Dravet Syndrome is a neurological condition with severe, drug resistant epilespy
Dravet Syndrome begins in infancy with frequent and/or prolonged seizures. It has an estimated incidence of 1:20,000. Dravet Syndrome was previously known as Severe Myoclonic Epilepsy of Infancy (SMEI) and approximately 80% of those affected have a mutation in their SCN1A gene.
Dravet Syndrome is a lifelong condition and can affect all aspects of life. Every child or adult with Dravet Syndrome is different, with some more severely affected than others. As well as prolonged and/or frequent seizures, common issues include intellectual disability, movement and balance issues, speech and language delays, sleeping difficulties, sensory integration disorders, growth and nutrition issues, behavioural issues and dysautonomia.
Children with Dravet Syndrome often develop different types of seizures over time.
Current treatment options for Dravet Syndrome are limited, with focus on seizure control.
Diagnosing Dravet Syndrome
Dravet Syndrome is first and foremost a clinical diagnosis, based on the evolution of specific types of seizures.
Children with Dravet syndrome typically have normal developmental progress in the first years of life. Often seizures first begin while associated with fever or febrile illness. These are typically prolonged, lasting 20 minutes or more, involving rhythmic shaking of one side of the body.
Children often develop different seizure types over time. Epilepsy in Dravet Syndrome is usually difficult to fully control with medication. Affected children may have repeated episodes of status epilepticus, prolonged seizures which are difficult to stop and require hospitalization.
Specific Tests
Genetic testing: While Dravet syndrome is largely a clinical diagnosis, a high percentage of people with the syndrome test positive for abnormality in a specific gene, the SCN1A gene. So this gene defect is often a helpful means of confirming the diagnosis. Some other genes have also been implicated.
Other investigations:
•A Brain MRI scan is usually normal in children presenting with this condition.
•An EEG (recording of electrical activity of the brain) will usually show abnormalities which confirm a tendency to epileptic seizures.
Receiving a diagnosis
Receiving a diagnosis of Dravet Syndrome or other severe genetic epilepsy for your child can be a very difficult and overwhelming time. If you would like to chat to another parent who has been through this process please contact us and we will arrange a call.
As parents of children with a diagnosis ourselves, we have found contact with other families invaluable at times.
We have a private Facebook support group for parents and caregivers. Find out more here.