Browsing by Subject "Hypermobility"

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    Assessment of Gait Mechanics and Muscle Strength in Hypermobile Ehlers Danlos Syndrome
    (Elsevier, 2024) Ball, Lindsey N.; Jacobs, Mariana V.; McLouth, Christopher J.; Clasey, Jody; Francomano, Clair; Sheppard, Mary B.; Samaan, Michael A.; Medical and Molecular Genetics, School of Medicine
    Background: Hypermobile Ehlers Danlos Syndrome, a heritable connective tissue disorder, is associated with muscle dysfunction, joint subluxations and pain. The impact of hypermobile Ehlers Danlos Syndrome on musculoskeletal mechanics is understudied. Therefore, the aim of this study was to assess the effects of hypermobile Ehlers Danlos Syndrome on lower extremity gait mechanics and muscle strength. Methods: Eleven people with hypermobile Ehlers Danlos Syndrome and 11 asymptomatic controls underwent a 3D gait analysis and isometric hip and knee muscle strength assessment. Joint subluxations were self-reported by the hypermobile Ehlers Danlos syndrome group. Independent t-tests and Mann Whitney U tests were used to analyze joint mechanics, muscle strength, and patient report outcomes (p < 0.05). Findings: Both groups exhibited similar walking speeds as well as similar hip, knee, and ankle joint kinematics. The hypermobile Ehlers Danlos Syndrome group walked with a lower peak hip extensor moment (hypermobile Ehlers Danlos Syndrome: -0.52 ± 0.28 Nmˑkg-1, Control: -0.83 ± 0.26 Nmˑkg-1, p = 0.01) yet similar knee and ankle joint moments. The hypermobile Ehlers Danlos Syndrome group exhibited a 40% deficit in peak hip extensor strength (hypermobile Ehlers Danlos Syndrome:1.07 ± 0.53 Nmˑkg-1, Control: 1.77 ± 0.79 Nmˑkg-1, p = 0.04). Approximately 73%, 55% and 45% of the hypermobile Ehlers Danlos Syndrome cohort self-reported hip, knee/patella and ankle joint subluxations, respectively, at least once a week. Interpretation: Patients with hypermobile Ehlers Danlos Syndrome ambulated with altered hip extensor moments and exhibit hip extensor weakness. Future work should investigate the underlying mechanisms of hip extensor weakness and corresponding effects on joint health in people with hypermobile Ehlers Danlos Syndrome.
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    Estimates of the excess cost burden of Ehlers-Danlos syndromes: a United States MarketScan® claims database analysis
    (Frontiers Media, 2024-07-03) Schubart, Jane R.; Schaefer, Eric W.; Knight, Dacre R. T.; Mills, Susan E.; Francomano, Clair A.; Medical and Molecular Genetics, School of Medicine
    Introduction: Patients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) have significant health challenges that are well-documented, however their impact in terms of cost is not known. Our research objective was to examine the cost burden of EDS and HSD in the United States. We focused this analysis on those with commercial insurance plans. Methods: We queried the MarketScan® database for year 2021 for claims that contained an ICD-10 diagnosis code for EDS or hypermobility. Excess costs for patients in the EDS and HSD cohorts were determined by matching each patient to one patient in the database that did not have a claim for EDS or HSD and comparing total costs for the calendar year. We determined whether patients had claims for selected comorbid conditions likely to impact costs during the calendar year. Results: Sample sizes were 5,113 for adult (age ≥ 18) patients with EDS, 4,880 for adult patients with HSD, 1,059 for child (age 5-17) patients with EDS, and 2,427 for child patients with HSD. The mean excess costs were $21,100 for adult EDS patients, $11,600 for adult HSD patients, $17,000 for child EDS patients, and $11,000 for child HSD patients. EDS and HSD cohorts, both adults and children, with any of the comorbidities had greater healthcare costs. The largest difference was found in the EDS cohort with gastrointestinal comorbid conditions, with more than double the costs for adults. Discussion: We found that patients in the MarketScan database, adults and children, who had EDS or HSD had substantially higher associated excess healthcare costs than patients without EDS or HSD when considering age, sex, geographic location, and comorbidities. These disproportionate healthcare costs in this population have health policy and economic implications, including the need for rapid diagnosis, access to treatment, and accelerated research to advance treatments.