Katy Eichinger1, Joshua Burns2, Kayla Cornett2, Chelsea Bacon2, Mary Lohse Shepherd2, Joan Mountain2, Janet Sowden2, Rosemary Shy2, Michael E Shy2, David N Herrmann2. 1. From the Department of Neurology (K.E., J.M., J.S., D.N.H.), University of Rochester, NY; Faculty of Health Sciences & Children's Hospital at Westmead (J.B., K.C.), University of Sydney, Australia; and Departments of Neurology (C.B., M.E.S.), Physical Therapy (M.L.S.), and Pediatrics (R.S.), University of Iowa, Carver College of Medicine, Iowa City. Katy_eichinger@urmc.rochester.edu. 2. From the Department of Neurology (K.E., J.M., J.S., D.N.H.), University of Rochester, NY; Faculty of Health Sciences & Children's Hospital at Westmead (J.B., K.C.), University of Sydney, Australia; and Departments of Neurology (C.B., M.E.S.), Physical Therapy (M.L.S.), and Pediatrics (R.S.), University of Iowa, Carver College of Medicine, Iowa City.
Abstract
OBJECTIVE: The purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT disease. METHODS: Adults with CMT type 1A (CMT1A) were recruited at the Universities of Rochester and Iowa. Participants were assessed using the CMT-FOM, CMT Exam Score (CMTES), and a symptom report. Test-retest reliability was examined using intraclass correlation coefficients, internal consistency using Cronbach α, and convergent and known-groups validity using Spearman rank analysis and the Mann-Whitney test. RESULTS: Forty-three individuals (70% women; mean age 41, SD 14.9 years) participated. The CMT-FOM (mean 25.3 ± 8.7, range 12-44/52) was moderately correlated with the CMTES (ρ = 0.62; p < 0.0001) and exhibited acceptable reliability (intraclass correlation coefficient = 0.92) and internal consistency (Cronbach α = 0.81). The CMT-FOM discriminated between participants with clinically mild vs moderate-severe CMT1A. Participants with the mildest CMT1A who demonstrated a floor effect on the CMTES showed functional limitations on the CMT-FOM. CONCLUSIONS: The CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. It appears to be reliable, and our data support convergent and known-groups validity in adults with CMT1A. Longitudinal studies further examining the psychometric properties of the CMT-FOM and its responsiveness to change before its application in therapeutic trials are necessary.
OBJECTIVE: The purpose of this study was to examine the feasibility, reliability, and convergent validity of the Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM), a new performance-based measure assessing functional ability in adults with CMT disease. METHODS: Adults with CMT type 1A (CMT1A) were recruited at the Universities of Rochester and Iowa. Participants were assessed using the CMT-FOM, CMT Exam Score (CMTES), and a symptom report. Test-retest reliability was examined using intraclass correlation coefficients, internal consistency using Cronbach α, and convergent and known-groups validity using Spearman rank analysis and the Mann-Whitney test. RESULTS: Forty-three individuals (70% women; mean age 41, SD 14.9 years) participated. The CMT-FOM (mean 25.3 ± 8.7, range 12-44/52) was moderately correlated with the CMTES (ρ = 0.62; p < 0.0001) and exhibited acceptable reliability (intraclass correlation coefficient = 0.92) and internal consistency (Cronbach α = 0.81). The CMT-FOM discriminated between participants with clinically mild vs moderate-severe CMT1A. Participants with the mildest CMT1A who demonstrated a floor effect on the CMTES showed functional limitations on the CMT-FOM. CONCLUSIONS: The CMT-FOM is well tolerated and showed no floor/ceiling effects in an adult CMT1A cohort matching those likely to enter upcoming clinical trials. It appears to be reliable, and our data support convergent and known-groups validity in adults with CMT1A. Longitudinal studies further examining the psychometric properties of the CMT-FOM and its responsiveness to change before its application in therapeutic trials are necessary.
