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

2017 ◽  
Vol 27 (7) ◽  
pp. 658-666 ◽  
Author(s):  
Rachel Kennedy ◽  
Kate Carroll ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Jennifer L. McGinley
2017 ◽  
Vol 56 ◽  
pp. 89-94 ◽  
Author(s):  
Elizabeth Wojciechowski ◽  
Amy Sman ◽  
Kayla Cornett ◽  
Jacqueline Raymond ◽  
Kathryn Refshauge ◽  
...  

2018 ◽  
Vol 104 (6) ◽  
pp. 535-540 ◽  
Author(s):  
Rachel A Kennedy ◽  
Kate Carroll ◽  
Graham Hepworth ◽  
Kade L Paterson ◽  
Monique M Ryan ◽  
...  

ObjectiveTo prospectively study falls in children and adolescents with Charcot-Marie-Tooth disease (CMT).DesignProspective cohort study.SettingNeuromuscular outpatient clinic of a tertiary paediatric hospital.PatientsSixty children and adolescents (‘children’) aged 4–18 years, 30 with CMT and 30 typically developing (TD).Main outcome measuresFalls rate over 6 months and falls characteristics questionnaire.ResultsTwenty-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).ConclusionsChildren and adolescents with CMT fall more often than TD peers and sustain more injuries when they fall.


2021 ◽  
Vol 86 ◽  
pp. 112-119
Author(s):  
Juliana Cardoso ◽  
Cyntia R.J. Alves de Baptista ◽  
Cristina D. Sartor ◽  
Adriana H. Nascimento Elias ◽  
Wilson Marques Júnior ◽  
...  

2018 ◽  
Vol 62 ◽  
pp. 262-267 ◽  
Author(s):  
Rachel A. Kennedy ◽  
Jennifer L. McGinley ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Kate Carroll

Author(s):  
Cyntia Rogean De Baptista ◽  
Adriana H. Nascimento-Elias ◽  
Beatriz Garcia ◽  
Amanda Testa ◽  
Paula Calori Domingues ◽  
...  

Author(s):  
Kristy J. Rose ◽  
Claire E. Hiller ◽  
Melissa Mandarakas ◽  
Jacqueline Raymond ◽  
Kathryn Refshauge ◽  
...  

2018 ◽  
Author(s):  
Rachel Kennedy ◽  
Kate Carroll ◽  
Kade L. Paterson ◽  
Monique M. Ryan ◽  
Joshua Burns ◽  
...  

Background Disability related to the progressive and degenerative neuropathies known as Charcot-Marie-Tooth disease (CMT) affects gait and function, increasing with age and influencing physical activity in adults with CMT. The relationship between disease, ambulatory function and physical activity in children and adolescents with CMT is unknown. Method A cross-sectional case-controlled study of 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; disease severity 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) mins, TD 318.0 (SD 202.5) mins; p < 0.001). The children with CMT had moderate disability [CMT Pediatric Scale mean score 20 (SD 8) /44] and reduced ambulatory capacity in a six-minute walk test [CMT 485.1 (SD 160.9) metres, TD 639.8 (83.1) metres; p < 0.001]. Physical activity correlated with greater disease severity (ρ = -0.52, p < 0.001) and six-minute walk distance (ρ = 0.71, p < 0.001). Conclusions Disease-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.


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