ANGELMAN SYNDROME

BY ISABELLA

Symptoms

The symptoms of angelman syndrome are having a small head, balance problems, seizures (epilepsy), random smiles and laughter, and it is caused by problems or malfunction in the nervous system.

What causes the disorder?

The disorder is caused by a problem, or a malfunction, in the nervous system, when a part from the chromosome (more specifically UBE3A) is deleted, or isn't present.

What is the long-term outlook for the child?

A person with AS usually lives for the average age span, which is until when they are about 60-75 years old.

How is it inherited?

You do not need to have the disorder in the family history to have it, because it is developed when there is a malfunction during the formation of the reproduction cells, and a part of one of the chromosomes goes missing.

Question

What population is affected?

The chances of having it are 1 in 12,000


Can anyone be a candidate for the disorder?

The chances of getting AS are very low, and it is unlikely, but it depends on if the disorder happens in the egg and sperm cell.


What kind of medical assistance will the affected child need?

The only therapy a child or person with AS can get is usually therapy for epilepsy/seizures.


Will further assistance be needed, as the child grows older?

One of the only treatment that has been found until today is the Epilepsy therapy, for seizures because it is one of the main symptoms for AS.


What is the long-term outlook for the child?

The people affected with angelman’s syndrome usually live an average life span, until about 60-75 years old.


Are there any treatments or cures?

There aren’t any treatments specifically for the disorder, only things like behavioral therapy



Could this disorder have been prevented?

No, it could not, because it is in the chromosomes and the nervous system.


Can this individual have children in the future?

Yes, it does not necessarily affect childbirth.



Will those children be affected?

It is possible that the child could have some of the symptoms from the parent.


What is the current status of research on this disorder?

The research is continuing, but there has not been a cure found yet.



Is there a cure coming soon?

it is unknown if a cure is coming.