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Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings

Authors
  • Bartholomay, Kristi L.
  • Lee, Cindy H.
  • Bruno, Jennifer L.
  • Lightbody, Amy A.
  • Reiss, Allan L.
Publication Date
Jan 12, 2019
Source
MDPI
Keywords
Language
English
License
Green
External links

Abstract

Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females. To date, the vast majority of research on FXS has predominantly targeted males, who usually exhibit greater cognitive impairment compared to females. Due to their typically milder phenotype, females may have more potential to attain a higher level of independence and quality of life than their male counterparts. However, the constellation of cognitive, behavioral, and, particularly, socio-emotional challenges present in many females with FXS often preclude them from achieving their full potential. It is, therefore, critical that more research specifically focuses on females with FXS to elucidate the role of genetic, environmental, and socio-emotional factors on outcome in this often-overlooked population.

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