What is Angelman Syndrome?

Angelman syndrome is a rare genetic disorder that affects the development of the nervous system, resulting in severe developmental problems and neurological symptoms.

Angelman syndrome is usually caused by a mutation or loss of a portion of chromosome 15 that comes from the mother. The specific gene that is often involved is called UBE3A. This gene plays a crucial role in the development and function of the nervous system.

Symptoms include developmental delay, speech problems, motor problems, and unique behavioral characteristics such as frequent laughing and smiling, a happy and excited temperament. Many children with Angelman syndrome have seizures and difficulty falling asleep and staying asleep.

Confirmation of the diagnosis is through genetic testing such as karyotyping, FISH (fluorescence in situ hybridization), and DNA methylation analysis to identify the specific genetic abnormality.

There is no cure for Angelman syndrome, but treatment focuses on controlling symptoms and maximizing functional independence. Treatment options include:

The life expectancy of individuals with Angelman syndrome is generally normal, but quality of life can be significantly affected by the severity of symptoms and comorbid medical problems. Early intervention and a comprehensive care plan can help optimize development and function.

Source: https://www.ninds.nih.gov/health-information/disorders/angelman-syndrome

Author: Prof. Dr. Dirk Devroey - Latest update: 2024-08-08 - Copyright: Clinifacts 2025