La sindrome di Angelman: conoscerla per riconoscerla

THE ANGELMAN SYNDROME: KNOWLEDGE FOR RECOGNITION.
There are many stories in medicine about the discovery of illnesses, however many illnesses are rarely talked about owe to their scarsity or low scientific interest. One such case is the Angelman syndrome, a neuro-behaviourism syndrome of genetic origins, which involves all races (in particular etnic groups with the white skinned races) and both sexes with an incidence of 1 out of 10 000 – 12 000 and 1 out of 20.000 – 25.000.The syndrome was discovered and described for the first time in 1965 by Harry Angelman (1915-1996) a paediatrician working in Warrington U.S.A.
Many doctors who work in the field of mental deficiency give little importance to genetic syndromes because they have low prevalence and many are not known well. However understanding these syndromes is highly important for people with mental deficiencies for their integration and for other aspects of life. Facial characteristics of people with the Angelman syndrome are less obvious than those of other syndromes, faces are long, eyes-deep set, prominent jaw, large wide mouth, spaces between teeth and the tongue protruding, cheeks-red, hair blond and eyes blue.
The principle characteristics are a serious psycho and mobility deficit, language difficulties, (from inability to limited speaking capacities), problems of balance, slow unco-ordinated movements which are sometimes repetitive and uncontrolled, shaking of the limbs and a posture which is similar to that of a smiling doll’s.
Other common characteristics are: the tendency to laugh in an excessive way, for no specific reason or the presence of a perpetual smile, they are affectionate, have back problems and sometimes crossed eyes. Their heads are often too small for their bodies, they have irregular sleeping patterns and are epileptic. The last two often improve with age. Babies are often smaller than the norm and often have alimentary problems, adults often become obese. Children have typical behaviour/play patterns. They love water are attracted to mirrors, balloons and musical toys. Some times there are cases of licking biting clapping and the putting of objects connected to mental deficits.Cures do not exist but medicines help control the epilepsy, physiotherapy helps correct movement and helps prevent arthritis in the joints. Language , water and music therapies are also useful.
Well structured game programmes have made an encouraging contribution to the psycho educative rehabilitation. Social development is conditioned by the intellectual and communicative abilities, which however have less influence as far as personal autonomy is concerned (dressing, washing, eating) which is usually above the level of a typical two year old. People with the Angelman Syndrome have normal health conditions and a longer life expectations than other people with mental deficiency illnesses.People affected by the Angelman Syndrome rarely acquire a sufficient vocabulary to meet their needs, although their verbal understanding is better. In the last twenty years their ability to communicate has increased thanks to the Alternative Aumentative Communication System. This system helps those with limited abilities to communicate better and consist of many different methods of alternative communication. Its aim is to find a suitable natural or particular means of communication which allows people to express themselves better. Many parents if adequately sustained have able to activate very interesting educational resources. In January 1996 a number of families with children affected by the Angelman Syndrome got together in Castellabate in the province of Salerno and set up the Or.S.A. (the Angelman Syndrome Organisation). A project was born with the aim to create a reference point for all those in Europe who were looking for information about this syndrome. It also aimed at training and updating qualified staff. In conclusion I describe an experience of mine as a carer in a home for seriously disabled people. I hope that some of the ideas that I have presented in my thesis will help to better the understanding of this serious illness.
The knowledge and understanding of various aspects of the Angelman syndrome is important in order to reach a more specific riabilitation programme this having a better quality of life. Finding solutions and new therapies which give these people the dignity to live life as active not passive protagonists, is fundamental. Every child affected by this genitive illness has the right to have a global health / social assistance and to have the best psycho / physical assistance like all other children regardless of how rare and complex are the pathologic conditions. I conclude this work with the hope that the highest attention towards this syndrome will result in the elaboration of research, and diagnostic protocols, and to ever better interventions.