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Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”?

Authors

  • Zachary Warren,

    Corresponding author
    1. Department of Pediatrics, Vanderbilt University, Nashville, Tennessee
    2. Department of Psychiatry, Vanderbilt University, Nashville, Tennessee
    3. Vanderbilt Kennedy Center/Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt University, Nashville, Tennessee
    • Vanderbilt Kennedy Center / TRIAD, Vanderbilt University, PMB 74, 230 Appleton Pl, Nashville, TN 37203
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  • Alison Vehorn,

    1. Vanderbilt Kennedy Center/Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt University, Nashville, Tennessee
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  • Elizabeth Dohrmann,

    1. Vanderbilt Kennedy Center/Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt University, Nashville, Tennessee
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  • Amy Nicholson,

    1. Department of Psychiatry, Vanderbilt University, Nashville, Tennessee
    2. Vanderbilt Kennedy Center/Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt University, Nashville, Tennessee
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  • James S. Sutcliffe,

    1. Department of Psychiatry, Vanderbilt University, Nashville, Tennessee
    2. Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee
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  • Jeremy Veenstra-VanderWeele

    1. Department of Pediatrics, Vanderbilt University, Nashville, Tennessee
    2. Department of Psychiatry, Vanderbilt University, Nashville, Tennessee
    3. Vanderbilt Kennedy Center/Treatment and Research Institute for Autism Spectrum Disorders, Vanderbilt University, Nashville, Tennessee
    4. Department of Pharmacology, Vanderbilt University, Nashville, Tennessee
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Errata

This article is corrected by:

  1. Errata: Accuracy of Phenotyping Children With Autism Based on Parent Report: What Specifically Do We Gain Phenotyping “Rapidly”? Volume 5, Issue 2, 151, Article first published online: 17 April 2012

  • This article was published online on 3 October 2011. Subsequently, the names of two authors were found to be incorrect, and the correction was published on 24 October 2011.

Abstract

Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. Autism Res2012,5:31–38. © 2011 International Society for Autism Research, Wiley Periodicals, Inc.

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