YPIE Scientist: Sean

Research: The Effect of Gender on the Diagnosis of Lennox-Gastaut Syndrome

Mentor: Dr. Jacqueline Gofshteyn

Awards: Creative Approaches to Research WESEF 2021


Epilepsy is a neurological disorder that affects about 65,000,000 people, worldwide, and about 3,400,000 people, nationwide (Shafer, Patty O. and Sirven, Joseph I., 2019). There are a total of 11 syndromes associated with epilepsy (Kiriakopoulos et al., 2017), and Lennox-Gastaut Syndrome (LGS) is one of them. LGS is most commonly misdiagnosed and is found more in females than males with the male to female ratio of 1.3-1.6 (Verrotti et al, 2018). With females being more commonly diagnosed with a misdiagnosed syndrome, it can be hypothesized that females may be more prone to misdiagnosis of Lennox-Gastaut Syndrome; however, it has yet to be scientifically proven. With this, it was also hypothesized that genetics played a role in the diagnosis of LGS. The overall intention of this research is to clarify whether females are more prevalently diagnosed with LGS, and if so, why. Through the analysis of IRB-approved patient charts, a RedCaps dataset was created in order to compare gender to misdiagnosis of LGS. With a sample size of 16 (8 males and 8 females), four females appeared to be misdiagnosed while the other four were not; however, seven males showed as not misdiagnosed while only one male was misdiagnosed. The results of this research support both hypotheses; males were shown to be predominantly correctly diagnosed, and females were found to have a chromosome three mutation, along with males having a trisomy mutation. These genetic mutations support the hypothesis that genetics play a role in the diagnosis of LGS.

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