Pediatric Angelman syndrome

What is pediatric Angelman syndrome?

Angelman syndrome is a complex, rare genetic disorder. It mostly affects the body’s nervous system. A child with Angelman syndrome may have difficulty with coordination, speech and language, learning or playing. Through clinical research trials, our experts are dedicated to improving care for children with Angelman syndrome.

Angelman syndrome was first described by British pediatrician, Dr. Harry Angelman in 1965. He initally referred to the symdrome as "Puppet Children".

What are the signs and symptoms of pediatric Angelman syndrome?

Typically, the first signs of Angelman syndrome begin to appear when a child is between 6 and 12 months old. Your infant may not reach typical milestones, such as crawling or babbling. Some children may experience seizures (quick, uncontrollable disturbances in the brain) around ages 1 to 3 years.

Symptoms include:

• Small head

• Crouched gait

• Below-average intelligence (intellectual disability)

• Low muscle tone

• Difficulty walking, moving or balancing

• No speech or minimal speech

• Sleep problems

• Frequent smiling and laughter

• Happy, excitable personality

How is pediatric Angelman syndrome diagnosed?

Angelman syndrome is diagnosed by a neurologist. You might bring your child to a neurologist if they are struggling with coordination, speech and language, learning or playing. The neurologist will ask if your child had delayed milestones or epilepsy. A small head, crouched gait and low muscle tone are three key symptoms that the neurologist will look for when they are making a diagnosis.

If we suspect your child has Angelman syndrome, we’ll recommend the following tests:

• Genetic testing - This is to identify changes (also called mutations) in your child's chromosomes, genes or proteins that indicate they have Angelman syndrome.

• Magnetic Resonance Imaging (MRI) - This test is for a detailed image that can identify changes in your child's brain.

• Electroencephalogram (EEG) - This test is to determine where in the brain the seizures are coming from (if they are having seizures). An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.

What is the cause of pediatric Angelman syndrome?

Angelman syndrome happens when a specific gene on a chromosome gets mutated or completely deleted. We don’t know why this happens.

How is pediatric Angelman syndrome treated?

Children’s Health has the expertise and resources to help your child with any issue they may experience with Angelman syndrome.

These include:

• Nutritionists can help your child if they are experiencing seizures that can't be controlled with medication. If your child is experiencing seizures and anti-seizure medication isn’t working, a high-fat, low-carbohydrate diet (ketogenic diet) might help. You and your child will work with one of our nutritionists to learn more about this diet.

• Physical therapists (PT) helps your child improve their muscle tone and walking gait.

• Physical medicine and rehabilitation specialists and a mobility clinic providers will create customized orthotics or braces to help keep your child’s feet straight. Your child might also need an active stroller or wheelchair for longer distances because a crouched gait can make walking difficult.

• Sleep specialists will help your child if they have severe sleep problems.

• Speech-language therapists will help your child better express themselves if they have limited speech. Sign language, visual aids or speech technology aids can be helpful.