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

F1000Research

Victor Tybulewicz¹  John Hardy²  Elizabeth Fisher³  Kin Mok⁴  Carla Startin⁵  Tamara Al-Janabi⁵  Andre Strydom⁵  Dean Nizetic⁶  Jurgen Groet⁷  Hana D'Souza⁸  Annette Karmiloff-Smith⁸  Esha Massand⁸ 

[1] Department of Medicine, Imperial College London, London, W12 0NN, UK;Department of Molecular Neuroscience, University College London Institute of Neurology, London, WC1N 3BG, UK;Department of Neurodegenerative Disease, Institute of Neurology, London, WC1N 3BG, UK;Division of Life Science, Hong Kong University of Science and Technology, Hong Kong SAR, China;Division of Psychiatry, University College London, London,W1T 7NF, UK;Lee Kong Chian School of Medicine, Nanyang Technological University, Biopolis, 138673, Singapore;The Blizard Institute, Barts & The London School of Medicine, Queen Mary University of London, London, E1 2AT, UK;The London Down Syndrome Consortium (LonDownS), University College London, London, UK;

关键词: Behavioral Neuroscience;    Cognitive Neurology & Dementia;    Cognitive Neuroscience;    Developmental & Pediatric Neurology;    Medical Genetics;    Neural Homeostasis;    Neurobiology of Disease & Regeneration;    Neurodevelopment;    Neurogenetics;   

DOI  :  10.12688/f1000research.7506.1

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown