Hlne Sauzon, Charles Consel, Bernard N Kaoua

INSTITUCIÓN / INSTITUTION: - Laboratory Handicap, Action, Cognition, Santé, University of Bordeaux, Bordeaux, France. 

RESUMEN / SUMMARY: - : People with Down syndrome (DS) encounter difficulties in their daily lives. In recent years, smart homes have provided some answers to the problem of residential autonomy. In fact, smart homes can provide support for complex routines and activities, while adjusting to the person s behaviors and needs and offering maximum control of the environment. In this context, the objectives of this study were to assess (i) the usability of the smart home platform as well as (ii) the impact of the use (for 6 months) of this platform by adults with DS on many dimensions such as residential autonomy, projection into the future, the development of a life plan, self-determination, quality of life, self-esteem, anxiety, and psychological well-being. The first objective of a preliminary study was to verify that the support platform we use is suitable and can be used effectively by people with DS. For the preliminary study, the evaluations show effective, satisfactory and efficient use of all applications. Regarding the objective of our study, the evaluations show positive impacts on many dimensions such as living skills, self-determination, quality of life, self-esteem, anxiety and certain components of life psychological well-being.

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

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 May;188(5):1526-1537. doi: 10.1002/ajmg.a.62680. Epub 2022 Feb 4.

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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:   - Proxy-report in individuals with intellectual disability: A scoping review

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jun 8. doi: 10.1111/jar.13013. Online ahead of print.

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AUTORES / AUTHORS: - Stephanie L Santoro, Karen Donelan, Melissa Constantine

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

RESUMEN / SUMMARY: - Background: Views can be collected from individuals (self-report) or others on their behalf (proxy-report). Objective: We aimed to review the literature on methods and statistical approaches used to evaluate observer versus self-report responses from individuals with intellectual disability or Down syndrome. Methods: A series of key questions related to statistical approaches and data collection methods were formulated a priori to inform the search strategy and review process. These addressed the topics of self-report in individuals with intellectual disability, including Down syndrome. Using the National Library of Medicine database, PubMed, detailed literature searches were performed. The quality of available evidence was then evaluated, the existing literature was summarised, and knowledge gaps and research needs were identified. Results: Fifty relevant original articles were identified which addressed at least one key question. Study details, including: research design, internal validity, external validity, and relevant results are presented. Review of studies of individuals with intellectual disability which used a variety of statistical approaches showed mixed agreement between self-report and proxy-report. Conclusion: Few studies identified to-date have used self-report from individuals with Down syndrome, but lessons from the existing intellectual disability literature can guide researchers to incorporate self-report from individuals with Down syndrome in the future.

TÍTULO / TITLE:   - Disparities and outcomes of patients living with Down Syndrome undergoing healthcare transitions from pediatric to adult care: A scoping review

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Aug;188(8):2293-2302. doi: 10.1002/ajmg.a.62854. Epub 2022 Jun 10.

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AUTORES / AUTHORS: - Karan Varshney, Rosemary Iriowen, Kayla Morrell, Preshon Pillay, Alexander Fossi, Mary M Stephens

INSTITUCIÓN / INSTITUTION: - Jefferson College of Population Health, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. 

RESUMEN / SUMMARY: - Down Syndrome (DS) is one of the most common chromosomal disorders worldwide, and people with DS experience more co-morbidities and have poorer health outcomes compared to the general population. An area that is not well understood is how patients with DS transition from pediatric to adult care, as well as the details, barriers, and difficulties of these transitions for patients. Hence, we aimed to provide a scoping review of the literature in PubMed, Scopus, and CINAHL on the topic of healthcare transitions (HCTs) for patients with DS. Findings suggest patients with DS who continued receiving care as an adult from a pediatric care provider tended to experience co-morbidities and other adverse health issues at higher rates than those who entirely switch to an adult-care team. Patients with DS were unable to undergo transition due to multiple barriers, such as low income, limited/public insurance, gender, and race. We propose potential steps for transition, which focus on ensuring early planning, communicating better, coordinating services, assessing decision-making capacity, and providing ongoing social and financial support. Future research must further identify and address barriers to HCTs for people with DS.

TÍTULO / TITLE:   - Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome

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REVISTA / JOURNAL:    - Eur J Med Genet. 2022 Aug;65(8):104550. doi: 10.1016/j.ejmg.2022.104550. Epub 2022 Jun 21.

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AUTORES / AUTHORS: - Maria J Cabrera, Kelsey Haugen, Kavita Krell, Amy Torres, Stephanie L Santoro

INSTITUCIÓN / INSTITUTION: - Northeastern University, USA; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.  

RESUMEN / SUMMARY: - Purpose: Individuals with Down syndrome have an increased prevalence of various medical conditions across the lifespan; multidisciplinary Down syndrome specialty clinics can address these needs. However, the caregiver-perceived purpose of bringing their loved one to a Down syndrome specialty clinic has not been investigated. Methods: Retrospective review of electronic intake forms, completed prior to visits at MGH s Down Syndrome Program, was completed. Caregiver concerns were coded and analyzed by visit type (new patient vs follow-up), age, gender, and race. Results: Information from 722 unique patients (53.6% male) across 1,526 visits from 2014 to 2021 were reviewed resulting in 3,762 concerns. Caregivers of children with Down syndrome ages 0-4, and 13-39 reported a top concern of health maintenance which includes establishing patient care and preventative measures. Behavior was the top concern for caregivers of children with Down syndrome ages 5-12. For adults with Down syndrome, ages 40 years or older, neurologic considerations, including regression and dementia, was the top caregiver concern. Across the entire sample, the top three concerns did not vary by gender. Conclusion: The top concerns of caregivers of individuals with Down syndrome fluctuate across the lifespan. Growing multidisciplinary specialty clinics for Down syndrome may use these findings to ensure that caregivers concerns are addressed and improve patient experience.

