What is Dravet Syndrome? Can we cure it?

Specialist: Dr. Wilfrid Casseron, Neurologist

Affects children from the first month of life, Dravet syndrome a Severe and severely disabled illness. It is manifested by regular epilepsy, significant developmental delays, and major learning disabilities. Explained by Dr. Wilfried Casseren, neurologist.

Definition of Dravet syndrome

“This particular syndrome was first described by Dr. Charlotte DravetIn the late 1970s, precisely in 1978, when it was confused with other pediatric epilepsy for a long time “, Dr. Caseron began. The main feature of this syndrome is the first convulsionsSevere epilepsy Associated with febrile convulsions in very young children.

“These are convulsions that start well before the age of one, usually when the child is sick and has a fever. He then presents Convulsions Fever, often associated with loss of consciousness. Parents usually consult at this time. Convulsions can occur frequently because Dravet syndrome weakens Children Those who are often sick, Dr. Caceron adds.

Continuous epilepsy of genetic origin

Fever convulsions persist until about one year of age in children with Dravet syndrome. After that the epileptic seizures will continue but will no longer be associated with fever. “These can happen at any time without being able to define a trigger, and will be marked by atypical absence around 4 or 5 years of age. Or even with MyoclonusWhich is a kind of rapid muscle jerk, a kind of flash. “ Dr. Caseron explains.

Towards the age of 18 months, the child then presents a visible slow in development, from the point of view of language, coordination or balance of movement, which is called ataxia. “These are the children who present Skeletal deformity The disease is common, and in some cases scoliosis. “ Specifies more neurologists. “At that time parents are really worried about their child because it is not just epilepsy. A

Diagnosed by a specific test: Electroencephalogram (EEG). According to experts, It will reveal the presence of disease by a certain tracing. It can be diagnosed by associating it with pediatric disorders: epilepsy, Psychomotor obstructionSkeleton distortion … In big cities, there are specialized centers that can diagnose the disease.

Drew’s disease, a rare epilepsy

Too severe, Dravet syndrome remains rare, fortunately. “It simply came to our notice then One in 40,000 babies bornIt doesn’t matter if the parents are worried about their child having epileptic seizures and they think their child will be diagnosed with Dravet’s disease. ” I want to reassure Dr. Caseron. “Classic epilepsy exists in children, it is treated by Medicinal And the treatment is working well. It has nothing to do with this particular syndrome. A

In the case of Dravet’s disease, the child carries the mutation or extinction of the SCN1A gene. Chromosome 2. “It is a gene that codes for the subunits of a voltage-gated sodium channel present in neurons, which are excitatory cells. Neuron It becomes very exciting, so the convulsions, Still reveals Dr. Casseren. Sometimes, during acute convulsions, the child will enter the status epilepticus. “State epilepticus is when epilepsy doesn’t stop: it goes as far as it can Coma. A Fortunately, this condition does not occur with every epileptic seizure.

Evolution, treatment, prognosis: What is life for adults affected by this atypical syndrome?

Unfortunately, treatment is rare and epilepsy caused by Dravet syndrome responds badly to them and is drug-resistant. ” We can give StiripentalWhich is an antiepileptic, or DepakineIn the long run “, The expert said. “Some ketogenic diets, which are followed in the hospital, also give results, but overall it is Disability There is no treatment and no surgery. A

Drewett’s syndrome requires observation and multidisciplinary management by a neuropatherapist and other relevant professionals. It is estimated that 80% of infected children will be adults. ” Unfortunately, Adults People with this syndrome are usually less likely to be alone and have to stay in a center for adults with disabilities, as their crisis is still great. “ Dr. Caseron says again.

Associations and discussion forums exist for relatives and patients affected by Dravet’s disease. The most well-known association is “Alliance Syndrome of Dravidian”, www.dravet.fr, Which brings together French-speaking families of children and adults with Dravet syndrome, of which Dr. Charlotte Dravet is an honorary member. It has branches across France and campaigns for a better understanding of this disability.

As far as forums are concerned, there are forums for working sites Consumer healthc, or a more specialized forum for rare disease information services, www.forums.opathiesraresinfo.org, where parents can discuss the same problem with other people.

Finally, keep in mind that Dravet syndrome remains a serious pathology because of its approximate mortality rate. About 15%An epileptic seizure may result from sudden death, or from a seizure to a minor accident, such as drowning, for example.

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