Gait in children and adolescents with Charcot-Marie-Tooth disease: a systematic review.

Symptoms of Charcot-Marie-Tooth (CMT) disease typically arise in childhood or adolescence with gait difficulty most common. A systematic review was conducted to synthesise, review, and characterise gait in paediatric CMT. Health-related electronic databases were reviewed with search terms related to CMT and gait. Of 454 articles, 10 articles describing seven studies met eligibility criteria; samples ranged from 1 to 81, included mixed CMT sub-types and had a participant mean age of 13 years. Assessments included a variety of methods to examine only barefoot gait. Heterogeneity of gait patterns was noted. Children and adolescents with CMT walked slower, most likely due to shorter stride length. Common kinematic and kinetic abnormalities included significant foot drop during swing, reduced calf muscle power, and proximal compensatory mechanisms in the lower limb. Little data were found to inform typical functional gait characteristics or change over time. Of note, barefoot assessment does not reflect function in everyday life where footwear is commonly worn. With limited existing literature, future studies of gait in paediatric CMT need to evaluate the influence of diagnostic sub-types and disease progression; the effect of factors such as footwear and the environment; and to explore changes in gait and function throughout childhood and adolescence.

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

BACKGROUND: Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and functional ambulation should consider the impairments, activity limitations and participation restrictions due to disease, and factors related to the environment and the individual person. METHODS: This narrative review involved a literature search of databases including Medline, Embase and Pubmed from 1946 to October 2019. Inclusion criteria included assessments of gait, endurance and ambulatory function in paediatric (0-18 years) neuromuscular diseases. RESULTS: Fifty-two papers were identified reporting assessments of gait speed, timed function, endurance and ambulatory capacity, gait-related balance and qualitative descriptive assessments of gait function and effect of disease on gait and gait-related activities. Gait speed is an indicator of disability and children with neuromuscular disease walk slower than typically developing peers. Increasing disease severity and age were associated with slower walking in children with Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. The six-minute walk test is used widely as a test of endurance and ambulatory capacity; six-minute walk distance was substantially reduced across all paediatric neuromuscular diseases. Endurance and ambulatory capacity was more limited in children with spinal muscular atrophy type 3, congenital muscular dystrophy and older boys with Duchenne muscular dystrophy. Only a few papers considered normalisation of gait parameters accounting for the effect on gait of height in heterogeneous groups of children and linear growth in longitudinal studies. Balance related to gait was considered in five papers, mainly in children with Charcot-Marie-Tooth disease. There was limited investigation of factors including distance requirements and terrain in children's typical environments and personal factors related to self-perception of disease effect on gait and gait-related function. CONCLUSION: Assessments of gait and functional ambulation are important considerations in documenting disease progression and treatment efficacy in the clinical setting; and in clinical trials of disease-modifying agents and physiotherapeutic interventions in paediatric neuromuscular diseases. There is a need for expert consensus on core gait and functional ambulation assessments for use in clinical and research settings.

Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study.

BACKGROUND: Disability related to the progressive and degenerative neuropathies known collectively as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between CMT-related disability, ambulatory function and physical activity in children and adolescents with CMT is unknown. METHOD: A cross-sectional case-controlled study of physical activity in 50 children with CMT and age- and gender-matched typically developing (TD) controls [mean age 12.5 (SD 3.9) years]. A 7-day recall questionnaire assessed physical activity; CMT-related disability and gait-related function were measured to explore factors associated with physical activity. RESULTS: Children with CMT were less active than TD controls (estimated weekly moderate to vigorous physical activity CMT 283.6 (SD 211.6) minutes, TD 315.8 (SD 204.0) minutes; p < 0.001). The children with CMT had moderate disability [CMT Pediatric Scale mean score 17 (SD 8) /44] and reduced ambulatory capacity in a six-minute walk test [CMT 507.7 (SD 137.3) metres, TD 643.3 (74.6) metres; p < 0.001]. Physical activity correlated with greater disability (ρ = -0.56, p < 0.001) and normalised six-minute walk distance (ρ = 0.74, p < 0.001). CONCLUSIONS: CMT-related disability affects physical activity and gait-related function in children and adolescents with CMT compared to TD peers. Reduced physical activity adversely affects function across the timespan of childhood and adolescence into adulthood in people with CMT.

