Down syndrome

SE Antonarakis, BG Skotko, MS Rafii… - Nature Reviews …, 2020 - nature.com
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …

People with intellectual disability: what do we know about adulthood and life expectancy?

AMW Coppus - Developmental disabilities research reviews, 2013 - Wiley Online Library
Increases in the life expectancy of people with Intellectual Disability have followed similar
trends to those found in the general population. With the exception of people with severe …

GnRH replacement rescues cognition in Down syndrome

M Manfredi-Lozano, V Leysen, M Adamo, I Paiva… - Science, 2022 - science.org
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 …

Behavioral phenotype of individuals with Down syndrome

RS Chapman, LJ Hesketh - Mental retardation and …, 2000 - Wiley Online Library
Evidence is reviewed for a developmentally‐emerging behavioral phenotype in individuals
with Down syndrome that includes significant delay in nonverbal cognitive development …

Down syndrome phenotypes: the consequences of chromosomal imbalance.

JR Korenberg, XN Chen, R Schipper… - Proceedings of the …, 1994 - National Acad Sciences
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease.
Besides a characteristic set of facial and physical features, DS is associated with congenital …

Four new speech and prosody-voice measures for genetics research and other studies in developmental phonological disorders

LD Shriberg - Journal of Speech, Language, and Hearing Research, 1993 - ASHA
Research in developmental phonological disorders, particularly emerging subgroup studies
using behavioral and molecular genetics, requires qualitative and continuous measurement …

Molecular mapping of Alzheimer‐type dementia in Down's syndrome

VP Prasher, MJ Farrer, AM Kessling… - Annals of …, 1998 - Wiley Online Library
Previous research has hypothesized an association between Alzheimer's disease and the
amyloid precursor protein (APP) gene found on chromosome 21. We report the case of a 78 …

Down syndrome, partial trisomy 21, and absence of Alzheimer's disease: the role of APP

E Doran, D Keator, E Head, MJ Phelan… - Journal of …, 2017 - content.iospress.com
Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down
syndrome (DS) has been linked to increased brain amyloid levels and early-onset …

Language development in children and adolescents with Down syndrome

RS Chapman - The handbook of child language, 1996 - Wiley Online Library
Down Syndrome is a condition brought about by an extra copy of a segment of the long arm
of Chromosome 21 that is associated with characteristic physical features and cognitive …

Down syndrome: cognitive phenotype

W Silverman - Mental retardation and developmental …, 2007 - Wiley Online Library
Down syndrome is the most prevalent cause of intellectual impairment associated with a
genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and …