An exploration of the clinical characteristics and the impact of symptomatic hypermobility in children, adolescents, and their families

Abstract

Background: Children and adolescents with symptomatic hypermobility can present with chronic musculoskeletal pain and dysfunction, along with a wide variety of multi-systemic complaints. Clinical heterogeneity poses a challenge for healthcare professionals in diagnosis as well as determining appropriate care pathways, and the impact of symptoms on family life is not well understood. Overall this thesis aimed to explore, characterise, and classify symptomatic hypermobility as well as to assess its impact on children, adolescents, and their families. Methods: This thesis employed a sequential mixed methods design. First, a scoping review was conducted using a developmental framework to determine the reported clinical characteristics of children and young people with symptomatic hypermobility. A cross-sectional study was then carried out on children and adolescents with symptomatic hypermobility. Cluster analysis was performed to identify potential subgroups of participants within this cohort. Following this, a qualitative semi-structured interview study was conducted, interviewing both patients and their families, using purposive sampling and reflexive thematic analysis. A staged approach was used to integrate the studies. Results: Clinical characteristics were found to vary across developmental stages. Inconsistent diagnostic criteria and assessment methods were identified. Participants exhibited worse fatigue, function, strength, endurance, and motor skills compared to normative data. Three clinically meaningful subgroups were identified in this data reflecting different levels of proposed care needs: High Symptom Burden, Medium Symptom Burden, and Low Symptom Burden. Three themes were identified through qualitative interviews: 1) the need to make sense of symptoms, 2) the impact of symptoms on daily lives and 3) challenges in care pathways. Conclusions: The identification of three clinically meaningful subgroups could lead to improved, targeted care pathways for symptomatic hypermobility. Greater clarity regarding clinical characteristics in symptomatic hypermobility could facilitate earlier recognition. The negative impact of symptoms on the participants and families' lives highlights the need for a renewed focus on psychological and social determinants of health outcomes in symptomatic hypermobility.