Diagnosis of epilepsy. What should you know about her?

Diagnosis of epilepsy in children and adults. What does the examination for suspected disease consist of? When are genetic or metabolic tests needed?

Main conclusions:

• The EEG is the most important test for suspected epilepsy, but it does not confirm or refute the diagnosis.
• Not all patients will need an MRI (magnetic resonance imaging) and in many cases there is no need for repeat checks.
• Genetic and metabolic tests can be helpful in determining the appropriate treatment, as well as predicting the course of the disease.
• There are diseases whose symptoms can be mistaken for epileptic seizures.

Unfortunately, there is no single test for epilepsy that can confirm or refute this disease. In order to establish an accurate diagnosis, a series of checks and studies is required. For each individual patient, the number of necessary diagnostic measures will be different.

It is equally important to consult a neurologist who will analyze the diagnostic results and draw up a clinical picture of the disease. Only after that it will be possible to prescribe the treatment necessary in your case.

It is important to clearly define that we are talking about epilepsy, since there are a number of diseases that are similar to epileptic seizures in their manifestations, which can lead to an incorrect diagnosis and the use of antiepileptic drugs unnecessarily for many years. For example, syncopal attacks, nightmares in a dream, somnambulism, cases of respiratory arrest, Sandifer ‘s syndrome , hemiplegia and others.

Diagnosis of epilepsy in children

Basically, the diagnosis of epilepsy in a child begins with a consultation with a pediatrician, who conducts an initial examination and sends for primary checks.

In newborns, various movements may be observed, which may be similar in their manifestations to epileptic seizures. In this case, the neurologist of the maternity ward can assign additional checks to the child.

What is the examination for suspected epilepsy in children and adults

There is a certain number of studies that can become part of the diagnosis of this difficult disease.

• EEG

The EEG is the most important test for suspected epilepsy in children and adults. This study is able to identify and fix the epileptic activity of the brain.

There are several types of EEG that can be prescribed to a patient, depending on the type of seizures recorded in him:

• EEG in wakefulness;
• EEG during sleep;
• Video-EEG monitoring.

It should be borne in mind that the EEG conclusion itself cannot establish or refute epilepsy. There are situations when the patient has seizures, but the EEG does not record abnormal electrical activity of the brain. It also happens vice versa: when a healthy person during the test can be detected epileptic activity.

how an electroencephalogram is performed, how long the test lasts, and how it is deciphered, you can learn from the article “EEG in epilepsy”.

• MRI

MRI of the brain in the diagnosis of epilepsy in a child or adult is prescribed if the patient’s EEG results show a focal (focal) type of disease. In this case, the test can help determine the cause of the disease in some patients.

Magnetic resonance imaging is able to determine the structure of the brain, as well as to identify any anomalies: tumors, pathological foci, vascular anomalies, structural disorders, etc.

During the examination, the patient must lie still. If it is carried out for small children up to 6-7 years old and for patients who are not able to control their movements, general anesthesia is used.

• Genetic checks

Some patients with epilepsy require genetic testing. Especially children with developmental delay and uncontrolled epileptic seizures need them.

Sometimes genetic tests can guide doctors and help them decide on the right treatment for a given patient, as well as give a clearer prognosis regarding the development and course of the disease in the future.

There are dozens of epileptic syndromes, the cause of which lies in genetics. Hundreds of mutations in various genes can lead to epilepsy, and therefore sometimes genetic tests are simply indispensable.

Genetic tests for epilepsy may include:

• genetic panel – helps to identify genetic mutations in genes associated with epilepsy;
• genetic chip – checks for changes in chromosomes;
• full exome check – checks for individual mutations throughout DNA associated with various proteins;
• Sequencing (full genome sequencing) – determines the exact code for a particular gene.

Not every child or adult will need genetic testing. They are necessary in the case of drug -resistant epilepsy, as they can help determine the cause of the disease. They are also indispensable when planning pregnancy in patients with epilepsy. When it comes to young parents, it is important to determine the chance of mutations in the next child.

• Metabolic checks

Numerous metabolic diseases can lead to epilepsy at an early age in newborns. Despite the large number of possible diseases, they appear quite rarely.

When no clear cause of epilepsy is identified, a series of checks for metabolic abnormalities should be performed on an MRI or description of the birth of the child (eg, hypoxia during childbirth), in parallel with genetic tests.

Preoperative checks for epilepsy

Preoperative checks include many investigations to ensure that there is a clear epileptic focus or network that can be removed without causing significant harm to the child or adult.

At the first stage of checks, EEG video monitoring is mandatory, during which several seizures were recorded. This type of study helps to accurately determine the place of the onset of an attack in the brain, as well as fix its external manifestations.

In many cases, additional checks and studies will also be required:

• neuropsychological assessment;
• radiological studies (PET, SPECT, DTI, fMRI , EEG- fMRI , MEG).

In each individual case, different checks before surgery are used, and each of them helps to decide on the advisability of surgical treatment after each stage of the tests.

Unfortunately, not all medical centers have the necessary equipment for testing or specialists who produce certain studies. Often the variability of checks is limited.

Once again, we want to remind you that each child and adult will be assigned an individual examination if epilepsy is suspected.