The Effects of Interventions on Motor Skills in Individuals with Down Syndrome: A Meta-Analysis

2021 ◽  
Author(s):  
Byungmo Ku ◽  
Ming-Chih Sung
Keyword(s):  
Down Syndrome ◽  
Motor Skills ◽  
Meta Analysis

scholarly journals Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation

Biology ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 609
Author(s):  
Nunzia Mollo ◽  
Matteo Esposito ◽  
Miriam Aurilia ◽  
Roberta Scognamiglio ◽  
Rossella Accarino ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mitochondrial Dysfunction ◽  
Neuronal Differentiation ◽  
Expression Profiles ◽  
Meta Analysis ◽  
Atp Synthesis ◽  
Differentiation Markers ◽  
Differentiation Potential ◽  
Atp Production ◽  
Mitochondrial Alterations

Background: The presence of mitochondrial alterations in Down syndrome suggests that it might affect neuronal differentiation. We established a model of trisomic iPSCs, differentiating into neural precursor cells (NPCs) to monitor the occurrence of differentiation defects and mitochondrial dysfunction. Methods: Isogenic trisomic and euploid iPSCs were differentiated into NPCs in monolayer cultures using the dual-SMAD inhibition protocol. Expression of pluripotency and neural differentiation genes was assessed by qRT-PCR and immunofluorescence. Meta-analysis of expression data was performed on iPSCs. Mitochondrial Ca2+, reactive oxygen species (ROS) and ATP production were investigated using fluorescent probes. Oxygen consumption rate (OCR) was determined by Seahorse Analyzer. Results: NPCs at day 7 of induction uniformly expressed the differentiation markers PAX6, SOX2 and NESTIN but not the stemness marker OCT4. At day 21, trisomic NPCs expressed higher levels of typical glial differentiation genes. Expression profiles indicated that mitochondrial genes were dysregulated in trisomic iPSCs. Trisomic NPCs showed altered mitochondrial Ca2+, reduced OCR and ATP synthesis, and elevated ROS production. Conclusions: Human trisomic iPSCs can be rapidly and efficiently differentiated into NPC monolayers. The trisomic NPCs obtained exhibit greater glial-like differentiation potential than their euploid counterparts and manifest mitochondrial dysfunction as early as day 7 of neuronal differentiation.

Effects of Traditional Indian Dance on Motor Skills and Balance in Children with Down syndrome

2021 ◽  
pp. 1-10
Author(s):  
Manasa Kolibylu Raghupathy ◽  
Mohan Divya ◽  
Suruliraj Karthikbabu
Keyword(s):  
Down Syndrome ◽  
Motor Skills ◽  
Children With Down Syndrome ◽  
Indian Dance

Infants with Down syndrome: Percentage and age for acquisition of gross motor skills

2013 ◽  
Vol 34 (3) ◽  
pp. 894-901 ◽  
Author(s):  
Karina Pereira ◽  
Renata Pedrolongo Basso ◽  
Ana Raquel Rodrigues Lindquist ◽  
Louise Gracelli Pereira da Silva ◽  
Eloisa Tudella
Keyword(s):  
Down Syndrome ◽  
Motor Skills ◽  
Gross Motor ◽  
Gross Motor Skills

Tongue-Based Procedures in Treating Refractory Obstructive Sleep Apnea in Down Syndrome Patients: A Systematic Review and Meta-Analysis

FACE ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 65-70
Author(s):  
Paul B. Lee ◽  
Michael T. Chung ◽  
Jared Johnson ◽  
Jordyn Lucas ◽  
Caitlin R. Priest ◽  
...  
Keyword(s):  
Systematic Review ◽  
Obstructive Sleep Apnea ◽  
Down Syndrome ◽  
Sleep Apnea ◽  
Nerve Stimulation ◽  
Hypoglossal Nerve ◽  
Meta Analysis ◽  
Apnea Hypopnea Index ◽  
Hypoglossal Nerve Stimulation ◽  
Obstructive Sleep

