Within the group of neurological diseases that we know as epilepsy we find Dravet syndrome, a very severe variant that occurs in children and entails 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 the interventions that are commonly applied to treat this type of epilepsy.
Dravet syndrome also called myoclonic epilepsy of infancyis a severe type of epilepsy which begins in the first year of life. Epileptic seizures are usually triggered by fever or the presence of high temperatures and consist of sudden muscle contractions.
Additionally, Dravet syndrome It is characterized by its resistance to treatment and due to its chronic nature. In the long term it usually evolves into other types of epilepsy and causes alterations in 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 approximately 1 in every 15-40 thousand newborns, which is why Dravet syndrome is considered a rare disease.
Types of epileptic seizures
We call epilepsy a group of neurological diseases. whose main characteristic is that they favor the appearance of seizures or epileptic attacks, episodes of excessive brain electrical activity that produce different symptoms.
Epileptic seizures can be very different from one another, depending on the type of epilepsy that the person suffers from. Below we will describe the main types of seizures that can occur in the context of epilepsy.
1. Focal crises
Focal epileptic seizures occur in a limited (or focal) manner in a specific area of the brain. When a crisis of this type occurs, the person maintains consciousness, unlike what is usual in other types. They are often preceded by sensory experiences called “aura.”.
2. Tonic-clonic seizures
This type of crisis is generalized, that is, it affects both cerebral hemispheres. They consist of two phases: the tonic phase, during which the extremities become rigid, and clonic, which consists of the appearance of spasms in the head, arms and legs.
3. Myoclonic seizures (or myoclonus)
Epileptic seizures are known as “myoclonus”. involve sudden muscle contractions as happens in Dravet syndrome. Myoclonic seizures are normally generalized (they occur throughout the body), although they can also be focal and affect only some muscles.
4. Absence crisis
Absence seizures 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 the epileptic seizure.
Signs and symptoms
Dravet 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. Subsequently, the disorder evolves into other types of seizures, with myoclonic seizures predominating.
The seizures of childhood myoclonic epilepsy are frequently longer than normal, lasting more than 5 minutes. In addition to 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 bright lights.
Children with this disorder often experience symptoms such as ataxia, hyperactivity, impulsivity, insomnia, drowsiness and, in some cases, behavioral and social alterations similar to those of autism.
Likewise, the appearance of this type of epilepsy usually involves a significant delay in the development of cognitive skillsmotor and linguistic. These problems do not reduce as the child grows, so Dravet syndrome involves severe impairment in multiple areas.
Causes of this disorder
Between 70 and 90% of cases of Dravet syndrome It 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 less sodium availability and make GABAergic inhibitory neurons more difficult to activate.
Mutations in this gene do not appear to have a hereditary origin, but rather occur as random mutations. However, between 5 and 25% of cases are associated with a family component; In these cases the symptoms are normally less severe.
The first seizure in babies with Dravet syndrome is usually associated with the administration of vaccines, which is usually carried out at approximately 6 months of age.
Intervention and treatment
The clinical characteristics and course of Dravet syndrome vary greatly depending on the case, which is why general intervention protocols have not been established, although there are multiple measures that can be helpful. The main goal of treatment is to reduce the frequency of seizures.
Among the drugs used to treat epileptic seizures typical of this disorder we find anticonvulsants such as topiramatevalproic acid and clobazam. Among this group of medications, sodium channel blockers stand out, including gabapentin, carbamazepine and lamotrigine. Benzodiazepines such as midazolam and diazepam are also administered in cases of prolonged attacks. Of course, the medication is only used under medical supervision.
Additionally, dietary modification may be effective in reducing the likelihood of seizures. Specifically ketogenic diet is recommended That is, carbohydrate levels are low and fat and protein levels are high. This type of diet can carry risks, so it should not be applied without medical prescription and supervision.
Common interventions in Dravet syndrome frequently include psychomotor and linguistic rehabilitation necessary to minimize cognitive deterioration and developmental impairments.
The rest of the secondary symptoms of this disease, such as social deficits, sleep disorders or infections, are treated separately through specific interventions.
