Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

Area of Science:

• Neurology
• Rehabilitation Medicine
• Health Outcomes Research

Background:

• Patient-reported outcome measures (PROMs) are essential for capturing patient perspectives in healthcare and research.
• A comprehensive resource for PROMs in neuromuscular diseases (NMD) is lacking, impeding optimal selection and utilization.
• Existing PROMs in NMD may not fully reflect the patient's voice or adequately capture all relevant health domains.

Purpose of the Study:

• To conduct a scoping review of existing literature on PROMs used in pediatric and adult NMD populations.
• To identify and assess the measurement properties of available PROMs for NMD.
• To highlight gaps in the current literature regarding PROM development and evaluation in NMD.

Main Methods:

• A scoping review methodology was employed, adhering to PRISMA-ScR and COSMIN guidelines.
• Literature search encompassed studies describing the psychometric development or evaluation of PROMs in NMD.
• Data extraction focused on measurement properties including validity, reliability, responsiveness, and interpretability.

Main Results:

• 190 PROMs were identified across 247 studies in individuals with NMD.
• The majority of identified PROMs were disease-specific, with physical functioning being the most frequently assessed domain.
• Validity was the most commonly evaluated property, yet few PROMs demonstrated sufficient psychometric evaluation across multiple characteristics.

Conclusions:

• While numerous PROMs exist for NMD, a significant need remains for robust evaluation of their responsiveness and interpretability.
• Further development of PROMs focusing on social functioning in NMD is warranted.
• Enhanced psychometric validation is crucial for selecting appropriate PROMs to accurately represent patient experiences in NMD research and care.