Abstract
BackgroundWeakness 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.MethodsThis 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.ResultsFifty-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.ConclusionAssessments 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.
Highlights
Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gaitrelated functional activities in ambulant children affected by these rare and often degenerative diseases
There is a need for expert consensus on core gait and functional ambulation assessments for use in clinical and research settings
Studies included Review of the literature resulted in 52 papers describing gait and functional ambulation in over eight neuromuscular diseases of childhood including Charcot-Marie-Tooth disease (CMT) (15 papers), Becker and Duchenne muscular dystrophies (B/Duchenne muscular dystrophy (DMD)) (21 papers), spinal muscular atrophy (SMA) (7 papers), congenital myotonic dystrophy (CMD) (2 papers), fascioscapulohumeral dystrophy (FSHD) (1 paper), Pompe disease (1 paper), collagen VI disorders (1 paper) and other mixed cohorts (4 papers) (Table 1)
Summary
Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gaitrelated functional activities in ambulant children affected by these rare and often degenerative diseases. 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. Gait and functional ambulation are important markers of disease and disability in paediatric NMD. It has been proposed that gait velocity or self-selected walking speed is the 6th vital sign of human function and is a predictor of overall health and disability [4, 5]. The assessment of gait and functional ambulation in paediatric NMD must take in to consideration the many constructs that contribute to these complex tasks, including individual impairments, the task required, and the environment in which these are performed
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