Effectiveness of a web-based protocol for the screening and phenotyping of individuals with tourette syndrome for genetic studies

Authors

  • Crystelle A. Egan,

    Corresponding author
    1. Langley Porter Psychiatric Institute, Department of Psychiatry, University of California, San Francisco, California
    • Department of Psychiatry UCSF, 401 Parnassus Ave, Box F-0984, San Francisco, CA 94143.
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  • Susan E. Marakovitz,

    1. Integrated Center for Child Development, Newton, Massachusetts
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  • Julia A. O'Rourke,

    1. Department of Pediatrics, Lurie Center for Autism, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Medicine, Laboratory of Computer Science, Massachusetts General Hospital, Boston, Massachusetts
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  • Lisa Osiecki,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
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  • Cornelia Illmann,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Lauren Barton,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Elizabeth McLaughlin,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Rachel Proujansky,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Justin Royal,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Heather Cowley,

    1. Tourette Syndrome Association, Bayside, New York
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  • Martha Rangel-Lugo,

    1. Langley Porter Psychiatric Institute, Department of Psychiatry, University of California, San Francisco, California
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  • David L. Pauls,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
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  • Jeremiah M. Scharf,

    1. Psychiatric Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts
    2. Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts
    3. Department of Neurology, Massachusetts General Hospital; Boston, Massachusetts
    4. Division of Cognitive and Behavioral Neurology, Brigham and Women's Hospital, Boston, Massachusetts
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  • Carol A. Mathews,

    1. Langley Porter Psychiatric Institute, Department of Psychiatry, University of California, San Francisco, California
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  • for the Tourette Syndrome Association International Consortium for Genetics


  • The authors have no conflicts of interest to declare.

  • How to Cite this Article: Egan CA, Marakovitz SE, O'Rourke JA, Osiecki L, Illmann C, Barton L, McLaughlin E, Proujansky R, Royal J, Cowley H, Rangel-Lugo M, Pauls DL, Scharf JM, Mathews CA for the TSAICG. 2012. Effectiveness of a Web-Based Protocol for the Screening and Phenotyping of Individuals With Tourette Syndrome for Genetic Studies. Am J Med Genet Part B 159B:987–996.

Abstract

Genome-wide association studies (GWAS) and other emerging technologies offer great promise for the identification of genetic risk factors for complex psychiatric disorders, yet such studies are constrained by the need for large sample sizes. Web-based collection offers a relatively untapped resource for increasing participant recruitment. Therefore, we developed and implemented a novel web-based screening and phenotyping protocol for genetic studies of Tourette syndrome (TS), a childhood-onset neuropsychiatric disorder characterized by motor and vocal tics. Participants were recruited over a 13-month period through the membership of the Tourette Syndrome Association (TSA; n = 28,878). Of the TSA members contacted, 4.3% (1,242) initiated the questionnaire, and 79.5% (987) of these were enrollment eligible. 63.9% (631) of enrolled participants completed the study by submitting phenotypic data and blood specimens. Age was the only variable that predicted study completion; children and young adults were significantly less likely to be study completers than adults 26 and older. Compared to a clinic-based study conducted over the same time period, the web-based method yielded a 60% larger sample. Web-based participants were older and more often female; otherwise, the sample characteristics did not differ significantly. TS diagnoses based on the web-screen demonstrated 100% accuracy compared to those derived from in-depth clinical interviews. Our results suggest that a web-based approach is effective for increasing the sample size for genetic studies of a relatively rare disorder and that our web-based screen is valid for diagnosing TS. Findings from this study should aid in the development of web-based protocols for other disorders. © 2012 Wiley Periodicals, Inc.

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