The authors have no conflicts of interest to declare.
Article first published online: 22 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 159B, Issue 8, pages 987–996, December 2012
How to Cite
Egan, C. A., Marakovitz, S. E., O'Rourke, J. A., Osiecki, L., Illmann, C., Barton, L., McLaughlin, E., Proujansky, R., Royal, J., Cowley, H., Rangel-Lugo, M., Pauls, D. L., Scharf, J. M., Mathews, C. A. and for the Tourette Syndrome Association International Consortium for Genetics (2012), Effectiveness of a web-based protocol for the screening and phenotyping of individuals with tourette syndrome for genetic studies. Am. J. Med. Genet., 159B: 987–996. doi: 10.1002/ajmg.b.32107
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.
- Issue published online: 8 NOV 2012
- Article first published online: 22 OCT 2012
- Manuscript Accepted: 25 SEP 2012
- Manuscript Received: 29 MAY 2012
- National Institute for Neurological Disorders and Stroke (NINDS). Grant Numbers: U01 NS40024-S1, U01 NS40024, MH085057
- Tourette Syndrome Association (TSA)
- rapid phenotyping;
- genome wide association study (GWAS);
- neuropsychiatric disorder
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.