Pediatric Angelman Syndrome

Angelman syndrome is a rare genetic disorder that affects only 1 in 15,000 babies. Children with this condition are often misdiagnosed as having cerebral palsy or autism since the symptoms can be similar. Scientists are working on understanding and finding better treatments and cures for Angelman syndrome.

From neurologists to physical and speech therapists, we offer all the specialists your child may need, in one place.

Dallas

214-456-2768
Fax: 214-456-2554
EEG: 214-456-2740

Plano

469-303-0055
Fax: 469-303-0655
EEG: 469-303-2740

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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.

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, to identify changes (also called mutations) in your child's chromosomes, genes or proteins that indicate they have Angelman syndrome.
Magnetic Resonance Imaging (MRI) for a detailed image that can identify changes in your child's brain.
Electroencephalogram (EEG), 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 causes 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, who 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 (the ketogenic diet) might help. You and your child will work with one of our nutritionists to learn more about this diet.
Physical therapists (PT), to help your child improve their muscle tone and walking gait.
Physical medicine and rehabilitation specialists and a mobility clinic, to 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, at our Sleep Disorders Center, to help your child if they have severe sleep problems.
Speech-language therapists, who can help your child better express themselves if they have limited speech. Sign language, visual aids or speech technology aids can be helpful.