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Aging - Envejecimiento

TÍTULO / TITLE:   - Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers

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REVISTA / JOURNAL:    - JAMA Neurol. 2022 Aug 1;79(8):797-807. doi:10.1001/jamaneurol.2022.1740. Free PMC article

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AUTORES / AUTHORS: - Shorena Janelidze et al.

INSTITUCIÓN / INSTITUTION: - Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Lund, Sweden. 

RESUMEN / SUMMARY: - Importance: Novel plasma biomarkers, especially phosphorylated tau (p-tau), can detect brain tau aggregates in Alzheimer disease. Objective: To determine which plasma biomarker combinations can accurately detect tau pathological brain changes in Down syndrome (DS). Design, setting, and participants: The cross-sectional, multicenter Alzheimer s Biomarker Consortium-Down Syndrome study included adults with DS and a control group of siblings without DS. All participants with plasma, positron emission tomography (PET), and cognitive measures available by the time of data freeze 1.0 were included. Participants were enrolled between 2016 and 2019, and data were analyzed from August 2021 to April 2022. Exposures: Plasma p-tau217, glial fibrillary acidic protein (GFAP), amyloid β42/40 (Aβ42/Aβ40), neurofilament light (NfL), and total tau (t-tau); tau positron emission tomography (tau-PET) and Aβ-PET. Main outcomes and measures: The primary outcome was tau-PET status. Secondary outcomes included Aβ-PET status and cognitive performance. Results: Among 300 participants with DS and a control group of 37 non-DS siblings, mean (SD) age was 45.0 (10.1) years, and 167 (49.6%) were men. Among participants with DS who all underwent plasma p-tau217 and GFAP analyses, 258 had other plasma biomarker data available and 119, 213, and 288 participants had tau-PET, Aβ-PET, and cognitive assessments, respectively. Plasma p-tau217 and t-tau were significantly increased in Aβ-PET-positive tau-PET-positive (A+T+) DS and A+T- DS compared with A-T- DS while GFAP was only increased in A+T+ DS. Plasma p-tau217 levels were also significantly higher in A+T+ DS than A+T- DS. In participants with DS, plasma p-tau217 and GFAP (but not other plasma biomarkers) were consistently associated with abnormal tau-PET and Aβ-PET status in models covaried for age (odds ratio range, 1.59 [95% CI, 1.05-2.40] to 2.32 [95% CI, 1.36-3.96]; P < .03). A combination of p-tau217 and

TÍTULO / TITLE:   - Neural correlates of episodic memory in adults with Down syndrome and Alzheimer s disease

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REVISTA / JOURNAL:    - Alzheimers Res Ther. 2022 Sep 3;14(1):123. doi: 10.1186/s13195-022-01064-x. Free PMC article

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AUTORES / AUTHORS: - Bessy Benejam et al... Juan Fortea

INSTITUCIÓN / INSTITUTION: - Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain. 

RESUMEN / SUMMARY: - Background: Adults with Down syndrome are at an ultra-high risk of developing early-onset Alzheimer s disease. Episodic memory deficits are one of the earliest signs of the disease, but their association with regional brain atrophy in the population with Down syndrome has not been explored. We aimed to investigate the neuroanatomical correlates of episodic memory in adults with Down syndrome and symptomatic Alzheimer s disease. Methods: Single-center, cross-sectional study. A total of 139 adults with Down syndrome (85 asymptomatic and 54 with symptomatic Alzheimer s disease) were included in the study (mean age 43.6 ± 10.9 years, 46% female). Episodic memory was assessed using the modified Cued Recall Test. Immediate (trial 1 free immediate recall, trial 3 free immediate recall, total free immediate recall score, and total immediate score) and delayed scores (free delayed recall score and total delayed score) were examined. Cortical thickness from magnetic resonance imaging was determined with surface-based morphometry using the FreeSurfer 6.0 software package. The clusters of reduced cortical thickness were compared between symptomatic and asymptomatic participants to create a cortical atrophy map. Then, the correlation between cortical thickness and the modified Cued Recall Test subscores were separately assessed in symptomatic and asymptomatic subjects, controlling for age, sex, and severity of intellectual disability. Results: Compared with asymptomatic participants, those with symptomatic Alzheimer s disease showed a pattern of cortical atrophy in posterior parieto-temporo-occipital cortices. In symptomatic subjects, trial 1 immediate free recall significantly correlated with cortical atrophy in lateral prefrontal regions. Trial 3 free immediate recall and total free immediate recall were associated with the most widespread cortical atrophy. Total immediate score was related to posterior cortical atrophy, including lateral parietal and temporal cortex, posterio

TÍTULO / TITLE:   - Tau seeding activity in various regions of down syndrome brain assessed by two novel assays

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REVISTA / JOURNAL:    - Acta Neuropathol Commun. 2022 Sep 5;10(1):132. doi: 10.1186/s40478-022-01436-2. Free PMC article

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AUTORES / AUTHORS: - Nana Jin et al

INSTITUCIÓN / INSTITUTION: - Department of Neurochemistry, Inge Grundke-Iqbal Research Floor, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, 10314, USA. 

RESUMEN / SUMMARY: - : Propagation of tau pathology via the seeding of naive tau aggregation underlies the progression of Alzheimer s disease (AD) and related tauopathies. Individuals with Down syndrome (DS) develop tau pathology at the fourth decade of life, but tau seeding activity in DS brain has not yet been determined. To measure tau seeding activity, we developed capture assay and seeded-tau aggregation assay with truncated tau151-391. By using brain extracts from AD and related tauopathies, we validated these two methods and found that the brain extracts from AD and related tauopathies, but not from controls and the diseases in which tau was not hyperphosphorylated, captured in vitro and seeded 3R-tau151-391 and 4R-tau151-391 to aggregate in cultured cells similarly. Captured tau151-391 levels were strongly correlated with the seeded-tau151-391 aggregation. Employing these two newly developed assays, we analyzed tau seeding activity in the temporal (TC), frontal (FC), and occipital cortex (OC); corpus callosum (CC); and cerebellar cortex (CBC) of DS and control brains. We found that the extracts of TC, FC, or OC, but not the CC or CBC of DS or the corresponding brain regions of control cases, captured tau151-391. Levels of the captured tau151-391 by brain extracts were positively correlated with their levels of phosphorylated tau. Extracts of cerebral cortex and CC, but not CBC of DS with a similar tau level, induced more tau151-391 aggregation than did the corresponding samples from the control cases. Thus, higher tau seeding activity associated with tau hyperphosphorylation was found in the TC, FC, and OC of DS compared with the corresponding control regions as well as with the CBC and CC of DS. Of note, these two assays are sensitive, specific, and repeatable at a low cost and provide a platform for measuring tau seeding activity and for drug screening that targets tau propagation.

TÍTULO / TITLE:   - Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome

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REVISTA / JOURNAL:    - JAMA Netw Open. 2022 Aug 1;5(8):e2225573. doi: 10.1001/jamanetworkopen.2022.25573. Free PMC article

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AUTORES / AUTHORS: - Laura Videla et al Juan Fortea

INSTITUCIÓN / INSTITUTION: - Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain. 

RESUMEN / SUMMARY: - Importance: Alzheimer disease (AD) is the main medical problem in adults with Down syndrome (DS). However, the associations of age, intellectual disability (ID), and clinical status with progression and longitudinal cognitive decline have not been established. Objective: To examine clinical progression along the AD continuum and its related cognitive decline and to explore the presence of practice effects and floor effects with repeated assessments. Design, setting, and participants: This is a single-center cohort study of adults (aged >18 years) with DS with different ID levels and at least 6 months of follow-up between November 2012 and December 2021. The data are from a population-based health plan designed to screen for AD in adults with DS in Catalonia, Spain. Individuals were classified as being asymptomatic, having prodromal AD, or having AD dementia. Exposures: Neurological and neuropsychological assessments. Main outcomes and measures: The main outcome was clinical change along the AD continuum. Cognitive decline was measured by the Cambridge Cognitive Examination for Older Adults With Down Syndrome and the modified Cued Recall Test. Results: A total of 632 adults with DS (mean [SD] age, 42.6 [11.4] years; 292 women [46.2%]) with 2847 evaluations (mean [SD] follow-up, 28.8 [18.7] months) were assessed. At baseline, there were 436 asymptomatic individuals, 69 patients with prodromal AD, and 127 with AD dementia. After 5 years of follow-up, 17.1% (95% CI, 12.5%-21.5%) of asymptomatic individuals progressed to symptomatic AD in an age-dependent manner (0.6% [95% CI, 0%-1.8%] for age <40 years; 21.1% [95% CI, 8.0%-32.5%] for age 40-44 years; 41.4% [95% CI, 23.1%-55.3%] for age 45-49 years; 57.5% [95% CI, 38.2%-70.8%] for age ≥50 years; P < .001), and 94.1% (95% CI, 84.6%-98.0%) of patients with prodromal AD progressed to dementia with no age dependency. Cognitive decline in the older individuals was most common among those who progressed to symptomatic A

TÍTULO / TITLE:   - Blood circulating miR-28-5p and let-7d-5p associate with premature ageing in Down syndrome

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REVISTA / JOURNAL:    - Mech Ageing Dev. 2022 Sep;206:111691. doi: 10.1016/j.mad.2022.111691. Epub 2022 Jun 30.

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AUTORES / AUTHORS: - Cristina Morsiani et al

INSTITUCIÓN / INSTITUTION: - DIMES-Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy. 

RESUMEN / SUMMARY: - Persons with Down syndrome (DS) undergo a premature ageing with early onset of age-related diseases. The main endpoint of this study was the identification of blood circulating microRNAs (c-miRs) signatures characterizing DS ageing process. A discovery phase based on array was performed in plasma samples obtained from 3 young (31 ± 2 years-old) and 3 elderly DS persons (66 ± 2 years-old). Then, a validation phase was carried out for relevant miRs by RT-qPCR in an enlarged cohort of 43 DS individuals (from 19 up to 68 years-old). A group of 30 non-trisomic subjects, as representative of physiological ageing, was compared. In particular miR-628-5p, miR-152-3p, miR-28-5p, and let-7d-5p showed a lower level in younger DS persons (age ≤ 50 years) respect to the age-matched controls. Among those, miR-28-5p and let-7d-5p were found significantly decreased in physiological ageing ( oldest group ), thus they emerged as possible biomarkers of premature ageing in DS. Moreover, measuring blood levels of beta amyloid peptides, Aβ-42 was assessed at the lowest levels in physiological ageing and correlated with miR-28-5p and let-7d-5p in DS, while Aβ-40 correlated with miR-628-5p in the same cohort. New perspectives in terms of biomarkers are discussed.

TÍTULO / TITLE:   - Amyloid- β and tau deposition influences cognitive and functional decline in Down syndrome

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REVISTA / JOURNAL:    - Neurobiol Aging. 2022 Nov;119:36-45. doi: 10.1016/j.neurobiolaging.2022.07.003. Epub 2022 Jul 21. F

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AUTORES / AUTHORS: - Monika Grigorova et al

INSTITUCIÓN / INSTITUTION: - Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, Cambridge, UK.  

RESUMEN / SUMMARY: - This study investigates whether tau has (i) an independent effect from amyloid-β on changes in cognitive and functional performance and (ii) a synergistic relationship with amyloid-β in the exacerbation of decline in aging Down syndrome (DS). 105 participants with DS underwent baseline PET [18F]-AV1451 and PET [11C]PiB scans to quantify tau deposition in Braak regions II-VI and the Striatum and amyloid-β status respectively. Linear Mixed Effects models were implemented to assess how tau and amyloid-β deposition are related to change over three time points. Tau was a significant independent predictor of cognitive and functional change. The three-way interaction between time, [11C]PiB status and tau was significant in the models of episodic memory and visuospatial cognition. Baseline tau is a significant predictor of cognitive and functional decline, over and above the effect of amyloid-β status. Results suggest a synergistic relationship between amyloid-β status and tau as predictors of change in memory and visuospatial cognition.

TÍTULO / TITLE:   - Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer s disease

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REVISTA / JOURNAL:    - Life Sci Alliance. 2022 Aug 1;5(12):e202101205. doi: 10.26508/lsa.202101205. Print 2022 Dec.

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AUTORES / AUTHORS: - Julia Viard et al

INSTITUCIÓN / INSTITUTION: - Centre Psychiatrie and Neurosciences, INSERM U894, Paris, France. 

RESUMEN / SUMMARY: - Down syndrome (DS) is caused by human chromosome 21 (HSA21) trisomy. It is characterized by a poorly understood intellectual disability (ID). We studied two mouse models of DS, one with an extra copy of the Dyrk1A gene (189N3) and the other with an extra copy of the mouse Chr16 syntenic region (Dp(16)1Yey). RNA-seq analysis of the transcripts deregulated in the embryonic hippocampus revealed an enrichment in genes associated with chromatin for the 189N3 model, and synapses for the Dp(16)1Yey model. A large-scale yeast two-hybrid screen (82 different screens, including 72 HSA21 baits and 10 rebounds) of a human brain library containing at least 107 independent fragments identified 1,949 novel protein-protein interactions. The direct interactors of HSA21 baits and rebounds were significantly enriched in ID-related genes (P-value < 2.29 × 10-8). Proximity ligation assays showed that some of the proteins encoded by HSA21 were located at the dendritic spine postsynaptic density, in a protein network at the dendritic spine postsynapse. We located HSA21 DYRK1A and DSCAM, mutations of which increase the risk of autism spectrum disorder (ASD) 20-fold, in this postsynaptic network. We found that an intracellular domain of DSCAM bound either DLGs, which are multimeric scaffolds comprising receptors, ion channels and associated signaling proteins, or DYRK1A. The DYRK1A-DSCAM interaction domain is conserved in Drosophila and humans. The postsynaptic network was found to be enriched in proteins associated with ARC-related synaptic plasticity, ASD, and late-onset Alzheimer s disease. These results highlight links between DS and brain diseases with a complex genetic basis.

TÍTULO / TITLE:   - DYRK1A antagonists rescue degeneration and behavioural deficits of in vivo models based on amyloid-β, Tau and DYRK1A neurotoxicity

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REVISTA / JOURNAL:    - Sci Rep. 2022 Sep 23;12(1):15847. doi: 10.1038/s41598-022-19967-y.

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AUTORES / AUTHORS: - Bangfu Zhu et al

INSTITUCIÓN / INSTITUTION: - School of Physiology, Pharmacology and Neuroscience, Faculty of Life Science, University of Bristol, Biomedical Sciences Building, University Walk, Bristol, BS8 1TD, UK. 

RESUMEN / SUMMARY: - Alzheimer s disease (AD) involves pathological processing of amyloid precursor protein (APP) into amyloid-β and microtubule associated protein Tau (MAPT) into hyperphosphorylated Tau tangles leading to neurodegeneration. Only 5% of AD cases are familial making it difficult to predict who will develop the disease thereby hindering our ability to treat the causes of the disease. A large population who almost certainly will, are those with Down syndrome (DS), who have a 90% lifetime incidence of AD. DS is caused by trisomy of chromosome 21 resulting in three copies of APP and other AD-associated genes, like dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) overexpression. This implies that DYRK1a inhibitors may have therapeutic potential for DS and AD, however It is not clear how overexpression of each of these genes contributes to the pathology of each disease as well as how effective a DYRK1A inhibitor would be at suppressing any of these. To address this knowledge gap, we used Drosophila models with human Tau, human amyloid-β or fly DYRK1A (minibrain (mnb)) neuronal overexpression resulting in photoreceptor neuron degeneration, premature death, decreased locomotion, sleep and memory loss. DYRK1A small molecule Type 1 kinase inhibitors (DYR219 and DYR533) were effective at suppressing these disease relevant phenotypes confirming their therapeutic potential.

Cardiology - Cardiología

TÍTULO / TITLE:   - Peri-operative myocardial performance in infants with Down syndrome undergoing CHD repair

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REVISTA / JOURNAL:    - Cardiol Young. 2022 Jun;32(6):960-968. doi: 10.1017/S1047951121003449. Epub 2021 Aug 31.

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AUTORES / AUTHORS: - Lyudmyla Zakharchenko et al

INSTITUCIÓN / INSTITUTION: - Department of Paediatric Cardiology, Children s Health Ireland at Crumlin, Dublin, Ireland 

RESUMEN / SUMMARY: - Background: We aimed to characterise the impact of Down syndrome on myocardial performance and loading conditions in infants with Down syndrome and CHD over the peri-operative period by comparing them with infants matched for cardiac lesion with a normal microarray. Methods: Left ventricular global longitudinal strain, right ventricular free wall longitudinal strain, left ventricular end-systolic wall stress, and right ventricular systolic pressure were measured in the two groups over the peri-operative period. Results: Fifty-five infants had a diagnosis of Down syndrome and these were compared with 29 control infants. Left ventricular global longitudinal strain decreased in both groups post-operatively with the Down syndrome group demonstrating some recovery pre-discharge (18 ± 3 versus 16 ± 3 %, p = 0.01). Right ventricular longitudinal strain significantly decreased in both groups post-operatively with the control group demonstrating better recovery by hospital discharge (14 ± 4 versus 18 ± 6 %, p < 0.01). End-systolic wall stress was lower and right ventricular systolic pressure was higher in the Down syndrome group throughout the study period (all p < 0.05). Down syndrome was an independent predictor of the duration of ventilation, post-operative use of inotropes, and intensive care stay. Right ventricular longitudinal strain was an independent predictor of duration of intensive care stay. Conclusion: This study demonstrates the difference between the two groups in relation to left and right ventricular function, particularly prior to discharge, and outlines the additional impact a diagnosis of Down syndrome has on myocardial performance during the peri-operative period.

TÍTULO / TITLE:   - The evolving treatment of congenital heart disease in patient with Down syndrome: Current state of knowledge

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REVISTA / JOURNAL:    - J Card Surg. 2022 Aug 21. doi: 10.1111/jocs.16875. Online ahead of print.

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AUTORES / AUTHORS: - Hani N Alkattan et al.

INSTITUCIÓN / INSTITUTION: - Department of Cardiac Sciences, Ministry of the National Guard - Health Affairs, Riyadh, Saudi Arabia 

RESUMEN / SUMMARY: - Objectives: Children with Down syndrome are usually seen as not worthy of high-risk cardiac surgery. Through this review, we try to show the results of curative and palliative surgery for functional single ventricle syndrome in patients with Down syndrome, as there is currently no standard protocol for the treatment of this category of patients. Methods: An exhaustive search of all related published medical literature included the following domains: Down syndrome and diagnosis, Down syndrome and taxonomy, Down syndrome, and natural history, Down syndrome and cardiovascular abnormalities, Down syndrome and pulmonary hypertension, Down syndrome and institutionalization, Down syndrome and surgical repair, Down syndrome, and single ventricle palliation, Down syndrome and Glenn, Down syndrome, and Fontan. Results: 12 articles were included from 775 identified. Low-risk cardiac surgery procedure should be provided for Down syndrome with a balanced ventricular septal defect. There is no universal agreement about the surgical approach for Down syndrome with unbalanced ventricular septal defects, but it can be performed at relatively low risk. Conclusions: TCPC in Down syndrome patients could be a relatively low-risk procedure if patients are prepared well and their pulmonary vascular resistance is low. Randomized prospective studies are required to show the long-term impact of TCPC palliation and develop a better understanding of standardized care of these patients.