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 Downs

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 pa

TÍTULO / TITLE:   - I hang out with non-Christians all the time. I just won t date them : The role of religion in the intimate lives of adults with intellectual disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jul;35(4):948-954. doi: 10.1111/jar.12921. Epub 2021 Jul 4.

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AUTORES / AUTHORS: - Alan Santinele Martino

INSTITUCIÓN / INSTITUTION: - Department of Sociology, McMaster University, Hamilton, Ontario, Canada 

RESUMEN / SUMMARY: - Background: A limited number of studies have explored religion s role in the intimate lives of adults with intellectual disabilities. This paper illustrates how religion, both of disabled people and those around them (e.g., family members, support workers), can shape the attitudes and experiences of disabled people toward sexuality. Method: This paper draws on in-depth interviews with adults with intellectual disabilities and support workers from two exploratory projects in Canada. Results: Participants with intellectual disabilities talked about how religion provided a network that served to counter their social isolation and a pool of potential intimate partners, as well as some guidance for maintaining relationships. Support workers discussed the influence of organisational values in their practices related to sexuality. Conclusions: Religion shapes disabled sexualities in various ways, sometimes supporting or constraining sexual expression. This paper invites disability scholars to consider religion when researching the intimate lives of disabled people.

TÍTULO / TITLE:   - Courtesy stigma of parents of children with Down syndrome: Adaptation process and transcendent stage

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REVISTA / JOURNAL:    - J Genet Couns. 2022 Jun;31(3):746-757. doi: 10.1002/jgc4.1541. Epub 2021 Dec 24.

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AUTORES / AUTHORS: - Motoko Watanabe, Chieko Kibe, Masumi Sugawara, Hidehiko Miyake

INSTITUCIÓN / INSTITUTION: - Department of Clinical Genetics, Juntendo University Graduate School of Medicine, Tokyo, Japan. 

RESUMEN / SUMMARY: - Courtesy stigma, which arises from close connections to people with stigmatized characteristics, negatively affects interpersonal relations. This study aimed to evaluate courtesy stigma and the adaptation process of parents of children with Down syndrome based on semi-structured interviews with 23 Japanese parents. The interview themes were (a) negatively perceived interpersonal experiences and coping strategies; (b) information disclosure and others responses; and (c) positively perceived interpersonal experiences. The interview data were transcribed and analyzed based on a grounded theory approach. The results suggested that parents perceived and experienced multidimensional courtesy stigma, and they used various coping strategies categorized in combinations of passive-active and internal-external. All parents disclosed information about their child s diagnosis to others, and reverse disclosure (i.e., revealing own relations with people with disabilities) was characteristically observed thereafter. Through active interaction and reflection, the parents cultivated social relationships, compassion, world views, and community involvement, which led to the transcendent stage. However, internal conflict as a mediator between people with and without Down syndrome re-emerged even after achieving the transcendent stage. These findings could help to develop interventions in genetic counseling for parents to deal with interpersonal relationship difficulties.

TÍTULO / TITLE:   - Parenting a child with Down syndrome: A qualitative study of everyday practices in Danish families

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REVISTA / JOURNAL:    - J Genet Couns. 2022 Jun;31(3):758-770. doi: 10.1002/jgc4.1542. Epub 2021 Dec 23.

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AUTORES / AUTHORS: - Ellen Hollands Steffensen, Lena Have Rosvig, Stephanie Santoro, Lars Henning Pedersen, Ida Vogel, Stina Lou

INSTITUCIÓN / INSTITUTION: - Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark. 

RESUMEN / SUMMARY: - Genetic counseling about Down syndrome is suggested to include information on a future family life. However, there is an insufficient knowledge on the potential impact of parenting a child with Down syndrome on parents everyday practices. We aimed to address this gap by exploring the experienced everyday practices of parents in families where a child has Down syndrome. Taking a qualitative approach, we conducted semi-structured interviews with 25 parents of children with Down syndrome aged 4-12 years. Using reflexive thematic analysis, we identified two themes concerned with the parents practice. The first, Supporting our child , describes how the parents perceived their child as a valuable human being and how this perception founded parents support of the child s development and social interactions. The second, Managing our family life , demonstrates how the parents acted to manage a family life that had become the new normal including being alert toward the child, shaping the practical and logistical framework of daily life, and balancing between being at home and away from home. Overall, the analysis presents an everyday practice aimed at a desirable future for the child with Down syndrome and at a management of everyday life on the family s own terms. In conclusion, this study provides specific knowledge on parents everyday practice, which may inform genetic counseling about Down syndrome and be of value to service providers

TÍTULO / TITLE:   - Detection and prevention of abuse of adults with intellectual and other developmental disabilities in care services: A systematic review

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REVISTA / JOURNAL:    - J Appl Res Intellect DisabiL. 2022 Mar;35(2):338-373. doi: 10.1111/jar.12954. Epub 2021 Oct 26

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AUTORES / AUTHORS: - Josephine Collins, Glynis H Murphy

INSTITUCIÓN / INSTITUTION: - Tizard Centre, University of Kent, Canterbury, Kent, UK. 

RESUMEN / SUMMARY: - Background: The abuse of adults with intellectual and developmental disabilities in care services seems to be relatively common, although there are anecdotal suggestions that abuse may be predictable and preventable. Method: Evidence related to how abuse is detected and prevented within services was reviewed. Database and ancestry searches were conducted, and the methodological quality of studies assessed using the mixed methods appraisal tool. Results: A total of 48 articles were reviewed. The characteristics of victims, perpetrators and organisations were summarised. Several recommendations for how abuse can be detected and prevented were made, including better staff training, supervision and monitoring of services. The quality of studies limits the reliability and validity of research findings. Conclusion: Risk and protective factors related to the abuse of adults with intellectual and other developmental disabilities remain largely consistent. Further research is required to support the implementation of recommendations aimed to detect and prevent abuse.

