Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children,adolescents, and young adults with Charcot‐Marie‐Tooth disease |
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| Authors: | Joshua Burns Manoj Menezes Richard S. Finkel Tim Estilow Isabella Moroni Emanuela Pagliano Matilde Laurá Francesco Muntoni David N. Herrmann Kate Eichinger Rosemary Shy Davide Pareyson Mary M. Reilly Michael E. Shy |
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| Affiliation: | 1. The University of Sydney & Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, , Sydney, Australia;2. Division of Neurology, Nemours Children's Hospital, University of Central Florida College of Medicine, , Orlando, FL, USA;3. Neuromuscular Program, The Children's Hospital of Philadelphia, , Philadelphia, PA, USA;4. IRCCS Foundation, Carlo Besta Neurological Institute, , Milan, Italy;5. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, , London, UK;6. UCL Institute of Child Health and Great Ormond Street Hospital, , London, UK;7. Department of Neurology, University of Rochester, , Rochester, NY, USA;8. Department of Pediatrics, Carver College of Medicine, University of Iowa, , Iowa City, IA, USA;9. Department of Pediatrics, Childrens Hospital of Michigan, , Detroit, MI, USA;10. Department of Neurology, Carver College of Medicine, University of Iowa, , Iowa City, IA, USA;11. Department of Neurology, Wayne State University School of Medicine, , Detroit, MI, USA |
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| Abstract: | Long‐term studies of Charcot‐Marie‐Tooth (CMT) disease across the entire lifespan require stable endpoints that measure the same underlying construct (e.g., disability). The aim of this study was to assess the relationship between the CMT Pediatric Scale (CMTPedS) and the adult CMT Neuropathy Score (CMTNSv2) in 203 children, adolescents, and young adults with CMT. There was a moderate curvilinear correlation between the CMTPedS and the CMTNSv2 (Spearman's rho ρ = 0.716, p < 0.0001), although there appears to be a floor effect of the CMTNSv2 in patients with a milder CMT phenotype. Univariate analyses indicate that the relationship between the CMTPedS and CMTNSv2 scores improves with worsening disease severity and advancing age. Although one universal scale throughout life would be ideal, our data supports the transition from the CMTPedS in childhood to the CMTNSv2 in adulthood as a continuum of measuring lifelong disability in patients with CMT. |
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| Keywords: | clinical trial inherited peripheral neuropathy natural history neuromuscular diseases outcome assessment |
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