Angelman Syndrome: A Comprehensive Review

What is Angelman Syndrome?

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by intellectual disability, severe speech impairment, ataxia, and a seizure disorder.

Causes

AS is caused by a pathologic lack of expression of the UBE3A gene on the maternal chromosome. This gene encodes a protein that is essential for normal brain development.

Symptoms

The main features of AS include:

• Intellectual disability
• Lack of speech
• Seizures
• Ataxia
• Sleep problems
• Behavioral problems

Diagnosis

AS is diagnosed based on a combination of clinical and genetic testing.

Treatment

There is no cure for AS, but there are treatments that can help manage the symptoms. These include:

• Therapy to improve speech, motor skills, and cognitive function
• Medication to control seizures and other symptoms
• Special education and support services

Outlook

The outlook for people with AS varies depending on the severity of their symptoms. With early intervention and treatment, many people with AS can live full and happy lives.