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Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection

Abstract  

The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest
in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and
SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall,
the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon
the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in
large-scale genetic studies of individuals with ASD.

  • Content Type Journal Article
  • Category Original Paper
  • Pages 1-8
  • DOI 10.1007/s10803-012-1492-1
  • Authors
    • Julie Davidson, Departments of Pediatrics and Psychiatry, Vanderbilt University, 230 Appleton Place, PMB #74, Nashville, TN 37203, USA
    • Robin P. Goin-Kochel, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    • Lee Anne Green-Snyder, Children’s Hospital of Boston, Boston, MA, USA
    • Rachel J. Hundley, Departments of Pediatrics and Psychiatry, Vanderbilt University, 230 Appleton Place, PMB #74, Nashville, TN 37203, USA
    • Zachary Warren, Departments of Pediatrics and Psychiatry, Vanderbilt University, 230 Appleton Place, PMB #74, Nashville, TN 37203, USA
    • Sarika U. Peters, Departments of Pediatrics and Psychiatry, Vanderbilt University, 230 Appleton Place, PMB #74, Nashville, TN 37203, USA
    • Journal Journal of Autism and Developmental Disorders
    • Online ISSN 1573-3432
    • Print ISSN 0162-3257
Posted in: Journal Article Abstracts on 03/07/2012 | Link to this post on IFP |
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