Content

Introduction

Epilepsy is a chronic brain disorder that affects people all over the world. It is characterized by the repetition of phenomena called Seizures, usually of short duration (seconds or a few minutes), which can manifest themselves with alteration of the state of consciousness and / or with involuntary movements affecting only one part of the body (partial motor crisis). There may also be: more or less complex partial seizures (simple or complex partial sensory seizures) or generalized crises affecting the whole body causing loss of consciousness and, at times, loss of control of the sphincters.

Partial seizures are often heralded by defined disorders aura characterized by a sense of nausea, digestive difficulties, altered state of consciousness, and scotomas (visual disturbances).

When epilepsy is not associated with brain damage (injury) it is referred to Primary Epilepsy, while when it is associated with brain lesions (tumors, malformations, inflammatory events that occurred in the past, developmental anomalies, etc.) we speak of Secondary Epilepsy or Symptomatic.

Having a single seizure does not mean suffering from epilepsy (up to 10% of people worldwide are affected by at least one episode during their life) as the risk of it recurring in the absence of brain injury varies from 16% to 70% . One can speak of epilepsy if two or more unprovoked seizures occur. It is not about epilepsy, however, if there is an underlying cause, of which the seizure is only a disorder (symptom).

The critical episodes are the result of the intense and synchronized activity (discharges) of a group of neurons. In particular, the mechanisms that regulate the passage of ions (such as sodium, potassium, chlorine) through the cell membrane and regulate nerve transmission through excitatory or inhibitory connections (synapses) The “epileptic” neurons can be located in different parts of the brain and the therapies used to treat epilepsy interfere with their excitability. The epileptic seizures can vary according to the frequency (from less than one per year to several per day, every day), the clinical characteristics (partial, simple or complex seizures, generalized seizures) and their intensity and duration.

The first evidence of epilepsy has been found in documents dating back to 4000 BC (BC). The word epilepsy comes from the Greek epilambanein what does it mean be taken by surprise and represents the unpredictability of the epileptic seizure with its sudden onset. Fear, misunderstanding, discrimination and social stigma have surrounded epilepsy for centuries. This stigmatization, fruit of ignorance, continues to be present, still today, even in our country, and can have a negative impact on the quality of life of sick people and their families.

Currently, about 50 million people live with epilepsy worldwide. The prevalence (prevalence) of active epilepsy (ie the presence of permanent seizures or need for treatment) is between 4 and 10 cases per 1000 people. However, some studies in low- and middle-income countries suggest that these numbers greatly underestimate the problem, which would affect between 7 and 14 in 1000 people.

Globally, there are an estimated 2.4 million new diagnoses of epilepsy each year.In high-income countries, new cases per year are between 30 and 50 per 100,000 people. In low- and middle-income countries, this figure can be up to two times higher. This is probably due to conditions constantly present in such (endemic) areas such as, for example, malaria or neurocysticercosis (characterized by convulsions and due to a parasite), high incidence of road accidents (with head injuries), damage related to birth (neonatal distress), poor availability of medical infrastructure and accessible health care and prevention programs About 80% of people with epilepsy live in low- and middle-income countries.

Today, over 70% of primary epilepsies are treatable. For the secondary ones, it all depends on the triggering cause.

Symptoms

Seizures can affect any brain activity.

The symptoms (symptoms) caused, which may also go unnoticed, include:

  • state of temporary confusion
  • lost look to fix a point
  • prolonged contraction of muscles of the back and trunk with opisthotonus (a state of severe hyperextension and spasticity in which an individual's head, neck and spine enter a fully "hunched" or "bridged" position), contracture of the respiratory muscles, of the limbs (with flexion of the arms and extension of the legs) and of the head (with a clenched jaw that often causes tongue injuries)
  • involuntary shots (myoclonus) of the arms and legs
  • loss of consciousness
  • psychic symptoms (for example, sense of "already experienced", transient aggression)

In most cases, the person tends to have the same type of seizure with similar ailments (symptoms).

Each epileptic episode can be classified as focal or generalized.

