Since the first description of the Angelman Syndrome in 1965 by Dr. Harry Angelman, Angelman adult world has been the subject of very few studies and we have hardly any information. By exchanging regularly with several families of adults, but also with young Angelman who question the future and development of their children, it seemed interesting to conduct a survey of families having an Angelman of 15 years and more.
From the youngest age as well as lifelong medical and educational monitoring allows one to mitigate certain manifestations of the Angelman Syndrome and to improve the lives of the Angelman. Awareness in the world adults, is to take preventive measures, because this is the youngest age that prepares adults for their Angelman life, but it also help professionals in institutions to better understand our children and therefore give them better support.
We have seen, throughout the investigation, given all the genetic mechanisms to the Angelman Syndrome a clinical picture of significant intellectual impairment, with movement disorders, characteristic behaviors and an important limitation of communication and language. But that, as demonstrated by recent studies, we observed that some clinical differences are correlated with the genotype. And within these different genotypes exist significant gaps.
95% of Angelman within our study have the same behavioral characteristics, and disorders of the motricity (with contractures of the members and scoliosis), sleep and epilepsy continue to be important in the life of the adult Angelman.
To see the survey : Survey Angelman Adult – 2013 France
This observation shows a great disparity in the population of the Angelman Syndrome which must absolutely be taken into account in medical followup, the therapeutic and educational, supported by the guidelines in specialized institutions for french Angelman.
OP - Juin 2013