Journal of Autism and Developmental Disorders

, Volume 35, Issue 4, pp 461–470 | Cite as

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

  • Sarah E. FineEmail author
  • Alison Weissman
  • Marsha Gerdes
  • Jennifer Pinto-Martin
  • Elaine H. Zackai
  • Donna M. McDonald-McGinn
  • Beverly S. Emanuel


In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children’s caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.


22q11.2 Deletion autism adaptive behavior 


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Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  • Sarah E. Fine
    • 1
    Email author
  • Alison Weissman
    • 2
  • Marsha Gerdes
    • 1
  • Jennifer Pinto-Martin
    • 2
  • Elaine H. Zackai
    • 3
  • Donna M. McDonald-McGinn
    • 3
  • Beverly S. Emanuel
    • 3
  1. 1.Department of Psychology The Children’s Hospital of PhiladelphiaUSA
  2. 2.University of Pennsylvania School of NursingUSA
  3. 3.Department of Psychology The Children’s Hospital of PhiladelphiaUSA

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