Angelman Syndrome , Causes, Symptoms And Treatment

With the recent advancement in medical science, there have been a lot of genetic diseases which have come to the notice of doctors and health experts. Out of these, a genetic disorder caused due to certain faults in the chromosome 15 is the Angelman Syndrome. Scientists and researchers have suggested a lot of different methods to help cure this disease, but till now, there are no cures backed by concrete proofs and results. The Angelman Syndrome is known to induce jerky movements as well as a sunny outlook in a person. This is why it is known as the “Happy Puppet” disease. This was renamed after the researcher Henry Angelman, who was credited with understanding and asserting the symptoms associated with this genetic disorder.

Owing to the developmental problems linked to the genetic structure being non evident during the initial years, the Angelman Syndrome is not detected or confirmed at the time of birth or even infancy. The age of three years to seven years is the most common age when most children start to show clear symptoms of the disorder. Even on this, the Angelman Syndrome is not a very well understood disorder and this is the main reason why the disorder can be confirmed only when the parents read about it or see it in some other child likewise, with their own eyes. A lot of symptoms can be attributed to the Angelman Syndrome in children who have it. The sad part is that most of these symptoms lie dormant for a long period of time, and only appear at a certain age, making the detection of the Angelman Syndrome a difficult task.

Scientists and medical researchers confirm certain symptoms which can be attributed to the syndrome in almost all patients. These may include jerky motions, irregular movement of the body, impairment of speech, hyperactive behaviors in children. Apart from the general and more or less omnipresent set of symptoms, there are also other symptoms, which might not strike you at the very first sight. These may include abnormalities in the EEG, unusual development and growth of the head of the child, seizures and many others. All these symptoms surface before the age of three years in children suffering from the disease.

Since no solid ways to prevent or stop this disease have been found, there are no consolidated methods to cure or prevent that genetic disease. Most curative and preventive measures aim at solving the problem at hand and assisting balance and gait. This is done through the use of adaptive devices as well as physical therapy. Evaluating language and proper speaking abilities is important at an early age, which can help in making the condition of the child much better. A lot of information, help and support can be sought from the various societies and support groups by the parents of children suffering from the disorder.


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