The Dravet syndrome refers to a very rare and severe form of epilepsy, impaired intellectual development occurs when during the course of epilepsy. The disease usually begins before the age of one, with Dravet syndrome more frequently affecting boys than girls.
What is Dravet Syndrome?
The Dravet syndrome is characterized by the fact that epileptic seizures occur for the first time in initially healthy children within the first year of life. The prognosis regarding the mental development of the child is always different. Mostly it is a therapy-resistant form of epilepsy, because the children suffering from Dravet syndrome can have seizures for a lifetime.
It is possible that the entire brain is affected, in other cases it is only individual areas. In addition, a distinction is made between cramping, flaccid and rhythmically twitching seizures, which can, however, also occur in combination. They often take a long time (usually more than 20 minutes).
They are hard to break through. Even emergency medication is not always successful, so emergency medical intervention is often required. Epileptic seizures are very common in infancy and toddlerhood and decrease with age.
Causes
In 80 percent of those affected, Dravet syndrome is caused by a change or loss of the SCN1A gene. As a result, normal brain function is no longer guaranteed. In Dravet’s syndrome, the information between nerve cells is not transmitted optimally, which causes epileptic seizures and delayed development. It is therefore a genetic disease.
However, Dravet syndrome is usually not inherited from one parent. The most common trigger of an attack in young children is a rapid change in the ambient temperature, for example hot and cold bath, hot climate, a change in body temperature due to a fever. A slight increase in body temperature can also lead to an epileptic fit. Further triggers are an infection, physical exertion, fatigue, sensitivity to light, excitement, noise or visual stimuli. With Dravet syndrome, however, it is also possible that the seizures occur without a trigger.
Symptoms, ailments & signs
In addition to seizures, children with Dravet’s syndrome often suffer from additional symptoms that must be adequately treated. These include behavioral problems such as attention disorders, autistic traits, oppositional behavior, delayed development of language, gait insecurity, and balance problems.
Orthopedic problems are also observed, because the low muscle tone often leads to flat feet and scoliosis. Further symptoms are hypotension, chronic infections, perception disorders and disorders of the autonomic nervous system.
From the age of two it can be seen that the child’s development is slowed down. The language is particularly affected. Hormonal changes can also occur, as puberty can begin both earlier and later. Rarely does Dravet syndrome result in involuntary movements and stiffness.
Diagnosis & course
If Dravet syndrome is suspected, diagnosis is difficult at the beginning, because the EEG does not allow any clear conclusions to be drawn at the beginning. The magnetic resonance imaging of the head itself remains in the course often inconspicuous. It turns out, however, that the affected child’s psychomotor development is usually delayed.
Therefore behavioral problems are detected. A molecular genetic test can be used for confirmation. The diagnosis of Dravet syndrome is sometimes only made after several years of disease, when the symptoms are clearer. The development of the disease is initially unpredictable.
Basically, the earlier the Dravet syndrome is recognized, the earlier the appropriate treatment can be initiated. Monitoring during sleep is usually beneficial, as an attack that is too severe and goes unnoticed can lead to death. Ultimately, the course varies greatly from child to child. There are disease courses with no or mild cognitive impairment, but moderate to severe intellectual disabilities are also possible.
Complications
As a rule, boys and men are more likely to have Dravet syndrome than women. This leads to strong and frequent epileptic seizures. The seizures also severely affect mental ability.
In many cases, patients experience seizures even when there is no epileptic seizure. The seizures lead to some form of autism and difficulty concentrating. Disturbances of balance and speech disorders can also develop. As a rule, the development of these complications depends on the frequency and severity of the epileptic seizures.
Often the muscle tone also decreases and so-called buckled feet occur. Perception disorders also occur outside of epileptic seizures. These complications severely limit the patient’s life and reduce the quality of life. Often the children are bullied or teased because of the involuntary movements.
The cause of Dravet syndrome cannot be treated. However, it is possible to limit the epileptic seizures and thus stop the damage to the body. Documentation of the seizures can often clarify the trigger. Life expectancy is often reduced. In many cases, the child’s parents also suffer from mental health problems.
When should you go to the doctor?
In the event of seizures, a doctor should always be consulted. A seizure does not necessarily indicate Dravet syndrome, but medical clarification of the causes is necessary. If seizures occur again and again in connection with behavioral problems or delayed language development, it may be Dravet syndrome – a case for the specialist.
