Angelman syndrome is called a pathology that is caused by genetic factors and that causes damage to the nervous system. Among the symptoms that this produces can be mentioned the delay in psychomotor development, epileptic seizures, limited or total lack of linguistic ability, very low or no communication receptivity, poor motor coordination, alterations in balance and movement. In addition, the patient is easily excitable, with hypermotricity, and an apparent state of constant joy, with laughter and smiles at any time and 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 presented similar characteristics and that no one had described until then, having the idea that it could be dealing with a new syndrome, he called these children, because of their physical features, as "puppet children." Two years after this, Bower and Jeavons observed that there were others affected by this syndrome and gave it the name of "happy puppet syndrome", a name that was used until 1982, when it was supplanted by Angelman syndrome. doing honor to 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 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 leads to the presence of Angelman syndrome.
