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The importance of understanding individual differences in Down syndrome

Karmiloff-Smith, A; Al-Janabi, T; D'Souza, H; Groet, J; Massand, E; Mok, K; Startin, C; ... Strydom, A; + view all (2016) The importance of understanding individual differences in Down syndrome. F1000Research , 5 , Article 389. 10.12688/f1000research.7506.1. Green open access

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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.

Type: Article
Title: The importance of understanding individual differences in Down syndrome
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.12688/f1000research.7506.1
Publisher version: http://dx.doi.org/10.12688/f1000research.7506.1
Language: English
Additional information: Copyright © 2016 Karmiloff-Smith A et al. This is an open access article distributed under the terms of the Creative Commons Attribution Licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) is/are employees of the US Government and therefore domestic copyright protection in USA does not apply to this work. The work may be protected under the copyright laws of other jurisdictions when used in those jurisdictions.
Keywords: Alzheimer’s disease, Down syndrome, neurodevelopmental disorder, trisomy 21
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1481543
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