Browsing by Subject "Ehlers-Danlos syndrome"

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    Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases
    (JMIR, 2024-12-30) Doyle, Tom A.; Vershaw, Samantha L.; Conboy, Erin; Halverson, Colin M. E.; Medical and Molecular Genetics, School of Medicine
    Background: The rarity that is inherent in rare disease (RD) often means that patients and parents of children with RDs feel uniquely isolated and therefore are unprepared or unsupported in their care. To overcome this isolation, many within the RD community turn to the internet, and social media groups in particular, to gather useful information about their RDs. While previous research has shown that social media support groups are helpful for those affected by RDs, it is unclear what these groups are particularly useful or helpful for patients and parents of children with RDs. Objective: This study aimed to identify what specific features of disease-related support groups (DRSGs) the RD community finds particularly useful or supportive and provide a set of recommendations to improve social media-based RD support groups based on this information. Methods: Semistructured qualitative interviews were performed with patients and parents of patients with RDs. Interview participants had to be at least 18 years of age at the time of the interview, be seen by a genetics specialist at a partner health care institution and be proficient in the English language. Social media use was not a prerequisite for participation, so interview participants ranged from extensive users of social media to those who chose to remain off all social media. All interviews were conducted by phone, recorded, and then transcribed. Interview transcripts were then coded using the 6 steps outlined by Braun and Clarke. Three researchers (TAD, SLV, and CMEH) performed initial coding. After this, the study team conducted a review of themes and all members of the team agreed upon a final analysis and presentation of data. Results: We conducted 31 interviews (mean age 40, SD 10.04 years; n=27, 87% were women; n=30, 97% were non-Hispanic White). Thematic analysis revealed that social media DRSG users identified the informational usefulness of these groups as being related to the gathering and sharing of specific information about an RD, clarification about the importance and meaning of certain symptoms, and obtaining insight into an RD's progression and prognosis. Participants also identified that DRSGs were useful sources of practical information, such as tips and tricks about managing RD-related issues and concerns. In addition, participants found DRSGs to be a useful space for sharing their disease-related stories but also highlighted a feeling of exhaustion from overexposure and overuse of DRSGs. Conclusions: This study identifies the usefulness of DRSGs for the RD community and provides a set of recommendations to improve future instances of DRSGs. These recommendations can be used to create DRSGs that are less prone to splintering into other DRSGs, thus minimizing the risk of having important RD-related information unhelpfully dispersed amongst a multitude of support groups.
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    Outcomes of orthopaedic surgery in Ehlers-Danlos syndromes: a scoping review
    (Springer Nature, 2024-10-24) Schubart, Jane R.; Mills, Susan E.; Rodeo, Scott A.; Francomano, Clair A.; Medical and Molecular Genetics, School of Medicine
    Background: Patients with Ehlers-Danlos syndromes (EDS) often experience high rates of joint subluxations and dislocations, and associated pain that may require surgical interventions. Orthopaedic surgical management is challenging in this population, and patients will often undergo multiple unsuccessful surgeries. Outcomes data specific to patients with EDS are sparse in the orthopaedic surgery literature. We conducted a scoping review to evaluate the evidence and outcomes for orthopaedic surgery specifically for the EDS population. Methods: PubMed MEDLINE, Embase, The Cochrane Library, Cochrane Controlled Register of Trials (CENTRAL), CINHL, and Scopus from their inception to February 28, 2024 for all studies that reported outcomes for orthopaedic surgery in patients with EDS. Two reviewers independently determined study eligibility, rated study quality, and extracted data. Methodology followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The studies in this scoping review include Level III (retrospective cohort and case control) and Level IV (case series) evidence. Results: The literature search yielded a total of 71 citations published between 1990 and 2023. All were primary studies. 38 were single case studies, 14 were case series, and 19 were retrospective cohort studies. No randomized clinical studies or systematic reviews were identified. Overall, the reported findings for the various anatomical sites and procedures indicated that surgery outcomes were inconsistent. Our review highlights the need for future research to determine whether currently established surgical approaches for various orthopaedic conditions offer long-term clinical benefit in patients with EDS. This is clearly a challenging diagnosis, and more rigorous clinical studies are required to identify optimal treatment approaches. Conclusions: Our review found little evidence-based research to guide optimal surgical treatment in EDS. Established surgical techniques that have been shown to be successful in the wider orthopaedic population should be studied to determine their efficacy in the EDS population.
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    Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region
    (Springer Nature, 2024-03-14) Wagner, Wendy; Doyle, Tom A.; Francomano, Clair A.; Knight, Dacre R. T.; Halverson, Colin M. E.; Medical and Molecular Genetics, School of Medicine
    Background: The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility. The complex nature of this unique patient population requires multidisciplinary care, but appropriate centers for such care do not exist in large portions of the country. Need for more integrated services has been identified in Chicagoland, or Chicago and its suburbs. In order to explore and begin to address barriers to seeking appropriate care facing EDS patients in this region, we developed an online survey which we circulated through EDS social media groups for Chicagoland patients. Results: Three hundred and nine unique respondents participated. We found that there exists a strong medical need for and interest in the development of a center in the region, and participants reported that, if made available to them, they would make extensive and regular use of such a facility. Conclusions: We conclude that the establishment of a collaborative medical center specializing in the diagnosis and treatment of EDS, Hypermobility Spectrum Disorder, and related disorders in the Chicagoland area would greatly benefit patients by providing comprehensive care, alleviate the burden on overworked healthcare providers, and contribute to the sustainability of medical facilities.
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    Refractory Syncope and Presyncope Associated with Atlantoaxial Instability: Preliminary Evidence of Improvement Following Surgical Stabilization
    (Elsevier, 2021) Henderson, Fraser C., Sr.; Rowe, Peter C.; Narayanan, Malini; Rosenbaum, Robert; Koby, Myles; Francomano, Clair A.; Medical and Molecular Genetics, School of Medicine
    Background The proclivity to atlantoaxial instability (AAI) has been widely reported for conditions such as rheumatoid arthritis and Down syndrome. Similarly, we have found a higher than expected incidence of AAI in hereditary connective tissue disorders. We demonstrate a strong association of AAI with manifestations of dysautonomia, in particular syncope and lightheadedness, and make preliminary observations as to the salutary effect of surgical stabilization of the atlantoaxial motion segment. Methods In an institutional review board–approved retrospective study, 20 subjects (16 women, 4 men) with hereditary connective tissue disorders had AAI diagnosed by computed tomography. Subjects underwent realignment (reduction), stabilization, and fusion of the C1-C2 motion segment. All subjects completed preoperative and postoperative questionnaires in which they were asked about performance, function, and autonomic symptoms, including lightheadedness, presyncope, and syncope. Results All patients with AAI reported lightheadedness, and 15 had refractory syncope or presyncope despite maximal medical management and physical therapy. Postoperatively, subjects reported a statistically significant improvement in lightheadedness (P = 0.003), presyncope (P = 0.006), and syncope (P = 0.03), and in the frequency (P < 0.05) of other symptoms related to autonomic function, such as nausea, exercise intolerance, palpitations, tremors, heat intolerance, gastroesophageal reflux, and sleep apnea. Conclusions This study draws attention to the potential for AAI to present with syncope or presyncope that is refractory to medical management, and for surgical stabilization of AAI to lead to improvement of these and other autonomic symptoms.