Angelman Syndrome (AS) is a genetic disorder which affects the nervous system. Patients can manifest a variety of symptoms, ranging from seizures to profound developmental delays. Because Angelman Syndrome is genetic in nature, there is no cure, with treatment focused on supportive therapies which help the patient to live a healthy and happy life. Typically, people with Angelman Syndrome require care throughout their lives, although they may gain some measure of independence with supportive help.
This condition is caused by a deletion of genetic material on chromosome 15. As a general rule, Angelman Syndrome is not inherited; the deletion is caused by random chromosomal abnormalities. While it is potentially possible for the chromosome deletion to be passed between generations, this is fairly rare. Unless parents specifically test for that deletion when they request prenatal testing, they may be unaware that the child has Angelman Syndrome until developmental delays begin to be observed.
Several characteristics are universal to all AS patients. They experience profound developmental delays, along with movement disorders which make it difficult to walk and perform fine motor tasks. Angelman Syndrome also causes people to have very short attention spans, and personalities which seem unusually happy. The frequent laughter and smiles in people with Angelman Syndrome are believed to be the result of excessive motor responses.
Some patients also experience seizures, sleep disorders, difficulty sleeping, and microcephaly, a condition which causes the head to be unusually small. Many also have hypopigmentation, which causes them to be very pale, with light hair and eyes. The combined symptoms associated with Angelman Syndrome can make it very difficult for patients to navigate the outside world, as they struggle to communicate and understand the events around them.
Angelman Syndrome is named for Dr. Harry Angelman, an English physician who first described the condition in 1965. It is also known as Happy Puppet Syndrome. However, this term for the condition is generally deemed offensive, though it may be an accurate description of what an Angelman patient looks like, at first glance. With focused support from therapists, medical professionals, parents, and assistants, someone with Angelman Syndrome can learn the rudiments of communication, and he or she may be able to live a full, rich, happy life surrounded by caring family members and friends.
