Angelman Syndrome

Angelman syndrome is a rare, complex neurodevelopmental condition that primarily affects your nervous system. It’s caused by issues with a specific gene called UBE3A.

Your nervous system is your body’s command center. Originating from your brain, it controls your movements, thoughts, behaviors and automatic responses to the world around you.

Characteristic features of Angelman syndrome include:

• Developmental delay that’s often noticeable by six to 12 months of age.
• Intellectual disability.
• No speech or very limited speech.
• Issues with movement and balance (ataxia).
• Seizures.

Children with Angelman syndrome typically have a happy, excitable attitude. They frequently smile, laugh and make hand-flapping motions.

Angelman syndrome is named after Dr. Harry Angelman, an English physician who first described the condition in medical literature in 1965.

Who does Angelman syndrome affect?

Although Angelman syndrome is rare, it can develop in any fetus. The majority of cases result from a spontaneous gene mutation, meaning the condition isn’t passed down from biological parent(s) to child.

It affects people assigned male at birth and people assigned female at birth equally.

How common is Angelman syndrome?

Angelman syndrome is rare. It affects approximately 1 in 12,000 to 20,000 people.

Is Angelman syndrome on the autism spectrum?

Autism spectrum disorder and Angelman syndrome share some of the same characteristics, such as developmental delay and speech issues, and are particularly difficult to tell apart during the early stages of development. However, Angelman syndrome isn’t part of the autism spectrum. They are distinct conditions.