Dravet Syndrome
"The cognitive stagnation of children with Dravet will be greater the later the diagnosis".
DR. ROCÍO SÁNCHEZ-CARPINTERO ABAD
PERSON IN CHARGE. DRAVET'S UNIT
What is Dravet syndrome?
Dravet syndrome is a very severe grade of epileptic encephalopathy that begins in the first year of life, with seizures usually triggered by fever, followed by drug-resistant epilepsy. From the second year, there is a slowing of the child's cognitive development.
Factors are determined to make an early diagnosis (when the child has clinical symptoms is confirmed by genetic test) and offer a multidisciplinary treatment.
For these reasons, the Clínica Universidad de Navarra has constituted the first Dravet Syndrome Unit in Spain, composed of specialists from different areas and led by a neuropediatrician specialized in this pathology.
In the Clinic we carry out the multidisciplinary evaluation of these children in a single day, avoiding displacements that can be complicated by crises.
What are the symptoms of Dravet syndrome?
- Frequent crises, which are usually triggered in common situations that occur in the pediatric age: common infections, fever or fevers, temperature changes in the bathroom, vaccinations, etc. They can also occur spontaneously, without a trigger.
- Stagnation in cognitive development and the appearance of behavioral problems such as hyperactivity, communication disorders, etc., which make schooling difficult.
- Presence of associated problems such as orthopedic disorders (scoliosis, clubfoot, etc.), growth disorders, eating disorders, immunological disorders, vegetative disorders, etc.
- Danger of worsening crises with certain drugs that are frequently used if a correct diagnosis has not been reached.
History of Mikel, a child with Dravet syndrome (only in spanish)
The most common symptoms are:
- Frequent epileptic seizures.
- Stagnation in cognitive development.
- Hyperactivity.
- Orthopedic disorders.
Do you have any of these symptoms?
Your child may have Dravet syndrome
What are the causes?
The incidence of Dravet syndrome is 1 in 20,000-40,000 children. Considered a "rare disease", it is estimated that between 250 and 450 Spanish children and adolescents under the age of 19 suffer from it.
In the last 10 years, advances in molecular genetics have made it possible to identify various alterations in the SCN1A gene as the cause of Dravet syndrome in 80% of cases.
In addition, this genetic alteration causes other types of epilepsies that often occur with febrile seizures.
What is the prognosis of Dravet syndrome?
It is very important to know and administer the appropriate treatment, since some of the traditional antiepileptic drugs can make the crises worse.
As it is a rare disease, there are few specialists with experience in the diagnosis and management of this pathology.
The Clinic is one of the Spanish hospitals that treats more children with Dravet syndrome due to our extensive experience in the treatment of difficult epilepsies.
How is Dravet syndrome diagnosed?
It is essential to reach a correct diagnosis early
In many cases, the diagnosis is usually delayed until 3-4 years when the cognitive delay is evident and the difficulty to control the crises is greater. This delay involves unnecessary testing of the child and the use of certain antiepileptic drugs that have been shown to be harmful in children with Dravet syndrome.
Currently, it is possible to make the diagnosis in the first year of life.
At the Dravet Syndrome Clinical Unit at the Clinic, we perform the multidisciplinary evaluation of these children in a single day, avoiding trips that can be complicated by crises.
How are children with Dravet syndrome treated?
It is a very difficult disease to treat. Very few patients manage to eliminate their crises completely with treatment.
Nevertheless, a specialized treatment allows to shorten the number of prolonged crises. Almost 50% of the patients treated at the Clinica Universidad de Navarra manage to have only one crisis a month or even less.
On the other hand, there are a series of drugs, such as some antiepileptic drugs, which can worsen the crises in these patients.
In the Clinic we will offer you all the necessary information about the medications that you should avoid.
What clinical trials do we have on Dravet Syndrome?
Dravet's Unit
Formed by a specialized multidisciplinary team headed by a neuropediatrician who is an expert in this pathology and who will indicate treatment for epilepsy and neurological problems.
This Unit also includes specialists in Psychopedagogy, Neurophysiology, Rehabilitation, Trauma and Child Endocrinology. We work with all of them as a team to achieve an early diagnosis and offer the necessary treatment and care in the most effective way.
Where do we treat it?
IN NAVARRA AND MADRID
The Neuropediatrics Unit
of the Clínica Universidad de Navarra
The Unit is part of the Department of Pediatrics and works closely with specialists from other departments to provide integrated care for children and adolescents with risk factors or diseases affecting the central nervous system and neuromuscular system.
It is made up of a team of neuropediatric specialists and psychopedagogues.
Diseases we treat
- Early development and its deviations.
- Motor control disorders.
- Global developmental disorders. Autism.
- Epilepsy in children. Dravet syndrome.
- Sleep disorders.
- Attention deficit and hyperactivity disorders. ADHD.
Why at the Clinica?
- Teamwork to offer a valuation in 24 hours.
- Most experienced nationally in Dravet Syndrome.
Our team of professionals
Neuropediatric specialists with experience in the treatment of Dravet syndrome
