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

Anna G. Mayhew, 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.
Meredith K. James, 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.
Ursula Moore, 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.
Helen Sutherland, 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.
Marni Jacobs, Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.
Jia Feng, Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.
Linda Pax Lowes, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Lindsay N. Alfano, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Robert Muni Lofra, 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.
Laura E. Rufibach, The Jain Foundation, Seattle, WA, United States.
Kristy Rose, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.
Tina Duong, Cooperative International Neuromuscular Research Group (CINRG), Children's National Health System, Washington, DC, United States.
Luca Bello, Department of Neuroscience, University of Padova, Padua, Italy.
Irene Pedrosa-Hernández, Physical Medicine and Rehabilitation, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Scott Holsten, Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States.
Chikako Sakamoto, Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Tokyo, Japan.
Aurélie Canal, Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France.
Nieves Sánchez-Aguilera Práxedes, Neurorehabilitation Unit, Rehabilitation Hospital Universitario Virgen del Rocío Sevilla, Seville, Spain.
Simone Thiele, Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany.
Catherine Siener, Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States.
Bruno Vandevelde, Service des Maladies Neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France.
Brittney DeWolf, Cooperative International Neuromuscular Research Group (CINRG), Children's National Health System, Washington, DC, United States.
Elke Maron, ELAN-PHYSIO, Praxis für Physiotherapie Maron, Berlin, Germany.
Heather Gordish-Dressman, Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.
Heather Hilsden, 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.
Michela Guglieri, 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.
Jean-Yves Hogrel, Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France.
Andrew M. Blamire, Magnetic Resonance Centre, Institute for Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Pierre G. Carlier, AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France.
Simone Spuler, 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.
John W. Day, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, United States.
Kristi J. Jones, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.

Document Type

Journal Article

Publication Date

1-1-2022

Journal

Frontiers in neurology

Volume

13

DOI

10.3389/fneur.2022.828525

Keywords

PROMs; clinical outcome assessments; dysferlinopathy; limb girdle muscular dystrophy; quality of life

Abstract

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 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo 0.18). EK scores were strongly associated with PUL (Pseudo 0.69). IPAQ was poorly associated with NSAD scores (Pseudo 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.

Department

Pediatrics

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