Basically, the earlier Dravet syndrome is diagnosed, the earlier treatment can be started. 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 ambient or body temperature.
Infections, fatigue, 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 an ambulance immediately. If mild attacks occur repeatedly, a visit to the epilepsy center is recommended.
Treatment & Therapy
The documentation of the seizures is very helpful for the control of the 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 doctor has an overview of all treatment-relevant data on the seizures, the medication and the course of therapy at a glance.
In addition, the psychosocial aspects of the disease represent an important component of therapy for the person concerned 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 with Dravet syndrome.
Due to the changing focus of seizures and the fact that the entire brain is often involved, there are also no treatment options for epilepsy surgery. Effective drug treatment plays a crucial role, especially in the first few years of life.
A combination of two to three drugs, which are individually adapted to the respective situation, is often used here. Not all children with Dravet syndrome respond the same to the medication. It is also important to recognize and avoid the triggers of the seizures.
Outlook & forecast
Dravet syndrome does not heal itself. As a result, those affected are in any case dependent on medical treatment. This is the only way to alleviate the symptoms and improve the quality of life of those affected.
If Dravet syndrome is not treated, patients will experience severe seizures and epileptic seizures. In the worst case, these can lead to the death of the patient or to irreversible injuries. There are also disturbances in walking and balance problems. The development of the affected child is also considerably delayed and restricted by the syndrome, which leads to attention disorders and disorders in adulthood. The syndrome can also negatively affect the patient’s ability to speak and lead to language difficulties.
Treating the syndrome can relieve most of these symptoms. A complete healing cannot be achieved with this, so that the patients are always dependent on the help of other people in their lives. Ordinary development can take place through the use of medication and special encouragement. It cannot generally be predicted whether Dravet syndrome will lead to a reduced life expectancy in the patient.
Prevention
In order not to worsen the development of Dravet syndrome or to worsen it a little, it is important to eliminate all triggers that can lead to a seizure. This means, for example, that if the fever rises, antipyretic agents are administered immediately and that the number of degrees in the bathing water does not exceed 32 to 35 degrees.
When driving a car, the child should be somewhat protected, as many of those affected cannot tolerate the alternation between sun and shade. The same is often true of reflective sun, glittering snow, and sitting too closely in front of the television. In addition, the romp and general stress (also more positive) should be kept within limits. Every child is different so it is important to watch what they will respond to with a seizure.
Aftercare
With Dravet syndrome, there are no follow-up options available to the patient. In most cases, the disease cannot be completely treated, so that the person concerned only has to rely on purely symptomatic treatment. The life expectancy of the patient is also significantly reduced as a result of this disease.
The first priority is therefore the early detection and treatment of Dravet’s syndrome. The treatment itself is usually done with the help of medication. The medication should always be taken regularly and as directed by a doctor. If anything is unclear or in doubt, a doctor should always be contacted.
Should an epileptic seizure occur as a result of Dravet’s syndrome, a hospital usually has to be visited immediately or an emergency doctor called directly. If certain triggers for the epileptic seizures are identified, these should of course be reduced or avoided as far as possible.
Those affected by Dravet syndrome also rely on the help and support of friends and family in their everyday lives. Loving care can also have a positive effect on the further course of the syndrome. In some cases, however, the life expectancy of those affected is reduced by the syndrome.
You can do that yourself
Dravet syndrome is a severe form of epilepsy that affects children under one year of age and affects their mental development. The disease is genetic in the majority of those affected and cannot be treated causally. There are therefore no self-help measures that have a causal effect.
Dravet syndrome is often not diagnosed correctly right away because it occurs very rarely. In addition, the seizures are often less severe in the early stages and are not always taken seriously. However, patients benefit from timely and adequate treatment of the syndrome. One of the most important self-help measures is therefore that the parents of affected toddlers consult a specialist in good time.
The epileptic seizures usually increase during the child’s first years of life and can be very severe. It does happen that the affected children experience cardiac arrest or respiratory arrest and they need immediate life-saving measures. The parents and all other people who are responsible for looking after the child should therefore complete a first aid course. In addition, it is usually necessary to monitor the child around the clock so that seizures do not go undetected and become fatal.
In many children, there are triggers that set off the seizures. These often include changes in temperature, for example when bathing or if you have a fever, bright light or the rapid change from light to shadow. Parents should monitor their child and identify possible triggers in order to rule out such situations as much as possible.
