Hypermobility syndromes in paediatrics: progressions in assessment and management
Mooney, Alice Margaret
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Joint Hypermobility Syndrome (JHS) and Ehlers Danlos Syndrome-Hypermobility Type (EDS-HM) referred to collectively as Hypermobility Syndromes (HMS), are heritable disorders of connective tissue comprising symptomatic joint hypermobility predisposing to arthralgia, soft-tissue injury and joint instability which if not managed effectively result in ongoing cycles of disability. How HMS affects paediatric patients and how physiotherapists approach the condition in this population is unclear. The aim of this thesis was to address gaps in knowledge and practice and advance strategies in assessment and management of symptoms. Study 1 involved an original online survey of paediatric physiotherapists, gauging understanding of HMS in children, and investigating current trends in clinical practice regarding diagnosis, treatment and management, in a UK context. Findings highlighted the prevalence of musculoskeletal pain and injury in children, the unsuitability of current diagnostic tools for assessing children, the lack of a standardised approach to diagnosis in addition to preferences for exercise interventions. This needs analysis informed Study 2 which involved the design and implementation of a novel Physical Assessment Battery for Paediatric Hypermobility merging 4 existing tests: the Nine-Point Beighton Score, Revised Brighton Criteria, Paediatric Balance Scale and Paediatric Pain Questionnaire, to capture a more complete profile of symptoms in the functional and clinical assessment of children. Children with diagnoses of HMS were assigned to a clinical group (n=29), and age and gender matched children recruited as a control group (n=25) were tested. Distinct differences were revealed between groups in terms of functional balance, pain intensity and location and trends in physical activity, exercise and sport, in addition to significant correlations observed between hypermobility and both balance and pain intensity scores. Findings from Study 1 and Study 2 twinned with supplementary qualitative data, collectively confirm the need to validate a paediatric specific assessment tool, and design blended treatment and management strategies for children experiencing symptoms to increase quality of life and reduce disability.