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Health knowledge of women with a fragile X premutation: Improving understanding with targeted educational material
Author(s) -
Smolich Liana,
Charen Krista,
Sherman Stephanie L.
Publication year - 2020
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/jgc4.1222
Subject(s) - fragile x syndrome , medicine , test (biology) , ataxia , family medicine , psychology , psychiatry , paleontology , biology
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.