Objective: There is a high prevalence of obstructive sleep apnea (OSA) in pediatric and adult Down Syndrome (DS) patients that is refractory to adenotonsillectomy and continuous positive airway pressure. Newer treatment modalities have emerged with improved outcomes. The objective is to provide an updated systematic review and meta-analysis to analyze the clinical outcomes of OSA in pediatric and adult DS patients with hypoglossal nerve stimulation using Inspire, midline posterior glossectomy plus lingual tonsillectomy (MPG + LT), and combined genioglossus advancement plus radiofrequency (GGS + RF). Methods: A comprehensive literature search of PubMed and Google Scholar was performed followed by a meta-analysis. Studies with preoperative and post-operative Apnea Hypopnea Index (AHI) values were included with patients serving as their own control. Results: Across 5 studies, 56 patients were analyzed. The mean reduction in AHI was statistically significant before vs. after procedure ( P < .001 for hypoglossal nerve stimulation using Inspire with a paired 2-tailed t-test and P = .031 for MPG + LT). Although individual patient AHI values were unavailable in the GGS + RF study, the standard difference in mean AHI was also significant for GGS + RF with P = .001. Device malfunction was the most common complication for Inspire while postoperative bleeding was observed for MPG + LT and nasopharyngeal obstruction and retropalatal collapse were observed for GGS + RF. Conclusion: This review reveals significant improvement in AHI with Inspire, MPG + LT, and GGS + RF for DS patients with refractory OSA. Further investigation is needed for comparison between these 3 therapies.

scholarly journals Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome

2021 ◽  
Vol 17 (9) ◽  
pp. e1009317
Author(s):  
Ilario De Toma ◽  
Cesar Sierra ◽  
Mara Dierssen
Keyword(s):  
Down Syndrome ◽  
Differential Expression ◽  
Web Application ◽  
Meta Analysis ◽  
Chromosome 21 ◽  
Complex Disorders ◽  
Transcriptomic Data ◽  
Genome Wide ◽  
A Genome ◽  
The Impact

Trisomy of human chromosome 21 (HSA21) causes Down syndrome (DS). The trisomy does not simply result in the upregulation of HSA21--encoded genes but also leads to a genome-wide transcriptomic deregulation, which affect differently each tissue and cell type as a result of epigenetic mechanisms and protein-protein interactions. We performed a meta-analysis integrating the differential expression (DE) analyses of all publicly available transcriptomic datasets, both in human and mouse, comparing trisomic and euploid transcriptomes from different sources. We integrated all these data in a “DS network”. We found that genome wide deregulation as a consequence of trisomy 21 is not arbitrary, but involves deregulation of specific molecular cascades in which both HSA21 genes and HSA21 interactors are more consistently deregulated compared to other genes. In fact, gene deregulation happens in “clusters”, so that groups from 2 to 13 genes are found consistently deregulated. Most of these events of “co-deregulation” involve genes belonging to the same GO category, and genes associated with the same disease class. The most consistent changes are enriched in interferon related categories and neutrophil activation, reinforcing the concept that DS is an inflammatory disease. Our results also suggest that the impact of the trisomy might diverge in each tissue due to the different gene set deregulation, even though the triplicated genes are the same. Our original method to integrate transcriptomic data confirmed not only the importance of known genes, such as SOD1, but also detected new ones that could be extremely useful for generating or confirming hypotheses and supporting new putative therapeutic candidates. We created “metaDEA” an R package that uses our method to integrate every kind of transcriptomic data and therefore could be used with other complex disorders, such as cancer. We also created a user-friendly web application to query Ensembl gene IDs and retrieve all the information of their differential expression across the datasets.

scholarly journals Heart rate variability in individuals with Down syndrome – A systematic review and meta-analysis

