Jonathan Juste04/21/14Hm. Bioanalysis of Angelman SyndromeIn 1965, Dr. Harry Angelman, an English physician, first described three children with features now known as Angelman syndrome. Angelman syndrome is a neurogenetic disorder that is usually diagnosed at a very young age and occurs in 1 in 15,000 births. Angelman syndrome has symptoms that can easily be confused with cerebral palsy or autism. Symptoms of the disorder include developmental delay, slurred speech, seizures, trouble walking and balancing, trouble sleeping, hyperactivity, and frequent laughing or smiling. If a baby or child is diagnosed with Angelman syndrome, they will need lifelong care as there is no cure. Because of its similarities to autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Diagnostic errors are a widespread problem today that can also lead to late diagnoses. When this happens, lost time can cause affected individuals to miss opportunities for early intervention programs, life-changing treatments, resources, and personalized personal support. So how do you know if your child has Angelman's? Usually, people with Angelman syndrome appear normal at birth. As we should all know by now, we each have two number 15 chromosomes, one inherited from our mother and father. The Angelman syndrome gene (UBE3A) is located on chromosome 15, band q12, as shown. In the brain, the Angelman gene is primarily expressed from maternally inherited chromosome 15. There are four known genetic mechanisms that cause Angelman syndrome. The most common way to get Angelman syndrome is through a chromosomal deletion. This is responsible for approximately 68% of all cases of ...... middle of paper ......t behavior and abnormal physical movements. Despite the positive outlook, it must be remembered that seizures have adverse consequences on a person's health and that although in most cases the brain is able to withstand the problems of seizures without any neurodegeneration events or no morphological change; People with AS should expect their life expectancy to decrease by 10 to 15 years. That being said, this still gives anyone affected a maximum of 65-70 years if treated properly, which can be considered a good thing since there are other disorders that can do much more damage. In summary, Angelman syndrome is a rarity, and researchers are working very diligently to get more information about how it works, treatment options, and also a possible cure. Until then, children and adults will continue to rely on treatments and therapies to deal with symptoms..