Premium
Men with an FMR1 premutation and their health education needs
Author(s) -
Walsh Matthew B.,
Charen Krista,
Shubeck Lisa,
McConkieRosell Allyn,
Ali Nadia,
Bellcross Cecelia,
Sherman Stephanie L.
Publication year - 2021
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1002/jgc4.1399
Subject(s) - qualitative research , genetic counseling , medicine , health care , disease , psychology , public health , gerontology , family medicine , nursing , sociology , genetics , biology , social science , pathology , economics , economic growth
Men who carry an FMR1 premutation are at‐risk to develop a late‐onset neurodegenerative disorder called fragile X‐Associated 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‐depth qualitative interviews were conducted by phone with ten men who carry an FMR1 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‐risk for FXTAS could improve the quality of life of men who carry a fragile X premutation.