Dravet syndrome is a condition that alters brain function, causing severe epilepsy , and it begins in the first year of life.
These epileptic seizures are usually triggered by fever. Once this syndrome develops, and especially from the second year of life onwards, a much slower cognitive development can be observed in the child.
Dravet syndrome is largely unknown due to its rarity . Therefore, in today's article, we will explore it gradually, examining its causes, treatment options, diagnosis, symptoms, and more. The more we understand about these types of diseases, the greater the chances of early diagnosis and a better quality of life for those affected.
What is Dravet syndrome and how does it develop?
This is a rare disease; it affects 1 in every 20.000 to 40.000 children . In Spain, approximately 250 to 450 children under the age of 19 may currently have it.
Among all cases, mortality represents 15% and in half of those cases it is due to a sudden death of a person with epilepsy.
The last few decades have represented an advance in Dravet syndrome, as research has been conducted more and more and today we know a little better about this disease and how to treat it.
Causes
Several studies have identified problems or alterations in a specific gene (SCN1A) in the presence of Dravet syndrome. However, this is only the case in 80% of cases.
This alteration causes a sodium channel in neurons to be reduced, which would cause the disease.
Symptom
Symptoms begin at an early age, sometimes appearing as early as 6 months. Epileptic seizures and convulsions are common and do not respond to specific treatments. Over time, other problems arise, such as developmental delays, hyperactivity, and orthopedic disorders. These symptoms fall into the following three categories:
Crisis : During childhood, it is common to experience various minor infections, fevers, or low-grade fevers. When these are very frequent and continuous, it is likely a symptom of Dravet syndrome.
Problems in cognitive development: hyperactivity, difficulty in communication and socialization may appear.
Problems in physical development: such as scoliosis, valgus feet or growth, feeding, immunological problems, etc.
What is an epileptic seizure?
Epileptic seizures are episodes of altered brain function. The electrical signal that neurons use to communicate spreads chaotically.
These crises affect the brain functions that we control , that is, speech, moving muscles, memorizing, thinking, etc.
The duration of these epileptic seizures is around two minutes , although they can last less.
After suffering a stroke, it's common for a person to feel tired, confused, weak, and have difficulty speaking for a while or even hours. Gradually, the neurons will regain energy and resume their normal function.
status epilepticus
If these seizures were longer, lasting more than 30 minutes, or if there were several seizures in a row without recovery between them, we would be talking about status epilepticus.
Diagnosis and treatment of Dravet syndrome
It is a syndrome that develops at a very young age, which is why it is important to diagnose it correctly as soon as possible. However, most diagnoses occur around 3 or 4 years of age, when cognitive delays become evident in the child as they grow. This delay is apparent when comparing the child's development to others of the same age.
The problem is that patients are often mistaken for having epileptic seizures and prescribed medication for them . Research has shown that certain drugs developed to treat epilepsy are counterproductive for Dravet syndrome.
Given its easy confusion with epilepsy, the patient may have been under treatment for it for a couple of years until being diagnosed with Dravet syndrome.
Currently, this syndrome can be diagnosed and confirmed as early as the first year of life . There are clinics with specialized units for this syndrome, such as the University of Navarra Clinic (Spain).
Treatment
Eliminating Dravet syndrome seizures completely is not impossible, but it is achieved in very few cases. It is a very difficult disease to treat . What can be achieved in a large number of patients is that these seizures become much shorter, and even reduced in number (occurring once a month or less).
It's important to evaluate each case individually and remember that medications should not be given to treat epilepsy, as they can worsen Dravet syndrome. Above all, always consult professionals specializing in this syndrome to rule it out in any epileptic episode observed in young children.
Dravet Syndrome Prognosis
It is a rare disease, which means there are few specialists working on it. This is crucial to avoid treating it as just another form of epilepsy.
The more we understand that a single symptom can reflect various illnesses, each with its own specific treatment, the better for our health. When in doubt, it's best to consult several specialists from different fields or with different diseases. This doesn't mean disregarding any one specialist or group of specialists; rather, the human body and the wide variety of illnesses and symptoms it can present are so diverse that it's humanly impossible for a single person to possess all the necessary knowledge.
That's why specialization is so important in the healthcare sector. Therefore, when faced with symptoms that might seem unusual, it's always a good idea to find out which specialists are available nearby and consult them for a better assessment of the problem.