Las epileptic diseases they can cause serious problems that have a profound impact on daily life and the development of patients, especially if they are not addressed in time. Therefore, it is vital to find the means to achieve diagnoses as early as possible.
What is Dravet syndrome?
As stated by the Clínica Universitaria de Navarra, Dravet syndrome is a type of very severe epileptic encephalopathy It appears in the first year of life, with crises normally triggered by fever. It takes the form of drug-resistant epilepsy, which from the second year of life causes a slowdown in the patient’s cognitive development.
It occurs in one of every 20,000 to 40,000 children, an incidence low enough to be grant rare disease status. In 80% of cases, it is believed to be caused by alterations in a gene called SCN1A.
Fortunately, a early diagnostic (which is carried out through a genetic test based on symptoms) and early multidisciplinary interventions can be decisive in the progression of the disease.
What are your symptoms?
The first sign of Dravet syndrome is frequent seizures, which appear in otherwise usual situations in the pediatric clinic: mild infections, fever or low-grade fever, temperature changes in the bathroom, vaccinations… Crises can, on the other hand, worsen with the use of common drugs.
Over time, more serious signs may appear, such as a stagnation in cognitive development and the appearance of behavioral problems such as hyperactivity or communication disorders that become evident in the context of schooling.
In addition to this, it is common for the patient to suffer orthopedic disorders (scoliosis, valgus feet), growth, nutrition, immune or vegetative.
How is it treated?
Unfortunately, Dravet syndrome is very difficult to treat, and few patients manage to completely eliminate their crises with treatment. However, it is possible to reduce the number of prolonged crises.
Medications such as topiramate and valproate, while other antiepileptics such as carbamazepine or lamotrigine often aggravate seizures. The ketogenic diet can achieve certain improvements, and in recent years the use of certain cannabis products in this context has begun to be studied.