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

Kennedy, Rachel; Carroll, Kate; McGinley, Jennifer

doi:10.1111/jns.12183

Cited by 15 publications

(8 citation statements)

References 32 publications

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“…However, we have demonstrated that its presence could modify (or at least, be related to) gait performance. Our findings are consistent with the gait alterations found in Charcot-Marie-Tooth disease[ 34 ]. With regard to the relationship between gait parameters and corpus callous thinning, we interpret it with caution.…”

Section: Discussionsupporting

confidence: 92%

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

et al. 2018

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The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monitoring disease progression and personalizing therapies. This is currently managed by measuring values of some kinematic and spatio-temporal parameters at certain moments during the gait cycle, either in the doctor´s surgery room or after very precise measurements produced by instrumental gait analysis (IGA). These methods, however, do not provide information about the whole structure of the gait cycle. Classification of the similarities among time series of IGA measured values of sagittal joint positions throughout the whole gait cycle can be achieved by hierarchical clustering analysis based on multivariate dynamic time warping (DTW). Random forests can estimate which are the most important isolated parameters to predict the classification revealed by DTW, since clinicians need to refer to them in their daily practice. We acquired time series of pelvic, hip, knee, ankle and forefoot sagittal angular positions from 26 HSP and 33 healthy children with an optokinetic IGA system. DTW revealed six gait patterns with different degrees of impairment of walking speed, cadence and gait cycle distribution and related with patient’s age, sex, GMFCS stage, concurrence of polyneuropathy and abnormal visual evoked potentials or corpus callosum. The most important parameters to differentiate patterns were mean pelvic tilt and hip flexion at initial contact. Longer time of support, decreased values of hip extension and increased knee flexion at initial contact can differentiate the mildest, near to normal HSP gait phenotype and the normal healthy one. Increased values of knee flexion at initial contact and delayed peak of knee flexion are important factors to distinguish GMFCS stages I from II-III and concurrence of polyneuropathy.

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Section: Discussionsupporting

confidence: 92%

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

et al. 2018

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“…Review of the literature resulted in 52 papers describing gait and functional ambulation in over eight neuromuscular diseases of childhood including CMT (15 papers), Becker and Duchenne muscular dystrophies (B/DMD) (21 papers), 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). Two papers were systematic reviews of gait in CMT [18] and DMD [28]. Several papers described the same or similar cohorts, either cross-sectional and longitudinal studies [11,16,20,21,34,35,42] or a descriptive papers of a randomised controlled trial (RCT) [24,25,38,39].…”

Section: Studies Includedmentioning

confidence: 99%

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

Kennedy

Carroll

McGinley

et al. 2020

Journal of Foot and Ankle Research

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Background: 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. 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.

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“…Therapeutic interventional studies should consider expanding on the descriptors of inclusion for pes planus in children [51][52][53] to avoid the possibility of medicalising healthy physiological development [54] and potential detriment to the health economy and the individual [55,56]. The effects of footwear as a therapeutic intervention on other noteworthy conditions that impact on children's mobility such as joint hypermobility syndrome [57], spina bifida [58], developmental coordination disorder [59], juvenile idiopathic arthritis [60], and Charcot Marie Tooth [61] were not considered in the included studies.…”

Section: Discussionmentioning

confidence: 99%

Effectiveness of therapeutic footwear for children: A systematic review

Hill

Healy

Chockalingam

2020

Journal of Foot and Ankle Research

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Background: It is estimated that 2% of the global childhood population is living with some form of mobility impairment. Although footwear interventions are proposed to aid ambulation, there appears to be a paucity in the understanding of the effects of therapeutic footwear. This review aims to explore the effectiveness of footwear as an intervention for mobility impairment in children. Methods: A systematic search of MEDLINE, CINAHL, PubMed, SPORTdiscus and Scopus databases were performed. Studies which focused on children with some form of mobility impairment, age of 9 months to 18 years, therapeutic footwear that allowed walking, and outcome measures that had explored biomechanical or skeletal geometry or psychosocial aspects were included in this review. Modified Downs and Black quality assessment index of randomised and non-randomised studies were used to assess the methodologies of included papers. Results: Out of 5003 articles sourced, 13 met the inclusion criteria for this review. These were grouped into two titled "corrective and "functional" based on the types of footwear used for intervention. Studies within the corrective footwear group included participants aged 11 months to 5 years with moderate congenital talipes equino varus or mobile pes planus. While using skeletal geometry as an outcome, there was a limited fair quality (level II) evidence that corrective footwear has no significant effect on the development of pes planus but may assist in the reduction of deformity in congenital talipes equino varus. The functional footwear group included participants aged 3 to 17 years, predominantly with mobile pes planus or cerebral palsy. Based on biomechanical measures as an outcome, there was a limited fair quality (level III) evidence that functional footwear alters biomechanical parameters in mobile pes planus (spatiotemporal) and cerebral palsy (spatiotemporal, kinematic). Although psychosocial outcomes were considered within two studies, the analysis was limited. Conclusion: Only a limited number of studies have explored the effects of therapeutic footwear and only in a narrow range of mobility impairments. Further high-quality research is required to improve the evidence base for the effectiveness of therapeutic footwear. This should include a wide range of mobility impairments and should focus both on physical and psychosocial outcomes.

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

Cited by 15 publications

References 32 publications

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests

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

Effectiveness of therapeutic footwear for children: A systematic review

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