SYSTEMATIC REVIEW   Open access

European Journal of Physical and Rehabilitation Medicine 2024 April;60(2):257-69

DOI: 10.23736/S1973-9087.24.08095-X

Copyright © 2024 THE AUTHORS

This is an open access article distributed under the terms of the CC BY-NC-ND 4.0 license which allows users to copy and distribute the manuscript, as long as this is not done for commercial purposes and further does not permit distribution of the manuscript if it is changed or edited in any way, and as long as the user gives appropriate credits to the original author(s) and the source (with a link to the formal publication through the relevant DOI) and provides a link to the license.

language: English

Walking test outcomes in adults with genetic neuromuscular diseases: a systematic literature review of their measurement properties

Nawale HADOUIRI ^{1, 2, 3} ✉, Isabelle FOURNEL ^{4, 5}, Christel THAUVIN-ROBINET ^{2, 6, 7}, Agnès JACQUIN-PIQUES ⁸, Paul ORNETTI ^{9, 10}, Mathieu GUEUGNON ^{3, 10}

¹ Department of Physical Medicine and Rehabilitation, Dijon-Bourgogne University Hospital, Dijon, France; ² UMR-Inserm 1231, Génétique des Anomalies du Développement (GAD), Bourgogne Franche-Comté University, Dijon, France; ³ INSERM, CIC 1432, Clinical Investigation Center, Plurithematic Module, Technological Investigation Platform, Dijon-Bourgogne University Hospital, Dijon, France; ⁴ Clinical Investigation Center, CHU Dijon, Dijon, France; ⁵ INSERM, CIC 1432, Module Epidémiologie Clinique, Dijon, France; ⁶ Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU Dijon Bourgogne, Dijon, France; ⁷ Centre de Référence Maladies Rares "Maladies neurogénétiques", CHU Dijon Bourgogne, Dijon, France; ⁸ Centre de Compétences Maladies Rares "Maladies neuromusculaires", Department of Neurology, Dijon University Hospital, Dijon, France; ⁹ Department of Rheumatology, Dijon-Bourgogne University Hospital, Dijon, France; ¹⁰ INSERM, UMR1093-CAPS, Bourgogne Franche-Comté University, Dijon, France

INTRODUCTION: Neuromuscular diseases (NMDs) include a large group of heterogeneous diseases. NMDs frequently involve gait disorders, which affect quality of life. Several walking tests and tools have been described in the literature, but there is no consensus regarding the use of walking tests and tools in NMDs or of their measurement properties for walking outcomes. The aim of this review is to present an overview of walking tests, including their measurement properties when used in adults with inherited or genetic NMDs. The aim is to help clinicians and researchers choose the most appropriate test for their objective.
EVIDENCE ACQUISITION: A systematic review was conducted after consulting MEDLINE (via PubMed), EMBASE, Science direct, Google Scholar and Cochrane Central Register of Controlled Trials databases for published studies in which walking outcome measurement properties were assessed. The validity, reliability, measurement error and responsiveness properties were evaluated in terms of statistical methods and methodological design qualities using the COnsensus-based Standards for the selection of health Measurement Instruments (COSMIN) guidelines.
EVIDENCE SYNTHESIS: We included 46 studies in NMDs. These studies included 15 different walking tests and a wide variety of walking outcomes, assessed with six types of walking tools. Overall, the 6MWT was the most studied test in terms of measurement properties. The methodological design and statistical methods of most studies evaluating construct validity, reliability and measurement error were “very good.” The majority of outcome measurements were valid and reliable. However, studies on responsiveness as minimal important difference or minimal important change were lacking or were found to have inadequate methodological and statistical methods according to the COSMIN guidelines.
CONCLUSIONS: Most walking outcomes were found to be valid and reliable in NMDs. However, in view of the growing number of clinical trials, further studies are needed to clarify additional measurement properties.

KEY WORDS: Neuromuscular diseases; Walking; Charcot-Marie-Tooth disease