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

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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.

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Authors and Affiliations

  1. Department of Psychology, The Children’s Hospital of Philadelphia, USA

    Sarah E. Fine & Marsha Gerdes

  2. University of Pennsylvania School of Nursing, USA

    Alison Weissman & Jennifer Pinto-Martin

  3. Department of Psychology, The Children’s Hospital of Philadelphia, USA

    Elaine H. Zackai, Donna M. McDonald-McGinn & Beverly S. Emanuel

Authors
  1. Sarah E. Fine
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  2. Alison Weissman
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  3. Marsha Gerdes
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  4. Jennifer Pinto-Martin
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  5. Elaine H. Zackai
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  6. Donna M. McDonald-McGinn
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  7. Beverly S. Emanuel
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Correspondence to Sarah E. Fine.

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Fine, S.E., Weissman, A., Gerdes, M. et al. Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome. J Autism Dev Disord 35, 461–470 (2005). https://doi.org/10.1007/s10803-005-5036-9

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