Background: Tourette disorder (TD) and other chronic tic disorders are neurodevelopmental/neuropsychiatric disorders characterized by motor and/or vocal tics. Family studies indicate that TD strongly aggregates within families and that other chronic tic disorders are biologically related such that studies typically combine them into any chronic tic disorder (CTD). Because of stigma, bullying, and comorbidity with other neuropsychiatric disorders, CTDs can severely impact the quality of life of individuals with these disorders. Objectives: The genetic architecture of CTDs is complex and heterogeneous, involving a myriad of genetic variants. Thus, providing familial recurrence risks is based on empirical recurrence risk estimates rather than genetic testing. Because empiric recurrence risks for CTDs have not been published, the purpose of this study is to calculate and report these recurrence risks estimates. Methods: Based on population prevalence and increased risk to different relatives from a large population-based family study, we calculated the empiric recurrent risk estimate for each relative type (full sibling, parents, offspring, all first-degree, and all second-degree). Results: The recurrence risk estimate for CTDs in first-degree relatives is 29.9% [95% confidence interval (CI) = 23.2-38.5%]. The risk is higher in males, 33.7% (95% CI = 26.2-43.3%), than females, 24.3% (95% CI = 18.9-31.3%). Conclusions: Given the complex, heterogeneous genetic architecture of CTDs, individuals concerned about recurrence risk should be referred to genetic counseling. Such counseling should include discussion of the derivation and limitations of these empiric recurrence risk estimates, including the upper and lower limits of the range of risk.

中文翻译：

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慢性抽动性疾病的经验性复发风险估计：对遗传咨询的影响。


背景：抽动秽语障碍（TD）和其他慢性抽动障碍是神经发育/神经精神障碍，以运动和/或发声抽动为特征。家庭研究表明，TD 在家庭内强烈聚集，并且其他慢性抽动障碍在生物学上相关，因此研究通常将它们合并到任何慢性抽动障碍 (CTD) 中。由于耻辱、欺凌以及与其他神经精神疾病的合并症，CTD 可能会严重影响患有这些疾病的个体的生活质量。目标：CTD 的遗传结构复杂且异质，涉及大量遗传变异。因此，提供家族复发风险是基于经验复发风险估计，而不是基因检测。由于 CTD 的经验性复发风险尚未发表，因此本研究的目的是计算并报告这些复发风险估计值。方法：根据一项基于人口的大型家庭研究中的人口患病率和不同亲属的风险增加，我们计算了每种亲属类型（全兄弟姐妹、父母、后代、所有一级和所有二级亲属）的经验性复发风险估计。 ）。结果：一级亲属 CTD 复发风险估计为 29.9% [95% 置信区间 (CI) = 23.2-38.5%]。男性的风险较高，为 33.7%（95% CI = 26.2-43.3%），女性的风险为 24.3%（95% CI = 18.9-31.3%）。结论：鉴于 CTD 复杂、异质的遗传结构，担心复发风险的个体应接受遗传咨询。此类咨询应包括讨论这些经验性复发风险估计的推导和局限性，包括风险范围的上限和下限。