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Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome
Authors:Email author" target="_blank">Sarah?E?FineEmail author  Alison?Weissman  Marsha?Gerdes  Jennifer?Pinto-Martin  Elaine?H?Zackai  Donna?M?McDonald-McGinn  Beverly?S?Emanuel
Institution:(1) Department of Psychology, The Children’s Hospital of Philadelphia, USA;(2) University of Pennsylvania School of Nursing, USA;(3) Department of Psychology, The Children’s Hospital of Philadelphia, USA;(4) Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, USA;(5) Brown Medical School, E.P. Bradley Hospital, 1011 Veterans Memorial Parkway, East Providence, RI 02915, USA
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
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