Angelman Syndrome
Description:
Angelman Syndrome is a genetic disease caused by a deletion of chromosome 15. Males and females are equally affected by this. Someone affected by this disorder will suffer from frequent laughter and/or smiling, seizures, hyperactivity, difficulties with speech and balance disorder. There are abnormalities in their humor processing pathway in their brain which makes them have an easily excitable personality. Less than 25% will develop seizures before 12 months of age. Most have seizures before 3 years of age. Though, it’s hard to tell whether they are having a seizure since their regular behavior (flapping/jerking of limbs) is similar to the movements. Conversational speech doesn’t develop. It is noted that they have sensitivity to temperature. In a warm room they will start to have warm skin, and increased irritability and hyperactivity.

Inheritance:
This disease can be inherited from either parent. It is caused by a chromosomal rearrangement. A person with Angelman Syndrome inherits 2 copies of chromosome 15 from their father instead of one from each parent. Though, it is rare that this disorder is inherited; most of the time, it is a mutation, which is when a disorder is not caused by the parents. Neither parent is a carrier (has a trait for the disorder, but does not have it themselves) or has the disease.


Symptoms:
With Angelman Syndrome, there is a development delay and a lack of speech. They have seizures, walking and balance disorders, mental retardation, frequent smile/laughter and trembling motions in arms and legs. It is noticed that they have a lack of crawling and babbling during 6-12 months of age. They also have sleep problems. There isn’t need for as much sleep as people in their age group.

Daily Life:


Diagnosis:
This disease is usually diagnosed as autism because its symptoms are so similar to Angelman Syndrome. (Ex. Lack of expressive language, hand motions/flapping) During infancy, Angelman Syndrome is usually not noticeable since you can’t tell if there are developmental delays. Though, if someone has frequent laughter, happy disposition, better non-verbal communication skills than verbal skills, developmental delays, balance disorders and flapping movements they have Angelman Syndrome.


Treatment:
There is no cure for Angelman Syndrome. Though, patients can take anticonvulsant for seizures. They can go take physiotherapy for joint mobility, speech therapy, occupational therapy, behavior modification and music therapy can help.


Research:

Additional Facts:
The chance of getting this disorder is 1 out of 15,000. Angelman Syndrome is named after Dr.Harry Angelman who discovered the disease after seeing 3 patients said to be suffering from three different disorders. He thought there was a connection between the three children, like how they had frequent laughter and smiled. A nickname of Angelman Syndrome, “Puppet Children,” is inspired by a painting Dr.Angelman saw of a child holding a puppet (also a picture of a child with drawing) because they were illustrated with the same smile that patients would have with the disorder

Pedigree Chart:
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Pictures:
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Resources:
Information on Angelman Syndrome can be found on these websites.

http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/

http://ghr.nlm.nih.gov/condition/angelman-syndrome

http://www.mayoclinic.com/health/angelman-syndrome/DS01048/DSECTION=symptoms

http://www.childrenshospital.org/az/Site2066/mainpageS2066P1.html