Angelman Syndrome

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by mh2002
Last updated 6 years ago

Health & Fitness

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Angelman Syndrome

Angelman Syndrome

Prenatal tests for AS include DNA, missing chromosomes, and gene mutation tests. To help the child in the future when he/she is older, the children and adults take have several different therapists for many developmental problems. People with Angelman Syndrome can not have children of their own. There is no cure for Angelman Syndrome and scientists are just focusing on treatment for children and adults with AS right now. Such as the medication and therapies that the child/adult has to go through all their life. Children and adults with Angelman Syndrome most of the time live a normal lifespan as any other person would, but will have to live with AS until they find a cure for Angelman Syndrome.

Angelman Syndrome affects the nervous system and brain. Angelman Syndrome is caused by a deletion of chromosome 15 other wise known as ubiquitin protein ligase, or UBE3A. Without this chromosome people with Angelman Syndrome lack sleep, it is hard to balance, they have speech impediments. In other cases of Angelman Syndrome it is the loss of OCA2 otherwise known as melanin. Many abinos face the problem of not having the melanin they need to create the darker pigment in your skin that protects you from the sun, and protects your eyes aswell. Angelman Syndrome is a sex - linked trait, and is a deleted copy of UBE3A, and sometimes OCA2.

Angelman Syndrome effects one in 15,000 children and appears in children around 6-12 months of age. This disorder occurs in Western Europe, Sweden, Holland, and England. Angelman Syndrome used to be called "happy puppet" because the people affected with this disorder have a happy demeanor and the actions of a puppet, but is more commonly today reffered to as AS or sometimes nuerodevelopmental disorder.

Symptoms- Flat heads, protruding tongues, light colred hair and skin, lack of melanin, lack of balance, epilepsy. People affected with this disorder have trouble sleeping, walking, talking, and controlling their movements.

There is no cure for Angelman Syndrome but there is treatment. You can have behavioral, physical, and communication therapies. Seizure therapies are usually required with Angelman Syndrome, and seizural medication aswell.


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