Symptomatic hypermobility in children and young people: A scoping review of clinical characteristics using a developmental framework

Abstract

OBJECTIVE: To evaluate the literature on children and young people with symptomatic hypermobility using a developmental framework. METHODS: A search was conducted in EMBASE, Medline, CINAHL, Web of Science and grey literature. Full text articles reporting children and young people (birth to 24 years) with a confirmed diagnosis of symptomatic hypermobility (including Hypermobility Spectrum Disorder or hypermobile Ehlers-Danlos syndrome) using internationally recognised criteria or equivalent diagnoses were included. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Extension for Scoping Reviews methodology was followed. RESULTS: Of the 1619 studies screened, 163 were included in the scoping review. Studies were published from 1967-2021, 30% were narrative reviews and 24% were case reports, from a range of journals. Musculoskeletal and cutaneous characteristics were common in all developmental stages. Cardiovascular characteristics including autonomic dysfunction, fatigue, and gastrointestinal issues were reported more frequently by adolescents. Young adult studies were scarce and included mostly case reports. Varied diagnostic criteria and assessment methods were identified. The Beighton Score was frequently used (93%), but rarely standardised (12%) and lacked consensus regarding the cut-off point of hypermobility. CONCLUSIONS: This novel systematic scoping review identifies the changing phenotype of symptomatic hypermobility from childhood to adolescence, and the unique stage of young adulthood. There is a lack of guidance regarding the utilisation of standardised tools to assess hypermobility in clinical practice and research. Numerous and inconsistent diagnostic criteria and assessment methods limit the data analysis. Case control and longitudinal studies using defined, bespoke criteria and assessments are needed.