Encephalopathy with electrical status epilepticus during sleep (ESES) is an age-related epileptic syndrome with a self-limited course. Characteristic of the disorder is marked epileptogenic activation during non-REM sleep. Neuropsychological regressions occur in parallel.
What is an encephalopathy with ESES?
Encephalopathy with ESES is a rare epilepsy syndrome that often develops in childhood. It affects approximately 0.5 percent of childhood epilepsies. ESES is defined by near-continuous epileptogenic activity during non-REM sleep. Physiologic thalamocortical oscillation during sleep triggers rapid secondary synchronization of focal “spike waves.” Another common term for ESES is epilepsy with continuous spike wave discharges during sleep. Onset is particularly common in children between the ages of four and eight. Boys are affected more often than girls – by a ratio of 3:2. The cause of this syndrome is unknown. It usually occurs in children who already have epilepsy.
Causes
Pathologic cranial MRI is detected in 30 to 60 percent of ESES patients. Reports describe cortical dysplasias such as polymicrogyria, hydrocephalus, and pre- or perinatal vascular lesions. In addition, thalamic changes are documented. In approximately 30 percent of affected individuals, ESES develops as a consequence of an atypical polymicrogyria expression of benign focal epilepsy of childhood with centrotemporal spike waves. Generalized potentials to epilepsy during sleep result from rapid secondary bilateral synchronization of a focal epileptogenic focus. The cause of partial impairment of cognitive performance is the epileptogenic focus itself. A temporal relationship between onset of ESES and neuropsychological regression has been demonstrated. Because of different etiologies, multiple causes may lead to the same epileptic syndrome. There is a belief that ESES is an age-dependent response to differential lesions in appropriately predisposed children. Reportedly, a positive family history for epilepsy or febrile seizures has been found in approximately 15 percent of cases. Genetic factors are thus considered inconsequential for causation.
Symptoms, complaints, and signs
The first symptom is epileptic seizures in 80 percent of cases. These occur in a semiologically highly variable manner. The most commonly noted forms are unilateral or bilateral synchronous onset motor seizures. They occur predominantly at night. During the day, atyptic absences have been observed in many patients while awake. Atonic and astatic, simple and complex focal seizures are possible. Tonic seizures have not been documented. An early feature in children is a marked slowed ability to learn. Many children develop problems in understanding language (receptive dysphasia) and in formulating their own thoughts in language (expressive aphasia). As epilepsy progresses, seizures of different types may occur while awake or asleep. They may manifest as moments of mental absence, myoclonic seizures, or focal motor seizures. Although seizures disrupt sleep patterns, affected individuals often appear rested and refreshed the next morning. Some children remain seizure-free during the night.
Diagnosis
An EEG shows epileptic activity during sleep as continuous spikes and waves. This is especially significant during the part of sleep called “slow-wave sleep.” EEG readings are often abnormal during wakefulness. The naming of the syndrome is based on the findings of the EEG. Metabolic blood tests, which look at how bodily functions work, reveal no abnormalities. Brain scans also do not yield abnormal results. ESES syndrome has elctrophysiological as well as clinical similarities with two other syndromes: Landau-Kleffner syndrome and benign focal epilepsy of childhood. It is therefore defined by many specialists as the most distinct form of a single clinical syndrome. With the onset of puberty, clinical epileptic seizures and ESES patterns on EEG improve dramatically. About three to four years after the onset of the syndrome, often around the age of eleven, the symptoms disappear.EEG findings may completely normalize or show mild pathological focal spike waves. Parallel to the improvement of the EEG, increases in cognitive performance may be noted. Behavioral abnormalities decrease at the same time. Most affected individuals show permanent marked residual neurocognitive problems. The extent of permanent deficits depends on various factors. The degree of EEG activation and the underlying disease have a major influence. The duration of ESES is the most significant predictive factor for the extent of neurocognitive impairment. Not confirmed so far is an effect of therapy on the cognitive outcome of patients.
Complications
Usually, encephalopathy with ESES results in epileptic seizures and disturbances of the psyche. These symptoms can have a strong negative impact on the patient’s life, greatly reducing quality of life. The motor seizures occur more frequently at night and are therefore particularly unpleasant for the patient. The seizures often lead to sleep deprivation, sleep disturbances and severe fatigue. There are also complications in the growth of children. Especially children are affected by a reduced intelligence in an encephalopathy with ESES. They can only follow and absorb content slowly. Similarly, there are speech disorders and word-finding problems. Also, comprehension of speech is not readily possible. Due to these symptoms, children can become victims of bullying. The seizures can also occur during the day and make everyday life difficult. In some cases, the patient is dependent on the help of another person. It is usually not possible to completely treat encephalopathy with ESES, although seizures can be limited. Due to the decreased intelligence, various therapies can be performed to assist the child. No further complications occur. However, the parents also suffer greatly from psychological discomfort.
