Article

Journal of Autism and Developmental Disorders

, Volume 35, Issue 4, pp 461-470

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

  • Sarah E. FineAffiliated withDepartment of Psychology, The Children’s Hospital of Philadelphia Email author 
  • , Alison WeissmanAffiliated withUniversity of Pennsylvania School of Nursing
  • , Marsha GerdesAffiliated withDepartment of Psychology, The Children’s Hospital of Philadelphia
  • , Jennifer Pinto-MartinAffiliated withUniversity of Pennsylvania School of Nursing
  • , Elaine H. ZackaiAffiliated withDepartment of Psychology, The Children’s Hospital of Philadelphia
  • , Donna M. McDonald-McGinnAffiliated withDepartment of Psychology, The Children’s Hospital of Philadelphia
  • , Beverly S. EmanuelAffiliated withDepartment of Psychology, The Children’s Hospital of Philadelphia

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Abstract

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.

Keywords

22q11.2 Deletion autism adaptive behavior