Department of Neuropsychiatry, UCL Division of Psychiatry, 6th Floor, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.
Department of Psychiatry, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.
Nat Rev Dis Primers. 2017 Feb 2;3:16097. doi: 10.1038/nrdp.2016.97.
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor and phonic tics. Tics usually develop before 10 years of age, exhibit a waxing and waning course and typically improve with increasing age. A prevalence of approximately 1% is estimated in children and adolescents. The condition can result in considerable social stigma and poor quality of life, especially when tics are severe (for example, with coprolalia (swearing tics) and self-injurious behaviours) or when GTS is accompanied by attention-deficit/hyperactivity disorder, obsessive-compulsive disorder or another neuropsychiatric disorder. The aetiology is complex and multifactorial. GTS is considered to be polygenic, involving multiple common risk variants combined with rare, inherited or de novo mutations. These as well as non-genetic factors (such as perinatal events and immunological factors) are likely to contribute to the heterogeneity of the clinical phenotype, the structural and functional brain anomalies and the neural circuitry involvement. Management usually includes psychoeducation and reassurance, behavioural methods, pharmacotherapy and, rarely, functional neurosurgery. Future research that integrates clinical and neurobiological data, including neuroimaging and genetics, is expected to reveal the pathogenesis of GTS at the neural circuit level, which may lead to targeted interventions.
妥瑞氏综合征(Gilles de la Tourette syndrome,GTS)是一种儿童期起病的神经发育障碍,其特征为多种运动性和发声性抽搐。抽搐通常在 10 岁之前出现,呈时轻时重的波动性病程,且通常随年龄增长而改善。据估计,儿童和青少年中的患病率约为 1%。该病症可能导致相当大的社会耻辱和生活质量下降,尤其是当抽搐严重(例如出现秽语癖(咒骂抽搐)和自残行为)或妥瑞氏综合征伴有注意力缺陷多动障碍、强迫症或其他神经精神障碍时。病因复杂且涉及多种因素。妥瑞氏综合征被认为是多基因的,涉及多个常见的风险变异体,加上罕见的、遗传的或新生的突变。这些以及非遗传因素(如围产期事件和免疫因素)可能导致临床表型、结构和功能脑异常以及神经回路受累的异质性。管理通常包括心理教育和安慰、行为方法、药物治疗以及很少的功能性神经外科手术。预计未来将整合临床和神经生物学数据(包括神经影像学和遗传学)的研究,揭示神经回路水平上妥瑞氏综合征的发病机制,这可能会导致针对该疾病的干预措施。