Facioscapulohumeral muscular dystrophy functional composite outcome measure |
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| Authors: | Katy Eichinger PT PhD Chad Heatwole MD MS‐CI Stanley Iyadurai MD Wendy King PT Lindsay Baker PT DPT Susanne Heininger RN Amy Bartlett Nuran Dilek MS William B Martens BA Michael Mcdermott PhD John T Kissel MD Rabi Tawil MD Jeffrey M Statland MD |
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| Institution: | 1. Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 673 Rochester, New York, USA;2. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA;3. Department of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, New York, USA;4. Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA |
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| Abstract: | Introduction: We developed an evaluator‐administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD‐COM) comprising patient‐identified areas of functional burden for future clinical trials. Methods: We performed a prospective observational study of 41 patients with FSHD at 2 sites. The FSHD‐COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test‐retest reliability and convergent validity compared to established FSHD disease metrics. Results: The FSHD‐COM demonstrated excellent test‐retest reliability (intraclass correlation coefficient ICC] 0.96; subscale ICC range, 0.90–0.94). Cross‐sectional associations between the FSHD‐COM and disease duration, clinical severity, and strength were moderate to strong (Pearson correlation coefficient range |0.51–0.92|). Discussion: The FSHD‐COM is a disease‐relevant, functional composite outcome measure suitable for future FSHD clinical trials that shows excellent test‐retest reliability and cross‐sectional associations to disease measures. Future directions include determining multisite reliability, sensitivity to change, and the minimal clinically important change in the FSHD‐COM. Muscle Nerve 58 : 72–78, 2018 |
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| Keywords: | composite measures facioscapulohumeral muscular dystrophy functional testing muscular dystrophy outcome measures |
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