Open AccessIdentity and Reproductive Aspects in Females with Fragile X Syndrome
Author(s) -
Sarah Reiss,
Laura Zalles,
Catherine Gbekie,
Reymundo Lozano
Publication year - 2021
Publication title -
women's health reports
Language(s) - English
Resource type - Journals
ISSN - 2688-4844
DOI - 10.1089/whr.2021.0059
Subject(s) - fragile x syndrome , fmr1 , intellectual disability , fragile x , identification (biology) , genetic counseling , psychology , identity (music) , medicine , developmental psychology , psychiatry , genetics , biology , gene , botany , physics , acoustics
Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particularly amongst females. This article aims to review the perspectives of women with the full mutation in relation to Fragile X Syndrome identification, romantic desires, and reproductive decision making. Methods: We generated an online survey of 33 questions to be administered to 31 women that had visited our Fragile X Syndrome Clinic and members of the National Fragile X Foundation. We extrapolated common themes from the obtained data. Results: The results showed that most women often struggled with identifying as a female with FXS. Furthermore, many women are interested in childbearing, however most are in need of genetic counseling. Conclusions: Further research to advance the understanding of the specific needs of women with FXS is necessary.