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Angelman syndrome in childhood

Angelman syndrome in childhood


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Angelman syndrome is a rare disease, the main physical characteristic of which may be an almost permanent smile, which gives these children a happy appearance. This is precisely why they have been called puppet children.

Considered a rare disease, Angelman syndrome it is a neurodevelopmental disorder that affects 1 in 10,000 to 20,000 children born.

Its cause is genetic, and in most cases it is not hereditary, that is, it occurs randomly. It is because there is a failure in the functioning of a gene (UBE3A), on maternal chromosome 15. That is, these children, instead of having both chromosomes 15, one from the father and the other from 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.

1. There is significant mental retardation, which implies that these people cannot be autonomous. That is, they need, in the vast majority of cases, help to eat, wash, dress, move ... and in no case can they live independently. If they were passed an intelligence test, it would be equivalent about 3 years old, or less.

2. They have difficulties in their movements, tremors, a rocking, unsteady, clumsy walk. They tend to raise their hands when walking, as if flapping their wings. His fine motor skills are also affected.

3. A high percentage of them suffer from different types of epilepsy, which are not always easily controlled.

4. Sleep is disturbed, 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 living together at home.

5. They have a hyperactive behavior and are very easily excitable, with very short attention spans.

6. His personality is affable, affectionate, smiling and easy to laugh. Their laughter is very contagious and makes those who are with them unable to avoid their own. Dropping a glass of water, for example, can be the funniest thing in the world.

7. Almost total absence of speech. There are children who can say some words, but in no case is it the main system of communication. These children need to communicate with gestures, signs or images, which make up for the absence of words. And this has to be taught from a young age. There is a great difficulty to communicate, with autistic traits, which makes learning alternative communication systems (with signs or images) even more complex.

This syndrome it has no cure todayBut there is a lot of research going on, some of it very promising. Although it is a rare disease, and as such it would not normally be investigated, the advantage of Angelman syndrome is that there is only one affected gene. 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.

You can read more articles similar to Angelman syndrome in childhood, in the category of Childhood Diseases on site.


Video: Our Daughters RARE DIAGNOSIS - Angelman Syndrome (June 2022).


Comments:

  1. Einhard

    Hardly I can believe that.

  2. Matlalihuitl

    It is scandal!

  3. Voodoojar

    Thank you thank you

  4. Hadrian

    Willingly I accept. The theme is interesting, I will take part in discussion.

  5. Waquini

    The man has got!



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