Journal of Autism and Developmental Disorders

, Volume 44, Issue 4, pp 739–746 | Cite as

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
Original Paper

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 

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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Kathleen Angkustsiri
    • 1
    • 2
  • Beth Goodlin-Jones
    • 2
    • 3
  • Lesley Deprey
    • 2
  • Khyati Brahmbhatt
    • 2
    • 3
  • Susan Harris
    • 2
  • Tony J. Simon
    • 2
    • 3
  1. 1.Department of PediatricsUniversity of California at Davis Medical CenterSacramentoUSA
  2. 2.MIND InstituteUniversity of California at DavisSacramentoUSA
  3. 3.Department of Psychiatry and Behavioral SciencesUniversity of California at DavisSacramentoUSA

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