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Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data.

Smith IM, Nichols SL, Issekutz K, Blake K,

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. isabel.smith@iwk.nshealth.ca

Individuals with CHARGE syndrome were identified through the Canadian Pediatric Surveillance Program (CPSP). From this population-based cohort (n=78), we present data on developmental and behavioral characteristics for the first 13 individuals (eight males, five females) for whom assessments are complete. Standardized parent questionnaires on development and behavior were followed by a structured telephone interview, with a specific emphasis on symptoms of autistic spectrum disorder (ASD). Preliminary results confirm that individuals with CHARGE syndrome have relatively low adaptive behavior skills, motor impairments being particularly significant. Most individuals did not present with significant behavior problems; however, evidence of ASD symptoms was judged to be moderate to strong in six of the ten children who were above the age of 4-5 years. Results are discussed with reference to the challenges inherent in the diagnosis of autism in individuals with sensory impairments, and to the implications for understanding the etiology of CHARGE syndrome and of ASD.

Published 24 February 2005 in Am J Med Genet A, 133(3): 248-56.
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