Dravet Syndrome in Children Early Symptoms and How to Detect It

Dravet syndrome is a rare condition that affects infants and young children. It is mainly characterized by severe and recurrent seizures that usually begin during the child’s first year of life. Beyond seizures, children with Dravet syndrome may also experience delayed speech, learning difficulties, and problems with movement and balance. Early recognition of the symptoms and regular follow-up with a pediatric neurologist can help manage seizures and significantly improve the child’s development. In this Dalili Medical article, we will explore the key signs of Dravet syndrome in children, how to recognize them, as well as its causes, best treatment options, and daily support strategies.

Is Dravet Syndrome Genetic?

In most cases, Dravet syndrome is not inherited. It usually results from a new, random genetic mutation that occurs in the child.

What is the First Sign in Infants?

The most common sign is seizures, which usually begin in the first year of life, often triggered by fever or certain vaccinations.

Do All Children Have the Same Symptoms?

No, symptoms vary from one child to another. However, most children experience frequent seizures along with delayed speech and motor development.

Is There a Cure for Dravet Syndrome?

Currently, there is no definitive cure. However, medications, surgery in rare cases, and sometimes specialized therapies like laser treatment may help control seizures and improve the child’s quality of life.

Can a Child Live a Normal Life?

With early diagnosis and continuous treatment, many children can live close to a normal life, especially if seizures are controlled and motor and speech skills are supported.

What Can Trigger Seizures?

Fever or high temperature
Certain foods or drinks (based on medical advice)
Extreme fatigue or lack of sleep

When Should I Seek Immediate Medical Help?

If a seizure lasts longer than 5 minutes or if seizures happen repeatedly
Loss of consciousness or breathing difficulties
Sudden weakness in movement or speech

Are Dravet Seizures Different from Regular Seizures?

Yes. Seizures in Dravet syndrome are usually longer, more frequent, and often linked to fever. They may involve body shaking or temporary loss of consciousness.

Does Dravet Syndrome Affect a Child’s Mental Development?

In most cases, children show delayed speech and learning difficulties, but with early intervention, physical therapy, and supportive education, significant improvement is possible.

Are Epilepsy Medications Harmful for Children?

Most epilepsy medications are safe for children. Doses are carefully adjusted according to the child’s age and weight. Doctors monitor side effects closely, and in most cases, the benefits far outweigh the risks.

Do Seizures Improve Over Time?

With continuous treatment and medical follow-up, some children may experience fewer seizures as they grow. However, in Dravet syndrome, lifelong monitoring is usually necessary.

Does Diet Play a Role in Managing Seizures?

In some cases, special diets like the ketogenic diet can help reduce seizures. But this should always be done under strict medical supervision.

Do Children with Dravet Syndrome Need Regular Follow-up?

Yes. Regular check-ups are essential with:

A pediatric neurologist
An ophthalmologist
Sometimes developmental specialists to assess speech, movement, and cognitive growth

Dravet Syndrome in Infants and Children

Dravet syndrome is a rare and severe form of epilepsy that begins in infancy or early childhood. It belongs to a group of conditions known as developmental and epileptic encephalopathies (DEE). It is characterized by:

Seizures that are often drug-resistant
Significant delays in motor and cognitive development

Types of Dravet Syndrome in Infants and Children

Classic Dravet Syndrome
- The most common type
- Usually begins in the first year with febrile seizures
- Seizures vary (generalized, hemiclonic, sometimes myoclonic)
- Over time, developmental and behavioral delays appear
Early-Onset Dravet Syndrome
- Seizures appear within the first 6 months of life
- Often long-lasting febrile seizures triggered by mild fever
- Children require urgent medical care to control early seizures
Atypical/Partial Dravet Syndrome
- Seizures are less frequent or less severe
- Some children may not show significant developmental delay
- More difficult to diagnose, as it can resemble typical childhood epilepsy
Gene-Related Dravet Syndrome
- Less common, linked to rare genes like SCN1B or PCDH19
- Seizures resemble the classic type but may vary in severity and developmental impact
- More common in girls with PCDH19-related Dravet

Stages of Dravet Syndrome

Stage 1: Infancy (0–12 months)

Onset of prolonged febrile seizures, often with mild fever
Seizures may be focal or generalized, lasting several minutes
Early development appears normal, making diagnosis difficult

Stage 2: Early Childhood (1–5 years)

Seizure types expand: myoclonic, tonic-clonic, and absence seizures
Seizures become more frequent and harder to control
Developmental delays in movement and cognition become evident
Behavioral issues like hyperactivity may appear

Stage 3: Late Childhood (5–10 years)

Seizures usually persist but may improve in some children with treatment
Learning and concentration difficulties become more noticeable
Motor and balance problems often continue
Some children develop anxiety or behavioral challenges due to the chronic condition

Stage 4: Adolescence (>10 years)

Seizures may decrease or persist depending on the severity of the condition and treatment.
Most neurological and behavioral complications are apparent and require ongoing monitoring.
Children need educational support and assistance in adapting to daily life.

Symptoms of Dravet Syndrome in Children

Dravet syndrome causes various types of seizures, usually starting in infancy between 6–12 months. Seizures vary in severity and type and may include:

Common Seizure Types

Tonic-Clonic (Grand Mal) Seizures
- Affect the entire brain
- Begin with sudden loss of consciousness, followed by body stiffness and convulsions
Hemiclonic Seizures
- Cause shaking on one side of the body
- Often triggered by fever
- Seizures evolve over time and are often difficult to treat

Additional Complications During Childhood

Prolonged and frequent seizures
Developmental delays and intellectual disability
Autism spectrum disorder
Behavioral problems
Motor and balance issues
Sleep and feeding problems
Sensory processing difficulties (vision, hearing, touch, taste, smell)
Autonomic nervous system dysfunction (breathing, heart rate, blood pressure)

Who is Most at Risk?

