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Advances in Robotics & Automation

ISSN: 2168-9695

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Dravet Syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever.[1] It is very difficult to treat with anticonvulsant medications. It often begins before 1 year of age

Seizures in Dravet syndrome can be difficult to manage but may be reduced by anticonvulsant medications such as clobazam, stiripentol, topiramate and valproate.[13] Because the course of the disorder varies from individual to individual, treatment protocols may vary. A diet high in fats and low in carbohydrates may also be beneficial, known as a ketogenic diet. Although diet adjustment can help, it does not eliminate the symptoms. Until a better form of treatment or cure is discovered, those with this disease will have myoclonic epilepsy for the rest of their lives.[4]

Certain anticonvulsant medications that are classed as sodium channel blockers are now known to make seizures worse in most Dravet patients. These medications include carbamazepine, gabapentin, lamotrigine, and phenytoin.[14][15]

Treatments include cognitive rehabilitation through psychomotor and speech therapy.[3] In addition, valproate is often administered to prevent recurrence of febrile seizures and a benzodiazepine is used for long lasting seizures, but these treatments are usually insufficient.[16]

Stiripentol was the only medication for which a double-blind placebo-controlled randomized controlled trial was performed and this medication showed efficacy in trials.[16] It acts as a GABAergic agent and as a positive allosteric modulator of GABAA receptor.[16] Stiripentol, can improve focal refractory epilepsy, as well as Dravet's syndrome, supplemented with clobazam and valproate was approved in Europe in 2007 as a therapy for Dravet syndrome and has been found to reduce overall seizure rate by 70%.[16] In cases with more drug-resistant seizures, topiramate and the ketogenic diet are used as alternative treatments.[16][17]

Cannabidiol (CBD) was approved in United States for treatment of Dravet syndrome in 2018.[18] A 2017 study showed that the frequency of seizures per month decreased from 12 to 6 with the use of cannabidiol, compared with a decrease from 15 to 14 with placebo

 

Onset of seizures in the first year of life in an otherwise healthy infant Initial seizures are typically prolonged and are generalized or unilateral Presence of other seizure types (i.e. myoclonic seizures) Seizures associated with fever due to illness or vaccinations Seizures induced by prolonged exposure to warm temperatures Seizures in response to strong lighting or certain visual patterns Initially normal EEGs and later EEGs with slowing and severe generalized polyspikes Normal initial development followed by slow development during the first few years of life Some degree of hypotonia Unstable gait and balance issues Ankle pronation and flat feet and/or development of a crouched gait with age

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