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法国抽动秽语综合征的诊断和管理指南。

French guidelines for the diagnosis and management of Tourette syndrome.

机构信息

Centre de référence national maladie rare "Syndrome Gilles de la Tourette", DMU neurosciences, groupe hospitalier Pitié-Sapêtrière, Sorbonne université, AP-HP, 75013 Paris, France.

Service de neurologie, CHU de Poitiers, 86021 Poitiers, France.

出版信息

Rev Neurol (Paris). 2024 Oct;180(8):818-827. doi: 10.1016/j.neurol.2024.04.005. Epub 2024 May 17.

DOI:10.1016/j.neurol.2024.04.005
PMID:38760282
Abstract

The term "Gilles de la Tourette syndrome", or the more commonly used term "Tourette syndrome" (TS) refers to the association of motor and phonic tics which evolve in a context of variable but frequent psychiatric comorbidity. The syndrome is characterized by the association of several motor tics and at least one phonic tic that have no identifiable cause, are present for at least one year and appear before the age of 18. The presence of coprolalia is not necessary to establish or rule out the diagnosis, as it is present in only 10% of cases. The diagnosis of TS is purely clinical and is based on the symptoms defined by the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). No additional tests are required to confirm the diagnosis of TS. However, to exclude certain differential diagnoses, further tests may be necessary. Very frequently, one or more psychiatric comorbidities are also present, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, anxiety, explosive outbursts, self-injurious behaviors, learning disorders or autism spectrum disorder. The condition begins in childhood around 6 or 7 years of age and progresses gradually, with periods of relative waxing and waning of tics. The majority of patients experience improvement by the end of the second decade of life, but symptoms may persist into adulthood in around one-third of patients. The cause of TS is unknown, but genetic susceptibility and certain environmental factors appear to play a role. The treatment of TS and severe forms of tics is often challenging and requires a multidisciplinary approach (involving the general practitioner (GP), pediatrician, psychiatrist, neurologist, school or occupational physicians, psychologist and social workers). In mild forms, education (of young patients, parents and siblings) and psychological management are usually recommended. Medical treatments, including antipsychotics, are essential in the moderate to severe forms of the disease (i.e. when there is a functional and/or psychosocial discomfort linked to tics). Over the past decade, cognitive-behavioral therapies have been validated for the treatment of tics. For certain isolated tics, botulinum toxin injections may also be useful. Psychiatric comorbidities, when present, often require a specific treatment. For very severe forms of TS, treatment by deep brain stimulation offers real therapeutic hope. If tics are suspected and social or functional impairment is significant, specialist advice should be sought, in accordance with the patient's age (psychiatrist/child psychiatrist; neurologist/pediatric neurologist). They will determine tic severity and the presence or absence of comorbidities. The GP will take over the management and prescription of treatment: encouraging treatment compliance, assessing side effects, and combating stigmatization among family and friends. They will also play an important role in rehabilitation therapies, as well as in ensuring that accommodations are made in the patient's schooling or professional environment.

摘要

术语“ Gilles de la Tourette 综合征”,或更常用的术语“ Tourette 综合征”(TS)是指运动性和发音性抽搐的关联,这些抽搐在可变但频繁的精神共病背景下演变。该综合征的特征是多种运动性抽搐和至少一种发音性抽搐的联合,这些抽搐没有可识别的原因,存在至少一年,并且在 18 岁之前出现。出现秽语症并不是确定或排除诊断的必要条件,因为只有 10%的病例存在。TS 的诊断纯粹是临床诊断,基于《精神障碍诊断与统计手册》(DSM-5)定义的症状。不需要额外的测试来确认 TS 的诊断。但是,为了排除某些鉴别诊断,可能需要进一步的测试。非常常见的是,还存在一种或多种精神共病,包括注意缺陷多动障碍、强迫症、焦虑症、爆发性发作、自残行为、学习障碍或自闭症谱系障碍。这种情况在儿童时期大约 6 或 7 岁开始,并逐渐进展,抽搐有相对的缓解和加重期。大多数患者在生命的第二个十年结束时会有所改善,但大约三分之一的患者的症状可能会持续到成年期。TS 的病因尚不清楚,但遗传易感性和某些环境因素似乎发挥了作用。TS 和严重抽搐的治疗通常具有挑战性,需要多学科方法(包括全科医生(GP)、儿科医生、精神科医生、神经科医生、学校或职业医生、心理学家和社会工作者)。在轻度病例中,通常建议进行教育(对年轻患者、父母和兄弟姐妹进行教育)和心理管理。在疾病的中度至重度形式(即与抽搐相关的功能和/或心理社会不适)中,医疗治疗(包括抗精神病药)是必不可少的。在过去十年中,认知行为疗法已被验证可用于治疗抽搐。对于某些孤立性抽搐,肉毒杆菌毒素注射也可能有用。存在精神共病时,通常需要进行特定治疗。对于非常严重的 TS 形式,深部脑刺激治疗提供了真正的治疗希望。如果怀疑有抽搐且社会或功能受损严重,应根据患者的年龄(精神科医生/儿童精神科医生;神经科医生/儿科神经科医生)寻求专家建议。他们将确定抽搐的严重程度以及是否存在共病。全科医生将负责管理和开处治疗药物:鼓励治疗依从性,评估副作用,并消除家庭和朋友之间的污名化。他们还将在康复治疗以及确保在患者的学业或职业环境中进行适应方面发挥重要作用。

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引用本文的文献

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Global bibliometric analysis of Tourette syndrome research (1960-2024): trends, collaborations and emerging themes.抽动秽语综合征研究的全球文献计量分析(1960 - 2024):趋势、合作与新兴主题
Front Neurol. 2025 Jun 6;16:1564511. doi: 10.3389/fneur.2025.1564511. eCollection 2025.