Dravet Syndrome Awareness Day 2023 – What is Dravet Syndrome?

This Friday, the 23rd of June 2023 is Dravet Syndrome Awareness Day. A day in the year where charities, families and organisations across the world spread awareness of the condition and how it affects the lives of children and adults.

What is Dravet Syndrome?

Dravet Syndrome is a devastating neurological condition that causes severe and difficult-to-control epilepsy, intellectual disability and a range of associated conditions called ‘comorbidities’. These can include autism, ADHD, challenging behaviour and difficulties with speech, mobility, eating and sleep.

Sadly, Dravet Syndrome brings with it an increased risk of early death from SUDEP (Sudden Unexpected Death in Epilepsy), very prolonged seizures such as status epileptics, and other seizure-related injuries. Around 85% of children with Dravet Syndrome survive into adulthood; most adults with Dravet Syndrome have a good life expectancy.

What causes Dravet Syndrome?

Dravet Syndrome occurs when one of the genes in a part of the brain, known as the sodium ion channel, doesn’t function as it should. More than 85% of people with Dravet Syndrome have a mutation in the gene known as SCN1A. This is what causes the seizures, intellectual disability and spectrum of comorbidities that we see affecting people with Dravet Syndrome.

Dravet Syndrome is one of the most common genetic epilepsies. Around 1 in 15,000 babies in the UK will be born with Dravet Syndrome.

How does Dravet Syndrome impact families?

The impact on families is huge. Dravet Syndrome is a life-changing condition. Due to potentially life-threatening seizures, the intellectual disability and other conditions caused by Dravet Syndrome, children and adults will need 24/7 care for life.

But there is hope for families. Diagnosing the condition is the first step to being able to improve life for their child or adult with Dravet Syndrome and the entire family.

Why is diagnosis important?

Timely diagnosis is critical. It means there is a better chance of children and adults receiving the right medications to treat Dravet Syndrome which will hopefully lead to better seizure control, and reduce the risks of premature mortality, such as SUDEP. It’s never too late to benefit from a diagnosis, including in later adulthood.

A diagnosis will also make it easier to access additional therapies to help with comorbidities, and for families to access practical, emotional and financial support, including from DSUK.

How to diagnose Dravet Syndrome?

Dravet Syndrome is first and foremost a clinical diagnosis, meaning it can be identified through typical symptoms and characteristics. A genetic test for the SCN1A gene mutation (available via the NHS in the UK) is also recommended to help confirm diagnosis.

A seizure in an otherwise healthy baby is the first sign of Dravet Syndrome. The first seizures typically occur between 3 and 9 months of age with an average of 6 months old. Rare cases can happen as early as one month of age, or as late as 20 months. The first seizure can often be dismissed as a one-off (febrile seizures are common in childhood), but in Dravet Syndrome seizures become more frequent and persistent.

Seizures continue to occur throughout childhood and into adulthood. Seizure can be unpredictable and the types and patterns of seizures can change (for example, frequently occurring at night-time).

Seizures are just one aspect of Dravet Syndrome. Over time, usually by 2 or 3 years old, a developmental delay becomes noticeable. By the time they reach adulthood, around 80% live with moderate to severe intellectual disability. Other comorbidities emerge in early childhood and continue to evolve throughout life.

More information on signs and symptoms of Dravet Syndrome can be found in our diagnosis guide – follow the links below.