Doose syndrome is the name given to an extremely rare form of epilepsy that occurs exclusively in childhood. In addition to muscle spasms and falling seizures, it also causes recurrent pauses in consciousness. Treatment with medication, hormones or diets is possible. However, whether and to what extent improvements occur varies from patient to patient.
What is Doose syndrome?
Myoclonic-astatic epilepsy, also known as MAE or Doose syndrome, is a so-called syndrome in its own right. Medical experts place Doose syndrome in the group of “idiopathic generalized epilepsy.” Doose syndrome was first documented by Rolf Kruse, a German epileptologist, in 1968. Hermann Doose, a German epileptologist and pediatric neurologist, described the extremely rare condition in 1970. Epilepsy is manifested by recurrent seizures. As suddenly as a seizure comes, as quickly it usually stops again. Today, there are countless different forms and types of epilepsy. Doose syndrome is a special type; it occurs predominantly in childhood. About 1 in 10,000 children is actually affected.
Causes
The disease begins at a young age; predominantly, patients are no older than five years. During examinations, the brain looks inconspicuous; the cause of why Doose syndrome actually occurs has not yet been determined. However, medical experts assume that a hereditary predisposition may be responsible. Studies have shown that parents and also siblings of Doose syndrome patients have had similar seizures. To date, however, there has been no confirmation.
Symptoms, complaints, and signs
Characteristic of Doose syndrome is the fact that there are different types of seizures. Those can vary in severity, and the seizures can occur several times a day. In Doose’s syndrome, the muscles cramp; abrupt slackening is also possible. For this reason, physicians also refer to Doose syndrome as epilepsy with myoclonic (cramping) and astatic (flaccid) seizures. If a seizure occurs, the child falls to the ground. Usually, children get up after the fall because the seizure lasts only a few moments. Only rarely does unconsciousness occur. Because the child falls – without warning – serious injuries can sometimes result. Concussions, lacerations, broken teeth are possible. Pauses in consciousness, i.e., brief mental absence, can also occur. Children become unaware of their surroundings when they suffer a seizure.
Diagnosis and course
Imaging tests ordered by the medical professional at the onset usually show no abnormalities. Whether magnetic resonance therapy or computed tomography – both procedures cannot contribute to the determination of Doose syndrome, but only serve the fact to exclude other possible diseases. Electroencephalography, in which brain waves are derived, is also relatively inconspicuous at the onset of the disease. Only in the further course of the disease can the physician detect abnormal theta rhythms and spike-wave complexes. In 1989, criteria were defined that lead to the diagnosis of Doose syndrome. The diagnosis is made when there is normal psychomotor development in the patient and/or seizures have been documented from 6 months of age and before 6 years of age. Doose syndrome is also certified when brain morphological abnormalities are absent and other diseases, such as other forms of myoclonic epilepsy, have also been ruled out. As a rule, therefore, numerous other diseases and forms of epilepsy must be excluded in order to make the diagnosis of Doose syndrome. The course of the disease varies. In many children, the disease improves with time; in other patients, seizures have continued to be documented, even during the period of active treatment. If the seizures do not improve, mental development may be impaired. If not treated, there is a possibility that mental retardation will occur. Late effects are also possible if – despite treatment – there is no improvement in seizures.
When should you see a doctor?
Immediate medical treatment is necessary for Doose syndrome.Should an epileptic seizure occur, an emergency physician should be called or the hospital should be visited. During the seizure, falls or other injuries must be prevented if possible. The first visit to the doctor is then usually after the epileptic seizure. Cramps in the muscles or a very abrupt fainting of the patient can also indicate the disease and should be examined by a doctor. At the same time, sudden loss of consciousness may also indicate Doose syndrome. Children are often mentally absent for a short period of time or have difficulty concentrating. In the case of Doose syndrome, a general practitioner may be consulted in the first instance. Further diagnosis can then be made with the help of an MRI. In case of injury after a seizure, medical treatment is also necessary. If the disease is treated in time, this can relatively well prevent complications and mental retardation.
