title: Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
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.
authors.affiliation: The University of Sydney & Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia. joshua.burns@health.nsw.gov.au
authors.forename: Joshua
authors.initials: J
authors.lastname: Burns
authors.forename: Manoj
authors.initials: M
authors.lastname: Menezes
authors.forename: Richard S
authors.initials: RS
authors.lastname: Finkel
authors.forename: Tim
authors.initials: T
authors.lastname: Estilow
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Emanuela
authors.initials: E
authors.lastname: Pagliano
authors.forename: Matilde
authors.initials: M
authors.lastname: Laurá
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: David N
authors.initials: DN
authors.lastname: Herrmann
authors.forename: Kate
authors.initials: K
authors.lastname: Eichinger
authors.forename: Rosemary
authors.initials: R
authors.lastname: Shy
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.forename: Michael E
authors.initials: ME
authors.lastname: Shy
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D008297:Male; D063868:Patient Outcome Assessment; D012720:Severity of Illness Index; D055815:Young Adult