This page shows you your search results in order of relevance. This is page number 13.

Order by Relevance | Date

Total 981256 results found since Jan 2013.

Embedding key word sign prompts in a shared book reading activity: The impact on communication between children with Down syndrome and their parents
CONCLUSIONS & IMPLICATIONS: This study shows that the simple act of embedding key word signs into commercially available books, during shared book reading between parents and young children with Down syndrome, positively affects children's participation (initiation and attention) and use of KWS. The use of KWS as a core shared book reading technique may therefore be a fruitful avenue to facilitate growth in the language abilities of young children with Down syndrome.WHAT THIS PAPER ADDS: What is already known on this subject Most children with Down syndrome have significant speech and language difficulties, with relative s...
Source: International Journal of Language and Communication Disorders - December 31, 2022 Category: Speech-Language Pathology Authors: Pauline Frizelle Rebecca Allenby Elizabeth Hassett Orlaith Holland Eimear Ryan Darren Dahly Ciara O'Toole Source Type: research

Reporting Down syndrome on the death certificate for Alzheimer disease/unspecified dementia deaths
ConclusionThe findings of this study highlight the importance of accurate mortality data for studying and addressing population health trends. The current practice of reporting Down syndrome as the underlying cause of death rather than the disease responsible for death needs to be reconsidered and modified. If not, people with Down syndrome may be further marginalized within dementia related support and research.
Source: PLoS One - February 13, 2023 Category: Biomedical Science Authors: Scott D. Landes Source Type: research

Extra Chromosome Silenced in Down Syndrome Cells
Amazing news was announced in the field of gene therapy this week. Scientists in Massachusetts have taken the cells of a person with Down Syndrome and have silenced the extra 21st chromosome in those cells. The Guardian has the story:Scientists have corrected the genetic fault that causes Down's syndrome – albeit in isolated cells – raising the prospect of a radical therapy for the disorder.In an elegant series of experiments, US researchers took cells from people with DS and silenced the extra chromosome that causes the condition. A treatment based on the work remains a distant hope, but scientists in the field said the...
Source: Mary Meets Dolly - July 18, 2013 Category: Geneticists and Genetics Commentators Tags: Genetic Engineering Source Type: blogs

Prenatal pharmacotherapy rescues brain development in a Down's syndrome mouse model
Intellectual impairment is a strongly disabling feature of Down’s syndrome, a genetic disorder of high prevalence (1 in 700–1000 live births) caused by trisomy of chromosome 21. Accumulating evidence shows that widespread neurogenesis impairment is a major determinant of abnormal brain development and, hence, of intellectual disability in Down’s syndrome. This defect is worsened by dendritic hypotrophy and connectivity alterations. Most of the pharmacotherapies designed to improve cognitive performance in Down’s syndrome have been attempted in Down’s syndrome mouse models during adult life sta...
Source: Brain - February 5, 2014 Category: Neurology Authors: Guidi, S., Stagni, F., Bianchi, P., Ciani, E., Giacomini, A., De Franceschi, M., Moldrich, R., Kurniawan, N., Mardon, K., Giuliani, A., Calza, L., Bartesaghi, R. Tags: Original Articles Source Type: research

Nerve growth factor metabolic dysfunction in Down's syndrome brains
We report a significant increase in proNGF levels in human and mouse Down’s syndrome brains, with a concomitant reduction in the levels of plasminogen and tissue plasminogen activator messenger RNA as well as an increment in neuroserpin expression; enzymes that partake in proNGF maturation. Human Down’s syndrome brains also exhibited elevated zymogenic activity of MMP9, the major NGF-degrading protease. Our results indicate a failure in NGF precursor maturation in Down’s syndrome brains and a likely enhanced proteolytic degradation of NGF, changes which can compromise the trophic support of basal forebrai...
Source: Brain - February 18, 2014 Category: Neurology Authors: Iulita, M. F., Do Carmo, S., Ower, A. K., Fortress, A. M., Aguilar, L. F., Hanna, M., Wisniewski, T., Granholm, A.-C., Buhusi, M., Busciglio, J., Cuello, A. C. Tags: Original Articles Source Type: research

Violence: heightened brain attentional network response is selectively muted in Down syndrome
Conclusions These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated with Down syndrome can modulate the brain’s response to violence and other complex emotive ideas.
Source: Journal of Neurodevelopmental Disorders - June 3, 2015 Category: Neurology Source Type: research

Gorgeous Photo Series Celebrates The Beauty Of Kids With Down Syndrome
A New Jersey photographer and mom of three is celebrating the beauty in kids with Down syndrome through her beautiful portraits. Back in October, Julie Willson gathered together 11 children with Down syndrome and captured their spirits in a series of photos. Their families had responded to the photographer's call for kids with Down syndrome ages 0 to 5, and some traveled as long as three or four hours to participate. Willson drew inspiration for the photo series from her sister Dina. "Dina was born in 1975 with Down syndrome and was the absolute light of our family," she told The Huffington Post, adding that her sist...
Source: Healthy Living - The Huffington Post - June 6, 2016 Category: Consumer Health News Source Type: news

