Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained

Quality of life in isolated dystonia: Non-motor manifestations matter

Objective: To evaluate the relationship between health-related quality of life (HR-QoL) and both physical and psychiatric factors in a large, international, multicenter cohort of isolated dystonia patients, the Dystonia Coalition.Methods: Natural history data from 603 patients with isolated dystonia (median age 57 years (IQR: 48-64 years), 67.0% female) were prospectively acquired and analyzed. HR-QoL (RAND 36-Item Health Survey), severity of depressive symptoms, generalized anxiety (Hospital Anxiety and Depression Scale) and social anxiety (Liebowitz Social Anxiety Scale) were assessed. Dystonia severity (Burke-Fahn-Marsden Dystonia Rating Scale) and dystonic tremor were examined. Statistical predictors of HR-QoL were calculated using saturated path analysis.Results: Reduced HR-QoL was strongly associated with the degree of depressive symptoms and generalized and social anxiety (8/8 RAND36 subscales, p ≤ .001). Increased dystonia severity was associated with worse physical functioning, physical and emotional role functioning, and social functioning (all p ≤ .001). The presence of tremor correlated with worse physical functioning and pain (all p ≤ .006). Younger age was associated with reduced emotional well-being and vitality (all p ≤ .006). There were no HR-QoL differences between sexes.Conclusion: HR-QoL in isolated dystonia is strongly associated with psychiatric and physical features. While current standard of care focus on motor aspects of dystonia, comprehensive care should address both physical and mental aspects of health