Ohtahara syndrome is an extremely rare disease in newborns. Sick infants suffer from epileptic seizures. Both sexes are affected by the disease.
What is Ohtahara Syndrome?
Ohtahara syndrome or early infantile myoclonic encephalopathy is understood as a developmental disorder of the brain. Those affected are newborns who have muscle tension problems and suffer from epileptic seizures. The infants suffer a spontaneously occurring seizure. See acronymmonster for Definition of Hemihypertrophy in English.
This seizure is triggered by an antecedent cause. Ohtahara syndrome occurs exclusively in infants and within early childhood development. Since there are only about 200 documented cases of the early childhood brain disease with epilepsy worldwide, it is a very rare disease.
So far, no gender differences have been found in the documented cases with regard to the probability of occurrence. The disease occurs equally in newborn boys and girls. The first symptoms appear in the sick infants shortly after birth.
The first description was in 1976. The Japanese epileptologist Ohtahara is the namesake of this very rare disease. He researched Ohtahara syndrome in collaboration with some colleagues.
The cause of Ohtahara syndrome is a severe developmental disorder of the brain. This is specifically a severe disruption of brain function. However, the research results of the scientists and neurologists have not yet been able to offer a complete explanation.
It is known that there is a severe malformation of the brain tissue in newborns. The malformations affect either the entire brain or only some parts of the brain. It always affects different brain regions in the patient.
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. Gender-specific, it was found that mutations of the X chromosomes occur in male patients.
Symptoms, Ailments & Signs
A first sign of a disease can be seen in the reduction of the overall tension of the body muscles. This can be seen shortly after birth. In addition, newborns suffering from early infantile myoclonic encephalopathy have difficulties with head posture immediately after birth.
Due to the lack of muscle tension, it is not possible for them to hold up their heads themselves, as is appropriate for their age. In the first weeks of life or within the first three months of life, patients suffer epileptic seizures. Sometimes a seizure occurs after birth.
Initially, short seizures or infantile spasms occur, which become stronger as the disease progresses. This leads to muscle tension in several areas of the body, which can last from a few seconds to a few minutes. The muscle tension is expressed in cramps, which vary from child to child.
In addition, rhythmic twitching of the extremities can occur. One or more extremities can be affected. As a result of a short seizure, the consciousness of the sick infant is usually intact. Persistent seizures can lead to impaired consciousness.
After an attack, the patient often has a reduced response. For example, it may be that the infants only react to a response after about a minute.
Diagnosis & course of disease
The diagnosis of Ohtahara syndrome occurs in two different medical ways. The damage to the brain is determined using magnetic resonance therapy (MRI) in a hospital. The imaging process examines the structure and functional activity of the various brain regions.
The areas in which the damage has occurred are localized above 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.
Abnormalities can also be identified in a seizure-free period. The EEG can be used with awake as well as with sleeping children. As the disease progresses, other epilepsy syndromes can occur. These include West syndrome from the age of four months and Lennox-Gastaut syndrome between the ages of around two and eight years.
Ohtahara syndrome usually has a very poor prognosis. There is no curative therapy. Many children die from complications in their first year of life. Since the disease can hardly be controlled with medication, only symptomatic treatment remains to reduce the risk of complications. The severity and type of each epileptic seizure varies from child to child and from person to person.
A variety of complications can occur during the attack, some of which can lead to death. The most common complications include injuries such as bite wounds, lacerations, vertebral fractures and much more. Fatal accidents often occur as a result of aspiration of food or water, as well as cessation of breathing, including a lack of oxygen supply to the brain.
In 75 percent of all cases of illness, the western syndrome develops as a complication with attacks of lightning, nodding and Salaa. These are characterized by whole-body jerks, nodding head movements, and rapid forward bending of the head and trunk. West syndrome is very difficult to treat and usually leads to severe cognitive impairment, behavioral problems and other mental disorders in the long term.
About five percent of patients do not survive the first five years of life. Another complication of Ohtahara syndrome is Lennox-Gastaut syndrome. This disease 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 go to the doctor?
Ohtahara syndrome occurs in newborns. Parents and carers of the child therefore have a special responsibility if there are irregularities in the health of the offspring. There is a need for action if there are irregularities in the muscular system. If there is a loss of muscle tension, a doctor is needed. If the infant shows unusual behavior, this should be observed carefully. See a doctor if you experience cramps, refusal to eat, tearfulness, or persistent screaming.
