Validation of the Italian version of the Charcot-Marie-Tooth Health Index

Chiara Pisciotta; Emma Ciafaloni; Riccardo Zuccarino; Daniela Calabrese; Paola Saveri; Silvia Fenu; Irene Tramacere; Filippo Genovese; Nuran Dilek; Nicholas E Johnson; Chad Heatwole; David N Herrmann; Davide Pareyson; ACT-CMT Study Group

doi:10.1111/jns.12397

Validation of the Italian version of the Charcot-Marie-Tooth Health Index

J Peripher Nerv Syst. 2020 Sep;25(3):292-296. doi: 10.1111/jns.12397. Epub 2020 Jun 24.

Authors

Affiliations

¹ Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
² Department of Neurology, University of Rochester, Rochester, New York, USA.
³ Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
⁴ Neuromuscular Omnicentre-Fondazione Serena Onlus, Arenzano, Italy.
⁵ ACMT-Rete per la malattia di Charcot-Marie-Tooth, OdV, Bologna, Italy.
⁶ Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA.
⁷ Center for Health and Technology, University of Rochester, Rochester, New York, USA.

Abstract

The Charcot-Marie-Tooth Health Index (CMT-HI) is a disease-specific patient-reported outcome measure measuring overall disease burden in Charcot-Marie-Tooth (CMT) patients, designed for natural history studies and clinical trials in English-speaking affected individuals. We developed and validated its Italian Charcot-Marie-Tooth Health Index (I-CMT-HI) version. The questionnaire was translated and culturally adapted from source into Italian by two neurologists experienced in CMT and neuromuscular disorders (NMDs). The two translations were reviewed by a panel of seven experts in CMT and NMD. The provisional version was back-translated into English by a professional translator. The definitive Italian version was developed during a consensus teleconference by the panel and a patient representative from ACMT-Rete. A series of clinically and genetically characterized CMT patients completed the final questionnaire; 11 participated in a test-retest reliability assessment of the instrument. The I-CMT-HI was administered to 30 CMT patients (13 CMT1A, eight CMTX1, two CMT1B, two CMT1E, two CMT2I, one CMT2A, one CMT2N, one distal Hereditary Motor Neuropathy), with test-rest in 11:14 females and 16 males, aged (mean ± SD) 48.0 ± 16.4 years (range 18-81), with CMT Examination Score (CMTES) = 10.0 ± 4.4 (range 2-18). The I-CMT-HI mean total score was 29.4 ± 21.2 (range 0.1-60.3). The I-CMT-HI showed a high test-retest reliability: intraclass correlation coefficient = 0.95 (95% confidence interval, 0.84-0.99). No patient had difficulty in completing the questionnaire and none reported any problem with the questions' formulation. The total CMT-HI score was positively correlated with age and CMTES, with higher disease burden with increasing age and disease severity according to the CMTES. The I-CMT-HI is now ready for use in clinical studies in the Italian population.

Keywords: Charcot-Marie-Tooth disease; clinical trials; patient-reported outcome measures; quality of life; translation and cultural adaptation.

Publication types

Research Support, N.I.H., Extramural
Validation Study

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Charcot-Marie-Tooth Disease / diagnosis*
Female
Humans
Italy
Male
Patient Reported Outcome Measures*
Psychometrics / methods
Psychometrics / standards*
Reproducibility of Results
Severity of Illness Index*
Young Adult

Abstract

Publication types

MeSH terms

Grants and funding