ArticlePloS one2012
Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 48 citations in OpenAlex.
- Autistic Traits, Pragmatic Difficulties, and Adaptive Outcomes in Williams Syndrome: A Systematic Narrative Review.Children (Basel, Switzerland) · 2026Review
- Symptoms of autism in Williams syndrome: a transdiagnostic approach.Scientific reports · 2024Article
- Melatonin in Neurodevelopmental Disorders: A Critical Literature Review.Antioxidants (Basel, Switzerland) · 2023Review
- Pragmatic Profiles of Adults with Fragile X Syndrome and Williams Syndrome.Brain sciences · 2022Article
- Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.International journal of molecular sciences · 2021Review
- An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.Journal of autism and developmental disorders · 2020Observational
- Williams Syndrome Associated With Autism Spectrum Disorder: A Case Report and Review of the Literature.Cureus · 2020Article
- Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.Journal of medical genetics · 2019Article
- Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.Orphanet journal of rare diseases · 2019Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.Journal of autism and developmental disorders · 2018Article
- Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.International journal of molecular sciences · 2017Review
- A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.European journal of human genetics : EJHG · 2017Article
- 7q11.23 Duplication syndrome: Physical characteristics and natural history.American journal of medical genetics. Part A · 2015Article
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.Experimental neurobiology · 2015Review
- Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.American journal of human genetics · 2015Article
- Children with 7q11.23 duplication syndrome: psychological characteristics.American journal of medical genetics. Part A · 2015Article
- Autism spectrum disorder profile in neurofibromatosis type I.Journal of autism and developmental disorders · 2015Article
- Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.Molecular syndromology · 2014Article
- Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.BMC neuroscience · 2014Article
Corrections and comments
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Authors and funding
12 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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. METHODOLOGY: 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.
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.
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