Focal (partial) seizures

They consist of seizures that develop from the abnormal activity of a small area of ​​the brain. They are divided into two categories:

  • without loss of consciousness (simple partial seizures), can change emotions or the way things are perceived, altering smell, touch, taste or sound. This category includes involuntary jerks of arms or legs (partial motor crises) due to a epileptic focus located in the area rolandica (located around the Rolando fissure, the sulcus that divides the frontal lobe of the brain from the parietal one); spontaneous sensory disturbances (symptoms) such as, for example, tingling due to an epileptic focus localized in the primary sensory area in the opposite cerebral hemisphere; dizziness and seeing flashing lights due to an outbreak in the region calcarin (located around the calcarine fissure, a sulcus of the medial aspect of each cerebral hemisphere). It is the area of ​​the brain connected with visual function
  • focal or complex partial (secondary to an epileptic focus localized in a "brain area of Association) involving alteration or loss of consciousness. The individual may remain stationary staring into space and not be able to respond adequately to environmental stimuli (as if pulled the plug), or perform repetitive movements such as, for example, hand rubbing, compulsive chewing, involuntary swallowing, or walking around in circles. Disorders (symptoms) of focal seizures can be confused with other neurological diseases such as migraines, narcolepsy or mental disorders. Neurological examinations and extensive tests are required to distinguish epilepsy from other diseases.

Generalized epileptic seizures

These are crises that involve all areas of the brain. They are due to the firing of neurons from diencephalic structures (the brain is composed of two large areas, the diencephalon and the telencephalon) which instantly involve the cerebral cortex of both hemispheres.There are several types:

  • absence or “petty evil”, Seizures that often occur in children and cause a brief loss of consciousness (less than 30 seconds). Those affected remain staring into space or perform repetitive movements of small parts of the body such as smacking of the lips or repeated blinking of the eyelids. Such ailments can also occur dozens of times a day
  • tonic seizures, cause the muscles to stiffen. They usually affect muscles in the back, arms and legs that get stuck in unnatural positions and can cause falls
  • atonic seizures, cause a sudden and general loss of muscle tone and can cause sudden and disastrous falls
  • clonic seizuresassociated with repeated or rhythmic muscle contractions of the neck, face and arms
  • myoclonic seizuressudden, short jerks or twitches of the arms and legs
  • tonic-clonic seizures or "grand mal" seizures", In a first phase they cause loss of consciousness with a fall to the ground, emission of a scream, a phase of generalized stiffening which, progressively, turns into a series of contractions-releases (tonic-clonic convulsions) of the muscles. Then, it takes over. a phase post-criticism characterized by the slow return to the previous state of consciousness that can occur even after hours of sleep so deep as to reach the state of coma (sleep or post-critical coma). The seizure can cause loss of bladder control, drooling and / or biting of the tongue

Causes

Epilepsy has no identifiable cause in about half of the people who suffer from it. In the other half, it can be traced back to several factors:

  • genetic influence, some types of epilepsy recur with the same characteristics in different members of the same family. In these cases, there is likely to be a "genetic influence."Only a few types of epilepsy have been associated with specific genes, although it is estimated that there may be around 500 genes related to the disease. In most cases, however, genes are only part of the cause of epilepsy. Some genes can make a person more sensitive to environmental conditions which then trigger seizures.
  • trauma to the head, a trauma can cause epilepsy even after some time (months or years)
  • brain diseases, several conditions that cause brain damage such as, for example, tumors, strokes and malformations can cause epilepsy. Stroke, particularly of the haemorrhagic type, is a leading cause of epilepsy in adults over the age of 35
  • infectious diseases affecting the brain such as, for example, meningitis, AIDS and encephalitis
  • perinatal damageAt the time of and before birth, babies are susceptible to brain damage which can be caused by various factors such as an infection, nutritional deficiencies in the mother, poor oxygen supply. These types of brain damage can also cause paralysis. cerebral
  • developmental disorders such as autism and neurofibromatosis
  • metabolic disorders such as decreased amount or lack of oxygen in the tissues (hypoxia / anoxia) due to decreased heart rate (bradycardia) or cardio-circulatory arrest, prolonged decrease in the amount of glucose in the blood (hypoglycaemia), increased amount of ammonia in the blood (hyperammonaemia) , electrolyte disturbances
  • hyperthermia, high fever increases the excitability of neurons and can, therefore, trigger or favor the onset of seizures. The so-called convulsions feverish they affect up to 10% of children under 6 years old and, in the absence of abnormalities in the electrical activity of the brain detected by electroencephalography (EEG), and neurological alterations and neuro-images, they disappear spontaneously with growth and they do not need any preventive antiepileptic treatment

Some factors can increase the risk of epilepsy:

