Pediatric Doose syndrome

What is pediatric Doose syndrome?

Doose syndrome, also know as myoclonic-astatic epilepsy (MAE), causes seizures (quick, uncontrollable disturbances in the brain) in children between ages 1 and 5. Less than 2% of children who have epilepsy are diagnosed with Doose syndrome.

Since these seizures can be very hard to control, it’s essential we get your child started on a treatment plan as soon as possible.

Doose syndrome was first described by Dr.  Herman Doose from Germany in 1970.

Risk factors

Boys are twice as likely to have Doose syndrome as girls.

What are the signs and symptoms of pediatric Doose syndrome?

Children with Doose syndrome have seizures that may last for just a few seconds but could happen between 10 and 100 times each day. Children with Doose syndrome may experience only one type of seizure, but some experience different seizure types, including grand mal seizures or convulsions.

The most common seizure types seen in Doose syndrome are:

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

• Myoclonic atonic seizures - May cause a child’s muscles to jerk and then go limp, which could cause the child to fall to the ground.

How is pediatric Doose syndrome diagnosed?

During a detailed physical exam of your child, a neurologist will ask about your child’s past medical history, your family’s medical history, and about what you have noticed about your child’s behavior and their seizures.

In addition, a neurologist might recommend tests that include:

• Electroencephalogram (EEG) - This is a test that can 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 test takes a detailed image that can identify changes in your child's brain that show the cause for the epilepsy.

• Genetic testing - This helps to identify changes (also called mutations) in your child's chromosomes, genes or proteins that show the cause for the epilepsy and Doose syndrome. Genetic testing helps us figure out the best treatment.

  • Some genetic conditions respond better to a high-fat, low-carbohydrate diet (known as the ketogenic diet), rather than medication. Genetic testing can help us make sure we get started with the right treatment plan as soon as possible.

What causes pediatric Doose syndrome?

Doose syndrome could be caused by many different reasons, such as a gene mutation or a brain malformation.

How is pediatric Doose syndrome treated?

Some children with epilepsy improve over time. But for others, it can be a lifelong issue that’s difficult to control. Your doctor will talk to you about the options and help you decide which one is right for your child.

We offer a variety of treatment options, including:

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

• The Ketogenic diet - This is a high-fat, low-carb diet for children who don’t respond well to medications. You and your child will work with one of the nutritionists at Children’s Health to learn more about this diet.

• Vagus nerve stimulation - This 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 epilepsy and decrease the number of seizures.