Ventriculomegaly in very‐low‐birthweight infants with Down syndrome
This study comprised retrospective analysis of data from Pediatrix BabySteps Clinical Data Warehouse. The study population consisted of 121 736 VLBW infants (61 869 males, 59 867 females), born between 1996 and 2013, of whom 441 had Down syndrome (233 males, 208 females; mean gestational age 30wks, standard deviation [SD] 2.8wks). Logistic regression was used to calculate odds of ventriculomegaly and IVH for Down syndrome. ResultsPrevalence of ventriculomegaly in Down syndrome was 5.2% compared with 0.8% in other VLBW infants. Multivariate analysis indicated 5.8× odds (95% confidence interval [CI] 3.4–9.7) of ventriculo...
Source: Developmental Medicine and Child Neurology - June 29, 2016 Category: Child Development Authors: Tammy Z Movsas, Alan R Spitzer, Ira H Gewolb Tags: Original Article Source Type: research

Ventriculomegaly in very ‐low‐birthweight infants with Down syndrome
This study comprised retrospective analysis of data from Pediatrix BabySteps Clinical Data Warehouse. The study population consisted of 121 736 VLBW infants (61 869 males, 59 867 females), born between 1996 and 2013, of whom 441 had Down syndrome (233 males, 208 females; mean gestational age 30wks, standard deviation [SD] 2.8wks). Logistic regression was used to calculate odds of ventriculomegaly and IVH for Down syndrome. ResultsPrevalence of ventriculomegaly in Down syndrome was 5.2% compared with 0.8% in other VLBW infants. Multivariate analysis indicated 5.8× odds (95% confidence interval [CI] 3.4–9.7) of ventriculo...
Source: Developmental Medicine and Child Neurology - June 29, 2016 Category: Child Development Authors: Tammy Z Movsas, Alan R Spitzer, Ira H Gewolb Tags: Original Article Source Type: research

Dysfunctions of Mitochondria in Close Association with Strong Perturbation of Long Noncoding RNAs Expression in Down Syndrome.
In this study, we analyzed the RNA sequencing data from Down syndrome-induced pluripotent stem cells (iPSCs) and normal iPSCs. A large number of lncRNAs were identified differentially expressed in Down syndrome-iPSCs. Notably, stronger perturbation was shown in the expression of lncRNAs compared to protein coding genes (Kolmogorov-Smirnov test, P <0.05), suggesting that lncRNAs play more important roles in Down syndrome. Through gene set enrichment analysis and bi-clustering, we also found that most of the differential expressed lncRNAs were closely associated with mitochondrial functions (e.g. mitochondrion organizatio...
Source: The International Journal of Biochemistry and Cell Biology - September 28, 2017 Category: Biochemistry Authors: Qiu JJ, Liu YN, Ren ZR, Yan JB Tags: Int J Biochem Cell Biol Source Type: research

Dynamics in prevalence of Down syndrome in children with congenital heart disease
Conclusion: Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings.What is known:•Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality.•New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients...
Source: European Journal of Pediatrics - January 1, 2018 Category: Pediatrics Source Type: research

Morphine Pharmacokinetics in Children With Down Syndrome Following Cardiac Surgery
Conclusions: This study did not detect a significant difference in morphine pharmacokinetics between Down syndrome and non-Down syndrome children with congenital heart disease.
Source: Pediatric Critical Care Medicine - May 1, 2018 Category: Pediatrics Tags: Cardiac Intensive Care Source Type: research

Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
Publication date: Available online 29 August 2018Source: The Lancet NeurologyAuthor(s): Juan Fortea, María Carmona-Iragui, Bessy Benejam, Susana Fernández, Laura Videla, Isabel Barroeta, Daniel Alcolea, Jordi Pegueroles, Laia Muñoz, Olivia Belbin, Mony J de Leon, Aleksandra Maleska Maceski, Christophe Hirtz, Jordi Clarimón, Sebastián Videla, Constance Delaby, Sylvain Lehmann, Rafael Blesa, Alberto LleóSummaryBackgroundDiagnosis of Alzheimer's disease in Down syndrome is challenging because of the absence of validated diagnostic biomarkers. We investigated the diagnostic performance of plasma and CSF biomarkers in thi...
Source: The Lancet Neurology - August 30, 2018 Category: Neurology Source Type: research

Benefits and Harms of Mammography Screening for Women With Down Syndrome: a Collaborative Modeling Study
ConclusionsThe harm/benefit ratios for various mammography screening strategies in women with Down syndrome are not as favorable as those for average-risk women. The benefit of screening mammography for women with Down syndrome is less pronounced due to lower breast cancer risk and shorter life expectancy.
Source: Journal of General Internal Medicine - August 4, 2019 Category: Internal Medicine Source Type: research