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Dravet syndrome: causes, symptoms and treatment

Dravet syndrome: causes, symptoms and treatment

June 21, 2024

Within the group of neurological diseases that we know as epilepsy we find Dravet syndrome, a very severe variant that occurs in children and that involves alterations in the development of cognition, motor skills and socialization, among other aspects.

In this article we will describe What is Dravet syndrome and what are its causes and symptoms? most common, as well as interventions that are commonly applied to treat this type of epilepsy.

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What is Dravet syndrome?

Dravet's syndrome, also called myoclonic epilepsy of childhood , is a serious type of epilepsy which starts in the first year of life. Epileptic seizures are usually triggered by states of fever or by the presence of high temperatures and consist of abrupt muscle contractions.

In addition, Dravet syndrome It is characterized by its resistance to treatment and because of its chronic nature . In the long term, it usually evolves towards other types of epilepsy and causes alterations in psychomotor development and severe cognitive deterioration.

This disorder gets its name from Charlotte Dravet , the psychiatrist and epileptologist who identified him in 1978. It has a genetic origin and is estimated to affect 1 in every 15-40 thousand approximately newborns, which is why Dravet syndrome is considered a rare disease.

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Types of epileptic seizures

We call epilepsy a set of neurological diseases whose main characteristic is that they favor the appearance of seizures or epileptic attacks, episodes of excessive cerebral electrical activity that produce different symptoms.

Epileptic seizures can be very different between them, depending on the type of epilepsy suffered by the person. Next, we will describe the main types of crises that can occur in the context of epilepsy.

1. Focal crisis

Focal epileptic seizures occur in a limited (or focal) way in a certain area of ​​the brain. When a crisis of this type occurs the person maintains consciousness, unlike what is usual in the rest of types. They are often preceded by sensory experiences called "aura" .

2. Tonic-clonic crisis

This type of crisis is of a generalized nature, that is, it affects both cerebral hemispheres. They consist of two phases: the tonic, during which the extremities become rigid, and the clonic, which consists of the appearance of spasms in the head, arms and legs.

3. Myoclonic (or myoclonic) crises

It is known as "myoclonus" epileptic seizures that they involve abrupt muscle contractions , as in the case of Dravet syndrome. Myoclonic seizures are usually generalized (they occur throughout the body), although they can also be focal and affect only some muscles.

4. Absence crisis

Absence crises last a few seconds and are more subtle than the rest; Sometimes they are only detectable by the movement of an eye or an eyelid. In this type of crisis the person does not usually fall to the ground . Disorientation may occur after epileptic seizures.

Signs and symptoms

Dravet's syndrome usually starts around 6 months of age , debuting with febrile seizures, which occur as a consequence of a high body temperature and occur almost exclusively in children. Later the disorder evolves towards other types of crisis, with predominance of myoclonic.

The seizures of childhood myoclonic epilepsy are often longer than normal, and may last more than 5 minutes. In addition to the states of fever, other common triggers are intense emotions, changes in body temperature caused by physical exercise or heat and the presence of visual stimuli, such as intense lights.

Children with this disorder usually experience symptoms such as ataxia, hyperactivity, impulsivity, insomnia, drowsiness and, in some cases, behavioral and social alterations similar to those of autism.

Also, the appearance of this type of epilepsy usually involves a significant delay in the development of cognitive abilities , motor and linguistic . These problems are not reduced as the child grows, so Dravet syndrome leads to severe deterioration in multiple areas.

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Causes of this disorder

Between 70 and 90% of cases of Dravet syndrome is attributed to mutations in the SCN1A gene , related to the functioning of cellular sodium channels and therefore to the generation and propagation of action potentials. These alterations cause a lower sodium availability and GABAergic inhibitory neurons are more difficult to activate.

The mutations in this gene do not seem to have a hereditary origin, but rather they are produced as random mutations. However, between 5 and 25% of cases are associated with a family component; in these cases the symptoms are usually less severe.

The first epileptic seizure in babies with Dravet syndrome is usually associated with the administration of vaccines, which is carried out regularly at approximately 6 months of age.

Intervention and treatment

The clinical characteristics and course of Dravet syndrome vary greatly depending on the case, so no general intervention protocols have been established, although there are multiple measures that can be helpful. The main objective of treatment is to reduce the frequency of crises .

Among the drugs used to treat epileptic seizures typical of this disorder we find anticonvulsants such as topiramate , valproic acid and clobazam . Blockers of sodium channels include gabapentin, carbamazepine and lamotrigine. Benzodiazepines such as midazolam and diazepam are also given in cases of prolonged seizures. Of course, the medication is only used under medical supervision.

Also, the modification of the feeding can be effective to reduce the likelihood of epileptic seizures. Specifically the ketogenic diet is recommended , that is, that the levels of carbohydrates are low and that the levels of fats and proteins are high. This type of diet can involve risks, so it should not be applied without medical prescription and supervision.

The usual interventions in Dravet syndrome often include the psychomotor and linguistic rehabilitation , necessary to minimize cognitive deterioration and developmental affectations.

The other secondary symptoms of this disease, such as social deficits, sleep disorders or infections, are treated separately by specific interventions.

Baby with epilepsy receives early diagnosis and specialized care at Mayo Clinic (June 2024).

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