Down syndrome: Cognitive and behavioral functioning across the lifespan

J Grieco, M Pulsifer, K Seligsohn… - American Journal of …, 2015 - Wiley Online Library
Individuals with Down syndrome (DS) commonly possess unique neurocognitive and
neurobehavioral profiles that emerge within specific developmental periods. These profiles …

Down syndrome: the brain in trisomic mode

M Dierssen - Nature Reviews Neuroscience, 2012 - nature.com
Down syndrome is the most common form of intellectual disability and results from one of the
most complex genetic perturbations that is compatible with survival, trisomy 21. The study of …

Epigallocatechin‐3‐gallate, a DYRK1A inhibitor, rescues cognitive deficits in D own syndrome mouse models and in humans

R De la Torre, S De Sola, M Pons… - Molecular nutrition & …, 2014 - Wiley Online Library
Scope Trisomy for human chromosome 21 results in D own syndrome (DS), which is among
the most complex genetic perturbations leading to intellectual disability. Accumulating data …

Language characteristics of individuals with Down syndrome

GE Martin, J Klusek, B Estigarribia… - Topics in language …, 2009 - journals.lww.com
On average, language and communication characteristics of individuals with Down
syndrome (the most common genetic cause of intellectual disability) follow a consistent …

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype

MA Martens, SJ Wilson… - Journal of Child …, 2008 - Wiley Online Library
This review critically examines the research findings which characterize the cognitive,
behavioral, and neuroanatomical features of Williams syndrome (WS). This article analyzes …

Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

A Meyer-Lindenberg, CB Mervis… - Nature Reviews …, 2006 - nature.com
Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes
on chromosome 7q11. 23, has long intrigued neuroscientists with its unique combination of …

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome

D Valenti, L de Bari, B De Filippis… - Neuroscience & …, 2014 - Elsevier
Clinical manifestations typical of mitochondrial diseases are often present in various genetic
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …

Memory profiles in Down syndrome across development: a review of memory abilities through the lifespan

M Godfrey, NR Lee - Journal of neurodevelopmental disorders, 2018 - Springer
Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory
impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it …

The GABAergic hypothesis for cognitive disabilities in down syndrome

A Contestabile, S Magara, L Cancedda - Frontiers in cellular …, 2017 - frontiersin.org
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …

Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome

A Contestabile, F Benfenati, L Gasparini - Progress in neurobiology, 2010 - Elsevier
Down syndrome (DS) is the leading cause of genetically-defined intellectual disability and
congenital birth defects. Despite being one of the first genetic diseases identified, only …