Dravet syndrome is a rare form of epilepsy found in infants that is caused by a genetic mutation. It typically begins in the first year of life and affects approximately 1 in 40,000 infants in the U.S.
Along with seizures, Dravet syndrome share common symptoms like, behavioral, cognitive dysregulation and mobility difficulties.
Dravet syndrome was previously known as severe myoclonic epilepsy and no known cure is sited.
Those with Dravet Syndrome need to get early treatment to minimize the frequency and severity of seizures.
It remains unclear as to the average life expectancy of those with Dravet syndrome and based upon estimates it is believed that 10-20% will not live beyond the age of 10.
According to neurologists, the most common cause for death from Dravet syndrome is from (SUDEP) or sudden unexpected death in epilepsy. Parents are recommended to follow a SUDEP risk reduction strategy by seizure detection and the use of baby monitoring devices.
Causes
Dravet syndrome appears to affect predominantly males than females, in about twice as many on average. Dravet syndrome develops initially from a genetic mutation of the egg, sperm or early embryo and not from a de novo variant or a child’s parent.
The mutated gene responsible is SCN1A in 70-80% of individuals with Dravet syndrome. This gene gives neurons or nerve cells in the brain instructions for creating the sodium channels through the flow of sodium ions used for communication. This breakdown of communication is thought to directly affect an unbalanced activation of GABA or Gamma-aminobutyric acid, the primary inhibitory neurotransmitter within the brain and central nervous system.
Main Symptoms
Dravet syndrome has symptoms that vary from each individual and can change as one ages.
The three most common symptoms are seizures, developmental delays and behavioral disturbances.
Seizures
Most seizures from Dravet syndrome begin from a fever in the ages of 5-8 months. Individuals can experience seizures from stress or becoming over excited, a rapid change of body temperature or strobing lights.
It is common that a baby develops a fever which triggers a seizure, or febrile seizure. This does not mean a baby has Dravet syndrome. Getting an accurate full examination by a doctor will rule out all possible causes.
Other type seizures that are typical in Dravet syndrome include:
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atypical absent seizures which can last 20 seconds or more from a lapse in consciousness.
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focal seizures are localized dysregulated activity in only certain areas of the brain.
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myoclonic seizures which affect the muscles of the upper torso or legs to move involuntarily.
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tonic-clonic seizures causing the entire body to twitch uncontrollably or become unconscious.
The triggers are commonly too much stress and being over stimulated, rapid change in internal body temperature and flashing lights.
Developmental Delays
It is common for parents to notice cognitive difficulties in terms of talking and delays in learning in infants from 1-2 years old. Delays in reaching the normal milestones in a timely manner when compared to other children of their age will become more apparent.
The tell tale signs will be noticed when the child first learns to walk when balance and coordination are put on display. This is known as ataxia.
Children with Dravet syndrome can have signs of hypotonia or lack of muscle tone at the age of 1.
Behavioral Disturbances commonly related to Dravet syndrome are ADHD, autism, aggression and irritability.
Diagnosis and Treatments
Doctors use a genetic test when determining if a person is likely to have Dravet syndrome.
Other tests and indicators followed by doctors for diagnosis are:
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ataxia
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EEG test to look for generalized spike and poly spike brain waves
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family history of all seizures and febrile seizures
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early age light sensitivity
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indications of normal developmental timelines prior to onset of seizures
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indications of psychomotor delays after 24 months of age
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having a seizure in a child’s first year, with other seizures types following
Treatment options include:
Avoiding triggers like flashing lights, hot baths, saunas and jacuzzies are all problematic for those with Dravet syndrome as they can bring about seizure activity.
Medication
The two most commonly given medication to prevent and lessen the severity of seizures in those with Dravet syndrome are anticonvulsants like, clobazam and valproic acid.
Other drugs used are Epidolex, which has been approved by the FDA in 2018 to treat Dravet syndrome along with fenfluramine in 2020.
Vagus Nerve Stimulation
This is a surgical procedure that involves the insertion of a small electrical device in the chest which sends electrical signals to and from the brain through the vagus nerve to help reduce seizure activity.
Therapeutic Treatments
Occupational and physical therapy along with neurofeedback are therapies used for the treatment of the developmental delays that are characteristic in Dravet syndrome patients.
EEG therapies like neurofeedback can help lessen seizures and restore normalcy of brain waves.
Diet
For many years research has shown that a ketogenic diet, one that is rich in good fats and low in carbohydrates can help in those with seizures. A ketogenic diet supports the strengthening of the central nervous system as it makes positive changes to the GABA levels in our brain.
Dravet syndrome is a rare form of epilepsy found in infants who’s condition leads to developmental disabilities in learning and muscle control. Early detection will lead to avoiding the triggers and receiving the right medication and supportive therapies like neurofeedback and physical therapy.
Although there is no cure for Dravet syndrome at this time, there are medications and therapies designed to manage the condition to give hope for a more normal, happy and productive life.
-A Balanced Brain is a Better Brain-