Original Paper

Journal of Autism and Developmental Disorders

, Volume 44, Issue 4, pp 739-746

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

  • Kathleen AngkustsiriAffiliated withDepartment of Pediatrics, University of California at Davis Medical CenterMIND Institute, University of California at Davis Email author 
  • , Beth Goodlin-JonesAffiliated withMIND Institute, University of California at DavisDepartment of Psychiatry and Behavioral Sciences, University of California at Davis
  • , Lesley DepreyAffiliated withMIND Institute, University of California at Davis
  • , Khyati BrahmbhattAffiliated withMIND Institute, University of California at DavisDepartment of Psychiatry and Behavioral Sciences, University of California at Davis
  • , Susan HarrisAffiliated withMIND Institute, University of California at Davis
  • , Tony J. SimonAffiliated withMIND Institute, University of California at DavisDepartment of Psychiatry and Behavioral Sciences, University of California at Davis

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Abstract

High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.

Keywords

Autism ASD 22q11.2 deletion syndrome Velocardiofacial syndrome