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

Kristi L Bartholomay; Cindy H Lee; Jennifer L Bruno; Amy A Lightbody; Allan L Reiss

doi:10.3390/brainsci9010011

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

Brain Sci. 2019 Jan 12;9(1):11. doi: 10.3390/brainsci9010011.

Authors

Kristi L Bartholomay¹, Cindy H Lee², Jennifer L Bruno³, Amy A Lightbody⁴, Allan L Reiss^{5

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Affiliations

¹ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. kbarthol@stanford.edu.
² Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. leecindy@stanford.edu.
³ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. jenbruno@stanford.edu.
⁴ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. aal@stanford.edu.
⁵ Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. areiss1@stanford.edu.
⁶ Department of Radiology, Stanford University, Stanford, CA 94305, USA. areiss1@stanford.edu.
⁷ Department of Pediatrics, Stanford University, Stanford, CA 94305, USA. areiss1@stanford.edu.

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.

Keywords: FMR1; X chromosome; anxiety; avoidance; behavior; brain; cognition; females; fragile X syndrome.

Publication types

Review

Abstract

Publication types

Grants and funding