Occupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis

• Published in: PM & R Vol. 15; no. 5; pp. 587 - 595
• Main Authors: Farrell, Kathleen, Comis, Leora E., Casimir, Morgan M., Hodsdon, Bonnie, Jiménez‐Silva, Rafael, Dunigan, Tiara, Bhattacharyya, Timothy, Jha, Smita
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.05.2023
• Subjects: Activities of Daily Living; Adult; Cross-Sectional Studies; Fatigue - etiology; Fatigue - physiopathology; Humans; Lower Extremity; Melorheostosis - complications; Melorheostosis - physiopathology; Upper Extremity
• ISSN: 1934-1482; 1934-1563; 1934-1563
• DOI: 10.1002/pmrj.12817

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.