TÍTULO / TITLE:   - Long-Term Observational Outcomes after Total Correction of Congenital Heart Disease in Korean Patients with Down Syndrome: A National Cohort Study

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REVISTA / JOURNAL:    - Children (Basel). 2022 Aug 31;9(9):1329. doi: 10.3390/children9091329. Free PMC article

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AUTORES / AUTHORS: - Ji Hee Kwak et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 03181, Korea 

RESUMEN / SUMMARY: - Background: In the present study, the population prevalence and postoperative morbidity and mortality in Down syndrome patients who underwent total correction for congenital heart disease were investigated using data from a large national cohort. Methods: Retrospective administrative data from 2,395,966 participants born between 2008 and 2012 were acquired from the National Investigation of Birth Cohort in Korea. Among Down syndrome patients, 58.3% had congenital heart disease and 32.3% underwent total correction. Propensity score matching (maximum 1:1) and stabilized inverse probability treatment weighting (IPTW) were performed for each group (153 Down syndrome patients and 4482 non-Down syndrome patients). Results: T late mortality rate was significantly higher in the Down syndrome group than in the non-Down syndrome group (8.1% vs. 3.8%). No differences were observed in postoperative heart failure and arrhythmias, but pulmonary hypertension was significantly greater in the Down syndrome group than in the non-Down syndrome group (26.9% vs. 7.0%). The length of hospitalization was longer in the Down syndrome group than in the non-Down syndrome group (14 days vs. 11 days; interquartile range (IQR): 10-25 vs. 6-19; p < 0.0001). After total correction, readmission frequency for any reason was minimally but statistically significantly higher in the Down syndrome group compared to the non-Down syndrome group (5 times vs. 5 times; IQR: 3-8 vs. 4-9; p < 0.0001). However, the number of emergency room visits was minimally but significantly lower in the Down syndrome group compared to the non-Down syndrome group (2 visits vs. 2 visits (IQR): 2-7 vs. 1-4; p = 0.016). Conclusions: Down syndrome patients with congenital heart disease undergoing total correction showed pulmonary hypertension after surgery, longer length of hospitalization, frequent hospitalization after surgery, and a higher rate of late mortality.

TÍTULO / TITLE:   - Cardiac Structure and Function in Adults with Down Syndrome

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Sep 28;19(19):12310. doi: 10.3390/ijerph191912310.

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AUTORES / AUTHORS: - Fadi M Azar et al

INSTITUCIÓN / INSTITUTION: - Kirk Kerkorian School of Medicine at University of Nevada, Las Vegas (UNLV), Las Vegas, NV 89154, USA 

RESUMEN / SUMMARY: - Various factors may alter the risk for cardiovascular disease in adults with Down syndrome (Ds), yet few studies have examined differences in cardiac physiology in this population. Previous research suggested lower systolic and diastolic function, but inconsistent methodologies and younger samples warrant research in adults with Ds. Our aim is to compare the cardiac structure and function of adults with Ds to age- and sex-matched adults without Ds. Echocardiography was used to assess systolic function, diastolic function, and cardiac structure in n = 19 adults (Ds n = 9, control n = 10). Regarding cardiac structure, adults with Ds had increased left ventricular posterior wall thickness at end-systole compared to adults without Ds (p = 0.007). Regarding systolic and diastolic function, adults with Ds were found to have lower septal peak systolic annular velocity (S ) (p = 0.026), lower lateral and septal mitral annular early diastolic velocity (E ) (p = 0.007 and p = 0.025, respectively), lower lateral peak mitral annular late diastolic velocity (A ) (p = 0.027), and higher lateral and septal mitral annular early systolic velocity to diastolic velocity ratios (E/e ) (p = 0.001 and p = 0.001, respectively). Differences in both cardiac structure and function were found when comparing adults with Ds to matched adults without Ds. Most of the differences were indicative of worse diastolic function.

TÍTULO / TITLE:   - Pulmonary hypertension in children with down syndrome: Results from the pediatric pulmonary hypertension network registry

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REVISTA / JOURNAL:    - J Pediatr. 2022 Aug 24;S0022-3476(22)00762-4. doi: 10.1016/j.jpeds.2022.08.027. Online ahead of pri

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AUTORES / AUTHORS: - Rachel K Hopper et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children s Hospital Stanford, Palo Alto, CA.  

RESUMEN / SUMMARY: - Objective: To characterize distinct comorbidities, outcomes, and treatment patterns in children with Down syndrome and pulmonary hypertension in a large, multicenter pediatric pulmonary hypertension registry. Study design: We analyzed data from the Pediatric Pulmonary Hypertension Network (PPHNet) Registry, comparing demographic and clinical characteristics of children with Down syndrome and children without Down syndrome. We examined factors associated with pulmonary hypertension resolution and a composite outcome of pulmonary hypertension severity in the cohort with Down syndrome. Results: Of 1475 pediatric patients with pulmonary hypertension, 158 (11%) had Down syndrome. The median age at diagnosis of pulmonary hypertension in patients with Down syndrome was 0.49 year (IQR, 0.21-1.77 years), similar to that in patients without Down syndrome. There was no difference in rates of cardiac catheterization and prescribed pulmonary hypertension medications in children with Down syndrome and those without Down syndrome. Comorbidities in Down syndrome included congenital heart disease (95%; repaired in 68%), sleep apnea (56%), prematurity (49%), recurrent respiratory exacerbations (35%), gastroesophageal reflux (38%), and aspiration (31%). Pulmonary hypertension resolved in 43% after 3 years, associated with a diagnosis of pulmonary hypertension at age <6 months (54% vs 29%; P = .002) and a pretricuspid shunt (65% vs 38%; P = .02). Five-year transplantation-free survival was 88% (95% CI, 80%-97%). Tracheostomy (hazard ratio [HR], 3.29; 95% CI, 1.61-6.69) and reflux medication use (HR, 2.08; 95% CI, 1.11-3.90) were independently associated with a composite outcome of severe pulmonary hypertension. Conclusions: Despite high rates of cardiac and respiratory comorbidities that influence the severity of pulmonary hypertension, children with Down syndrome-associated pulmonary hypertension generally have a survival rate similar to that of children with non-Down syndrome-associa

TÍTULO / TITLE:   - Congenital Heart Disease and Its Association in Children With Down Syndrome

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REVISTA / JOURNAL:    - Cureus. 2022 Sep 14;14(9):e29176. doi: 10.7759/cureus.29176. eCollection 2022 Sep.

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AUTORES / AUTHORS: - Yasir Rehman et al.

INSTITUCIÓN / INSTITUTION: - Pediatric Cardiology, Peshawar Institute of Cardiology, Peshawar, PAK. 

RESUMEN / SUMMARY: - Objective The objective is to determine the frequency of different congenital heart diseases and their association in children with Down syndrome (DS). Methodology This cross-sectional observational study was conducted in the pediatric department of Peshawar Institute of Cardiology, Peshawar, Pakistan from August 2021 to July 2022. A total of 123 children with DS and congenital heart disease (CHD) were included in this cross-sectional study. Detailed history and examination were performed, and findings were documented on performed pro forma. Diagnosis of CHD was confirmed through two-dimensional (2D) and Doppler echocardiography performed by a pediatric cardiologist. Patients were managed according to standard protocols and guidelines. The data including age, gender, mother s age at the time of birth, type of CHD and growth failure were documented and analyzed. Percentages were used to express frequencies. Results The mean age was 2.2 years ± 3.4 years (interquartile range (IQR): 10 days to 14 years). There were 65 (52.8%) male and 58 (47.1%) female patients. Out of 123 patients, 101 (82.1%) had acyanotic CHD and 22 (17.8%) had cyanotic CHD. Among acyanotic CHD, isolated ventricular septal defect (VSD) was the most common observation in 23 (22.3%) and among cyanotic CHD, tetralogy of Fallot (TOF) in seven (31.8%) patients. The most common associations of CHD were VSD+ patent ductus arteriosus (PDA) in 11 (9%) patients and atrial septal defect (ASD)+PDA in nine (7.3%) patients. The median age of the mother at delivery was 31 years (interquartile range (IQR): 20 years to 45 years). Growth failure was seen in 70 (56.9%) patients. Conclusion Based on our data, VSD is the most common CHD followed by a complete atrio-VSD (CAVSD) in children with DS. The most common association of CHD in DS is VSD with PDA. Growth failure is seen in most of the patients with DS having a CHD.

Dental - Dental

TÍTULO / TITLE:   - Characterization of the unique oral microbiome of children with Down syndrome

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REVISTA / JOURNAL:    - Sci Rep. 2022 Aug 19;12(1):14150. doi: 10.1038/s41598-022-18409-z.

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AUTORES / AUTHORS: - Chieko Mitsuhata et al.

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan. 

RESUMEN / SUMMARY: - Down syndrome creates an abnormal oral environment, including susceptibility to periodontal disease at a young age, but there are no detailed studies of the oral microbiome in children with Down syndrome. In this study, we performed a comprehensive analysis of the oral bacteria of 40 children with Down syndrome and 40 non-Down syndrome children. Microbial DNA was extracted from dental plaque specimens and the V4 hypervariable region of the bacterial 16S rRNA gene was analyzed using the MiSeq platform. There were significant differences between the Down syndrome and non-Down syndrome groups in mean numbers of operational taxonomic units, and α- and β-diversity (P < 0.05). Interestingly, significant differences in α- and β-diversity between the two groups were only observed in subjects with gingival inflammation, but not in those without gingival inflammation (P < 0.05). Taxonomic analysis at the genus or species levels showed significant differences in relative abundance levels of certain bacteria between the Down syndrome and non-Down syndrome groups, including Corynebacterium, Abiotrophia and Lautropia (P < 0.05). These results suggest that children with Down syndrome may have a unique oral microbiome that could impact the development of dental diseases common in people with the syndrome.

TÍTULO / TITLE:   - Oral health status in individuals with Down syndrome

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REVISTA / JOURNAL:    - Libyan J Med. 2022 Dec;17(1):2116794. doi: 10.1080/19932820.2022.2116794. Free PMC article

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AUTORES / AUTHORS: - Roba Elrefadi et al.

INSTITUCIÓN / INSTITUTION: - Department of Preventive and Community Dentistry, University of Benghazi, Benghazi, Libya. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a neurodevelopmental disorder of known genetic cause, with a wide array of oral and systemic manifestations. The aim of the present study is to determine the level of oral hygiene status and practice of a group of individuals with DS in Benghazi/Libya. In this cross-sectional study 124 individuals were recruited from The Rehabilitation Centre of Special Needs in the city of Benghazi, Libya. Questionnaires were distributed among the attendees, covering oral health aspects and diet habits. Oral examination was conducted to evaluate oral health status among individuals with DS. The data were analysed descriptively and inferentially (including Chi-square test and Fisher s exact test) using the Statistical Package for Social Science version 20 (SPSS). Most of DS individuals brush their teeth once daily (62%), spending less than one minute in brushing (44%). For diet habits, more than half (55%) eat sweet snacks between meals. For the dental status, 47% of the subject had zero DMFT, followed by score 2 in 21%. The highest percentage in Oral hygiene Index (OHI) was scored 1 by 46% of participants. The zero CPITN score was seen in 54.5%. Our results have shown a weaker tendency of DS towards oral hygiene. This should strengthen our goal of guiding and encouraging parents of individuals with DS to be more cautious in providing help and supervision of their individuals practice of oral health care.

TÍTULO / TITLE:   - Management of Chronic Ulcer Mimicking Oral Squamous Cell Carcinoma in Down Syndrome Child with Motoric Disorders

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REVISTA / JOURNAL:    - Int Med Case Rep J. 2022 Aug 19;15:419-424. doi: 10.2147/IMCRJ.S379798. eCollection 2022.

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AUTORES / AUTHORS: - Amira Shafuria et al

INSTITUCIÓN / INSTITUTION: - Oral Medicine Residency Program, Faculty of Dentistry, Padjadjaran University, Bandung, Indonesia. 

RESUMEN / SUMMARY: - Introduction: Down syndrome is a congenital genetic disorder caused by an error in cell division, resulting in the presence of an additional third chromosome 21. Down syndrome is one of the leading causes of intellectual disability. Millions of these patients face various health issues. This study aimed to provide information about the challenges in the management of chronic ulcer mimicking OSCC in Down Syndrome child with motoric disorders. Case: A 12-year-old boy with Down Syndrome and motoric disorders was referred to Oral Medicine Department. In the extraoral examination, the patient had a dysmorphic face and dry lips. Lymph node examination could not be assessed because the patient wore a cervical collar. The intraoral examination showed an irregular ulcer with 1×0.7 cm in diameter, indurated margin, and white-yellowish base at the right lateral border of the tongue. The 55 teeth were sharp and caused an occlusion trauma to the right lateral border of the tongue. The patient was diagnosed with a chronic traumatic ulcer mimicking OSCC based on clinical examination. The medication given to the patient were sodium chloride 0.9%, povidone-iodine mouthwash 1%, and petroleum jelly. Conclusion: Children with Down syndrome often suffer from orofacial abnormalities which can affect their oral health and their family s quality of life. Dental and oral care for Down Syndrome children with motoric disorders required some challenges and collaboration with their parents, families, and caregivers.

TÍTULO / TITLE:   - Salivary microbiome in children with Down syndrome: a case-control study

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REVISTA / JOURNAL:    - BMC Oral Health. 2022 Oct 6;22(1):438. doi: 10.1186/s12903-022-02480-z. Free PMC article

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AUTORES / AUTHORS: - Seiji Morishima et al.

INSTITUCIÓN / INSTITUTION: - The Lion Foundation for Dental Health, 1-3-7, Honjo, Sumida-ku, Tokyo, 130-8644, Japan.  

RESUMEN / SUMMARY: - Background: Down syndrome (DS), a most frequently occurring genetic disorder, is associated with oral morphological abnormalities and higher incidence rates of oral diseases. Recent studies have analyzed the oral microbiome to elucidate their relationships with oral diseases and general health; however, reports on the oral microbiome in individuals with DS are scarce. This study aimed to characterize the oral microbiome in children with DS. Methods: A total of 54 children aged 1-13 years were enrolled in this case-control study. Of these children, 27 had DS (Case: DS group) and 27 were age-matched healthy children (Control: ND group). Saliva in the oral cavity was collected with a swab, cultured, and tested for cariogenic and periodontopathic bacteria by quantitative polymerase chain reaction (qPCR) detection, and the salivary microbiome was analyzed using next-generation sequencing. The student s t-test, Fisher s exact test, Mann-Whitney U test, and permutational multivariate analysis of variance were used for statistical analysis. Results: Results of culture and qPCR detection tests for cariogenic and periodontopathic bacteria showed no significant differences in the detected bacteria between the DS and ND groups, with the exception of a significantly higher detection rate of Candida albicans in children with DS with mixed dentition. A comparison of the salivary microbiomes by 16S sequencing showed no significant difference in α diversity; however, it showed a significant difference in β diversity. Children with DS had a higher relative abundance of Corynebacterium and Cardiobacterium, and lower relative abundance of TM7. Conclusions: This study provided basic data on the salivary microbiome of children with DS and showed the microbiological markers peculiar to children with DS. However, further research to identify the relationship with oral diseases is warranted.

TÍTULO / TITLE:   - Oral Health Care of People with Down Syndrome in Germany

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Sep 29;19(19):12435. doi: 10.3390/ijerph191912435

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AUTORES / AUTHORS: - Peter Schmidt et al

INSTITUCIÓN / INSTITUTION: - Department of Special Care Dentistry, Witten/Herdecke University, 58455 Witten, Germany. 

RESUMEN / SUMMARY: - Background: Due to a dearth of information on preventive and supportive oral care for people with Down Syndrome (PDS) in Germany, caregivers of PDS were surveyed on the topic. Methods: An anonymized questionnaire was sent to the 610 members of the German Down Syndrome Association. The study was approved by the ethics committee of Witten/Herdecke University (# 165/2017). Results: The parents/caregivers of 207 PDS responded. These PDS were between 1 and 55 years old (mean age 24.4 years) and included 111 males and 96 females. At their first dental appointment, 40.7% (n = 82) had been younger than three years. Although 78.3% (n = 162) tooth brushed twice daily, only 30.9% (n = 64) brushed for 2-3 min; 84.0% (n = 135) did not use other dental hygiene products apart from toothbrushes. Age-specific differences were found: Although only 30.8% (n = 12) of PDS < 18 years (n = 39) independently performed dental self-care; this was 67.3% (n = 113) for PDS ≥ 18 years (n = 168). A statistically significant (p < 0.001; Chi-Square-Test) difference in toothbrush preferences emerged: While PDS < 18 years mainly used manual toothbrushes, PDS ≥ 18 years preferred electric toothbrushes. In contrast to 72.6% of PDS ≥ 18 years, only 51.3% of PDS < 18 years accepted most types of toothpaste. Conclusions: Age-dependent differences in tooth brushing behaviour became evident within the group of PDS in Germany. Hence, better age-specific, inter-professional dental prophylaxis concepts need to be developed and offered for all age groups of PDS. These concepts should include personalized check-up intervals and hands-on instruction in dental hygiene procedures by dental practitioners.

Dermatology - Dermatología

TÍTULO / TITLE:   - Hidradenitis suppurativa and Down syndrome in a single-centre sample: A cross-sectional study

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REVISTA / JOURNAL:    - Australas J Dermatol. 2022 Aug;63(3):e231-e237. doi: 10.1111/ajd.13872. Epub 2022 May 14.

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AUTORES / AUTHORS: - Juan-Carlos Hernndez-Rodrguez et al

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Virgen del Rocío University Hospital, Seville, Spain. 

RESUMEN / SUMMARY: - Down syndrome (DS) has been related to a higher risk of hidradenitis suppurativa (HS). This cross-sectional study assessed DS patients with HS in a Spanish single-centre sample. DS participants presented a lower age of onset, age at diagnosis and time to diagnosis. Also, DS was not associated with the severity of HS measured by baseline IHS

TÍTULO / TITLE:   - Eruptive collagenoma in a juvenile patient with Down syndrome

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REVISTA / JOURNAL:    - An Bras Dermatol. 2022 Sep-Oct;97(5):687-688. doi: 10.1016/j.abd.2020.10.026. Epub 2022 Jul 9. Free

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AUTORES / AUTHORS: - Yasunobu Kato, Toshiyuki Yamamoto

INSTITUCIÓN / INSTITUTION: - Department of Dermatology, Fukushima Medical University, Fukushima, Japan. 

RESUMEN / SUMMARY: - We report a rare case of eruptive collagenoma in an adolescent patient with Down syndrome. Further studies are necessary to elucidate the mechanism of collagenoma in association with Down syndrome.

Ear/Nasal - Otorrinolaringología

TÍTULO / TITLE:   - Observational Study to Preliminarily Characterize the Audiological Profile of Children With Down Syndrome

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REVISTA / JOURNAL:    - J Speech Lang Hear Res. 2022 Sep 30;1-9. doi: 10.1044/2022_JSLHR-22-00023. Online ahead of print.

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AUTORES / AUTHORS: - Heather Porter et al.

INSTITUCIÓN / INSTITUTION: - Center for Hearing Research, Boys Town National Research Hospital, Omaha, NE. 

RESUMEN / SUMMARY: - Purpose: Down syndrome occurs in one of 700 births, and high rates of hearing loss are reported in this population. This puts children with Down syndrome at risk for communication, learning, and social development difficulties, compounding known language and cognitive vulnerabilities in this population. The purpose of this study was to comprehensively characterize audiological profiles in children with Down syndrome, including the use of extended high-frequency sensitivity and speech intelligibility index assessment. Method: Participants were 18 children with Down syndrome between 5 and 17 years of age. Audiological profiles were characterized using behavioral audiometry, tympanometry, and wideband acoustic immittance (WAI). Audibility was characterized using the speech intelligibility index. Results: Of the participants successfully completing behavioral audiometry, hearing loss of a moderate or greater degree was observed in one or both ears for 46% of the participants at conventional audiometric test frequencies and 85% of the participants at frequencies above 8 kHz. Seven children met criteria for amplification based on the speech intelligibility index, but only two wore hearing aids. Abnormal middle ear function was found in approximately 50% of the participants for whom WAI or tympanometry were successfully measured. Conclusions: Consistent with prior research, high rates of hearing loss and middle ear dysfunction were observed. The high prevalence of hearing loss above 8 kHz suggests the importance of including extended high-frequency assessment in audiologic characterization of children with Down syndrome. Few children meeting audibility-based guidelines for amplification wore hearing aids, putting them at additional risk for speech/language and educational difficulties.

