Assessing the Validity of a Web-Based Phenotyping Tool for Tourette Syndrome

Investigator: Carol Mathews, MD
Sponsor: Tourette Syndrome Association, Inc.

Location(s): United States


Multiple lines of research show that genetic factors contribute to the development of Tourette Syndrome (TS), but these studies also show that the genetic risk factors are quite complex, and that many thousands of participants will be needed to clearly identify specific TS genes. Recruitment and clinical assessment of participants are two of the main obstacles for genetic studies, especially for a relatively rare disorder like TS. Typically, the primary source of participants for studies of TS has been recruitment from TS specialty clinics, with the assistance of the TSA, and has required many years (and even decades) of work. In order to address the problems of recruitment and assessment of individuals with TS for genetic and other types of research studies, the Tourette Syndrome Association International Consortium for Genetics (TSAICG) has developed a web-based recruitment and brief assessment tool, in collaboration with the TSA. To date, we have collected clinical information from over 1800 individuals, and we have DNA for genetic studies on over 1200. However, the web-based questionnaire is much shorter than the usual clinical assessments for TS, obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD), which often accompany TS. Therefore, the web-based screen requires validation against the gold standard clinical interview before this resource is useful to the larger TS research community. 

The aims of this project are to: 
1) Conduct in-depth detailed interviews on 100 to 150 participants in the web-based assessment (in addition to the 100 that are currently being interviewed)

2) Examine the relationship between responses on the web-based assessment and clinical interviews for TS, OCD, and ADHD, both for DSM-IV diagnoses, and for individual symptoms, to establish the validity and utility of the web-based screen for phenotypic assessment of TS and related disorders for research purposes.