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

OBJECTIVE: To prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT). DESIGN: Prospective cohort study. SETTING: Neuromuscular outpatient clinic of a tertiary paediatric hospital. PATIENTS: Sixty children and adolescents ('children') aged 4-18 years, 30 with CMT and 30 typically developing (TD). MAIN OUTCOME MEASURES: Falls rate over 6 months and falls characteristics questionnaire. RESULTS: Twenty-two children with CMT reported falling at least once in 6 months compared with eight TD children (CMT 2819 (0-1915), TD 31 (0-6) total falls (range)). Detailed falls characteristics were collected from 242 individual falls (CMT 216, TD 26). Injurious falls were reported by 19 children with CMT (74 falls) compared with 2 TD children (3 falls), with cuts, grazes and bruising most common. No fractures were sustained and no child required hospitalisation. However, 12 injuries from falls in children with CMT required management by a healthcare provider, versus none in TD children. Tripping was the most common mechanism of falls in both groups. Age was the strongest predictor of falls (ρ=-0.53, p=0.006) with all children (CMT and TD) aged <7 years falling. Balance was the strongest impairment-related predictor of falls (ρ=-0.47, p=0.02). The conservative estimate of risk of falls in children and adolescents with CMT was 33 times higher than their TD peers (incidence rate ratio=32.8, 95% CI 10.2 to 106.0). CONCLUSIONS: Children and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.

Gait and footwear in children and adolescents with Charcot-Marie-Tooth disease: A cross-sectional, case-controlled study.

OBJECTIVE: Children with Charcot-Marie-Tooth disease (CMT) report problems with gait and footwear. We evaluated differences in spatio-temporal gait variables and gait variability between children with CMT and typically developing (TD) children, and investigated the effect of footwear upon gait. METHOD: A cross-sectional study of 30 children with CMT and 30 age- and gender-matched TD children aged 4-18 years. Gait was assessed at self-selected speed on an electronic walkway while barefoot and in two types of the child's own footwear; optimal (e.g., athletic-type runners) and suboptimal (e.g., flip-flops). RESULTS: Children with CMT walked more slowly (mean (SD) -13.81 (3.61) cm/s), with shorter steps (-6.28 (1.37) cm), wider base of support (+2.47 (0.66) cm; all p < 0.001) and greater base of support variability (0.48 (0.15) cm, p = 0.002) compared to TD children. Gait was faster in optimal footwear than suboptimal (-7.55 (1.31) cm/s) and barefoot (-7.42 (1.07) cm/sec; both p < 0.001) in the combined group of children. Gait in suboptimal footwear was more variable compared to barefoot and optimal footwear. Greater base of support variability and reduced balance was moderately correlated for both groups (CMT and TD). CONCLUSION: Gait is slower with shorter, wider steps and greater base of support variability in children with CMT. Poor balance is associated with greater base of support gait variability. Suboptimal footwear negatively affects gait in all children (CMT and TD), which has clinical implications for children and adolescents with CMT who have weaker feet and ankles, and poor balance.

Deterioration in gait and functional ambulation in children and adolescents with Charcot-Marie-Tooth disease over 12 months.

Children and adolescents with Charcot-Marie-Tooth disease (CMT) report problems with gait. Little is known about gait changes over time in children with this degenerative disease. This prospective longitudinal study investigated change in spatio-temporal gait parameters and functional ambulation. Two assessments were conducted 12 months apart. Assessments included: barefoot gait on an electronic walkway; functional ambulation with a six minute walk test and the Functional Mobility Scale; and disease severity with the CMT Pediatric Scale. Gait and strength data were normalised to body anthropometrics. Twenty-seven children (mean age 12.2, SD 3.7 years) with various CMT subtypes (CMT1A 52%) were evaluated. Over 12 months, normalised variables of gait speed, stride length and six minute walk distance significantly decreased. The CMT Pediatric Scale increased 0.7 points, indicating marginal but not significant worsening of disease; notably calf strength decreased significantly over 12 months. Baseline maximum ankle dorsiflexion angle, gastrocnemius and hamstrings length, and calf strength correlated with decline in gait speed, with maximum ankle dorsiflexion angle as the strongest predictor. Deterioration over one year in normalised variables of gait speed, stride length and distance walked in six minutes are indicators of functional decline and disease progression in children and adolescents with CMT.