How scared would you be if your little one, or a baby under one year old, suddenly had a severe seizure with a fever and lasted more than five minutes? It could be the first sign of a very rare and potentially serious condition called Dravet Syndrome. In this condition, little ones can have different types of seizures. Not only that, they can also have many other symptoms, such as difficulty speaking, walking problems, and learning delays. Don't worry, let's talk about this in detail.
What are the symptoms of Dravet Syndrome?
The first symptom of a child with Dravet Syndrome is a seizure . This usually occurs before the baby is one year old. This first seizure may look like this:
- It may take more than five minutes .
- It often occurs with fever, another illness, or high environmental temperatures.
- Uncontrolled muscle contractions (we call them convulsions) may occur.
- It can affect only one side of the body or both sides.
After a baby turns one year old, other types of seizures may occur. These may also occur without a fever. This means that seizures can occur without an increase in temperature. These different types of seizures are:
- Absence seizures: Sudden loss of consciousness, like you're standing still. But this is for a very short time.
- Atonic seizures: Sudden loss of muscle control, causing the body to seem to go limp.
- Hemiclonic seizures: Muscle twitches on only one side of the body.
- Focal seizures: There may be a brief loss of consciousness, loss of muscle control, and unusual sensations.
- Myoclonic seizures: Sudden, small jerks that seem to jerk the muscles.
- Tonic-clonic seizures: This is the most common type of seizure we see. The body jerks uncontrollably.
In addition to these seizure symptoms, children with Dravet Syndrome may experience other symptoms. These include:
- Developmental delays: Delays in language development, especially in speech development, may be seen.
- Behavioral problems: Can sometimes behave aggressively.
- Neurodevelopmental disorders: For example, conditions like `ADHD` (Attention Deficit Hyperactivity Disorder).
- Balance and coordination difficulties: It can be difficult to maintain proper balance while walking.
- Movement difficulties: You may notice tremors or an unsteady gait.
- Muscle weakness (hypotonia): Decreased muscle tone.
- Sleep problems: Things like not being able to fall asleep, waking up frequently.
- Growth and nutrition problems: Things like poor weight gain, loss of appetite.
- Dysautonomia: This means difficulty controlling things like body temperature, heart rate, and blood pressure.
What causes Dravet Syndrome?
The main cause of Dravet Syndrome is often a genetic variant in a gene called `SCN1A` . This `SCN1A` gene tells our cells to make sodium channels that carry sodium ions (positively charged sodium atoms). These channels help our brain cells make and send electrical signals.
Simply put, think of this `SCN1A` gene as a `cooking recipe` for making sodium channels that act like `gates` to our brain cells. If there is a small mistake in this `recipe`, that is, a genetic mutation, those `gates` do not form properly. Then the transmission of messages between brain cells, that is, `neurotransmission`, is disrupted. This is why symptoms such as seizures appear.
Is this a genetic thing?
Yes, Dravet Syndrome is a genetic condition . But most of the time, it is a sporadic condition. That is, it occurs suddenly, without any previous family history of the condition. However, there have been cases where the condition has affected several family members over several generations.
In rare cases of hereditary Dravet syndrome, the mutation may be present in only some cells of one parent (this is called `mosaicism`). Or, it can be passed down from generation to generation in an `autosomal dominant` pattern. This means that a child can inherit the condition even if only one parent has the mutation.
But one thing to remember is that not everyone with the `SCN1A` gene mutation will develop symptoms of Dravet Syndrome. Some people may have this mutation but have no symptoms at all. Also, some people may have symptoms of Dravet Syndrome but not have the `SCN1A` gene mutation.
Are there any special risk factors for this?
If one of your parents or another family member has epilepsy or a mutation in the `SCN1A` gene, you may be at risk of developing this condition.
What are the possible complications of Dravet Syndrome?
The most serious complications that can arise from this condition can be life-threatening . The main ones are:
- Injuries caused by seizures.
- Status epilepticus: This is a condition where there are continuous seizures. This requires immediate medical attention.
- Sudden Unexplained Death in Epilepsy (`SUDEP`).
The doctor treating your child will explain to you what these danger signs are and will also make a plan for what to do in an emergency.
How do you accurately diagnose Dravet Syndrome?
Your child's doctor will first perform a physical exam to check for symptoms of Dravet Syndrome. They will also ask about your child's medical history and any medications they are taking.
The doctor may ask you questions like these:
- Was the child's development normal (or close to normal) before the first seizure?
- Have you had two or more seizures, with or without fever, before the age of one year?
- Were those seizures two or more, lasting more than five minutes?
- Can you describe what happened when the seizure occurred (for example, did the child thrash, did you watch, did they only move one side of their body)?
In addition, the doctor may do a blood test or saliva test to check for the SCN1A gene mutation. They may also do tests that examine the brain, such as MRI (Magnetic Resonance Imaging) and EEG (Electroencephalogram). However, sometimes this diagnosis can be delayed, as the results of MRI and EEG tests may be normal in the early stages.
How is Dravet Syndrome treated?
