Symptoms of Dravet syndrome vary from person to person. In some cases, the condition is life-threatening. Seizures occur, development is delayed, and there is a risk of death due to sudden unexpected death in epilepsy (SUDEP). Treatment methods vary from medication to surgery.
Approximately 3 to 8% of children are diagnosed with Dravet syndrome during the first year of life. The condition is not hereditary but is associated with a mutation in the SCN1A gene. The gene controls electrical signals in the brain. In Dravet syndrome, the gene is defective, leading to overactivity of the neurons.
Seizures are a key symptom of Dravet syndrome. These seizures can range from mild to severe. The condition can also cause life-threatening complications. Some children also experience behavioral dysregulation.
Dravet syndrome can be treated with antiepileptic medications. However, these medicines are not effective in preventing seizures. In some cases, a Vagus nerve stimulator may be helpful. A small electrical device is placed in the chest and sends electrical impulses to the brain through the vagus nerve. The stimulator helps control seizures.
Dravet syndrome is diagnosed through a number of medical tests. Your child’s doctor will ask about any previous seizure history, as well as other symptoms. This will help your doctor determine whether or not your child has Dravet syndrome.
Your child may need to have an electroencephalogram (EEG), which is a test that records electrical activity in the brain. It is used to diagnose Dravet syndrome and to confirm the diagnosis. Other tests may be used to diagnose Dravet syndrome, including magnetic resonance imaging (MRI) and a blood test for a specific mutation.
Some children with Dravet syndrome have behavioral problems and speech delays. They may also have attention deficit hyperactivity disorder (ADHD). Treatment may include developmental therapy, physical therapy, and occupational therapy. A medical team may also recommend a change in diet.
Most children with Dravet syndrome have myoclonic seizures. Myoclonic seizures are sudden, jerking movements that affect both the body and the mind. Typical myoclonic seizures last less than a second. The seizures can occur in clusters or individually.
Dravet syndrome can affect your child’s life for the rest of their life. Early treatment can help improve their quality of life and long-term outlook.
Some children with Dravet Syndrome also develop autism spectrum disorders. Other children with Dravet Syndrome may have movement problems, such as tremors and bradykinesia. These problems can affect your child’s mobility and can lead to cognitive delays and behavioral problems.
During childhood, motor development is often delayed in Dravet syndrome. The aim of this study was to describe the course of motor development in children with Dravet syndrome. The research used information obtained from medical records.
The study evaluated motor development in 43 children who had been diagnosed with Dravet syndrome. Various assessments were used. The results indicate that children with Dravet syndrome have delayed gross motor development. The study suggests that this delay is not only present in the initial two years of life, but also in adolescence.
Children with Dravet syndrome have a moderate to severe developmental delay. The delay may affect learning, cognition, and speech. In addition, children may also suffer from behavioral dysregulations.
Most Dravet syndrome patients have a genetic mutation in the SCN1A gene. The gene encodes instructions for making a protein that helps nerve cells fire. In Dravet syndrome, the gene is mutated, causing the cells in the brain to malfunction. This results in a variety of seizures.
There are several ways to manage seizures in Dravet syndrome. Individualized educational programs, behavioral therapy, and medication may help. These treatments can also reduce the frequency of seizures.
Among the most common seizures are hemiclonic, atypical absence, and complex partial seizures. Seizures may start within the first year of life. Seizures can lead to status epilepticus, which is a medical emergency. This can lead to brain damage and increase the risk of death. In addition, seizures may be triggered by fever. If a child experiences a seizure during a fever, it may indicate that the child has a mutated SCN1A gene.
In addition to seizures, a child with Dravet syndrome may experience developmental delays. In adolescence, children may also have intellectual disabilities. In addition, there may be a need for extra help at school.
Depending on the severity of the disorder, children may need speech and physical therapies. Occupational therapy may also be beneficial. In addition, children with Dravet syndrome may benefit from orthotics. These are orthotics that can help with foot alignment. The gait may also worsen, leading to reduced mobility.
Sudden unexpected death in epilepsy (SUDEP)
Approximately 40 to 50% of all deaths in Dravet syndrome (DSE) patients are due to a sudden unexpected death in epilepsy (SUDEP). This type of death occurs in about one in every thousand epilepsy patients per year. Although the cause is unclear, respiratory dysfunction and postictal suppression in EEG have been shown to be risk factors in such cases.
