Dravet Syndrome
What Is Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy)?
Dravet Syndrome (DS), also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy. It is a chronic neurodevelopmental condition of the childhood that typically begins with prolonged and/or multiple seizures before a child reaches one year of age, and is often associated with cognitive impairment and motor dysfunction.
The syndrome is often identified early as it commonly presents itself in the first year of life as a febrile seizure. All subtypes of seizures may be observed including tonic, clonic, atonic, focal, and/or myoclonic seizures. People with Dravet Syndrome generally require multiple anticonvulsive medications and specialized care to manage their seizures. While some children may outgrow certain seizure types, the disorder invariably persists throughout life and is characterized by various degrees of physical and cognitive disability. There is no known cure for Dravet Syndrome.
Symptoms of Dravet Syndrome
People with Dravet Syndrome may experience the following symptoms:
- Fever-related seizures that begin in the first year of life
- Frequent, prolonged, and/or multiple seizures that can last up to several minutes
- Developmental delays
- Cognitive impairment
- Motor dysfunction
- A variety of seizure types including tonic, clonic, atonic, focal, and/or myoclonic seizures
- Sleep disturbances
- Gastrointestinal problems
- Behavioral issues
- Neurological and orthopedic problems
Causes of Dravet Syndrome
current findings point to SCN1A gene mutations as the cause of most cases of Dravet Syndrome, though other genes and environmental factors may contribute to the condition. Dravet syndrome usually results from a change in a single gene called SCN1A, which makes a protein called NaV1.1 in the brain and nervous system.
Diagnosis of Dravet Syndrome
Dravet Syndrome is usually diagnosed based on the medical history, seizure characteristics, and results of genetic testing. A healthcare provider may recommend that your child get a blood test to screen for the SCN1A gene mutation or other genetic conditions associated with Dravet Syndrome. Other tests such as MRI scans and electroencephalograms (EEGs) may also be ordered.
Treatment for Dravet Syndrome
While there is no cure for Dravet Syndrome, there are treatments that can help control seizures and manage the symptoms. Treatment plans typically involve the use of medications to control seizures and other therapeutic interventions such as specialized diets, physical therapy, occupational therapy, and behavioral therapy. In addition, there are lifestyle changes that a person living with Dravet Syndrome can make to help manage the condition, such as getting enough sleep, avoiding certain triggers, and staying active.