Angelman Syndrome
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Angelman syndrome is a genetic disorder that cause developmental delay and neurological problems. There is sometimes sleep disturbances, seizures, jerky movements, frequent laughter or smiling and usually always happy. The people that have this tend to not use many words, or none at all. Most likely they are very hyper and have little balance. An older term that people use to use would be, happy puppet syndrome, but it is no longer an accepted term.
When people have Angelman syndrome, they appear normal at birth, but in the first couple months they tend to have feeding problems. When they get to 6 to 12 months old they start to have developmental delays. Seizures often begin between 2 to 3 years old. Even as they grow older, people still think of them as little angels because of their youthful, happy appearance.
Those with the syndrome are generally happy people, who enjoy the contact and play with other people. They actually have a desire for personal interaction with others. Sometimes communication can be difficult at first, but after growing with it for a while, they person has a definite character and is able to make themselves known. Most people will only develop about 5-10 words, or sometimes none at all.
Currently there is no cure available. There is a medicine for the seizures called Anti-seizure medication. Also many families use Melatonin to help the people suffering from Angelman Syndrome to be able to have normal sleep patterns. Most individuals that have this syndrome can only sleep for a maximum of 5 hours at one time. Sometimes Mild laxatives are used to encourage regular bowel movements. There also is Physical, Behavior and Communication therapy that people can go to if they please. In Physical therapy, children with Angelman syndrome might be able to walk better or overcome their other movement problems. In Behavior therapy, it can help the children with this disorder to over come the hyperactivity and short attention span. In Communication therapy, they may be able to help develop communication even in sign language and picture communications.
The most common cause of the Angelman syndrome is the problems located on chromosome 15. The problem is when the gene in chromosome 15 is missing or damaged. In a small number of cases, Angelman syndrome is caused when 2 paternal copies of the gene are inherited, instead of one paternal and one maternal copy.
There is some research being done for the Angelman Syndrome. NINDS supports and conducts research on neurogenetic disorders, to find techniques to diagnose, treat, prevent and eventually cure them.
If you suspect that you or someone you known has Angelman Syndrome, they may go to their family doctor to get a blood sample taken and a combination of genetic test such as; Chromosome analysis, FISH, DNA Methylation test and Sequencing of the UBE3A gene. From then, their doctor may diagnosis