Frontiers in Neurology (Mar 2022)
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
- Anna G. Mayhew,
- Meredith K. James,
- Ursula Moore,
- Helen Sutherland,
- Marni Jacobs,
- Marni Jacobs,
- Jia Feng,
- Linda Pax Lowes,
- Lindsay N. Alfano,
- Robert Muni Lofra,
- Laura E. Rufibach,
- Kristy Rose,
- Tina Duong,
- Tina Duong,
- Luca Bello,
- Irene Pedrosa-Hernández,
- Scott Holsten,
- Chikako Sakamoto,
- Aurélie Canal,
- Nieves Sánchez-Aguilera Práxedes,
- Simone Thiele,
- Catherine Siener,
- Bruno Vandevelde,
- Brittney DeWolf,
- Elke Maron,
- Heather Gordish-Dressman,
- Heather Gordish-Dressman,
- Heather Hilsden,
- Michela Guglieri,
- Jean-Yves Hogrel,
- Andrew M. Blamire,
- Pierre G. Carlier,
- Simone Spuler,
- John W. Day,
- Kristi J. Jones,
- Diana X. Bharucha-Goebel,
- Diana X. Bharucha-Goebel,
- Emmanuelle Salort-Campana,
- Alan Pestronk,
- Maggie C. Walter,
- Carmen Paradas,
- Tanya Stojkovic,
- Madoka Mori-Yoshimura,
- Elena Bravver,
- Jordi Díaz-Manera,
- Jordi Díaz-Manera,
- Elena Pegoraro,
- Jerry R. Mendell,
- Volker Straub
Affiliations
- 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
- Marni Jacobs
- Pediatrics, Epidemiology and Biostatistics, George Washington University, 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
- Tina Duong
- Lucile Salter Packard Children's Hospital at Stanford, Neurology, Palo Alto, CA, United States
- Luca Bello
- Department of Neuroscience, University of Padova, Padua, Italy
- Irene Pedrosa-Hernández
- 0Physical Medicine and Rehabilitation, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
- Scott Holsten
- 1Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States
- Chikako Sakamoto
- 2Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Tokyo, Japan
- Aurélie Canal
- 3Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France
- Nieves Sánchez-Aguilera Práxedes
- 4Neurorehabilitation Unit, Rehabilitation Hospital Universitario Virgen del Rocío Sevilla, Seville, Spain
- Simone Thiele
- 5Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany
- Catherine Siener
- 6Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States
- Bruno Vandevelde
- 7Service 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
- 8ELAN-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 Gordish-Dressman
- Pediatrics, Epidemiology and Biostatistics, George Washington University, 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
- 3Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France
- Andrew M. Blamire
- 9Magnetic Resonance Centre, Institute for Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
- Pierre G. Carlier
- 0AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France
- Simone Spuler
- 1Charite 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
- 2Department 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
- Diana X. Bharucha-Goebel
- 3Department of Neurology Children's National Health System, Washington, DC, United States
- Diana X. Bharucha-Goebel
- 4National Institutes of Health (NINDS), Bethesda, MD, United States
- Emmanuelle Salort-Campana
- 7Service des Maladies Neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France
- Alan Pestronk
- 6Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States
- Maggie C. Walter
- 5Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany
- Carmen Paradas
- 5Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain
- Tanya Stojkovic
- 3Institut de Myologie, AP-HP, GH Pitié-Salpêtrière, Paris, France
- Madoka Mori-Yoshimura
- 6Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Tokyo, Japan
- Elena Bravver
- 1Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States
- Jordi Díaz-Manera
- 7Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain
- Jordi Díaz-Manera
- 8Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
- Elena Pegoraro
- Department of Neuroscience, University of Padova, Padua, Italy
- Jerry R. Mendell
- The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States
- Volker Straub
- 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
- DOI
- https://doi.org/10.3389/fneur.2022.828525
- Journal volume & issue
-
Vol. 13
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 R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 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.
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