TÍTULO / TITLE:   - Identifying key components of a web-based long term care planning intervention for family caregivers of individuals with intellectual/developmental disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 May;35(3):867-877. doi: 10.1111/jar.12991. Epub 2022 Mar 11. Fre

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AUTORES / AUTHORS: - Vanessa E Chicas, Caren Steinway, Jack Chen, Matthew C Schwartz, Charmaine Wright, Michelle Cornacchia, Thomas W Davis, John C Berens, Ilka Riddle, Jason F Woodward, Sophia Jan

INSTITUCIÓN / INSTITUTION: - Alan and Marlene Norton College of Medicine at Upstate Medical University, Syracuse, New York, USA. 

RESUMEN / SUMMARY: - Background: Few family caregivers of individuals with intellectual or developmental disabilities develop long-term care (LTC) plans for their relative. Web-based interventions promoting LTC planning have potential for widespread adoption into clinical practice. Methods: We conducted focus groups with 49 primary caregivers of individuals with intellectual or developmental disabilities in NY, PA, OH, DE, and TX to identify barriers and facilitators of LTC planning, review existing tools, and identify critical features for web-based LTC planning interventions. Participants also answered questions on demographic characteristics and functional status. Results: NVivo qualitative analysis software was used to analyse focus groups using a grounded theory approach. Caregivers identified web tool accessibility and topics such as finances, housing, and government benefits as critical. Caregivers also described desired features for a LTC planning tool. Conclusions: This study identified desired characteristics of web-based LTC planning tools and ways in which existing web-based interventions might be adapted or enhanced.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Long-Term Non-invasive Ventilation in Children With Down Syndrome: A Systematic Review

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REVISTA / JOURNAL:    - Front Pediatr. 2022 May 23;10:886727. doi: 10.3389/fped.2022.886727. eCollection 2022. Free PMC art

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AUTORES / AUTHORS: - Summer Hudson, Tamer Abusido, Meghan Sebastianski, Maria L Castro-Codesal, Melanie Lewis, Joanna E MacLean

INSTITUCIÓN / INSTITUTION: - MD Program, Department of Pediatrics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada 

RESUMEN / SUMMARY: - Context: Children with Down syndrome are at risk for obstructive sleep apnea, which may not be resolved by adenotonsillecotmy, as well as other respiratory disorders that may impact breathing during sleep. Long-term non-invasive ventilation, including continuous and bilevel positive airway pressure delivery, is an alternate treatment strategy. Objective: To assess the use and outcomes of long-term non-invasive ventilation in children with Down syndrome including comparison to other children using long-term non-invasive ventilation. Data sources: The search strategy for the scoping review used Medical Subject Headings (MeSH) and free-text terms for "child" and "non-invasive ventilation." MEDLINE (Ovid), Embase (Ovid), CINAHL (Ebsco), Cochrane Library (Wiley), and PubMed databases were searched (1990-2021). Study selection: The scoping review results were searched to identify studies including data on at least three children with Down Syndrome using long-term non-invasive ventilation. Data extraction: Study characteristics, subject characteristics, technology type, and outcome measurements were extracted. Results: A total of 28 articles included 543 children with Down syndrome using long-term non-invasive ventilation. Children with Down syndrome accounted for 18% of children using long-term non-invasive ventilation. Data on efficacy, feasibility, and adherence in children with Down syndrome are comparable to other children. Children with Down syndrome may have greater difficulty initiating long-term non-invasive ventilation, longer time to establish use, and a higher rate of inability to establish use. Outcome data is limited but suggest favorable impact on cardiac function and attention. Limitations: Articles related to long-term non-invasive ventilation use in adolescents and young adults may have been excluded. Conclusions: Children with Down syndrome make up a significant portion of the population of children using long-term non-invasive ventilation. While there i

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. doi: 10.1016/j.jpeds.2021.10.017. Epub 2021 Oct 21. Free PMC arti

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AUTORES / AUTHORS: - Megan Griffiths, Jun Yang, Dhananjay Vaidy, 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, Will

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 Jun;245:172-178.e5. doi: 10.1016/j.jpeds.2022.02.014. Epub 2022 Feb 14.

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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:   - Sleep disorders in Down syndrome: a systematic review

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REVISTA / JOURNAL:    - Arq Neuropsiquiatr. 2022 Apr;80(4):424-443. doi: 10.1590/0004-282X-ANP-2021-0242. Free article

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AUTORES / AUTHORS: - Ravenna Arajo Santos, Lellis Henrique Costa, Rebeca Colho Linhares, Mrcia Pradella-Hallinan, Fernando Morgadinho Santos Coelho, Giuliano da Paz Oliveira

INSTITUCIÓN / INSTITUTION: - Universidade Federal Delta do Parnaíba, Parnaíba PI, Brazil. 

