Dravet Syndrome
Children affected with Dravet syndrome, however, may develop severe disability leading to problems that affect their lifespan.

Dravet syndrome is a rare, severe, and lifelong form of epilepsy (seizure disorder). Most people affected by this condition have a good life expectancy. The disease typically starts in the first year of life, and around 80-85% of the children survive into adulthood. Children affected with Dravet syndrome, however, may develop severe disability leading to problems that affect their lifespan. Children with this syndrome are at a higher risk of dying due to sudden unexplained death in epilepsy (SUDEP) compared with those who have other forms of epilepsy.

What exactly is Dravet syndrome?

Dravet syndrome is a rare, severe, and lifelong form of epilepsy (seizure disorder) that causes frequent, prolonged seizures. The seizures are often triggered by health problems such as high body temperature (hyperthermia). They are often associated with developmental delay, speech impairment, incoordination (ataxia), low muscle tone (hypotonia), and sleep disturbances. The seizures begin in the first year of life and may become more frequent and with time. Seizures in Dravet syndrome are often difficult to manage with medications. Most patients with Dravet syndrome have a faulty gene called the SCN1A gene. Although the syndrome is often inherited, most patients do not have a family history of Dravet syndrome. Early diagnosis is important to reduce the frequency and length of the seizures. Doctors diagnose the syndrome thorough medical history, clinical examination, and genetic testing.

What are the symptoms of Dravet syndrome?

The symptoms of Dravet syndrome usually begin in infancy (first year of life). The average age for the onset of the first seizure is 5.2 months, although it can occur at any time between 1 and 18 months of age. A seizure is often triggered by high body temperature or fever. The type and frequency of seizures may vary from person to person. The severity and number of symptoms may also differ from person to person. The typical symptoms and signs include:

  • Seizures of different types and duration; they are characteristically prolonged and frequent
  • Developmental delay or loss of developmental skills
  • Myoclonus (sudden muscle jerking)
  • Intellectual disability
  • Difficulty in walking
  • Problems with balancing
  • Speech and language impairment
  • Frequent and long-term infections
  • Sleep disturbances
  • Hypotonia (poor muscle tone)
  • Autistic-like behavior (includes difficulty in social interaction, having repetitive and patterned movements, and lack of eye contact)

Is there a cure for Dravet syndrome?

Presently, there is no cure for Dravet syndrome. Treatment is primarily aimed at reducing the frequency and length of the seizures. Dravet syndrome is a spectrum disorder, which means that the patients present with varying signs and symptoms. The treatment is customized to suit the individual patient. Seizures in Dravet syndrome are usually difficult to manage. Multiple anti-seizure medications are often needed. Some medications that work in other forms of epilepsy, such as the sodium-channel agents, may make the seizures worse and must not be given to a person with Dravete syndrome. 

The FDA-approved medications for this syndrome are Epidiolex, Diacomit (stiripentol), and Fintepla.

Some medications are given as a “rescue treatment” to stop a seizure. They include drugs such as clonazepam, diazepam, lorazepam, and midazolam.

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Medically Reviewed on 10/15/2020
References
References:

https://www.dravetfoundation.org/what-is-dravet-syndrome/

https://rarediseases.org/rare-diseases/dravet-syndrome-spectrum/

https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome
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