{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T22:48:19Z","timestamp":1752101299924,"version":"3.40.5"},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,13]],"date-time":"2022-08-13T00:00:00Z","timestamp":1660348800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ehlers\u2010Danlos syndrome, hypermobility type (hEDS) is a heritable connective tissue disorder that currently does not have a known molecular etiology. Previous studies have explored the complex symptomology, clinical diagnosis, and psychological aspects of hEDS. Genetics providers currently aid in the diagnosis and management guidance of patients with hEDS, but there is limited data describing the needs and expectations of individuals with hEDS from a clinical genetics appointment. Our study sought to explore these items through the use of an online survey to assess participants' beliefs, needs and expectations (BNE) for genetic counseling as well as questions about demographics, hEDS symptoms, and current medical care. A total of 460 respondents with hEDS completed the survey. Most participants felt joint pain\/weakness (<jats:italic>n<\/jats:italic>\u00a0=\u00a0392; 88%) was one of the most disruptive symptoms of hEDS and 63% (<jats:italic>n<\/jats:italic>\u00a0=\u00a0289) reported having psychiatric conditions. BNE scores were highest in two domains: expectations to have psychosocial concerns addressed during a genetic counseling appointment (mean score\u00a0=\u00a04.4\/5; SD\u00a0=\u00a00.56) and desire for positive feelings after a genetic counseling session (mean score\u00a0=\u00a04.3\/5; SD\u00a0=\u00a00.59). Participants who previously had genetic counseling felt less unsure about their diagnosis (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.02) and had lower need for information about hEDS (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Majority of participants did not feel that their doctors were knowledgeable about hEDS (<jats:italic>n<\/jats:italic>\u00a0=\u00a0269; 58%) and strongly supported a multidisciplinary approach to their care (<jats:italic>n<\/jats:italic>\u00a0=\u00a0445; 97%). This research provides a framework for genetics providers and other healthcare professionals to assess the needs and expectations of patients with hEDS and consider re\u2010structuring their appointment formats to service this population.<\/jats:p>","DOI":"10.1002\/ajmg.a.62945","type":"journal-article","created":{"date-parts":[[2022,8,13]],"date-time":"2022-08-13T11:31:06Z","timestamp":1660390266000},"page":"3172-3183","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile <scp>Ehlers\u2010Danlos<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5112-1599","authenticated-orcid":false,"given":"Priyanka","family":"Ahimaz","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Molecular Genetics Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar","family":"Kramer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical Genetics Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pooja","family":"Swaroop","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"McKenzie","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Medical Genetics Clinic University of Alberta Hospital  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Hernan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Molecular Genetics Columbia University Vagelos College of Physicians and Surgeons  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4977-9719","authenticated-orcid":false,"given":"Kwame","family":"Anyane\u2010Yeboa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical Genetics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1507-884X","authenticated-orcid":false,"given":"Elaine M.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical Genetics Columbia University Vagelos College of Physicians and Surgeons and NewYork\u2010Presbyterian Morgan Stanley Children's Hospital  New York New York 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