RESUMEN / SUMMARY: - : Background: Sleep disorders are commonly observed in children with Down syndrome (DS) and can lead to significant behavioral and cognitive morbidities in these individuals. Objective: To perform a systematic review evaluating sleep disorders in individuals with DS. Methods: Search strategies were based on combinations of keywords: "Down syndrome"; "trisomy 21"; "sleep disorders"; "dyssomnias"; "sleep apnea"; "obstructive"; "sleeplessness"; "insomnia"; "parasomnias"; and "excessive daytime sleepiness". PubMed and Science Direct were used. Only original studies and retrospective reviews in English published between January 2011 and March 2021 were included. Results: 52 articles were included, most of them involving children and adolescents under 18 years of age. The main sleep disorder associated with DS was obstructive sleep apnea (OSA). Some studies reported the presence of cognitive dysfunction in patients with DS and sleep-disordered breathing, and few have been found about parasomnia, insomnia, and daytime sleepiness in these patients. Movement disorders and unusual postures during sleep may be related to disordered sleep breathing in DS. The main treatment options for OSA are continuous positive airway pressure therapy (CPAP), surgery, and weight control. Computational modeling associated with MRI has been used to plan surgical interventions in these patients. Conclusions: Individuals with DS are at high risk of developing sleep-related breathing disorders. The main sleep disorder associated with DS was OSA. The presence of sleep-disordered breathing contributes to a worsening of cognitive function in patients with DS.

TÍTULO / TITLE:   - Detecting sleep apnea in adults with Down syndrome using WatchPAT: A feasibility study

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Jul 16;129:104302. doi: 10.1016/j.ridd.2022.104302. Online ahead of print

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AUTORES / AUTHORS: - Manna A Alma, Rixt Nijenhuis-Huls, Zarah de Jong, Aurora M Ulgiati, Anja de Vries, Alain D Dekker

INSTITUCIÓN / INSTITUTION: - 1Department of Practice-oriented Scientific Research (PWO), Alliade, Heerenveen, The Netherlands; Department of Health Sciences, Applied Health Research, University of Groningen, University Medical Center Groningen, Groningen, The Netherlan 

RESUMEN / SUMMARY: - : Background: In daily practice, sleep apnea is underdiagnosed in people with Down syndrome. The WatchPAT can detect sleep apnea in a less invasive way.Aim: This study aimed to evaluate the feasibility of the WatchPAT to detect sleep apnea in individuals with Down syndrome. Methods and procedures: Thirty-one participants with Down syndrome (aged 18+) were included. Sleep apnea was detected with the WatchPAT and compared to results of the STOP-Bang Questionnaire (current practice). Experiences of participants, caregivers and clinicians were studied using a combination of quantitative and qualitative methods.Outcomes and results: Among the 68% of participants who accepted the WatchPAT, sleep apnea was detected in 95% of participants. Younger participants and participants with mild/moderate intellectual disabilities were more likely to accept the device. STOP-Bang did not detect most cases of sleep apnea. For the degree of sleep apnea, interrater reliability was substantial (k = 0.71) to almost perfect (k = 0.91). Considering experiences, caregivers and clinicians were predominantly positive about the WatchPAT.Conclusions: Our study showed that the WatchPAT is a promising device to detect sleep apnea in people with Down syndrome. Compared to polysomnography, detection with this device is less invasive and less burdensome for people with Down syndrome. Furthermore, the WatchPAT is a relatively accessible solution to implement in care institutions.

TÍTULO / TITLE:   - Accuracy of WatchPAT for the Diagnosis of Obstructive Sleep Apnea in Patients with Chronic Obstructive Pulmonary Disease

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REVISTA / JOURNAL:    - COPD. 2020 Feb;17(1):34-39. doi: 10.1080/15412555.2019.1707789. Epub 2020 Jan 22. Free PMC article

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AUTORES / AUTHORS: - R Jen, J E Orr, Y Li, P DeYoun, E Smales, A Malhotra, R L Owens

INSTITUCIÓN / INSTITUTION: - Division of Respiratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. 

RESUMEN / SUMMARY: - : The co-existence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA), termed the overlap syndrome (OVS), is associated with adverse outcomes that may be reversed with treatment. However, diagnosis is limited by the apparent need for in-laboratory polysomnography (PSG). WatchPAT is a portable diagnostic device that is validated for the diagnosis of OSA that might represent an attractive tool for the diagnosis of OVS.Subjects with established COPD were recruited from a general population. Subjects underwent PSG and simultaneous recording with WatchPAT. Pulmonary function testing and questionnaires were also performed.A total of 36 subjects were recruited and valid data was obtained on 33 (age 63 ± 7, BMI 28 ± 7, 61% male, FEV1 56 ± 20% predicted). There was no significant difference in the apnea-hypopnea index (AHI) between PSG and WatchPAT (19 ± 20 versus 20 ± 15 events/h; mean difference 2(-2, 5) events/h; p = 0.381). The AHI was not significantly different in rapid eye movement (REM) and non-rapid eye movement (NREM) determined by PSG versus REM and NREM determined by WatchPAT. WatchPAT slightly overestimated total and REM sleep time, and sleep efficiency. The sensitivity of WatchPAT at an AHI cut-off of ≥5, ≥15, and ≥30 events/h for corresponding PSG AHI cut-offs was 95.8, 92.3, and 88.9, respectively; specificity was 55, 65.0, and 95.8, respectively.WatchPAT is able to determine OSA reliably in patients with COPD. The availability of this additional diagnostic modality may lead to improved detection of OVS, which may in turn lead to improved outcomes for a group of COPD patients at high risk of poor outcomes.

TÍTULO / TITLE:   - Predictors of sleep disordered breathing in children with Down syndrome: a systematic review and meta-analysis

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REVISTA / JOURNAL:    - Eur Respir Rev. 2022 Jun 28;31(164):220026. doi: 10.1183/16000617.0026-2022. Print 2022 Jun 30. Fre

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AUTORES / AUTHORS: - Nardin Hanna, Youstina Hanna, Henrietta Blinder, Julia Bokhaut, Sherri L Katz

INSTITUCIÓN / INSTITUTION: - University of Ottawa, Faculty of Medicine, Ottawa, ON, Canada. 

