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; Andre Strydom

doi:10.12688/f1000research.7506.1

The importance of understanding individual differences in Down syndrome

F1000Res. 2016 Mar 23:5:F1000 Faculty Rev-389. doi: 10.12688/f1000research.7506.1. eCollection 2016.

Authors

Affiliations

¹ Centre for Brain & Cognitive Development, Birkbeck University of London, London, WC1E 7HX, UK; The London Down Syndrome Consortium (LonDownS), University College London, London, UK.
² The London Down Syndrome Consortium (LonDownS), University College London, London, UK; Division of Psychiatry, University College London, London, W1T 7NF, UK.
³ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; The Blizard Institute, Barts & The London School of Medicine, Queen Mary University of London, London, E1 2AT, UK.
⁴ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; Department of Molecular Neuroscience, University College London Institute of Neurology, London, WC1N 3BG, UK; Division of Life Science, Hong Kong University of Science and Technology, Hong Kong SAR, China.
⁵ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; Department of Neurodegenerative Disease, Institute of Neurology, London, WC1N 3BG, UK.
⁶ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; Department of Molecular Neuroscience, University College London Institute of Neurology, London, WC1N 3BG, UK.
⁷ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; The Blizard Institute, Barts & The London School of Medicine, Queen Mary University of London, London, E1 2AT, UK; Lee Kong Chian School of Medicine, Nanyang Technological University, Biopolis, 138673, Singapore.
⁸ The London Down Syndrome Consortium (LonDownS), University College London, London, UK; Francis Crick Institute, London, NW7 1AA, UK; Department of Medicine, Imperial College London, London, W12 0NN, UK.

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.

Keywords: Alzheimer’s disease; Down syndrome; neurodevelopmental disorder; trisomy 21.

Publication types

Review

Abstract

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