Ohtahara syndrome is an extremely rare condition that occurs in newborns. Infants with the disease experience epileptic seizures. Both sexes are affected by the disease.
What is Ohtahara syndrome?
Ohtahara syndrome or early infantile myoclonic encephalopathy refers to a developmental brain disorder. Those affected are newborns who present with muscle tension problems as well as suffer from epileptic seizures. In this case, the infants suffer a spontaneously occurring seizure. This seizure is triggered by an antecedent cause. Ohtahara syndrome occurs exclusively in infants and within early childhood development. Since only about 200 documented cases of the early childhood brain disorder with epilepsy have been reported worldwide to date, it is a very rare disorder. To date, no sex differences have been found in the documented cases with respect to the likelihood of occurrence. The disease thus occurs equally in newborn boys and girls. The first symptoms appear in affected infants shortly after birth. The first description was made in 1976 by the Japanese epileptologist Ohtahara, who gave his name to this very rare disease. He researched Ohtahara syndrome in collaboration with several colleagues.
Causes
The cause of Ohtahara syndrome is a severe developmental disorder of the brain. This is specifically a severe disorder of brain function. However, the research results of scientists and neurologists has not been able to provide a complete explanation so far. What is known is that there is a severe malformation of the brain tissue in the newborns. The malformations affect either the entire brain or only some parts of the brain. The affected brain regions are always different. The first signs of severe brain damage appear shortly after birth. Patients with Ohtahara syndrome may have mutations in the brain or structural brain malformations. Sex-specifically, male patients have been found to have mutations of the X chromosome.
Symptoms, complaints, and signs
An initial sign of disease can be seen in the reduction of the overall tension of the body muscles. This can be detected shortly after birth. In addition, newborns suffering from early infantile myoclonic encephalopathy have difficulty with head posture immediately after birth. They are unable to hold their head by themselves in an age-appropriate manner due to the lack of muscle tone. During the first weeks of life or within the first three months of life, patients experience epileptic seizures. Sometimes seizures occur as early as after birth. Initially, short seizures or infantile spasms occur, which become stronger later in the course of the disease. Muscle tension occurs in several areas of the body and can last from a few seconds to several minutes. The muscle tensions are expressed as cramps, which vary from child to child. In addition, rhythmic twitching of the extremities may occur. One or more extremities may be affected. As a result of a brief seizure, the consciousness of the affected infant is usually intact. If the seizure lasts for a longer period of time, consciousness may be impaired. Often, after a seizure, the patient’s reaction is diminished. For example, infants may not respond to a response until about one minute has elapsed.
Diagnosis and course of the disease
Ohtahara syndrome is diagnosed by two different medical routes. Damage to the brain is detected via magnetic resonance imaging (MRI) in a hospital setting. The imaging procedure looks at the structure and functional activity of different brain regions. The areas where the damage has occurred are localized via it. Medical evidence of epileptic seizures is provided by an electroencephalogram (EEG). This device records the electrical activity of the brain. With the EEG, the nerve cells in the brain are observed and voltages in the brain can be determined. It can also be used to determine abnormalities during a seizure-free period. The EEG can be used on both awake and sleeping children.In the further course of the disease, other epilepsy syndromes may occur. These include West syndrome beginning at 4 months of age and Lennox-Gastaut syndrome at approximately two to eight years of age.
Complications
Ohtahara syndrome usually has a very poor prognosis. There is no curative therapy. Many children die in the first year of life from complications that arise. Since the disease can hardly be controlled by medication, only symptomatic treatment remains to reduce the risk of complications. The severity and type of each epileptic seizure varies from child to child as well as in the affected individual. A variety of complications can occur during the seizure, possibly leading to death. The most common complications include injuries such as bite wounds, lacerations, fractured vertebrae and more. Fatal accidents often occur as a result of aspiration of food or water, as well as suspension of breathing, including undersupply of oxygen to the brain. In 75 percent of all cases of illness, the West syndrome develops as a complication with lightning, pitching and salaam seizures. These are characterized by twitching of the whole body, nodding head movements, and rapid forward bending of the head and trunk. West syndrome is very difficult to treat and usually results in severe long-term cognitive impairment, behavioral problems and other mental disorders. Approximately five percent of patients do not survive the first five years of life. Another complication of Ohtahara syndrome is Lennox-Gastaut syndrome. This condition is also difficult to treat, usually leads to severe cognitive impairment and can be fatal in five percent of cases in the first few years of life.
When should you see a doctor?