RESUMEN / SUMMARY: - Abstract: Children with Down syndrome are at increased risk of sleep disordered breathing (SDB). SDB is associated with significant morbidity including neurocognitive impairment, cardiometabolic disease and systemic inflammation. The identification of clinical markers that may predict SDB is critical in facilitating early diagnosis and treatment, and ultimately, preventing morbidity. The objective of this systematic review was to identify predictors of SDB in patients with Down syndrome. A search was conducted using MEDLINE, Embase, the Cochrane Central Register of Controlled Trials and the Cumulative Index to Nursing and Allied Health Literature. A meta-analysis was performed according to the Meta-analyses of Observational Studies in Epidemiology checklist. Our review of the literature identified inconsistent associations between a variety of variables and SDB in children with Down syndrome, although the quality of evidence was poor. Meta-analysis of age and sex identified that children with OSA were older than those without OSA, and there was a similar risk of OSA in males and females, although risk favoured males. Currently, the American Academy of Pediatrics guidelines recommend that children with Down syndrome undergo polysomnography by the age of 4 years. Our review supports the recommendation for routine screening of children with Down syndrome. However, results from our meta-analysis suggest a need for longitudinal screening to diagnose children who may develop SDB as they get older.

TÍTULO / TITLE:   - Airwave oscillometry to measure lung function in children with Down syndrome

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REVISTA / JOURNAL:    - Pediatr Res. 2022 Jun;91(7):1775-1780. doi: 10.1038/s41390-021-01664-7. Epub 2021 Jul 29.

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AUTORES / AUTHORS: - Monica L Vielkind, Katharine L Hamlington, Kristine Wolter-Warmerdam, Maxene R Meier, Andrew H Liu, Francis J Hickey, Mark A Brown, Emily M DeBoer

INSTITUCIÓN / INSTITUTION: - 1Division of Pulmonary Medicine, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA 

RESUMEN / SUMMARY: - : Background: Children with Down syndrome are at risk for significant pulmonary co-morbidities, including recurrent respiratory infections, dysphagia, obstructive sleep apnea, and pulmonary vascular disease. Because the gold standard metric of lung function, spirometry, may not be feasible in children with intellectual disabilities, we sought to assess the feasibility of both airwave oscillometry and spirometry in children with Down syndrome. Methods: Thirty-four children with Down syndrome aged 5-17 years were recruited. Participants performed airwave oscillometry and spirometry before and 10 min after albuterol. Outcomes include success rates, airway resistance and reactance pre- and post-bronchodilator, and bronchodilator response. Results: Participants were median age 9.2 years (interquartile range 7.2, 12.0) and 47% male. Airwave oscillometry was successful in 26 participants (76.5%) and 4 (11.8%) were successful with spirometry. No abnormalities in airway resistance were detected, and 16/26 (61.5%) had decreased reactance. A positive bronchodilator response by oscillometry was observed in 5/23 (21.7%) of those with successful pre- and post-bronchodilator testing. Conclusions: Measures of pulmonary function were successfully obtained using airwave oscillometry in children with Down syndrome, which supports its use in this high-risk population. Impact: Children with Down syndrome are at risk for significant pulmonary co-morbidities, but the gold standard metric of lung function, spirometry, may not be feasible in children with intellectual disabilities. This may limit the population s enrollment in clinical trials and in standardized clinical care. In this prospective study of lung function in children with Down syndrome, airwave oscillometry was successful in 76% of participants but spirometry was successful in only 12%. This study reinforces that measures of pulmonary function can be obtained successfully using airwave oscillometry in children with Down syndr

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 Ozc

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children s 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.

Surgery - Cirugía

TÍTULO / TITLE:   - Treatment of Atlantoaxial Dislocation in Children with Down Syndrome Using Posterior Atlantoaxial Screw Fixation

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REVISTA / JOURNAL:    - Front Surg. 2022 May 26;9:877929. doi: 10.3389/fsurg.2022.877929. eCollection 2022. Free PMC articl

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AUTORES / AUTHORS: - Chengxin Li, Yiren Tian, Qiang Ren, Xiangqian Ji, Ziwei Mao, Ming Wu

INSTITUCIÓN / INSTITUTION: - Department of Orthopedic, Beijing Children s Hospital, Capital Medical University, Beijing, China 

RESUMEN / SUMMARY: - Background: To investigate the effect of posterior atlantoaxial screw fixation for the treatment of atlantoaxial dislocation in children with Down syndrome (DS). Methods: Children diagnosed with DS who underwent posterior atlantoaxial screw fixation or occipitocervical fusion from January 2017 to January 2020 in Hebei Children s Hospital were retrospectively included. Preoperative CT and MRI were performed to check the os odontoideum (OsO) and spinal cord compression, signal changes and spinal cord injury grade (ASIA grade). Results: All 5 children have atlantoaxial dislocation and OsO. Among which 60% (3/5) of children had changes in spinal cord signals and 40% (2/5) had dural sac compression. Every child underwent posterior atlantoaxial screw fixation (3.5-mm diameter), and the average fusion level was 1.8 (1-2). All 5 cases wore the head-neck-chest brace for 3-6 months after the operation. 1 case had dural tear and recovered well after timely suturing. 1 case had internal fixation breakage of the prosthetic joint and underwent revision surgery. At the last follow-up, all cases were fused and the neurological function were all ASIA grade E. Conclusion: After posterior atlantoaxial screw fixation, fusion and nerve recovery were achieved in all children with atlantoaxial dislocation and OsO. Postoperative head-neck-chest braces are necessary for children, especially those with occipitocervical fusion.

