Research: The Effect of Gender on the Diagnosis of Lennox-Gastaut Syndrome
Awards: Creative Approaches to Research WESEF 2021
Mentors: Dr. Jacqueline Gofshteyn and Dr. Steven Wolf
Research Location: Weill Cornell Medical Center
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, Elaine and Shafer, Patty O., 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, Alberto 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.
About this Scientist:
Sean Vargas-Arcia is a senior at Yonkers High School who has committed to Temple University with a major in Cellular and Molecular Neuroscience. Born with epilepsy, Sean underwent two brain surgeries in January and February of 2020 and has been seizure-free since; however, he states that his drive for neuroscience research is heavily influenced by his desire "to reduce the amount of children who have to call the hospital their home." Sean plans on receiving his B.S., M.D., and PhD in neuroscience to become a molecular neuroscientist and clinical neurosurgeon, eventually finding a permanent cure for each type of epilepsy.