Infants and Young Children
- Symptoms usually start in the first year of life, sometimes after fever or vaccination
- Most children experience seizures before age one
Children with Genetic Mutations
- About 70–80% of cases are linked to SCN1A gene mutations
- Mutations affect sodium channels in the brain, increasing seizure susceptibility
Gender and Family Factors
- Dravet affects boys and girls equally
- Most cases result from a de novo mutation (first occurrence in the family)

Causes of Dravet Syndrome in Children

Dravet syndrome is usually genetic, with rare exceptions:

SCN1A Gene Mutation
- Most common cause (70–80% of cases)
- Regulates sodium channels in neurons
- Mutation leads to abnormal nerve function and increased seizure risk
- Usually a de novo mutation
Other Rare Gene Mutations
- Can involve SCN1B, GABRA1, or PCDH19
- Affect neural balance and brain electrical activity
No Direct Environmental or Lifestyle Causes
- Not inherited from parents
- No evidence that maternal diet or environment causes Dravet syndrome

Risks and Complications of Dravet Syndrome

Without prompt management, Dravet syndrome can affect the brain and body:

Persistent Seizures ⚡
- Often fever-related and prolonged
- Difficult to control with medications
- Can cause permanent brain damage if untreated
Delayed Neurological and Motor Development
- Learning and attention difficulties
- Delayed speech and motor skills
- Balance and walking problems in some children
Behavioral and Emotional Issues
- Difficulty with focus and attention
- Mood swings, hyperactivity, anxiety, or depression in older children
Seizure-Related Health Risks
- Injuries from falls during seizures
- Recurrent fever may affect heart or lungs
- Rare but serious risk: Sudden Unexpected Death in Epilepsy (SUDEP)
Long-Term Impact
- Some children require ongoing learning or daily living support
- Family quality of life affected by continuous monitoring and treatment

Diagnosing Dravet Syndrome in Infants and Children

Diagnosis requires precision because symptoms may resemble other types of epilepsy. Early diagnosis is critical to reduce complications:

Medical History and Clinical Examination
- Ask parents about first seizures, often fever-related before age one
- Assess motor and cognitive development
- Complete neurological exam to evaluate strength, balance, and movement
EEG (Electroencephalogram) ⚡
- Records brain electrical activity to identify seizure type and location
- May be normal initially, but abnormal activity appears over time
Genetic Testing
- SCN1A gene testing is common for most cases
- Confirms diagnosis and distinguishes from other epilepsy types
Additional Tests
- Brain MRI: usually normal early, used to exclude other brain issues
- Blood tests: to rule out secondary causes of seizures, such as infections or fever

Treating Dravet Syndrome in Infants and Children with Medications

While Dravet seizures are hard to control, medications help reduce seizures and prevent complications. They do not treat the underlying genetic cause:

Main Antiepileptic Drugs ⚡
- Valproate (Sodium Valproate): reduces various types of seizures
- Clobazam: used in combination with other medications
- Stiripentol: added for children over 2 years with frequent seizures
- ❌ Some common antiepileptics (Phenytoin, Carbamazepine) may worsen seizures
Supportive Medications
- Pain relief or sleep aids if the child has additional issues
- Medications to manage hyperactivity or movement problems as needed
Important Notes
- Dosages tailored to age, weight, and seizure type
- Regular follow-up to adjust dosage and monitor side effects
- Medication is part of a comprehensive plan including trigger avoidance, growth monitoring, and family support

Surgery and Laser Therapy for Dravet Syndrome

Surgery or laser treatment does not fix the genetic cause but is used in specific cases:

Neurosurgery
- For children with drug-resistant seizures
- May involve:
  - Cortical Resection: removing brain area generating seizures
  - Vagus Nerve Stimulation (VNS): implanting device to reduce seizure frequency
  - Deep Brain Stimulation (DBS): very rare, for severe cases
- Goal: reduce seizures and improve quality of life
Laser Therapy
- Used for seizure-related or medication-related skin complications
- Does not reduce seizures but improves appearance and comfort
Post-Surgery/Laser Notes
- Continuous follow-up with a pediatric neurologist
- Children usually continue medications after surgery
- Psychological and educational support is crucial for learning or behavioral issues

Tips for Managing Dravet Syndrome in Infants and Children

Daily management requires patience, organization, and medical support:

Regular Medical Follow-Up
- Adhere to appointments with the neurologist
- Review medications regularly
- Monitor cognitive and motor development with therapists
Seizure Monitoring ⚡
- Record each seizure: time, duration, type, before/after events
- Inform doctor immediately of changes
- Never leave child alone during a seizure to prevent injuries
Safe Home Environment
- Remove sharp or dangerous objects
- Use padded furniture
- Supervise during bathing or swimming
Nutrition and Sleep
- Balanced diet to support growth and development
- Ensure sufficient and regular sleep
- Avoid seizure triggers like certain foods or exhaustion
Emotional and Psychological Support
- Build the child’s confidence
- Encourage social interaction and play
- Engage family and school for a supportive environment
Education and Development
- Collaborate with schools for an individualized learning plan
- Monitor learning or attention issues with specialists
- Provide activities for motor and speech development
Emergency Preparedness
- Recognize severe seizure signs: breathing stops, prolonged loss of consciousness, difficulty moving or speaking
- Keep emergency numbers and nearest equipped hospital ready