Angelman Syndrome

Angelman Syndrome

Angelman Syndrome is a genetic disorder that causes mental problems. Harry Angelman described the syndrome as children having “flat heads, jerking movements, protruding tongues, and bouts of laughter.” Infants who have Angelman Syndrome seem normal when there born but problems are noticed in the first few months of life. Seizures often occur when the child is between 2 and 3 years old. People with AS have speech impairment is pronounced with very few or no words.

. The NINDS supports and runs research on neurogenetic disorders to figure out techniques to help treat, prevent, and cure Children with AS. To our knowledge there is no cure for AS. AS is found in all races. Angelman Syndrome Foundation knows of 1000 cases in the U.S. and Canada. People diagnosed with Angelman Syndrome have a normal Life expectancy.

The symptoms for AS are having a small head, severe learning disabilities, Characteristic facial appearance and a happy disposition. There is no specific treatment for AS. Medical therapy for seizures is usually needed. Physical and occupational therapies, communication therapy, and behavioral therapies are important to allows the individuals to reach there maximum developmental potential.

Angelman Syndrome is caused by a small deletion of chromosome 15 or paternal disomy from inheriting to copies of chromosome 15 from the father. Another cause is the mutation of the UB3A gene or translocation involving chromosome 15. And an Error in imprinting chromosome 15. Still in some cases the problem has yet to be identified.

A persons lifestyle with AS is quite different from a regular healthy persons. For example, feeding with newborns may require special nipples. Also, physical and occupational therapies are part of an every day life.