Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.

Autor:	Mayhew AG; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., James MK; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Sutherland H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Jacobs M; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.; Pediatrics, Epidemiology and Biostatistics, George Washington University, Washington, DC, United States., Feng J; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States., Lowes LP; The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States., Alfano LN; The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States., Muni Lofra R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Rufibach LE; The Jain Foundation, Seattle, WA, United States., Rose K; The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Duong T; Cooperative International Neuromuscular Research Group (CINRG), Children's National Health System, Washington, DC, United States.; Lucile Salter Packard Children's Hospital at Stanford, Neurology, Palo Alto, CA, United States., Bello L; Department of Neuroscience, University of Padova, Padua, Italy., Pedrosa-Hernández I; Physical Medicine and Rehabilitation, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Holsten S; Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States., Sakamoto C; Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Tokyo, Japan., Canal A; Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France., Sánchez-Aguilera Práxedes N; Neurorehabilitation Unit, Rehabilitation Hospital Universitario Virgen del Rocío Sevilla, Seville, Spain., Thiele S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany., Siener C; Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States., Vandevelde B; Service des Maladies Neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France., DeWolf B; Cooperative International Neuromuscular Research Group (CINRG), Children's National Health System, Washington, DC, United States., Maron E; ELAN-PHYSIO, Praxis für Physiotherapie Maron, Berlin, Germany., Gordish-Dressman H; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.; Pediatrics, Epidemiology and Biostatistics, George Washington University, Washington, DC, United States., Hilsden H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Guglieri M; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Hogrel JY; Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France., Blamire AM; Magnetic Resonance Centre, Institute for Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Carlier PG; AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France., Spuler S; Charite Muscle Research Unit, Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany., Day JW; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, United States., Jones KJ; The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Bharucha-Goebel DX; Department of Neurology Children's National Health System, Washington, DC, United States.; National Institutes of Health (NINDS), Bethesda, MD, United States., Salort-Campana E; Service des Maladies Neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France., Pestronk A; Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States., Walter MC; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany., Paradas C; Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain., Stojkovic T; Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France., Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Tokyo, Japan., Bravver E; Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States., Díaz-Manera J; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain.; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Pegoraro E; Department of Neuroscience, University of Padova, Padua, Italy., Mendell JR; The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States., Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Jazyk:	angličtina
Zdroj:	Frontiers in neurology [Front Neurol] 2022 Mar 10; Vol. 13, pp. 828525. Date of Electronic Publication: 2022 Mar 10 (Print Publication: 2022).
DOI:	10.3389/fneur.2022.828525
Abstrakt:	Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R 2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R 2 0.18). EK scores were strongly associated with PUL (Pseudo R 2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R 2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy. Competing Interests: MJ receives fee support for PhD studies from the Jain Foundation. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Mayhew, James, Moore, Sutherland, Jacobs, Feng, Lowes, Alfano, Muni Lofra, Rufibach, Rose, Duong, Bello, Pedrosa-Hernández, Holsten, Sakamoto, Canal, Sánchez-Aguilera Práxedes, Thiele, Siener, Vandevelde, DeWolf, Maron, Gordish-Dressman, Hilsden, Guglieri, Hogrel, Blamire, Carlier, Spuler, Day, Jones, Bharucha-Goebel, Salort-Campana, Pestronk, Walter, Paradas, Stojkovic, Mori-Yoshimura, Bravver, Díaz-Manera, Pegoraro, Mendell and Straub.)
Databáze:	MEDLINE
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