Angelman Syndrome (AS) is a rare neurological disorder that affects the nervous system. It is considered to be part of the autism spectrum, although it is often seen as a separate condition. Characteristics of AS include developmental disabilities, seizures, and speech and motor delays. People with AS may also have physical characteristics such as small head size, protruding tongue, and atypical gait.
Symptoms of Angelman Syndrome
Angelman Syndrome is characterized by a wide range of symptoms, including:
* Developmental delays, including delayed motor skills, speech, and language
* Seizures
* Hyperactivity
* Unusual behaviors, such as jerky movements and hand flapping
* Sleep disturbances
* Small head size
* Protruding tongue
* Ataxia (inability to coordinate movements)
* Unusual facial features, such as a wide mouth and a flat back of the head
Diagnosis of Angelman Syndrome
Angelman Syndrome is usually diagnosed during a physical examination and medical history review. To confirm the diagnosis, genetic testing may be done to look for changes in the UBE3A gene. Other tests, such as an electroencephalogram (EEG) or magnetic resonance imaging (MRI), may also be used to help diagnose AS.
Treatment of Angelman Syndrome
Currently, there is no cure for Angelman Syndrome. However, there are several treatments that can help manage the symptoms and improve the quality of life for those affected. These treatments may include physical, occupational, and speech therapy; medications to control seizures; and nutritional supplementation.