TÍTULO / TITLE:   - A Review of the Effect of Classroom Sound-Field Amplification on Children in Primary School

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REVISTA / JOURNAL:    - Am J Audiol. 2022 Jun 2;31(2):470-486. doi: 10.1044/2022_AJA-21-00240. Epub 2022 Mar 28.

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AUTORES / AUTHORS: - Kiri Mealings

INSTITUCIÓN / INSTITUTION: - Department of Linguistics, Macquarie University, North Ryde, New South Wales, Australia. 

RESUMEN / SUMMARY: - Purpose: Being able to hear the teacher clearly is an important factor for children s learning. However, classrooms often have suboptimal listening conditions. Sound-field amplification systems (SFAS) can help improve classroom listening conditions by increasing the level of the teacher s speech compared to the background noise throughout the classroom. The aim of this review article was to review the effect of SFAS on children in primary school. Method: A comprehensive search of four online databases (ERIC, PubMed, Scopus, and Web of Science) was conducted. The search terms were classroom sound-field amplification and classroom amplified distribution system. Twenty-one articles were deemed relevant for the review plus an additional six from their references. Results: Most articles were published between 1996 and 2015. Only one article was published since 2016. A range of child populations were studied including typically developing children and children with difficulties and disabilities such as hearing loss, developmental language disorders, attention-deficit/hyperactivity disorder, emotional and behavior disorders, Down syndrome, and developmental disabilities. There were several different measures that were used to evaluate the effectiveness of SFAS including speech perception assessments, language assessments, academic and comprehension assessments, classroom observations, interviews, and questionnaires. Improvements with SFAS were found for speech perception, listening comprehension and auditory analysis, language outcomes, academic outcomes, and behavior. Conclusion: SFAS can benefit children s listening and learning; however, the child s background, classroom reverberation time (limit to < 1 s), and layout and type of learning activities, especially in modern classrooms, need to be taken into consideration.

Endocrinology/Nutrition - Endocrinología/Nutrición

TÍTULO / TITLE:   - Boosting cognition with a hormone

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REVISTA / JOURNAL:    - Science. 2022 Sep 2;377(6610):1042-1043. doi: 10.1126/science.add9456. Epub 2022 Sep 1.

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AUTORES / AUTHORS: - Hanne M Hoffmann

INSTITUCIÓN / INSTITUTION: - Department of Animal Science, Michigan State University, East Lansing, MI, USA. 

RESUMEN / SUMMARY: - A hormone enhances cognition in mouse models of Alzheimer s disease and Down syndrome

TÍTULO / TITLE:   - A randomized trial comparing diet and delivery strategies for weight management in adolescents with intellectual disabilities

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REVISTA / JOURNAL:    - Pediatr Obes. 2022 Aug 21;e12972 doi: 10.1111/ijpo.12972. Online ahead of print.

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AUTORES / AUTHORS: - Lauren T Ptomey et al.

INSTITUCIÓN / INSTITUTION: - Department of Internal Medicine, The University of Kansas Medical Center, Kansas City, Kansas, USA. 

RESUMEN / SUMMARY: - Background: The literature evaluating multi-component interventions for long-term weight loss in adolescents with intellectual disabilities (ID) is extremely limited. Objectives: To compare the effectiveness of two delivery strategies, face-to-face (FTF) or remote delivery (RD), and two diets, enhanced Stop Light diet (eSLD) or conventional diet (CD) on weight change across 12 and 18 months. in response to an 18 months. weight management intervention (6 months Weight loss/12 months. Weight maintenance) in adolescents with ID. Methods: Adolescents with ID were randomized to one of three arms: FTF /CD, RD/CD, RD/eSLD and asked to attend individual education sessions with a health educator which were delivered during FTF home visits or remotely using video conferencing. The CD followed the US dietary guidelines. The eSLD utilized the Stop Light guide and was enhanced with portion-controlled meals. Participants were also asked to increase their physical activity (PA) and to self-monitor diet, PA and body weight across the 18-month. Results: Weight was obtained from 92(84%) and 89(81%) randomized adolescents at 12 and 18 months, respectively. Weight change across 12 months. Differed significantly by diet (RD/eSLD: -7.0% vs. RD/CD: -1.1%, p = 0.002) but not by delivery strategy (FTF/CD: +1.1% vs. RD/CD: -1.1%, p = 0.21). Weight change across 18 months. Was minimal in all intervention arms and did not differ by diet (RD/eSLD: -2.6% vs. RD/CD: -0.5%; p = 0.28) or delivery strategy (FTF/CD: +1.6% vs. RD/CD: -0.5%; p = 0.47). Conclusions: Additional research is required to identify effective strategies to improve long-term weight loss in adolescents with ID.

Epidemiology - Epidemiología

TÍTULO / TITLE:   - Changes in the number of babies born with Down syndrome in Japan

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REVISTA / JOURNAL:    - J Obstet Gynaecol Res. 2022 Sep;48(9):2385-2391. doi: 10.1111/jog.15342. Epub 2022 Jun 28.

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AUTORES / AUTHORS: - Yoshinobu Sugo et al.

INSTITUCIÓN / INSTITUTION: - Department of Obstetrics and Gynecology, Yokohama City University Hospital, Yokohama, Kanagawa, Japan. 

RESUMEN / SUMMARY: - The number of babies born with Down syndrome has changed in recent years because of widespread availability of prenatal screening and advanced maternal age at delivery. In Japan, which has no public institutions that record data on babies born with chromosomal abnormalities (including Down syndrome), the accurate number remains unknown. Methods: The Japan Association of Obstetricians and Gynecologists Birth Defects Monitoring Program (hereafter the JAOG Program) is the only national survey of congenital anomalies in Japan. Using data from this survey and vital statistics, we investigated the changes in the number of babies born with Down syndrome in Japan from 2006 to 2019. Results: On performing linear regression analysis with the proportion of babies born with Down syndrome as the response variable, and the proportion of mothers giving birth at the age of 35 years or older as the explanatory variable, the regression coefficient was 0.0054 (p < 0.001). The proportion of mothers giving birth at the age of 35 years or older was useful for predicting the proportion of babies born with Down syndrome. This proportion has increased since 2006 but has remained almost unchanged since 2015. In 2019, it was 1/734. Conclusions: This study revealed that the proportion of mothers giving birth at the age of 35 years or older strongly affected the proportion of babies born with Down syndrome. We assume that the proportion of babies is slightly affected by the increased number of pregnant women currently undergoing prenatal screening after the introduction of noninvasive prenatal genetic testing in 2013.

TÍTULO / TITLE:   - The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome

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REVISTA / JOURNAL:    - Medeni Med J. 2022 Sep 21;37(3):226-233. doi: 10.4274/MMJ.galenos.2022.09086. Free PMC article

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AUTORES / AUTHORS: - Elif Yilmaz Gulec, Alper Gezdirici

INSTITUCIÓN / INSTITUTION: - University of Health Sciences Turkey, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Department of Medical Genetics, Istanbul, Turkey. 

RESUMEN / SUMMARY: - Objective: Children with Down syndrome have a high incidence of major malformations and corrective surgery. Some patients do not need any surgery, while some cases are operated for several indications. There are few studies investigating the effect of maternal age on the phenotype of these children, despite the fact that increasing maternal age is a known risk factor for giving birth to Down syndrome. We aimed to investigate the incidence of surgery for major malformations and disorders in children with Down syndrome and its relationship with maternal age at birth. Methods: We revised the records of 218 children with Down syndrome for maternal age at birth and for surgical interventions. Results: There were 84 children who had at least one operation with 38.5% incidence. A total of 49 children had cardiac surgery, 16 had gastrointestinal, 17 had head and neck area, 12 had ophthalmological, 12 had genitourinary, 5 had hernia, and 2 had orthopedic surgeries. The mean maternal age was 32.7 (minimum: 15; maximum: 44), and there was no significant difference between operated and non-operated groups for mean maternal ages (32.41 and 32.93, respectively; p=0.89). For any type of surgery, there was no significant difference between the groups with maternal ages 35 and over and those under 35. Conclusions: Maternal age at birth has no effect on the incidence of malformations and the probability of operation in Down syndrome.

TÍTULO / TITLE:   - Estimation of the number of people with Down syndrome in Australia and New Zealand

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REVISTA / JOURNAL:    - Genet Med. 2022 Oct 3;S1098-3600(22)00920-0. doi: 10.1016/j.gim.2022.08.029. Online ahead of print.

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AUTORES / AUTHORS: - Gert de Graaf et al

INSTITUCIÓN / INSTITUTION: - Dutch Down Syndrome Foundation, Meppel, the Netherlands. 

RESUMEN / SUMMARY: - Purpose: Previous research estimated the effect of selective terminations on birth prevalence and population prevalence of people with Down syndrome (DS) in the United States and Europe. This study provides comparative data from Australia and New Zealand. Method: The number of live births (LBs) with DS-in the absence of DS-related terminations of pregnancy-was estimated on the maternal age distribution in the general population. Actual LBs were modeled on registry data. We applied constructed survival curves to annual LBs to predict population numbers. Results: For 2016-2020, we estimated 265 annual LBs with DS (1 in 1158) in Australia and 41 annual LBs (1 in 1450) in New Zealand. For this period, the reduction percentage-the net result of DS-related terminations on LB prevalence-was estimated at 66% for Australia, 71% for New Zealand, 62% for Europe (excluding the former East Bloc), and only 32% for the United States. Conclusion: The total population of people with DS has been decreasing since 2000 in Europe (West Bloc) and 2011 in New Zealand owing, in large part, to increased selective terminations. By contrast, the population continues to increase, as of 2020, in Australia and the United States.

Gastroenterology - Gastroenterología

TÍTULO / TITLE:   - IgA Deficiency Is Not Systematically Ruled Out in Patients Undergoing Celiac Disease Testing

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REVISTA / JOURNAL:    - Dig Dis Sci. 2022 Apr;67(4):1238-1243. doi: 10.1007/s10620-021-06939-x. Epub 2021 Mar 26.

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AUTORES / AUTHORS: - Ezequiel Nazario et al.

INSTITUCIÓN / INSTITUTION: - Gastroenterology Department, Hospital Británico de Buenos Aires, Perdriel 74 (1012), Buenos Aires, Argentina. 

RESUMEN / SUMMARY: - Background: Guidelines for celiac disease (CD) testing recommend total serum IgA determination alongside anti-transglutaminase IgA antibodies. It is not well known if lack of serum IgA determination is a common finding in clinical practice. Aim: To determine the prevalence of lack of serum IgA determination among patients screened for celiac disease. Materials and methods: We identified all subjects who underwent serum anti-transglutaminase IgA and/or other CD-related antibodies determination at a single teaching hospital in Buenos Aires from October 2019 to February 2020. Medical records were reviewed to select adult patients who were tested for celiac disease. The primary outcome was the proportion of patients with inadequate testing for celiac disease due to lack of serum IgA determination. We retrieved the following variables from each patient s record: age, gender, body mass index, symptoms present at screening, first-grade family history of CD, history of type-1 diabetes mellitus, autoimmune hypothyroidism, Down s syndrome. Results: Overall, 1122 patients were included for analysis. Lack of serum IgA determination prevalence was 20.49%. Among patients who did have serum IgA determination, the prevalence of IgA deficiency was 5.16%. The following variables were independently associated with a significantly increased odds of serum IgA determination: diarrhea [OR 1.55 (1.01-2.34)] and abdominal pain [OR 2.28 (1.44-3.63)]; higher body mass index [OR 0.91 (0.85-0.98)], osteoporosis [OR 0.49 (0.28-0.89)], hypothyroidism [OR 0.18 (0.07-0.45)], arthralgia/arthritis [OR 0.47 (0.27-0.85)], or testing by endocrinologist [OR 0.46 (0.23-0.91)] and gynecologist [OR 0.14 (0.06-0.31)] were inversely associated. Conclusion: IgA deficiency is not systematically ruled out in a relatively high proportion of patients undergoing serological screening of celiac disease.

Genetics - Genética

TÍTULO / TITLE:   - Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models

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REVISTA / JOURNAL:    - Cell Rep. 2022 Sep 6;40(10):111312. doi: 10.1016/j.celrep.2022.111312. Free PMC article

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AUTORES / AUTHORS: - Sara G Susco

INSTITUCIÓN / INSTITUTION: - Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; 

RESUMEN / SUMMARY: - Down syndrome (DS), driven by an extra copy of chromosome 21 (HSA21), and fragile X syndrome (FXS), driven by loss of the RNA-binding protein FMRP, are two common genetic causes of intellectual disability and autism. Based upon the number of DS-implicated transcripts bound by FMRP, we hypothesize that DS and FXS may share underlying mechanisms. Comparing DS and FXS human pluripotent stem cell (hPSC) and glutamatergic neuron models, we identify increased protein expression of select targets and overlapping transcriptional perturbations. Moreover, acute upregulation of endogenous FMRP in DS patient cells using CRISPRa is sufficient to significantly reduce expression levels of candidate proteins and reverse 40% of global transcriptional perturbations. These results pinpoint specific molecular perturbations shared between DS and FXS that can be leveraged as a strategy for target prioritization; they also provide evidence for the functional relevance of previous associations between FMRP targets and disease-implicated genes.

TÍTULO / TITLE:   - Susceptibility to chromosome instability and occurrence of the regular form of Down syndrome in young couples

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REVISTA / JOURNAL:    - Mutat Res Genet Toxicol Environ Mutagen. 2022 Sep;881:503511. doi:10.1016/j.mrgentox.2022.503511.

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AUTORES / AUTHORS: - Ana Vicic, Feodora Stipoljev

INSTITUCIÓN / INSTITUTION: - Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital -Sveti Duh-, Sveti Duh 64, HR-10000 Zagreb, Croatia 

RESUMEN / SUMMARY: - Although the risk of pregnancy with Down syndrome (DS) increases with age, conceptions with trisomy 21 can occur in mothers aged 35 or less. The micronucleus test on peripheral blood lymphocytes is a well-recognized method for studying chromosomal instability. The aim of this study was to evaluate the application of the micronucleus assay and fluorescence in situ hybridization (FISH) for estimation of chromosome instability and occurrence of trisomy 21 in young parents having pregnancy or a child with the regular form of Down syndrome. The study included 54 parents (27 couples) who had previous pregnancy with trisomy 21 at age 35 or less. The control group consisted of 30 couples with two healthy children and no previous spontaneous abortions. Parents with trisomy 21 pregnancy had significantly higher frequencies of micronuclei in binucleated cells. There was no statistically significant difference between the study and control groups in the frequencies of micronuclei in mononuclear cells, nuclear buds, or nucleoplasmic bridges. FISH analysis showed higher percentages of micronuclei containing whole chromosomes as well as statistically significant higher numbers of micronuclei containing chromosome 21 in the peripheral blood of DS parents. There was no statistically significant difference between the two groups in the responses of peripheral blood lymphocytes to treatment with the mutagen mitomycin C. Our results suggest that young parents with a history of the regular form of Down syndrome have a higher susceptibility to chromosome nondisjunction in peripheral blood lymphocytes. The micronucleus assay showed high specificity, but moderate sensitivity, for risk assessment of trisomy 21 pregnancy.

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

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

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AUTORES / AUTHORS: - Chiara Locatelli et al

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

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

TÍTULO / TITLE:   - Chromosome silencing in vitro reveals trisomy 21 causes cell-autonomous deficits in angiogenesis and early dysregulation in Notch signaling

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REVISTA / JOURNAL:    - Cell Rep. 2022 Aug 9;40(6):111174. doi: 10.1016/j.celrep.2022.111174. Free PMC article

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AUTORES / AUTHORS: - Jennifer E Moon, Jeanne B Lawrence

INSTITUCIÓN / INSTITUTION: - Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA. 

RESUMEN / SUMMARY: - Despite the prevalence of Down syndrome (DS), little is known regarding the specific cell pathologies that underlie this multi-system disorder. To understand which cell types and pathways are more directly affected by trisomy 21 (T21), we used an inducible-XIST system to silence one chromosome 21 in vitro. T21 caused the dysregulation of Notch signaling in iPSCs, potentially affecting cell-type programming. Further analyses identified dysregulation of pathways important for two cell types: neurogenesis and angiogenesis. Angiogenesis is essential to many bodily systems, yet is understudied in DS; therefore, we focused next on whether T21 affects endothelial cells. An in vitro assay for microvasculature formation revealed a cellular pathology involving delayed tube formation in response to angiogenic signals. Parallel transcriptomic analysis of endothelia further showed deficits in angiogenesis regulators. Results indicate a direct cell-autonomous impact of T21 on endothelial function, highlighting the importance of angiogenesis, with wide-reaching implications for development and disease progression.

Gynecology - Ginecología

TÍTULO / TITLE:   - Qualitative Focus Groups with Professionals of Special Education and Parents of Young Females with Intellectual Disability Exploring Experiences with Menstrual Hygiene Management and the Trigger for t

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REVISTA / JOURNAL:    - Healthcare (Basel). 2022 Sep 4;10(9):1690. doi: 10.3390/healthcare10091690. Free PMC article

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AUTORES / AUTHORS: - Maria Del Rosario Flores-Medina et al

INSTITUCIÓN / INSTITUTION: - Medical Research Unit in Clinical Epidemiology, National Health Research Council, Mexican Institute of Social Security, Mexico City 06720, Mexico 

RESUMEN / SUMMARY: - How primary carers, physicians, health education professionals, and others see or understand the subject of menstruation in women with intellectual disability (ID) is rooted in the socio-cultural context and in the socio-economic structures in which all of them live. The aim of this study was to explore how parents of young females with ID and special education professionals perceive and experience menstrual hygiene management, which coping strategies are applied; and what triggers the performance of a hysterectomy. A qualitative focus group study design was conducted with 69 parents and 11 special education professionals, in 14 schools and one Down syndrome clinic, in Mexico City. Data were analysed using the method of thematic analysis. The main concern of parents was how to cope with the underlying disease. They perceived menstrual bleeding positively. Their psychological distress had to do with the reproductive health of their daughters, with their wish to avoid pregnancy, and with their fear of death and leaving their daughters alone and helpless without them. None of them favoured hysterectomy. Medical indication of hysterectomy was identified as the trigger for its performance. There is an urgent need of policy development/review on best practices for hysterectomy in the females in question.

Hematology/Oncology - Hematología/Oncología

TÍTULO / TITLE:   - Blood cytology in children with down syndrome

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REVISTA / JOURNAL:    - BMC Pediatr. 2022 Jul 2;22(1):387. doi: 10.1186/s12887-022-03450-8. Free PMC article

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AUTORES / AUTHORS: - Silvestre Garca de la Puente

INSTITUCIÓN / INSTITUTION: - Department of Research Methodology, National Institute of Pediatrics, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Alcaldía Coyoacán, 04530, México City, CDMX, Mexico.  

RESUMEN / SUMMARY: - Introduction: Down syndrome is associated with various congenital anomalies and metabolic alterations such as hematological alterations. Values for the major hematological indicators vary with age and sex, but these values have not been described for Mexican children with Down syndrome. Objective: To describe the complete blood count (CBC) values of pediatric patients with Down syndrome in México and report the most common non-malignant hematological alterations. Materials and methods: The analysis includes data from 450 patients with Down syndrome, 55.5% ware males, aged 0-18 years who were patients at the Mexican National Institute of Pediatrics and whose clinical charts included CBC panel results for the period January 2008 through March 2018. Results: A total of 3438 CBC panels were analyzed with descriptive statistics to find the values and statistical dispersion of the major indicators, with percentiles, and reported separately by sex and age group. The most common non-malignant hematological alterations found were macrocytic anemia, leukopenia, lymphopenia, and thrombocytosis. There were differences in values in all three series. Conclusions: The CBC panels and hematological alterations are summarized for patients with Down syndrome.

