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Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients

Karmiloff-Smith, A; Broadbent, H; Farran, EK; Longhi, E; D'Souza, D; Metcalfe, K; Tassabehji, M; ... Sansbury, F; + view all (2012) Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients. Frontiers in Psychology , 3 , Article 168. 10.3389/fpsyg.2012.00168. Green open access

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Abstract

Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in the WS critical region (WSCR) of chromosome 7q11.23 to this unusual social profile. In this paper, we provide details of two case studies of children with partial genetic deletions in the WSCR: an 11-year-old female with a deletion of 24 of the 28 WS genes, and a 14-year-old male who presents with the opposite profile, i.e., the deletion of only four genes at the telomeric end of the WSCR. We tested these two children on a large battery of standardized and experimental social perception and social cognition tasks - both implicit and explicit - as well as standardized social questionnaires and general psychometric measures. Our findings reveal a partial WS socio-cognitive profile in the female, contrasted with a more autistic-like profile in the male. We discuss the implications of these findings for genotype/phenotype relations, as well as the advantages and limitations of animal models and of case study approaches.

Type: Article
Title: Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fpsyg.2012.00168
Publisher version: http://dx.doi.org/10.3389/fpsyg.2012.00168
Language: English
Additional information: Copyright: © 2012 Karmiloff-Smith, Broadbent, Farran, Longhi, D’Souza, Metcalfe, Tassabehji, Wu, Senju, Happé, Turnpenny and Sansbury. This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.
Keywords: Williams syndrome, autism spectrum disorders, genetic disorders, genotype/phenotype relations, partial deletion patients, social cognition
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Education
UCL > Provost and Vice Provost Offices > School of Education > UCL Institute of Education
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Div of Psychology and Lang Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Div of Psychology and Lang Sciences > Clinical, Edu and Hlth Psychology
URI: https://discovery.ucl.ac.uk/id/eprint/1474898
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