What is it all about? Angelman syndrome (AS) is a rare genetic condition first described by Harry Angelman, a paediatric physician working in the north of England. In 1950, he became consultant paediatrician to the Warrington group of hospitals where the story of AS began to unfold.In the early 1960?s, Dr Angelman had under his care three children who all had a similar pattern of developmental problems. Although their disabilities differed, he felt there was a common cause. They all had a stiff, jerky gait, absent speech, excessive laughter and seizures. The diagnosis was purely clinical because, despite technical investigations, which today are more refined, he was unable to establish scientific proof that the children were suffering from the same condition. In view of this, he hesitated to write about them in the medical journals. However, Whilst on holiday in Italy Dr Angelman happened to see an oil painting at the castelvecchio Museum in Verona entitled ?A boy with a puppet? the boys laughing face and the fact that his patients exhibited jerky movements gave him the idea of writing an article about the three children with the title ?puppet children?. It was not a name that pleased all parents, but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome. AS can be caused by a variety of different genetic abnormalities. They all involve chromosome 15, but different genetic tests must be used to detect the specific abnormality. AS results from a missing piece of the maternally inherited chromosome 15. There are different ways in which this can occur. One way is that both copies of chromosome 15 come from the father?s side and so the maternal chromosome is effectively missing. This is called uni parental disomy (UPD) and accounts for around 5% of cases. This is where I fit into the AS picture. There are also other forms known as deletion and an imprinting defect (mosaic).The clinical characteristics for AS are as follows, consistent (100%) developmental delay, speech impairment with none or minimal use of words; receptive and non ? verbal communication skills higher than verbal ones. They have an apparent happy demeanour with frequent laughter and an easily excitable personality. They often display an excitable personality with hand flapping movements. There is movement or balance disorder with usually ataxia (poor coordination).Frequent (more than 80%) there is delayed, disproportionate growth in head circumference usually resulting in microcephaly by age 2. Seizures usually before 3 years of age. Some associated characteristics (20-80%) include, flat occiput (back of the head), protruding tongue with wide spaced teeth, frequent drooling, strabismus (squint), sleep disturbance and uplifted flexed arm position during walking.A diagnosis of Angelman syndrome is a life changing one but it should not prevent you from achieving everything you want to, you just may have to move the goal posts a little!
The Scientific bit
build your own website