Angelman syndrome is a genetic disorder that affects the nervous system, causing developmental delays, movement disorders, and short attention spans. There is no cure, but supportive therapies can help patients live a happy life. The condition is caused by a deletion of genetic material on chromosome 15 and is not hereditary. It is named after Dr. Harry Angelman and is also known as Happy Puppet syndrome, although this term is considered offensive. With support, patients can learn to communicate and live a full life.
Angelman syndrome (AS) is a genetic disorder that affects the nervous system. Patients can experience a variety of symptoms, ranging from seizures to profound developmental delays. Because Angelman syndrome is genetic in nature, there is no cure, with treatment focusing on supportive therapies that help the patient live a happy and healthy life. Typically, people with Angelman syndrome require lifelong care, although they can gain some independence with supportive help.
This condition is caused by a deletion of the genetic material on chromosome 15. As a general rule, Angelman syndrome is not hereditary; the deletion is caused by random chromosomal abnormalities. While it is potentially possible for the chromosomal deletion to be passed on between generations, this is quite rare. Unless parents specifically check for such elimination when requesting prenatal testing, they may not be aware that the child has Angelman syndrome until developmental delays begin to be observed.
Several features are universal for all AS patients. They experience profound developmental delays, along with movement disorders that make it difficult to walk and perform fine motor tasks. Angelman syndrome causes people to have very short attention spans and personalities that seem unusually happy. The frequent laughing and smiling in people with Angelman syndrome is thought to be the result of excessive motor responses.
Some patients also experience seizures, trouble sleeping, difficulty sleeping, and microcephaly, a condition that causes the head to be unusually small. Many also have hypopigmentation, making them 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 after 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 considered offensive, although 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 caregivers, someone with Angelman syndrome can learn the rudiments of communication and may be able to live a full, rich, and happy life surrounded by caring family and friends.
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