HCP Resources for Patients with Dravet

Could it be Dravet Syndrome in Children?

Dravet syndrome is a medication-resistant developmental and epileptic encephalopathy that usually onsets in the first year of life and proceeds with accumulating symptom burden that significantly impacts individuals throughout their lifetime. Dravet syndrome (previously known as Severe Myoclonic Epilepsy of Infancy or SMEI) is a rare disease, with an estimated incidence rate of 1:15,700. The majority of patients carry a mutation in the sodium channel gene SCN1A. While the presentation and severity of symptoms may vary, patients generally suffer with multiple comorbidities in addition to seizures, including but not limited to cognitive disabilities, behavioral challenges, decreased mobility, sleep issues, and gastrointestinal issues. A small number of patients (less than 10%) may have a family history of febrile seizures or seizure disorders.

 Tragically, a large number of children are not receiving an early diagnosis which could have a dramatic impact on long term development and quality of life. The study concluded that genetic testing should be considered in children with 2 or more prolonged seizures by 1 year of age.

Genetic testing should be considered for any of the following:

• 2 or more prolonged seizures by 1 year of age
• 1 prolonged seizure and any hemi-clonic seizure by 1 year of age
• 2 seizures of any length that seem to affect alternating sides of the body
• History of seizures prior to 18 months of age and later emergence of myoclonic and/or absence seizures

A child may have Dravet syndrome without meeting the above criteria, as there are many additional symptoms and presentations that could indicate Dravet syndrome. Individuals with Dravet syndrome are often misdiagnosed with another seizure disorder (such as Lennox-Gastaut syndrome) or given a broad diagnosis of intractable epilepsy because infants with Dravet syndrome are initially developmentally on track with no delays until the second year of life. A correct and early diagnosis can have positive, long-lasting effects on the overall development of an individual with Dravet syndrome. A diagnosis at ANY AGE can benefit the patient and often improve his or her quality of life.

Genetic Testing Resources:

• Invitae’s Behind the Seizure Program provides no-charge genetic testing (epilepsy panel) for patients in the US under the age of 8 years that have experienced at least one unprovoked seizure.
• Probably Genetic offers no-cost genetic testing (whole exome sequencing) for pediatric-onset epilepsy.
• GeneDx has an Epilepsy Partnership Program that can help with access to exome sequencing for patients under 18 years of age who have not yet received a genetic diagnosis.

It is with the help of our dedicated neurologists, epileptologists, neurosurgeons, and neuroscientists that our children have been diagnosed quicker and more efficiently to provide them with access to information on potential treatment options.

If you would like to order a box of complimentary patient educational materials for your office, please contact us.

Could it be Dravet Syndrome in Adults?

Dravet syndrome is a medication-resistant developmental and epileptic encephalopathy that usually onsets in the first year of life and proceeds with accumulating symptom burden that significantly impacts individuals throughout their lifetime. Dravet syndrome (previously known as Severe Myoclonic Epilepsy of Infancy or SMEI) is a rare disease, with an estimated incidence rate of 1:15,700. The majority of patients carry a mutation in the sodium channel gene SCN1A. While the presentation and severity of symptoms may vary, patients generally suffer with multiple comorbidities in addition to seizures, including but not limited to cognitive disabilities, behavioral challenges, decreased mobility, sleep issues, and gastrointestinal issues. A small number of patients (less than 10%) may have a family history of febrile seizures or seizure disorders.

Characteristics of Dravet syndrome often change or evolve in adulthood. A different therapeutic approach may be needed as the patient ages and new or increased care may be required. Seizure types often change and may decrease in frequency, however the majority of adult patients still experience regular seizures. Current treatment options are limited and the constant care required for someone suffering from Dravet syndrome can severely impact the patient’s and the caregiver’s quality of life. Studies on behavior problems are lacking for this population, but  a small number of clinical case reports as well as anecdotal reports from caregivers indicate that older patients may experience irritability, aggressiveness, and other behavioral problems that need to be addressed to keep the patient and caregiver safe. Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections. The risk of SUDEP continues in adulthood.

[ Download the Quick Guide to Adults and Transition of Care in Dravet Syndrome ]

Adults living with Dravet syndrome (DS) have complex medical needs and require comprehensive care and community support. Top community needs include:

• A correct diagnosis, at any age
• Knowledgeable adult neurologists who understand the complexities of care for older patients
• Pediatric-to-Adult Transition Clinics
• Comprehensive care for co-morbidities

DSF offers resources and information for families and healthcare professionals and seeks to better define and understand the adult patient experience and needs.