HCP Resources for Patients with Dravet

Could it be Dravet Syndrome in Children?

Dravet syndrome is a rare genetic condition whose course is variable from patient to patient. Most individuals with Dravet syndrome have prolonged seizures, often febrile, including status epilepticus before age one, along with multiple seizure types that are resistant to treatment; developmental delays; lowered immunity; orthopedic concerns; and hyperactivity. Some, but not all patients have a family history of febrile seizures or seizure disorders.

A recent U.S. epidemiology study concluded that Dravet syndrome is twice as common as previously recognized, affecting 1:15,700 infants, 80% of whom have an SCN1A mutation [1]. 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 via an epilepsy panel 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.

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 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, 80% of whom have a mutation in their SCN1A gene. Adult patients suffer multiple co-mordities in addition to the seizures, including but not limited to cognitive disabilities, behavioral challenges, decreased mobility, sleep issues, and gastrointestinal issues.

Characteristics of Dravet syndrome often change 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. Studies on behavior problems are lacking for this population, but anecdotal reports from caregivers tell us that older patients may experience irritability, aggressiveness, and other behavioral problems that need to be addressed to keep the patient and caregiver safe. 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. 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.

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.