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Early Identification of Fragile X Syndrome through Expanded Newborn Screening
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Closing the Gender Gap in Fragile X Syndrome: Review of Females with Fragile X Syndrome and Preliminary Research Findings

1
Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA
2
Department of Radiology, Stanford University, Stanford, CA 94305, USA
3
Department of Pediatrics, Stanford University, Stanford, CA 94305, USA
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Brain Sci. 2019, 9(1), 11; https://doi.org/10.3390/brainsci9010011
Received: 1 December 2018 / Revised: 21 December 2018 / Accepted: 10 January 2019 / Published: 12 January 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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. View Full-Text
Keywords: fragile X syndrome; X chromosome; females; FMR1; anxiety; avoidance; cognition; behavior; brain fragile X syndrome; X chromosome; females; FMR1; anxiety; avoidance; cognition; behavior; brain
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Bartholomay, K.L.; Lee, C.H.; Bruno, J.L.; Lightbody, A.A.; Reiss, A.L. Closing the Gender Gap in Fragile X Syndrome: Review of Females with Fragile X Syndrome and Preliminary Research Findings. Brain Sci. 2019, 9, 11.

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