Background: 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).
Objectives and design: This systematic literature review investigated: (1) the impacts of mobility impairment on daily activities/QoL; (2) the suitability/comprehensiveness of tools measuring mobility.
Data sources and methods: 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.
Results: Inclusion criteria were met by 113 articles, investigating 39 RBDs (sample sizes: N = 1-959). Mobility impairments, commonly joint function/gait disturbances, negatively impacted daily activities (n = 47 cohorts; frequently walking (27/47; 57.4%)) and QoL (n = 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.
Conclusion: 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.
Protocol prospero registration: CRD42022311513. Sponsored by Ipsen.
Keywords: burden of disease; functioning; mobility impairment; quality of life; rare bone; skeletal dysplasia.
A review of movement challenges that impact the lives of people with rare bone diseases and an evaluation of how mobility can be measured across rare bone diseases Rare bone diseases are a group of conditions that affect bones, cartilage, and/or muscles. People with a rare bone disease often have difficulty moving, which may stop them being able to do their usual daily activities (e.g. household chores). As a result, people may have lower quality of life. Yet there is not much research on the impact of movement difficulties across rare bone diseases. Doctors often use questionnaires or clinical assessments to measure movement. Wearable technologies worn at home might help Doctors test movement remotely and reveal day-to-day impacts on daily activities and quality of life. It is important to test and validate these technologies for people with rare bone diseases that will use them. We conducted a literature review to explore how movement difficulties affect the lives of people with rare bone diseases. The second aim was to see how different methods can measure movement across these diseases. We included literature published between 2011–2022 that provided relevant information. The literature showed that difficulty moving negatively impacts people’s lives. Many experience pain and challenges with walking/personal care. There were 22 questionnaires, 34 clinical assessments, and 5 technologies used to measure movement. Some methods were not well-suited for use in particular rare bone diseases. For example, some measurements did not correspond with impacts that individuals described. Only 9 questionnaires/clinical assessments were validated. No technologies had been validated or used outside of the clinic. Researchers could do further tests to see if these tools are suitable for measuring movement in people with rare bone diseases or they could re-use existing remote technologies. These technologies would need to be validated first. The information from remote technologies used at home could help Doctors decide how best to care for people with rare bone diseases.
© The Author(s), 2025.