Pediatric Dravet syndrome

What is pediatric Dravet syndrome?

Dravet syndrome (formerly known as severe myoclonic epilepsy of infancy  or SMEI), appears in the first year of life in an otherwise healthy baby. Fever or infection triggers a very long seizure (a quick, uncontrollable disturbance in the brain).

Children with Dravet syndrome often need to go to the emergency room because their seizures are so long (usually between 30 and 45 minutes).

Most children with Dravet syndrome develop a developmental disability as they grow older. These developmental issues are related to the intense and frequent seizures and the genetic mutation, which impacts brain development.

What are the signs and symptoms of pediatric Dravet syndrome?

Most babies with Dravet syndrome have a seizure where only one side of their body is shaking (known as a hemiclonic seizure) or have a full-body shaking seizure (called a generalized tonic-clonic seizure).

As a child gets older, they might experience other types of seizures like:

• Absence seizures may cause a child to stare into space, stop talking abruptly and then start talking again. They may also have repetitive movements like chewing their lips or moving a hand.

• Myoclonic seizures are known for their brief, shock-like muscle jerks.

A child might also experience:

• Seizures frequently triggered by a fever and an increase in body temperature

• Behavioral difficulties

• Developmental delays (such as struggles with coordination, speech and language, learning and/or playing)

• Sleep problems

• Unsteady walking

How is pediatric Dravet syndrome diagnosed?

During a detailed physical exam of your child, your Children’s Health doctor will ask about your child’s medical history and family’s medical history. We will also try to learn as much as possible about how the seizure started and what you observed.

We might prescribe the following tests:

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

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

• MRI - This is used to identify changes in your child’s brain through a detailed image.

What are the causes of pediatric Dravet syndrome?

Dravet syndrome is caused by a gene mutation.

How is pediatric Dravet syndrome treated?

There is no cure for the disorder. Children with Dravet syndrome benefit from the following treatments and therapies.

Treatments for Dravet syndrome

• Anti-seizure medications - This is the most common way to treat Dravet syndrome. These medications are in liquid form that your child can drink or a pill that your child can swallow.

• Ketogenic diet - A high-fat, low-carb diet for children who don’t respond well to medications. You and your child will work with one of our nutritionists to learn more about this diet.

• Vagus nerve stimulation - Uses a medical device that's placed inside your child’s chest, with a wire connecting to the vagus nerve (a cranial nerve that runs from the brainstem to the chest and abdomen). This device sends tiny electrical impulses, going through the vagus nerve to the brain that can help control the epilepsy and decrease the number of seizures.

Therapies for Dravet Syndrome

At Children’s Health, we have the expertise and resources to help your child with any issue they may experience with Dravet syndrome.

• If your child experiences a sleep disorder, our Sleep Disorders Center can provide a thorough evaluation.

• If your child has limited speech, a speech-language therapist can help your child express themselves by improving speech with speech therapy, sign language, visual aids or speech technology aids.

• If your child has low muscle tone, a physical or occupational therapist can help strengthen their muscle tone or improve their walking gait.

• If your child needs orthotics, a physical therapist can create customized orthotics to help keep your child’s feet straight. The therapist can also help you find an active stroller or wheelchair for longer distances (a crouched gait makes walking difficult).