Dravet Syndrome: Epilepsy disorders are rare in children

Dravet Syndrome is a concern for parents as it often occurs in children, which can cause physical and mental problems.

Let's find out what Dravet's syndrome is, its symptoms, its causes, its diagnosis and treatment!

What is Dravet Syndrome?

Dravet's syndrome is a rare disorder characterized by epilepsy symptoms and developmental problems. Seizures usually appear at a young age in life. Around 2 - 3 years old, children will have cognitive, behavioral and physical problems.

This is a lifelong condition associated with a genetic defect in the SCN1A gene, but it can sometimes happen in the absence of a genetic defect. This syndrome is diagnosed based on the child's clinical signs and symptoms, combined with diagnostic tests.

Epilepsy caused by Dravet's syndrome is especially difficult to control. Anticonvulsant treatments are often highly effective for reducing the seizures that occur in Dravet's syndrome. Researchers are still continuing to look for new strategies and treatment options to control this problem.

Dravet syndrome was discovered by psychiatrist Charlotte Dravet in 1978. The condition is estimated to have a 1: 15,700 incidence in 15,700 (that is, in 15,700 only 1 person will have it. ), therefore, is considered a rare epilepsy disorder.

Symptoms of Dravet's syndrome

Symptoms of Dravet's syndrome that may worsen over time include:

• Seizures: Several types of epilepsy that commonly occur in Dravet's syndrome include myoclonic seizure, tonic clonic seizure, and non-convulsive seizure. .

• Activation of convulsions: Patients can be sensitive to light, so they are prone to convulsions when they see flashing lights. In addition, the patient may be prone to seizures in response to changes in body temperature.

• Ataxia (balance problem): The patient has difficulty in coordination and movement, begins to appear at a young age and then continues in adolescence and adulthood.

• Decreased mobility: People with Dravet's syndrome tend to appear bent over walking, and often suffer from leg pain, unsteady walking and hunchback.

• Cognitive impairment: Children may experience speech and cognitive problems that last throughout life.

• Behavioral problems: People living with the syndrome may exhibit irritable, aggressive emotions or autistic-like behavior.

• Infections: Patients easily encounter problems with infections, illness, fever, weak body due to weak immune system.

• Uneven body temperature regulation: The patient can experience a change in the autonomic nervous system, which can cause the body temperature to be too high or low, leading to abnormal sweating.

• Bone problems: The patient can have weak bones that break easily .

• Irregular heartbeat: Approximately 30% of people with an irregular heartbeat, such as tachycardia, slow heart rate or other unusual problem, such as a long QT interval (electrocardiogram index) .

Dravet syndrome is a condition that occurs with difficult to control symptoms that put the patient at risk of premature death, associated with the damage caused by epilepsy. Children with this syndrome are at an increased risk of SUDEP (sudden death of unknown epilepsy) that often occurs during sleep.

Causes of Dravet syndrome

Dravet syndrome often occurs due to defects in the function of sodium channels - the channels that regulate brain and nerve function. This can cause a range of problems, including erratic brain activity (causing seizures) and restricting communication by brain cells (causing developmental impairment).

About 80% of people with Dravet's syndrome have a chromosomal defect in the SCN1A gene - the gene that encodes sodium channels. The condition can be inherited, and can sometimes manifest itself in a child due to a genetic mutation.

Diagnosis of Dravet syndrome

Dravet's syndrome is diagnosed based on a doctor's clinical judgment. According to the Dravet Syndrome Foundation , the clinical features of this syndrome include at least 4 of the following 5 characteristics:

Children still develop normal cognitive and motor development before the first seizure appears

Have two or more seizures before 1 year of age

Seizures accompanied by muscle twitching, convulsive spasms ...

Have two or more seizures lasting more than 10 minutes

Did not respond to standard anticonvulsant therapy and continued to experience epilepsy after 2 years of age

In addition, the doctor may order additional diagnostic tests including: electroencephalogram (EEG), brain MRI, genetic tests.

How to treat Dravet syndrome

Dravet's syndrome is difficult to treat and seizures are not easily controlled. Treatment for the physical, cognitive and behavioral problems of Dravet's syndrome that need to be individually tailored may include: physical therapy, speech therapy, and behavioral therapy.

Medical treatment

Most often, anticonvulsants used in Dravet's syndrome include a combination of drugs including: valproate, clobazam, stiripentol, topiramate, levetiracetam, and bromides. In addition, the patient needs to combine more ketogenic diets and methods of stimulating the vagus nerve to treat and control seizures.

In June 2018, the US Food and Drug Administration (FDA) approved cannabidiol (the active ingredient in the cannabis plant) for the treatment of Dravet's syndrome and Lennox Gastaut's syndrome. Previous studies showed that children with this syndrome, after taking the drug, showed signs of a decrease in the frequency of seizures.

Currently there are standard anticonvulsants that act on sodium channels including carbamazepine, oxcarbazepine, phenytoin and lamotrigine. However, you should be aware that these drugs are not effective in treating epilepsy in Dravet's syndrome, even worsening the disease.

Lifestyle treatment

You should develop a healthy diet and lifestyle that promotes your physical and mental health.These factors may include:

Cool down in hot weather

Let children exercise, walk a lot

Limit bathing in hot water for children

Talk, teach children every day

Reduce fever as soon as your child shows signs of fever

Need to add a variety of foods including 4 food groups: Protein, fat, starches, vitamins and minerals

If you have a child diagnosed with Dravet's syndrome, you need strong management and care throughout your child's life. This syndrome can be improved by taking the appropriate treatment. You need to see your doctor periodically because the treatment regimen can change as your child develops physically or as the condition improves or worsens with age.

The above information can hopefully help you understand what Dravet's syndrome is, its symptoms, its causes, its diagnosis and treatment. This is a disease that can greatly affect a child's future when both physically and mentally are unstable. So, please love your baby patiently, seek support and find early treatment so that the baby quickly improves!