Alves Inês, Westerheim Ingunn, Hsiao Edward C, Upadhyay Jaymin, Sangiorgi Luca, Artyomenko Alexander, Croskery Kim, Johns Juliet, Warnants Emma, Barton Gabor
School of Health and Human Development, Comprehensive Health Research Centre, University of Évora, Largo dos Colegiais 2, Évora 7004-516, Portugal.
National Association of Skeletal Dysplasia (ANDO Portugal), Évora, Portugal.
Ther Adv Musculoskelet Dis. 2025 Aug 21;17:1759720X251369963. doi: 10.1177/1759720X251369963. eCollection 2025.
Although rare bone diseases (RBDs) present mobility challenges, there is little consolidated evidence on evaluated mobility measurement tools or how mobility impairments impact daily activities and quality of life (QoL).
This systematic literature review investigated: (1) the impacts of mobility impairment on daily activities/QoL; (2) the suitability/comprehensiveness of tools measuring mobility.
MEDLINE/Embase databases (January 19, 2022) and Google (October 19, 2022) were searched for articles published between 2011 and 2022; conference proceedings from 2020 to 2021 were hand-searched. Included articles reported on how mobility impairments impact daily activities/QoL, or the use of tools for measuring mobility, in RBDs. A narrative analysis using descriptive statistics was conducted. Studies were assessed for risk of bias using The Alberta Heritage Foundation for Medical Research Quality Assessment Criteria and National Institute of Health Quality Assessment Tool for Case Series Studies.
Inclusion criteria were met by 113 articles, investigating 39 RBDs (sample sizes: = 1-959). Mobility impairments, commonly joint function/gait disturbances, negatively impacted daily activities ( = 47 cohorts; frequently walking (27/47; 57.4%)) and QoL ( = 36 cohorts; commonly pain (30/36; 83.3%; Objective 1). There were 34 functional assessments, 22 questionnaires, and 5 technologies described. Only nine functional assessments/questionnaires were reported to have good validity/reliability/responsiveness for an RBD (not reported for technologies); none comprehensively captured daily living/QoL impacts of mobility impairment. The quality of studies was moderate, though many were case studies/series, which are at inherent risk of bias.
Few tools comprehensively captured mobility impairments and associated impacts on daily activities/QoL. Consistent reporting of tools' validity/reliability/responsiveness would support clinicians in selecting methods for use across RBD populations. Used remotely, wearables could support understanding of real-world mobility challenges. Since searches were conducted, additional technologies (e.g., remote gait analysis) have been tested in RBDs, although validation is required.
CRD42022311513. Sponsored by Ipsen.
尽管罕见骨病（RBDs）带来了行动方面的挑战，但关于经过评估的行动测量工具，或者行动障碍如何影响日常活动和生活质量（QoL），几乎没有综合证据。
本系统文献综述调查了：（1）行动障碍对日常活动/生活质量的影响；（2）测量行动的工具的适用性/全面性。
检索了MEDLINE/Embase数据库（2022年1月19日）和谷歌（2022年10月19日）中2011年至2022年发表的文章；人工检索了2020年至2021年的会议论文集。纳入的文章报告了行动障碍如何影响罕见骨病患者的日常活动/生活质量，或测量行动的工具的使用情况。进行了使用描述性统计的叙述性分析。使用艾伯塔医学研究遗产基金会质量评估标准和美国国立卫生研究院病例系列研究质量评估工具对研究进行偏倚风险评估。
113篇文章符合纳入标准，研究了39种罕见骨病（样本量：1 - 959）。行动障碍，常见的有关节功能/步态障碍，对日常活动（47个队列；经常步行（27/47；57.4%））和生活质量（36个队列；常见疼痛（30/36；83.3%；目标1）产生了负面影响。描述了34种功能评估、22种问卷和5种技术。据报告，只有9种功能评估/问卷对罕见骨病具有良好的效度/信度/反应性（技术方面未报告）；没有一种能全面反映行动障碍对日常生活/生活质量的影响。研究质量中等，不过许多是病例研究/系列研究，存在固有的偏倚风险。
很少有工具能全面反映行动障碍及其对日常活动/生活质量的相关影响。工具的效度/信度/反应性的一致报告将有助于临床医生选择适用于罕见骨病患者群体的方法。可穿戴设备若远程使用，有助于了解现实世界中的行动挑战。自检索以来，已有其他技术（如远程步态分析）在罕见骨病中进行了测试，不过仍需验证。
方案PROSPERO注册：CRD42022311513。由益普生赞助。
