Original Research
Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties

https://doi.org/10.1016/j.bjpt.2020.07.008Get rights and content

Highlights

  • The CMTPedS-Br is culturally appropriate for the Brazilian population.

  • The CMTPedS-Br showed adequate reliability and face validity.

  • The CMTPedS-Br will allow Brazil to be part of multicentered studies on such a rare but debilitating condition.

Abstract

Background

The Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) has been used to measure aspects of disability in children with all types of Charcot-Marie-Tooth disease (CMT).

Objective

To translate and cross-culturally adapt the CMTPedS into Brazilian–Portuguese and determine its reliability and validity.

Methods

The translation and cross-cultural adaptation followed international guidelines recommendations. Twenty individuals with CMT were assessed. Two examiners assessed the participants for inter-rater reliability. Face validity was assessed by eight physical therapists that judged the relevance of each test item. The Bland-Altman analysis (bias) and standard error of measurement (SEM) complemented the analysis. Furthermore, intraclass correlation coefficients (ICC), weighted kappa (k), and internal consistency (Cronbach’s alpha) was determined.

Results

The CMTPedS was successfully translated and cross-culturally adapted. Twenty children/youth were enrolled in the study. Of these, the majority (55%) were girls with a mean age of 13.9 (range: from 6 to 18) years. Regarding face validity, the CMTPedS-Br showed relevant items for assessing children and youth with CMT. The ICC for the total score showed excellent reliability (ICC2.1  = 0.93, 95% CI = 0.84, 0.97). The most reliable items were grip, dorsiflexion and plantar flexion strength while the least reliable items were pinprick, vibration, and gait. The internal consistency was excellent (α = 0.96, 95% CI = 0.91, 0.99) and the agreement showed small variability (bias = 0.15, 95% CI= -4.28, 4.60).

Conclusion

The CMTPedS-Br showed adequate reliability and face validity to measure disability in individuals with CMT. This tool will allow Brazil to be part of multicentered studies on such a rare but debilitating condition.

Introduction

Charcot-Marie-Tooth disease (CMT) is a rare hereditary neuropathy that affects the peripheral nerves. The burden of CMT disease in Brazil is unknown, but the prevalence in the world population is 1/2500.1, 2 CMT is divided into two major groups: demyelinating (CMT1) and axonal neuropathy (CMT2), with CMT1 being the most prevalent. The first clinical signs are delayed motor development and toe walking, along with tripping or falling in toddlers.3, 4 Older children and youth with CMT show impairments and activity limitations in several areas of functioning such as sensory function and pain (e.g. balance and vibration perception), neuromusculoskeletal and movement-related activities (e.g. foot deformities, muscle weakness, ankle instability, hip luxation, and gait deviation) and mobility (e.g. limited/impaired walking, jumping, etc).1, 5, 6, 7 These impairments and limitations impact on child/youth’s participation (e.g. sports activities) and quality of life, which requires appropriate assessment to identify specific needs of the population and to determine best management.8

The lack of available instruments for measuring disability among children with neuromuscular disease is a challenge for researchers and rehabilitation professionals.9 The Motor Function Measure (MFM) is the gold standard for assessing gross motor function in children with neuromuscular disease.9 However, the clinical applicability of the MFM for children with CMT is limited as the impairments frequently seen in CMT are different from those seen in children with other neuromuscular conditions. For instance, while the MFM focuses on gross motor abilities, children with CMT typically also present with peripheral symptoms (e.g. sensation and strength deficits)10 which are not assessed by the MFM. This highlights the need of a more specific and relevant instrument for CMT.10

The CMT Neuropathy Score was the first validated standardized instrument for adults with CMT.11, 12 From this instrument, consistent with the guidelines of the Inherited Neuropathies Consortium, the Charcot-Marie-Tooth Pediatric Scale (CMTPedS) was developed and validated for assessing children and youth with CMT.2, 13 The CMTPedS is an 11-item, norm-referenced tool intended to measure strength, dexterity, sensation, gait, balance, power, and endurance in patients with CMT aged 3–20 years.13 This tool allows specific evaluation of baseline performance and disease severity, as well as assessment of outcomes in longitudinal studies investigating current or novel intervention (e.g. exercise or pharmacological approaches).13

The original English version of the CMTPedS has demonstrated good internal consistency and excellent inter-rater reliability 13 The CMTPedS has been translated into French14 and Italian15 and been tested in 14 and 17 children with CMT, respectively. There is evidence to suggest that assessment with the French and Italian versions was well-tolerated by the children and therefore, the scale may be considered a promising outcome measure for assessing and monitoring children with CMT.14, 15 Thus, considering the lack of assessment tool to appropriately assess children and youth with CMT in Brazil, the translation and cross-cultural adaption of the CMTPedS to Brazilian-Portuguese is warranted. Furthermore, the assessment of other measurement properties such as reliability and face-validity will complement the original work on the CMTPedS and help inform the clinical utility of this tool.13 Thus, the objectives of this study were to translate and cross-culturally adapt the CMTPedS for the Brazilian-Portuguese population, and evaluate its measurement properties, including face validity, inter-rater reliability, and internal consistency.

Section snippets

Design

This was a cross-sectional observational study approved by the Research Ethics Committee of the Universidade Federal dos Vales do Jequitinhonha e Mucuri with the consent from the Ribeirão Preto Medical School - University of São Paulo (02817418.2.1001.5108). This study followed the Guidelines for reporting reliability and agreement studies (GRRAS)16 and Consensus-based Standards for the selection of health Measurement Instruments (COSMIN).17

CMTPedS description

The CMTPedS is a norm-referenced tool that has been

Translation and cross-cultural adaptation

Following the committee's review, the scale was modified to address some grammatical and translation errors. Some words were reformulated, and some terms were replaced by similar ones, such as “pinprick” translated and adapted to “dor” and “long jump” translated and adapted to “salto”. In the original manual of the CMTPedS, the Citec® hand-held dynamometer is recommended to assess plantar flexion, dorsiflexion and hand grip strength. In the CMTPedS-Br version, we have included an asterisk to

Discussion

The present study followed the recommendations and methodology of Beaton et al.21 and Guillemin et al.20 and successfully translated the CMTPedS into Brazilian-Portuguese. The CMTPedS-Br tool showed excellent reliability and appropriated face validity to assess the Brazilian pediatric population with CMT.

This research evaluated both equivalence of meaning in both cultures and preserved the meaning of each item in the native language. The small changes that were made, according to the

Conflicts of interest

The authors declare no conflicts of interest.

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