Pediatric Dravet Syndrome
Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare genetic epileptic condition in children. It is associated with other medical problems including cardiac problems.
Dravet syndrome is a lifelong dysfunction that appears in the first year of life in an otherwise healthy baby. Up until the associated seizures begin, the baby has normal development. However, most children with this condition develop some sort of developmental disability as the seizures progress.
By around age 6, some children with the disorder continue developing normally or catch up on delayed development. Many children with Dravet syndrome experience developmental delays for the rest of their lives.
Sometimes the first seizure associated with Dravet syndrome is a febrile seizure (due to a fever). However, after that first febrile seizure occurs, a child with this condition can have additional seizures without a fever. Children with this condition are extremely vulnerable to infections and frequently have seizures when they are ill or have a fever.
The Epilepsy Center at Children’s Health is the first program in the country to be certified by the Joint Commission, the nation’s preeminent standard-setting accrediting and certifying regulatory body in healthcare. We are also a Level 4 Epilepsy Center, providing the highest level of treatment for children with epilepsy. That means we have experience identifying Dravet Syndrome, and in researching the latest advances in treatment for the condition.
Our interdisciplinary medical team, which includes genetic counselors, has the experience to not only comprehensively diagnose children with this condition, but we remain the area’s only center to perform the most advanced procedures and therapies for the treatment of epilepsy.
At Children’s Health, our treatment includes education and support for the whole family. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:
- Provide seizure safety education programs
- Expedite appointments in order to get your child evaluated quickly
In addition to various types of seizures, children with Dravet syndrome can also experience the following related symptoms:
- Chronic infections
- Growth and nutritional problems
- Low humoral immunity (body has decreased ability to create antibodies to fight infection)
- Low motor tone that can lead to painful foot problems
- Problems with the autonomic nervous system (controls unconscious bodily processes such as breathing, heartbeat and digestion)
- Unsteady walking
Tests and Diagnosis
To diagnose epilepsy, your physician will do a detailed physical exam of your child, ask you about your child’s past medical history and family history, and learn as much as possible from you about how a seizure started and what you observed.
If Dravet Syndrome is suspected, testing may be prescribed including a blood test and electroencephalogram (EEG) and brain imaging to determine where in the brain the seizures are coming from, and to determine if your child has Dravet Syndrome. An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.
Dravet Syndrome treatment is aimed at finding the best way to treat and control the seizures, Treatment is highly individualized and may include:
- Anti-epileptic drugs (AEDs)
- A ketogenic diet, which includes a regimen of high-fat, low-carbohydrate foods.
- Surgery to implant a small device in the chest called a vagal nerve stimulator to control electrical brain activity.
Developmental assessments should begin as early as possible. Physical, occupational, speech, and social/play therapies and an enriched environment are important for children with Dravet Syndrome.
What is epilepsy?
Epilepsy is a condition that affects how the nerve cells in the brain communicate with each other. When the normal electrical activity in the brain interferes with this communication process, seizures can occur.
What are the symptoms of a seizure?
The epilepsy symptoms most people recognize are shaking (called convulsions) combined with the body getting rigid, clenching the jaw, and biting the tongue. These are called tonic-clonic seizures and many people still know them as grand mal seizures. But some seizures are barely noticeable. Children may stare into space, stop talking abruptly and then start talking again, or start repetitious movements like chewing their lips or moving a hand. These types of seizures are called absence seizures, which used to be known as petit mal seizures. Sometimes a child may experience smelling something that isn’t there, numbness or a tingling sensations before the seizure. These are called auras.
What should I do while my child is having a seizure?
If the seizure is small twitching or staring, they should come out of it easily. For convulsions, make sure your child is in a chair that they can’t fall out of or lying on the floor with a pillow under their head. Turn their head to the side, but NEVER try to put anything into their mouth. Do not shake or hit them or shout at them. If the seizure lasts for more than five minutes or seems violent, call 9-1-1.
After a seizure, your child may be confused, foggy or tired. If they want to lie down, let them.
How is epilepsy treated?
There is no one specific treatment for any child with epilepsy. Each treatment plan is developed based on the child’s diagnosis and symptoms. For many children, medication can control seizures. Special diets can also help. If seizures happen so often that they reduce the child’s quality of life, surgery may be necessary. Surgery can include removing the section of brain where seizures originate or implanting a small device that regulates electrical brain activity.
What are the side effects of epilepsy treatment?
There can be side effects from treatment as well as from the disorder. Treatments can cause dizziness, fatigue and lead to balance problems. Seizure drugs can also cause bone density loss. Living with epilepsy can be stressful. A child may feel isolated, alone or depressed. Support groups and counseling can help.
Where can I find a support group?
Our Epilepsy Center will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about epilepsy and support groups.