title: Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.
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.
authors.affiliation: Department of Psychology, The Children's Hospital of Philadelphia, USA. Sarah_fine@brown.edu
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Fine
authors.forename: Alison
authors.initials: A
authors.lastname: Weissman
authors.forename: Marsha
authors.initials: M
authors.lastname: Gerdes
authors.forename: Jennifer
authors.initials: J
authors.lastname: Pinto-Martin
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
mesh_terms: D000223:Adaptation, Psychological; D001321:Autistic Disorder / Q000235:genetics* / Q000523:psychology*; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology; D007406:Interview, Psychological; D008403:Mass Screening / Q000379:methods; D015588:Observer Variation; D011581:Psychological Tests; D011795:Surveys and Questionnaires