Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material

• Authors: L Smolich, Emory University; K Charen, Emory University; Stephanie Sherman, Emory University
• Journal Title: JOURNAL OF GENETIC COUNSELING
• Volume: Volume 29, Number 6
• Publisher: WILEY | 2020-01-30, Pages 983-991
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1002/jgc4.1222
• Subjects: Biology, Genetics; Health Sciences, Public Health
• Keywords: Science & Technology; Social Sciences; Life Sciences & Biomedicine; Genetics & Heredity; Health Policy & Services; Social Sciences, Biomedical; Health Care Sciences & Services; Biomedical Social Sciences; communication; education; fragile X permutation; fragile X syndrome; FXPOI; FXTAS; health literacy; intellectual disability; ovarian insufficiency; FMR1 PREMUTATION; LITERACY; CARRIERS

Abstract

Women who carry a fragile X premutation are at risk for at least two major health conditions and for transmitting fragile X syndrome (FXS) to their children. The two health concerns include fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS). The aim of this study was to evaluate whether written educational information about these conditions would increase knowledge and facilitate communication. Women with a premutation (N = 142) completed an online pre-test to assess their knowledge of premutation-associated conditions, and 135 women who provided an address received a booklet titled Women's Health and the Fragile X Premutation. After 3 months, 51.1% completed the post-test. Major gaps in knowledge were related to FXPOI and factors associated with repeat expansion. To determine whether the booklet helped to fill gaps in knowledge, we compared pre- and post-test scores. Scores were significantly increased after receipt of the booklet (p <.05, Wilcoxon signed rank test). Participants answered that the booklet was ‘very helpful’ (44.6%) or ‘somewhat helpful’ (38.5%). Twenty-four participants (34.8%) reported using the booklet to explain concepts to family members. Although we found that the booklet provided women with needed information, we found that gaps in knowledge still exist.