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The importance of understanding individual differences in Down syndrome

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 t...

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Autores principales: Karmiloff-Smith, Annette, Al-Janabi, Tamara, D'Souza, Hana, Groet, Jurgen, Massand, Esha, Mok, Kin, Startin, Carla, Fisher, Elizabeth, Hardy, John, Nizetic, Dean, Tybulewicz, Victor, Strydom, Andre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806704/
https://www.ncbi.nlm.nih.gov/pubmed/27019699
http://dx.doi.org/10.12688/f1000research.7506.1
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author Karmiloff-Smith, Annette
Al-Janabi, Tamara
D'Souza, Hana
Groet, Jurgen
Massand, Esha
Mok, Kin
Startin, Carla
Fisher, Elizabeth
Hardy, John
Nizetic, Dean
Tybulewicz, Victor
Strydom, Andre
author_facet Karmiloff-Smith, Annette
Al-Janabi, Tamara
D'Souza, Hana
Groet, Jurgen
Massand, Esha
Mok, Kin
Startin, Carla
Fisher, Elizabeth
Hardy, John
Nizetic, Dean
Tybulewicz, Victor
Strydom, Andre
author_sort Karmiloff-Smith, Annette
collection PubMed
description 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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spelling pubmed-48067042016-03-25 The importance of understanding individual differences in Down syndrome Karmiloff-Smith, Annette Al-Janabi, Tamara D'Souza, Hana Groet, Jurgen Massand, Esha Mok, Kin Startin, Carla Fisher, Elizabeth Hardy, John Nizetic, Dean Tybulewicz, Victor Strydom, Andre F1000Res Review 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. F1000Research 2016-03-23 /pmc/articles/PMC4806704/ /pubmed/27019699 http://dx.doi.org/10.12688/f1000research.7506.1 Text en Copyright: © 2016 Karmiloff-Smith A et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, 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.
spellingShingle Review
Karmiloff-Smith, Annette
Al-Janabi, Tamara
D'Souza, Hana
Groet, Jurgen
Massand, Esha
Mok, Kin
Startin, Carla
Fisher, Elizabeth
Hardy, John
Nizetic, Dean
Tybulewicz, Victor
Strydom, Andre
The importance of understanding individual differences in Down syndrome
title The importance of understanding individual differences in Down syndrome
title_full The importance of understanding individual differences in Down syndrome
title_fullStr The importance of understanding individual differences in Down syndrome
title_full_unstemmed The importance of understanding individual differences in Down syndrome
title_short The importance of understanding individual differences in Down syndrome
title_sort importance of understanding individual differences in down syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806704/
https://www.ncbi.nlm.nih.gov/pubmed/27019699
http://dx.doi.org/10.12688/f1000research.7506.1
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