Baby lying down under blankets

Dravet Syndrome

Dravet syndrome is a rare, severe, and lifelong form of drug-resistant epilepsy. The first signs of the condition in otherwise healthy infants appear as frequent fever-associated seizures, but they progress quickly to different and more severe seizure types -- from brief absence seizures to full-blown tonic-clonic convulsive seizures. Longer seizures may evolve into status epilepticus, a life-threatening medical emergency where seizures are continuous. Dravet syndrome was previously known as severe myoclonic epilepsy of infancy (SMEI).

Dravet syndrome is suspected when an infant has more than two very long (10 minutes or more) seizures within the first year of life, when seizures occur on just one side of the body, or when an infant’s seizures are triggered by a warm water bath. 

It's estimated that around 5% of children who experience a seizure in their first year may have Dravet, but it is commonly undiagnosed. 80% of children with Dravet have a mutated SCN1A gene, which causes sodium channels in the brain to malfunction (not all children with SCN1A develop Dravet; many have milder seizure disorders.) Other gene mutations that affect sodium channels also cause Dravet syndrome. The condition is usually the result of a new gene mutation (i.e., not passed from parents to children), and genetic testing may reveal the presence of the syndrome. Sequencing of the SCN1A gene is done to reveal the mutation that causes Dravet syndrome; however, the syndrome may also be caused by mutations in genes that have yet to be identified. Approximately 5%-10% of cases are caused by genetic material passed from parents to children. 

Children with Dravet syndrome often experience sleep and nutrition disorders, chronic infections, and orthopedic conditions. Co-occurring disorders are common, such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), or dysautonomia, which impairs the body’s ability to regulate involuntary functions such as heating, cooling, and digestion. 

Children with Dravet require constant care due to poorly controlled seizure activity and the inability to care for themselves. Parents need to plan both for the needed care as well as necessary medical and therapeutic interventions.

Conventional Treatment

In addition to seizures, hypotonia (low muscle tone), abnormal EEGs (electroencephalogram), and slowing development may also indicate the presence of Dravet syndrome. The condition is notoriously drug-resistant. Conventional treatment focuses on finding the right combination of anticonvulsant medications that produce the greatest seizure reduction while allowing the child to maintain the best quality of life. Surgery is ineffective as the cause of Dravet syndrome is not localized to one area of the brain.

Many of the most widely used epileptic drugs cannot be used to treat Dravet syndrome seizures. Antiepileptic sodium channel blockers such as Lamictal, Dilantin, Tegretol, Trileptal, Benzel, and Cerebyx sometimes worsen the seizures for a Dravet patient. Sabril and Gabitril, in particular, may increase some types of seizures. Valproic acid and zonisamide are the two anticonvulsants commonly prescribed to treat Dravet syndrome. Potassium bromide has shown to be highly effective in controlling seizures; however, it is currently not available by prescription in the U.S. Epidiolex is a cannabidiol, or non-psychoactive marijuana extract. It became the first drug approved by the FDA for Dravet syndrome.

Children with Dravet syndrome require constant care due to poorly controlled seizure activity and the inability to care for themselves. Parents must plan for the presence of constant caregivers as well as the necessary medical and therapeutic interventions. It's important to schedule a comprehensive assessment as soon as a diagnosis is made to assemble a multidisciplinary treatment team. In addition to physicians, that team may include speech, physical, occupational, and behavioral therapists.  

Support

At The Brain Possible, our goal is to empower you to take a holistic approach to your child’s treatment. Below are ways in which you can support several aspects of your child’s recovery; before embarking on any, be sure to discuss them with your trusted health care providers.

Physical

Children with Dravet syndrome may develop ataxia, the loss of muscle coordination. Physical therapy can help them develop more stable movement patterns, and occupational therapy can help children improve and adapt daily tasks such as dressing and eating.  Seizures can be triggered by stress, lack of sleep, eating habits, infections, menstrual cycles and stimulants such as caffeine. To better understand seizure triggers, parents and children can keep a “seizure diary” to record the events and conditions that preceded a seizure, which can illuminate the common causes in a child’s life. Regular exercise may also help minimize the occurrence of seizures.

