Dravet syndrome refers to a very rare and severe form of epilepsy in which impaired mental development occurs during the course of epilepsy. The disease usually begins before the age of one, and boys are more often affected by Dravet syndrome than girls.
What is Dravet syndrome?
Dravet syndrome is characterized by the first occurrence of epileptic seizures within the first year of life in initially healthy children. The prognosis with regard to the child’s mental development is always variable. In most cases, it is a therapy-resistant form of epilepsy, because the children suffering from Dravet syndrome may have the seizures for the rest of their lives. It is possible that the entire brain is affected, in other cases only individual areas are affected. In addition, a distinction is made between convulsive, flaccid and rhythmic twitching seizures, which can also occur in combination. They often last particularly long (usually more than 20 minutes). They are difficult to break. Even emergency medication does not always lead to success, so that emergency medical intervention is often required. Epileptic seizures are very common in infancy and early childhood and become less frequent with increasing age.
Causes
The cause of Dravet syndrome is due to an alteration or loss of the SCN1A gene in 80 percent of affected individuals. This prevents the brain from functioning normally. In Dravet syndrome, information is not transmitted optimally between nerve cells, which causes the epileptic seizures and delayed development. Consequently, it is a genetic disease. Nevertheless, Dravet syndrome is usually not inherited by one parent. The most common trigger of a seizure in young children is a rapid change in ambient temperature, for example, hot and cold baths, hot climate, a change in body temperature due to fever. A slight increase in body temperature can also lead to an epileptic seizure. Other triggers include an infection, physical exertion, overtiredness, a sensitivity to light, excitement, noise or visual stimuli. However, in Dravet syndrome, it is also possible for seizures to occur without a trigger.
Symptoms, complaints, and signs
Children who have Dravet syndrome often suffer from additional symptoms besides seizures that must be adequately treated. These include behavioral problems such as attention deficit disorder, autistic traits, oppositional behavior, delayed development of speech, gait insecurity, balance problems. Orthopedic problems are also observed, as the low muscle tone often leads to buckling feet and scoliosis. Other symptoms include hypotonia, chronic infections, perceptual disturbances and autonomic nervous system disorders. From the second year of life, it becomes apparent that the child’s development is slowed down. Language is particularly affected. Hormonal changes may also occur, as both an early and delayed onset of puberty is possible. Rarely, Dravet syndrome causes involuntary movements and stiffness.
Diagnosis and course
When Dravet syndrome is suspected, diagnosis is difficult at the outset because the EEG does not initially allow definite conclusions to be drawn. Magnetic resonance imaging of the head also often remains unremarkable, even during the course. However, it becomes apparent that the psychomotor development of the affected child is usually delayed. Therefore, behavioral abnormalities are noted. Molecular genetic testing may be used for confirmation. The diagnosis of Dravet syndrome is sometimes made only after several years of disease progression, when the symptoms are more definite. The development of the disease is initially unpredictable. In general, the sooner Dravet syndrome is recognized, the sooner appropriate treatment can be initiated. Monitoring during sleep is usually beneficial, as a seizure that is too severe and goes unnoticed can lead to death. Ultimately, the course of the disease varies greatly from child to child. There are courses of the disease with no or mild cognitive impairment, although moderate to severe mental retardation is also possible.
Complications
As a rule, boys and men are more often affected by Dravet syndrome than women.Strong and frequent epileptic seizures occur. The seizures also severely impair mental ability. In many cases, patients suffer from seizures even when there is no epileptic seizure. The seizures lead to a form of autism and to concentration disorders. Disturbances of balance and speech disorders may also develop. Usually, the development of these complications depends on the frequency and severity of the epileptic seizures. Often, muscle tone also decreases and the so-called buckling feet develop. Perceptual disturbances also occur outside of the epileptic seizures. These complications significantly limit the patient’s life and reduce the quality of life. Often the children are bullied or teased because of the involuntary movements. Dravet syndrome cannot be treated causally. However, it is possible to limit the epileptic seizures and thus stop the damage to the body. Often, documentation of the seizures can clarify the trigger. Life expectancy is often reduced. In many cases, the child’s parents also suffer from psychological distress.
When should you see a doctor?
Seizures should always be referred to a physician. Although a seizure does not necessarily indicate Dravet syndrome, medical clarification of the causes is still necessary. If seizures occur repeatedly in conjunction with behavioral problems or delayed speech development, it may be Dravet syndrome – a case for the specialist. As a general rule, the sooner Dravet syndrome is diagnosed, the sooner treatment can begin. In addition, affected children should be monitored around the clock, which is usually only possible in an appropriately equipped clinic. Dravet syndrome often occurs after a rapid change in environmental or body temperature. Infections, overtiredness, physical exertion and stimuli such as noise or bright light can also trigger an epileptic seizure. If the above symptoms occur in conjunction with these circumstances, it is best to call 911 immediately. If mild seizures occur repeatedly, a visit to the epilepsy center is recommended.
