Dravet syndrome is a rare form of epilepsy that affects one in 16,000 children . It is a disease that has no cure and whose symptoms begin between 4 and 12 months of life. In addition, it almost always brings with it developmental delays and intellectual disability.
Dravet syndrome was described by psychiatrist and epilepsy expert Charlotte Dravet in 1978. This disease is also known as severe myoclonic epilepsy of childhood (SMEI) and is of genetic origin . 80% of those affected usually present a mutation of the SCN1A gene, which means a reduction in sodium ion channels, which are what allow these ions to enter and leave the cell, propagating electrical signals. According to the Dravet Syndrome Foundation, 90% of SCN1A mutations are neither inherited nor present in the parents . On the other hand, between 4 and 10% is inherited from the parents. Mutations in this gene are associated with migraines, febrile seizures, or generalized epilepsy with febrile seizures.
Symptoms of Dravet syndrome
Symptoms of the disease begin, in most cases, before the first year of life . These are epileptic seizures that are initially related to febrile processes . Seizures can occur in a generalized way (the whole brain is involved) and first there is stiffness in the arms and legs and then a seizure . These epileptic seizures are known as tonic-clonic seizures. It can also happen that involuntary movements occur, bypassing the stiffness part, which cause sudden contractions of the muscles. Over time, seizures can appear without the need for a fever. Something very typical of Dravet syndrome is that these seizures do not respond to any treatment.
So far, the child’s cognitive development is normal, with the onset of seizures, it will be altered. It is after two years when this will become clear. Psychomotor retardation will also occur. Symptoms may include: ataxia (lack of coordination of voluntary movements that can affect gait, speech, and limbs), autism spectrum disorders, sleep, eating and growth problems. In speech is where it is most often noticed.
Seizures can last more than 10 minutes and recur in a short time .
According to the Dravet Syndrome Foundation, a high percentage of cases do not meet all the requirements that we have listed. It can also happen that what you have is epilepsy but that it does not evolve in such a negative way, although the onset of this is similar to what happens in Dravet syndrome.
Factors that can trigger epileptic seizures
In Dravet syndrome, epileptic seizures can be caused by a number of factors:
– Fever .
– Sudden changes in body temperature , either because it is hot, as a result of exercising, hot baths or after being vaccinated.
– Visual stimuli such as lights.
– Intense emotions .
According to the latest studies, it is estimated that in Spain there are between 348 and 540 patients correctly diagnosed with Dravet syndrome. However, according to the Foundation, the number of diagnosed patients is higher than 2,000, based on data on the prevalence of the disease.
Consequences of Dravet syndrome
In most cases, children with Dravet syndrome will have either a moderate or severe intellectual disability throughout their lives.
The affected person will present difficulties to communicate and it is that the speech will be greatly affected. It may also present certain characteristics of the autism spectrum .
Sometimes, those affected by the syndrome can have aggressive behaviors and even psychosis .
The mortality associated with the syndrome is approximately 15% , mainly due to sudden unexpected death in epilepsy, prolonged seizures or accidents related to them such as drowning or infections.
DNA test, to improve the lives of those affected
Genome sequencing tests
Genetic diagnosis serves to confirm the clinical diagnosis and thus be able to treat the disease as soon as possible. In fact, some epilepsy treatments, in the case of Dravet syndrome, far from alleviating the symptoms, can worsen them and make them more difficult to control.
