What is Dravet Syndrome?

Dravet syndrome (DS) is a severe form of pediatric epilepsy and it is extremely rare (1 in 20,000–40,000 children). This is more common in boys as compared to girls, and in 16–18 % of cases, the syndrome can be fatal. It manifests itself within 12 months of birth.

This genetic disease is characterized by:

The first information about the disease is dated 1978. The pathology was described by French epileptologist and psychiatrist Charlotte Dravet, after whom the syndrome was named.

Causes of Dravet Syndrome in Children

The word 'syndrome' tells us that doctors have not yet fully determined the cause of a condition. So, in the case of Dravet syndrome, doctors can't really say why it occurs.
According to specialists, Dravet syndrome can be provoked by:

That said, doctors call genetic predisposition the main cause of this severe childhood pathology.

The genetic pathology is inherited by an autosomal dominant type.
Autosomal means that the gene that is responsible for the trait in question lies outside the sex chromosomes, in autosomes. Autosomes are paired chromosomes that are identical in both male and female individuals of a species.

In the autosomal dominant type of inheritance, the trait (disease) manifests itself if the gene is in the dominant state. For example, in medical genetics problems, people with the Aa, AA genotypes are sick because they have a dominant A gene, whereas the genotype of a healthy person will be aa.

In 80 percent of cases, the main cause of the disease is a mutation of the GABRG2 and SCN1A genes. The mutation causes a defect in the channels that allow sodium to enter a cell. Sodium-ion channels are critical components of any tissue that requires electrical signals, including the brain and heart.

There are a number of triggers that activate the disease in a baby's body:

All of the above factors will always be very dangerous for patients with this syndrome.
 

How Dravet Syndrome Progresses Over Time

The disease begins to develop actively in the first year of a baby's life. The peak of the syndrome occurs when a child reaches the age of five months. Up to this point, the baby’s body develops in the same way as that of a healthy baby. This means that before the baby develops the disease, there are no psychological or neurological disorders. The baby begins to manifest the syndrome after its activation.

Doctors have identified three main phases of the Dravet syndrome progression:

At this stage, the child has seizures in the presence of an elevated temperature. In some cases, the seizures turn into an epileptic fit.

This stage of the disease progression occurs over a period of 2–8 years. At this point, the patient begins to experience more pronounced symptoms. Seizures occur without an increase in body temperature, and short-term seizures turn into long-term ones. Convulsions spread to half of the torso, and in some cases, status epilepticus can develop and last for several days.

Children with the aggressive phase of the disease are characterized by hyperactivity and retardation in intellectual development: oligophrenia. There is muscle weakness, coordination disorders, shaky gait, and trembling in the limbs when performing precise movements. At the age of 6–8 years, children develop an increased sensitivity to external stimuli, which can cause them to have seizures triggered by flashes of light, loud music, or sudden movements of others, etc.

This is the final stage of the disease, which begins when the child is over 8 years of age. Seizures and convulsions are more common at night and can be fatal. Constant use of anticonvulsants can also cause dangerous complications, such as death from cardiac arrest or asphyxia.

The pathology continues to progress and leads to other dangerous anomalies: psychoses and attempts at self-harm. A sharp decline in intelligence and memory disorders also enters the picture.

In the static phase of Dravet syndrome, there is no response to attempts to treat the pathology. Therefore, if parents notice early signs of the disease in their child, they should immediately take the baby to a doctor. Ignoring the problem can lead to tragic consequences.

Diagnosis of Dravet Syndrome

Dravet syndrome is diagnosed based on a doctor's clinical evaluation. Diagnostic tests can either confirm or rule out the diagnosis. According to the Dravet Syndrome Foundation, the clinical characteristics of the condition include at least four of the following five characteristics:

  1. Normal mental and motor development before the first seizure.
  2. Two or more seizures before the age of 12 months.
  3. A combination of involuntary twitching of muscles and muscle fibers (seizures).
  4. Two or more seizures lasting more than 10 minutes.
  5. No improvement with standard anticonvulsant treatment and continued seizures after two years.

It can take 1–2 years from the onset of the disease to make a correct diagnosis. The pathology can be suspected in almost any child with prolonged seizures that occur with fever, often time referred to as febrile seizures

If Dravet syndrome is suspected, a doctor prescribes a diagnosis of the disease:

The Prognosis for Dravet Syndrome

As children with Dravet syndrome grow up, their degree of mental retardation varies from mild to severe. For most adolescents and adults with Dravet syndrome, it depends on their caregivers. Seizures tend to decrease in number and duration with age. However, people with Dravet syndrome are at a higher risk of sudden death.

As with many rare diseases, the parents of a child with Dravet syndrome very often feel helpless and are afraid of the unknown. To support children and their parents, special national funds and schools have been established to combat epilepsy, where you can access the latest information, communicate with children and their parents dealing with the same condition, and learn how to administer first aid during a seizure.

Clinical Study For The Treatment Of Dravet Syndrome Available At Rare Disease Research

Rare Disease Research is conducting a clinical study investigating the efficacy of orally administered Lorcaserin as adjunctive treatment in subjects with Dravet Syndrome. The study will assess the percent change in frequency of convulsive seizures when compared to placebo.   

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