Angelman syndrome

Angelman syndrome is called a pathology that is caused by genetic factors and causes damage to the nervous system. Among the symptoms that this produces, we can mention the delay in psychomotor development, epileptic seizures, limited or total lack of linguistic ability, very low or no communicative receptivity, little motor coordination, alterations in balance and movement. In addition to this, the patient is easily excitable, with hypermotricity, and an apparent state of constant joy, with laughter and smiles at any time and at any time.

According to official figures, this has an estimated incidence of one case for every 15,000 to 30,000 children born. Despite being a congenital pathology, it is most commonly diagnosed between 6 and 12 months of age, since it is during this time that developmental problems are first noticed in most patients.

The syndrome was described in 1965 for the first time, thanks to the English-born pediatrician Harry Angelman, who after making observations in three patients who had similar characteristics and that until then no one had described, having the idea that it could be dealing with a new syndrome, he called these children, because of their physical features, “puppet children”. Two years after this, Bower and Jeavons observed that there were others affected by this syndrome and gave it the name “happy puppet syndrome”, a name that was used until 1982, when it was supplanted by Angelman syndrome. honoring Harry Angelman.

For its part, it is important to note that Angelman syndrome involves the UBE3A gene. Genes usually come in pairs, this is because children inherit one from each parent. In most of these cases, both genes are active. This means that the information found in both genes is used by the cells. In the case of the UB3A gene, both parents transmit it, however, only the gene that is transmitted by the mother is active and therefore gives way to the presence of Angelman syndrome.