No abstract

Aim: To describe the symptoms, onset, heredity, pre‐/perinatal events and socio‐economic status in Tourette syndrome (TS) and other tic disorders. Methods: From a total population of 4479 children, 25 (0.6%) with TS, 58 (1.3%) with chronic motor/vocal tics (CMVT) and 214 (4.8%) with transient tics (TT) in the last year were found. A three‐stage procedure was used: tic screening, telephone interview and clinical assessment. The TS group was compared with 25 children with TT and 25 controls without tics. Results: The mean age of the first symptoms of TS was significantly lower than the onset of CMVT. All except one with TS had contact with medical services. The tics of children with TS were significantly more severe than the tics of others. Younger age of onset of TS indicated more severe tics. Parents and siblings of children with TS had an increased prevalence of tic disorders, obsessive‐compulsive behaviour (OCD), attention‐deficit/hyperactivity disorder (ADHD) and depression. Eighty per cent had a first‐degree relative with a psychiatric disorder. A non‐significant increase with regards to reduced optimality score in the pre‐, peri‐ or neonatal periods was found in children with TS compared to controls. No differences were found concerning socio‐economic status. Conclusion: Almost all children from a total population with TS have sought help from medical services. An increased prevalence of tics, OCD, depression or ADHD was found in the parents/siblings of children with TS, which draws attention to the importance of thorough investigation of family members.

The aim of the study was to find the epidemiological distribution of tic disorders and Tourette syndrome (TS) in Swedish school children aged 7 to 15 years. A total population of 4,479 children and their parents were asked to fill in a questionnaire covering both motor and vocal tics. A three-stage procedure was used: screening, interview, and clinical investigation. Two hundred and ninety-seven children (190 males, 107 females) were found to have tics. TS, according to DSM-IV criteria, was found in 0.6% of the total population, another 0.8% had chronic motor tics, and 0.5% had chronic vocal tics. Further, 4.8% of the children had transient tics. All together 6.6% of 7- to 15-year-old children currently had or had experienced some kind tic disorder during the last year. Prevalence of different tic disorders was higher among younger children and in males, and was highly associated with school dysfunction. The prevalence of TS was higher than was previously thought but other tic disorders were more common in this childhood population.

SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 ( cadherin EGF LAG seven-pass G-type receptor 3 ); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk.

Almost all children from a total population with TS have sought help from medical services. An increased prevalence of tics, OCD, depression or ADHD was found in the parents/siblings of children with TS, which draws attention to the importance of thorough investigation of family members.