The positive outcome of different therapeutic approaches for spinal muscular atrophy (SMA) in clinical trials and in clinical practice have highlighted the need to establish if functional changes are associated with possible changes of patient health-related quality of life or have an effect on activities of daily living and caregiver burden. The aim of this paper is to provide a critical review of the tools previously or currently used to measure quality of life, activity of daily living, and caregiver burden in SMA. We identified 36 measures. Only 6 tools were specifically developed for SMA while the others had been used and at least partially validated in wider groups of neuromuscular disorders including SMA. Twelve of the 36 focused on health-related quality of life, 5 on activities of daily living and 9 on caregiver burden. Ten included a combination of items. The review provides a roadmap of the different tools indicating their suitability for different SMA types or age groups. Scales assessing activities of daily living and care burden can provide patients and carers perspective on functional changes over time that should be added to the observer rated scales used in clinic.

中文翻译：

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对以患者和父母照顾者为导向的工具的批判性审查，以评估脊髓性肌萎缩症中与健康相关的生活质量、日常生活活动和照顾者负担

在临床试验和临床实践中，脊髓性肌萎缩症 (SMA) 的不同治疗方法的积极结果强调需要确定功能变化是否与患者健康相关的生活质量的可能变化有关，或对患者的活动有影响。日常生活和照顾者的负担。本文的目的是对以前或目前用于衡量 SMA 的生活质量、日常生活活动和照顾者负担的工具进行批判性回顾。我们确定了 36 项措施。只有 6 种工具是专门为 SMA 开发的，而其他工具已在包括 SMA 在内的更广泛的神经肌肉疾病组中使用并至少部分验证。36 人中有 12 人关注与健康相关的生活质量，5 人关注日常生活活动，9 人关注照顾者负担。十个包括项目的组合。审查提供了不同工具的路线图，表明它们适用于不同的 SMA 类型或年龄组。评估日常生活活动和护理负担的量表可以为患者和护理人员提供有关随时间推移的功能变化的观点，应将其添加到临床使用的观察者评级量表中。