Treatment and therapy
As with the course of the disease, each patient responds differently to treatment. For this reason, it is important that therapy be individualized. There are several agents (valproic acid and benzodiazepines) that are used to suppress any seizures. The doctor should discuss in advance with the child’s parents whether and what side effects are possible and what the chances are that the seizures can actually be alleviated. Combinations with lamotrigine or ethosuximide are also possible and can bring the desired success – especially with long-term medication. Occasionally, more severe seizures may be possible at the beginning of treatment. If the physician notices that the medication does not bring the desired success, hormones can also be used. A ketogenic diet is also an option. This is a diet that is high in fat but very low in carbohydrates. This diet is usually accompanied by a professional nutritionist and only works if the patient and parents adhere to it. Anticonvulsants phenytoin, oxcarbazepine, vigabatrin, and carbamazepine show little to no effect and are not considered these days.
Outlook and prognosis
In Doose syndrome, no general prediction can be made about the further course. This depends very much on the particular health condition of the affected person and can therefore vary greatly. As a rule, however, most of the symptoms can be well limited by a proper diet and by taking medication. The affected person suffers from severe cramps, which can be alleviated by taking the medication. This also normalizes the further development of the patient so that it can take place without restrictions. However, in severe cases, sufferers may suddenly lose consciousness and fall to the ground. This can result in various injuries. Furthermore, most patients show mental absence, so that they need special support at school to avoid further complications in adulthood. Likewise, those affected are dependent on regular examinations by doctors. If Doose syndrome is not treated, it does not heal itself and mental retardation occurs. Muscle complaints also remain, so that patients can permanently injure themselves through falls. This may also limit the patient’s life expectancy.
Prevention
Because no cause is known to date, Doose syndrome cannot be prevented. However, it is important that Doose syndrome be treated as early as possible to prevent any sequelae. It is important that the seizures are documented so that – if the active substances do not bring the desired result – the physician can react quickly and prescribe other preparations. Sometimes combinations of medications, hormones and diets are the key to success.
Follow-up
In Doose syndrome, there are usually no aftercare measures or options available to the affected person. In this case, the affected person must first rely on symptomatic treatment of the symptoms to prevent further complications and, in the worst case, death of the affected person. Since this is a genetic disease, genetic counseling can also be performed if the patient wishes to have children. Possibly, this will prevent the syndrome from being inherited by the descendants.Patients with Doose syndrome are mainly dependent on taking medication. This can partially suppress and limit the epileptic seizures. When taking the medication, care must be taken to ensure that it is taken correctly, whereby the patient should always adhere to the doctor’s prescription. In case of uncertainty or doubt, always consult the doctor or pharmacist. In general, a high-fat diet with a low-carbohydrate diet also has a positive effect on the further course of Doose’s syndrome. This may also require the help of an expert to create an appropriate diet plan. If treated early, Doose syndrome usually does not reduce the life expectancy of the affected person.
Here’s what you can do yourself
In addition to medical help, there is the possibility of a special ketogenic diet. This is a low-carbohydrate but extremely high-fat diet. This diet requires a lot of discipline, as the parents and their child are bound by strict rules. It can last for months or even years and takes place with the support of professional nutrition counseling. Its effect in the body is unclear and the diet also entails side effects such as fatigue, constipation or vomiting. But according to case series, some children suffering from Doose’s syndrome have been able to live seizure-free after the diet. In the event of a seizure, parents can provide great support to their child. As it can be helpful to observe the seizures closely, it is advisable to record the seizures in the form of diary entries or as a video. The duration of the seizure should also be noted. While a seizure may look frightening, fortunately it is rarely life-threatening. During the seizure, it is important to remain calm and remove any objects lying around. It may be possible to place a blanket or soft mat next to the convulsing child. Otherwise, it is advisable not to stop the child’s movements during the seizure. Usually the seizure stops on its own; if it lasts too long, emergency medications may help.