The importance of understanding individual differences in Down syndrome

• Main Authors: 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
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2016
• Subjects: Medicine
• Online Access: https://hdl.handle.net/10356/81443; http://hdl.handle.net/10220/40810
• Institution: Nanyang Technological University

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.