Dravet syndrome: causes, symptoms and treatment

In the group of neurological diseases known as epilepsy, we find Dravet syndrome, a very serious variant that occurs in children and involves alterations in the development of cognition, motor skills and socialization, among others. aspects.

In this article we will describe what is Dravet syndrome and what are its causes and symptoms more common, as well as interventions commonly used to treat this type of epilepsy.

    What is Dravet syndrome?

    Dravet syndrome, also called infantile myoclonic epilepsy, Is a severe type of epilepsy which begins in the first year of life. Epileptic seizures are usually triggered by febrile states or the presence of high temperatures and consist of sudden muscle contractions.

    In addition, Dravet syndrome is characterized by its resistance to treatment and for its chronic nature. In the long term, it usually progresses to other types of epilepsy and causes impaired psychomotor development and severe cognitive impairment.

    This disorder is named after Charlotte Dravet, The psychiatrist and epileptologist who identified it in 1978. It has a genetic origin and is estimated to affect about 1 in 15 to 40,000 newborns, so Dravet syndrome is considered a rare disease.

      Types of epileptic seizures

      We call epilepsy a set of neurological diseases the main characteristic is that they promote the onset of epileptic seizures or epilepsy, episodes of excessive electrical activity in the brain which produce different symptoms.

      Epileptic seizures can be very different from each other, depending on the type of epilepsy the person has. Below we will describe the main types of seizures that can occur against the background of epilepsy.

      1. Focal seizures

      Focal epileptic seizures occur in a limited (or focal) way in a certain area of ​​the brain. When such a seizure occurs, the person maintains consciousness, unlike in other types. They are often preceded by sensory experiences called “aura”..

      2. Tonic-clonic crisis

      This type of seizure is widespread, that is, it affects both brain hemispheres. They consist of two phases: the tonic, during which the extremities become rigid, and clonic, which consists of the appearance of spasms on the head, arms and legs.

      3. Myoclonic attacks (or myoclonus)

      It is known as “myoclonus” in epileptic seizures they involve sudden muscle contractions, As in Dravet syndrome. Myoclonic seizures are usually generalized (occur throughout the body), although they can also be focal and affect only certain muscles.

      4. Absence crisis

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

      Signs and symptoms

      Dravet syndrome it usually starts around 6 months, Onset with febrile seizures, which occur as a result of high body temperature and occur almost exclusively in children. Subsequently, the disorder progresses to other types of seizures, with a predominance of myoclonus.

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

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

      In addition, the onset of this type of epilepsy usually involves a significant delay in the development of cognitive skills, Engines and linguistics. These problems are not reduced as the child grows, so Dravet syndrome leads to severe deterioration in several areas.

        Causes of this disorder

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

        Mutations in this gene do not appear to be inherited, but occur 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 seizure in babies with Dravet syndrome is usually associated with the administration of vaccines, which is usually done around the age of about 6 months.

        Intervention and treatment

        The clinical features and course of Dravet syndrome vary widely from case to case, so no general intervention protocol has been established, although there are several measures that may be helpful. The main goal of treatment is to reduce the frequency of seizures.

        Medicines used to treat seizures of this disorder include: anticonvulsants such as topiramate, Valproic acid and clobazam. This group of drugs includes sodium channel blockers, including gabapentin, carbamazepine, and lamotrigine. Benzodiazepines such as midazolam and diazepam are also given for prolonged attacks. Of course, the drug is used only under medical supervision.

        Also, changing the diet may be effective in reducing the likelihood of epileptic seizures. More precisely the ketogenic diet is recommendedSimply put, the carbohydrate levels are low and the fat and protein levels are high. This type of diet can involve risks, so it should not be applied without a prescription and without medical supervision.

        Common interventions in Dravet syndrome often include psychomotor and linguistic rehabilitation, Necessary to minimize cognitive impairment and developmental impairment.

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

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