Therapeutics - Terapéutica

TÍTULO / TITLE:   - Prenatal and Postnatal Therapies for Down s Syndrome and Associated Developmental Anomalies and Degenerative Deficits: A Systematic Review of Guidelines and Trials

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REVISTA / JOURNAL:    - Front Med (Lausanne). 2022 Jul 5;9:910424. doi: 10.3389/fmed.2022.910424. eCollection 2022. Free PM

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AUTORES / AUTHORS: - Zinnat Hasina, Chi Chiu Wang

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China. 

RESUMEN / SUMMARY: - Down s syndrome (DS) is the most common genetic disorder at birth. Multiple developmental abnormalities before birth and early onset of degenerative deficits after birth are features of DS. Early treatment for the manifestations associated with DS in either prenatal or postnatal period may improve clinical outcomes. However, information available from professional bodies and to communities is very limited. We carried out a systematic review and attempted meta-analysis of clinical trials for developmental abnormalities and degenerative deficits in DS. Only 15 randomized controlled trials (RCTs) in 995 (24 days to 65 years old) individuals with DS showed some improvement in cognitive disorders, development and growth, and musculoskeletal problem. However, each trial used different parameters and methods to measure various outcomes. RCTs of prenatal interventions in fetus with DS are lacking. The efficacy and safety of specific interventions in DS are still largely unknown. Proper counseling of the potential treatment for pregnant mothers who wish to continue their pregnancy carrying fetus with DS, and to health care professionals who take care of them are not adequate nowadays.

TÍTULO / TITLE:   - Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition

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REVISTA / JOURNAL:    - Case Rep Rheumatol. 2022 Jul 16;2022:4889102. doi: 10.1155/2022/4889102. eCollection 2022. Free

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AUTORES / AUTHORS: - Jordan T Jones

INSTITUCIÓN / INSTITUTION: - Dep Pediatrics, Children s Mercy Kansas City, Kansas, MO, USA. 

RESUMEN / SUMMARY: - Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.

Education - Educación

TÍTULO / TITLE:   - Multidisciplinary early intervention in Down syndrome: a retrospective study

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REVISTA / JOURNAL:    - Minerva Pediatr (Torino). 2022 Jun 15. doi: 10.23736/S2724-5276.22.06797-0. Online ahead of print.

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AUTORES / AUTHORS: - Alice E Piatti, Bianca Stefani, Giulia Bin, Stefania Bargagna

INSTITUCIÓN / INSTITUTION: - Developmental Severe Disabilities Unit, IRCCS Stella Maris Foundation, Pisa, Italy. 

RESUMEN / SUMMARY: - Background: Scientific community agrees on the importance of early, global multidisciplinary family-based care in the neuropsychological development of children with disabilities, including those with Down Syndrome (DS). This study aim to assess whether a structured, multidisciplinary early intervention carried out at the outpatient service of Stella Maris I.R.C.C.S. can lead to better outcomes in children with DS, in development and cognitive functioning, compared to conventional care provided by the local health centres (ASL). Methods: We included in the study 20 children with DS. The experimental group received early treatment (0-36 months), while the control group only underwent cognitive assessments. In order to examine the outcome of long-term cognitive functioning, our study evaluated assessments of the children at 5 years of age, by administering the WPPSI-III scale. Results: In our result we can confirm the typical profile of children with Down Syndrome described in the literature. Comparing the results obtained in both groups, we see that the mean scores obtained by the experimental group, in all three of the quotients examined, are higher than the mean scores obtained by the control group. Conclusions: This study makes it clear that early, structured, multidisciplinary interventions play a fundamental role in modifying neurocognitive outcomes in children with Down Syndrome. The results of this study thus confirm the usefulness of the outpatient service in the early management of individuals with DS, following a multidisciplinary, structured pathway focused on the child and his/her family.

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 May;35(3):910-915. doi: 10.1111/jar.12979. Epub 2022 Feb 2.

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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:   - Individuals with Down Syndrome: Editorial

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REVISTA / JOURNAL:    - Brain Sci. 2022 Mar; 12(3): 398. Published online 2022 Mar 16. doi: 10.3390/brainsci12030398

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AUTORES / AUTHORS: - Silvia Lanfranchi, Chiara Meneghetti, Enrico Toffalini, Barbara Carretti

INSTITUCIÓN / INSTITUTION: - Department of Developmental and Social Psychology, University of Padova, 35131 Padova, Italy; 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common syndromic cause of intellectual disability, so it has long been of interest to researchers. Although, on average, individuals with DS reach a cognitive functioning level equivalent to that of five- to eight-year-old children, they have distinctive patterns of relative strengths and weaknesses. For a long time, individuals with DS have been described as relatively strong in terms of visuospatial abilities and relatively weak in the sphere of verbal skills. The literature—including the studies collected in this Special Issue (see below)—has shown, however, that this may be an overgeneralization. Several studies have also identified peaks and troughs in the DS profile within each of these domains. As concerns verbal skills, for instance, individuals with DS were better in vocabulary, intentional use of communication and gestures, and social use of communication, than in phonology, grammar, and syntax]. More in general, their receptive language tends to be less impaired than their productive language. A pattern of strengths and weaknesses has emerged in the visuospatial domain as well, as individuals with DS are less impaired in terms of spatial–sequential working memory and visuo-motor integration than they are in visual and spatial–simultaneous working memory, and in mental rotation, although the degree of rotation can make a difference. Attention has also turned more recently to inter-individual variability in the DS profile. For example, when Karmiloff-Smith and colleagues conducted a review, they noted in a number of studies exploring different domains that the variability within the group of individuals with DS ranged from two to three times the variability seen in groups of typically developing individuals. Continuing in this vein, this Special Issue contains eight empirical articles that aim to shed more light on the cognitive profiles of individuals with DS by focusing mainly on the predictors of the cognitive abilities and

TÍTULO / TITLE:   - Prospective memory in adults with down syndrome

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REVISTA / JOURNAL:    - Appl Neuropsychol Adult. 2022 Sep-Oct;29(5):946-957. doi: 10.1080/23279095.2020.1828082. Epub 20

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AUTORES / AUTHORS: - Audrey Landuran, Bernard N Kaoua

INSTITUCIÓN / INSTITUTION: - Laboratory Handicap, Action, Cognition, Santé, University of Bordeaux, Bordeaux, France. 

