Abstract
Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with HCTD experience burden of disease. This study aims to quantify fatigue, pain, disability and general health with standardized validated questionnaires. Methods. This observational, multicenter study included 107 children, aged 4–18 years, with Marfan syndrome (MFS), 58%; Loeys-Dietz syndrome (LDS), 7%; Ehlers-Danlos syndromes (EDS), 8%; and hypermobile Ehlers-Danlos syndrome (hEDS), 27%. The assessments included PROMIS Fatigue Parent–Proxy and Pediatric self-report, pain and general health Visual-Analogue-Scales (VAS) and a Childhood Health Assessment Questionnaire (CHAQ). Results. Compared to normative data, the total HCTD-group showed significantly higher parent-rated fatigue T-scores (M = 53 (SD = 12), p = 0.004, d = 0.3), pain VAS scores (M = 2.8 (SD = 3.1), p < 0.001, d = 1.27), general health VAS scores (M = 2.5 (SD = 1.8), p < 0.001, d = 2.04) and CHAQ disability index scores (M = 0.9 (SD = 0.7), p < 0.001, d = 1.23). HCTD-subgroups showed similar results. The most adverse sequels were reported in children with hEDS, whereas the least were reported in those with MFS. Disability showed significant relationships with fatigue (p < 0.001, rs = 0.68), pain (p < 0.001, rs = 0.64) and general health (p < 0.001, rs = 0.59). Conclusions. Compared to normative data, children and adolescents with HCTD reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. This new knowledge calls for systematic monitoring with standardized validated questionnaires, physical assessments and tailored interventions in clinical care.
Highlights
Heritable Connective Tissue Disorders (HCTD) are characterized by pathological connective tissue fragility in multiple organ systems
The most adverse sequels were reported in children with hypermobile Ehlers-Danlos syndrome (hEDS), whereas the least were reported in those with Marfan syndrome (MFS)
Participants with hEDS were informed by the MFS and Ehlers-Danlos Syndromes (EDS) patient associations and contacted the research team themselves if they were interested in participating in the study
Summary
Heritable Connective Tissue Disorders (HCTD) are characterized by pathological connective tissue fragility in multiple organ systems. It is unclear to what extent children and adolescents with HCTD experience physical impairments, limitations in activities and burden of disease, and whether there is a difference among HCTD-subgroups [8]. Studies in children with MFS and hEDS have reported fatigue and pain to negatively impact daily (physical) functioning [7,11,12,13,14,15,16,17,18,19], a high incidence of pain-related disability [17] and deteriorating physical functioning over time [20]. No quantitative studies, using validated questionnaires, have been conducted into pain, fatigue and disability in children with MFS, LDS and molecularly confirmed types of EDS (hereafter EDS). A few studies in children and adolescents with hEDS and Hypermobility
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