Angelman Syndrome

What is Angelman syndrome?

Angelman syndrome is a rare neuro-genetic disorder that is often misdiagnosed as cerebral palsy or autism. Angelman syndrome primarily affects the nervous system and causes developmental disabilities, neurological problems, and seizures. Though the disease cannot be cured, patients with Angelman syndrome tend to live a normal lifespan.

What causes Angelman syndrome?

Angelman syndrome is usually caused by problems with a gene located on chromosome 15; either this gene is defective or missing entirely. Researchers are unsure exactly what causes this genetic change because most people who have Angelman syndrome don’t have a family history of the disease.

What are the symptoms of Angelman syndrome?

Developmental delays, such as lack of crawling or babbling, early on are usually the first signs of Angelman syndrome. Later on in early childhood, seizures often begin. In addition, patients with Angelman syndrome often smile and laugh frequently, and have very happy, excitable personalities. Other symptoms of Angelman syndrome include:

• Minimal to no speech
• Difficulty walking or moving (ataxia)
• Small head size
• Tongue thrusting
• Hand flapping and uplifted arms when walking
• Stiff or jerky movements
• Sleep disorders
• Feeding difficulties in younger children and obesity in older children

How is Angelman syndrome diagnosed?

If a doctor suspects that a child may have Angelman syndrome based on an observation of the associated symptoms, he/she may confirm a diagnosis by taking a blood sample for genetic studies. These genetic tests, which will reveal the chromosome defects related to Angelman syndrome, include the following:

• DNA methylation test
• Fluorescence in situ hybridization (FISH) test
• Gene sequencing tests

What are the available treatments for Angelman syndrome?

There is no cure for Angelman syndrome, so current treatment focuses on managing the medical and developmental issues that are caused by the disease. Some symptom-management treatment options include:

• Anti-seizure medication
• Physical therapy
• Communication therapy
• Behavior therapy

Where can I find more information on Angelman syndrome?

• Mayo Clinic
• National Organization for Rare Disorders (NORD)
• U.S. National Library of Medicine