What is the life expectancy of a child with Dravet syndrome?
The average life expectancy of people with Dravet syndrome is not clear, but estimates suggest that 10–20% of individuals with Dravet syndrome do not survive beyond the age of 10. Sudden unexpected death in epilepsy (SUDEP) is the most common cause.
What are the symptoms of Dravet syndrome?
Dravet syndrome (DS) is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by high body temperature (hyperthermia), developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems.
What triggers Dravet syndrome?
Around 80-90% of Dravet syndrome cases are caused by mutations in the SCN1A gene. Hundreds of mutations in this gene have been identified that are linked to seizures caused by high fever. The SCN1A gene provides instructions to build a protein that forms a subunit of a sodium channel called NaV1.
Who is at risk for Dravet syndrome?
Who gets it? Reports suggest 1 in 20,000 to 1 in 40,000 people have Dravet syndrome. Three to 8% of children who have their first seizure by 12 months old may have Dravet syndrome.
Is Dravet syndrome terminal?
Dravet syndrome is a lifelong condition. Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. The U.S. Food and Drug Administration (FDA) has approved the drug fenfluramine to reduce the frequency of convulsive seizures with Dravet syndrome in people ages 2 years and older.
Does Dravet syndrome cause brain damage?
Dravet syndrome is a disease characterized by prolonged and frequent seizures that begin in the first year of life and are difficult to control with medication. These seizures are harmful to the developing brain and can cause cognitive and behavioral impairment in patients.
Can people with Dravet syndrome talk?
Children with Dravet syndrome may be slow in learning to speak; they may also show signs of aphasia (difficulty in comprehending or producing speech) or agnosia (inability to interpret sensory information, such as speech).
Is Dravet syndrome autism?
Before the onset of seizures, children with Dravet syndrome reach developmental milestones on time. However, with symptom onset, children exhibit developmental delays and features of autism spectrum disorder.
Can you outgrow Dravet syndrome?
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, over 80% of whom have a mutation in their SCN1A gene.
Is Dravet syndrome life threatening?
About 15% to 20% of people with Dravet syndrome die before adulthood. Up to 20% of individuals with Dravet syndrome usually die from sudden unexpected death in epilepsy (SUDEP), long-lasting seizures and seizure-related accidents and injuries such as drowning and infections.
Is Dravet syndrome a disability?
Dravet Syndrome is now one of the conditions that may qualify an individual for Social Security Disability claim processing under the SSA’s Compassionate Allowances guidelines.
Is Dravet syndrome hereditary?
Most cases of Dravet syndrome occur when the SCN1A gene is not working correctly. It can be inherited in an autosomal dominant pattern, but most people with Dravet syndrome do not have a family history of the condition. Diagnosis is based on a clinical exam, medical history, and the results of genetic testing.
How is Dravet syndrome diagnosed?
Diagnosis of Dravet syndrome
Electroencephalogram (EEG) and magnetic resonance imaging (MRI) test results are often normal when seizures first appear, which can sometimes delay diagnosis. When Dravet syndrome is suspected, genetic testing may be done to look for a pathogenic variant in the SCN1A gene.
What age does Dravet syndrome start?
Seizures, usually starting between the ages of 4 months and 12 months, are the first sign of Dravet syndrome. These first seizures often occur with a fever (called febrile seizures).