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

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 two 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 3–20 years with a variety of CMT types were recruited from the USA, UK, 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 constructed (Charcot-Marie-Tooth disease 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, 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.

Is Tibialis Anterior Tendon Transfer Effective for Recurrent Clubfoot?

“…To our knowledge, our study is the first to quantify muscle strength balance using a hand-held dynamometer in patients with congenital talipes equinovarus. Hand-held dynamometry has superior reliability and accuracy compared with manual muscle testing [5], has proven validity in other pediatric populations [2], and can be used in children as young as 2 years [21]. We found that the significant imbalance of eversion-to-inversion strength at baseline in the tibialis anterior tendon transfer group was no longer present at 3 months after surgery.…”

Binaural speech processing in individuals with auditory neuropathy

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Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

“…Children with DSD also underwent a neurologic assessment, including history, physical examination, and assessment using the Charcot–Marie–Tooth Pediatric scale (CMTPedS), a clinical rating tool designed to measure disease severity in children with CMT (Burns et al., 2012). This 11‐item rating tool provides a total score between 0 and 44, with a higher score reflecting greater impairment.…”