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

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2022 Oct;69(10):e29662. doi: 10.1002/pbc.29662. Epub 2022 Mar 16.

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AUTORES / AUTHORS: - Sophie Timmis et al

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

RESUMEN / SUMMARY: -

TÍTULO / TITLE:   - Why Is Health Care for Children with Down Syndrome So Crucial from the First Days of Life? A Retrospective Cohort Study Emphasized Transient Abnormal Myelopoiesis (TAM) Syndrome at Three Centers

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REVISTA / JOURNAL:    - Int J Environ Res Public Health. 2022 Aug 8;19(15):9774. doi: 10.3390/ijerph19159774. Free PMC arti

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AUTORES / AUTHORS: - Gabriela Telman et al

INSTITUCIÓN / INSTITUTION: - Department of Pediatric Oncology, Hematology and Transplantology, Poznan University of Medical Sciences, Szpitalna Street 27/33, 60-572 Poznań, Poland. 

RESUMEN / SUMMARY: - Down syndrome (DS) is a common genetic disorder and is associated with an increased likelihood of many diseases, including defects of the heart, genitourinary system, gastrointestinal tract, and oncological diseases. The aim of this study was to analyze medical problems occurring in newborns with DS and to create a basic diagnostic and therapeutic algorithm intended primarily for neonatologists, pediatricians, family physicians, and physicians of other specialties caring for children with DS. Over a 5-year period, the medical records of 161 neonates with Down syndrome from four neonatology departments in Poznan, Poland, were examined. After applying exclusion criteria, 111 patients were analyzed. Data obtained from medical history included sex, week of gestation, birth weight, APGAR score, clinical symptoms, peripheral blood count with smear, and clinical features such as jaundice, hemorrhagic diathesis, ascites, hepato- or splenomegaly, pericardial or pleural effusion, respiratory failure, and other rare transient signs of abnormal myelopoiesis: fetal edema, hepatic fibrosis, renal failure, and rush. In the study group, 8% of children with Down syndrome were diagnosed with a heart and 1.8% with a genitourinary defect. Transient abnormal myelopoiesis syndrome (Transient abnormal myelopoiesis (TAM)) was found in 10% of newborns with DS. A blood count with blood smear, cardiology consultation with echocardiography, and an abdominal ultrasound should be performed in the first few days after birth in all newborns with Down syndrome. If this is not possible and the child s condition is stable, these tests can be performed within 2-3 months after birth.

TÍTULO / TITLE:   - Advances in molecular characterization of myeloid proliferations associated with Down syndrome

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REVISTA / JOURNAL:    - Front Genet. 2022 Aug 10;13:891214. doi: 10.3389/fgene.2022.891214. eCollection 2022. Free PMC arti

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AUTORES / AUTHORS: - Jixia Li, Maggie L Kalev-Zylinska

INSTITUCIÓN / INSTITUTION: - Blood and Cancer Biology Laboratory, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand 

RESUMEN / SUMMARY: - Myeloid leukemia associated with Down syndrome (ML-DS) has a unique molecular landscape that differs from other subtypes of acute myeloid leukemia. ML-DS is often preceded by a myeloproliferative neoplastic condition called transient abnormal myelopoiesis (TAM) that disrupts megakaryocytic and erythroid differentiation. Over the last two decades, many genetic and epigenetic changes in TAM and ML-DS have been elucidated. These include overexpression of molecules and micro-RNAs located on chromosome 21, GATA1 mutations, and a range of other somatic mutations and chromosomal alterations. In this review, we summarize molecular changes reported in TAM and ML-DS and provide a comprehensive discussion of these findings. Recent advances in the development of CRISPR/Cas9-modified induced pluripotent stem cell-based disease models are also highlighted. However, despite significant progress in this area, we still do not fully understand the pathogenesis of ML-DS, and there are no targeted therapies. Initial diagnosis of ML-DS has a favorable prognosis, but refractory and relapsed disease can be difficult to treat; therapeutic options are limited in Down syndrome children by their stronger sensitivity to the toxic effects of chemotherapy. Because of the rarity of TAM and ML-DS, large-scale multi-center studies would be helpful to advance molecular characterization of these diseases at different stages of development and progression.

TÍTULO / TITLE:   - Multi-institutional analysis of central nervous system germ cell tumors in patients with Down syndrome

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2022 Oct;69(10):e29830. doi: 10.1002/pbc.29830. Epub 2022 Jun 10.

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AUTORES / AUTHORS: - Micah K Harris et al

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

RESUMEN / SUMMARY: - Purpose: Primary germ cell tumors (GCTs) are the most common central nervous system (CNS) neoplasm in patients with Down syndrome (DS). However, a standard of care has not been established due to paucity of data. Methods: A retrospective multi-institutional analysis was conducted, in addition to a comprehensive review of the literature. Results: Ten patients from six institutions (five USA, one Brazil) were identified, in addition to 31 patients in the literature from 1975 to 2021. Of the 41 total patients (mean age 9.9 years; 61% male), 16 (39%) had non-germinomatous germ cell tumors (NGGCTs), 16 (39%) had pure germinomas, and eight (19.5%) had teratomas. Basal ganglia was the most common tumor location (n = 13; 31.7%), followed by posterior fossa (n = 7; 17%). Nine patients (22%) experienced disease relapse or progression, of which four died from tumor progression (one germinoma, three teratomas). Sixteen patients (39%) experienced treatment-related complications, of which eight (50%) died (five germinomas, three NGGCTs). Of the germinoma patients, two died from chemotherapy-related sepsis, one from postsurgery cardiopulmonary failure, one from pneumonia, and one from moyamoya following radiation therapy (RT). Of the NGGCT patients, one died from chemotherapy-related sepsis, one from postsurgical infection, and one from pneumonia following surgery/chemotherapy/RT. Three-year overall survival was 66% for all histological types: 62% germinomas, 79% for NGGCTs, and 53% for teratomas. Conclusion: Patients with DS treated for CNS GCTs are at an increased risk of treatment-related adverse events. A different therapeutic approach may need to be considered to mitigate treatment-related complications and long-term neurocognitive sequelae.

TÍTULO / TITLE:   - Thrombotic Microangiopathy Due to Progressive Disseminated Histoplasmosis in a Child With Down Syndrome and Acute

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2022 Sep 22. doi: 10.1097/MPH.0000000000002556. Online ahead of print.

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AUTORES / AUTHORS: - Brittany A Cowfer et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center and Monroe Carell Jr. Children s Hospital at Vanderbilt, Nashville, TN. 

RESUMEN / SUMMARY: - Histoplasmosis, a common mycosis in the south-central United States, may be life threatening in immunocompromised patients. We describe a 4-year-old female with Down syndrome and acute lymphoblastic leukemia who developed hemolytic anemia, thrombocytopenia, and renal failure, consistent with thrombotic microangiopathy. Bone marrow biopsy revealed non-necrotizing granulomas with GMS staining demonstrating budding yeast. Serum Histoplasma antigen testing was positive, providing further evidence for the diagnosis of progressive disseminated histoplasmosis. Treatment with amphotericin B, plasma exchange, and ventilator, vasopressor, and renal replacement support led to a full recovery. Providers should have a low threshold for histoplasmosis testing in ill immunocompromised patients, who are at greater risk for infection-related morbidity.

TÍTULO / TITLE:   - A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome

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REVISTA / JOURNAL:    - Pediatr Blood Cancer. 2022 Nov;69(11):e29866. doi: 10.1002/pbc.29866. Epub 2022 Jul 11.

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AUTORES / AUTHORS: - Ricardo Camargo et al.

INSTITUCIÓN / INSTITUTION: - Laboratório de Pesquisa Translacional, Hospital da Criança de Brasília José Alencar, Brasília, Brazil. 

RESUMEN / SUMMARY: - Patients with Down syndrome (DS) are commonly affected by a pre-leukemic disorder known as transient abnormal myelopoiesis (TAM). This condition usually undergoes spontaneous remission within the first 2 months after birth; however, in children under 5, 20%-30% of cases evolve to myeloid leukemia of Down syndrome (ML-DS). TAM and ML-DS are caused by co-operation between trisomy 21 and acquired mutations in the GATA1 gene. Currently, only next-generation sequencing (NGS)-based methodologies are sufficiently sensitive for diagnosis in samples with small GATA1 mutant clones (≤10% blasts). Alternatively, this study presents research on a new, fast, sensitive, and inexpensive high-resolution melting (HRM)-based diagnostic approach that allows the detection of most cases of GATA1 mutations, including silent TAM. The algorithm first uses flow cytometry for blast count, followed by HRM and Sanger sequencing to search for mutations on exons 2 and 3 of GATA1. We analyzed 138 samples of DS patients: 110 of asymptomatic neonates, 10 suspected of having TAM, and 18 suspected of having ML-DS. Our algorithm enabled the identification of 33 mutant samples, among them five cases of silent TAM (5/110) and seven cases of ML-DS (7/18) with blast count ≤10%, in which GATA1 alterations were easily detected by HRM. Depending on the type of genetic variation and its location, our methodology reached sensitivity similar to that obtained by NGS (0.3%) at a considerably reduced time and cost, thus making it accessible worldwide.

TÍTULO / TITLE:   - -TAM-ing of the shrew-challenges in the diagnosis of Neonatal leukemia with Down s syndrome -A case report with literature review

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REVISTA / JOURNAL:    - Indian J Pathol Microbiol. 2022 Jul-Sep;65(3):699-701. doi: 10.4103/ijpm.ijpm_731_21.

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AUTORES / AUTHORS: - Srijanaki Manohar, Niveditha Jayakumar

INSTITUCIÓN / INSTITUTION: - Department of Pathology, Government Sivagangai Medical College, Sivagangai, Tamil Nadu, India. 

RESUMEN / SUMMARY: - The latest WHO (2017) classification describes the hematological abnormalities of Down s syndrome as a separate entity under Myeloid proliferations associated with Down s syndrome . It includes Transient Abnormal Myelopoiesis and Myeloid leukemia of Down s syndrome. Here we report a case of a 3 days old neonate with Down s syndrome, presenting with a leukemic blood picture. The baby had icterus, fever and hepatosplenomagaly. Peripheral blood showed megakaryoblasts and giant platelets. A diagnosis of transient abnormal myelopoiesis was made by confirming with karyotyping and immunophenotyping. We attempt to address all the diagnostic challenges faced by a clinician and pathologist same, upon encountering such a case,by following an algorithmic approach. The mandatory need for follow up and cytogenetic studies in identifying high risk cases that will become myeloid leukemia of Down s syndrome are stressed. Our case also throws light upon the significance of identification of GATA1 mutation in diagnosing and prognostication of such cases.

TÍTULO / TITLE:   - Neutropenia and Infection Prophylaxis in Childhood Cancer

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REVISTA / JOURNAL:    - Curr Oncol Rep. 2022 Jun;24(6):671-686. doi: 10.1007/s11912-022-01192-5. Epub 2022 Mar 1. Free PMC

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AUTORES / AUTHORS: - Stephanie Villeneuve, Catherine Aftandilian

INSTITUCIÓN / INSTITUTION: - Paediatric Haemotology/Oncology, Dalhousie University and the IWK Health Centre, 5850/5980 University Avenue, Halifax, NS, B3K 6R8, Canada 

RESUMEN / SUMMARY: - Purpose of review: Pediatric oncology patients frequently experience episodes of prolonged neutropenia which puts them at high risk for infection with significant morbidity and mortality. Here, we review the data on infection prophylaxis with a focus on both pharmacologic and ancillary interventions. This review does not include patients receiving hematopoietic stem cell transplantation. Recent findings: Patients with hematologic malignancies are at highest risk for infection. Bacterial and fungal prophylaxis decrease the risk of infection in certain high-risk groups. Ancillary measures such as ethanol locks, chlorhexidine gluconate baths, GCSF, IVIG, and mandatory hospitalization do not have enough data to support routine use. There is limited data on risk of infection and role of prophylaxis in patients receiving immunotherapy and patients with solid tumors. Patients with Down syndrome and adolescent and young adult patients may benefit from additional supportive care measures and protocol modifications. Consider utilizing bacterial and fungal prophylaxis in patients with acute myeloid leukemia or relapsed acute lymphoblastic leukemia. More research is needed to evaluate other supportive care measures and the role of prophylaxis in patients receiving immunotherapy.

TÍTULO / TITLE:   - A phase III clinical trial evaluating efficacy and safety of minimal residual disease-based risk stratification for children with acute myeloid leukemia, incorporating a randomized study of gemtuzumab

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REVISTA / JOURNAL:    - Jpn J Clin Oncol. 2022 Oct 6;52(10):1225-1231. doi: 10.1093/jjco/hyac105.

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AUTORES / AUTHORS: - Daisuke Tomizawa et al

INSTITUCIÓN / INSTITUTION: - Division of Leukemia and Lymphoma, Children s Cancer Center, National Center for Child Health and Development, Tokyo, Japan. 

RESUMEN / SUMMARY: - The purpose of this study is to establish a treatment with appropriate intensity for children (<16 years old at diagnosis) with de novo acute myeloid leukemia (excluding acute promyelocytic leukemia and myeloid leukemia associated with Down syndrome) according to a risk stratification based on recurrent leukemic cytogenetic abnormalities and flow-cytometric minimal residual disease at end of initial induction chemotherapy and to validate the safety and efficacy of gemtuzumab ozogamicin (GO)-combined post-induction chemotherapy for the non-low-risk (non-LR) patients. The primary endpoint of this phase III study is three-year disease-free survival rate, which will be compared between the GO and non-GO arms of the non-LR (intermediate-risk and high-risk [HR]) patients. All HR patients will be allocated to allogeneic hematopoietic stem cell transplantation in first remission. This trial has been registered at the Japan Registry of Clinical Trials (jRCTs041210015).

TÍTULO / TITLE:   - Sex differences in childhood cancer risk among children with major birth defects: a Nordic population-based nested case-control study

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REVISTA / JOURNAL:    - Int J Epidemiol. 2022 Sep 30;dyac192. doi: 10.1093/ije/dyac192. Online ahead of print.

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AUTORES / AUTHORS: - Dagrun Sletteb Daltveit et al

INSTITUCIÓN / INSTITUTION: - Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway. 

RESUMEN / SUMMARY: - Background: Childhood cancer is more common among children with birth defects, suggesting a common aetiology. Whether this association differs by sex is unclear. Methods: We performed a population-based nested case-control study using nationwide health registries in four Nordic countries. We included 21 898 cancer cases (0-19 years) and 218 980 matched population controls, born 1967-2014. Associations between childhood cancer and major birth defects were calculated as odds ratios (ORs) with 95% confidence intervals (CIs) using logistic regression models. Effect modification was evaluated using a counterfactual framework to estimate confidence intervals and P-values for the natural indirect effects. Results: Birth defects were present for 5.1% (1117/21 898) of childhood cancer cases and 2.2% (4873/218 980) of controls; OR of cancer was higher for chromosomal (OR = 10, 95% CI = 8.6-12) than for non-chromosomal defects (OR = 1.9, 95% CI = 1.8-2.1), strongest between genetic syndromes/microdeletion and renal tumours, Down syndrome and leukaemia, and nervous system defects and central nervous system tumours. The association between birth defects and cancer was stronger among females (OR = 2.8, 95% CI = 2.6-3.1) than males (OR = 2.1, 95% CI = 1.9-2.2, Pinteraction <0.001). Male sex was an independent risk factor for childhood cancer, but very little of the overall association between sex and childhood cancer was mediated through birth defects (4.8%, PNIE <0.001), although more at younger ages (10% below years and 28% below 1 year). Conclusions: The birth defect-cancer associations were generally stronger among females than males. Birth defects did not act as a strong mediator for the modest differences in childhood cancer risk by sex, suggesting that other biological pathways are involved.

Infectious diseases - Infecciones

TÍTULO / TITLE:   - COVID-19 infection and Down syndrome-challenges and future directions for care in children

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REVISTA / JOURNAL:    - Neurol Sci. 2022 Sep;43(9):5181-5182. doi: 10.1007/s10072-022-06238-x. Epub 2022 Jun 29. Free PMC a

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AUTORES / AUTHORS: - Kaushambi Chauhan et al.

INSTITUCIÓN / INSTITUTION: - School of Chemical & Life Sciences, Jamia Hamdard, Delhi, India. 

RESUMEN / SUMMARY: - We have read with immense interest the article entitled “COVID-19 in patients with Down Syndrome” by Emami et al. [1]. We thank the authors for their valuable contributions regarding directing more care to those with Down syndrome. However, the article fails to provide insight on how we can specifically help children in the post-lockdown era. Children with DS are prone to develop COVID-19 infection due to multiple factors: 1. Pro-inflammatory status —2. Unique genetics —3. Prone to intubation and death — 4. Response to vaccination. Beyond physical health, strict social distancing measures and the lockdown have disproportionately affected children with DS psychosocially as they have been deprived of going to their usual therapeutic settings and school environment. Social interaction continues to be crucial for children with DS, even after the pandemic, as sudden changes in routine can increase their level of anxiety and worsen their behavioural issues especially when curtailing their limited freedoms. It is imperative to work on the physical, psychosocial and mental well-being of children with DS. Healthy lifestyle and immunization with influenza and pneumococcal vaccines are recommended along with teaching them hand hygiene. Thus, it is important to understand and shield both children with DS who were not included in the UK shielding list and US Centre for Disease Control (CDC) list of “increased risk” which was followed in the majority of developing nations. It is imperative to implement novel teleconsultation and tele-rehabilitation strategies along with providing enough state-sponsored financial, emotional and supportive assistance to the caregivers and family members of children and adults with DS. 1.-Emami A, Javanmardi F, Akbari A, Asadi-Pooya AA. COVID-19 in patients with Down syndrome. Neurol Sci. 2021;42(5):1649–1652. doi: 10.1007/s10072-021-05091-8. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

TÍTULO / TITLE:   - COVID-19 infection and Down syndrome-challenges and future directions for care in children

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REVISTA / JOURNAL:    - Neurol Sci. 2022 Sep;43(9):5181-5182. doi: 10.1007/s10072-022-06238-x. Epub 2022 Jun 29.

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AUTORES / AUTHORS: - Kaushambi Chauhan et al.

INSTITUCIÓN / INSTITUTION: - School of Chemical & Life Sciences, Jamia Hamdard, Delhi, India. 

RESUMEN / SUMMARY: - We have read with immense interest the article entitled -COVID-19 in patients with Down Syndrome- by Emami et al. [1]. We thank the authors for their valuable contributions regarding directing more care to those with Down syndrome. However, the article fails to provide insight on how we can specifically help children in the post-lockdown era. Children with DS are prone to develop COVID-19 infection due to multiple factors: 1. Pro-inflammatory status —2. Unique genetics —3. Prone to intubation and death — 4. Response to vaccination. Beyond physical health, strict social distancing measures and the lockdown have disproportionately affected children with DS psychosocially as they have been deprived of going to their usual therapeutic settings and school environment. Social interaction continues to be crucial for children with DS, even after the pandemic, as sudden changes in routine can increase their level of anxiety and worsen their behavioural issues especially when curtailing their limited freedoms. It is imperative to work on the physical, psychosocial and mental well-being of children with DS. Healthy lifestyle and immunization with influenza and pneumococcal vaccines are recommended along with teaching them hand hygiene. Thus, it is important to understand and shield both children with DS who were not included in the UK shielding list and US Centre for Disease Control (CDC) list of -increased risk- which was followed in the majority of developing nations. It is imperative to implement novel teleconsultation and tele-rehabilitation strategies along with providing enough state-sponsored financial, emotional and supportive assistance to the caregivers and family members of children and adults with DS. 1.-Emami A, Javanmardi F, Akbari A, Asadi-Pooya AA. COVID-19 in patients with Down syndrome. Neurol Sci. 2021;42(5):1649–1652. doi: 10.1007/s10072-021-05091-8. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

TÍTULO / TITLE:   - COVID-19 infection and Down syndrome-challenges and future directions for care in children

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REVISTA / JOURNAL:    - Neurol Sci. 2022 Sep;43(9):5181-5182. doi: 10.1007/s10072-022-06238-x. Epub 2022 Jun 29.