Therapies such as craniosacral, which regulates the flow of cerebrospinal fluid (CSF), scalp acupuncture, which encourages the flow of energy through meridians in the head and body, and chiropractic treatment, which uses spinal manipulation to increase joint mobility and the flow of cerebrospinal fluid, have helped reduce the occurrence of seizures. In recent decades, several seizure alert devices have been developed, including bed sensors and mobile phone apps. You can read more about them here

Emotional/Social

Dravet syndrome can exact a great emotional toll on children and their caregivers. Children may may feel self-consciousness and shame after having seizures in front of their peers. School-age children may benefit from working with a therapist to help process these feelings and develop healthy coping mechanisms. Additionally, because the condition exacts a toll on caregivers who must provide help with mobility and feeding, parents of children with Dravet syndrome can find their emotional resources strained. Individual and family counseling as well as support groups can be beneficial for all family members. 

Canine therapy can help emotional development by allowing children to experience trust and closeness with animals and their therapeutic helpers. In addition, specialized service dogs can be trained to predict and respond to seizures.

Sensory

Sensory issues are common for children with Dravet syndrome. Many struggle with aphasia - the inability to express or understand speech -  and/or agnosia - the inability to recognize objects, smells, and/or sounds. Speech therapy can be started as early as age two. 

Sensory integration therapies, such as the Wilbarger Protocol and Floortime, may include games, puzzles, and personal care or household tasks that help children regulate their states of sensory arousal. They also aid in building neuronal pathways for better integration of sensory input from multiple sources. Hydrotherapy, which uses water as a setting for occupational therapy and/or as a means of transferring heat or cold to the body, can also help with relaxation and neurological integration of sensory experiences. Additionally, olfactory and gustatory therapy strengthens children’s senses of taste and smell. These senses activate the brain’s hippocampus, which is where memory resides. These therapies, which can involve repeated timed sessions of experiencing a range of tastes and smells, are thought to help children strengthen memory. 

Intellectual

Cognitive delays are common in children with Dravet syndrome, and many will benefit from placement in classes with teachers trained in teaching students with developmental delays. Due to their condition, they may miss an extensive amount of school and need additional support from tutors and teachers. It’s also important that a child’s teachers are able to recognize and respond to seizures. Caregivers can create a seizure response plan and ensure that their child’s teachers and school administrators have it on hand. Children whose seizures are triggered by noise and light patterns should ask the school how it can minimize triggers. 

Educational therapists, occupational therapists, and learning specialists can help a child with sensory issues find the right assistive devices and accomodations, such as voice-activated word processing programs, large text readers, and extra test-taking time. 

Nutritional/Environmental

Gastrostomy feeding may be required for children who have difficulty swallowing and/or are unable to eat and drink their required calories each day. In gastrostomy feeding (also called g-tube) a tube is surgically inserted to port formula, liquids, and pureed foods directly into the stomach. 

B vitamin, magnesium, and zinc supplementation have been shown to help control seizures. The Ketogenic Diet is often prescribed to children with Dravet syndrome. The high-fat diet changes the brain metabolism and has demonstrated consistent success in minimizing seizure activity. Inflammation is thought to be a seizure trigger; the Low Inflammatory High-fat Diet may help control seizure activity for children whose seizures are triggered by inflammation. 

Physiological

In addition to finding the best combination of medications (see above), implanting a vagus nerve stimulator (VNS) may reduce seizure frequency and severity. You can see how the transcutaneous vagus nerve stimulator works in this video.

Stem cell therapy promises new advances in Dravet syndrome treatment.  In several studies, stem cell implantations have reduced seizures in epileptic patients. Scientists have also been able to use the connective tissue of Dravet patients to create pluripotent cells. The cells can become neurons, which are enabling scientists to study the impacts of drugs and other therapies for Dravet syndrome.  

We understand that the categorization of conditions on The Brain Possible may not perfectly describe your child.

Our goal is inclusivity, opening the door to dialogue and information sharing.