Cancer Institute A national cancer institute
designated cancer center

Philip W. Lavori

Publication Details

  • Assessing risk for the Tourette spectrum of disorders among first-degree relatives of probands with Tourette syndrome AMERICAN JOURNAL OF MEDICAL GENETICS Santangelo, S. L., Pauls, D. L., Lavori, P. W., Goldstein, J. M., Faraone, S. V., Tsuang, M. T. 1996; 67 (1): 107-116


    Previous studies have indicated that genetic investigations of Tourette syndrome (TS) should focus on a phenotype that includes not only TS, but chronic tics (CT) and obsessive-compulsive disorder (OCD) as well. These studies have shown that sex may play a role in determining which of the disorders in the TS spectrum is expressed in a susceptible individual. Female relatives of TS probands far more often express OCD, while male relatives more often express TS or CT. Data from the Yale Family Study of TS were used to model risk to first-degree relatives of probands with TS for a variety of TS disease phenotypes. Risk to relatives was modeled using multivariate Cox regression analysis, a method appropriate for assessing risk when there is correlation among disease onsets. This is the first known application of this method to family data. The study identified two proband characteristics that increase the risk for disease onset among both male and female relatives for all TS spectrum disorders, lending credence to the hypothesis that TS spectrum disorders share a common etiology. These were a relatively younger age-at-onset, and no experience of simple motor tics. The predictive ability of two additional factors varied by both sex and disease phenotype. These characteristics, i.e., proband onset with compulsive tics, and proband onset with range, appear to increase risk primarily in female relatives, and for the OCD part of the spectrum.

    View details for Web of Science ID A1996TY40300021

    View details for PubMedID 8678107

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