When should one go to the doctor?
If the affected person suffers an epileptic seizure, a doctor should generally be consulted as soon as possible. In severe cases, an emergency physician should be called immediately by people in the immediate vicinity to counteract life-threatening consequences. A medical examination should also be initiated after experiencing another epileptic seizure. The causes of the seizure disorder can vary and must be clarified by a physician after each incident. This is necessary to prevent permanent damage to health as well as to counteract the seizures by providing optimal medical care. Nocturnal seizure disorders are of particular concern. An emergency physician should be called immediately so that adequate initial care can be provided. If unexplained sleep disturbances or unusual interruptions in nighttime sleep occur, it is advisable to consult a physician. If there is a slowed ability to learn or a deficit in understanding the language, a comprehensive medical examination should be performed. People who have striking problems with putting their thoughts into the right words should see a doctor to check the cause. If the affected person appears mentally absent frequently, this is considered worrisome. If the manifestations of mental absence occur in direct association with an epileptic seizure, a physician should be consulted immediately so that treatment can be given.
Treatment and therapy
The goals of drug treatment are to improve EEG and reduce epileptic seizures. This is aimed at increasing neuropsychological performance. Anticonvulsant therapy is also useful in patients without clinical seizures. Based on experience with smaller groups of patients, valproate at a high dose is appropriate as initial therapy. Further attempts at therapy can be made with lamotrigine or levetiracetam. If ESES progresses from previously occurring Rolandic epilepsy, sultiam is recommended. If progression fails to occur, high-dose corticosteroids are administered. This long-term treatment produces significant improvement in up to 77 percent of patients. Frequently, this therapy must be discontinued because of onset of side effects. Other medications may be used to control seizures. These include sodium valproate (Epilim), ethosuximide (Zarontin), and clobazam (Frisium).Especially in cases of focal brain lesion, timely evaluation of epilepsy surgery is performed.
Prospect and prognosis
The prognosis of encephalopathy with ESES is usually considered favorable. The disease represents an age-related disorder. This means that it occurs only during a specific window of time throughout life. It is only diagnosed in children between the ages of four and eight. In the further process of development and growth, spontaneous healing occurs. Even without medical help, the symptoms ease with the onset of puberty and the disease can no longer be diagnosed due to the freedom from symptoms that then occurs. The focus of treatment is on reducing the child’s epileptic seizures. In doing so, the frequency and intensity of the seizure disorder should be reduced. Each seizure can lead to complications and risks, which should be minimized through the administration of medication and good care. Since symptoms occur during sleep, increased vigilance is necessary, especially during this time. Otherwise, there is a risk of serious complications and impairments that can have an impact on the entire way of life. Although there is relief of symptoms in adolescence, the disease is usually detected in patients suffering from other disorders or abnormalities. Therefore, the overall situation must be considered for an adequate prognosis.
Prevention
The mechanisms underlying the development of ESES are complex and have not been fundamentally elucidated to date. Effective prevention of the disease has not yet been identified.
Follow-up
In most cases, no direct options or measures of follow-up are available to affected individuals with encephalopathy with ESES. Affected individuals with this disease usually rely on purely symptomatic treatment of the disease to prevent further complications or discomfort. Whether this will result in a complete cure of encephalopathy with ESES cannot be universally predicted. It is also possible that the life expectancy of the affected person is reduced due to this disease. Treatment is done with the help of medications. These should be taken regularly and in the correct dosage. If there are any uncertainties or other questions, a doctor should always be contacted first. In many cases, patients are dependent on taking the medication for the rest of their lives to relieve the symptoms of encephalopathy with ESES. Should the condition lead to an epileptic seizure, hospitalization or emergency medical attention must be sought immediately to prevent the death of the affected individual. Care and support from friends and family can also have a positive effect on the further course of this disease. In many cases, psychological treatment is also necessary in this process.
What you can do yourself
In case of sleep disorders of any kind, the affected person should seek competent medical help. The interruptions in night sleep are unusual and need to be monitored more closely for better care and treatment. In most cases, patients of encephalopathy with ESES do not notice the physical processes that occur within their night sleep. They have memory lapses in the morning and therefore rely on the observations of others. Since self-help options for this condition are minimal, affected individuals are well advised to seek timely examination and treatment if irregularities occur. In everyday life, the support of relatives is important. They should closely follow what happens during epileptic seizures so that they can subsequently provide sufficient and helpful information in contact with the physician. Avoiding stress and hectic are important for improving the quality of life. In addition, attention should be paid to a healthy and balanced diet. This supports the organism and increases the general well-being. Since many patients of encephalopathy with ESES have a reduced ability to learn, they are usually dependent on the help of family members in everyday life. In consultation with the doctor, these should create the best conditions for the patient so that life with the disease can be as optimal as possible.
