Our research in Tourette Syndrome (TS) and tic disorders encompasses genetics, studies of environmental contributors to the development of TS, and studies examining the clinical presentation and phenomenology of TS and tic disorders.
Genetics of TS: In collaboration with the Tourette Syndrome Association International Consortium for Genetics (TSAICG), we are actively involved in identifying genes that cause susceptibility to TS. Initial results of these studies have identified a region on chromosome 2 that is associated with TS in families. See this paper for more details: Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families. (Free article)
We continue to pursue these studies in order to confirm the initial findings, and to identify new regions of interest along the genome. If you are interested in participating in our genetic studies, a doctor has given you a diagnosis of TS, and you live in the United States, please go to the study website (https:\\findtsgenes.org).
Environment and TS: In conjunction with investigators at the Massachussetts General Hospital and in the UK, we are examining the relationship between tic disorders and the environment, including factors such as prenatal maternal smoking, birthweight, complications of pregnancy, etc. This study uses a cohort of children who were born in 1991 and 1992 in the United Kingdom and have been followed for many years (the Avon Longitudinal Study of Parents and Children, or ALSPAC). This work is based on previous studies, including some from our group, that suggest that some factors during pregnancy and delivery may contribute to the development of and/or severity of TS. For more information, see this paper: Association between maternal smoking and increased symptom severity in Tourette’s syndrome. (Free article)
Clinical presentation of TS: These studies focus on the variety of ways that tics and related symptoms can present in TS, and how this may relate to genetics, development, environment and culture. These studies confirm that TS is a complex disorder, with many associated symptoms. However, they also suggest that there may be subtypes of TS that may have different genetic or environmental causes. These studies are in the early phases, and there is still much more work to be done.See this paper for a review: Clinical phenomenology and phenotype variability in Tourette syndrome.