The encephalopathy with electrical status epilepticus during sleep (ESES) is an age-related epileptic syndrome with selbstlimitiertem course. The disease is characterized by pronounced epileptogenic activation during non-REM sleep. At the same time, neuropsychological regressions occur.
What is encephalopathy with ESES?
According to GRADCHEM, Encephalopathy with ESES is a rare epilepsy syndrome that often develops in childhood. It affects about 0.5 percent of childhood epilepsy. ESES is defined by an almost continuous epileptogenic activity during non-REM sleep. The physiological thalamocortical oscillation during sleep triggers a rapid secondary synchronization of focal “spike waves”.
Another common name for ESES is epilepsy with continuous spike wave discharges during sleep. The outbreak is particularly common in children between the ages of four and eight. Boys are more often affected than girls – in a ratio of 3: 2. The cause of this syndrome is unknown. It usually occurs in children who already have epilepsy.
A pathological skull MRI is detected in 30 to 60 percent of ESES patients. The reports describe cortical dysplasias such as polymicrogyria, hydrocephalus, and pre- or perinatal vascular lesions. In addition, thalamic changes are documented. In around 30 percent of those affected, ESES develops as a result of an atypical polymicrogyria expression of benign focal epilepsy in childhood with centrotemporal spike waves.
Generalized potentials for epilepsy during sleep result from a rapid secondary bilateral synchronization of a focal epileptogenic focus. The cause of a partial impairment of cognitive performance is the epileptogenic focus itself. A temporal relationship between the occurrence of ESES and neuropsychological regression has been proven.
Due to different etiologies, several causes can lead to the same epileptic syndrome. It is believed that ESES is an age-dependent response to differentiated lesions in predisposed children. Reports indicate a family history of epilepsy or febrile seizures in around 15 percent of cases. Genetic factors are therefore regarded as irrelevant for the causation.
Symptoms, ailments & signs
The first symptom is epileptic seizures 80 percent of the time. These occur semiologically very variably. The most frequently observed forms are unilateral or bilateral synchronous motor seizures. They occur mostly at night. Atypical absences while awake have been observed in many patients during the day.
Atonic and astatic, simple and complex focal seizures are possible. Tonic seizures are not documented. An early trait in children is markedly slowed learning ability. Many children develop problems in understanding language (receptive dysphasia) and in formulating their own thoughts (expressive aphasia).
As epilepsy progresses, different types of seizures can occur while awake or asleep. They can express themselves as moments of mental absence, as myoclonic seizures or as focal motor seizures. Although seizures disrupt sleep patterns, those affected often appear rested and refreshed the next morning. Some children stay seizure free during the night.
An EEG shows epileptic activity during sleep as continuous peaks and waves. This is especially significant during the portion of sleep called “slow-wave sleep.” EEG readings are often abnormal when awake.
The name of the syndrome is based on the findings of the EEG. Metabolic blood tests, which look at the functioning of body functions, show no abnormalities. Brain scans also do not provide results that deviate from the norm. The ESES syndrome has electrophysiological and clinical features in common with two other syndromes: Landau-Kleffner syndrome and benign focal epilepsy in childhood.
It is therefore defined by many specialists as the most pronounced form of a single clinical syndrome. With the onset of puberty, clinical epileptic seizures and ESES patterns in the EEG improve dramatically. Symptoms go away around three to four years after the syndrome occurs, often around the age of eleven.
The EEG result can normalize completely or show slightly pathological focal spike waves. In parallel to the improvement in the EEG, increases in cognitive performance can be determined. Behavioral problems decrease at the same time. Most people with severe residual neurocognitive problems persist. 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 the ESES is the most significant predictive factor for the extent of neurocognitive impairment. An effect of the therapy on the patient’s cognitive outcome has not yet been confirmed.
As a rule, encephalopathy with ESES results in epileptic seizures and disorders of the psyche. These symptoms can have a very negative impact on the patient’s life, greatly reducing the quality of life. The motor seizures occur more frequently at night and are therefore particularly unpleasant for the patient. The seizures often lead to lack of sleep, sleep disorders and severe fatigue. There are also complications in growing children.
Children in particular are affected by decreased intelligence in encephalopathy with ESES. They are slow to follow and absorb content. Speech disorders and word finding disorders also occur. Understanding language is also not easily possible. These symptoms can make children a victim of bullying.
The seizures can also occur during the day and make everyday life difficult. In some cases, the patient needs the help of another person. As a rule, it is not possible to completely treat encephalopathy with ESES, although the seizures can be limited. Due to the decreased intelligence, various therapies can be used to support the child. There are no further complications. However, the parents also suffer greatly from psychological complaints.
