Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
<h4>Background</h4>Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the po...
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2012
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oai:doaj.org-article:a669705072ae42f78cddc37bb1cc2cdd2021-11-18T07:25:59ZAutistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.1932-620310.1371/journal.pone.0030778https://doaj.org/article/a669705072ae42f78cddc37bb1cc2cdd2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22412832/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder.<h4>Methodology</h4>The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH.<h4>Findings</h4>FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time.<h4>Conclusions</h4>The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism.Sylvie TordjmanGeorge M AndersonMichel BotbolAnnick ToutainPierre SardaMichèle CarlierPascale Saugier-VeberClarisse BaumannDavid CohenCéline LagneauxAnne-Claude TabetAlain VerloesPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 3, p e30778 (2012) |
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Medicine R Science Q Sylvie Tordjman George M Anderson Michel Botbol Annick Toutain Pierre Sarda Michèle Carlier Pascale Saugier-Veber Clarisse Baumann David Cohen Céline Lagneaux Anne-Claude Tabet Alain Verloes Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| description |
<h4>Background</h4>Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder.<h4>Methodology</h4>The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH.<h4>Findings</h4>FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time.<h4>Conclusions</h4>The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism. |
| format |
article |
| author |
Sylvie Tordjman George M Anderson Michel Botbol Annick Toutain Pierre Sarda Michèle Carlier Pascale Saugier-Veber Clarisse Baumann David Cohen Céline Lagneaux Anne-Claude Tabet Alain Verloes |
| author_facet |
Sylvie Tordjman George M Anderson Michel Botbol Annick Toutain Pierre Sarda Michèle Carlier Pascale Saugier-Veber Clarisse Baumann David Cohen Céline Lagneaux Anne-Claude Tabet Alain Verloes |
| author_sort |
Sylvie Tordjman |
| title |
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| title_short |
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| title_full |
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| title_fullStr |
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| title_full_unstemmed |
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. |
| title_sort |
autistic disorder in patients with williams-beuren syndrome: a reconsideration of the williams-beuren syndrome phenotype. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/a669705072ae42f78cddc37bb1cc2cdd |
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