Dravet syndrome is a rare and genetic disease of children characterized by severe epilepsy beginning before the age of one year. This disease prevents autonomy in many areas of life and traditional schooling.
Dravet syndrome is a genetic and rare disease of the child who is characterized by epileptic seizures that usually begin before the age of one year. What are the signs ? The triggering factors of a crisis? The management of ? Is it genetic? The prognosis for survival?
Definition: what is Dravet syndrome?
The name “Dravet syndrome” (SD) comes from the name of the French doctor Charlotte Dravet who described the disease in 1978. It’s a rare sickness. The prevalence of the disease (at a given moment, number of births of children who will be affected) is estimated from 1 in 22,000 births to 1 in 40,000 births. “Dravet syndrome is a epileptic and developmental encephalopathy (brain disease). This severe epilepsy often resistant to treatment usually begins before the age of one and has a developmental impact that will persist into adulthood” defines Professor Rima Nabbout, neuropediatrician. “In addition to epileptic seizures, children present neurodevelopmental disorders (cognitive disorders and behavioral disorders), food, sleep, walking“explains the specialist. “This disease prevents autonomy in many areas of life and prevents classic schooling with educational program needs adapted” she clarifies.
What are the symptoms of Dravet syndrome?
According to High Authority of Healtha Dravet syndrome should be considered in the presence of the following signs:
► First prolonged seizure or febrile or non-febrile status occurring before the age of 6 months (and up to 12 months of age)
► Or recurrence of convulsive seizures with the characteristics of Dravet syndrome (prolonged febrile, hemicorporal, rocking seizures) beginning withbefore the age of 15 months.
► Appearance before the age of two of a global developmental disorder associated with febrile or non-febrile seizures.
What are the causes of Dravet syndrome?
Dravet syndrome is caused for most patients (about 85%), by a mutation of the SCN1A gene. A mutation in this gene can lead to activity “electric“abnormal brain likely to cause seizures but also brain development disorders giving cognitive and behavioral effects which thus have a double etiology: the seizures and the genetic anomaly…
Is Dravet syndrome genetic?
Dravet syndrome is of genetic origin. Pathogenic variants of the SCN1A gene (sodium voltage-gated channel alpha subunit 1, chromosome 2q24.3) are identified in approximately 85% of patients with Dravet syndrome. More rarely (7%), the syndrome is linked to pathogenic variants modifying other genes.
What is the life expectancy of Dravet syndrome?
“Mortality children and then adults with Dravet syndrome is higher than that of the general population“ informs Professor Nabbout. A prolonged epileptic seizure can lead to intensive care and endangers life. Accidents during crises are also a cause of death. The specialist also points out that these children have a higher risk than other patients with SUDEP epilepsy (Suddent unexplained death in epilepsy or sudden unexplained death in epilepsy).
What are the treatments for Dravet syndrome?
The treatment of Dravet syndrome is based on its early recognition and implementation of appropriate background treatments and emergency for prolonged or repeated crises. The emergency treatment of epileptic seizures uses Benzodiazepines (oral or intra-rectal). Several drugs are used for the disease-modifying treatment of Dravet syndrome. Three drugs have been introduced into the therapeutic arsenal: Stiripentol, cannabidiol (Epidyolex®) which has a Temporary Authorization for Use in France and Fenfluramine. “These drugs help reduce seizures“explains the neuropediatrician. Other anti-epileptics like Sodium valproate, Topiramate, benzodiazepines can be used. “Non-drug treatments can also be used: ketogenic diet, vagus nerve stimulation” indicates Professor Nabbout who announces that the “first phases of gene therapy clinical trials have begun for this monogenic disease (due to a particular diseased gene)“. Appropriate care, with multi-level stakeholders (speech therapist, psychomotrician, physiotherapist, etc.) and different structures (CAMSP, SESSAD, CMP, IME, etc.) but also several specialists (orthopedist, child psychiatrist, stomatologist, etc.) must be set up according to the needs of each patient within the framework of an MDPH file.
“Children with Dravet syndrome ask lots of medical care and supervision from their family. A recent questionnaire showed in particular that 80% of mothers have stopped working completely or partially to take care of them” informs Professor Nabbout who emphasizes that the more these children grow, the more the psychosocial side is in the foreground. “Children with Dravet syndrome become adults with specific needs and maintain the need for the caregiver“ she indicates.
Thank you to Pr Rima Nabbout, neuropediatrician at Necker Hospital, coordinator of the “Rare epilepsies” center, founding member of the European reference network on rare and complex epilepsies.
Sources:
– National Protocol for Diagnosis and Care (PNDS) Dravet Syndrome Reference Center for Rare Epilepsies, September 2021.
– Patient association Alliance Dravet Syndrome.