By Natalie Reash, DPT


Mayhew AG, James MK, Moore U, et al. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Front Neurol. 2022;13:828525. Published 2022 Mar 10. doi:10.3389/fneur.2022.828525

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


The Jain Clinical Outcome Study (COS), an international multicenter study, was designed to define the natural history of dysferlinopathy (LGMDR2) and establish clinical trial readiness. COS includes a battery of functional assessments as well Patient Reported Outcome Measures (PROMs) measured longitudinally. Experts and regulatory authorities agree that PROMs are important for evaluating disease progression and clinical meaningfulness of potential therapeutic interventions, however, limited research has been done to examine which PROMs are appropriate for this patient cohort.

Mayhew et al. aim to evaluate the suitability and change of selected PROMs over 4 years and examine the association between the PROMs and measures of motor performance including the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and the Performance of Upper Limb (PUL).

Two-hundred and four patients with dysferlinopathy 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). Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. The ACTIVLIM performed particularly well 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).

The authors were able to use these results to better understand how the selected PROMs performed in this dysferlinopathy cohort and replaced the INQoL with a different quality of life measure in the current study in hopes of better suitability. Future research will investigate if change in function over time is reflected in the related PROM.

About the author

Anna Mayhew, PhD: Dr. Anna Mayhew is a Consultant Research Physiotherapist at The John Walton Muscular Dystrophy Research Centre at Newcastle, Newcastle University, UK. She has a special interest in development of robust and clinically relevant functional outcome measures for all types of neuromuscular disorders as well as suitable patient reported outcome measures.

Anna has published several articles on the development of outcome measures for use in various neuromuscular disorders using modern psychometrics. She is involved in training clinical evaluators and in the ongoing development of clinically relevant measures for use in neuromuscular trials.

About the reviewer

Natalie Reash, DPT: Natalie obtained her Doctorate of physical therapy degree from The Ohio State University in 2015 and serves as a research physical therapist in the Center for Gene Therapy at Nationwide Children’s Hospital.

Her research focuses on clinical trial readiness through appropriate outcome selection, development and validation of novel tools to reduce the burden of testing, as well as standardizing outcome administration and scoring across sites and countries participating in clinical trials.


This article is presented by the

Publication Highlights Committee.

Published on 6 December 2022.


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