As Doose syndrome is called an extremely rare form of epilepsy that occurs only in childhood. In addition to muscle spasms and falls, there are also pauses in consciousness. Treatment with medication, hormones, or diets is possible. However, whether and to what extent improvements occur differs from patient to patient.
What is Doose Syndrome?
The myoclonic-astatic epilepsy, also known as MAE known or Doose syndrome, is a so-called stand-alone syndrome. Doose syndrome belongs to the group of “idiopathic generalized epilepsy”. Doose syndrome was first documented by Rolf Kruse, a German epileptologist, in 1968.
According to DigoPaul, Hermann Doose, German epileptologist and child neurologist, described the extremely rare disease in 1970. An epilepsy manifested by recurrent seizures. As suddenly as a seizure occurs, it usually stops again quickly.
Today there are myriad different forms and types of epilepsy. Doose syndrome is a special type; it occurs mainly in childhood. Around 1 in 10,000 children is actually affected.
The disease begins at a young age; predominantly the patients are not older than five years. During the examinations, the brain looks up unobtrusively; the reason why a doose syndrome actually occurs has not yet been clarified.
However, medical professionals assume that a hereditary predisposition could be responsible. Studies have shown that parents and siblings of Doose syndrome patients had similar seizures. So far, however, there is no confirmation.
Symptoms, ailments & signs
Doose syndrome is characterized by the fact that there are different types of seizures. These can vary in strength, although the cramps can also occur several times a day. In Doose syndrome, the muscles tense up; Sudden relaxation is also possible.
For this reason, doctors also refer to Doose syndrome as epilepsy with myoclonic (cramping) and astatic (relaxed) seizures. If there is a seizure, the child falls to the ground. As a rule, the children get up after the fall, as the attack only lasts a few moments. Only rarely occurs unconsciousness one. Since the child falls – without warning – serious injuries can be the result.
Concussions, lacerations, broken teeth are possible. Pauses in consciousness, i.e. the brief mental absence, can also occur. When children have a seizure, they are no longer aware of their surroundings.
Diagnosis & course
Imaging procedures, which are initiated by the doctor at the beginning, usually do not show any abnormalities. Whether magnetic resonance therapy or computed tomography – neither procedure can help determine Doose syndrome, but only serve to rule out other possible diseases.
Also, the electroencephalography be derived in which brain waves, appears to onset of the disease is still relatively inconspicuous. Only in the further course of the disease can the doctor 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 the patient has normal psychomotor development and / or the seizures have been documented from the age of 6 months and before the age of 6.
Doose syndrome is also certified if there are no brain morphological abnormalities and other diseases, such as other forms of myoclonic epilepsy, can also be ruled out. As a rule, numerous other diseases and forms of epilepsy have to be ruled out in order to be able to diagnose Doose syndrome.
The course of the disease is different. In many children the disease gets better over time; seizures were still documented in other patients, even during the period of active treatment. If the seizures do not improve, mental development can be impaired. If not treated, there is a possibility that a mental handicap will occur. Long-term effects are also possible if – despite treatment – there is no improvement in the seizures.
When should you go to the doctor?
Immediate medical treatment is necessary for Doose syndrome. If you have an epileptic fit, you should call an emergency doctor or go to the hospital. If possible, falls or other injuries must be prevented during the seizure. The first visit to the doctor usually takes place after the epileptic attack. Cramps in the muscles or sudden relaxation of the patient can also indicate the disease and should be examined by a doctor.
A sudden loss of consciousness can also indicate Doose syndrome. The children are often absent for a short period of time or have difficulty concentrating. In Doose syndrome, a general practitioner can primarily be seen. Further diagnosis can then be made with the help of an MRI. Medical treatment is also necessary in the event of an injury after a seizure. If treated early enough, complications and intellectual disabilities can be avoided relatively well.
Treatment & Therapy
As with the course of the disease, each patient reacts differently to treatment. For this reason, it is important that the therapy is tailored to the individual. There are several active substances (valproic acid and benzodiazepines) that are used to suppress any seizures.
The doctor should talk to the child’s parents in advance about 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 – especially with long-term medication – bring the desired success. At times, more severe seizures may be possible at the beginning of treatment.
If the doctor notices that the drugs are not having the desired effect, hormones can also be used. A ketogenic diet is also an option. This is a high-fat, but very low-carbohydrate diet.
This diet is usually accompanied by a professional nutritionist and only works if the patient and the parents adhere to it. Anticonvulsants phenytoin, oxcarbazepine, vigabatrin, and carbamazepine have little to no effect and are no longer considered these days.
Outlook & forecast
In the case of Doose syndrome, no general prediction can be made about the further course. This depends very much on the respective health condition of the person concerned and can therefore vary greatly. As a rule, however, most complaints can be limited by eating the right diet and taking medication. They suffer from severe cramps, which can be relieved 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, people may suddenly lose consciousness and fall to the ground. As a result, various injuries can occur. Furthermore, most patients show a mental absence, so that they need special support in school so that there are no further complications in adulthood. Those affected are also dependent on regular medical examinations.
If the Doose syndrome is not treated, self-healing will not occur and intellectual disability will occur. Muscle complaints are also retained, so that patients can permanently injure themselves from falls. This may also limit the patient’s life expectancy.
As the cause is not yet known, doose syndrome cannot be prevented. However, it is important that Doose Syndrome is treated as early as possible to prevent any consequential damage. It is important that the seizures are documented so that – if the active ingredients do not produce the desired result – the doctor can react quickly and prescribe other drugs. Sometimes combinations of drugs, hormones, and diets are the key to success.
In Doose syndrome, there are usually no measures or options for follow-up care available to those affected. The person concerned is first of all dependent on symptomatic treatment of the complaints so that further complications and, in the worst case, death of the person concerned are prevented. Since this is a genetically determined disease, genetic counseling can also be carried out if you want to have children.
This may prevent the syndrome from being passed on to descendants. In Doose syndrome, patients are primarily dependent on medication. This can partially suppress and limit the epileptic seizures. When taking the medication, ensure that it is taken correctly, and the patient should always adhere to the doctor’s prescription.
If anything is unclear or in doubt, you should always consult your 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 syndrome. The help of an expert may also be needed to create an appropriate nutrition plan. With early treatment, the life expectancy of the person affected is usually not reduced by Doose syndrome.
You can do that yourself
In addition to medical help, there is the option 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 nutritional advice. Its effect in the body is unclear and the diet also has side effects such as fatigue, constipation or vomiting. But according to evidence from case series, some children who suffered from Doose Syndrome were able to continue to live without seizures after the diet.
In the event of a seizure, parents can give their child great support. Since 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 attack should also be noted. Even if a seizure looks frightening, it is fortunately only rarely life-threatening.
During the spasm, it is important to keep calm and remove objects that are lying around. It may be possible to place a blanket or soft mat next to the cramping child. Otherwise it is advisable not to stop the child from moving during the seizure. The seizure usually stops by itself; if it lasts too long, emergency medication can help.