eprintid: 1481543
rev_number: 33
eprint_status: archive
userid: 608
dir: disk0/01/48/15/43
datestamp: 2016-04-17 17:12:40
lastmod: 2021-10-01 23:41:20
status_changed: 2016-04-29 15:33:54
type: article
metadata_visibility: show
creators_name: Karmiloff-Smith, A
creators_name: Al-Janabi, T
creators_name: D'Souza, H
creators_name: Groet, J
creators_name: Massand, E
creators_name: Mok, K
creators_name: Startin, C
creators_name: Fisher, E
creators_name: Hardy, J
creators_name: Nizetic, D
creators_name: Tybulewicz, V
creators_name: Strydom, A
title: The importance of understanding individual differences in Down syndrome
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D79
divisions: D07
divisions: F85
divisions: F86
keywords: Alzheimer’s disease, Down syndrome, neurodevelopmental disorder, trisomy 21
note: Copyright © 2016 Karmiloff-Smith A et al. This is an open access article distributed under the terms of the Creative Commons Attribution Licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) is/are employees of the US Government and therefore domestic copyright protection in USA does not apply to this work. The work may be protected under the copyright laws of other jurisdictions when used in those jurisdictions.
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.
date: 2016-03-23
date_type: published
official_url: http://dx.doi.org/10.12688/f1000research.7506.1
oa_status: green
full_text_type: pub
pmcid: PMC4806704
language: eng
primo: open
primo_central: open_green
article_type_text: Journal Article
verified: verified_manual
elements_id: 1122826
doi: 10.12688/f1000research.7506.1
lyricists_name: Al-Janabi, Tamara
lyricists_name: Fisher, Elizabeth
lyricists_name: Hardy, John
lyricists_name: Mok, Kin Ying
lyricists_name: Smalley, June
lyricists_name: Startin, Carla
lyricists_name: Strydom, Andre
lyricists_id: TALJA52
lyricists_id: EMCFI97
lyricists_id: JHARD28
lyricists_id: BKMOK09
lyricists_id: JASMA87
lyricists_id: CMSTA09
lyricists_id: ASTRY65
full_text_status: public
publication: F1000Research
volume: 5
article_number: 389
event_location: England
issn: 2046-1402
citation:        Karmiloff-Smith, A;    Al-Janabi, T;    D'Souza, H;    Groet, J;    Massand, E;    Mok, K;    Startin, C;                     ... Strydom, A; + view all <#>        Karmiloff-Smith, A;  Al-Janabi, T;  D'Souza, H;  Groet, J;  Massand, E;  Mok, K;  Startin, C;  Fisher, E;  Hardy, J;  Nizetic, D;  Tybulewicz, V;  Strydom, A;   - view fewer <#>    (2016)    The importance of understanding individual differences in Down syndrome.                   F1000Research , 5     , Article 389.  10.12688/f1000research.7506.1 <https://doi.org/10.12688/f1000research.7506.1>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1481543/1/Startin_The%20importance%20of%20understanding%20individual%20differences%20in%20Down%20syndrome.pdf