Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Abstract

Hypermobile Ehlers‐Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Individuals with hEDS between the ages 12–20 years and matched parents were recruited through retrospective chart review at two genetics clinics. Participants completed a questionnaire that included the Pediatric Quality of Life Inventory (PedsQL™), PedsQL Multidimentional Fatigue Scale, Functional Disability Inventory, Pain‐Frequency‐Severity‐Duration Scale, the Brief Illness Perception Questionnaire, measures of anxiety and depression, and helpful interventions. Survey responses were completed for 47 children and adolescents with hEDS/hypermobility spectrum disorder (81% female, mean age 16 years), some by the affected individual, some by their parent, and some by both. Clinical data derived from chart review were compared statistically to survey responses. All outcomes correlated moderately to strongly with each other. Using multiple regression, general fatigue and pain scores were the best predictors of the PedsQL total score. Additionally, presence of any psychiatric diagnosis was correlated with a lower PedsQL score. Current management guidelines recommend early intervention to prevent disability from deconditioning; these results may help identify target interventions in this vulnerable population.

Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

“…Although some research to date, as above described, has delineated a relationship between pain and metrics of quality of life in pediatric JHS and EDS, a greater examination of as-of-yet under-examined aspects (e.g., social functioning) is warranted. This line of inquiry is especially valuable, in light of recent findings which suggest that among the predictors of quality of life in pediatric EDS, greater pain, along with greater fatigue, presents as the strongest predictor of diminished quality of life [83]. Through horseshoe and elastic net regressions, when selecting from various demographic and disease variables, pain and fatigue emerged as the strongest predictors of every measure of quality of life (physical, emotional, social, school, and psychosocial functioning) among adolescents with hEDS [83].…”

“…This line of inquiry is especially valuable, in light of recent findings which suggest that among the predictors of quality of life in pediatric EDS, greater pain, along with greater fatigue, presents as the strongest predictor of diminished quality of life [83]. Through horseshoe and elastic net regressions, when selecting from various demographic and disease variables, pain and fatigue emerged as the strongest predictors of every measure of quality of life (physical, emotional, social, school, and psychosocial functioning) among adolescents with hEDS [83]. As such, a greater examination of how pain impacts quality of life in pediatric EDS is warranted.…”

“…In addition to the lack of representation and consideration of males with EDS, generalizations are ill-advised with respect to race and ethnicity, given the predominant focus on White, non-Latinx, children and adolescents with JHS and EDS. To date, the majority of studies indicate a White non-Latinx subject majority, ranging from 64% [33] to 93.6% [83] with most studies falling in the upper range. It should, however, be noted that such a lack of representation in research is not believed to be representative of the true rate of incidence of EDS in more racially diverse populations, but instead the pervasive racial bias in the assessment and treatment of pain [89] leading to underdiagnosis of EDS in said populations.…”

Outcome measures for assessing change over time in studies of symptomatic children with hypermobility: a systematic review

“…There is a substantial impact of fatigue on quality of life of children with GJH and associated symptoms (15,19,20,43,44). The most poorly functioning children diagnosed with hypermobility and associated symptoms experience worse fatigue and higher pain intensity than their peers (32).…”

Beyond Bones - The Relevance of Variants of Connective Tissue (Hypermobility) to Fibromyalgia, Me/CFS and Controversies Surrounding Diagnostic Classification: An Observational Study

“…[34][35][36][37][38][39][40][41][42][43][44][45] The morbidity of hEDS/HSD to patients is most commonly expressed as complaints to clinicians of chronic musculoskeletal pain, headache and fatigue. These symptoms impair physical activity and quality of life [34][35][36][37][38][39][40][41][42][43][44][45] , common to both FIbromyalgia and ME/CFS. In rheumatology clinics, symptomatic hypermobility is estimated to contribute to nearly half of all outpatient appointments, but is only recognised 1 out of 19 times 46 .…”