A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases

Alves, I ORCID: 0000-0001-8963-4736, Westerheim, I, Hsiao, EC ORCID: 0000-0001-8924-106X, Upadhyay, J, Sangiorgi, L, Artyomenko, A, Croskery, K, Johns, J ORCID: 0009-0005-4361-2837, Warnants, E ORCID: 0000-0002-6183-4143 and Barton, G ORCID: 0000-0002-7214-1967 (2025) A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases. Therapeutic Advances in Musculoskeletal Disease, 17. ISSN 1759-720X

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Abstract

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.

Item Type:	Article
Uncontrolled Keywords:	1103 Clinical Sciences; 3202 Clinical sciences
Subjects:	R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions:	Sport and Exercise Sciences
Publisher:	SAGE Publications
Date of acceptance:	5 August 2025
Date of first compliant Open Access:	22 August 2025
Date Deposited:	22 Aug 2025 15:37
Last Modified:	22 Aug 2025 15:45
DOI or ID number:	10.1177/1759720x251369963
URI:	https://researchonline.ljmu.ac.uk/id/eprint/26984

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