What Is Meant by Epileptic Encephalopathies?
Epileptic Encephalopathies are characterized by severe epilepsies, drug-resistant, and encephalopathy, referred to as developmental delay or loss of developmental skills. An epileptic encephalopathy is a severe form of epilepsy due to decreased cognitive and behavioral functions. This condition usually affects children in their early childhood and can also be seen in adults. Epileptic encephalopathy can be
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Generalized seizure where the abnormal activity will occur in both brain hemispheres.
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Focal seizures, which originate in only one part of the brain.
Epileptic encephalopathy seizures are severe, recurrent, and resistant to anti-epileptic drugs. This type of seizure causes damage to the brain, which causes a delay in development and disturbs developmental skills. In some cases, impairment of a child's development can be the underlying cause of such seizures known as Developmental epileptic encephalopathies (DEE).
What Is Meant by Developmental Epileptic Encephalopathies?
When the developmental impairment of a child is the reason for the occurrence of epileptic encephalopathy, it is called Developmental Epileptic Encephalopathy (DEE). Two primary conditions that contribute to developmental delay are:
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Developmental delay is the underlying cause of epilepsy seen in children.
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In the case of some children with DEEs experience epileptic encephalopathy, which is caused due to recurrent seizures and abnormal EEGs, which can cause developmental issues.
Seizure control should be enhanced while the epileptic encephalopathy will improve while the DEE component will remain the same. DEE starts in the early life of the infant, where there may be an occurrence of frequent and severe seizures, which can be of various forms.
What Are the Syndromes Associated With Epileptic Encephalopathy?
There are eight syndromes associated with epileptic encephalopathy; these are
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West Syndrome: It is also called an infantile spasm. In this form, the seizures occur in clusters, about 150 seizures at a time, and this condition lasts only for a few seconds.
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Darvet Syndrome: It is also called severe myoclonic epilepsy, seen in infants, where frequent and prolonged episodes characterize the seizure initiated by high blood temperatures. It is usually caused in the initial years of infancy.
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Early Myoclonic Encephalopathy (EME): This type of seizure usually occurs in newborns and is called neonatal myoclonic encephalopathy. This type of seizure is a drug-resistant form that causes severe damage resulting in reduced life expectancy.
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Continuous Spike-Wave of Sleep: CSWS is a condition seen more in boys than in girls and occurs between the ages of 2 to 12 years. The affected child undergoes different experiences due to this type of seizure. It reduces cognitive functioning in one to two years post-seizure occurrence.
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Landau Kleffner Syndrome: LKS, also known as progressive epileptic aphasia, those children affected by this type of seizure experienced focal seizures usually during sleep and subsided with age. In addition to the seizure experience, the children will gradually lose the ability to speak and understand speech.
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Ohtahara Syndrome: This is also called early infantile epileptic encephalopathy, which usually occurs around three months, which are characterized by tonic spasms and drug-resistant seizures.
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Lennox-Gastaut Syndrome: In this type of seizure, the children can experience various forms of seizure without any underlying cause. This form responds to treatment and can lessen the frequency of occurrence.
- Myoclonic Status in Nonprogressive Encephalopathies: These seizures occur in clusters for a prolonged time and are recurrent. The underlying cause of this condition is any chromosomal or brain developmental abnormalities.
What Are the Signs and Symptoms Associated With Epileptic Encephalopathies?
The signs and symptoms of this condition vary from person to person. Most of the seizures associated with epileptic encephalopathies occur very frequently and are very severe form. The most common type of seizure associated with epileptic encephalopathy are:
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Tonic Seizure: This form of seizure results in muscle stiffening in the limbs and trunk, usually during sleep.
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Atonic Seizure: It is also known as an akinetic seizure, characterized by a sudden drop in muscle strength.
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Myoclonic Seizure: This affects a single or group of muscles, which causes short jerky muscle movements.
What Are the Causes of Epileptic Encephalopathy?
The causes of this condition vary from person to person, but some common causes are,
1. Genetics: Genetic means not inherited; the underlying cause of a seizure is due to the genetic defect.
2. Structural Brain Alterations: When there is an abnormal brain structure, it enhances the risk of this condition.
3. Abnormal Brain Development: Two brain developmental issues known to cause this condition are
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Cortical dysplasia results when the topmost layer of the brain does not develop properly.
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Hypertonic hamartoma is one of the malformations seen in the brain due to an abnormal combination of cells and tissue.
4. Brain Injury: An injury to the brain by an external factor can result in the initiation of a seizure.
5. Metabolic Conditions: This act is a rare cause. Metabolic conditions results due to blockage or inactive enzyme required to metabolize food. This causes a build-up of toxins which results in a seizure.
How Is Epileptic Encephalopathy Diagnosed?
Three stages are involved in the diagnosis of this condition,
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Identification: Identifying this condition's underlying cause helps doctors recommend the best treatment option. Some tests are performed to identify the cause,
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EEG: Electroencephalogram helps to monitor the brain's activity.
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MRI: Magnetic resonance imaging helps to view brain images with the help of a magnetic field and radio waves.
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Genetic Testing: Gene testing is done to rule out the presence of any mutations in the DNA (deoxyribonucleic acid) sequence.
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Evaluation of the Seizures Frequency: The family members help to provide a detailed report of the frequency, severity, duration, triggers, and behavior of the child after an episode of seizure. Even the report regarding the intake of any medication is also given to the doctor and the frequency at which they are taken.
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Presence of Other Medical Issues: Children affected by this condition are at enhanced risk of developmental delay, learning, behavioral, and emotional issues.
How Is Epileptic Encephalopathy Managed?
The treatment method for this condition depends on the underlying cause. Some typical treatments include:
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Anti-seizure Medications: Epileptic encephalopathies are known to be medication resistant.
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Vagus Nerve Stimulation: Devices are used to stimulate the vagus, never with electrical impulses.
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Ketogenic Diets: This diet includes cutting down on carbohydrates and replacing them with fats.
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Surgical Intervention: This is performed when the seizure is focal.
Conclusion
An epileptic encephalopathy is a severe seizure that is usually drug-resistant and causes severe brain damage. This usually occurs in the early life of a child. Recurrent and continuous occurrences of seizures also characterize this condition. This condition can be treated by treating the underlying cause. This condition will not respond to any medication as they resist anti-epileptic drugs.
