Symptoms, treatment, prognosis and more


Dravet syndrome, formerly known as severe myoclonic epilepsy in infancy, is a rare form of epilepsy that begins in the first year of life.

Estimates suggest that it affects approximately 1 in 40,000 in the United States, although some studies indicate that its true incidence may be closer to 1 in 15,000.

In addition to seizures, common symptoms include mobility, behavioral and cognitive abnormalities that develop as the child grows.

Although there is no cure for Dravet syndrome, early diagnosis and treatment can minimize the frequency and intensity of seizures. Without treatment, individuals will continue to have frequent seizures and may suffer from seizure-related accidents or even death.

Keep reading to learn more about Dravet syndrome, including the causes, symptoms, and treatment options for the condition.

The cause of Dravet syndrome is a genetic mutation. Dravet syndrome most often results from a de novo variation, a genetic mutation not present in the parents of a child. It usually first develops in the egg, sperm, or early embryo.

In 70-80% in people with Dravet syndrome, the mutation is in the SCN1A gene, which provides instructions for creating sodium channels found primarily in the brain. These channels control the flow of sodium ions and affect communication between nerve cells or neurons.

Researchers suggest that SCN1A genetic mutations can lead to uncontrolled discharge of gamma-aminobutyric acid from ergic neurons. Gamma-aminobutyric acid (GABA) functions as the main inhibitory neurotransmitter of the central nervous system.

Dravet syndrome seems to affect men twice as often because it affects women.

Symptoms of Dravet syndrome vary from person to person and often change as the individual ages.

The three most common symptoms associated with this disease are seizures, developmental delays, and behavioral abnormalities.

Seizures

Most people with Dravet syndrome start having seizures around the age of 5 to 8 months. The first attack usually results from a trigger like a fever, but sometimes there is no trigger.

When a fever triggers a fit, it’s called a febrile fit. Many infants have febrile seizures, and this symptom alone does not mean a baby has Dravet syndrome.

People with Dravet syndrome usually also develop other types of seizures, including:

People with Dravet syndrome may have a seizure when they feel stress, excitement, see flashing lights, or have a rapid change in body temperature.

Developmental delay

Parents usually begin to notice cognitive delays or difficulty learning and speaking in infants with Dravet syndrome in 1-2 years. It may take longer for these infants to reach certain milestones compared to other children.

Hypotonia, a lack of muscle tone, is common in people with Dravet syndrome around the age of one. Parents may also notice signs of ataxia, a disorder that affects coordination and balance, when infants start to walk.

Behavior disorders

The The most common behavioral traits associated with Dravet syndrome are linked to autism, attention deficit hyperactivity disorder, irritability and aggression.

Dravet syndrome is rare and can be difficult for doctors to diagnose. According to International League Against Epilepsy, a doctor typically uses the following characteristics to make a diagnosis:

  • a family history of seizures or febrile convulsions
  • “normal” development before the onset of seizures
  • a seizure in the first year of life, followed by an increasing number of various types of seizures
  • an EEG test with generalized peak and polyspike waves
  • focal abnormalities or early photosensitivity
  • psychomotor delays after the age of 24 months
  • ataxia

Doctors usually recommend genetic testing in people who may have Dravet syndrome.

At the time of publication, there is no cure for this condition. However, treatments can decrease the number and severity of seizures. Treatment options include:

Medication

Doctors usually prescribe anticonvulsants for people with Dravet syndrome. These decrease the severity and quantity of seizures. Two of the The most common drugs for Dravet syndrome are valproic acid and clobazam.

In 2018, the Food and Drug Administration (FDA) approved a new drug called Epidolex, which contains cannabidiol, to treat seizures associated with Dravet syndrome. In 2020, fenfluramine (Fintepla), previously a treatment for obesity, has also been approved for use in treatment-resistant children with the disease.

Diet

Research suggests the ketogenic diet, which is high in fat and low in carbohydrates, may help people with Dravet syndrome. Diet affects the biochemical pathways involved in the functioning of the central nervous system. It also affects GABA levels.

Avoid triggers

Avoiding seizure triggers is important for people with Dravet syndrome. Hot baths, hot tubs, and flashing lights can all cause seizures.

Learn more about triggers for focal seizures here.

A vagus nerve stimulator

People with Dravet syndrome can benefit a vagus nerve stimulator.

A doctor will perform surgery to insert a small electrical device into the person’s chest for this treatment. The device, which sends electrical impulses to the brain via the vagus nerve, can help reduce the frequency of seizures. The vagus nerve is involved in the functioning of the nervous system.

Treatment of developmental delays

There are many treatments for developmental delays, but none are curative. The most common treatments are occupational therapy and physiotherapy.

It is common for people with Dravet syndrome to have guardians when they reach adulthood.

The average life expectancy of people with Dravet syndrome is unclear, but estimates suggest that 10-20% of people with Dravet syndrome do not survive beyond 10 years.

Sudden Unexpected Death in Epilepsy (SUDEP) is the most common cause. For this reason, neurologists recommend that parents of children with this disease adopt SUDEP risk reduction strategies, such as seizure detection and baby monitoring devices.

The frequency of seizures in people with Dravet syndrome becomes less common as they reach adulthood, but they usually still have developmental and motor disabilities. Many adults with Dravet syndrome have caregivers to help them with their daily activities.

As scientists understand this disease better, they continue to make improvements to current treatments. For example, Epidolex, the first drug approved by the FDA for Dravet syndrome, can reduce the frequency of seizures by up to 39%.

Dravet syndrome is a rare form of epilepsy that begins in early childhood. Genetic mutations are the root cause of the disease, which leads to seizures and developmental disorders. Seizures can be difficult to control.

Doctors and researchers still don’t really know the average life expectancy of people with Dravet syndrome. Adults with the disease usually need the help of a caretaker to help them with their daily activities.

There is no cure for Dravet syndrome, but symptoms can improve once an individual receives treatment. Doctors usually prescribe anticonvulsant drugs and advise people with Dravet syndrome to avoid seizure triggers.


Source link

Previous The answer key for the NTA NEET 2021 entrance exam will be released soon
Next FCSD BOE discusses rising graduation rates - Oswego County today

No Comment

Leave a reply

Your email address will not be published. Required fields are marked *