  • age, the onset of epilepsy is more common during early childhood and after 60 years but it can occur at any age. Obviously, some age groups are more linked to specific agents that could cause it: for example, in neonatal-infantile age metabolic disorders and suffering during childbirth could play a role; in adolescence-early youth, traumas due to road accidents or substances of abuse could intervene; in adulthood-old age, brain tumors and strokes could be contributing factors
  • family history, having family members already sick with epilepsy (family history) carries an increased risk of being affected
  • serious damage (injuries) cerebral post-traumatic, head damage is responsible for some cases of epilepsy. You can reduce the risk of this happening by wearing a seat belt while riding and helmet while cycling, skiing, motorcycle or engaging in other activities with a high risk of head injury
  • stroke and other vascular diseases, stroke causes brain damage that can trigger epilepsy. To reduce the risk of developing diseases that may favor it, you can limit alcohol intake, avoid smoking, follow a healthy diet
  • dementia, may increase the risk of epilepsy in the elderly
  • brain infections such as, for example, meningitis and, above all, encephalitis
  • neurostimulating effects of alcohol and substances of abuse (such as cocaine, heroin, amphetamines) both for excess consumption and for sudden cessation of use in people who have developed a physical dependence (alcoholics, drug addicts)
  • flashing light, driving along an avenue lined with rows of trees on a sunny day; in the nightclub due to strobe lights; in front of the television or a video game with very vivid images in rapid succession

Diagnosis

The starting point for ascertaining (diagnosing) epilepsy will be a careful examination of the disorders (symptoms), the collection of the history relating to the state of health of the affected person, the story of what happened in the moments immediately preceding the onset of the crisis. , during its development and at its end. From this point of view, it is of fundamental importance to acquire the testimonies of relatives, friends or those present who have witnessed the episode.

Subsequently, several tests may be required, in addition to the neurological examination, to ascertain (diagnose) epilepsy and determine the cause of the seizures:

  • blood analysis, are used to check for infections, metabolic disorders, toxicological problems (from alcohol or substances of abuse), genetic disorders or other conditions that may be associated with the development of seizures. Blood tests are also essential to check over time (monitor) the effects of the treatment (therapy) and exclude any complications related to it
  • electroencephalogram (EEG), represents the main instrumental test for ascertaining (diagnosing) epilepsy. The examination consists of placing electrodes on the scalp to record the electrical activity of the brain.Identifying a crisis directly in the course of this examination is not common; however, epilepsy sufferers often have specific brain wave abnormalities even in times when seizures are not present. During this exam, the person undergoing it may be asked to do something that could trigger seizures such as, for example, breathe quickly or stare at flashing light sources. In particular cases, the electroencephalography (EEG) exam can be continued for 24 hours (this exam is specifically called dynamic EEG Holter); in other cases, it may be necessary to record for prolonged times, through a camera (video EEG), of the EEG and of the person to examine it both when awake and while sleeping, in order to correlate the times and methods of a possible crisis with the recorded brain waves
  • computed axial tomography (CT) and magnetic resonance imaging (MRI), CT uses X-rays and takes little time, while MRI uses magnetic fields and takes longer to run but offers more detailed images. Both tests can detect brain lesions or abnormalities that can cause seizures. Functional magnetic resonance imaging (MRI) measures the changes in blood flow that occur when specific parts of the brain are working. Can be used before surgery to identify areas of the brain responsible for important functions, such as speech and movement, and prevent surgeons from injuring them
  • proton emission tomography (PET) and single photon emission computed tomography (SPECT) they are specialized tests that use a small amount of radioactive material injected into a vein to view active areas of the brain and detect any abnormalities. They are used infrequently, if the magnetic resonance and the EEG have not identified any place of origin of the seizure
  • neuropsychological tests, the epileptic person is subjected to a battery of questions from experienced staff to understand if the disease is causing damage to mental and thought processing abilities (cognitive damage)

Therapy

Medical treatment (therapy) works well for most people. In other cases, alternative interventions can be used.

Pharmacological therapy

Most people affected by epilepsy benefit from anti-epileptic drugs which they will have to take daily for at least 2 years. The drugs act on the mechanisms of regulation of the excitability of neurons and synapses. In some cases, we are witnessing the complete disappearance of crises; in others, the frequency and intensity of attacks decreases. Treatment (therapy) must be managed by experienced doctors because it cannot be started or stopped without reasons.

S "starts with a single drug at a low dose and then gradually increases until good seizure control is achieved.

