Diagnosis
Dravet syndrome was previously diagnosed clinically based on the child’s age of seizure onset, seizure history, neuroimaging, and EEG results. In up to 80% of cases, Dravet syndrome is caused by a mutation in the SCN1A gene. Genetic testing is now commercially available in most countries. Upon receiving a positive test result, parents are also tested to establish inheritance.
Suggestions for Newly Diagnosed
Treatment
Unfortunately, there is no set treatment protocol for Dravet syndrome. Treatments that have been shown to be useful for chronic seizure management in Dravet syndrome include benzodiazepines (diazepam, clonazepam, clobazam), topirimate (Topamax), and valproic acid (Depakote, Depakene). Stiripentol (Diacomit) has been show to have efficacy in some Dravet patients when used in conjuncture with other AEDs, typically valproic acid and clobazam. Stiripentol currently has Orphan Drug Status in the U.S., but not full FDA-approval, sometimes making insurance coverage difficult.
Other treatments and therapies have shown positive results in the overall care and management of Dravet syndrome in some patients, even though they have not been fully studied. These include IVIG and the VNS. Families have also reported that the ketogenic diet has also shown to be beneficial with both seizure management and cognition.
Care should be taken in avoiding AEDs which are contraindicated in the treatment of Dravet syndrome, due to their interaction with the sodium ion channel. AEDs which should be avoided include carbamazepine (Tegretol), lamotrigine (Lamictal), and vigabatrin (Sabril), which can cause or increase seizure activity. Phenytoin (Dilantin) may be used acutely in managing status seizure episodes but is generally not helpful in chronic management and may increase seizure activity.
It is important to design and implement an emergency protocol with your neurologist, including a fast onset benzodiazepine such as Diastat, nasal versed, or lorazepam, for any convulsive seizure lasting longer than 5 minutes. It is helpful to have a written copy of this protocol with the child at all times, in case of emergency. This protocol should include instructions on seizure treatment and when to call for emergency services, as well as parent and physican contact information.
Avoid seizure triggers whenever possible. Common triggers include rapid changes in environmental and/or body temperature, illness, stress, overexcitement, patterns, and flickering lights. Fevers should always be treated aggressively with a plan established with your pediatrician and/or neurologist.
Additional medical equipment that has been found by families to be useful in the day-to-day management of Dravet syndrome includes video monitoring, protective helmets, cooling vests, pulse oximeters, seizure alarms, and glasses with colored lenses (for photosensitivity).