Original paper

Journal of Autism and Developmental Disorders

, Volume 37, Issue 9, pp 1776-1786

Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)

  • Kevin M. AntshelAffiliated withState University of New York - Upstate Medical University Email author 
  • , Alka AnejaAffiliated withState University of New York - Upstate Medical University
  • , Leslie StrungeAffiliated withKennedy Krieger Institute
  • , Jena PeeblesAffiliated withState University of New York - Upstate Medical University
  • , Wanda P. FremontAffiliated withState University of New York - Upstate Medical University
  • , Kimberly StalloneAffiliated withState University of New York - Upstate Medical University
  • , Nuria AbdulSaburAffiliated withState University of New York - Upstate Medical University
  • , Anne Marie HigginsAffiliated withState University of New York - Upstate Medical University
  • , Robert J. ShprintzenAffiliated withState University of New York - Upstate Medical University
    • , Wendy R. KatesAffiliated withState University of New York - Upstate Medical UniversityJohns Hopkins University School of Medicine

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Abstract

The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups.

Keywords

Velocardiofacial syndrome 22q11.2 deletion Autism spectrum disorder Amygdala