Sudden unexpected death in epilepsy is a feared complication of epilepsy. Although many risk factors have been identified, a prevailing hypothesis suggests that SUDEP occurs after centrally mediated autonomic failure, followed by disruption in heart rhythm.
Cardiac arrhythmias, which include premature ventricular beats, atrioventricular blocks, and AV-nodal escape beats, are common causes of sudden death in the general population. They are particularly common during generalized tonic-clonic seizures. However, many patients may have cardiac arrhythmias without exhibiting signs of death. Nonetheless, cardiac arrhythmias have been linked to SUDEP, and it is unclear if this is caused by genetic or environmental factors. Until more is understood, cardiac arrhythmias should be considered in patients with multifactorial conditions.
Recent studies have reported tachycardia in five to four-in-ten patients with complex partial seizures. In addition, cardiac arrhythmias are common in patients with Dravet syndrome. These findings suggest that SUDEP may be due to an autonomic failure triggered by a tonic-clonic seizure.
Cardiac arrhythmias may also be caused by seizures, which may lead to abnormal obstruction of the airways. In addition, patients may experience sleep-related breathing problems, which may lead to sudden unexpected death from epilepsy. Fortunately, patients can avoid the risk of SUDEP through regular doctor visits, active participation in the treatment of their epilepsy, and good seizure control.
Recent studies have reported that patients with refractory epilepsy may have a higher incidence of sudden unexpected death from epilepsy. They also suggested that certain gene mutations may increase the risk of SUDEP.
Researchers are also attempting to understand how SUDEP is caused. One study suggested that the risk of SUDEP may be higher in patients with long-term seizures, since the ictal burden of a lifetime may be sufficient to interfere with cardiac conduction. In addition, the use of multiple concomitant antiepileptic drugs has been associated with a higher incidence of SUDEP.
Despite numerous drug therapies, Dravet syndrome is one of the most difficult epilepsy syndromes to treat. Often associated with cognitive decline, children with Dravet have seizures that can be difficult to control. Treatment options for Dravet syndrome include anti-epileptic medications, non-pharmacologic therapies, and non-pharmacologic strategies to reduce the risk of seizures.
In addition to seizures, Dravet syndrome can cause atypical absence seizures, focal seizures, and non-convulsive status epilepticus. Seizures can be triggered by visual stimuli, emotional stress, and changes in body temperature. The condition is associated with behavioral disorders, intellectual disability, and sensory integration problems. Patients often have co-morbidities such as chronic infections and sleep problems.
Dravet syndrome is a rare condition that begins in infancy. The condition is caused by a mutation of the voltage-gated calcium channel alpha-1 subunit gene. A genetic blood test is useful for determining whether a child has the condition. However, these tests are not 100 percent accurate.
The best way to treat Dravet syndrome is to administer anti-epileptic medications, but these drugs do not always control seizures. In fact, the majority of patients with Dravet have seizures that do not respond to current therapies.
The main treatment options for Dravet syndrome are valproic acid, lamotrigine, and clobazam. Children with Dravet syndrome have a higher risk of status epilepticus. The treatment for status epilepticus should be individualized for each child. Children with Dravet syndrome are also at increased risk of seizures triggered by infections.
In addition to anti-epileptic drugs, Dravet syndrome patients may also benefit from a ketogenic diet. This is a high-fat diet that is designed by a neurologist or dietitian with experience in Dravet syndrome. Many Dravet patients report a decrease in seizures when following a ketogenic diet.
Other possible treatment options for Dravet syndrome include the use of fenfluramine and lorcaserin. Both of these drugs are serotonin (5-HT) receptor, agonists. However, clinical trials are needed to determine their effectiveness.
The Dravet Syndrome Foundation provides support and resources for patients and their families. The International League Against Epilepsy (ILAE) is working on a task force to address eight epilepsy syndromes.
Health A to Z. (n.d.). HSE.ie. https://www2.hse.ie/az/
U.S. National Library of Medicine. (n.d.). https://www.ncbi.nlm.nih.gov/
Directory Health Topics. (n.d.). https://www.healthline.com/directory/topics
Health A-Z. (2022, April 26). Verywell Health. https://www.verywellhealth.com/health-a-z-4014770
Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/