RESUMEN / SUMMARY: - Prospective memory (PM) refers to the ability to remember one s intentions (what I must do), at the appropriate time, in the future (when I must do it). The objective of this work is to study the performance of people with Down syndrome (DS) compared to two control groups, matched by mental age and chronological age. For this purpose, an adapted version of the virtual week, which is an ecological test to simulate the functioning of PM in everyday life, was used. The results suggest that people with DS have difficulties in PM that mainly concern the binding (association) between prospective (when to do) and retrospective (what to do) components. Moreover, people with DS perform better in PM when the task is repeated and time-based. These results are discussed in light of studies conducted with other populations.

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 Barrn-Martnez, 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:   - Toilet Training in Children and Adolescents with Down Syndrome

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REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2022 Aug 1;43(6):e381-e389. doi: 10.1097/DBP.0000000000001058. Epub 2022 Jan 1

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AUTORES / AUTHORS: - Taylor Drehe, Kristine Wolter-Warmerdam, Samantha Holland, Terry Katz, Lina Patel

INSTITUCIÓN / INSTITUTION: -  

RESUMEN / SUMMARY: - Objectives: Although the challenges of toilet training for children and adolescents with Down syndrome (DS) are well-known, details such as specific associations with comorbidities and related exacerbating factors are lacking. This study aims to characterize the nature of toilet training in a cohort of children and adolescents with DS and evaluate characteristics and comorbid conditions that may contribute to or prolong toilet training success in those with DS. Method: This was a retrospective, cross-sectional study investigating toilet training in children and adolescents with DS. A survey was completed by 137 patients parents or guardians as part of their care experience in the clinic. Results: Although toilet training on average began at age 3.40 years (SD = 1.47), children and adolescents with DS typically began telling caregivers they needed to use the toilet at 4.80 years (SD = 2.11), no longer used diapers during the day at 5.03 years (SD = 1.98) and night at 5.88 years (SD = 2.48), and were described by their caregivers as being fully toilet trained at 6.60 years (n = 28; SD = 2.43; range = 3.00-14.00 years). There was a linear trend in the age groups between 2 to 4 years (n = 37), 5 to 7 years (n = 42), 8 to 12 years (n = 39), and 13 to 17 years (n = 19) and the proportion of children and adolescents fully toilet trained (2 to 4 years = 0.040, 5 to 7 years = 0.211, 8 to 12 years = 0.278, and 13 to 17 years = 0.529). Typical readiness signs that children and adolescents with DS display and those most predictive of toileting success are reported. Placing the child on a schedule was the most successful (45.2%) training method identified by parents, with 55.8% of the families trying this approach. Children and adolescents aged 8 to 12 years with behavioral challenges were more likely (75.0%) to have daytime accidents compared with those without (25.9%), p = 0.006. Conclusion: Children and adolescents with DS in this sample started toilet training at 3.4 years

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 Downs

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 pa

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, Mrio Filho, Eduardo Moresi, Carla Loureno, Rosana Trist ao

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:   - Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases

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REVISTA / JOURNAL:    - J Neurodev Disord. 2022 May 2;14(1):28. doi: 10.1186/s11689-022-09438-w. Free PMC article

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AUTORES / AUTHORS: - Chirag Gupta, Pramod Chandrashekar, Ting Jin, Chenfeng He, Saniya Khullar, Qiang Chang, Daifeng Wang

INSTITUCIÓN / INSTITUTION: - Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA. 

RESUMEN / SUMMARY: - Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized by significant impairment in intellectual and adaptive functioning, and both genetic and environmental factors underpin IDD biology. Molecular and genetic stratification of IDDs remain challenging mainly due to overlapping factors and comorbidity. Advances in high throughput sequencing, imaging, and tools to record behavioral data at scale have greatly enhanced our understanding of the molecular, cellular, structural, and environmental basis of some IDDs. Fueled by the "big data" revolution, artificial intelligence (AI) and machine learning (ML) technologies have brought a whole new paradigm shift in computational biology. Evidently, the ML-driven approach to clinical diagnoses has the potential to augment classical methods that use symptoms and external observations, hoping to push the personalized treatment plan forward. Therefore, integrative analyses and applications of ML technology have a direct bearing on discoveries in IDDs. The application of ML to IDDs can potentially improve screening and early diagnosis, advance our understanding of the complexity of comorbidity, and accelerate the identification of biomarkers for clinical research and drug development. For more than five decades, the IDDRC network has supported a nexus of investigators at centers across the USA, all striving to understand the interplay between various factors underlying IDDs. In this review, we introduced fast-increasing multi-modal data types, highlighted example studies that employed ML technologies to illuminate factors and biological mechanisms underlying IDDs, as well as recent advances in ML technologies and their applications to IDDs and other neurological diseases. We discussed various molecular, clinical, and environmental data collection modes, including genetic, imaging,

TÍTULO / TITLE:   - Detection and prevention of abuse of adults with intellectual and other developmental disabilities in care services: A systematic review

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REVISTA / JOURNAL:    - J Appl Res Intellect DisabiL. 2022 Mar;35(2):338-373. doi: 10.1111/jar.12954. Epub 2021 Oct 26.

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AUTORES / AUTHORS: - Josephine Collins, Glynis H Murphy

INSTITUCIÓN / INSTITUTION: - Tizard Centre, University of Kent, Canterbury, Kent, UK. 