In the event of an acute health-threatening condition, an ambulance must be called immediately. Disturbance of consciousness or loss of consciousness are alarming conditions that require immediate action. First aid measures must be provided until the arrival of the emergency services to ensure the survival of the newborn.
Shortness of breath, lack of oxygen or a blue discoloration of the skin must be treated immediately by an emergency doctor. There is an undersupply of the organism which, if left untreated, can result in death. In addition to persistent cramps, body stiffness is a concern. If the child does not respond appropriately to social interactions, a medical evaluation is required. A delayed reaction is unusual and needs to be investigated. If you experience rhythmic twitching or seizures, consult a doctor immediately.
Treatment & Therapy
Treating infants with Ohtahara syndrome is very difficult. Many of the sick children do not survive the first months or the first year of life. In almost all known cases of sick children, there is a resistance to the medication used for the epileptic seizures that have been experienced.
ACTH treatment has been successfully applied in a few cases. In this treatment, the hormone adrenocorticotropin (ACTH) is used intramuscularly. ACTH is a pituitary hormone that is injected directly into a muscle to provide relief. The administration of the hormone is intended to reduce the frequency of seizures and, ideally, make them disappear.
In the further course, the children suffering from the Ohtahara syndrome show a developmental disorder. In individual cases, it must be checked which brain regions exhibit malformations. Accordingly, individual disturbances are to be expected, which must be addressed with various measures.
All therapy methods are still about alleviation and not about healing. Cognitive as well as psychomotor development will permanently lag behind children of the same age.
Outlook & Forecast
The medical prognosis for Ohtahara syndrome, which occurs in early childhood, is not particularly good. It is clear that the extremely rare disease leads to permanent impairment of the quality of life. Early infantile epileptic encephalopathy with suppression burst has only been diagnosed 200 times worldwide. This makes it one of the rare diseases for which there are hardly any treatment options. That doesn’t exactly improve the prospects.
It is also problematic that a relatively large number of newborns with Ohtahara syndrome usually develop other forms of epilepsy during 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 between the ages of two and eight years.
It can be stated that such children remain impaired in their development because of brain damage. In particular, the psychomotor and cognitive abilities are significantly lower throughout life than in children who are not ill. Nevertheless, the prospects differ from child to child. The extent of the brain damage, for example, is decisive for the prognosis. The type of brain damage present can also improve or worsen the prognosis.
Overall, the prognosis for Ohtahara syndrome is judged by doctors to be bad to very bad. However, the reason for this assessment does not lie in the mental impairments. Rather, it is to be found in the high mortality rate among children.
Preventive measures cannot be taken with Ohtahara syndrome. The brain damage is not yet detectable in the womb. Immediately after birth, they are noticed due to the strong abnormalities and then diagnosed.
In most cases, those affected with Ohtahara syndrome have either very few or even no special aftercare measures available. Since this is also a hereditary disease, it cannot usually be completely cured, so that the affected person always has to rely on medical examination and treatment. This is the only way to prevent the symptoms from getting worse.
If those affected wish to have children, a genetic test and counseling is recommended to prevent the disease from reoccurring. The treatment itself is carried out using various medications. Care should always be taken to ensure that the medication is taken regularly and that the dosage is correct.
In the case of children, the parents must control the prescribed intake. The children are also dependent on intensive support and care in their everyday lives. With the help of loving and intensive conversations, depression or other psychological upsets can also be prevented. It cannot generally be predicted whether Ohtahara syndrome will result in a reduced life expectancy for those affected.
You can do that yourself
People who suffer from Ohtahara syndrome can lead a relatively symptom-free everyday life with a few measures. First of all, it is important to take precautions against possible epileptic seizures. Renovation measures in the household and registration at an appropriate school are just two necessary steps. Since the disease can occur in different stages and the symptoms can vary from patient to patient, the necessary steps should always be taken in consultation with the doctor.
If the person concerned suffers an epileptic seizure, the relative or the person present must provide first aid. The patient should be laid down and stripped of their upper body. In addition, it should be placed in a safe environment where there is no risk of injury. At the same time, the emergency services should be called. Avoid shaking or shaking the affected person, as these measures do not bring any improvement in an epileptic seizure. However, children should be restrained if they have another seizure to prevent an accident.
The patient must then be examined in a specialist clinic. If the seizures recur, other changes may need to be made, such as moving to a quieter area or changing schools.