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What is Dravet Syndrome?

D. Jeffress
D. Jeffress

Dravet syndrome is a rare seizure disorder that affects infants and very young children. It is characterized by severe, frequent myoclonic seizures, during which an infant's muscles twitch and jerk uncontrollably. Epileptic episodes tend to become less frequent over the years, though sufferers may experience occasional problems well into adolescence and adulthood. Seizures early in life can significantly impair a child's ability to learn, speak, and develop normally, and many patients require lifelong support from personal caregivers.

It is unclear exactly what triggers the development of Dravet syndrome in most cases. Research suggests that some infants may be predisposed to developing seizure disorders because of specific genetic mutations. The condition is likely not inherited, but rather the result of a new mutation occurring during gestation. Environmental factors, such as exposure to toxins in the womb and poor nutrition, may also contribute to the likelihood of developing Dravet syndrome.

Anatomical model of the human body
Anatomical model of the human body

Symptoms of Dravet syndrome tend to appear in the first year of life, and infants are most likely to experience their first seizures when they are running high fevers. The first few episodes are often the severest, involving unpredictable muscle contractions throughout the body that can last for several seconds. Between the ages of one and four, sufferers tend to have less serious episodes. The myoclonic seizures experienced by young children are characterized by one or more muscle groups, such as the muscles of each arm, suddenly jerking and returning to normal. Individual muscle jerks usually last less than one second, though a patient can experience multiple seizures in a short period of time.

Most children who have Dravet syndrome also experience some degree of cognitive impairment. For example, they may have trouble learning language and mastering fine motor skills at the same rate as their peers. The frequency of seizures usually drops off after the age of five, but patients can still have major learning disabilities throughout their childhoods. They may also exhibit symptoms of autism, such as a lack of empathy and a preoccupation with very specific objects.

There are currently no reliable medical treatments for Dravet syndrome. Anticonvulsant drugs that are commonly prescribed for other types of seizure disorders are usually not very effective. Parents and caregivers are given strict instructions for maintaining an appropriate diet and avoiding certain medications that may aggravate symptoms. Depending on the severity of a patient's condition, he or she may need around-the-clock care for many years. Ongoing counseling, special education programs, and family support can help many sufferers eventually become functional members of society.

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      Anatomical model of the human body