More than half of children with epilepsy can, as they grow up, stop taking medications and live a seizure-free life. Many adults can also stop taking drugs after two or more years without seizures (the risk of relapse is about 30%).

Anti-epileptic drugs can cause some unwanted effects (side effects): fatigue, sleepiness, dizziness, weight gain, gum enlargement (hypertrophy), hair loss, skin reactions such as allergic dermatitis, speech disturbances and disturbances of memory.

In some rarer cases, unwanted effects (side effects) can be serious: suicidal ideation and behavior, severe rash, failure of certain organs such as the liver and damage to the optic nerve. Many side effects can be reduced with regular monitoring of drug dosages and with the conduct and evaluation of blood tests.

Epilepsy and pregnancy

Over 90% of women with epilepsy have normal pregnancy, childbirth and children (read the Hoax). In a small percentage (less than 5%) fetal malformations may occur due to the action of the drug. This aspect and the risk of a crisis occurring during pregnancy, with serious repercussions on the placenta and fetus, should be monitored by the neurologist.

Surgical therapy

Surgery is useful when seizures originate in a small, well-defined area of ​​the brain that does not interfere with vital functions, such as speech, movement, sight or hearing. If seizures originate from an area of ​​the brain that controls movement , speech and other functions, the person remains awake during part of the surgery and questions are asked during the procedure to help the surgeon not damage “noble” areas (and functions) of the brain.

If the seizures originate from a part of the brain that cannot be removed, a different type of surgery is possible in which thin and limited cuts are made around the site of the epileptic neurons to isolate them from the rest of the brain and prevent the spread of discharges. to other locations.

Although many people continue to need drug therapy after surgery, the dosage or number of drugs is often reduced.

Vagus nerve stimulation

In the chest, subcutaneously, a device similar to a cardiac pacemaker is implanted that can stimulate the vagus nerve. The stimulator is connected to the vagus nerve in the neck. Although it is not clear how this process inhibits seizures, the device may reduce them by 20-40%.
Side effects from vagus nerve stimulation may occur, such as sore throat, hoarse voice, shortness of breath, or cough.

Potential future cures

  • deep brain stimulation, electrodes surgically implanted in specific parts of the brain send electrical impulses reducing seizures
  • implantable devices (pacemaker for epilepsy), tools that analyze brain activity to detect the very first signs of the crisis and modify the reactivity of the nerve cells affected by epilepsy
  • new minimally invasive surgical techniques, such as laser ablations. They could reduce seizures with less risk than traditional surgery
  • stereotaxic radiosurgery, useful for some types of epilepsy. It consists in the emission of radiation towards the specific area of ​​the brain that causes the seizure

Prevention

All living things have a so-called epileptogenic threshold, this means that in certain conditions of suffering (for example, cardiac arrest, marked hypoglycemia) the brain reacts by producing a seizure. There epileptogenic threshold individual is regulated by a genetically determined predisposition.

To reduce the risk of (new) seizures it is important to follow lifestyle rules that become imperative, for those suffering from epilepsy, in the management of the disease:

  • take medications exactly as prescribed to the doctor without introducing "do it yourself" changes
  • always agree with your doctor to switch to any herbal remedies, or non-prescription drugs
  • never stop taking your medicine without consulting your doctor
  • report undesirable effects to your doctor immediately (side effects), such as depression, suicidal thoughts or atypical changes in mood
  • tell your doctor if you suffer from migraines. You can use antiepileptic drugs that can prevent migraines and treat epilepsy at the same time
  • make sure you sleep for the required number of hours. Sleep deprivation favors relapses of epileptic seizures
  • avoid neurostimulating substances such as, for example, alcohol or drugs

At least half of all people who receive a diagnosis of epilepsy will live seizure-free after taking the first drug. Regular follow-up appointments with your doctor are essential to assess the state of the disease and verify over time (monitor) the effects of antiepileptic drugs.

A strict high-fat, low-carbohydrate diet has been able to reduce seizure frequency in some children.
In this diet, called ketogenic, the body uses fat instead of carbohydrates for energy. After a few years, some children were able to stop the ketogenic diet and remain free from seizures.

In undertaking this type of diet, it must be ensured that the child does not develop malnutrition.

Undesirable effects (side effects) of a ketogenic diet can include: dehydration, constipation, slowed growth due to nutritional deficiencies, and buildup of uric acid in the blood, which can cause kidney stones. These side effects are not common if the diet is correct and supervised by experienced doctors.

