What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare genetic disorder that can cause developmental delays, physical impairments, and a unique, happy disposition. It affects 1 in 15,000 people and is caused by a spontaneous mutation or deletion of the UBE3A gene on chromosome 15.
What Are the Characteristics of Angelman Syndrome?
The most distinguishing feature of AS is its unique, happy disposition. People with AS often laugh and smile a lot and are generally very content. They are usually very friendly and approachable, and tend to be more social than other people.
Other common characteristics of AS include:
* Delayed physical development
* Speech impairment
* Hypotonia (low muscle tone)
* Seizures
* Sleep disturbances
* Hyperactive behavior
What Causes Angelman Syndrome?
Angelman Syndrome is caused by a mutation or deletion of the UBE3A gene on chromosome 15. This gene is responsible for producing a protein that is essential for normal brain development. Without this protein, the brain does not develop properly, leading to the characteristics associated with AS.
Why Are Angelman People Always Happy?
The exact cause of why people with AS are generally so happy is not known. Some researchers believe that it is because the mutation or deletion of the UBE3A gene affects the areas of the brain that are responsible for controlling mood and emotions. This could explain why people with AS are usually so content and cheerful.