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. 2019 Sep;60(3):242-249.
doi: 10.1002/mus.26500. Epub 2019 May 15.

Balance impairment in pediatric charcot-marie-tooth disease

Timothy Estilow  1 , Allan M Glanzman  1 , Joshua Burns  2 , Ann Harrington  1 , Kayla Cornett  2 , Manoj P Menezes  2 , Rosemary Shy  3 , Isabella Moroni  4 , Emanuela Pagliano  4 , Davide Pareyson  4 , Trupti Bhandari  5 , Francesco Muntoni  5 , Matilde Laurá  6 , Mary M Reilly  6 , Richard S Finkel  7 , Kate J Eichinger  8 , David N Herrmann  8 , Gregory Troutman  9 , Paula Bray  2 , Mark Halaki  10 , Michael E Shy  10 , Sabrina W Yum  11 ; CMTPedS STUDY GROUP
Affiliations

Balance impairment in pediatric charcot-marie-tooth disease

Timothy Estilow et al. Muscle Nerve. 2019 Sep.

Abstract

Introduction: Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot-Marie-Tooth disease (CMT) but has been minimally examined in pediatric CMT.

Methods: The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance function (Bruininks-Oseretsky Test of Motor Proficiency [BOT-2]) and sensorimotor and gait impairments were investigated.

Results: Daily trips/falls were reported by 42.3% of participants. Balance (BOT-2) varied by CMT subtype, was impaired in 42% of 4-year-olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT-2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age.

Discussion: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019.

Keywords: Charcot-Marie-Tooth; balance; children; intervention; sensorimotor impairment.

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Figures

Figure 1:
Figure 1:
The histogram displays the Bruininks Oseretsky Test of Motor Proficiency 2nded. (BOT-2) balance Z-score distribution of our Charcot-Marie-Tooth (CMT) cohort which is left skewed with the center around −3.25 and a wide spread that ranges from −13.67 to 1.14.
Figure 2:
Figure 2:
Step-wise regression results of Bruininks Oseretsky Test of Motor Proficiency 2nded. (BOT-2) balance, 6 minute walk test, and long jump. Identifies impairments for each functional performance outcome.
Figure 3:
Figure 3:
The histogram illustrates the prevalence of foot alignment groups (Pes Cavus, Neutral, Pes Planus) by age. The scatterplot demonstrates the wide variability of Foot Posture Index (FPI) scores across our cohort and association between age and foot alignment, which is more cavoid in older children.
Figure 4:
Figure 4:
The regression equations utilize mean age/group (TEo-Ec) times to illustrate the change in balance performance over time between the Charcot-Marie-Tooth (CMT) and age and sex-matched normative reference (NORM) groups.
See this image and copyright information in PMC

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