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Related Experiment Video

Updated: Sep 28, 2025

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch

Anna G Mayhew1, Meredith K James1, Ursula Moore1

  • 1The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

Frontiers in Neurology
|April 1, 2022
PubMed
Summary
This summary is machine-generated.

Patient-reported outcome measures (PROMs) like ACTIVLIMs and EK show promise in tracking functional decline in dysferlinopathy. However, INQoL and IPAQ may require alternative methods for assessing this muscular dystrophy.

Keywords:
PROMsclinical outcome assessmentsdysferlinopathylimb girdle muscular dystrophyquality of life

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Area of Science:

  • Neurology
  • Clinical Outcomes Research
  • Rehabilitation Medicine

Background:

  • Dysferlinopathy, a muscular dystrophy, exhibits significant variability in functional progression.
  • The relationship between patient-reported outcome measures (PROMs) and functional status in dysferlinopathy is not well-established.
  • This study investigates the suitability and association of PROMs with motor performance in dysferlinopathy patients.

Purpose of the Study:

  • To evaluate the psychometric properties and functional associations of selected PROMs in dysferlinopathy.
  • To identify reliable PROMs for monitoring disease progression and functional outcomes.
  • To inform the selection of appropriate PROMs for future clinical trials and patient management.

Main Methods:

  • Utilized data from 204 dysferlinopathy patients across 14 international sites.
  • Administered PROMs including 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).
  • Employed Rasch analysis for ACTIVLIM, EK, and INQoL, and generalized estimating equations (GEE) to assess associations with functional measures like NSAD and PUL.

Main Results:

  • The ACTIVLIMs demonstrated robust psychometric properties and a strong association with the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) (Pseudo R² 0.68).
  • The Egen Klassifikation Scale (EK) showed a strong correlation with the Performance of Upper Limb (PUL) score (Pseudo R² 0.69).
  • The INQoL and IPAQ exhibited weaker associations with functional outcome measures, suggesting limitations in their utility for this patient group.

Conclusions:

  • Certain PROMs, specifically ACTIVLIMs and EK, are suitable for assessing functional changes over time in dysferlinopathy.
  • The findings suggest a need for alternative PROMs for quality of life and physical activity assessment in dysferlinopathy.
  • Optimizing PROM selection is crucial for accurately monitoring disease progression and treatment efficacy in muscular dystrophies.