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AUTORES / AUTHORS: - Kaushambi Chauhan et al.

INSTITUCIÓN / INSTITUTION: - School of Chemical & Life Sciences, Jamia Hamdard, Delhi, India. 

RESUMEN / SUMMARY: - We have read with immense interest the article entitled -COVID-19 in patients with Down Syndrome- by Emami et al. [1]. We thank the authors for their valuable contributions regarding directing more care to those with Down syndrome. However, the article fails to provide insight on how we can specifically help children in the post-lockdown era. Children with DS are prone to develop COVID-19 infection due to multiple factors: 1. Pro-inflammatory status —2.Unique genetics —3.Prone to intubation and death — 4.Response to vaccination. Beyond physical health, strict social distancing measures and the lockdown have disproportionately affected children with DS psychosocially as they have been deprived of going to their usual therapeutic settings and school environment. Social interaction continues to be crucial for children with DS, even after the pandemic, as sudden changes in routine can increase their level of anxiety and worsen their behavioural issues especially when curtailing their limited freedoms. It is imperative to work on the physical, psychosocial and mental well-being of children with DS. Healthy lifestyle and immunization with influenza and pneumococcal vaccines are recommended along with teaching them hand hygiene. Thus, it is important to understand and shield both children with DS who were not included in the UK shielding list and US Centre for Disease Control (CDC) list of -increased risk- which was followed in the majority of developing nations. It is imperative to implement novel teleconsultation and tele-rehabilitation strategies along with providing enough state-sponsored financial, emotional and supportive assistance to the caregivers and family members of children and adults with DS. 1.-Emami A, Javanmardi F, Akbari A, Asadi-Pooya AA. COVID-19 in patients with Down syndrome. Neurol Sci. 2021;42(5):1649–1652 doi: 10.1007/s10072-021-05091-8. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

TÍTULO / TITLE:   - COVID-19 infection and Down syndrome-challenges and future directions for care in children

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REVISTA / JOURNAL:    - Neurol Sci. 2022 Sep;43(9):5181-5182. doi: 10.1007/s10072-022-06238-x. Epub 2022 Jun 29.

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AUTORES / AUTHORS: - Kaushambi Chauhan et al.

INSTITUCIÓN / INSTITUTION: - School of Chemical & Life Sciences, Jamia Hamdard, Delhi, India. 

RESUMEN / SUMMARY: - We have read with immense interest the article entitled -COVID-19 in patients with Down Syndrome- by Emami et al. [1]. We thank the authors for their valuable contributions regarding directing more care to those with Down syndrome. However, the article fails to provide insight on how we can specifically help children in the post-lockdown era. Children with DS are prone to develop COVID-19 infection due to multiple factors: 1. Pro-inflammatory status -2.Unique genetics -3.Prone to intubation and death -4.Response to vaccination. Beyond physical health, strict social distancing measures and the lockdown have disproportionately affected children with DS psychosocially as they have been deprived of going to their usual therapeutic settings and school environment. Social interaction continues to be crucial for children with DS, even after the pandemic, as sudden changes in routine can increase their level of anxiety and worsen their behavioural issues especially when curtailing their limited freedoms. It is imperative to work on the physical, psychosocial and mental well-being of children with DS. Healthy lifestyle and immunization with influenza and pneumococcal vaccines are recommended along with teaching them hand hygiene. Thus, it is important to understand and shield both children with DS who were not included in the UK shielding list and US Centre for Disease Control (CDC) list of -increased risk- which was followed in the majority of developing nations. It is imperative to implement novel teleconsultation and tele-rehabilitation strategies along with providing enough state-sponsored financial, emotional and supportive assistance to the caregivers and family members of children and adults with DS. 1.-Emami A, Javanmardi F, Akbari A, Asadi-Pooya AA. COVID-19 in patients with Down syndrome. Neurol Sci. 2021;42(5):1649–1652 doi: 10.1007/s10072-021-05091-8. [PMC free article] [PubMed] [CrossRef] [Google Scholar]

TÍTULO / TITLE:   - Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey

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REVISTA / JOURNAL:    - J Glob Health. 2022 Aug 8;12:05035. doi: 10.7189/jogh.12.05035.

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AUTORES / AUTHORS: - Halder Pinku et al

INSTITUCIÓN / INSTITUTION: - Cytogenetics and Genomics Research Unit, Department of Zoology, University of Calcutta, Kolkata, West Bengal, India. 

RESUMEN / SUMMARY: - Background: People with Down syndrome (DS) are one of the highest risk groups for mortality associated with COVID-19, but outcomes may differ across countries due to different co-morbidity profiles, exposures, and societal practices, which could have implications for disease management. This study is designed to identify differences in clinical presentation, severity, and treatment of COVID-19 between India and several high-income countries (HICs). Methods: We used data from an international survey to examine the differences in disease manifestation and management for COVID-19 patients with DS from India vs HIC. De-identified survey data collected from April 2020 to August 2021 were analysed. Results: COVID-19 patients with DS from India were on average nine years younger than those from HICs. Comorbidities associated with a higher risk for severe COVID-19 were more frequent among the patients from India than from HICs. Hospitalizations were more frequent among patients from India as were COVID-19-related medical complications. Treatment strategies differed between India and HICs, with more frequent use of antibiotics in India. The average severity score of 3.31 was recorded for Indian DS in contrast to 2.3 for European and 2.04 for US cases. Conclusions: Presentation and outcomes of COVID-19 among individuals with DS were more severe for patients from India than for those from HIC. Global efforts should especially target vaccination campaigns and other risk-reducing interventions for individuals with DS from low-income countries.

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

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REVISTA / JOURNAL:    - : Child Youth Serv Rev. 2022 Feb;133:106325. doi: 10.1016/j.childyouth.2021.106325. Epub 2021 Dec 2

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AUTORES / AUTHORS: - S elik et al

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

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

TÍTULO / TITLE:   - Thrombotic Microangiopathy Due to Progressive Disseminated Histoplasmosis in a Child With Down Syndrome and Acute Lymphoblastic Leukemia

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REVISTA / JOURNAL:    - J Pediatr Hematol Oncol. 2022 Sep 22. doi: 10.1097/MPH.0000000000002556. Online ahead of print.

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AUTORES / AUTHORS: - Brittany A Cowfer et al

INSTITUCIÓN / INSTITUTION: - Division of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center and Monroe Carell Jr. Children s Hospital at Vanderbilt, Nashville, TN. 

RESUMEN / SUMMARY: - Histoplasmosis, a common mycosis in the south-central United States, may be life threatening in immunocompromised patients. We describe a 4-year-old female with Down syndrome and acute lymphoblastic leukemia who developed hemolytic anemia, thrombocytopenia, and renal failure, consistent with thrombotic microangiopathy. Bone marrow biopsy revealed non-necrotizing granulomas with GMS staining demonstrating budding yeast. Serum Histoplasma antigen testing was positive, providing further evidence for the diagnosis of progressive disseminated histoplasmosis. Treatment with amphotericin B, plasma exchange, and ventilator, vasopressor, and renal replacement support led to a full recovery. Providers should have a low threshold for histoplasmosis testing in ill immunocompromised patients, who are at greater risk for infection-related morbidity.

TÍTULO / TITLE:   - Neutropenia and Infection Prophylaxis in Childhood Cancer

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REVISTA / JOURNAL:    - Curr Oncol Rep. 2022 Jun;24(6):671-686. doi: 10.1007/s11912-022-01192-5. Epub 2022 Mar 1.

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AUTORES / AUTHORS: - Stephanie Villeneuve, Catherine Aftandilian

INSTITUCIÓN / INSTITUTION: - Paediatric Haemotology/Oncology, Dalhousie University and the IWK Health Centre, 5850/5980 University Avenue, Halifax, NS, B3K 6R8, Canada 

RESUMEN / SUMMARY: - Purpose of review: Pediatric oncology patients frequently experience episodes of prolonged neutropenia which puts them at high risk for infection with significant morbidity and mortality. Here, we review the data on infection prophylaxis with a focus on both pharmacologic and ancillary interventions. This review does not include patients receiving hematopoietic stem cell transplantation. Recent findings: Patients with hematologic malignancies are at highest risk for infection. Bacterial and fungal prophylaxis decrease the risk of infection in certain high-risk groups. Ancillary measures such as ethanol locks, chlorhexidine gluconate baths, GCSF, IVIG, and mandatory hospitalization do not have enough data to support routine use. There is limited data on risk of infection and role of prophylaxis in patients receiving immunotherapy and patients with solid tumors. Patients with Down syndrome and adolescent and young adult patients may benefit from additional supportive care measures and protocol modifications. Consider utilizing bacterial and fungal prophylaxis in patients with acute myeloid leukemia or relapsed acute lymphoblastic leukemia. More research is needed to evaluate other supportive care measures and the role of prophylaxis in patients receiving immunotherapy.

Molecular biology/Biochemistry - Biología molecular/Bioquímica

TÍTULO / TITLE:   - Sex Differences in Protein Expression and Their Perturbations in Amniotic Fluid Cells of Down Syndrome Fetuses

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REVISTA / JOURNAL:    - ACS Omega. 2022 Sep 28;7(40):35981-35992. doi: 10.1021/acsomega.2c05152. eCollection 2022 Oct 11.

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AUTORES / AUTHORS: - Yanyan Liu et al

INSTITUCIÓN / INSTITUTION: - Prenatal Diagnosis Center, Department of Obstetrics & Gynecologic, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan Univer 

RESUMEN / SUMMARY: - Down syndrome (DS) is the most common chromosomal condition associated with intellectual disability and is characterized by a variety of additional clinical findings. The pathogenesis of DS and the differences between the sexes are not clear. In order to identify differentially expressed proteins that might be employed as potential biological markers and elucidate the difference in pathogenesis between different genders of T21 fetuses, providing clues for individualized detection and treatment is essential. Amniocyte samples of T21 males, T21 females, CN males, and CN females were collected by amniocentesis. The quantitative value of the peptide corresponding to each sample was determined through quantitative analysis by mass spectrometry. We identified many differentially expressed proteins between T21 fetuses and CN fetuses/T21 males and CN males/T21 females and CN females/and T21 males and T21 females. These differential proteins are associated with many important biological processes and affect the development of multiple systems, including the heart, hematopoietic, immune, reproductive, and nervous systems. Our results show sex-specific modulation of protein expression and biological processes and provide new insights into sex-specific differences in the pathogenesis of DS.

Neurobiology - Neurobiología

TÍTULO / TITLE:   - GnRH replacement rescues cognition in Down syndrome

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REVISTA / JOURNAL:    - Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2.

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AUTORES / AUTHORS: - Maria Manfredi-Lozano et al.

INSTITUCIÓN / INSTITUTION: - Univ. Lille, Inserm, CHU Lille, Lille Neuroscience and Cognition, UMR-S 1172, Labex DistAlz, Lille, France. 

RESUMEN / SUMMARY: - At the present time, no viable treatment exists for cognitive and olfactory deficits in Down syndrome (DS). We show in a DS model (Ts65Dn mice) that these progressive nonreproductive neurological symptoms closely parallel a postpubertal decrease in hypothalamic as well as extrahypothalamic expression of a master molecule that controls reproduction-gonadotropin-releasing hormone (GnRH)-and appear related to an imbalance in a microRNA-gene network known to regulate GnRH neuron maturation together with altered hippocampal synaptic transmission. Epigenetic, cellular, chemogenetic, and pharmacological interventions that restore physiological GnRH levels abolish olfactory and cognitive defects in Ts65Dn mice, whereas pulsatile GnRH therapy improves cognition and brain connectivity in adult DS patients. GnRH thus plays a crucial role in olfaction and cognition, and pulsatile GnRH therapy holds promise to improve cognitive deficits in DS.

TÍTULO / TITLE:   - Boosting cognition with a hormone

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REVISTA / JOURNAL:    - Science. 2022 Sep 2;377(6610):1042-1043. doi: 10.1126/science.add9456. Epub 2022 Sep 1.

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AUTORES / AUTHORS: - Hanne M Hoffmann

INSTITUCIÓN / INSTITUTION: - Department of Animal Science, Michigan State University, East Lansing, MI, USA. 

RESUMEN / SUMMARY: - A hormone enhances cognition in mouse models of Alzheimers disease and Down syndrome.

TÍTULO / TITLE:   - Enrichment of Astrocyte-Derived Extracellular Vesicles from Human Plasma

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REVISTA / JOURNAL:    - J Vis Exp. 2022 Aug 3;(186). doi: 10.3791/64107.

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AUTORES / AUTHORS: - Natalia Valle-Tamayo et al

INSTITUCIÓN / INSTITUTION: - Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autónoma de Barcelona; Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBE 

RESUMEN / SUMMARY: - Extracellular vesicles (EVs) are biological nanoparticles secreted by all cells for cellular communication and waste elimination. They participate in a vast range of functions by acting on and transferring their cargos to other cells in physiological and pathological conditions. Given their presence in biofluids, EVs represent an excellent resource for studying disease processes and can be considered a liquid biopsy for biomarker discovery. An attractive aspect of EV analysis is that they can be selected based on markers of their cell of origin, thus reflecting the environment of a specific tissue in their cargo. However, one of the major handicaps related to EV isolation methods is the lack of methodological consensuses and standardized protocols. Astrocytes are glial cells with essential roles in the brain. In neurodegenerative diseases, astrocyte reactivity may lead to altered EV cargo and aberrant cellular communication, facilitating/enhancing disease progression. Thus, analysis of astrocyte EVs may lead to the discovery of biomarkers and potential disease targets. This protocol describes a 2-step method of enrichment of astrocyte-derived EVs (ADEVs) from human plasma. First, EVs are enriched from defibrinated plasma via polymer-based precipitation. This is followed by enrichment of ADEVs through ACSA-1-based immunocapture with magnetic micro-beads, where resuspended EVs are loaded onto a column placed in a magnetic field. Magnetically labeled ACSA-1+ EVs are retained within the column, while other EVs flow through. Once the column is removed from the magnet, ADEVs are eluted and are ready for storage and analysis. To validate the enrichment of astrocyte markers, glial fibrillary acidic protein (GFAP), or other specific astrocytic markers of intracellular origin, can be measured in the eluate and compared with the flow-through. This protocol proposes an easy, time-efficient method to enrich ADEVs from plasma that can be used as a platform to examine astrocyte-re

TÍTULO / TITLE:   - Modulation of calcineurin signaling during development

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REVISTA / JOURNAL:    - Dev Neurobiol. 2022 Sep;82(6):505-516. doi: 10.1002/dneu.22895. Epub 2022 Jul 10.

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AUTORES / AUTHORS: - Sara Tucker Edmister, Robbert Creton

INSTITUCIÓN / INSTITUTION: - Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, USA. 

RESUMEN / SUMMARY: - Calcineurin signaling pathways are suppressed in Down syndrome (trisomy 21), by overexpression of genes that are located on chromosome 21. Two key genes are the regulator of calcineurin 1 (RCAN1), also called the Down syndrome critical region 1 (DSCR1), and the dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A). The suppressed calcineurin pathway may potentially be restored using small-molecule DYRK inhibitors, which have been proposed as therapeutics in Down syndrome. However, little is known about the benefits and risks of such treatments during various stages of embryonic development, fetal development, and childhood. We examined the modulation of calcineurin signaling during development, using zebrafish as a model system. To mimic suppressed calcineurin signaling in Down syndrome, zebrafish were exposed to the calcineurin inhibitors cyclosporine and tacrolimus during development. We found that suppression of calcineurin signaling changed specific larval behaviors, including activity and responses to acoustic and visual stimuli, depending on the period of exposure. Cotreatment with the DYRK inhibitor proINDY restored a few of these behaviors but also induced a range of adverse side effects including decreased activity and reduced optomotor responses to visual stimuli. Based on these results, we conclude that proINDY has limited benefits and substantial risks when used during development. We propose that zebrafish is an efficient model system for preliminary safety and efficacy tests of other DYRK inhibitors that aim to restore calcineurin signaling during neural development.

TÍTULO / TITLE:   - Altered spontaneous brain activity in Down syndrome and its relation with cognitive outcome

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REVISTA / JOURNAL:    - Sci Rep. 2022 Sep 14;12(1):15410. doi: 10.1038/s41598-022-19627-1.

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AUTORES / AUTHORS: - Cristina Caete-Mass

INSTITUCIÓN / INSTITUTION: - Department of Social Psychology and Quantitative Psychology, Faculty of Psychology, Universitat de Barcelona, Barcelona, Spain. 

RESUMEN / SUMMARY: - Although Down syndrome (DS) is the most common genetic cause of neurodevelopmental delay, few neuroimaging studies have explored this population. This investigation aimed to study whole-brain resting-state spontaneous brain activity using fractional amplitude of low-frequency fluctuation (fALFF) and regional homogeneity (ReHo) strategies to find differences in spontaneous brain activity among young people with DS and controls and to correlate these results with cognitive outcomes. The sample comprised 18 persons with DS (age mean = 28.67, standard deviation = 4.18) and 18 controls (age mean = 28.56, standard deviation = 4.26). fALFF and ReHo analyses were performed, and the results were correlated with other cognitive variables also collected (KBIT-2 and verbal fluency test). Increased activity was found in DS using fALFF in areas involving the frontal and temporal lobes and left cerebellum anterior lobe. Decreased activity in DS was found in the left parietal and occipital lobe, the left limbic lobe and the left cerebellum posterior lobe. ReHo analysis showed increased activity in certain DS areas of the left frontal lobe and left rectus, as well as the inferior temporal lobe. The areas with decreased activity in the DS participants were regions of the frontal lobe and the right limbic lobe. Altered fALFF and ReHo were found in the DS population, and this alteration could predict the cognitive abilities of the participants. To our knowledge, this is the first study to explore regional spontaneous brain activity in a population with DS. Moreover, this study suggests the possibility of using fALFF and ReHo as biomarkers of cognitive function, which is highly important given the difficulties in cognitively evaluating this population to assess dementia. More research is needed, however, to demonstrate its utility.

Ophtalmology - Oftalmología

TÍTULO / TITLE:   - The Underlying Relationship between Keratoconus and Down Syndrome

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REVISTA / JOURNAL:    - Int J Mol Sci. 2022 Sep 16;23(18):10796. doi: 10.3390/ijms231810796. Free PMC article

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AUTORES / AUTHORS: - Theresa Akoto et al

INSTITUCIÓN / INSTITUTION: - Department of Cellular Biology & Anatomy, Augusta University, Augusta, GA 30912, USA 

RESUMEN / SUMMARY: - Keratoconus (KC) is one of the most significant corneal disorders worldwide, characterized by the progressive thinning and cone-shaped protrusion of the cornea, which can lead to severe visual impairment. The prevalence of KC varies greatly by ethnic groups and geographic regions and has been observed to be higher in recent years. Although studies reveal a possible link between KC and genetics, hormonal disturbances, environmental factors, and specific comorbidities such as Down Syndrome (DS), the exact cause of KC remains unknown. The incidence of KC ranges from 0% to 71% in DS patients, implying that as the worldwide population of DS patients grows, the number of KC patients may continue to rise significantly. As a result, this review aims to shed more light on the underlying relationship between KC and DS by examining the genetics relating to the cornea, central corneal thickness (CCT), and mechanical forces on the cornea, such as vigorous eye rubbing. Furthermore, this review discusses KC diagnostic and treatment strategies that may help detect KC in DS patients, as well as the available DS mouse models that could be used in modeling KC in DS patients. In summary, this review will provide improved clinical knowledge of KC in DS patients and promote additional KC-related research in these patients to enhance their eyesight and provide suitable treatment targets.

