Dravet syndrome is a rare and severe form of epilepsy that begins in infancy. Children with Dravet syndrome experience frequent and prolonged seizures, ranging in type and duration. Genetic mutations affect sodium channel function in the brain, causing Dravet syndrome. It is possible for these seizures to be resistant to common epilepsy medications. There are many symptoms associated with the condition, such as developmental and cognitive delays, as well as balance problems, behavioral problems, and infections.
Dravet syndrome is thought to be caused by a defect in the function of the sodium channels, which regulate electrical signals in the brain. Sodium channels are encoded by the SCN1A gene, which can have over 6,000 places for mutations to occur. Dravet syndrome is mostly caused by mutations in the SCN1A gene that are not inherited from the parents. Only 10% of mutations are inherited from a parent who carries the defective gene.
As a first symptom of Dravet syndrome, seizures usually occur in the first year of life, often triggered by fevers or infections. Seizures may include jerking movements on one side of the body, and they may last for more than five minutes. There are many types of seizures that may occur after the first seizure, including:
Myoclonic seizures, which cause brief muscle twitches or jerks
Tonic-clonic seizures, which cause stiffening and shaking of the body, and may result in loss of consciousness
Non-convulsive seizures, which cause changes in awareness, behavior, or emotions, and may be difficult to recognize
Seizures in Dravet syndrome are often frequent and severe, and may be triggered by factors such as:
Bright or flashing lights
Changes in body temperature
Illness or stress
Lack of sleep
Certain medications
Besides seizures, Dravet syndrome also causes other symptoms that affect the development and function of the brain and body, such as:
Developmental delays, especially in speech and language skills
Cognitive impairment, ranging from mild to severe intellectual disability
Behavioral problems, such as irritability, aggression, hyperactivity, or autism-like features
Ataxia, or balance and coordination problems, resulting in a crouched gait and frequent falls
Motor impairment, such as low muscle tone, weakness, or spasticity
Infections, due to a weakened immune system and increased susceptibility to respiratory and ear infections
Sweating and temperature regulation abnormalities, due to dysfunction of the autonomic nervous system, which controls involuntary functions such as heart rate, blood pressure, and digestion
Bone problems, such as osteoporosis, fractures, or scoliosis, due to reduced bone density and quality
An accurate diagnosis of Dravet syndrome is based on a physician's clinical evaluation, which includes a detailed medical history, physical examination, and neurological examination. Diagnostic tests can include:
Electroencephalogram (EEG), which measures the electrical activity of the brain and can detect abnormal patterns or spikes that indicate seizures
Magnetic resonance imaging (MRI), which produces detailed images of the brain and can rule out other causes of seizures, such as tumors, strokes, or infections
Genetic testing, which can identify mutations in the SCN1A gene or other genes that may be associated with Dravet syndrome
Despite the fact that Dravet syndrome cannot be cured, antiseizure medications and supportive care can be used to manage the condition. This treatment aims to reduce the frequency and severity of seizures, prevent complications, and improve the quality of life for the child and his or her family.
In Dravet syndrome, many of the commonly used antiseizure medications are not effective or may worsen seizures. They control seizures by stabilizing brain electrical activity. It is therefore necessary to tailor the choice and dosage of medications to each child individually, and frequent adjustments may be necessary. There are several antiseizure medications that have been shown to help with Dravet syndrome, including:
Stiripentol, which is a drug that enhances the effect of other antiseizure medications, such as clobazam and valproate
Cannabidiol, which is a compound derived from the cannabis plant that has antiseizure and anti-inflammatory properties
Fenfluramine, which is a drug that modulates the activity of serotonin, a neurotransmitter that regulates mood, sleep, and appetite
Topiramate, which is a drug that blocks sodium channels and other targets that are involved in seizure generation
Levetiracetam, which is a drug that binds to a protein that regulates the release of neurotransmitters in the brain
Supportive care, which includes interventions that help address the non-seizure symptoms and complications of Dravet syndrome, such as:
Physical therapy, which helps improve muscle strength, flexibility, and coordination, and prevent contractures and deformities
Occupational therapy, which helps develop fine motor skills, such as grasping, writing, and dressing
Speech therapy, which helps improve communication and language skills, and address swallowing difficulties
Special education, which helps provide individualized learning and behavioral support, and accommodate the child’s cognitive and developmental needs
Psychological counseling, which helps cope with the emotional and social challenges of living with Dravet syndrome, and provide guidance and resources for the family and caregivers
The ketogenic diet is a high-fat, low-carbohydrate diet that mimics the metabolic state of starvation and may reduce seizures in some children with Dravet syndrome. Nutrition counseling helps ensure adequate intake of calories, vitamins, and minerals, as well as avoid dietary triggers of seizures.
Immunizations, which help prevent infections that may trigger seizures or worsen the condition
Medications, which help treat infections, pain, fever, or other conditions that may affect the child’s health and well-being
Dravet syndrome cannot be prevented, as it is caused by genetic mutations that occur randomly or are inherited from a parent. However, some measures can be taken to reduce the risk of seizures and complications, such as:
Avoiding seizure triggers, such as bright or flashing lights, changes in body temperature, illness or stress, lack of sleep, or certain medications
Wearing protective gear, such as helmets, pads, or braces, to prevent injuries from falls or seizures
Using seizure alarms, monitors, or devices, to alert caregivers or emergency services in case of a seizure
Having a seizure action plan, which outlines the steps to take in case of a seizure, such as administering rescue medications, calling for help, or seeking medical attention
Seeking regular follow-up care, which involves monitoring the child’s growth, development, seizure frequency and severity, medication effects and side effects, and overall health and well-being
Epilepsy with Dravet syndrome is a rare and severe condition that begins in childhood and causes frequent and prolonged seizures, as well as developmental delays and cognitive impairments. The diagnosis is based on a clinical evaluation and can be confirmed by diagnostic tests. Genetic mutations affect the function of sodium channels in the brain, leading to this condition. It is intended to reduce seizures, prevent complications, and improve quality of life by combining antiseizure medications with supportive care. Although Dravet syndrome cannot be prevented, it can be reduced by avoiding seizure triggers, wearing protective gear, using seizure alarms, creating a seizure action plan, and seeking regular follow-up care.
