Australasian Association of Clinical Geneticists 'WHAT DO WE DO WITH ALL THESE HYPERMOBILE KIDS?'

摘要

Background: A better understanding of the natural history of JHS/EDS-HT is crucial for the identification of children at risk of adverse outcomes and for development of interventions. Methods: One-hundred-one children with JHS/EDS-HT were observed for 3 years and assessed at three time points for primary outcomes (functional impairments) and secondary outcomes (connective tissue laxity, muscle function, motor control, musculoskeletal, and mul-tisystemic complaints). Cluster analysis was performed to identify severity subgroups. Clinical profiles were determined for these subgroups and differences were assessed by MANCOVA. The contribution of baseline patient characteristics identified by exploratory factor analysis toward disability at follow-up was assessed by mixed linear models. Results: Three clusters of children were identified in terms of severity at follow-up (able, functional impairments, mild disability) based on results of their 6-minute walk test, self-reported physical activity participation, and quality of life. Disability at baseline was predictive of worsening functional impairment over the next 3 years. Multiple interactions between the secondary outcomes were observed but four underlying constructs were identified. All four constructs (multisystemic effects, pain, fatigue, and loss of motor control) contributed significantly to disability (p = <.046). Conclusion: Children diagnosed with JHS/EDS-HT who have a high incidence of multisystemic complaints (particularly orthostatic intolerance, urinary incontinence, and diarrhoea) and poor motor control, in addition to high levels of pain and fatigue at baseline, are most likely to have further functional loss resulting in disability over the next 3 years.