What is Angelman Syndrome?
Angelman syndrome (AS) is a rare neurodevelopmental genetic disorder that affects approximately 1 in 15,000 people. AS primarily affects the nervous system and affected individuals typically have recurrent seizures, balance and coordination issues, developmental delay/intellectual disability and sleep disturbance. AS is commonly diagnosed in the first year of life. Developmental delays, which are often present by the age of 6 months, are usually the first signs. Seizures may begin between the ages of 2 and 3 years old.
Symptoms
Angelman syndrome can cause a variety of symptoms, which can vary from person to person. Symptoms include:
- Ataxia
- Delayed development
- Intellectual disability
- Gastrointestinal issues and feeding problems
- Problems with movement and balance
- Jerky body movements
- Severe speech impairments with little to no expressive speech
- Hyperactivity
- Seizures
- Trouble sleeping
- Happy, excitable personalities
Treatment
While there are no specific treatments that can reverse the symptoms of AS, various treatments can improve a patients’ quality of life. The Angelman Syndrome Clinic at Kennedy Krieger Institute uses evidence-based guidelines and standard-of-care practices to address symptoms such as intractable seizures, movement and balance issues, sleep disturbances and gastrointestinal difficulties. Learn more about these treatment options by visiting our Angelman Syndrome Clinic page.