What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare genetic disorder that affects the nervous system. It is characterized by severe intellectual and developmental disability, absent or limited speech, sleep disturbances, seizures, and other medical problems. The most common symptom is severe difficulty sleeping.
Symptoms of Angelman Syndrome
The main symptoms of Angelman Syndrome include:
* Severe intellectual and developmental disability
* Limited or absent speech
* Sleep disturbances, such as difficulty falling asleep, frequent night waking, and difficulty staying asleep
* Seizures
* Floppy and unsteady gait
* Abnormal behaviors, such as hand-flapping and laughing
Causes of Angelman Syndrome
The cause of Angelman Syndrome is a mutation in the UBE3A gene, which is located on the maternal chromosome 15. The lack of the UBE3A gene causes the syndrome, but the exact mechanism is still unknown.
Treatment of Angelman Syndrome
Unfortunately, there is no cure for Angelman Syndrome. However, there are treatments that can help manage symptoms and improve quality of life. Treatment options include physical, occupational, and speech therapy, medications, and dietary changes. Additionally, sleep disturbances can be treated with medications and behavioral techniques.