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Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients
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 7...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Research Foundation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362742/ https://www.ncbi.nlm.nih.gov/pubmed/22661963 http://dx.doi.org/10.3389/fpsyg.2012.00168 |
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author | Karmiloff-Smith, Annette Broadbent, Hannah Farran, Emily K. Longhi, Elena D’Souza, Dean Metcalfe, Kay Tassabehji, May Wu, Rachel Senju, Atsushi Happé, Francesca Turnpenny, Peter Sansbury, Francis |
author_facet | Karmiloff-Smith, Annette Broadbent, Hannah Farran, Emily K. Longhi, Elena D’Souza, Dean Metcalfe, Kay Tassabehji, May Wu, Rachel Senju, Atsushi Happé, Francesca Turnpenny, Peter Sansbury, Francis |
author_sort | Karmiloff-Smith, Annette |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3362742 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Frontiers Research Foundation |
record_format | MEDLINE/PubMed |
spelling | pubmed-33627422012-06-01 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, Rachel Senju, Atsushi Happé, Francesca Turnpenny, Peter Sansbury, Francis Front Psychol Psychology 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. Frontiers Research Foundation 2012-05-30 /pmc/articles/PMC3362742/ /pubmed/22661963 http://dx.doi.org/10.3389/fpsyg.2012.00168 Text en Copyright © 2012 Karmiloff-Smith, Broadbent, Farran, Longhi, D’Souza, Metcalfe, Tassabehji, Wu, Senju, Happé, Turnpenny and Sansbury. http://www.frontiersin.org/licenseagreement 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. |
spellingShingle | Psychology Karmiloff-Smith, Annette Broadbent, Hannah Farran, Emily K. Longhi, Elena D’Souza, Dean Metcalfe, Kay Tassabehji, May Wu, Rachel Senju, Atsushi Happé, Francesca Turnpenny, Peter Sansbury, Francis Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title | Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title_full | Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title_fullStr | Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title_full_unstemmed | Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title_short | Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients |
title_sort | social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients |
topic | Psychology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362742/ https://www.ncbi.nlm.nih.gov/pubmed/22661963 http://dx.doi.org/10.3389/fpsyg.2012.00168 |
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