Dravet Syndrome: Signs, Medications, Outlook, and Additional Information
Dravet syndrome is a rare and challenging form of epilepsy that typically begins in the first year of a child's life. This condition, which affects approximately 1 in 16,000 infants in the United States, is characterised by seizures, developmental delays, and cognitive abnormalities.
The primary genetic marker for Dravet syndrome is a mutation in the SCN1A gene, which encodes a voltage-gated sodium channel alpha subunit. About 70-80% of individuals with Dravet syndrome have this mutation, leading to loss of function of NaV1.1 protein and neuronal excitability imbalance.
However, around 15% of patients meeting the clinical diagnostic criteria for Dravet syndrome do not have detectable SCN1A mutations, suggesting that other genes, such as GABAA receptor subunits, may be implicated in some cases.
Most individuals with Dravet syndrome start to have seizures at the age of 6 months to 1 year. The seizures can vary in type, including focal seizures, myoclonic seizures, atypical absence seizures, tonic-clonic seizures, and seizures triggered by stress, excitement, seeing flashing lights, or having a rapid change in body temperature.
Dravet syndrome can be challenging for doctors to diagnose, and a doctor generally uses a family history of seizures or febrile seizures, "normal" development before the onset of seizures, an EEG test with generalised spike and polyspike waves, focal abnormalities or early photosensitivity, psychomotor delays after the age of 24 months, ataxia, and other factors to make a diagnosis.
Individuals with Dravet syndrome may experience developmental delays or difficulty learning and talking, hypotonia (a lack of muscle tone), ataxia (a disorder that affects coordination and balance), and behavioural disturbances related to autism, attention deficit hyperactivity disorder, irritability, and aggression.
Adults with Dravet syndrome typically require the assistance of a caretaker to help with day-to-day activities. The frequency of seizures in individuals with Dravet syndrome becomes less frequent as they reach adulthood, but they typically still have developmental and motor disabilities.
In 2020, Lorcaserin, previously an obesity treatment, was also approved for use in treatment-resistant children with Dravet syndrome. In 2018, the Food and Drug Administration (FDA) approved a new drug called Epidolex, containing cannabidiol, to treat seizures associated with Dravet syndrome.
Common treatments for developmental delays in individuals with Dravet syndrome include occupational and physical therapy. The ketogenic diet, which is high in fat and low in carbohydrates, may also help individuals with Dravet syndrome. A vagus nerve stimulator may help reduce seizure frequency in people with Dravet syndrome.
Dravet syndrome appears to affect males twice as often as it affects females. The average life expectancy of people with Dravet syndrome is not clear, but estimates suggest that many individuals with Dravet syndrome do not survive beyond the age of 10, with sudden unexpected death in epilepsy (SUDEP) being the most common cause.
It's important for people with Dravet syndrome to avoid seizure triggers like hot baths, jacuzzies, and flashing lights. Avoiding these triggers can help manage the condition and improve the quality of life for individuals with Dravet syndrome.
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- Therapies and treatments like Lorcaserin and Epidolex (containing cannabidiol or CBD) are being developed to help manage epilepsy seizures and other chronic conditions.
- Common treatments for addressing developmental delays in individuals with various medical conditions include occupational and physical therapy.
- The ketogenic diet, which is high in fat and low in carbohydrates, can be beneficial in managing epilepsy seizures and other conditions.
- A vagus nerve stimulator can help reduce seizure frequency in people with epilepsy, including those with Dravet syndrome.
- Women's health covers a broad spectrum, from reproductive health to breast cancer screenings and menopause management.
- Parenting resources are available to support individuals in caring for those with medical conditions such as Dravet syndrome.
- Multiple sclerosis, like Dravet syndrome, can impact developmental milestones and require lifelong care and support.
- Possible causes of sudden death in epilepsy (SUDEP) should be discussed and preventive measures taken to improve the life expectancy of those with conditions like Dravet syndrome.
