Hippocampal dysfunction and cognitive impairment in Fragile-X Syndrome

2016 ◽  
Vol 68 ◽  
pp. 563-574 ◽  
Author(s):  
Crystal Bostrom ◽  
Suk-yu Yau ◽  
Namat Majaess ◽  
Mariana Vetrici ◽  
Joana Gil-Mohapel ◽  
...  
2019 ◽  
Vol 40 (6) ◽  
pp. 1355-1365 ◽  
Author(s):  
Ya-ping Pei ◽  
Yue-yi Wang ◽  
Dan Liu ◽  
Hui-yang Lei ◽  
Zhi-hao Yang ◽  
...  

2009 ◽  
Vol 9 (4) ◽  
pp. 108-112 ◽  
Author(s):  
Paul J. Hagerman ◽  
Carl E. Stafstrom

Fragile X syndrome is the leading heritable form of cognitive impairment and the leading known monogenic disorder associated with autism. Roughly one-quarter of children with this disorder have seizures, most of which are relatively benign and are resolved beyond childhood. Because of the prevalence of fragile X syndrome, numerous animal models have been developed and electrophysiological studies have taken place to investigate its pathogenesis. The investigations have yielded a wealth of information regarding the synaptic dysfunction that underlies the hyperexcitability and epileptiform features associated with this disorder.


2019 ◽  
Vol 9 (1) ◽  
pp. 11 ◽  
Author(s):  
Kristi Bartholomay ◽  
Cindy Lee ◽  
Jennifer Bruno ◽  
Amy Lightbody ◽  
Allan Reiss

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.


2017 ◽  
Vol 90 (4) ◽  
pp. 445-448 ◽  
Author(s):  
Andreea Liana Rachisan ◽  
Alexandru Stefan Niculae ◽  
Ioana Tintea ◽  
Bianca Pop ◽  
Mariela Militaru ◽  
...  

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management.


Author(s):  
◽  
Rebecca Schira ◽  
Samantha Alexander ◽  
Noelani Brisbane ◽  
Kaitlyn Williams
Keyword(s):  

Author(s):  
Decerie Mendoza ◽  
Tracy Ye ◽  
Martina Dualan ◽  
Elena Javier
Keyword(s):  

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