Physiotherapy - Fisioterapia

TÍTULO / TITLE:   - Neuromuscular exercise in children with Down Syndrome: a systematic review

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REVISTA / JOURNAL:    - Sci Rep. 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. Free PMC article

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AUTORES / AUTHORS: - Eliana-Isabel Rodrguez-Grande et al

INSTITUCIÓN / INSTITUTION: - Doctoral Program in Clinical Epidemiology, Pontificia Universidad Javeriana, Bogotá, Colombia.  

RESUMEN / SUMMARY: - The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of neuromuscular exercise on balance, muscle strength and flexibility specifying the parameters and characteristics of effective interventions in children between 6 and 12 years and adolescent between 13 and 18 years with Down Syndrome. The present study is a systematic review of effectiveness outcomes balance, muscle strength and flexibility in this population. The databases of PubMed, PEDro, EMBASE, SCIELO, Lilacs, Cochrane library were searched from May to December 2021. We recruited randomized controlled trials (RCTs) which met the inclusion criteria in our study. Ten studies were included. The interventions included mechanotherapy, vibration, and use of different unstable surfaces. The exercise frequency ranged from 3 to 5 days a week, and the duration of each session was between six and 15 min. The frequency was between two and three times a week for 6 and 12 weeks and the intensity were between 60 and 80% of maximal voluntary contraction. Neuromuscular exercise in different modes of application was associated with increases in chest and lower limb muscle strength mean 8.51, CI [2.35-14.67] kg and (21.54 [1.64, 41.43]) kg. Balance also improved when the mode of application was isokinetic training and core stability exercises (- 0.20 [- 0.29, - 0.12]) evaluated with stability index. Neuromuscular exercise appears to be effective for the improvement of both lower limb and chest muscle strength and balance in children over 8 years. No evidence was found in children under 8 years.

TÍTULO / TITLE:   - Keep it simple: comparing functional assessments in individuals with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Nov;66(11):893-899. doi: 10.1111/jir.12980. Epub 2022 Sep 14

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AUTORES / AUTHORS: - W J Stone et al

INSTITUCIÓN / INSTITUTION: - School of Kinesiology, Recreation, and Sport, Western Kentucky University, Bowling Green, KY, USA. 

RESUMEN / SUMMARY: - Background: A number of assessments exist that evaluate function in ambulatory adults. However, these assessments take for granted the cognitive abilities required for the participant to understand what is being asked of them in order to demonstrate their functional abilities. It has been shown that individuals with Down syndrome (DS) demonstrate lower functional levels when asked to perform additional tasks while walking. Therefore, measurements of function may not be reflective of actual function if the assessment requires additional tasks in those with DS. It is for these reasons the current investigation sought to evaluate four common functional assessments, two with [modified Berg balance test (mBERG) and Functional Gait Assessment (FGA)] and two without [Timed Up and Go (TUG) and Established Populations for Epidemiologic Study in the Elderly (EPESE)] complex tasks. Methods: Adults with DS (n = 19) completed four functional assessments, which were later compared using bivariate Pearson correlation coefficients. Results: There were large associations between simple assessments (TUG-EPESE: r = -0.525, P = 0.021) and complex assessments (FGA-mBERG: r = 0.612, P = 0.005), respectively. The TUG also inversely correlated with the FGA (r = -0.476, P = 0.039), and the EPESE had a large association with mBERG (r = 0.508, P = 0.027). Conclusions: The mBERG may be the best test to replicate real-world scenarios through its tasks, although it may also be confounded by the cognitive load required to perform the movements as asked. The TUG and EPESE may be more appropriate as mobility assessments because they require very little cognitive attention when completing the tasks. True assessments of mobility ought to err on the side of simple so to not confuse the outcomes with executive functionality.

TÍTULO / TITLE:   - A 12-week exercise programme has a positive effect on everyday executive function in young people with Down syndrome: a pilot non-randomised controlled trial

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Sep 13. doi: 10.1111/jir.12979. Online ahead of print.

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AUTORES / AUTHORS: - N Shields et al.

INSTITUCIÓN / INSTITUTION: - Department of Physiotherapy, Podiatry and Prosthetics and Orthotics, School of Allied Health, Human Services and Sport, La Trobe University, Melbourne, Australia. 

RESUMEN / SUMMARY: - Background: Exercise has the potential to reduce cognitive decline in people with Down syndrome by maximising their cognitive function. The aim of the study was to determine the effect of regular exercise on cognitive functioning in young people with Down syndrome. Method: People with Down syndrome were eligible if aged between 13 and 35 years and enrolled to participate in an exercise programme (called FitSkills). The intervention was a 12-week community-based exercise programme completed with a student mentor. Outcomes were assessed before (week 0) and immediately after (week 13) the intervention. Executive functioning (planning, response inhibition, attention shifting) was assessed using Tower of London, Sustained Attention to Response Task, CANTAB Intra-extra Dimensional Set Shift Test, Cognitive Scale for Down Syndrome, and Behaviour Rating Inventory of Executive Function (BRIEF). Working memory was assessed using the CANTAB Paired Associates Learning task, and information processing speed was assessed using the Motor Screening Task. Outcomes were analysed using ANCOVA with the baseline measure as the covariate. Results: Twenty participants (9 women; mean age 23.6 ± 6.6 years) enrolled. Between-group differences, in favour of the experimental group, were found for the global executive composite score of the BRIEF (mean difference -4.77 units, 95% CI -9.30 to -0.25). There were no between group differences for any other outcome measured. Conclusion: Participation in a 12-week exercise programme was effective in improving everyday executive functions in young people with Down syndrome. These preliminary findings need to be confirmed in future randomised controlled trials of community-based exercise with larger sample sizes.

TÍTULO / TITLE:   - A pilot randomised controlled trial on the effectiveness of infant massage on the acceptance, commitment and awareness of influence in parents of babies with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Oct 17. doi: 10.1111/jir.12983. Online ahead of print.

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AUTORES / AUTHORS: - E Pinero-Pinto et al

INSTITUCIÓN / INSTITUTION: - Physiotherapy Department, Faculty of Nursing, Physiotherapy and Podiatry, University of Seville, Seville, Spain 

RESUMEN / SUMMARY: - Background: The emotional state of parents of babies with Down syndrome affects their babies development and their parent-child bonding. The aim for this study was to conduct a pilot randomised controlled evaluation of the effect of infant massage on parents of babies with Down syndrome.Methods: This pilot study compared two groups (intervention and control), each with 16 parents of babies with Down syndrome. Indices of acceptance, engagement and awareness of influence were measured at two different time points (pre-test and after 5 weeks) using the This Is My Baby Interview. The allocation of families to each group was randomised. The experimental group performed infant massage, applied by the parents, for 5 weeks, every day for at least 10 min. The massage protocol was based on the methodology created by Vimala McClure. Parents in the control group received the intervention after completion of the study.Results: The indices of acceptance, commitment and awareness of influence improved in the experimental group and in the control group. The 2 × 2 mixed-model analysis of variance indicates a statistically significant group-by-time interaction for all indices (P < 0.001), which was significantly higher in the experimental group than in the control group. Conclusions: The application of infant massage, by parents to their babies, improves the rates of acceptance, commitment and awareness of influence of parents of babies with Down syndrome in the short term.

TÍTULO / TITLE:   - Resistance training and Down Syndrome: A narrative review on considerations for exercise prescription and safety

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REVISTA / JOURNAL:    - Front Physiol. 2022 Sep 27;13:948439. doi: 10.3389/fphys.2022.948439. eCollection 2022.

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AUTORES / AUTHORS: - Geiziane Leite Rodrigues Melo et al

INSTITUCIÓN / INSTITUTION: - Department of Physical Education, Catholic University of Brasília, Brasília, Brazil 

RESUMEN / SUMMARY: - The current manuscript reviews the literature on the health effects of resistance training (RT) for individuals with Down syndrome (DS), focusing on this training modality s methodology, application, and safety. The literature has mentioned that early aging in this population is associated with loss of muscle strength, lower lean and bone mass, and increased obesity. It is necessary to propose non-pharmacological measures for prevention and health promotion. Thus, this review suggests a current research-based RT guide for individuals with DS. This review is divided into three sections: Section 2 briefly reviews DS and the effects on structural and functional decline and how exercise and physical activity can influence health aspects in this population; Section 3 summarizes the evidence for RT prescription; Section 4 briefly reviews the health and potential benefits of RT in individuals with DS. The findings from this review suggest that most individuals with DS should engage in moderate-intensity RT at least 2 days a week and perform RT on the major muscle groups and include balance training. The RT program should be modified and adapted according to individuals characteristics and limitations. RT promotes positive, health-related benefits such as increasing strength, improving body composition, improving functional capacity and balance, reducing inflammatory status and oxidative stress, and improving the immune system. The RT protocols summarized in this current review provide guidance, critical conclusions, and novel research settings, which could be useful to coaches, clinicians, and researchers to effectively design RT program for individuals with DS.

Prenatal diagnosis - Diagnóstico

TÍTULO / TITLE:   - The anxiety caused by abnormal results of Down syndrome screening tests

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REVISTA / JOURNAL:    - J Obstet Gynaecol. 2022 Aug 22;1-6. doi: 10.1080/01443615.2022.2111659. Online ahead of print.

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AUTORES / AUTHORS: - Lena Sagi-Dain et al.

INSTITUCIÓN / INSTITUTION: - The Human Genetics Institute, Carmel Medical Center, Haifa, Israel 

RESUMEN / SUMMARY: - The objective of our survey was to evaluate the anxiety experienced by women receiving abnormal results of prenatal Down syndrome screening by an electronic anonymous survey. Anxiety level was evaluated by a six-item Spielberger State-Trait Anxiety Inventory. Of 559 respondents, high anxiety scores were reported in the majority (86.0%). Higher anxiety scores were noted in women informed of the abnormal result by the caregiver vs. written answer. 59.1% of the respondents preferred the risk reported as percentage, while only 4.4% gave precedence to the current form (e.g. 1 in 100). The participants noted several factors which could relieve their anxiety, including an explanatory booklet (72.4%) or a website (77.9%). In conclusion, women receiving abnormal results of Down syndrome screening experience significant anxiety. Efforts should be made to relieve this distress, including changing the historical ratio risk format to percentage, adding a non-directive verbal annotation, an explanatory website and improving health professionals understanding of the exact statistical meaning of the risk.Impact statement What is already known on this subject? Abnormal results of prenatal screening for Down syndrome might cause the women significant anxiety. Several simple methods are able to relieve this distress; however, they are frequently not implemented in the routine practice. What the results of this study add? We show that abnormal results of the screening tests are associated with high anxiety scores in the majority of women (86.0%). The majority of the respondents preferred the risk reported as percentage (vs. historical representation as a ratio). The participants noted several factors which could relieve their anxiety, including an explanatory booklet or a website. What the implications are of these findings for clinical practice and/or further research? Based on the results, we discuss the numerous ways able to available alleviate the distress.

TÍTULO / TITLE:   - Preferences for a non-invasive prenatal test as first-line screening for Down Syndrome: A discrete choice experiment

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REVISTA / JOURNAL:    - Prenat Diagn. 2022 Oct;42(11):1368-1376. doi: 10.1002/pd.6239. Epub 2022 Sep 18.

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AUTORES / AUTHORS: - Wen Shan Sim et al

INSTITUCIÓN / INSTITUTION: - Department of Maternal Fetal Medicine, KK Women s and Children s Hospital, Singapore, Singapore. 

RESUMEN / SUMMARY: - Objective: To investigate preferences of pregnant women for the characteristics of prenatal testing, and to quantify their willingness-to-pay (WTP) for non-invasive prenatal testing (NIPT) as first-line screening for Down Syndrome. Method: A cross-sectional discrete choice experiment survey including five testing attributes was administered to 192 pregnant women (≤14 weeks gestation) who were aged ≥21 years in Singapore. We calculated marginal WTP for improvements in testing characteristics and NIPT. Results: We identified two groups of women with distinct preferences for prenatal testing. Women aged ≥35 years, with at least a university education, and with intention to terminate pregnancy of an affected fetus were more likely to be in the group with higher WTP for improvements in test characteristics. While participants valued increased detection rate and lower screen positive rate associated with NIPT, they also valued no risk of test failure and ability to test for birth defects using standard testing. The participants, on average, were not willing to pay for NIPT over the standard testing as a first-line screening test. Conclusions: As a first-line screening, NIPT was not preferred over standard testing. The prenatal consultations should focus on each testing characteristic equally as our findings show diverse preferences for testing characteristics.

Psychiatry - Psiquiatría

TÍTULO / TITLE:   - Is Developmental Regression in Down Syndrome Linked to Life Stressors?

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REVISTA / JOURNAL:    - J Dev Behav Pediatr. 2022 Sep 1;43(7):427-436. doi: 10.1097/DBP.0000000000001086. Epub 2022 Jun 1

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AUTORES / AUTHORS: - Sabrina Sargado et al

INSTITUCIÓN / INSTITUTION: - Division of Developmental Medicine, Boston Children s Hospital, Boston, MA. 

RESUMEN / SUMMARY: - Objective: Unexplained regression in Down syndrome (URDS) involves a loss of acquired skills resulting in functional deterioration. Despite extensive workup and treatment, few individuals regain baseline function. This study aimed to understand the role of psychosocial stressors in URDS. Methods: We describe psychosocial stressors in 14 cases of URDS. Specifically, we examined psychosocial stressors in the context of presentation and clinical symptoms. We also examined co-occurring neurodevelopmental disorders and medical and mental health conditions. Results: All individuals experienced psychosocial stressors within one year of diagnosis of URDS. The most common psychosocial stressors were moving to a new home or school. Conclusion: Psychosocial stressors are commonly reported preceding URDS. Knowledge about psychosocial stressors impact may lead to preventive interventions, improved monitoring, and earlier diagnosis. Future research should focus on understanding psychosocial stressors to help identify individuals at risk for URDS and contribute to treatment.

TÍTULO / TITLE:   - The anxiety caused by abnormal results of Down syndrome screening tests

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REVISTA / JOURNAL:    - J Obstet Gynaecol. 2022 Aug 22;1-6. doi: 10.1080/01443615.2022.2111659. Online ahead of print.

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AUTORES / AUTHORS: - Lena Sagi-Dain et al

INSTITUCIÓN / INSTITUTION: - The Human Genetics Institute, Carmel Medical Center, Haifa, Israel 

RESUMEN / SUMMARY: - The objective of our survey was to evaluate the anxiety experienced by women receiving abnormal results of prenatal Down syndrome screening by an electronic anonymous survey. Anxiety level was evaluated by a six-item Spielberger State-Trait Anxiety Inventory. Of 559 respondents, high anxiety scores were reported in the majority (86.0%). Higher anxiety scores were noted in women informed of the abnormal result by the caregiver vs. written answer. 59.1% of the respondents preferred the risk reported as percentage, while only 4.4% gave precedence to the current form (e.g. 1 in 100). The participants noted several factors which could relieve their anxiety, including an explanatory booklet (72.4%) or a website (77.9%). In conclusion, women receiving abnormal results of Down syndrome screening experience significant anxiety. Efforts should be made to relieve this distress, including changing the historical ratio risk format to percentage, adding a non-directive verbal annotation, an explanatory website and improving health professionals understanding of the exact statistical meaning of the risk.Impact statement What is already known on this subject? Abnormal results of prenatal screening for Down syndrome might cause the women significant anxiety. Several simple methods are able to relieve this distress; however, they are frequently not implemented in the routine practice. What the results of this study add? We show that abnormal results of the screening tests are associated with high anxiety scores in the majority of women (86.0%). The majority of the respondents preferred the risk reported as percentage (vs. historical representation as a ratio). The participants noted several factors which could relieve their anxiety, including an explanatory booklet or a website. What the implications are of these findings for clinical practice and/or further research? Based on the results, we discuss the numerous ways able to available alleviate the distress.

TÍTULO / TITLE:   - Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities

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REVISTA / JOURNAL:    - J Am Acad Child Adolesc Psychiatry. 2022 Aug 22;S0890-8567(22)01248-5. doi: 10.1016/j.jaac.2022.06.0

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AUTORES / AUTHORS: - Rebecca C Shaffer et al

INSTITUCIÓN / INSTITUTION: - Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio; University of Cincinnati School of Medicine, Cincinnati, Ohio. 

RESUMEN / SUMMARY: - Objective: To summarize the current state of the literature regarding emotion dysregulation (ED) in syndromic intellectual disabilities (S-IDs) in 6 of the most common forms of S-IDs-Down syndrome, fragile X syndrome (FXS), tuberous sclerosis complex, Williams syndrome, Prader-Willi syndrome, and Angelman syndrome-and to determine future research directions for identification and treatment of ED. Method: PubMed bibliographic database was searched from date of inception to May 2021. PRISMA 2020 guidelines were followed with the flowchart, table of included studies, list of excluded studies, and checklist provided. Filters applied included human research and English. Only original research articles were included in the final set, but review articles were used to identify secondary citations of primary studies. All articles were reviewed for appropriateness by 2 authors and summarized. Inclusion criteria were met by 145 articles (Down syndrome = 29, FXS = 55, tuberous sclerosis complex = 11, Williams syndrome = 18, Prader-Willi syndrome = 24, Angelman syndrome = 8). Results: Each syndrome review was summarized separately and further subdivided into articles related to underlying neurobiology, behaviors associated with ED, assessment, and targeted intervention. FXS had the most thorough research base, followed by Down syndrome and Prader-Willi syndrome, with the other syndromes having more limited available research. Very limited research was available regarding intervention for all disorders except FXS. Conclusion: Core underlying characteristics of S-IDs appear to place youth at higher risk for ED, but further research is needed to better assess and treat ED in S-IDs. Future studies should have a standard assessment measure of ED, such as the Emotion Dysregulation Inventory, and explore adapting established curricula for ED from the neurotypical and autism spectrum disorder fields.

TÍTULO / TITLE:   - Assessing co-occurring mental health conditions in a multidisciplinary Down syndrome clinic and the role of family history

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REVISTA / JOURNAL:    - Am J Med Genet A. 2022 Nov;188(11):3162-3171. doi: 10.1002/ajmg.a.62948. Epub 2022 Aug 12.

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AUTORES / AUTHORS: - Gabriella Raffaele et al

INSTITUCIÓN / INSTITUTION: - Institute of Health Professions, MGH, Boston, Massachusetts, USA 

RESUMEN / SUMMARY: - Compared to the general population, individuals with Down syndrome (DS) are at a significantly increased risk to develop mental health conditions. This study sought to examine individuals with DS and co-existing mental health comorbidities at one DS specialty clinic. Retrospective chart review of medical records including demographics, genetic testing history, personal and familial mental health history, referrals for mental health indications, and recommendations was performed. Summary statistics, logistic regression, and log of odds were converted to odd ratios to assess associations and significance. The charts of 327 patients, average 19.4 years of age (1-70), were reviewed. Nearly half the participants (42.2%) had at least one diagnosis of a mental health condition. Those with a family history were significantly more likely to have a personal diagnosis of a mental health condition than those without a family history (p < 0.01). Moreover, those who completed referrals often received medical management recommendations (86%). This study highlights the prevalence of mental health comorbidities among individuals with DS, and the referral process for mental health conditions, at one DS specialty clinic. Further research is needed to investigate our family history findings, and to determine if these results are generalizable across other DS clinics.

