Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary and Hotchkiss Brain Institute, Calgary, AB, Canada.
Tic and Neurodevelopmental Movements Service (TANDeM), Children's Neurosciences Centre, Evelina London Children's Hospital, Guys and St Thomas' NHS Foundation Trust, London, UK.
Parkinsonism Relat Disord. 2019 Feb;59:117-124. doi: 10.1016/j.parkreldis.2019.02.005. Epub 2019 Feb 4.
Tics and stereotypies are the most common pathological repetitive complex motor behaviors occurring during the neurodevelopmental period. Although they may appear transiently during development without acquiring a pathological status, when they become chronic they may be distressing, socially impairing, or even, in the case of malignant tics, potentially physically harmful. Despite a certain similarity in their phenomenology, physicians should be able to distinguish them for their different variability over time, topographical distribution, association with sensory manifestations, and relationship with environmental triggers. The complex phenomenology of tics and stereotypies is constantly enriched by the characterization of novel variants, e.g. tics triggered by auditory stimuli in association with misophonia and stereotypies associated with intense imagery activity. Their pathophysiology remains partially elusive, but both animal model and brain imaging studies confirm the involvement of all the three major loops (sensorimotor, associative and limbic) within the cortico-basal ganglia circuitry. From a management perspective, the greatest advances witnessed in the last decade involve the diffusion of behavioral strategies (e.g. habit reversal training or response interruption and redirection), including the development of protocols for telehealth on online training in order to optimise access. In the context of severe tics, e.g. in refractory Tourette syndrome, there is increasing experience with deep brain stimulation of the intralaminar thalamic nuclei or the globus pallidus internus, although more research is needed to fine tune target choice and stimulation setting definition.
抽动和刻板行为是神经发育过程中最常见的病理性重复复杂运动行为。虽然它们在发育过程中可能短暂出现而不具有病理性，但当它们变为慢性时，可能会令人痛苦、社交受损，甚至在恶性抽动的情况下，可能会对身体造成潜在伤害。尽管它们在表现上有一定的相似性，但医生应该能够根据它们随时间的不同可变性、地域分布、与感觉表现的关联以及与环境触发因素的关系来区分它们。抽动和刻板行为的复杂表现形式不断通过对新型变体的描述而得到丰富，例如与厌恶症相关的听觉刺激触发的抽动和与强烈意象活动相关的刻板行为。它们的病理生理学仍然部分难以捉摸，但动物模型和脑成像研究都证实了皮质基底神经节回路中三个主要环路（感觉运动、联想和边缘）的参与。从管理的角度来看，过去十年中最大的进展涉及行为策略的普及（例如习惯反转训练或反应中断和重定向），包括开发远程医疗协议以在线进行培训，以优化访问。在严重抽动的情况下，例如在难治性妥瑞氏综合征中，越来越多的人开始尝试对丘脑内板核或苍白球 internus 进行深部脑刺激，尽管需要更多的研究来微调目标选择和刺激设置定义。
