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The importance of understanding individual differences in Down syndrome

Research output: Contribution to journalArticle

A Karmiloff-Smith, T Al-Janabi, H D'Souza, J Groet, E Massand, K Mok, C Startin, E Fisher, J Hardy, D Nizetic, V Tybulewicz, A Strydom

Original languageEnglish
JournalF1000Research
Volume5
DOIs
E-pub ahead of print23 Mar 2016

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Abstract

In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels-genetic, cellular, neural, cognitive, behavioral, and environmental-constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer's disease in this high-risk population.

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