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. 2012 May;71(5):642-52.
doi: 10.1002/ana.23572.

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

Joshua Burns  1 , 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
Affiliations

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability

Joshua Burns et al. Ann Neurol. 2012 May.

Abstract

Objective: Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials are increasingly occurring. Patients usually develop symptoms during the first 2 decades of life, but there are no established outcome measures of disease severity or response to treatment. We identified a set of items that represent a range of impairment levels and conducted a series of validation studies to build a patient-centered multi-item rating scale of disability for children with CMT.

Methods: As part of the Inherited Neuropathies Consortium, patients aged 3 to 20 years with a variety of CMT types were recruited from the USA, United Kingdom, Italy, and Australia. Initial development stages involved definition of the construct, item pool generation, peer review, and pilot testing. Based on data from 172 patients, a series of validation studies were conducted, including item and factor analysis, reliability testing, Rasch modeling, and sensitivity analysis.

Results: Seven areas for measurement were identified (strength, dexterity, sensation, gait, balance, power, endurance), and a psychometrically robust 11-item scale was constructed (CMT Pediatric Scale [CMTPedS]). Rasch analysis supported the viability of the CMTPedS as a unidimensional measure of disability in children with CMT. It showed good overall model fit, no evidence of misfitting items, and no person misfit, and it was well targeted for children with CMT.

Interpretation: The CMTPedS is a well-tolerated outcome measure that can be completed in 25 minutes. It is a reliable, valid, and sensitive global measure of disability for children with CMT from the age of 3 years.

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Figures

Figure 1
Figure 1
Final version of the 11-item CMTPedS data form.
Figure 2
Figure 2
Relationship between the CMTPedS score and advancing age. Older age was significantly associated with a higher CMTPedS reflecting the progression of the disease with age.
See this image and copyright information in PMC

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