Abstract
BackgroundWilliams-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.MethodologyThe 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.FindingsFISH 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.ConclusionsThe 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.
Highlights
Williams-Beuren syndrome (WBS), first described in 1961 and 1962, is a rare genetic developmental disorder with a reported prevalence of between 1/7,500 and 1/25,000 live births [1,2,3,4]
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 cooccurrence 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
Summary
Williams-Beuren syndrome (WBS), first described in 1961 and 1962, is a rare genetic developmental disorder with a reported prevalence of between 1/7,500 and 1/25,000 live births [1,2,3,4]. WBS syndrome is caused by an hemizygous deletion of contiguous genes on the long arm of chromosome 7 at 7q11.23 thought to arise from recombination between misaligned repeat sequences flanking the critical region during meiosis [5,6,7]. Based on direct clinical observation of the patient by two independent child psychiatrists, a diagnosis of autistic disorder was made according to the criteria of DSM-IV-TR [38], ICD-10 and CFTMEA [39]. Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder
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