Balance impairment in pediatric charcot-marie-tooth disease

Area of Science:

• Pediatric Neurology
• Motor Control
• Neuromuscular Disorders

Background:

• Balance impairment is a significant issue in adult Charcot-Marie-Tooth disease (CMT), leading to gait dysfunction and falls.
• This problem has been understudied in pediatric populations with CMT.

Purpose of the Study:

• To investigate the prevalence and characteristics of balance impairment in children with CMT.
• To explore the associations between balance function and sensorimotor and gait impairments in pediatric CMT.

Main Methods:

• The study involved 520 children diagnosed with CMT.
• Balance was assessed using the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2).
• The CMT Pediatric Scale (CMTPedS) was also administered, alongside evaluations of sensorimotor function and gait.

Main Results:

• 42.3% of pediatric CMT participants reported daily trips or falls.
• Balance, measured by BOT-2, was impaired in 42% of 4-year-olds and declined significantly with age (P < 0.001).
• Key factors associated with poorer balance included impaired vibration and pinprick sensation, reduced ankle dorsiflexion strength, and foot malalignment. Visual dependence for balance increased with age.

Conclusions:

• Balance impairment is present early in life for children with CMT and progresses over time.
• Future balance intervention studies in pediatric CMT should incorporate assessments of sensorimotor deficits, foot alignment, and visual dependence.