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Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children
Emanuela Pagliano1, Isabella Moroni2, Giovanni Baranello1
1Developmental Neurology Division, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.
Insights
Current Charcot-Marie-Tooth (CMT) outcome measures are not ideal for children. This study found that standard adult scales have limited potential for evaluating impairment and disability in pediatric CMT type 1A patients, highlighting the need for child-specific tools.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Charcot-Marie-Tooth (CMT) disease is a common inherited neuromuscular disorder with childhood onset and progressive nature.
- Existing outcome measures for CMT are primarily validated for adult populations.
- There is a critical need for reliable and valid assessment tools for pediatric CMT patients.
Purpose of the Study:
- To evaluate the utility of commonly used adult outcome measures in assessing impairment and disability in children with CMT type 1A.
- To determine if existing scales can accurately capture the disease's impact on pediatric patients.
Main Methods:
- A comprehensive evaluation of 21 children with CMT type 1A was conducted.
- Methods included clinical examinations, hand-held dynamometry for muscle strength, and validated scales: CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12, and nine-hole peg test (9-HPT).
Main Results:
- Muscle strength (grip, pinch, dorsiflexion) was significantly reduced compared to age/sex norms in most participants.
- The nine-hole peg test (9-HPT) was abnormal in 62%, and the CMT Examination Score was consistently low (<10) across all patients.
- The ONLS indicated minor upper limb disability in 57% and mild gait abnormalities in 71% of children.
Conclusions:
- Standard adult outcome measures demonstrate limited potential in accurately measuring disability and disease severity in pediatric CMT.
- The findings underscore the necessity of developing and validating specific assessment scales tailored for children affected by CMT.
Abstract:
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was <10 points in all cases. ONLS showed presence of minor disability in the upper limbs in 57% and mild abnormalities of gait in 71% of patients. Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT.