TÍTULO / TITLE:   - Searching for Best Predictors of Paralinguistic Comprehension and Production of Emotions in Communication in Adults With Moderate Intellectual Disability

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REVISTA / JOURNAL:    - Front Psychol. 2022 Jul 8;13:884242. doi: 10.3389/fpsyg.2022.884242. eCollection 2022.

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AUTORES / AUTHORS: - Gordana Calić et al

INSTITUCIÓN / INSTITUTION: - Faculty of Special Education and Rehabilitation, University of Belgrade, Belgrade, Serbia. 

RESUMEN / SUMMARY: - Paralinguistic comprehension and production of emotions in communication include the skills of recognizing and interpreting emotional states with the help of facial expressions, prosody and intonation. In the relevant scientific literature, the skills of paralinguistic comprehension and production of emotions in communication are related primarily to receptive language abilities, although some authors found also their correlations with intellectual abilities and acoustic features of the voice. Therefore, the aim of this study was to investigate which of the mentioned variables (receptive language ability, acoustic features of voice, intellectual ability, social-demographic), presents the most relevant predictor of paralinguistic comprehension and paralinguistic production of emotions in communication in adults with moderate intellectual disabilities (MID). The sample included 41 adults with MID, 20-49 years of age (M = 34.34, SD = 7.809), 29 of whom had MID of unknown etiology, while 12 had Down syndrome. All participants are native speakers of Serbian. Two subscales from The Assessment Battery for Communication - Paralinguistic comprehension of emotions in communication and Paralinguistic production of emotions in communication, were used to assess the examinees from the aspect of paralinguistic comprehension and production skills. For the graduation of examinees from the aspect of assumed predictor variables, the following instruments were used: Peabody Picture Vocabulary Test was used to assess receptive language abilities, Computerized Speech Lab ("Kay Elemetrics" Corp., model 4300) was used to assess acoustic features of voice, and Raven s Progressive Matrices were used to assess intellectual ability. Hierarchical regression analysis was applied to investigate to which extent the proposed variables present an actual predictor variables for paralinguistic comprehension and production of emotions in communication as dependent variables. The results of this analys

Quality of life - Calidad de vida

TÍTULO / TITLE:   - Down syndrome: Parental experiences of a postnatal diagnosis

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REVISTA / JOURNAL:    - J Intellect Disabil. 2022 Jun 14;17446295221106151. doi: 10.1177/17446295221106151.

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AUTORES / AUTHORS: - Fiona Mc Grane et al

INSTITUCIÓN / INSTITUTION: - School of Nursing and Midwifery, 1596Queens University, Belfast, Ireland; Department of Paediatrics, 8809Trinity College, Dublin, Ireland 

RESUMEN / SUMMARY: - Globally it is estimated that Down syndrome occurs in 1 in 800 live births (Bull 2020). It has also been estimated that the incidence of Down syndrome occurs in 1/444 live births in the Republic of Ireland. Given the prevalence of Down syndrome births in Ireland and the fact that care is provided by the majority of parents at home, this qualitative study aimed to explore the experiences of Irish parents receiving a postnatal diagnosis of Down syndrome. Method: A qualitative research approach was used through semi structured interviews. Eight parents of a baby diagnosed postnatally with Down syndrome participated in this study sharing their stories of their postnatal diagnosis experiences. Results: Five overarching themes emerged using a descriptive thematic analysis; 1. prenatal screening, pregnancy and delivery; 2. how the diagnosis was delivered; 3. setting and emotional experiences; 4. moving on with the postnatal diagnosis and 5. Future recommendations from parents perspectives. Conclusion: This study highlighted the importance of the need for clinicians to ensure that partners are present at the time of the disclosure, that ample time is allocated and that verbal and written communications are provided to parents using less medical jargon when delivering the postnatal diagnosis of Down syndrome. These reasonable adjustments could alleviate parental anxiety at this critical juncture in their lives. Online resources and support forums were also identified as an integral support for families on discharge from the maternity centres and in the early months and years.

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

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

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AUTORES / AUTHORS: - Susan J Loveall et al.

INSTITUCIÓN / INSTITUTION: - University of Nebraska-Lincoln 

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

TÍTULO / TITLE:   - Associations among co-occurring medical conditions and cognition, language, and behavior in Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Jul;126:104236. doi: 10.1016/j.ridd.2022.104236. Epub 2022 Apr 22

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AUTORES / AUTHORS: - Emily K Schworer et al.

INSTITUCIÓN / INSTITUTION: - 1Division of Developmental and Behavioral Pediatrics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH, USA.  

RESUMEN / SUMMARY: - Background: Specific medical conditions are more prevalent in Down syndrome (DS) compared to the general population. Medical heterogeneity has also been hypothesized to contribute to variability in outcomes in DS. Aims: This project aimed to examine the association between medical conditions (i.e., gastrointestinal issues, hearing loss, vision problems, and congenital heart defects) and cognition, language, and behavior in children and adolescents with DS. Methods and procedures: Participants were 73 children and adolescents with DS, ages 6-17 years (M = 12.67, SD = 3.16). Caregivers reported on participants medical conditions, social behaviors, maladaptive behaviors, and executive function. Child cognitive abilities were also assessed. Outcomes and results: Of the 73 participants, 34.2% had gastrointestinal issues, 12.3% had uncorrected hearing loss, 26.0% had uncorrected vision problems, and 31.5% had congenital heart defects. Participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues. Conclusions and implications: The associations identified between gastrointestinal issues and caregiver-reported behavioral characteristics in youth with DS contributes to our understanding of the interrelation between co-occurring medical conditions and child outcomes and has implications for approaches to care for individuals with DS.

TÍTULO / TITLE:   - All views my own? Portraying the voices of children with complex neurodevelopmental disorders in statutory documents

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Oct;129:104321. doi: 10.1016/j.ridd.2022.104321. Epub 2022 Aug 2.

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AUTORES / AUTHORS: - Olympia Palikara et al

INSTITUCIÓN / INSTITUTION: - Department of Education Studies, University of Warwick, Coventry, UK.  

RESUMEN / SUMMARY: - Portraying the voices of children with complex genetic neurodevelopmental disorders about their health, care and education needs in their statutory documents is a challenging task. This study examined the ways by which the perspectives of children diagnosed with Down Syndrome (DS) and Williams Syndrome (WS) are portrayed in their statutory documents, namely the Education Health and Care plans, in England. Using the International Classification of Functioning Disability and Health for Children and Youth, we analysed the content of Section A of the Education Health and Care plans of 52 children and young people with WS and DS, between 5 and 26 years of age. A minority of statutory documents (7.7 %) explicitly reported the children s voices, and many failed to document how the children s voices were accessed. Only a few specific or evidence-based tools to access their voices were reported. Most statutory documents portrayed parental rather than children s voices concerning aspects of their health, care, and education. This study highlights the need to establish the use of evidence-based tools for ascertaining the voices of children with complex neurodevelopmental disorders and including them in decision making about their health, care and education needs.

TÍTULO / TITLE:   - Permissive parenting mediates parental stress and child emotions in families of children with Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Nov;35(6):1418-1428. doi: 10.1111/jar.13031. Epub 2022 Aug 24.

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AUTORES / AUTHORS: - Gayle G Faught et al

INSTITUCIÓN / INSTITUTION: - Department of Psychology, The University of Alabama, Tuscaloosa, Alabama, USA. 

RESUMEN / SUMMARY: - Background: Parenting styles mediate parental stress and child emotions in families of typically developing (TD) children. Our main aim was to study these relations in families of children with Down syndrome (DS), who in past research reported increased parental stress and permissive parenting. Method: Our sample included 100 parents of children with DS and 72 parents of TD children age 4-12 years. Parents completed online surveys of parental adjustment and emotion regulation (ER), parenting styles, and child ER and mood. Results: Parents of children with DS reported more distress and permissive parenting than parents of TD children. Within parents of children with DS, there was an indirect effect of parental stress on child emotions through permissive parenting. This effect was partly conditional upon parental ER and positive adjustment. Conclusions: Results have implications for distressed parents of children with DS whose families may benefit from improved coping strategies and increased support.

TÍTULO / TITLE:   - Parental perspectives on the quality of life of children with Down syndrome

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REVISTA / JOURNAL:    - Front Psychiatry. 2022 Aug 12;13:957876. doi: 10.3389/fpsyt.2022.957876. eCollection 2022.

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AUTORES / AUTHORS: - Elisa Fuca et al

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

RESUMEN / SUMMARY: - Down Syndrome (DS) is the most common chromosome abnormality and the most frequent cause of developmental delay/intellectual disabilities in children. Although the investigation of the quality of life (QoL) is crucial in children with DS, relatively poor attention has been paid to this topic. The current study aimed to evaluate parent-reported QoL in a group of children with DS and identify children s individual and clinical features associated with different levels of QoL. We included in the study 73 children with DS (5-12 years) and investigated the parent-reported levels of QoL by means of the Pediatric Quality of Life Inventory. Cognitive level and the presence of behavioral difficulties were also evaluated. The overall parent-reported QoL of children with DS was high; emotional functioning was the domain with the highest level of QoL. Moreover, parents perceived low levels of QoL in children who exhibited low IQ, worse analogical reasoning, worse adaptive skills, more frequent challenging behaviors, more ritualistic/sameness behavior and more autistic symptoms. No differences emerged for family variables, namely parental education and employment, between the two groups with high and low QoL, as perceived by parents. The understanding of cognitive and behavioral factors - such as analogical reasoning, socio-communication abilities and challenging behaviors - related with different degrees of QoL in children with DS is crucial for the development of effective strategies to promote the improvement of the QoL.

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

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REVISTA / JOURNAL:    - Child Youth Serv Rev. 2022 Feb;133:106325. doi: 10.1016/j.childyouth.2021.106325. Epub 2021 Dec 2.

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AUTORES / AUTHORS: - S elik

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

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

TÍTULO / TITLE:   - The quality of life of parents of children with down syndrome in a tertiary care hospital: A qualitative research study at Saudi Arabia

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REVISTA / JOURNAL:    - Ann Med Surg (Lond). 2022 Sep 5;81:104428. doi: 10.1016/j.amsu.2022.104428. eCollection 2022 Sep.

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AUTORES / AUTHORS: - Fatimah Saeed AlAhmari

INSTITUCIÓN / INSTITUTION: - Developmental & Behavioural Pediatrics, King Abdullah Specialized Children Hospital, National Guard Health Affairs, Riyadh, Saudi Arabia. 

RESUMEN / SUMMARY: - Background: As children with down syndrome (DS) usually have significant morbidities, they can also represent a significant burden on their caregivers and impact their quality of life (QoL). We conducted this study to investigate whether or not having DS children can impact the different domains of the QoL of their caregivers in Saudi Arabia. Methods: This is a cross-sectional phenomenological qualitative research study that was conducted in a tertiary care hospital, Riyadh, Saudi Arabia. To assess the study outcomes, we used the WHOQOL-BREF to assess the different domains of the QoL. Results: We have included 261 caregivers to DS children that responded to our questionnaire. The mean (SD) scores for the WHOQOL-BREF domains were 84 (±15), 88 (±15), 41 (±10), and 105 (±24), including the physical, psychological, social relations, and environmental domains, respectively. There was a significant difference between all of the scores that have been reported for these domains (P-value <0.001). Furthermore, educational level and the number of children were significantly associated with the psychological and physical domains, while the number of children was the only significant variable with the social relation. Finally, educational level, number of children, and average monthly income were all significantly correlated with the environmental domain. Conclusion: Our study indicates that the QoL of caregivers to DS children is significantly impacted in the different domains, indicating the urgent need to apply adequate interventions.

TÍTULO / TITLE:   - Quality of life beyond diagnosis in intellectual disability - Latent profiling

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Oct;129:104322. doi: 10.1016/j.ridd.2022.104322. Epub 2022 Aug 5.

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AUTORES / AUTHORS: - Helen Leonard

INSTITUCIÓN / INSTITUTION: - Telethon Kids Institute, Child Disability, The University of Western Australia, Perth, Western Australia, Australia. 

RESUMEN / SUMMARY: - Objective: To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. Method: Primary caregivers of 526 children with intellectual disability (age 5-18 years) and a diagnosis of cerebral palsy, autism spectrum disorder, Down syndrome, CDKL5 deficiency disorder or Rett syndrome completed the Quality of Life Inventory-Disability (QI-Disability) questionnaire. Latent profile analysis of the QI-Disability domain scores was conducted. Results: The mean (SD) total QOL score was 67.8 (13.4), ranging from 60.3 (14.6) for CDD to 77.5 (11.7) for Down syndrome. Three classes describing domain scores were identified: Class 1 was characterised by higher domain scores overall but poorer negative emotions scores; Class 2 by average to high scores for most domains but low independence scores; and Class 3 was characterised by low positive emotions, social interaction, and leisure and the outdoors scores, and extremely low independence scores. The majority of individuals with autism spectrum disorder and Down syndrome belonged to Class 1 and the majority with CDKL5 deficiency disorder belonged to Class 3. Those with better functional abilities (verbal communication and independent walking were predominately members of Class 1 and those with frequent seizures were more often members of Class 2 and 3. Conclusion: The profiles illustrated variation in QOL across a diverse group of children. QOL evaluations illustrate areas where interventions could improve QOL and provide advice to families as to where efforts may be best directed.

Respiratory - Respiratorio

TÍTULO / TITLE:   - Pulmonary hypertension in children with down syndrome: Results from the pediatric pulmonary hypertension network registry

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REVISTA / JOURNAL:    - J Pediatr. 2022 Aug 24;S0022-3476(22)00762-4. doi: 10.1016/j.jpeds.2022.08.027.

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AUTORES / AUTHORS: - Rachel K Hopper

INSTITUCIÓN / INSTITUTION: - Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children s Hospital Stanford, Palo Alto, CA.  

RESUMEN / SUMMARY: - Objective: To characterize distinct comorbidities, outcomes, and treatment patterns in children with Down syndrome and pulmonary hypertension in a large, multicenter pediatric pulmonary hypertension registry. Study design: We analyzed data from the Pediatric Pulmonary Hypertension Network (PPHNet) Registry, comparing demographic and clinical characteristics of children with Down syndrome and children without Down syndrome. We examined factors associated with pulmonary hypertension resolution and a composite outcome of pulmonary hypertension severity in the cohort with Down syndrome. Results: Of 1475 pediatric patients with pulmonary hypertension, 158 (11%) had Down syndrome. The median age at diagnosis of pulmonary hypertension in patients with Down syndrome was 0.49 year (IQR, 0.21-1.77 years), similar to that in patients without Down syndrome. There was no difference in rates of cardiac catheterization and prescribed pulmonary hypertension medications in children with Down syndrome and those without Down syndrome. Comorbidities in Down syndrome included congenital heart disease (95%; repaired in 68%), sleep apnea (56%), prematurity (49%), recurrent respiratory exacerbations (35%), gastroesophageal reflux (38%), and aspiration (31%). Pulmonary hypertension resolved in 43% after 3 years, associated with a diagnosis of pulmonary hypertension at age <6 months (54% vs 29%; P = .002) and a pretricuspid shunt (65% vs 38%; P = .02). Five-year transplantation-free survival was 88% (95% CI, 80%-97%). Tracheostomy (hazard ratio [HR], 3.29; 95% CI, 1.61-6.69) and reflux medication use (HR, 2.08; 95% CI, 1.11-3.90) were independently associated with a composite outcome of severe pulmonary hypertension. Conclusions: Despite high rates of cardiac and respiratory comorbidities that influence the severity of pulmonary hypertension, children with Down syndrome-associated pulmonary hypertension generally have a survival rate similar to that of children with non-Down syndrome-associa

Surgery - Cirugía

TÍTULO / TITLE:   - Peri-operative myocardial performance in infants with Down syndrome undergoing CHD repair

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REVISTA / JOURNAL:    - Cardiol Young. 2022 Jun;32(6):960-968. doi: 10.1017/S1047951121003449. Epub 2021 Aug 31.

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AUTORES / AUTHORS: - Lyudmyla Zakharchenko

INSTITUCIÓN / INSTITUTION: - Department of Paediatric Cardiology, Children s Health Ireland at Crumlin, Dublin, Ireland. 

RESUMEN / SUMMARY: - Background: We aimed to characterise the impact of Down syndrome on myocardial performance and loading conditions in infants with Down syndrome and CHD over the peri-operative period by comparing them with infants matched for cardiac lesion with a normal microarray. Methods: Left ventricular global longitudinal strain, right ventricular free wall longitudinal strain, left ventricular end-systolic wall stress, and right ventricular systolic pressure were measured in the two groups over the peri-operative period. Results: Fifty-five infants had a diagnosis of Down syndrome and these were compared with 29 control infants. Left ventricular global longitudinal strain decreased in both groups post-operatively with the Down syndrome group demonstrating some recovery pre-discharge (18 ± 3 versus 16 ± 3 %, p = 0.01). Right ventricular longitudinal strain significantly decreased in both groups post-operatively with the control group demonstrating better recovery by hospital discharge (14 ± 4 versus 18 ± 6 %, p < 0.01). End-systolic wall stress was lower and right ventricular systolic pressure was higher in the Down syndrome group throughout the study period (all p < 0.05). Down syndrome was an independent predictor of the duration of ventilation, post-operative use of inotropes, and intensive care stay. Right ventricular longitudinal strain was an independent predictor of duration of intensive care stay. Conclusion: This study demonstrates the difference between the two groups in relation to left and right ventricular function, particularly prior to discharge, and outlines the additional impact a diagnosis of Down syndrome has on myocardial performance during the peri-operative period.

TÍTULO / TITLE:   - The evolving treatment of congenital heart disease in patient with Down syndrome: Current state of knowledge

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REVISTA / JOURNAL:    - J Card Surg. 2022 Aug 21. doi: 10.1111/jocs.16875

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AUTORES / AUTHORS: - Hani N Alkattan

INSTITUCIÓN / INSTITUTION: - Department of Cardiac Sciences, Ministry of the National Guard - Health Affairs, Riyadh, Saudi Arabia. 

RESUMEN / SUMMARY: - Objectives: Children with Down syndrome are usually seen as not worthy of high-risk cardiac surgery. Through this review, we try to show the results of curative and palliative surgery for functional single ventricle syndrome in patients with Down syndrome, as there is currently no standard protocol for the treatment of this category of patients. Methods: An exhaustive search of all related published medical literature included the following domains: Down syndrome and diagnosis, Down syndrome and taxonomy, Down syndrome, and natural history, Down syndrome and cardiovascular abnormalities, Down syndrome and pulmonary hypertension, Down syndrome and institutionalization, Down syndrome and surgical repair, Down syndrome, and single ventricle palliation, Down syndrome and Glenn, Down syndrome, and Fontan. Results: 12 articles were included from 775 identified. Low-risk cardiac surgery procedure should be provided for Down syndrome with a balanced ventricular septal defect. There is no universal agreement about the surgical approach for Down syndrome with unbalanced ventricular septal defects, but it can be performed at relatively low risk. Conclusions: TCPC in Down syndrome patients could be a relatively low-risk procedure if patients are prepared well and their pulmonary vascular resistance is low. Randomized prospective studies are required to show the long-term impact of TCPC palliation and develop a better understanding of standardized care of these patients.

TÍTULO / TITLE:   - The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome

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REVISTA / JOURNAL:    - Medeni Med J. 2022 Sep 21;37(3):226-233. doi: 10.4274/MMJ.galenos.2022.09086.

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AUTORES / AUTHORS: - Elif Yilmaz Gulec, Alper Gezdirici

INSTITUCIÓN / INSTITUTION: - University of Health Sciences Turkey, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Department of Medical Genetics, Istanbul, Turkey. 