RESUMEN / SUMMARY: - Background: The abuse of adults with intellectual and developmental disabilities in care services seems to be relatively common, although there are anecdotal suggestions that abuse may be predictable and preventable. Method: Evidence related to how abuse is detected and prevented within services was reviewed. Database and ancestry searches were conducted, and the methodological quality of studies assessed using the mixed methods appraisal tool. Results: A total of 48 articles were reviewed. The characteristics of victims, perpetrators and organisations were summarised. Several recommendations for how abuse can be detected and prevented were made, including better staff training, supervision and monitoring of services. The quality of studies limits the reliability and validity of research findings. Conclusion: Risk and protective factors related to the abuse of adults with intellectual and other developmental disabilities remain largely consistent. Further research is required to support the implementation of recommendations aimed to detect and prevent abuse.

TÍTULO / TITLE:   - Factors affecting residential staff s role in supporting the sexuality of adults with intellectual disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jul;35(4):1028-1036. doi: 10.1111/jar.12935. Epub 2021 Aug 29.

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AUTORES / AUTHORS: - Marie-Jose Leclerc, Diane Morin

INSTITUCIÓN / INSTITUTION: - Department of Psychology, Université du Quebec a Montreal, Montréal, Quebec, Canada. 

RESUMEN / SUMMARY: - Background: For adults with intellectual disabilities living in a residential care facility, support staff, who are an integral part of their daily lives, can play an important role in supporting their sexuality. Even though multiple programmes exist, barriers remain when it comes to their application. This study aimed to identify factors affecting residential staff s perception of their role in supporting the sexuality of adults with intellectual disabilities living in a residential care facility as well as facilitators and barriers to that support. Method: Semi-structured interviews were conducted with 12 support staff. Results: A thematic analysis revealed four factors, namely support staff s role, facilitators and barriers, sexuality of residents with intellectual disabilities and policies and regulations. Conclusion: Results illustrate the importance of expanding support staff s knowledge, clarifying procedures for implementing the support staff s role and establishing a clear practise framework.

TÍTULO / TITLE:   - Qualitative study on the factors and role of residential staff that influence and effect the support provided to adults with intellectual disabilities regarding the expression of their sexuality

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REVISTA / JOURNAL:    - Evid Based Nurs. 2022 Jul;25(3):93. doi: 10.1136/ebnurs-2021-103487. Epub 2022 Jan 19.

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AUTORES / AUTHORS: - Michael Brown

INSTITUCIÓN / INSTITUTION: - School of Nursing and Midwifery, Queens University Belfast, Belfast, UK 

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Attitudes towards sexuality and related caregiver support of people with intellectual disabilities: A systematic review on the perspectives of people with intellectual disabilities

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Jan;35(1):75-87. doi: 10.1111/jar.12928. Epub 2021 Jul 8. Free P

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AUTORES / AUTHORS: - Wouter de Wit, Wietske M W J van Oorsouw, Petri J C M Embregts

INSTITUCIÓN / INSTITUTION: - Tranzo, Tilburg School of Social and Behavioral Sciences, Tilburg University, Tilburg, The Netherlands 

RESUMEN / SUMMARY: - Background: Sexual health remains at risk for people with an intellectual disability. Attitudes towards sexuality, its support and education have an important role in promoting sexual health. The current review aims to provide an overview of the current research on supportive and restrictive attitudes towards sexuality and its support of people with intellectual disabilities themselves. Method: A systematic review was conducted, searching across eight databases. The quality of the studies was assessed with the Mixed-Method Appraisal Tool. Results: Six themes emerged from the data: sexual behaviour, sexual identity, intimate relationships, barriers to sexual expression, sex education and support by caregivers. Supportive and restrictive attitudes were reported throughout. Conclusions: Attitudes regarding sexuality of people with intellectual disabilities are heterogeneous and people with intellectual disabilities seem to be able to express their sexual desires, needs and attitudes. Findings allow for improved individual support and in-depth research questions.

TÍTULO / TITLE:   - Positive behavioural support for children and young people with developmental disabilities in special education settings: A systematic review

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 May;35(3):719-735. doi: 10.1111/jar.12989. Epub 2022 Feb 23.

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AUTORES / AUTHORS: - Lorena Beqiraj, Louise D Denne, Richard P Hastings, Andreas Paris

INSTITUCIÓN / INSTITUTION: - Centre for Educational Development, Appraisal and Research (CEDAR), University of Warwick, Coventry, UK. 

RESUMEN / SUMMARY: - Background: Positive behavioural support (PBS) can be effective in supporting children and young people (CYP) with developmental disabilities. This systematic review focused on describing the components and nine characteristics of PBS that have been used with CYP with developmental disabilities in special education settings, and the evidence for PBS effectiveness in these settings. Additionally, facilitators and barriers to PBS implementation, and experiences of stakeholders, were investigated. Method: Systematic searches followed a registered protocol, and 30 studies were identified, narratively synthesised, and critically appraised. Results: From the 30 studies included, 10 reported the presence of all 9 PBS characteristics, 17 reported on 8 PBS characteristics, and 3 reported on 7 characteristics. Overall, 28 studies demonstrated significant decreases in behaviours that challenge and increases in alternative behaviours, if increasing alternative behaviours was part of the interventions. Conclusions: There was a lack of evidence on facilitators and barriers, and a lack of qualitative studies exploring experiences of stakeholders with PBS in special education settings. The available evidence suggested that not all studies reported on all PBS characteristics when describing the approach followed. In addition, available evidence suggested that most studies demonstrated effectiveness of PBS regarding the measured outcomes. Implications and future directions are discussed.

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