The main goal of treatment is to reduce the number of seizures your child has and the severity of the seizures . However, because each child's seizure type and duration are different, not every child responds to treatment in the same way. Therefore, the treatment plan is tailored to each individual. This may include:
- Antiseizure medications: These medications can reduce the number of seizures your child has. However, some medications can also increase the number of seizures, so the doctor will treat this very carefully and with frequent monitoring.
- Ketogenic diet: The doctor may recommend a change in your child's diet. This involves a diet that is high in fat and low in carbohydrates.
- Therapies: If there are developmental delays, educational intervention programs can help. Physical, occupational, or speech therapy can also help address the problems.
What medications are given for Dravet Syndrome?
The U.S. Food and Drug Administration (FDA) has approved these medications to treat seizures associated with Dravet Syndrome in people over 2 years of age:
- Cannabidiol
- Fenfluramine
- Stiripentol
This medicine is available in various forms, such as pills and liquids, so it is easy for both young children and adults to take.
Important: Your doctor may tell you not to use some anti-seizure medications, such as sodium channel blockers such as carbamazepine, oxcarbazepine, lamotrigine, and phenytoin, because they can make seizures worse.
Your doctor may recommend more than one medication to control each type of seizure. The International Consensus on Diagnosis and Management of Dravet Syndrome recommends trying these medications in this order:
- First-line treatment: Valproate
- Second-line treatment: Fenfluramine, stiripentol, or clobazam
- Third-line treatment: Cannabidiol
- Fourth-line treatment: Topiramate, ketogenic diet
Rescue medications
These are medicines given in emergencies, such as a continuous seizure (`status epilepticus`). Your child's doctor will create a `seizure action plan` for what to do if a seizure occurs at home or at school. These emergency medicines can stop your child's seizure. These are usually in the class of medicines called `benzodiazepines`. Examples:
- Clonazepam (`Clonazepam`)
- Diazepam (`Diazepam`)
- Lorazepam (`Lorazepam`)
- Midazolam
This medication is available as a nasal spray, a rectal gel, or as tablets that dissolve in the mouth.
What is the prognosis for a child with Dravet Syndrome?
Only your doctor can give you the exact details about your child's outlook, as it varies from person to person. Your child may have long-lasting, frequent seizures. However, as your child gets older, the number and duration of these seizures may decrease. Although medications can reduce the number and severity of seizures, they cannot completely eliminate seizures in someone with Dravet Syndrome.
You can expect your child to take longer to reach developmental milestones than other children their age. They may also need extra help at school. However, they may learn at a slower pace as they get older.
Your child's medical team may refer you to a variety of specialists to treat problems that arise as your child grows. For example, a podiatrist can help with walking problems by fitting special shoes (orthotics). Or, an orthopedic surgeon can help with walking problems or conditions like scoliosis.
Is there a complete cure for this?
There is currently no cure for Dravet Syndrome. Also, since it is a genetic condition, there is no way to prevent it. However, research is ongoing. Clinical trials of gene therapies have shown promising initial results.
What is the life expectancy of a child with Dravet Syndrome?
People with Dravet Syndrome are at risk of early death from SUDEP (sudden unexplained death due to epilepsy), status epilepticus (a continuous seizure), or accidents that occur during a seizure. However, most people with this condition survive into adulthood.
Since your child's condition may or may not match the statistics, your child's doctor can give you the most accurate information about what to expect.
When should you see a doctor?
If your child has two or more seizures lasting more than five minutes, especially if they are caused by a fever, before they are one year old, tell your doctor. This could be a sign of Dravet Syndrome.
After you are diagnosed with Dravet Syndrome, you will need to see your child's medical team regularly. If you notice that your child's seizures are getting worse (more frequent, longer lasting) after starting treatment, tell your doctor.
Your doctor will advise you on the signs and symptoms to look out for in an emergency, and what to do in that case. Symptoms that require emergency treatment include:
- A seizure that lasts more than five minutes and causes difficulty breathing.
- Several seizures occur in a row, but the child does not regain consciousness during them.
- A seizure causes physical injury.
I understand how scary it is to watch your child have a seizure. Even though it's painful, it's not easy to know that something like that will happen again someday. This is the reality of living with Dravet Syndrome.
However, your child's medical team will work with you to understand what to expect during a seizure. They will also teach you how to create a `seizure action plan`. Knowing who to contact and what resources to use in an emergency can give you some peace of mind.
Treatment can reduce the frequency and severity of seizures. Because your child will need lifelong medical care, he or she will get to know his or her doctors well. If you have any questions along the way, don't be afraid to ask your child's medical team.
Finally, remember (Take-Home Message)
Dravet Syndrome is a rare and complex epilepsy condition that affects young children. It's understandable to feel a great deal of fear and anxiety when you hear about it.
The most important thing is to recognize the symptoms quickly and seek proper medical advice and treatment.
- If your little one has prolonged seizures along with a fever, don't delay talking to a doctor about it.
- Living with this condition is a challenge, but you are not alone. You can find a lot of support from doctors, therapists, and other parents who have had similar experiences.
- Treatments and research continue to improve, so don't give up hope.
May you find the strength to provide the best care for your child!
` Dravet Syndrome, epilepsy, seizures, genetic mutations, pediatrics, neurological diseases, SCN1A
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