Groth Camilla, Debes Nanette Mol, Skov Liselotte
1 Department of Paediatrics, Copenhagen University Hospital, Herlev, Denmark.
J Child Neurol. 2017 Nov;32(13):1047-1057. doi: 10.1177/0883073817729917.
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated to the impairment score. Knowledge of TS phenotype development is used in clinical settings to guide patients and for genetic, etiological, and clinical research purposes.
抽动秽语综合征(TS)是一种神经发育障碍,其特征是频繁合并其他病症且有广泛的表型表现。本研究旨在通过一项对226名儿童和青少年进行6年随访的大型纵向研究,描述TS的表型发展以及与抽动相关的损害情况。对参与者进行临床检查,以评估抽动严重程度和损害、强迫症(OCD)以及注意力缺陷多动障碍(ADHD)。表型发展朝着合并症减少的方向变化,基线时40%为仅患TS(无OCD或ADHD)(无OCD或ADHD的TS),随访时为55%。与抽动相关的损害预计会随着年龄相关的抽动减少而改善,但令人惊讶的是,损害评分并未反映出抽动的减少。性别、发声和运动抽动以及OCD和ADHD严重程度与损害评分高度显著相关。TS表型发展的知识在临床环境中用于指导患者以及进行遗传、病因和临床研究。