Dravet Syndrome is a serious but rare syndrome associated with seizures and behavioral and developmental problems in children. Signs appear in the form of severe and prolonged febrile convulsions during the first year of life. At a later stage, the child’s development will stop and previously learned skills will be lost. Dravet syndrome is treated with regular epilepsy medication, but the consequences of the condition cannot be reversed.
Dravet syndrome
- What is Dravet Syndrome?
- Causes
- Symptoms
- Therapy
What is Dravet Syndrome?
Dravet Syndrome or Dravet syndrome is an epilepsy syndrome . It is also called Severe Mycolonus Epilepsy of Infancy (SMEI). In addition to difficult-to-treat epileptic seizures, it also causes various additional problems such as developmental delay and learning problems. There is great diversity in severity among patients with the syndrome. It is a very rare condition and occurs in approximately 1 in 30,000 people and about as often in boys as in girls.
Causes
The cause of Dravet syndrome is not yet precisely known. It is known that approximately 80% of children with the condition have an SCN1 mutation ( DNA mutation ), but other additional factors must also play a role for the condition to manifest itself. Additional research needs to be conducted into this. Other genes in which mutations may play a role are CHD2, GABRA1, STXBP1, HCN1 and PCDH19.
Symptoms
The epileptic seizures in children with Dravet Syndrome usually start after the first year of life. The only sign of the condition before then is that around the fifth month infants suffer from febrile convulsions that are worse than can be considered normal. Over time, these convulsions develop into attacks without fever. These seizures can be seen as epileptic episodes. They often last a long time and occur relatively frequently during sleep. This may involve different types of epileptic seizures such as atonic or tonic-clonic seizures, myclonias or atypical absences.
With epilepsy in young children, there is often the hope that they will grow out of it. Unfortunately, this is a vain hope for children with Dravet syndrome. The syndrome is progressive in the first years of life: psychological and motor development can quickly stop and after the age of two, many of the skills already learned, such as walking and talking, are lost. Additional neurological symptoms such as spasticity and ataxia (coordination disorders) may also develop.
Therapy
There is no specific treatment for Dravet Syndrome other than controlling the epilepsy symptoms. It must be determined for each patient which type of epilepsy medication works best. Eligible medications include valporic acid, clobazam, topimarate, midazolam, stiripentol and ethoxisumine. Sometimes treatment with prednisone is also tried.
A ketogenic diet may also have a beneficial effect on Dravet patients. This is a diet in which a person eats a lot of fat and few carbohydrates. This ensures that the body breaks down fats into ketones in the absence of carbohydrates to break down for the purpose of extracting energy. The brain is therefore nourished in a different way and this can lead to a decrease in epileptic seizures. A ketogenic diet cannot be started on your own. Children who opt for this approach are often admitted to an epilepsy center for a number of days. A specialized dietitian can then tailor the diet in collaboration with a pediatrician and neurologist.
A third option is treatment using a vagus nerve stimulator (NVS). This involves surgically implanting a box under the collarbone. An electrode conducts small electrical impulses from this box to the vagus nerve in the brain. After the operation, you have to find the optimal setting of the impulses. Epileptic attacks can therefore be reduced and, by external use of a magnet, the box can be extra stimulated during an attack with the intention of reducing its intensity. There are a number of
specialized centers and hospitals in the Netherlands with a lot of expertise in this area. This includes the following locations:
- Epilepsy center Kempenhaeghe (Heeze)
- Foundation for Epilepsy Institutions Netherlands (Heemstede)
- Wilhelmina Children’s Hospital (Utrecht)
- Sophia Children’s Hospital (Rotterdam)
- UMC St. Radboud (Nijmegen)
