What to Do If You Suspect Dravet Syndrome

Key steps to take if you suspect someone in your care has Dravet Syndrome.

    (1) Check for signs and symptoms of Dravet Syndrome

    Dravet Syndrome is a clinical diagnosis, diagnosed from reported characteristics. For children, the first prolonged seizure typically happens between 3-9 months, with an average age of onset of 6 months. For adults, seizures may be less frequent but reviewing the information about their medical history can help you check for the characteristics of Dravet Syndrome. It’s important to do this as soon as you suspect Dravet Syndrome so the person with the condition can get on the path to the most appropriate treatment for them.

    (2) Refer for a genetic test

    Genetic testing has benefits at any age. The right diagnosis and treatment can reduce seizure and disease burden even in intractable adult patients. It is worth retesting someone for Dravet Syndrome if they received a negative test more than 5 years ago, as the accuracy of testing has improved. If negative, don’t rule out Dravet Syndrome if the patient fits the clinical diagnosis.

    If you’re doing the genetic test referral, ensure that caregivers receive genetic counselling at the same time. Genetic counselling helps explain what the test means, provides support with coping and adjusting to a diagnosis and, critically, can help caregivers understand whether the SCN1A genetic variation can be passed on or carried by other family members (in 90% of cases it is de novo).

    (3) Avoid prescribing sodium blocking medication

    In most cases, Dravet Syndrome is caused by a loss of function in the sodium channel gene, SCN1A. Therefore sodium channel blocking medication should be avoided, as these can make seizures worse and potentially affect intellectual development if prescribed for a long time. 

    Medicines to avoid include: lamotrigine, phenytoin, carbamazepine, oxcarbazepine, lacosamide and rufinamide.

    (4) Put emergency protocols in place and discuss SUDEP with caregivers 

      Those with Dravet Syndrome are at increased risk of premature death due to the frequency of status epilepticus and high rates of SUDEP. It’s vital to work with caregivers to implement emergency protocols. 

      Discussing SUDEP is also important; getting the right treatment in place and an effective seizure control plan can help reduce the risks of SUDEP. SUDEP needs to be discussed regularly and handled sensitively, so that families are aware of the risks and what they can do about potential triggers. We know that caregivers want to have the discussion: one in five (20%) carers of people with Dravet Syndrome told us that they want a great deal more information from their neurologist on the risks of SUDEP and how to manage them.

      For more information about SUDEP, please visit the SUDEP Action website.

      (5) Facilitate interdisciplinary management

      Dravet Syndrome causes cognitive developmental impairment – often severe. Multidisciplinary management is required in addition to drug treatment tailored to the specific needs of each patient. For example, in children, expressive and receptive language is often impaired; early intervention with speech therapy optimises potential. Ensure developmental assessments begin as early as possible and are repeated regularly. Adults also benefit from additional therapies; all too often these therapies can become difficult to access following transition from paediatric to adults services.

      Don't forget to signpost caregivers to Dravet Syndrome UK!

        Dravet Syndrome UK is a registered charity dedicated to improving the lives of those affected by this devastating condition. We provide emotional, practical, and financial support for families affected by Dravet Syndrome, as well as educating and funding research. When families register with us, they will receive a free comprehensive guide to living with Dravet Syndrome.