Angelman Syndrome

What is Angelman syndrome?

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. It's named for the doctor who first reported the syndrome in 1965, Dr. Harry Angelman. 

People with AS may:

Many people with AS also have problems with digestion, bone health, and vision. They may also have trouble paying attention because they have so much energy.

How is Angelman syndrome diagnosed and treated?

Diagnosing AS

Babies with AS may have few or no recognizable features at birth but often have feeding problems in the first months of life. They also develop more slowly than most babies between 6 and 12 months of age. They may start having seizures at 2 or 3 years old.

These symptoms can suggest Angelman syndrome, but it can only be diagnosed through genetic testing.

AS is caused when the UBE3A gene, which provides instructions for making an important brain protein, does not work properly. All people inherit two copies of the UBE3A gene: one from each parent. But even in people without AS, the gene from a person’s father is turned off in most cells of the brain and nervous system. People get AS when their mother’s copy of the UBE3A gene is missing or not working well.

A genetic counselor can help answer any questions about genetic testing and inheritance.

Treating AS

There is no cure for AS, but several treatments can help people manage their symptoms. Medicines or special diets can help quiet seizures. Medicines and a regular routine for going to bed can help treat sleep problems.

Physical, occupational, and speech therapy should begin early and continue throughout life to help people with AS develop skills, stay as independent as possible, and improve quality of life. Behavior therapy uses structured activities to help people communicate, learn new skills, and stay as independent as possible. Researchers are also developing gene therapies that aim to restore some lost function in people with AS.

People with AS have trouble speaking, but they still understand most of what they hear. They also often learn to communicate using gestures and special communication devices.

Learn more about neurological diagnostic tests and procedures.

What are the latest updates on Angelman syndrome?

The National Institutes of Health (NIH), which includes NINDS, is the leading federal funder of research on the brain and nervous system. NIH supports new and innovative research to better understand, diagnose, and treat AS.

• Researchers have discovered a medicine that can switch on the father’s inactive copy of the UBE3A gene. Experiments with mice showed that it worked throughout the brain and appeared to be safe.
• Similarly, other researchers are developing a gene therapy designed to permanently switch on the father's inactive copy of the UBE3A gene. They are testing whether it is safe before starting clinical trials in humans.
• Scientists are also studying how different versions of the protein made by the UBE3A gene cause seizures. This information can lead to new treatments.
• A research team found that in experiments using a mouse model of AS, a diet rich in safflower oil improved helped the mice walk. 

For more information on research about AS, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects. 

For research articles and summaries on AS, search PubMed, which contains citations from medical journals and other sites.

How can I or my loved one help improve care for people with Angelman syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about AS and related disorders. Clinical research uses human study participants to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities. This helps make sure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them

For information about participating in clinical research, visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with AS at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.