What is Autism?

1999 WordsFeb 17, 20188 Pages
Autism is a varied family of disorders, and its prevalence is on the rise. Today, one in 110 children are diagnosed with Autism. Although there are a few drugs available to treat repetitive behaviors and irritability, associated side effects can limit their use. Currently there are no effective treatments for the core symptoms of Autism which often include language and communication shortfalls, intellectual disability, epilepsy, attention deficits, and hyperactivity (Dolan et al. 5671). Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and is universally recognized as the monogenic cause of Autism. The gene responsible for Fragile X Syndrome, FMR1, is located on the long arm of the X chromosome. It contains a CGG repeat sequence in the 5’-untranslated region that, on expansion to greater than 200 repeats, results in gene methylation and transcriptional silencing of the FMR1 gene. The absence of its protein product, fragile X mental retardation protein (FMRP), is responsible for the clinical symptoms and pathologic findings of FXS. In the past few years, a plethora of research has been conducted in regards to Fragile X syndrome. Many scientists are hoping to uncover therapeutic agents that not only address the secondary symptoms, but the root cause of the disease as well. Absence of FMRP had been shown in a recent study to affect rates of brain protein synthesis in awake and functioning animals. In adult FMR1 knockout mice, regional
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