When should you go to the doctor?
If the person concerned suffers an epileptic seizure, a doctor should be consulted as soon as possible. In severe cases, people in the immediate vicinity should immediately call an emergency doctor in order to counteract life-threatening consequences. A medical evaluation should also be initiated after experiencing another seizure. The causes of the seizure disorder can vary and must be clarified by a doctor after each incident.
This is necessary in order to avoid permanent damage to health and to counteract attacks through optimal medical care. Nocturnal seizure disorders are of particular concern. An emergency doctor should be called immediately so that adequate first aid can be provided. If you experience inexplicable sleep disorders or unusual interruptions in your night’s sleep, it is advisable to consult a doctor. An extensive medical examination should be performed if the ability to learn is slow or if there is a deficit in understanding the language.
People who have noticeable problems getting their thoughts into the right words should see a doctor to determine the cause. If the person concerned often seems mentally absent, this is considered worrying. If the symptoms of mental absence occur in direct connection with an epileptic seizure, a doctor must be consulted immediately so that treatment can be given.
Treatment & Therapy
The goals of drug treatment are to improve the EEG and reduce epileptic seizures. The aim is to increase neuropsychological performance. Anticonvulsant therapy is also useful in patients without clinical seizures. Based on experience with smaller patient groups, valproate is a suitable first therapy in high doses.
Further therapy attempts can be made with lamotrigine or levetiracetam. If the ESES develops from a previous Roland epilepsy, Sultiam is recommended. If there is no progress, high-dose corticosteroids are given. This long-term treatment produces a significant improvement in up to 77 percent of patients.
Often this therapy has to be stopped because of the onset of side effects. Other drugs can be used to control the seizures. These include sodium valproate (Epilim), ethosuximide (Zarontin), and clobazam (Frisium). Timely evaluation of epilepsy surgery is made especially in cases of focal brain lesion.
Outlook & forecast
The prognosis for encephalopathy with ESES is normally to be classified as favorable. The disease is an age-related disorder. This means that it only occurs in a certain time window in the course of life.
It is only diagnosed in children between four and eight years of age. In the further development and growth process, 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 arises.
The focus of treatment is on reducing the child’s epileptic seizures. The aim is to reduce the frequency and intensity of the seizure disorder. Every seizure can lead to complications and risks, which should be minimized through the administration of medication and good care. Since the 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 the symptoms are alleviated in adolescence, the disease is usually diagnosed in patients who suffer from other disorders or abnormalities. Therefore, the overall situation must be considered in order to be able to make a sufficient forecast.
The mechanisms underlying the development of ESES are complex and have not yet been fundamentally clarified. Effective prevention of the disease has not yet been identified.
In most cases, those affected with encephalopathy with ESES have no direct options or follow-up measures available. Those affected with this disease are usually dependent on purely symptomatic treatment of the disease in order to prevent further complications or complaints. Whether the encephalopathy can be completely cured with ESES cannot be universally predicted.
This disease may also reduce the life expectancy of the person affected. Treatment is carried out with the help of drugs. These should be taken regularly and in the correct dosage. If anything is unclear or has other questions, a doctor should always be contacted first. In many cases, patients rely on medication for life to relieve the symptoms of encephalopathy with ESES.
If the illness leads to an epileptic fit, a hospital or emergency doctor must be called immediately to prevent the death of the person concerned. The care and support of friends and family can also have a positive effect on the further course of this disease. In many cases, psychological treatment is also necessary.
You can do that yourself
In the case of sleep disorders of any kind, the person affected should seek competent medical help. The interruptions to sleep are unusual and need to be watched more closely so that better care and treatment can take place.
In most cases, encephalopathy patients with ESES are unaware of the physical processes taking place during their night’s sleep. You have gaps in your memory in the morning and are therefore dependent on the observations of others. Since the possibilities for self-help are minimal with this disease, the person affected is well advised to get examined and treated in good time in the event of irregularities.
Support from relatives is important in everyday life. You should follow the events of epileptic seizures closely in order to be able to provide sufficient and helpful information in contact with the doctor. Avoiding stress and hectic rush are important for improving the quality of life. In addition, it is important to ensure a healthy and balanced diet. This supports the organism and increases general well-being.
Since many encephalopathy patients with ESES have a reduced ability to learn, they are mostly dependent on the help of family members in everyday life. In consultation with the doctor, these should create the best possible conditions for the patient so that a life with the disease can be as optimal as possible.