Ohtahara syndrome occurs in newborns. Therefore, guardians and caregivers of the child have a special responsibility when there are irregularities in the health of the offspring. If there are irregularities in the muscular system, action is required. If a loss of muscle tone develops, a physician is needed. If the infant shows unusual behavior, it should be observed carefully. If cramps begin, there is a refusal to eat, weepiness or persistent crying, a doctor should be consulted. In case of an acute health-threatening condition, an emergency doctor must be called immediately. Disturbance of consciousness or loss of consciousness are alarming conditions requiring immediate action. First aid measures must be provided until the arrival of the emergency medical services to ensure the survival of the newborn. Respiratory distress, lack of oxygen, or a blue discoloration of the skin must be attended to immediately by an emergency physician. There is an undersupply of the organism, which can end in death if left untreated. In addition to persistent cramping, stiffness of the body is worrisome. If the child does not respond to social interactions in an appropriate manner, medical evaluation is needed. Delayed response is unusual and needs to be clarified. If rhythmic twitching or seizures are experienced, a physician should be consulted immediately.
Treatment and therapy
Treatment of infants with Ohtahara syndrome is very difficult. Many of the affected infants do not survive the first few months of life or the first year of life. In almost all known cases of affected infants, there is resistance to the medicinal measures used for the epileptic seizures experienced. ACTH treatment has been successfully used in a few cases. In this treatment, the hormone adrenocorticotropin (ACTH) is used intramuscularly. ACTH is a pituitary gland hormone that is injected directly into a muscle to provide relief. Administration of the hormone is intended to reduce the frequency of seizures and, at best, make them disappear. As the disease progresses, children afflicted with Ohtahara syndrome exhibit developmental disabilities. In individual cases, it must be examined which brain regions show malformations. Accordingly, individual disorders are to be expected, which must be addressed with various measures. Nevertheless, all therapy methods are aimed at alleviation and not at healing. The cognitive as well as the psychomotor development will remain permanently behind children of the same age.
Outlook and prognosis
The medical prognosis for early-onset Ohtahara syndrome is not particularly good. What is clear is that the extremely rare disorder leads to permanent impairments in quality of life. Early infantile epileptic encephalopathy with “suppression-burst” has been diagnosed only 200 times worldwide. This makes it one of the rare diseases for which there are hardly any treatment options. This does not exactly improve the outlook. It is also problematic that a relatively high number of newborns with Ohtahara syndrome usually develop other forms of epilepsy in the course of this form of epilepsy. About three-quarters of all affected newborns with Ohtahara syndrome develop West syndrome after a few months. Others develop Lennox-Gastaut syndrome at the age of two to eight years. It should be noted that such children remain impaired in their development because brain damage is present. In particular, psychomotor and cognitive abilities are significantly lower throughout life than in children who do not have the disease. Nevertheless, the outlook varies from child to child. For example, the extent of the brain damage is decisive for the prognosis. The type of brain damage present can also improve or worsen the prognosis. Overall, the prognosis in Ohtahara syndrome is assessed by medical experts as poor to very poor. However, the reason for this assessment is not the mental impairments. Rather, it is to be found in the high mortality rate of the children.
Prevention
Preventive measures cannot be taken in Ohtahara syndrome. The brain lesions are not yet detectable in the womb. Immediately after birth, they are noticed because of the severe abnormalities and then diagnosed.
Follow-up
Affected persons have either very few or even no special measures of aftercare available in most cases of Ohtahara syndrome. Since this is also a hereditary disease, it can usually not be completely cured again, so that the affected person is always dependent on a medical examination and treatment in this case. This is the only way to prevent a further worsening of the symptoms. If the affected person wishes to have children, a genetic examination and counseling is recommended to prevent the recurrence of the disease. The treatment itself is carried out using various medications. Care should always be taken to ensure that the medication is taken regularly and also in the correct dosage. In the case of children, parents must monitor the prescribed intake. Likewise, the children depend on intensive support and care in their daily lives. With the help of loving and intensive conversations, depression or other psychological upsets can also be prevented. Whether Ohtahara syndrome will result in a decreased life expectancy for the affected person cannot be generally predicted.
Here’s what you can do yourself
Individuals suffering from Ohtahara syndrome can lead a relatively symptom-free daily life by taking a few steps. First, it is important to take precautions for any epileptic seizures. Modification measures in the household as well as enrollment in an appropriate school are only two necessary steps. Since the disease can occur in different stages and symptoms can vary from patient to patient, the necessary steps should always be taken in consultation with the doctor. If the affected person suffers an epileptic seizure, one must provide first aid as a relative or person present. The patient should be laid down and undressed at the upper part of the body. In addition, he should be taken to a safe environment where there is no risk of injury. This should be accompanied by calling the ambulance service. Shaking or jarring the affected person should be avoided, as these measures do not bring about any improvement in an epileptic seizure. Children should, however, be restrained if they have another seizure so that an accident does not occur. The patient must then be examined in a specialized clinic. If seizures recur, further changes may need to be made, such as moving to a quieter environment or changing schools.
