Children with Angelman Syndrome typically have a happy, carefree demeanor.
Patients with Angelman have the disease throughout their teenage years and the rest of their lives.
Angelman first becomes recognizable during the infant years.
Angelman was first discovered in 1965 by a British doctor named Harry Angelman.
Symptoms of AS include small head size, developmental and intellectual delay, insomnia, seizures, and speech problems.
Angelman occurs when the UBE3A is absent or defunctive.
Fortunately, Angelman Syndrome is not a fatal disease, and one with AS has a normal lifespan, give or take a few years.
Angelman Syndrome affects about 1 in 12000 to 20000 individuals. One of the most famous examples of AS is James Farrell, son of Irish actor Colin Farrell.
This video contains Tanya O'Rourke interviewing a girl with AS and her mother. Angelman Syndrome Walk on May 17.
This Video displays a young three-year-old boy with AS. A relatively little known disorder known as Angelman Syndrome is drawing focus in the medical world.
Angelman Syndrome (AS) is a complex neurological genetic disorder that affects the nervous system. This disease first becomes notable in the stages of early infancy. AS affects about 1 in every 12000 to 20000 births and is most commonly found in Caucasians. Thankfully, this disease, although life-altering and severe, has no fatal symptoms.
Angelman Syndrome has a long list of complex symptoms and effects, each changing one's life in a different way. Everyone born with AS has developmental and intellectual delays, speech and balance problems, and an excitable, happy demeanor. Around 80% have seizures prior to their third birthdays, plus unusually small head size. Finally, about 20% have hypo pigmented skin, insomnia, and heat sensitivity.
Unfortunately, Scientists have currently not found a cure to Angelman Syndrome. However, many of the individual symptoms can be treated. The seizures can be taken care of with the use of medication, as can the insomnia. Extensive therapy, both physical and mental, can help along some of the developmental delays. As a whole, people with Angelman are generally happy and comfortable, so a cure is not as high priority when compared to other major diseases. Perhaps scientists would put more effort into finding a solution if the disorder was fatal. <br />
Angelman Syndrome can be inherited in a couple of different ways. It most commonly occurs When the UBE3A gene is damaged or defunctive. A less common explanation is that the baby received two chromosome 15s from the father. Either way, the chance of your child having AS is 1 in many thousands, so there is no cause for worry.