Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
13 Feb 2024
Historique:
medline: 18 1 2024
pubmed: 18 1 2024
entrez: 18 1 2024
Statut: ppublish

Résumé

Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of Participants were recruited through CMT clinics in the United States (n = 130), the United Kingdom (n = 52), and Italy (n = 32). To derive the most accurate signal with the fewest items to identify a therapeutic response, a series of validation studies were conducted including item and factor analysis, Rasch model analysis and testing of interrater reliability, discriminative ability, and convergent validity. A total of 214 participants aged 18-75 years with CMT1A (58% female) were included in this study. Item, factor, and Rasch analysis supported the viability of the 12-item CMT-FOM as a unidimensional interval scale of function in adults with CMT1A. The CMT-FOM covers strength, upper and lower limb function, balance, and mobility. The 0-100 point scoring system showed good overall model fit, no evidence of misfitting items, and no person misfit, and it was well targeted for adults with CMT1A exhibiting high inter-rater reliability across a range of clinical settings and evaluators. The CMT-FOM was significantly correlated with the CMT Examination Score ( The CMT-FOM is a psychometrically robust multi-item, unidimensional, disease-specific COA covering strength, upper and lower limb function, balance, and mobility to capture how participants with CMT1A function to identify therapeutic efficacy.

Sections du résumé

BACKGROUND AND OBJECTIVES OBJECTIVE
Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of
METHODS METHODS
Participants were recruited through CMT clinics in the United States (n = 130), the United Kingdom (n = 52), and Italy (n = 32). To derive the most accurate signal with the fewest items to identify a therapeutic response, a series of validation studies were conducted including item and factor analysis, Rasch model analysis and testing of interrater reliability, discriminative ability, and convergent validity.
RESULTS RESULTS
A total of 214 participants aged 18-75 years with CMT1A (58% female) were included in this study. Item, factor, and Rasch analysis supported the viability of the 12-item CMT-FOM as a unidimensional interval scale of function in adults with CMT1A. The CMT-FOM covers strength, upper and lower limb function, balance, and mobility. The 0-100 point scoring system showed good overall model fit, no evidence of misfitting items, and no person misfit, and it was well targeted for adults with CMT1A exhibiting high inter-rater reliability across a range of clinical settings and evaluators. The CMT-FOM was significantly correlated with the CMT Examination Score (
DISCUSSION CONCLUSIONS
The CMT-FOM is a psychometrically robust multi-item, unidimensional, disease-specific COA covering strength, upper and lower limb function, balance, and mobility to capture how participants with CMT1A function to identify therapeutic efficacy.

Identifiants

DOI: 10.1212/WNL.0000000000207963 PMID: 38237108
pubmed: 38237108
doi: 10.1212/WNL.0000000000207963
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e207963

Auteurs

Melissa R Mandarakas (MR)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-6604-3973

Katy J Eichinger (KJ)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0003-4623-7014

Paula Bray (P)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-5874-1667

Kayla M D Cornett (KMD)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-9863-1040

Michael E Shy (ME)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0001-8460-6971

Mary M Reilly (MM)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.

Gita M Ramdharry (GM)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0001-9344-0301

Steven S Scherer (SS)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-3900-2367

Davide Pareyson (D)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0001-6854-765X

Timothy Estilow (T)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.

Marnee J McKay (MJ)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-8126-3579
From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.

David N Herrmann (DN)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0002-9030-9516

Joshua Burns (J)

From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.
ORCID: 0000-0001-7936-623X

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