Dravet Syndrome

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AmbitCare

June 27, 2022

What is Dravet Syndrome?

Dravet syndrome (DS) is a severe form of epilepsy. It is characterized by regular, prolonged seizures that are frequently triggered by high body temperature (hyperthermia), difficulty speaking, difficulty walking, muscle weakness, difficulty sleeping, developmental delay (not reaching milestones at the right time), and various other health problems.

Dravet Syndrome, also known as severe myoclonic (twitching) epilepsy of infancy (SMEI), is a rare genetic disorder that causes frequent and long convulsions (seizure activity or fits). It can lead to developmental delays and difficulty learning among other things. This condition typically appears during the first year of life with fever-related seizures followed by seizures that can have muscle jerking and twitching, or relaxing movements brought on by nothing.

Key Characteristics

Emerges during the first year of life in a healthy child.

Seizures

Generalized tonic-clonic

Shortly before a generalized tonic-clonic seizure, your child may feel light-headed, experience a sudden mood change, anxiety, or behavior changes. Your child may experience an aura. An aura is different for everyone, but common symptoms include odd smells, vision difficulties, a pins and needles feeling, nausea, or fear.   

Next, your child’s body will enter the next stage of the seizures, which may include confusion, twitching or violent muscle jerking. 

The final stage of the seizure is the recovery period which may include extreme tiredness, loss of bladder and bowel control, anxiety, nausea, or evidence of injury.  

Myoclonic

Muscle jerking in a muscle or a group of muscles on both sides of the body.  It may happen so fast that they may be confused with a tic or clumsiness.  

Atypical Absence Seizures 

  • Staring spells that last a few minutes
  • Common symptoms include lip smacking, chewing motions, and eyelid fluttering, slumping, or falling

Complex partial seizures, now known as focal onset impaired awareness seizures

  • Usually last between 30 seconds and 2 minutes
  • Auditory (hearing) hallucination 
  • Changes in vision
  • Sense of fear
  • Strange and repetitive behavior, like smacking lips or running around the house

Other symptoms of Dravet syndrome include sleep problems, hyperactivity (very active), behavior problems, and difficulty eating.

What causes Dravet Syndrome?

Each of our cells contains 46 strands of DNA. Each of our DNA contains millions of nucleotide sequences, called genes. Our genes provide instructions on how to create proteins that are responsible for building our bodies from the inside out. DS is caused by a mutation in the SCN1A gene. Over 80% of patients with DS have a SCN1A gene mutation, but not all SCN1A mutations cause DS. This gene normally codes for a protein that helps to control electrical activity in the brain. When this protein is mutated or changed, it can lead to electrical activity that cannot be controlled in the brain and seizures. The mutation can be passed down from parents to their children.

How to Diagnose Dravet Syndrome?

DS is typically diagnosed during the first year of life. The doctor will do a physical exam and ask about the child's medical history. The doctor may also order some tests, such as an EEG (electroencephalogram) or a genetic test, to help diagnose the condition. It can be difficult to diagnose because the symptoms are similar to those of other seizure disorders.

There are a few methods that can be used to help diagnose DS. One is a genetic test that can determine if a person has the mutated SCN1A gene. Another is an electroencephalogram (EEG) which can help to identify abnormal electrical activity in the brain.  

If a person is experiencing seizures, their doctor may order an EEG to help diagnose DS. The EEG will show if the seizures are coming from a specific area of the brain. This information can help to guide treatment decisions. If a person has the mutated SCN1A gene, they will likely develop DS.

Is Dravet Syndrome Curable?

There is no cure for DS, but with treatment, most people with the condition are able to live relatively normal lives. Treatment can help to manage symptoms and improve quality of life.

How is Dravet Syndrome treated?

There is no one-size-fits-all treatment for DS, as the condition can affect people differently. Early diagnosis and treatment is a must for managing this condition. DS is treated with a combination of medication and therapy.

Medication:

There are some medicines that may help ease the symptoms. There are a variety of medications that can be prescribed, depending on the person's specific symptoms. Some common medications include anticonvulsants, corticosteroids, sodium channel blockers, anti-epileptic drugs, and muscle relaxants.  

Dietary Changes:

Dietary changes can also be helpful in managing DS. It is important to eat a healthy diet with plenty of nutrients to help support growth and development. Some specific dietary changes that may be beneficial include increasing protein intake, adding healthy fats to the diet, and avoiding trigger foods.

Surgery:

Surgery may also be an option for some people with DS. Surgery can help to improve seizure control and quality of life. Some common surgical procedures include corpus callosotomy, vagus nerve stimulation, and deep brain stimulation.

Therapy:

Therapies like physical and occupational therapy can help those with DS to improve their ability to function and communicate.  

Families of those with DS need to know about the signs and symptoms of this condition so that they can seek treatment early. It's important to work with a healthcare team that specializes in DS to come up with a treatment plan that works best for your child.

How is Dravet Syndrome managed?

There is currently no cure for DS but there are ways to help manage the symptoms. Some things that can help are:

  1. Limiting triggers that can cause seizures  
  2. Keeping a seizure diary to help track and find any patterns in seizures
  3. Working with a team of specialists who can help devise a treatment plan needed for your child
  4. Taking medications prescribed by a doctor to help control seizures
  5. Participating in physical and/or occupational therapy to improve developmental delays and muscle weakness
  6. Practicing stress-relieving techniques like playing or outdoor recreation
  7. Joining a support group for people with Dravet Syndrome or other seizure disorders

If you or someone you love has Dravet Syndrome, know that there is help available. There are ways to ease the symptoms and help those who suffer from this syndrome live a better life. There are many people who understand what you're going through and are here to support you. Do not hesitate to reach out for assistance when needed.

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