Angelman syndrome symptoms

What exactly is Angelman syndrome and how does it manifest?

This condition that has a very unusual name is a type of genetic neurological disorder, which is very rare. It manifests through developmental and intellectual delays and disabilities, as well as through various neurological problems, starting from those related to speaking and walking, to those that cause seizures. Still, it does not necessarily mean that the symptoms will be noticeable at birth, because it is not uncommon that the parents detect that something is wrong when their child is 6 months old or even younger.

Regarding the symptoms, those that may be present are trembling movements of extremities, which affects the ability to move and maintain balance, lack of even minimal speech, small size of the head, strabismus, thrusting of tongue. These people smile or laugh very often, and they have a happy personality. As for the seizures, they tend to begin when the child turns two or three years. What the parents may also notice is the lack of babbling in their babies, as well as lack of crawling in the period when it is expected.

The most frequent cause of Angelman syndrome is related to a problem with a particular chromosome. However, the fact is that the science still has not discovered the cause of this genetic disorder, and thus it cannot be predicted who is at higher risk of having a child with this syndrome, particularly when it is well known that the greatest majority of those who suffer from it do not have the family history of this condition .

How to deal with Angelman syndrome and can it be treated?

Every parent will surely take the child to the doctor as soon as the symptoms that indicate something is not right appear, and if the doctor suspects that this disorder might be the reason, some genetic tests will have to be performed. They are done on the blood sample of the child and they examine the chromosomes, or more precisely, they examine whether their shape, size, and number are correct.

Since this disorder is genetic, it means that there is no cure for it. The treatment is usually focused on keeping the seizures under control, and on physical, communicational and behavior therapy, which are supposed to help a child overcome problems with movement, verbal and nonverbal skills, but it is also very beneficial for the parents, other family members and friends, since it is not at all easy to deal with this condition.