2018 ◽  
Vol 213 ◽  
pp. 23-33 ◽  
Author(s):  
Tatiana Dias de Carvalho ◽  
Thais Massetti ◽  
Talita Dias da Silva ◽  
Tânia Brusque Crocetta ◽  
Regiani Guarnieri ◽  
...  
Keyword(s):  
Systematic Review ◽  
Heart Rate ◽  
Heart Rate Variability ◽  
Down Syndrome ◽  
Meta Analysis

Responsiveness of the Test of Basic Motor Skills of Children with Down Syndrome

2009 ◽  
Vol 29 (1) ◽  
pp. 71-85 ◽  
Author(s):  
Marieke E. van den Heuvel ◽  
Inge de Jong ◽  
Peter E. M. Lauteslager ◽  
M. J. M. Volman
Keyword(s):  
Down Syndrome ◽  
Motor Skills ◽  
Children With Down Syndrome

scholarly journals Biomarkers of environmental manganese exposure and associations with childhood neurodevelopment: a systematic review and meta-analysis

2020 ◽  
Vol 19 (1) ◽  
Author(s):  
Weiwei Liu ◽  
Yongjuan Xin ◽  
Qianwen Li ◽  
Yanna Shang ◽  
Zhiguang Ping ◽  
...  
Keyword(s):  
Sex Differences ◽  
Motor Skills ◽  
Meta Analysis ◽  
Fold Increase ◽  
Behavioral Performance ◽  
Cross Sectional ◽  
Manganese Exposure ◽  
Negative Effect ◽  
The Mean ◽  
Cross Sectional Studies

Abstract Background Although prior studies showed a correlation between environmental manganese (Mn) exposure and neurodevelopmental disorders in children, the results have been inconclusive. There has yet been no consistent biomarker of environmental Mn exposure. Here, we summarized studies that investigated associations between manganese in biomarkers and childhood neurodevelopment and suggest a reliable biomarker. Methods We searched PubMed and Web of Science for potentially relevant articles published until December 31th 2019 in English. We also conducted a meta-analysis to quantify the effects of manganese exposure on Intelligence Quotient (IQ) and the correlations of manganese in different indicators. Results Of 1754 citations identified, 55 studies with 13,388 subjects were included. Evidence from cohort studies found that higher manganese exposure had a negative effect on neurodevelopment, mostly influencing cognitive and motor skills in children under 6 years of age, as indicated by various metrics. Results from cross-sectional studies revealed that elevated Mn in hair (H-Mn) and drinking water (W-Mn), but not blood (B-Mn) or teeth (T-Mn), were associated with poorer cognitive and behavioral performance in children aged 6–18 years old. Of these cross-sectional studies, most papers reported that the mean of H-Mn was more than 0.55 μg/g. The meta-analysis concerning H-Mn suggested that a 10-fold increase in hair manganese was associated with a decrease of 2.51 points (95% confidence interval (CI), − 4.58, − 0.45) in Full Scale IQ, while the meta-analysis of B-Mn and W-Mn generated no such significant effects. The pooled correlation analysis revealed that H-Mn showed a more consistent correlation with W-Mn than B-Mn. Results regarding sex differences of manganese associations were inconsistent, although the preliminary meta-analysis found that higher W-Mn was associated with better Performance IQ only in boys, at a relatively low water manganese concentrations (most below 50 μg/L). Conclusions Higher manganese exposure is adversely associated with childhood neurodevelopment. Hair is the most reliable indicator of manganese exposure for children at 6–18 years of age. Analysis of the publications demonstrated sex differences in neurodevelopment upon manganese exposure, although a clear pattern has not yet been elucidated for this facet of our study.

OP01.14: First trimester absent nasal bone to detect fetuses with Down syndrome. A Meta-analysis

2008 ◽  
Vol 32 (3) ◽  
pp. 311-312 ◽  
Author(s):  
L. Tolaymat ◽  
L. Sanchez-Ramos ◽  
A. M. Kaunitz
Keyword(s):  
Down Syndrome ◽  
Meta Analysis ◽  
Nasal Bone ◽  
First Trimester ◽  
Absent Nasal Bone
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