Falls in paediatric Charcot-Marie-Tooth disease: a 6-month prospective cohort study

Abstract

Children and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.

Balance impairment in pediatric charcot–marie–tooth disease

“…However, from the age of 4 years (the youngest we can compare with NORM) they show balance deficits that increase with age, despite the continued integration of their visual and vestibular systems. This early balance deficit that we identified is consistent with previous findings of increased falls for 4‐year‐old children with CMT compared with their typically developing peers (2.2 vs. 0.004 falls per day) . This is likely due to the progressive sensory impairment that can manifest in CMT.…”

“…The early onset of balance deficits and resultant impact on ambulation demonstrated in this study support the requirement for early therapeutic intervention for children with CMT. The underlying impairments in strength (dorsiflexion) and sensation (vibratory and pinprick) in addition to foot alignment explained 28% of the variance in balance and are consistent with findings from previous work identifying balance and foot dorsiflexion strength as having fair negative correlations with total falls . This forms a basis for understanding the factors that contribute to balance in CMT, which is significantly associated with ambulation (as measured by the 6MWT) and creates a framework to begin to investigate causative relationships and to create a context in which one might frame an investigation of an impairment‐based treatment approach with a focus on those impairments that might be impacted with exercise or appropriate orthotic management .…”

“…In addition to the developmental aspects of balance in the typically developing child, the progressive sensory and motor impairments associated with CMT negatively impact standing balance. As a result, safety during activities of daily living and sports/leisure activities can also be limited because children with CMT are 33 times more likely to fall compared with their typically developing peers . Somatosensation is one determinant of balance that is diminished in patients with CMT and has been investigated both from experimental and natural history perspectives.…”

“…As a result, safety during activities of daily living and sports/leisure activities can also be limited 10 because children with CMT are 33 times more likely to fall compared with their typically developing peers. 11 Somatosensation is one determinant of balance that is diminished in patients with CMT and has been investigated both from experimental and natural history perspectives. More severely affected adults with CMT1A, the most common form of CMT, and those with CMT2 experience increased sway in single leg stance compared with typical controls.…”

What system controls balance in children with charcot‐marie‐tooth disease?

“…Children with CMT fall more frequently at home, suggesting that the task and environmental demands in addition to intrinsic characteristics of the individual matter. While postural control performance in laboratory or clinical settings mimics real‐world conditions, it is imperfect, particularly with regard to balance.…”