Treatment and therapy
Documentation of seizures is very helpful in guiding appropriate therapy. EPI-Vista is ideal. This is a documentation and therapy management system that is Internet-based and can be accessed almost anywhere at any time. The physician thus has an overview of all treatment-relevant data on seizures, medication and the course of therapy at a glance. In addition, the psychosocial aspects of the disease are an important component of the therapy for the affected person and the family. Freedom from seizures and normal development of the child are, of course, the main goal of treatment, but unfortunately this is currently difficult to achieve in Dravet syndrome. Moreover, due to the changing seizure foci and the fact that often the whole brain is involved, there are no epilepsy surgical treatment options. Especially in the first years of life, effective drug treatment plays a crucial role. Here, a combination of two to three medications is often used, which are individually adapted to the corresponding situation. Not all children with Dravet syndrome respond the same way to medication. In addition, it is important to identify and avoid the triggers of the seizures.
Outlook and prognosis
In Dravet syndrome, self-healing does not occur. Consequently, affected individuals are dependent on medical treatment in any case. This is the only way to alleviate the symptoms and improve the quality of life of the affected person. If Dravet syndrome is not treated, patients suffer from severe seizures and epileptic seizures. In the worst case, these can also lead to the death of the patient or to irreversible injuries. There are also disturbances in walking and problems with balance. The development of the affected child is also considerably delayed and restricted by the syndrome, resulting in attention deficits and disorders in adulthood. Similarly, the syndrome can negatively affect the patient’s ability to speak, leading to speech difficulties. Treatment of the syndrome can alleviate most of these complaints.A complete cure cannot be achieved, so that the patients are always dependent on the help of other people in their lives. By taking medication and special support, an ordinary development can take place. Whether there is a reduced life expectancy in the patient due to Dravet syndrome cannot be predicted in general.
Prevention
To avoid worsening the development of Dravet syndrome much, if at all, it is important to eliminate all triggers that can lead to a seizure. This means, for example, that fever-reducing agents are administered immediately if a fever rises and that the degree of the bath water does not exceed 32 to 35 degrees. When driving, the child should be somewhat protected, as many affected persons cannot tolerate the change between sun and shade. The same often applies to reflective sun, glistening snow and sitting too close to the television. In addition, frolicking and generally stress (even positive stress) should be kept in check. Every child is different, so it is necessary to observe what they react to with a seizure.
Aftercare
In Dravet syndrome, there are no options for follow-up care available to the patient. In most cases, the condition also cannot be fully treated, leaving the affected person to rely on purely symptomatic treatment. The life expectancy of the patient is also significantly reduced by this disease. The first priority is therefore the early detection and treatment of Dravet syndrome. The treatment itself is usually carried out with the help of medication. The medication should always be taken regularly and according to a doctor’s prescription. In case of ambiguity or doubt, a doctor should always be contacted. If an epileptic seizure occurs as a result of Dravet syndrome, a hospital must usually be visited immediately or an emergency doctor called. If certain triggers for the epileptic seizures are identified in the process, these should of course be reduced or avoided if possible. Those affected by Dravet syndrome also depend on the help and support of friends and family in their daily lives. Loving care can also have a positive effect on the further course of the syndrome. In some cases, however, the life expectancy of the affected person is reduced by the syndrome.
What you can do yourself
Dravet syndrome is a severe form of epilepsy that occurs in children as young as one year old and affects their mental development. The disease is genetic in the majority of those affected and cannot be treated causally. Therefore, there are no self-help measures that have a causal effect. Dravet syndrome is often not properly diagnosed right away because it occurs very rarely. In addition, seizures in the early stages are often less severe and are not always taken seriously. However, patients benefit from prompt adequate treatment of the syndrome. One of the most important self-help measures is therefore for the parents of affected young children to consult a specialist in good time. Epileptic seizures usually increase during the first years of the child’s life and can take very severe forms. It is quite common for affected children to experience cardiac or respiratory arrest and to be in need of immediate life-saving measures. The parents and all other persons responsible for the care of the child should therefore complete a first aid course. In addition, around-the-clock monitoring of the child is usually required to prevent seizures from going undetected and becoming fatal. In many children, there are triggers that trigger the seizures. These often include temperature changes, for example during bathing or fever, bright light or the rapid change from light to shade. Parents should observe their child and identify possible triggers in order to exclude such situations as far as possible.