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

Karmiloff-Smith, Annette, Broadbent, Hannah, Farran, Emily K, Longhi, Elena, D'Souza, Dean, Metcalfe, Kay, Tassabehji, May, Wu, Racehl, Senju, Atsushi, Happe, Francesca , Turnpenny, Peter and Sansbury, Francis (2012) Social cognition in Williams syndrome: genotype/phenotype insights from partial deletion patients FRONTIERS IN PSYCHOLOGY, 3, 169.

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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.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Health Sciences
Authors :
Karmiloff-Smith, Annette
Broadbent, Hannah
Farran, Emily
Longhi, Elena
D'Souza, Dean
Metcalfe, Kay
Tassabehji, May
Wu, Racehl
Senju, Atsushi
Happe, Francesca
Turnpenny, Peter
Sansbury, Francis
Date : 30 May 2012
DOI : 10.3389/fpsyg.2012.00168
Copyright Disclaimer : 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, which permits non-commercial use, distribution, and reproduction in other forums, provided the original authors and source are credited.
Uncontrolled Keywords : Social cognition; Williams syndrome; Partial deletion patients; Genetic disorders; Autism spectrum disorders; Genotype/phenotype relations
Depositing User : Diane Maxfield
Date Deposited : 28 Jun 2019 09:20
Last Modified : 28 Jun 2019 09:20

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