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Rett Syndrome (RTT) is a severe Autism Spectrum disorder affecting one in ten thousand females. Seizures are a common symptom associated with RTT, as up to eighty percent of individuals with RTT have seizures. Most of these individuals are treated for these seizures with antiepileptic drugs (AEDs). However, AEDs are not very effective for treating seizures in all cases, have many side effects such as increasing the risk of vitamin D deficiency for individuals with RTT and do not help with any other symptoms associated with RTT. Because of these problems associated with AEDs, two additional treatments to treat seizures in individuals with RTT are proposed from analyzing and synthesizing the results and conclusions of relevant research articles. A diagnostic tool to identify the effectiveness of the two additional treatments mentioned was created and utilized.
RTT is caused by a mutated methyl CpG binding protein 2 (MeCP2) gene, which produces the MeCP2 protein. The MeCP2 protein regulates the brain-derived neurotrophic factor (BDNF) gene and hence the BDNF protein, which also plays a role in RTT. The mutation in the MeCP2 gene results in decreased amounts of the MeCP2 protein and hence decreased amounts of the BDNF protein in the brains of individuals with Ret Syndrome. Increasing the amount of BDNF present in the brain and increasing the amount of MeCP2 present in the brain can be more effective for treating seizures in individuals with RTT. These two proposed treatments can potentially be given to individuals with RTT before symptoms such as seizures appear and help halt these symptoms from occurring. By using different treatment options or by developing treatments that can potentially halt the symptoms from becoming present can be extremely beneficial to individuals with RTT who also experience seizures.
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