O3268: Prevalence of Pain and Impact of Joint Strength on Physical Function in Pediatric Patients with Ehlers-danlos Syndrome

Background: Hypermobile Ehlers-Danlos Syndrome (hEDS) is an inherited subtype of EDS, which results in defective connective tissue synthesis and processing. Individuals with hEDS experience joint hypermobility accompanied by musculoskeletal pain, weakness, fatigue, joint subluxations, and dislocations. Physical therapy (PT) is the recommended treatment for musculoskeletal symptoms, and results in improved joint strength and endurance, however, baseline strength and location of pain is unclear for children with hEDS. This study aims to describe the initial musculoskeletal presentations of children with hEDS including location of pain, joint strength, and patient-reported outcomes (PROs).

Methods: Information was collected from a chart review of initial PT evaluations of children after an EDS diagnosis and from PROs. Joint strength was graded on a scale of 1- to 5+. The values were converted to a 10-point scale for analysis, with a higher score representative of increased joint strength. The Patient-Reported Outcome Measurement Information System (PROMIS) Physical Function Mobility (PF-Mobility) subscale of the Pediatric Profile version 2.0 was completed by patients and used to evaluate physical function mobility (four domains with a 1- to 5-point Likert scale, with higher score representative of better physical function mobility). The values of PF-Mobility were compared to the values of individual joint strength to assess relationship between joint strength and physical function mobility.

Results: There were 46 patients who had a PT evaluation within one month after hEDS diagnosis. They had an average age of 16.3 years (range 9-18 years), and were 96% female. A source of pain was identified in 96%, with knee pain reported in 68%, shoulder pain reported in 46%, and hip pain reported in 41% (Figure 1.). Average joint strength was 9.3, 8.6, and 8.2 in the knee, shoulder, and hip, respectively, and the average PF-Mobility was 2.7 across all patients. There was a positive relationship between joint strength (in the hip, shoulder, and knee) and physical function mobility (PF-Mobility) (Figure 2.).

Conclusion: This study shows that most children with hEDS have knee pain, but almost half also have shoulder and hip pain. We also found that increased joint strength is related to better physical function mobility. These findings may help to focus PT on areas that are more commonly affected or more painful. Further investigation is needed to better understand the best approaches to PT for children with hEDS, given the combination of common presentations across patients and variability in other body parts. It may be helpful to further characterize differences in joint strength, specific joint pain, and movement biomechanics, to develop EDS-specific PT protocols.