Living with

Having a crisis in certain situations can lead to dangerous consequences for oneself or others but, with simple precautions, this risk can be reduced or eliminated:

  • fallIf you fall during a crisis, bone fractures or head injuries can occur. Therefore, those work and home activities that may involve the risk of ruinous falls (for example, ladders, suspended scaffolding) should be avoided.
  • drowningCompared to the rest of the population, the likelihood of drowning while swimming or taking a bath increases 15 to 19 times if a seizure occurs.It is therefore advisable to leave the door open when bathing in the house and make sure that there is always someone who can be of help in case of need. If you want to swim in the sea or in the lake, do not do it alone.
  • automobile accidents, a crisis that causes loss of consciousness could be dangerous if you are driving a car or other means of transport. In many countries (including Italy) there are restrictions on the granting of a driving license and it is required that it can be granted after a period of crisis free time of months or years. It is, however, a good idea not to drive until there is certainty that the treatment undertaken is effective in protecting against future crises
  • drug interactions, antiepileptics can lower / increase blood concentrations of some drugs and vice versa. In this case, the effectiveness of the medicines can be increased (with the risk of greater side effects) or decreased (with loss of effectiveness) for the same dose taken. It is therefore advisable to always warn the doctor about the drugs you are taking for allow him to evaluate any unwanted interactions
  • emotional problems, epileptic people are more likely to suffer from psychological problems such as, for example, depression and anxiety. These disorders can be part of the disease or appear as undesirable effects (side effects) of drugs

Other life-threatening complications for people with epilepsy are rare and knowing them can help you deal with them in the best way:

  • status epilepticus, a condition that occurs if the seizures continue continuously for more than 20 minutes or if they take on a recurring appearance. In other words, if they end and resume after a few minutes and follow each other while the affected person does not regain full consciousness between one and the other. state of epilepticusif left untreated, they can develop permanent brain damage; the state of epilepticus it also carries a risk of death
  • sudden unexplained death in epilepsy (SUDEP), people with epilepsy run a small risk of sudden unexplained death. Although the cause is unknown, some research suggests it may occur due to concomitant heart or respiratory disease. People who have frequent tonic-clonic seizures or seizures not controlled by drugs are at a higher risk for SUDEP

Lifestyles

Understanding what epilepsy consists of can help you better control it.

Among the most important behaviors to follow:

  • take medications correctly, do not change drug dosages before talking to your doctor, and do not substitute them on your own
  • get enough sleep, lack of sleep can cause seizures. Therefore, try to get adequate rest every night
  • wear a medical bracelet, in an emergency it will help medical staff to provide help in the right way
  • exercise, to keep fit and reduce depression. Make sure you drink enough water and rest after your workout
  • make healthy lifestyle choices, limiting alcoholic beverages, drugs and quitting smoking

Uncontrolled seizures can be confusing or lead to depression. People with epilepsy can live full and active lives, but the support of close people is important to do so. It is important that friends and family are informed about epilepsy-related problems so that they can understand and deal with them.

To live peacefully you need to try to ignore people's negative reactions and try to maintain a sense of humor. It is important, if possible, to try to live independently, keep working and not constantly worry about having a crisis.If driving is not permitted, it is advisable to study the most suitable public transport options.

It is also important to choose a doctor with whom you have good communication and to identify support groups, made up of people with epilepsy, with whom to share experiences and concerns.

If the crises are so severe that you cannot work outside the home, you may want to consider working at home.

If, on the other hand, you work outside the home, it is advisable to inform colleagues of the correct way to manage a crisis in case one should occur while you are at work. For example, in the event of a seizure:

  • carefully turn the person to one side
  • put something soft under the head
  • loosen the tie
  • do not try to put your fingers, or anything else, in the mouth of the person having a seizure; no one has ever "swallowed" their tongue during an epileptic episode, it is physically impossible
  • do not try to restrain someone while they are having a seizure because it normally resolves spontaneously
  • if the person is in motion, clear the field of dangerous objectsthe
  • stay with the person affected by the crisis until medical personnel arrive
  • observe the person closely so that we can provide details on what happened
  • keep calm, the crisis will end

Bibliography

NHS. Epilepsy (English)

Mayo Clinic. Epilepsy (English)

In-depth link

Epilepsy foundation (English)

World Health Organization (WHO). Epilepsy (English)

ILAE. International League Against Epilepsy (English)

A look at epilepsy. Electrical outbursts in the brain. NIH News in Health, November 2015

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