title: Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?
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.
authors.affiliation: Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA, USA, kathleen.angkustsiri@ucdmc.ucdavis.edu.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Angkustsiri
authors.forename: Beth
authors.initials: B
authors.lastname: Goodlin-Jones
authors.forename: Lesley
authors.initials: L
authors.lastname: Deprey
authors.forename: Khyati
authors.initials: K
authors.lastname: Brahmbhatt
authors.forename: Susan
authors.initials: S
authors.lastname: Harris
authors.forename: Tony J
authors.initials: TJ
authors.lastname: Simon
mesh_terms: D000293:Adolescent; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics / Q000523:psychology*; D003142:Communication; D004062:DiGeorge Syndrome / Q000235:genetics / Q000523:psychology*; D058068:Endophenotypes; D005260:Female; D006801:Humans; D008297:Male; D010290:Parents; D012919:Social Behavior; D011795:Surveys and Questionnaires
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