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Men with an FMR1 premutation and their health education needs.

Publication ,  Journal Article
Walsh, MB; Charen, K; Shubeck, L; McConkie-Rosell, A; Ali, N; Bellcross, C; Sherman, SL
Published in: J Genet Couns
August 2021

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.

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Published In

J Genet Couns

DOI

EISSN

1573-3599

Publication Date

August 2021

Volume

30

Issue

4

Start / End Page

1156 / 1167

Location

United States

Related Subject Headings

  • Quality of Life
  • Male
  • Humans
  • Health Education
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Fragile X Syndrome
  • Fragile X Mental Retardation Protein
  • Ataxia
  • 3202 Clinical sciences
 

Citation

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Walsh, M. B., Charen, K., Shubeck, L., McConkie-Rosell, A., Ali, N., Bellcross, C., & Sherman, S. L. (2021). Men with an FMR1 premutation and their health education needs. J Genet Couns, 30(4), 1156–1167. https://doi.org/10.1002/jgc4.1399
Walsh, Matthew B., Krista Charen, Lisa Shubeck, Allyn McConkie-Rosell, Nadia Ali, Cecelia Bellcross, and Stephanie L. Sherman. “Men with an FMR1 premutation and their health education needs.J Genet Couns 30, no. 4 (August 2021): 1156–67. https://doi.org/10.1002/jgc4.1399.
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, et al. Men with an FMR1 premutation and their health education needs. J Genet Couns. 2021 Aug;30(4):1156–67.
Walsh, Matthew B., et al. “Men with an FMR1 premutation and their health education needs.J Genet Couns, vol. 30, no. 4, Aug. 2021, pp. 1156–67. Pubmed, doi:10.1002/jgc4.1399.
Walsh MB, Charen K, Shubeck L, McConkie-Rosell A, Ali N, Bellcross C, Sherman SL. Men with an FMR1 premutation and their health education needs. J Genet Couns. 2021 Aug;30(4):1156–1167.
Journal cover image

Published In

J Genet Couns

DOI

EISSN

1573-3599

Publication Date

August 2021

Volume

30

Issue

4

Start / End Page

1156 / 1167

Location

United States

Related Subject Headings

  • Quality of Life
  • Male
  • Humans
  • Health Education
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Fragile X Syndrome
  • Fragile X Mental Retardation Protein
  • Ataxia
  • 3202 Clinical sciences