{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T14:38:52Z","timestamp":1781361532891,"version":"3.54.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T00:00:00Z","timestamp":1617148800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS091859"],"award-info":[{"award-number":["NS091859"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Men who carry an <jats:italic>FMR1<\/jats:italic> premutation are at\u2010risk to develop a late\u2010onset neurodegenerative disorder called fragile X\u2010Associated Ataxia\/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first to describe diagnostic experiences and identify specific health information needs of male premutation carriers. In\u2010depth qualitative interviews were conducted by phone with ten men who carry an <jats:italic>FMR1<\/jats:italic> premutation. Interviews were analyzed using direct content analysis. Saturation was assessed through use of the Comparative Method for Themes Saturation in qualitative interviews (CoMeTS). Five themes were identified: diagnosis experience, sources of health information, desired health information, barriers to obtaining health information, and facilitators to desired health information. Participants desired information about inheritance, symptoms, expectations for disease, and actions available to slow progression. Facilitators to obtaining health information included healthcare provider knowledge, positive experiences with providers, beneficial family dynamics, participating in research, and access to experts. Barriers to obtaining health information included lack of personal knowledge, lack of healthcare provider knowledge, negative experiences with providers, and uncertainty. Addressing the educational needs of men with\/at\u2010risk for FXTAS could improve the quality of life of men who carry a fragile X premutation.<\/jats:p>","DOI":"10.1002\/jgc4.1399","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T17:08:00Z","timestamp":1617210480000},"page":"1156-1167","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Men with an <i>FMR1<\/i> premutation and their health education needs"],"prefix":"10.1002","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7664-5962","authenticated-orcid":false,"given":"Matthew B.","family":"Walsh","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krista","family":"Charen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of 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