Angelman syndrome is a rare disease, whose main physical characteristic may be an almost permanent smile , which gives these children a happy appearance. Precisely for this reason they have been called marionette children (puppet children). Considered a rare disease, Angelman syndrome is a neurodeve
Angelman syndrome is a rare disease, whose main physical characteristic may be an almost permanent smile, which gives these children a happy appearance. Precisely for this reason they have been called marionette children (puppet children).
Considered a rare disease, Angelman syndrome is a neurodevelopmental disorder that affects 1 in 10,000 or 20,000 children born.
Causes of Angelman syndrome
Its cause is genetic, and in most cases it is not hereditary, that is, it occurs randomly. It is because there is a malfunction of a gene (UBE3A), maternal chromosome 15. That is, these children, instead of having both chromosomes 15, one of the father and another of the mother, have a total or partial absence of the maternal chromosome 15, which is where this gene is located. Lately it has been discovered that this gene (UBE3A) is the one that causes the syndrome. Características 7 characteristics of the Happy Child Syndrome
1. There is a significant mental retardation, which implies that these people can not be autonomous. That is, they need, in the vast majority of cases, help to eat, clean themselves, get dressed, move ... and in no case can they live independently. If they passed an intelligence test, it would be equivalent to about 3 years of age, or less.
2. They have difficulties in their movements, tremors, an oscillating, unsteady, awkward walk. They usually hold their hands up when walking, as if they were fluttering. Your fine motor skills are also affected. En 3. In a high percentage suffer different types of epilepsy, which are not always easily controlled. El 4. The dream is altered, which means that there are children who can sleep only 3 hours. This is a very serious problem, both for the development of the child and for coexistence at home. 5. They have an overactive behavior and are very easily excitable, with very short attention times.6. His personality is affable, affectionate, smiling and very easily for laughter. Their laughter is very contagious and makes those who are with them can not avoid their own. Falling a glass of water, for example, may be the funniest thing in the world.
7. Absence almost total speech.
There are children who can say a few words, but in no case is it the main communication system. These children need to communicate with gestures, signs or images, which suppose the absence of words. And this must be taught to them from a young age. There is a big difficulty to communicate, with autistic features, which makes the learning of alternative communication systems (with signs or images) even more complex.
Healing hopes in children with Angelman syndrome
has no cure today
, but there is a lot of research going on, some of them very promising. Although it is a rare disease, and as such the usual thing would be that it was not the subject of research, the advantage of Angelman syndrome is that there is a single gene affected. And it seems that this gene is related to other diseases or disorders, such as Parkinson's or Autism Spectrum Disorder. So there are several laboratories and universities around the world investigating different modes of treatment.