Angelman syndrome is a kind of neuro-genetic disorder that is characterised by jerk and unsteady movements and severe difficulty in learning. This syndrome usually manifests itself during the early years of the child. The syndrome has got is name from its discoverer Dr. Harry Angelman. This syndrome, which was discovered by him in 1965, is an example of genetic imprinting. Angelman syndrome is caused by the inactivation or the deletion of the critical genes of the chromosomes inherited from the maternal side. Earlier this syndrome was known as happy puppet syndrome. The term being considered as derogatory is longer used.
The Angelman syndrome, a chromosomal disorder, is caused because of a gene’s absence. Researches have shown that around 75% of people having this syndrome have same kind of genetic fault. The genetic fault occurs due to deletion of certain genes from the chromosome-15 that is inherited from the mother’s side. The syndrome may also be caused due to mutation of the UBE3A gene. Apart from that the syndrome may also be caused due to translocation of the chromosome -15.
There are different symptoms of Angelman syndrome. 75% of infants suffering from this syndrome have feeding problems. They suffer from delay in walking and sitting. These infants have problems of little and no speech even when they reach their toddler years. The attention span of these infants is poor. Besides, they suffer from hyperactivity. As and when these infants grow up and reach their pre school years they have severe difficulty in learning. At times they might also suffer from epilepsy. Another symptom is of frequent laughter. These infants make unusual movements like jerking movements, fine tremors, hand flipping, etc all of which are characteristic symptoms which are associated with this syndrome. The infants suffering from Angelman syndrome mostly have small head that is flattened at the back. Some of these infants have characteristic facial appearance like wide mouth, prominent chin, widely spaced teeth, etc. These infants also suffer from poor sleep. Other symptoms include sensitivity to heat, attraction to water, abnormal spine curvature, crossed eyes, etc.
The Angelman Syndromedoes not have any cure. This is because it is a kind of genetic disorder and not illness. There are some anticonvulsant medicines that help in controlling epilepsy. However, it is not easy to ascertain the type and dosage of the anticonvulsant medicines. This is because this syndrome is associated with different other seizures in comparison to normal epilepsy. In many cases melatonin is given to promote sleep. This however in the long run affects the pattern of sleep in people suffering from this disease. People suffering from this syndrome, in many cases do not sleep more than 5 hours. Mild laxatives are prescribed for normal bowel movement. Besides, physiotherapy is prescribed to prevent the joints from getting stiff. Speech therapy is done in order to overcome the problem of speech. The other treatments of this syndrome include occupational therapy, music therapy, hydrotherapy, etc.
It is advised by physicians to take help of different therapies to overcome the different problems faced by children suffering from Angelman Syndrome. Physical therapy is often used to help the children suffering from Angelman Syndrometo walk better. This therapy also helps to overcome the different problems regarding movement. The communication therapy is of great help to the children suffering from this syndrome to communicate with people. This therapy helps the children by using different sign languages. Behavioural therapy is used to help these children to overcome hyperactivity. It also helps to overcome problem regarding attention span.