Authors: Kayla M D Cornett; Manoj P Menezes; Rosemary R Shy; Isabella Moroni; Emanuela Pagliano; Davide Pareyson; Timothy Estilow; Sabrina W Yum; Trupti Bhandari; Francesco Muntoni; Matilde Laura; Mary M Reilly; Richard S Finkel; Kate J Eichinger; David N Herrmann; Paula Bray; Mark Halaki; Michael E Shy; Joshua Burns Journal: Ann Neurol Date: 2017-09 Impact factor: 10.422
Authors: Joshua Burns; Robert Ouvrier; Tim Estilow; Rosemary Shy; Matilde Laurá; Julie F Pallant; Monkol Lek; Francesco Muntoni; Mary M Reilly; Davide Pareyson; Gyula Acsadi; Michael E Shy; Richard S Finkel Journal: Ann Neurol Date: 2012-05 Impact factor: 10.422
Authors: Nicholas E Johnson; Chad R Heatwole; Nuran Dilek; Janet Sowden; Callyn A Kirk; Denise Shereff; Michael E Shy; David N Herrmann Journal: Neuromuscul Disord Date: 2014-06-27 Impact factor: 4.296
Authors: Sinéad M Murphy; David N Herrmann; Michael P McDermott; Steven S Scherer; Michael E Shy; Mary M Reilly; Davide Pareyson Journal: J Peripher Nerv Syst Date: 2011-09 Impact factor: 3.494
Authors: Reza Sadjadi; Mary M Reilly; Michael E Shy; Davide Pareyson; Matilde Laura; Sinead Murphy; Shawna M E Feely; Tiffany Grider; Chelsea Bacon; Giuseppe Piscosquito; Daniela Calabrese; Ted M Burns Journal: J Peripher Nerv Syst Date: 2014-09 Impact factor: 3.494
Authors: Davide Pareyson; Mary M Reilly; Angelo Schenone; Gian Maria Fabrizi; Tiziana Cavallaro; Lucio Santoro; Giuseppe Vita; Aldo Quattrone; Luca Padua; Franco Gemignani; Francesco Visioli; Matilde Laurà; Davide Radice; Daniela Calabrese; Richard A C Hughes; Alessandra Solari Journal: Lancet Neurol Date: 2011-04 Impact factor: 44.182
Authors: V Fridman; B Bundy; M M Reilly; D Pareyson; C Bacon; J Burns; J Day; S Feely; R S Finkel; T Grider; C A Kirk; D N Herrmann; M Laurá; J Li; T Lloyd; C J Sumner; F Muntoni; G Piscosquito; S Ramchandren; R Shy; C E Siskind; S W Yum; I Moroni; E Pagliano; S Zuchner; S S Scherer; M E Shy Journal: J Neurol Neurosurg Psychiatry Date: 2014-11-27 Impact factor: 10.154
Authors: Vera Fridman; Stefan Sillau; Gyula Acsadi; Chelsea Bacon; Kimberly Dooley; Joshua Burns; John Day; Shawna Feely; Richard S Finkel; Tiffany Grider; Laurie Gutmann; David N Herrmann; Callyn A Kirk; Sarrah A Knause; Matilde Laurá; Richard A Lewis; Jun Li; Thomas E Lloyd; Isabella Moroni; Francesco Muntoni; Emanuela Pagliano; Chiara Pisciotta; Giuseppe Piscosquito; Sindhu Ramchandren; Mario Saporta; Reza Sadjadi; Rosemary R Shy; Carly E Siskind; Charlotte J Sumner; David Walk; Janel Wilcox; Sabrina W Yum; Stephan Züchner; Steven S Scherer; Davide Pareyson; Mary M Reilly; Michael E Shy Journal: Neurology Date: 2020-02-11 Impact factor: 9.910
Authors: Paula Bray; Kayla M D Cornett; Timothy Estilow; Davide Pareyson; Riccardo Zuccarino; Mariola Skorupinska; Menelaos Pipis; Janet E Sowden; Steven Scherer; Mary M Reilly; Michael E Shy; David N Herrmann; Joshua Burns; Katy J Eichinger Journal: J Peripher Nerv Syst Date: 2020-08-26 Impact factor: 3.494
Authors: Katy Eichinger; Janet E Sowden; Joshua Burns; Michael P McDermott; Jeffrey Krischer; John Thornton; Davide Pareyson; Steven S Scherer; Michael E Shy; Mary M Reilly; David N Herrmann Journal: Front Neurol Date: 2022-06-27 Impact factor: 4.086