The importance of understanding individual differences in Down syndrome

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

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.

Publisher

F1000 Research Ltd

Subject

General Pharmacology, Toxicology and Pharmaceutics,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Medicine

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