Angelman syndrome or Angelman syndrome is a complex genetic disorder from birth that affects the nervous system.
This syndrome makes children will experience developmental delays as well as psychomotor maturation, especially in terms of intellectual intelligence.
Based on information Angelman Syndrome Foundation, This condition is caused by a malfunction of a gene called UBE3A in the 15th chromosome.
The chromosomes come from the mother’s side and the process of occurrence is 1 in 15,000 people. Currently there are an estimated 500,000 sufferers in the world.
Babies born with this syndrome, often experience development-related disorders in terms of speech and also experience disorders related to movement in terms of balance or commonly known as ataxia.
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Condition Angel syndrome can occur in babies from birth
Angelman syndrome can be present from birth. There are several signs that are usually experienced by babies born with this syndrome. Babies who experience it appear normal at birth.
However, babies born with this syndrome generally have problems when they don’t drink breast milk.
When babies start to eat, parents may struggle because they have difficulty eating in the first few months after birth.
Then as they get older, babies with this syndrome will experience physical disturbances.
For normal babies, generally when they have entered 6-12 months, this is the phase for babies to crawl, babies to sit, or babies to stand up.
But for babies with Angelman Syndrome, it will experience delays in development. In addition, this syndrome also makes it difficult for children to sleep well.
What are the symptoms in people with Angelman Syndrome?
Symptoms in children who have Angelman syndrome Of course they can’t be compared. In general, a child who is experiencing it will look quite rarely talk.
There are even some who do not speak at all, tend to find it difficult to balance themselves or experience ataxia, often seen smiling and also laughing which makes him look happy
At first glance his behavior looks quite enthusiastic, although sometimes he can convulse, his legs are stiff, mostly moving or hyperactive.
If you look more closely, the other physical forms are also not common. The size of the head circumference is small, the tongue seems to stick out slightly, and some sufferers also have unusual tooth shapes.
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Much research is still being done on the real cause
In this world, Angelman syndrome may be a rare disease.
To this day, most researchers still have not found a definite answer to what are the factors that trigger changes or genetic mutations that then cause this syndrome.
In some conditions, people who experience it can get several complications such as; eating disorders, difficulty swallowing.
In addition, there are several other things that can also trigger complications, such as hyperactivity, scoliosis, to sleep disorders.
For such occurrences, doctors usually recommend several things to relieve the symptoms.
One of the anticipations for babies is foods with high-calorie formulas to help increase the baby’s weight.
There is no cure yet, but there are several therapies to relieve it
To deal with Angelman syndrome can be done according to the symptoms that occur in the sufferer. Until now, there is still no cure for the most efficacious and believed to be able to cure permanently.
That’s why, the new treatment focuses on rehabilitation. The purpose of rehabilitation is to relieve symptoms or disturbances in the growth and development of the sufferer.
Some drugs are only given to treat seizures.
There are several examples of therapy that can be done to help the sufferer, for example; therapy riding, swimming, or playing music. In addition, the sufferer can do several other things, for example;
- Do some communication therapy so that his nonverbal skills develop
- Practice sign language
- Conduct behavioral therapy to overcome hyperactivity.
That’s a brief review of Angelman Syndrome, a rare disease that makes sufferers seem happy even though there is no best cure for it yet.