Kathleen Farrell1, Leora E Comis1, Morgan M Casimir1, Bonnie Hodsdon1, Rafael Jiménez-Silva1, Tiara Dunigan1, Timothy Bhattacharyya2, Smita Jha2,3. 1. Rehabilitation Medicine Department, Clinical Center, National Institutes of Health, Bethesda, MD, USA. 2. Clinical and Investigative Orthopedics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA. 3. Section on Congenital Disorders, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Abstract
INTRODUCTION: Melorheostosis is a rare bone disorder with limited literature that describes the effect of this disease on functional and motor abilities. As part of a natural history study, four outcome measures were administered to better understand the burden this disease has on a person's ability to engage in basic and instrumental activities of daily living. OBJECTIVE: To investigate the relationship between functional engagement, fatigue, and motor ability in patients with melorheostosis. DESIGN: Cross-sectional data gathered from a longitudinal natural history observational study. SETTING: Rehabilitation department within a single institution. PARTICIPANTS: Forty-seven adult volunteers with melorheostosis were enrolled. Two participants were removed for failure to meet diagnosis eligibility. Thirty patients had lower extremity (LE) osteosclerotic bone lesions, 14 had upper extremity (UE) lesions, and one had lesions in both UEs and LEs. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Activity Card Sort, Second Edition (ACS); Multi-Dimensional Fatigue Inventory; Lower Extremity Functional Scale; Upper Extremity Functional Index. RESULTS: On the ACS, high-demand leisure (HDL) activities were the least retained (p < .001). Of the activities rated most important, HDL activities were the most likely to have been given up (27%). General fatigue (μ = 11.8) and physical fatigue (μ = 11.0) were the two most limiting fatigue constructs. There were moderate negative correlations with HDL activities compared to physical fatigue (r = -0.524, p < .001) and reduced activity fatigue (r = -0.58, p = .001). LE lesions had a large effect on completing LE tasks (d = 0.95) and UE lesions had a medium effect on completing tasks involving the UE (d = 0.69). CONCLUSIONS: Patients with melorheostosis experience fatigue and low engagement in HDL activities. The results of this study underscore the importance of acknowledging activity domain, fatigue constructs, and lesion location to support and provide targeted evidence-based rehabilitative therapy. CLINICAL TRIAL REGISTRATION NUMBER: NCT02504879. Published 2022. This article is a U.S. Government work and is in the public domain in the USA.
INTRODUCTION: Melorheostosis is a rare bone disorder with limited literature that describes the effect of this disease on functional and motor abilities. As part of a natural history study, four outcome measures were administered to better understand the burden this disease has on a person's ability to engage in basic and instrumental activities of daily living. OBJECTIVE: To investigate the relationship between functional engagement, fatigue, and motor ability in patients with melorheostosis. DESIGN: Cross-sectional data gathered from a longitudinal natural history observational study. SETTING: Rehabilitation department within a single institution. PARTICIPANTS: Forty-seven adult volunteers with melorheostosis were enrolled. Two participants were removed for failure to meet diagnosis eligibility. Thirty patients had lower extremity (LE) osteosclerotic bone lesions, 14 had upper extremity (UE) lesions, and one had lesions in both UEs and LEs. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Activity Card Sort, Second Edition (ACS); Multi-Dimensional Fatigue Inventory; Lower Extremity Functional Scale; Upper Extremity Functional Index. RESULTS: On the ACS, high-demand leisure (HDL) activities were the least retained (p < .001). Of the activities rated most important, HDL activities were the most likely to have been given up (27%). General fatigue (μ = 11.8) and physical fatigue (μ = 11.0) were the two most limiting fatigue constructs. There were moderate negative correlations with HDL activities compared to physical fatigue (r = -0.524, p < .001) and reduced activity fatigue (r = -0.58, p = .001). LE lesions had a large effect on completing LE tasks (d = 0.95) and UE lesions had a medium effect on completing tasks involving the UE (d = 0.69). CONCLUSIONS: Patients with melorheostosis experience fatigue and low engagement in HDL activities. The results of this study underscore the importance of acknowledging activity domain, fatigue constructs, and lesion location to support and provide targeted evidence-based rehabilitative therapy. CLINICAL TRIAL REGISTRATION NUMBER: NCT02504879. Published 2022. This article is a U.S. Government work and is in the public domain in the USA.
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