TY - JOUR
T1 - Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy
T2 - A Rasch Analysis Approach
AU - Mayhew, Anna G.
AU - James, Meredith K.
AU - Moore, Ursula
AU - Sutherland, Helen
AU - Jacobs, Marni
AU - Feng, Jia
AU - Lowes, Linda Pax
AU - Alfano, Lindsay N.
AU - Muni Lofra, Robert
AU - Rufibach, Laura E.
AU - Rose, Kristy
AU - Duong, Tina
AU - Bello, Luca
AU - Pedrosa-Hernández, Irene
AU - Holsten, Scott
AU - Sakamoto, Chikako
AU - Canal, Aurélie
AU - Sánchez-Aguilera Práxedes, Nieves
AU - Thiele, Simone
AU - Siener, Catherine
AU - Vandevelde, Bruno
AU - DeWolf, Brittney
AU - Maron, Elke
AU - Gordish-Dressman, Heather
AU - Hilsden, Heather
AU - Guglieri, Michela
AU - Hogrel, Jean Yves
AU - Blamire, Andrew M.
AU - Carlier, Pierre G.
AU - Spuler, Simone
AU - Day, John W.
AU - Jones, Kristi J.
AU - Bharucha-Goebel, Diana X.
AU - Salort-Campana, Emmanuelle
AU - Pestronk, Alan
AU - Walter, Maggie C.
AU - Paradas, Carmen
AU - Stojkovic, Tanya
AU - Mori-Yoshimura, Madoka
AU - Bravver, Elena
AU - Díaz-Manera, Jordi
AU - Pegoraro, Elena
AU - Mendell, Jerry R.
AU - Jain COS Consortium, COS Consortium
AU - Straub, Volker
N1 - Publisher Copyright:
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.
PY - 2022/3/10
Y1 - 2022/3/10
N2 - 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.
AB - 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.
KW - PROMs
KW - clinical outcome assessments
KW - dysferlinopathy
KW - limb girdle muscular dystrophy
KW - quality of life
UR - http://www.scopus.com/inward/record.url?scp=85127415774&partnerID=8YFLogxK
U2 - 10.3389/fneur.2022.828525
DO - 10.3389/fneur.2022.828525
M3 - Article
C2 - 35359643
AN - SCOPUS:85127415774
SN - 1664-2295
VL - 13
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 828525
ER -