Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands.
J Huntingtons Dis. 2021;10(2):269-276. doi: 10.3233/JHD-200446.
Huntington's disease (HD) is an inherited neurodegenerative disorder that is characterized by motor, cognitive, and psychiatric symptoms. Although 65%of HD expanded gene carriers report changes in employment as the first functional loss, little is known about the predictors leading to changes of working capacity. Given the impact on quality of life, understanding of these factors is of great clinical value.
This study evaluates disease specific characteristics and their predictive value in loss of working capacity in HD.
Longitudinal data was collected through the worldwide observational study (Enroll-HD), with 15,301 participants in total and 2,791 HD and healthy control participants meeting the inclusion criteria. Changes in working capacity were analyzed by means of a survival analysis. Predictive values of demographic factors and clinical characteristics were assessed for premanifest and manifest HD through Cox regressions.
HD expanded gene carriers, manifest and premanifest combined, had a 31%chance of experiencing changes in employment after three years, compared to 4%in healthy controls. Apathy was found to be the most crucial determinant of working capacity changes in premanifest HD, while executive and motor dysfunction play an important role in manifest HD.
HD expanded gene carriers are more likely to lose working capacity compared to healthy controls. Disease progression, altered motor function, cognitive decline, and in an early stage of the disease apathetic symptoms are indicative of negative changes in working capacity. Clinicians should recognize that early disease related changes, especially apathy, can affect working capacity.
亨廷顿病(HD)是一种遗传性神经退行性疾病,其特征为运动、认知和精神症状。尽管 65%的 HD 扩展基因携带者报告就业变化是第一个功能丧失,但导致工作能力变化的预测因素知之甚少。鉴于对生活质量的影响,了解这些因素具有重要的临床价值。
本研究评估了 HD 中与工作能力丧失相关的特定疾病特征及其预测价值。
通过全球观察性研究(Enroll-HD)收集了纵向数据,共有 15301 名参与者,其中 2791 名 HD 和健康对照参与者符合纳入标准。通过生存分析分析工作能力的变化。通过 Cox 回归评估人口统计学因素和临床特征对无症状和有症状 HD 的预测价值。
HD 扩展基因携带者(包括无症状和有症状)在三年内经历就业变化的几率为 31%,而健康对照组为 4%。发现冷漠是无症状 HD 工作能力变化的最重要决定因素,而执行和运动功能障碍在有症状 HD 中起着重要作用。
与健康对照组相比,HD 扩展基因携带者更有可能丧失工作能力。疾病进展、运动功能改变、认知下降以及早期疾病相关的冷漠症状表明工作能力发生了负面变化。临床医生应认识到早期与疾病相关的变化,尤其是冷漠,可能会影响工作能力。