Mestre Tiago A, Busse Monica, Davis Aileen M, Quinn Lori, Rodrigues Filipe B, Burgunder Jean-Marc, Carlozzi Noelle E, Walker Francis, Ho Aileen K, Sampaio Cristina, Goetz Christopher G, Cubo Esther, Martinez-Martin Pablo, Stebbins Glenn T
Parkinson's Disease and Movement Disorders Center, Division of Neurology, Department of Medicine, The Ottawa Hospital Research Institute University of Ottawa Brain and Mind Research Institute Canada.
Centre for Trials Research Cardiff University Wales UK.
Mov Disord Clin Pract. 2018 May 9;5(4):361-372. doi: 10.1002/mdc3.12617. eCollection 2018 Jul-Aug.
Limitation of functional ability is a major feature of Huntington's disease (HD). The International Parkinson and Movement Disorder Society (MDS) commissioned the appraisal of the use and clinimetric properties of clinical measures of functional ability that have been applied in HD studies and trials to date, to make recommendations regarding their use based on standardized criteria. After a systematic literature search, we included a total of 29 clinical measures grouped into two categories: (1) performance-based measures (e.g., balance, walking, and reaching/grasping), and (2) rating scales. Three performance-based measures are rated as "recommended": the Tinetti Mobility Test for screening of fall risk and for severity assessment of mobility in patients with manifest HD (up to stage III); the Berg Balance Scale for severity of balance impairment; and the Six-Minute Walk Test for assessment of walking endurance (severity) in HD subjects with preserved ambulation. No rating scale targeting functional ability reached a "recommended" status either for screening or severity measurement. The main challenges identified in this review include applying widely accepted conceptual frameworks to the identified measures, the lack of validation of clinical measures to detect change over time, and absence of validated measures for upper limb function. Furthermore, measures of capacity or ability to perform activities of daily living had ceiling effects in people with early and pre-manifest HD. We recommend that the MDS prioritize the development of new scales that capture small, but meaningful changes in function over time for outcome assessment in clinical trials, particularly in earlier stages of HD.
功能能力受限是亨廷顿舞蹈症(HD)的一个主要特征。国际帕金森和运动障碍协会(MDS)委托对迄今为止在HD研究和试验中应用的功能能力临床测量方法的使用情况和临床测量特性进行评估,以便根据标准化标准就其使用提出建议。经过系统的文献检索,我们总共纳入了29项临床测量方法,分为两类:(1)基于表现的测量方法(如平衡、行走和伸手/抓握),以及(2)评定量表。三项基于表现的测量方法被评为“推荐”:Tinetti运动测试用于筛查跌倒风险以及评估明显HD患者(直至III期)的运动严重程度;Berg平衡量表用于评估平衡障碍的严重程度;六分钟步行测试用于评估能够行走的HD受试者的步行耐力(严重程度)。没有针对功能能力的评定量表在筛查或严重程度测量方面达到“推荐”状态。本综述中确定的主要挑战包括将广泛接受的概念框架应用于已确定的测量方法、缺乏对临床测量方法随时间变化进行检测的验证,以及缺乏上肢功能的验证测量方法。此外,日常生活活动能力的测量方法在早期和症状前HD患者中存在天花板效应。我们建议MDS优先开发新的量表,以捕捉随着时间推移功能上虽小但有意义的变化,用于临床试验中的结果评估,特别是在HD的早期阶段。