F1000Research (Mar 2016)

The importance of understanding individual differences in Down syndrome [version 1; referees: 2 approved]

  • 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,
  • Andre Strydom

DOI
https://doi.org/10.12688/f1000research.7506.1
Journal volume & issue
Vol. 5

Abstract

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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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