Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): Autism spectrum disorder or a different endophenotype?

Kathleen Angkustsiri, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris, Tony J Simon

Research output: Contribution to journalArticle

42 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)739-746
Number of pages8
JournalJournal of Autism and Developmental Disorders
Issue number4
StatePublished - 2014



  • 22q11.2 deletion syndrome
  • ASD
  • Autism
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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