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. 2005 Aug;35(4):461-70.
doi: 10.1007/s10803-005-5036-9.

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

Sarah E Fine  1 , Alison Weissman, Marsha Gerdes, Jennifer Pinto-Martin, Elaine H Zackai, Donna M McDonald-McGinn, Beverly S Emanuel
Affiliations

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

Sarah E Fine et al. J Autism Dev Disord. 2005 Aug.

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.

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