RESUMEN / SUMMARY: - Objective: Children with Down syndrome have a high incidence of major malformations and corrective surgery. Some patients do not need any surgery, while some cases are operated for several indications. There are few studies investigating the effect of maternal age on the phenotype of these children, despite the fact that increasing maternal age is a known risk factor for giving birth to Down syndrome. We aimed to investigate the incidence of surgery for major malformations and disorders in children with Down syndrome and its relationship with maternal age at birth. Methods: We revised the records of 218 children with Down syndrome for maternal age at birth and for surgical interventions. Results: There were 84 children who had at least one operation with 38.5% incidence. A total of 49 children had cardiac surgery, 16 had gastrointestinal, 17 had head and neck area, 12 had ophthalmological, 12 had genitourinary, 5 had hernia, and 2 had orthopedic surgeries. The mean maternal age was 32.7 (minimum: 15; maximum: 44), and there was no significant difference between operated and non-operated groups for mean maternal ages (32.41 and 32.93, respectively; p=0.89). For any type of surgery, there was no significant difference between the groups with maternal ages 35 and over and those under 35. Conclusions: Maternal age at birth has no effect on the incidence of malformations and the probability of operation in Down syndrome

Therapeutics - Terapéutica

TÍTULO / TITLE:   - GnRH replacement rescues cognition in Down syndrome

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REVISTA / JOURNAL:    - Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2.

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AUTORES / AUTHORS: - Maria Manfredi-Lozano

INSTITUCIÓN / INSTITUTION: - Univ. Lille, Inserm, CHU Lille, Lille Neuroscience and Cognition, UMR-S 1172, Labex DistAlz, Lille, France. 

RESUMEN / SUMMARY: - At the present time, no viable treatment exists for cognitive and olfactory deficits in Down syndrome (DS). We show in a DS model (Ts65Dn mice) that these progressive nonreproductive neurological symptoms closely parallel a postpubertal decrease in hypothalamic as well as extrahypothalamic expression of a master molecule that controls reproduction-gonadotropin-releasing hormone (GnRH)-and appear related to an imbalance in a microRNA-gene network known to regulate GnRH neuron maturation together with altered hippocampal synaptic transmission. Epigenetic, cellular, chemogenetic, and pharmacological interventions that restore physiological GnRH levels abolish olfactory and cognitive defects in Ts65Dn mice, whereas pulsatile GnRH therapy improves cognition and brain connectivity in adult DS patients. GnRH thus plays a crucial role in olfaction and cognition, and pulsatile GnRH therapy holds promise to improve cognitive deficits in DS.

TÍTULO / TITLE:   - Considerations for measuring individual outcomes across contexts in Down syndrome: Implications for research and clinical trials

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REVISTA / JOURNAL:    - Int Rev Res Dev Disabil. 2022;62:191-225. doi: 10.1016/bs.irrdd.2022.05.005. Epub 2022 Aug 19.

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AUTORES / AUTHORS: - Anna J Esbensen

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

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are increasingly involved in clinical trials that target developmental outcomes, like cognition and behavior. The increased focus on treatment in DS has led to ongoing discussions regarding the selection of outcome measures using syndrome-informed criteria. This discourse is warranted as clinical trials can fail if the outcome measures selected are inappropriate for individuals with DS or do not take into account the behavioral phenotype commonly associated with DS. This review focuses on the challenges present in the measurement of outcomes in DS, with a specific focus on considerations made in evaluating cognitive, language, and behavioral/psychopathology outcomes. This review also provides a summary of recommendations for assessment of outcomes in these domains as well as recommendations for future research. The impact of physical health and assessment psychometrics on the measurement of outcomes is also reviewed.

Education - Educación

TÍTULO / TITLE:   - Down syndrome: Parental experiences of a postnatal diagnosis

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REVISTA / JOURNAL:    - J Intellect Disabil. 2022 Jun 14;17446295221106151. doi: 10.1177/17446295221106151.

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AUTORES / AUTHORS: - Fiona Mc Grane

INSTITUCIÓN / INSTITUTION: - School of Nursing and Midwifery, 1596Queens University, Belfast, Ireland; Department of Paediatrics, 8809Trinity College, Dublin, Ireland 

RESUMEN / SUMMARY: - Globally it is estimated that Down syndrome occurs in 1 in 800 live births (Bull 2020). It has also been estimated that the incidence of Down syndrome occurs in 1/444 live births in the Republic of Ireland. Given the prevalence of Down syndrome births in Ireland and the fact that care is provided by the majority of parents at home, this qualitative study aimed to explore the experiences of Irish parents receiving a postnatal diagnosis of Down syndrome. Method: A qualitative research approach was used through semi structured interviews. Eight parents of a baby diagnosed postnatally with Down syndrome participated in this study sharing their stories of their postnatal diagnosis experiences. Results: Five overarching themes emerged using a descriptive thematic analysis; 1. prenatal screening, pregnancy and delivery; 2. how the diagnosis was delivered; 3. setting and emotional experiences; 4. moving on with the postnatal diagnosis and 5. Future recommendations from parents perspectives. Conclusion: This study highlighted the importance of the need for clinicians to ensure that partners are present at the time of the disclosure, that ample time is allocated and that verbal and written communications are provided to parents using less medical jargon when delivering the postnatal diagnosis of Down syndrome. These reasonable adjustments could alleviate parental anxiety at this critical juncture in their lives. Online resources and support forums were also identified as an integral support for families on discharge from the maternity centres and in the early months and years.

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

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

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AUTORES / AUTHORS: - Susan J Loveall

INSTITUCIÓN / INSTITUTION: - University of Nebraska-Lincoln 

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

TÍTULO / TITLE:   - Associations among co-occurring medical conditions and cognition, language, and behavior in Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Jul;126:104236. doi: 10.1016/j.ridd.2022.104236. Epub 2022 Apr 22.

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AUTORES / AUTHORS: - Emily K Schworer

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

RESUMEN / SUMMARY: - Background: Specific medical conditions are more prevalent in Down syndrome (DS) compared to the general population. Medical heterogeneity has also been hypothesized to contribute to variability in outcomes in DS. Aims: This project aimed to examine the association between medical conditions (i.e., gastrointestinal issues, hearing loss, vision problems, and congenital heart defects) and cognition, language, and behavior in children and adolescents with DS. Methods and procedures: Participants were 73 children and adolescents with DS, ages 6-17 years (M = 12.67, SD = 3.16). Caregivers reported on participants medical conditions, social behaviors, maladaptive behaviors, and executive function. Child cognitive abilities were also assessed. Outcomes and results: Of the 73 participants, 34.2% had gastrointestinal issues, 12.3% had uncorrected hearing loss, 26.0% had uncorrected vision problems, and 31.5% had congenital heart defects. Participants with gastrointestinal issues had significantly more challenges with social behaviors, maladaptive behaviors, and executive function compared to those without gastrointestinal issues. Conclusions and implications: The associations identified between gastrointestinal issues and caregiver-reported behavioral characteristics in youth with DS contributes to our understanding of the interrelation between co-occurring medical conditions and child outcomes and has implications for approaches to care for individuals with DS.

TÍTULO / TITLE:   - A pilot randomised controlled trial on the effectiveness of infant massage on the acceptance, commitment and awareness of influence in parents of babies with Down syndrome

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REVISTA / JOURNAL:    - J Intellect Disabil Res. 2022 Oct 17. doi: 10.1111/jir.12983.

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AUTORES / AUTHORS: - E Pinero-Pinto

INSTITUCIÓN / INSTITUTION: - Physiotherapy Department, Faculty of Nursing, Physiotherapy and Podiatry, University of Seville, Seville, Spain. 

RESUMEN / SUMMARY: - Background: The emotional state of parents of babies with Down syndrome affects their babies development and their parent-child bonding. The aim for this study was to conduct a pilot randomised controlled evaluation of the effect of infant massage on parents of babies with Down syndrome. Methods: This pilot study compared two groups (intervention and control), each with 16 parents of babies with Down syndrome. Indices of acceptance, engagement and awareness of influence were measured at two different time points (pre-test and after 5 weeks) using the This Is My Baby Interview. The allocation of families to each group was randomised. The experimental group performed infant massage, applied by the parents, for 5 weeks, every day for at least 10 min. The massage protocol was based on the methodology created by Vimala McClure. Parents in the control group received the intervention after completion of the study. Results: The indices of acceptance, commitment and awareness of influence improved in the experimental group and in the control group. The 2 × 2 mixed-model analysis of variance indicates a statistically significant group-by-time interaction for all indices (P < 0.001), which was significantly higher in the experimental group than in the control group. Conclusions: The application of infant massage, by parents to their babies, improves the rates of acceptance, commitment and awareness of influence of parents of babies with Down syndrome in the short term.

TÍTULO / TITLE:   - Permissive parenting mediates parental stress and child emotions in families of children with Down syndrome

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REVISTA / JOURNAL:    - J Appl Res Intellect Disabil. 2022 Nov;35(6):1418-1428. doi: 10.1111/jar.13031. Epub 2022 Aug 24

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AUTORES / AUTHORS: - Gayle G Faught

INSTITUCIÓN / INSTITUTION: - Department of Psychology, The University of Alabama, Tuscaloosa, Alabama, USA. 

RESUMEN / SUMMARY: - Background: Parenting styles mediate parental stress and child emotions in families of typically developing (TD) children. Our main aim was to study these relations in families of children with Down syndrome (DS), who in past research reported increased parental stress and permissive parenting. Method: Our sample included 100 parents of children with DS and 72 parents of TD children age 4-12 years. Parents completed online surveys of parental adjustment and emotion regulation (ER), parenting styles, and child ER and mood. Results: Parents of children with DS reported more distress and permissive parenting than parents of TD children. Within parents of children with DS, there was an indirect effect of parental stress on child emotions through permissive parenting. This effect was partly conditional upon parental ER and positive adjustment. Conclusions: Results have implications for distressed parents of children with DS whose families may benefit from improved coping strategies and increased support.

TÍTULO / TITLE:   - Considerations for measuring individual outcomes across contexts in Down syndrome: Implications for research and clinical trials

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REVISTA / JOURNAL:    - Int Rev Res Dev Disabil. 2022;62:191-225. doi: 10.1016/bs.irrdd.2022.05.005. Epub 2022 Aug 19.

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AUTORES / AUTHORS: - Anna J Esbensen

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

RESUMEN / SUMMARY: - Individuals with Down syndrome (DS) are increasingly involved in clinical trials that target developmental outcomes, like cognition and behavior. The increased focus on treatment in DS has led to ongoing discussions regarding the selection of outcome measures using syndrome-informed criteria. This discourse is warranted as clinical trials can fail if the outcome measures selected are inappropriate for individuals with DS or do not take into account the behavioral phenotype commonly associated with DS. This review focuses on the challenges present in the measurement of outcomes in DS, with a specific focus on considerations made in evaluating cognitive, language, and behavioral/psychopathology outcomes. This review also provides a summary of recommendations for assessment of outcomes in these domains as well as recommendations for future research. The impact of physical health and assessment psychometrics on the measurement of outcomes is also reviewed.

TÍTULO / TITLE:   - Using Virtual Reality to Improve Classroom Behavior in People With Down Syndrome: Within-Subjects Experimental Design

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REVISTA / JOURNAL:    - JMIR Serious Games. 2022 Apr 7;10(2):e34373. doi: 10.2196/34373

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AUTORES / AUTHORS: - Stefan Carlo Michalski

INSTITUCIÓN / INSTITUTION: - UniSA Justice and Society, University of South Australia, Adelaide, Australia. 

RESUMEN / SUMMARY: - Background: People with Down syndrome face various learning challenges. Introducing new and enjoyable experiences in learning settings may improve learning outcomes. Immersive and interactive technologies such as virtual reality can be used to deliver rich visual experiences in classrooms. Objective: The aim of this study was to investigate the feasibility and benefits of virtual reality exposure for people with Down syndrome in learning settings. Methods: To address this aim, we used a within-subjects design to assess the effect of a brief virtual reality drawing experience and conventional drawing experience on subsequent behavior in 16 participants. Results: Large positive effects were found for virtual reality drawing (t15=5.020, P<.001) and conventional drawing (t15=3.720, P=.002) in improving subsequent behavior in a learning setting. Irrespective of the intervention, the participant s mood, attention, and overall behavior significantly improved. No significant differences were found between the interventions (t15=-0.648; P=.53). Conclusions: This study s results are encouraging for researchers and educators interested in using virtual reality for people with Down syndrome, as virtual reality was found to be highly feasible. Recommendations are made for researchers and educators interested in providing virtual reality experiences for people with Down syndrome.

TÍTULO / TITLE:   - Executive functioning and verbal fluency performance in youth with Down syndrome

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REVISTA / JOURNAL:    - Res Dev Disabil. 2022 Oct 6;131:104358. doi: 10.1016/j.ridd.2022.104358. Online ahead of print.

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AUTORES / AUTHORS: - Amanallah Soltani

INSTITUCIÓN / INSTITUTION: - Department of Educational Psychology, Kerman Branch, Islamic Azad University, Kerman, Iran 

RESUMEN / SUMMARY: - Background: Executive functioning (EF) is an area of challenge for individuals with Down syndrome (DS) associated with a variety of downstream difficulties. Verbal fluency performance is one potential downstream effect that is commonly assessed in individuals with DS due to the measure s utility as a predictor of dementia. Verbal fluency requires individuals to inhibit irrelevant responses, shift between groupings of related words, and monitor to prevent repetition, all skills related to EF. Aims: This study aimed to determine the association between semantic verbal fluency performance and three EF subdomains (inhibition, shifting, and working memory) in youth with DS after taking into account vocabulary and cognitive ability. Methods and procedures: Neuropsychological assessments (verbal and visuospatial), and parent reports of EF, were completed at one time point by 69 youth with DS 6-17 years old and their caregivers. Expressive and receptive vocabulary skills and cognitive ability were also assessed. Outcomes and results: The results revealed that verbal fluency performance was significantly associated with neuropsychological assessments of EF and parent report of inhibition even after controlling for the effects of vocabulary and cognitive ability. Conclusions and implications: The findings highlight the underlying importance of EF in verbal fluency tasks in youth with DS.

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

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REVISTA / JOURNAL:    - Child Youth Serv Rev. 2022 Feb;133:106325. doi: 10.1016/j.childyouth.2021.106325. Epub 2021 Dec 2.

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AUTORES / AUTHORS: - S elik

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

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

TÍTULO / TITLE:   - A Review of the Effect of Classroom Sound-Field Amplification on Children in Primary School

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REVISTA / JOURNAL:    - Am J Audiol. 2022 Jun 2;31(2):470-486. doi: 10.1044/2022_AJA-21-00240. Epub 2022 Mar 28.

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AUTORES / AUTHORS: - Kiri Mealings

INSTITUCIÓN / INSTITUTION: - Department of Linguistics, Macquarie University, North Ryde, New South Wales, Australia. 

RESUMEN / SUMMARY: - Purpose: Being able to hear the teacher clearly is an important factor for children s learning. However, classrooms often have suboptimal listening conditions. Sound-field amplification systems (SFAS) can help improve classroom listening conditions by increasing the level of the teacher s speech compared to the background noise throughout the classroom. The aim of this review article was to review the effect of SFAS on children in primary school. Method: A comprehensive search of four online databases (ERIC, PubMed, Scopus, and Web of Science) was conducted. The search terms were classroom sound-field amplification and classroom amplified distribution system. Twenty-one articles were deemed relevant for the review plus an additional six from their references. Results: Most articles were published between 1996 and 2015. Only one article was published since 2016. A range of child populations were studied including typically developing children and children with difficulties and disabilities such as hearing loss, developmental language disorders, attention-deficit/hyperactivity disorder, emotional and behavior disorders, Down syndrome, and developmental disabilities. There were several different measures that were used to evaluate the effectiveness of SFAS including speech perception assessments, language assessments, academic and comprehension assessments, classroom observations, interviews, and questionnaires. Improvements with SFAS were found for speech perception, listening comprehension and auditory analysis, language outcomes, academic outcomes, and behavior. Conclusion: SFAS can benefit children s listening and learning; however, the child s background, classroom reverberation time (limit to < 1 s), and layout and type of learning activities, especially in modern classrooms, need to be taken into consideration.

TÍTULO / TITLE:   - Training professional caregivers to screen for report of cognitive changes in persons with intellectual disability

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REVISTA / JOURNAL:    - Alzheimers Dement (N Y). 2022 Aug 23;8(1):e12345. doi: 10.1002/trc2.12345. eCollection 2022.

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AUTORES / AUTHORS: - Art Walaszek

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

RESUMEN / SUMMARY: - RESUMEN / SUMMARY: Introduction: By age 60, 60% of adults with Down syndrome (DS) have dementia. Detecting dementia in persons with intellectual disability (ID) can be challenging because their underlying cognitive impairment can confound presentation of dementia symptoms and because adults with ID may have difficulty reporting symptoms. The National Task Group Early Detection Screen for Dementia (NTG-EDSD) was developed to aid detection of report of cognitive impairment in adults with ID. We implemented an educational curriculum using the NTG-EDSD and evaluated the impact of the intervention on professional caregivers self-assessed capacity to identify persons with ID and dementia. Methods: We held five in-person training sessions for professional caregivers of persons with ID, partnering with various managed care organizations and social services agencies. We assessed knowledge and attitudes at baseline; immediately after training; and 1 week, 1 month, and 6 months after training. Results: A total of 154 direct care workers, case managers, health-care providers, and other social services staff attended the trainings. Satisfaction with the NTG-EDSD training was high; 94% of attendees agreed or strongly agreed that they could use the NTG-EDSD with their clients. After training, attendees reported a marked increase in confidence in their ability to track various health circumstances and detect functional decline in their clients, although some gains were not sustained over time. As a result of the training, one managed care organization made the NTG-EDSD a standard part of its assessment of adults with DS starting at age 40. Discussion: Social services and health-care professionals can learn to document signs of cognitive decline in adults with ID using the NTG-EDSD. Attendees were highly satisfied with the training, experienced an increase in confidence in their care of persons with ID, and found the NTG- EDSD feasible to use. Because not all gains were sustaine

TÍTULO / TITLE:   - A systematic review of speech, language and communication interventions for children with Down syndrome from 0 to 6 years

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REVISTA / JOURNAL:    - Int J Lang Commun Disord. 2022 Mar;57(2):441-463. doi: 10.1111/1460-6984.12699. Epub 2022 Feb 22

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AUTORES / AUTHORS: - Emily Seager

INSTITUCIÓN / INSTITUTION: - School of Psychology and Clinical Language Sciences, University of Reading, Reading, UK. 

RESUMEN / SUMMARY: - Background: Speech and language acquisition can be a challenge for young children with Down syndrome (DS), and while early intervention is important, we do not know what early interventions exist and how effective they may be. Aims: To systematically review existing early speech, language and communication interventions for young children with DS from birth up to 6 years, and to investigate their effectiveness in improving speech, language and communication outcomes in children with DS. Other outcomes are changes in parental behaviour and their responsiveness METHODS & PROCEDURES: We conducted a systematic search of relevant electronic databases to identify early intervention studies targeting speech, language and communication outcomes in children with DS published up to May 2020. A total of 11 studies that met the inclusion criteria were synthesized and appraised for quality using the PEDro-P scale. There were a total of 242 children. We identified three types of intervention: communication training and responsive teaching, early stimulation programme, and dialectic-didactic approach. Main contribution: The findings from nine out of the 11 studies reported positive outcomes for children s language and communication up to 18 months following the intervention. All nine studies reported interventions that were co-delivered by parents and clinicians. However, there was also a de-accelerated growth in requesting behaviours in the intervention group reported by one study as well as a case of no improvement for the intervention group. Three studies provided some evidence of improvements to parent outcomes, such as increased parental language input and increased responsiveness. However, there was a moderate to high risk of bias for all studies included. Conclusions: The findings from this review suggest that interventions that have high dosage, focus on language and communication training within a naturalistic setting, and are co-delivered by parents and clinicians/resear

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