Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders
Open accessAbstract
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.
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In a cohort of 47 10-20-year-olds (Beighton score 4-9), self-reported fatigue was greater than controls, with higher fatigue-related disability.
“In a cohort of 47 10–20-year old's (Beighton score 4–9) self-reported fatigue was greater than controls, with higher fatigue-related disability [42].”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [42]
The Results report 47 self-reporting patients, Beighton scores ranging from 4 to 9, and low fatigue scores indicating greater fatigue-related disability; the Discussion compares fatigue scores with healthy controls. However, the Methods describe the patient participants as aged 12–20 years, not 10–20 years. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredFatigue (diagnosed per the 2015 CDC IOM criteria after excluding other medical causes) can present in children with hypermobility.
“Fatigue diagnosed per the 2015 CDC IOM criteria [31], after other medical causes have been excluded, can present in children with hypermobility.”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [42]
The Discussion (page unavailable in our copy) says children and adolescents with hEDS/HSD can experience significant fatigue, supporting its occurrence in children with hypermobility. The paper does not say that fatigue was diagnosed using the 2015 CDC/IOM criteria or after excluding other medical causes; it reports fatigue scores instead. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe presence of psychiatric disorders was found to be associated with a lower quality of life score in 47 children and adults (ages 10-20 years) with hEDS/HSD (Beighton score 4-9).
“The presence of psychiatric disorders was found to be associated with a lower quality of life score in 47 children and adults (ages 10–20 years) with hEDS/HSD (Beighton score 4–9) [42].”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [42]
The Discussion reports that a psychiatric diagnosis was correlated with a lower PedsQL score, and the Results give the cohort’s Beighton score range as 4–9. The Abstract describes 47 participants aged 12–20, not 10–20; the Methods’ reference to a questionnaire for ages 10–12 does not establish that 10-year-olds participated. Page numbers were not available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredChildren and adolescents with hypermobility reported headache and recurrent abdominal pain.
“Children and adolescents in these studies also reported headache [42], and recurrent abdominal pain [43].”
From Pediatric joint hypermobility: a diagnostic framework and narrative review (2023) · cites this paper as [42]
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- Authors
- Mu, W., Muriello, M., Clemens, J. L., Wang, Y., Smith, C. H., Tran, P. T., Rowe, P. C., Francomano, C. A., Kline, A. D., & Bodurtha, J.
- Affiliations
- Johns Hopkins University (US)
- Greater Baltimore Medical Center (US)
- Corresponding author
- Mu, Weiyi
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2019-01-31
- Volume
- 179
- Issue
- 4
- Pages
- 561-569
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC7029373
- OpenAlex
- W2913036123
- Cited by
- 71
- References
- 56
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 7 · 2023: 22 · 2022: 14 · 2021: 12 · 2020: 5 · 2019: 1
- FWCI
- 4.82
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Center for Advancing Translational Sciences (UL1 TR001079)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pediatric Pain Management Techniques
- Keywords
- hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorders, quality of life, children and adolescents, fatigue, chronic pain, functional disability, illness perception, anxiety and depression, connective tissue diseases, PedsQL, deconditioning
- MeSH terms
- Adolescent, Adult, Child, Ehlers-Danlos Syndrome, Female, Humans, Joint Instability, Male, Quality of Life, Surveys and Questionnaires, Retrospective Studies, Young Adult
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