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?

Authors

    • Department of PediatricsUniversity of California at Davis Medical Center
    • MIND InstituteUniversity of California at Davis
  • Beth Goodlin-Jones
    • MIND InstituteUniversity of California at Davis
    • Department of Psychiatry and Behavioral SciencesUniversity of California at Davis
  • Lesley Deprey
    • MIND InstituteUniversity of California at Davis
  • Khyati Brahmbhatt
    • MIND InstituteUniversity of California at Davis
    • Department of Psychiatry and Behavioral SciencesUniversity of California at Davis
  • Susan Harris
    • MIND InstituteUniversity of California at Davis
  • Tony J. Simon
    • MIND InstituteUniversity of California at Davis
    • Department of Psychiatry and Behavioral SciencesUniversity of California at Davis
Original Paper

DOI: 10.1007/s10803-013-1920-x

Cite this article as:
Angkustsiri, K., Goodlin-Jones, B., Deprey, L. et al. J Autism Dev Disord (2014) 44: 739. doi:10.1007/s10803-013-1920-x

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

Copyright information

© Springer Science+Business Media New York 2013