Opportunities, barriers, and recommendations in Down syndrome research
JA Hendrix, A Amon, L Abbeduto… - … science of rare …, 2021 - journals.sagepub.com
BACKGROUND: Recent advances in medical care have increased life expectancy and
improved the quality of life for people with Down syndrome (DS). These advances are the …
improved the quality of life for people with Down syndrome (DS). These advances are the …
New approaches to studying early brain development in Down syndrome
AA Baburamani, PA Patkee, T Arichi… - … medicine & child …, 2019 - Wiley Online Library
Down syndrome is the most common genetic developmental disorder in humans and is
caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a …
caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a …
Trisomy 21 consistently activates the interferon response
KD Sullivan, HC Lewis, AA Hill, A Pandey, LP Jackson… - Elife, 2016 - elifesciences.org
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting
downstream of the trisomy remain ill defined. Using complementary genomics analyses, we …
downstream of the trisomy remain ill defined. Using complementary genomics analyses, we …
Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo …
Background Early cognitive intervention is the only routine therapeutic approach used for
amelioration of intellectual deficits in individuals with Down's syndrome, but its effects are …
amelioration of intellectual deficits in individuals with Down's syndrome, but its effects are …
Association of dementia with mortality among adults with Down syndrome older than 35 years
Importance This work quantifies the fatal burden of dementia associated with Alzheimer
disease in individuals with Down syndrome (DS). Objective To explore the association of …
disease in individuals with Down syndrome (DS). Objective To explore the association of …
Outcome measures for clinical trials in Down syndrome
Increasingly individuals with intellectual and developmental disabilities, including Down
syndrome, are being targeted for clinical trials. However, a challenge exists in effectively …
syndrome, are being targeted for clinical trials. However, a challenge exists in effectively …
Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors
Abstract Trisomy 21 (T21) causes Down syndrome (DS), affecting immune and neurological
function by ill-defined mechanisms. Here we report a large metabolomics study of plasma …
function by ill-defined mechanisms. Here we report a large metabolomics study of plasma …
Adaptive behaviour, executive function and employment in adults with Down syndrome
Abstract Background Individuals with Down syndrome (DS) demonstrate difficulties with
aspects of executive function (EF) and adaptive behaviour across the lifespan. There is a …
aspects of executive function (EF) and adaptive behaviour across the lifespan. There is a …
Assessment of cognitive scales to examine memory, executive function and language in individuals with Down syndrome: implications of a 6-month observational …
X Liogier d'Ardhuy, JO Edgin, C Bouis… - Frontiers in Behavioral …, 2015 - frontiersin.org
Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability.
Individuals with DS have considerable deficits in intellectual functioning (ie, low intellectual …
Individuals with DS have considerable deficits in intellectual functioning (ie, low intellectual …
Cognitive decline and dementia in Down syndrome
R Hithersay, S Hamburg, B Knight… - Current opinion in …, 2017 - journals.lww.com
Clinical trials of treatments, particularly in the presymptomatic phase of Alzheimer's disease,
are important to consider in individuals with Down syndrome given their high dementia …
are important to consider in individuals with Down syndrome given their high dementia …