The importance of understanding individual differences in Down syndrome

Annette Karmiloff-Smith; Tamara Al-Janabi; Hana D'Souza; Jurgen Groet; Esha Massand; Kin Mok; Carla Startin; Elizabeth Fisher; John Hardy; Dean Nizetic; Victor Tybulewicz; André Strydom

doi:10.12688/f1000research.7506.1

The importance of understanding individual differences in Down syndrome

Annette Karmiloff-Smith, Tamara Al-Janabi, Hana D'Souza, Jurgen Groet, Esha Massand, Kin Mok, Carla Startin, Elizabeth Fisher, John Hardy, Dean Nizetic, Victor Tybulewicz, André Strydom

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English
Journal	F1000 Research
DOIs	https://doi.org/10.12688/f1000research.7506.1
Publication status	Published - 23 Mar 2016

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10.12688/f1000research.7506.1Licence: CC BY

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title = "The importance of understanding individual differences in Down syndrome",

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{\textquoteright}s disease in this high-risk population.",

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T1 - The importance of understanding individual differences in Down syndrome

AU - Karmiloff-Smith, Annette

AU - Al-Janabi, Tamara

AU - D'Souza, Hana

AU - Groet, Jurgen

AU - Massand, Esha

AU - Mok, Kin

AU - Startin, Carla

AU - Fisher, Elizabeth

AU - Hardy, John

AU - Nizetic, Dean

AU - Tybulewicz, Victor

AU - Strydom, André

PY - 2016/3/23

Y1 - 2016/3/23

N2 - 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.

AB - 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.

UR - http://f1000research.com/articles/5-389/v1

U2 - 10.12688/f1000research.7506.1

DO - 10.12688/f1000research.7506.1

M3 - Review article

JO - F1000 Research

JF - F1000 Research

ER -

The importance of understanding individual differences in Down syndrome

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