Microcephaly in children : causes, symptoms, life expectancy

Contents:

  • What could be the reason
  • Symptoms of microcephaly
  • How to microcephaly utero
    • US
    • MRI fetus
    • cordocentesis and amniocentesis
  • Medical tactics
  • Treatmenta child with microcephaly
  • forecast
  • Prevention microcephaly

to date, birth defects rarely effectively treated by modern medicine.Due to the fact that the pathological changes occur throughout the body, and damaged organs lose their normal structure of a further stage of education, to eliminate the cause of the disease is not possible.The course of these diseases are extremely unpredictable, they often lead to lifelong disability or death.Microcephaly is one of the most severe defects, in which the volume of the skull and concluded in his brain irreversibly reduced.

treat this disease is impossible, so the actions of doctors, mainly aimed at preventing the emergence of microcephaly children.Fortunately, it found in Russia it is quite rare - no more than 1 second child for 1300 newborns.With a view to the early detec

tion of signs of this pathology has developed effective diagnostic methods.The most famous of them - is ultrasound, which must necessarily take place every pregnant three times in 40 obstetric weeks (9 calendar months).

However, before instrumental examination, the woman visits the obstetrician-gynecologist, which she defines the presence of adverse factors for pregnancy.Identify the most common causes that may lead to the development of microcephaly.

What could be the causes of microcephaly

in newborns can develop for different reasons, most of which are preventable.They are divided into two large groups.The first is directly related to a "mistake" in the genomes of parents.In this case, microcephaly can be inherited and will be called "primary."The second group - all other factors that may directly / indirectly affect the child in utero.The disease, which arose due to non-genetic reasons, referred to as "secondary".

Genetic causes

presence in the pedigree of one of the parents of repeated cases of microcephaly reliably indicates the presence of a genetic cause.This may be an isolated form of the disease (a rare syndrome Giacomini-Ouse-Beck-Penrith), when the child has no other violations in the body, except for a small volume of the skull and brain.As a rule, it found a complex defect in which microcephaly - one of many symptoms.Most often, these syndromes are observed:

syndrome name Incidence
Down 1: 900 newborns
Edwards 1: 5000 newborns
Cornelia de Lange 1: 10,000 newborns
Rhett 1: 15,000 newborns

should be noted that after 35 years, the risk of having a baby with one of these syndromes increases 2-3 times.

If you have a pedigree of patients with any pathology in which there was microcephaly, you should contact medical genetic counseling.Currently, the state provides to the public this service for free.However, such care is provided only in provincial / regional centers.

Infectious causes

These factors are the most common cause of microcephaly.It should be noted that a healthy woman who is past pregravid adequate preparation (before conception) has very little chance of becoming infected.By the action of harmful micro-organisms susceptible to future mothers weakened by a chronic disease or with reduced immune function.

«Virus» mikroentsefalii be called Cytomegalovirus (CMV), which occurs in about 3% of pregnant women in Russia.This 2000-4000 thousand a year.According to statistics of Russian Ministry of Health, 53% of children born to them will suffer microcephaly.

addition to CMV infection, demonstrated the role of the following infections: toxoplasmosis, HIV, Epstein-Barr virus, herpes.There are serious reasons to believe that Zika virus is also associated with the emergence of microcephaly children.To diagnose a woman / newborn presence of viral diseases, it is necessary to conduct PCR (to find a DNA virus) or ELISA (to find antibodies to the virus).For the diagnosis of toxoplasmosis conducting ELISA enough.

Toxic substances

Alcohol, Drugs and Tobacco - these factors can provoke the development of microcephaly.A list of these toxic substances can be extended: the evaporation of paints, vapors of the chemical industry, machine oil, etc.These factors have an adverse effect on the body, both men and women.However, if a pregnant woman comes into contact with toxins (especially in the early stages) the risk of the disease is enhanced significantly.

should be noted that in this case, microcephaly will be combined with other malformations (impaired vision / hearing, abnormal structure of the parts of the body, any organ pathology), which often leads to death of the child.

Hormonal diseases

mother's illness that violate the exchange of a substance in the body, always have a negative impact on the child.They will inevitably lead to the formation and accumulation of toxic products.As the blood of the fetus and the mother community are inextricably linked, all the toxins pass through both the body.

proved that brain microcephaly significantly more common in the following metabolic diseases:

  • diabetes (diabetes mellitus) II type;
  • Phenylketonuria;
  • Batten Disease (lipogranulematoz).

If the mother suffers from one of these diseases, it is recommended before pregnancy surveyed at the endocrinologist, who will help to minimize the risk of having a child with microcephaly.

Currently, these factors (or a combination) are the most frequent causes of microcephaly.For more rare include radiation emission, systemic diseases (lupus, amyloidosis, carcinomatosis, etc.) and the reception of dangerous drugs for the fetus.Identify them as possible to study in detail the instructions - it certainly marked FDA status, which reflects the effect of the drug on the child.FDA - D / X are not valid for the purpose pregnant.

Medications that cause microcephaly. The clinical studies have proven that some pharmacological drugs that a woman takes during pregnancy can lead to serious defects.Foster microcephaly child may following medications: Warfarin (prevents blood clotting), Phenobarbital (anticonvulsant / antiepileptic drug), phenytoin (a muscle relaxant that is used during a dive in the operating anesthesia).

Symptoms of microcephaly

Reducing the volume of the skull and the brain, as a rule, leads to symptoms of microcephaly.Their severity depends on the cause of the disease, the degree of changes in the nervous tissue and the presence of comorbidities.American scientists isolated four typical variant of symptoms that can be observed in the sick children:

clinical type (option) symptoms peculiar type common cause of
first
  • microcephaly is not progressing- brain sizes remain constant after birth;
  • Movement child is fully maintained, all life-saving function is normal (breathing, heart activity);
  • Intellectual activity below the level of the average person.IQ, usually from 50 to 60 points, which corresponds debilizm (mild mental retardation).
The first type - a frequent consequence of exposure to the mother of toxic substances (alcohol, smoking, and so on)
second
  • irreversible brain volume decreases, which indicates the progression of microcephaly;
  • basic body functions (breathing and CAS) are stored;
  • possible occurrence of spontaneous muscle cramps.Generalized seizures are rare;
  • considerably weakened immunity;
  • most common outcome - the death of up to 12 years.
To the development of this form of the disease often result in hormonal mother (diabetes, phenylketonuria, etc.)
third
  • microcephaly progresses rapidly, which leads to the oppression of consciousness (the child is always in a stupor);
  • violated vitally necessary functions;
    limbs paralyzed fully or partially.Constantly having generalized seizures;
  • logical outcome - death.
viruses that cause microcephaly and toxoplasmosis.
fourth
  • The decrease in brain volume is an individual character (may or may not be);
  • As a rule, the most important functions of the organism are stored;
  • Paralysis and seizures are absent / expressed slightly;
  • relatively favorable prognosis.
fourth option symptoms only develop in the presence of the genetic causes of microcephaly.

should be noted that during the examination of the fetus and newborn, even, it is impossible to predict which symptoms are a child.Finally determined by the type of violations to the 2-3 th year.

How to microcephaly utero

to suspect the possibility of developing the disease can be, interviewing parents details about their lifestyle (especially about bad habits and occupational exposures), and the presence in the pedigree of cases of microcephaly.However, to confirm this assumption can only be instrumental fetal diagnostic methods.

US

First of all it should be noted that this method is unreliable - it determines the correct diagnosis only in 70% of cases .However, ultrasound is best suited for mass screening of women.Screening is carried out three times during pregnancy: 10-15 weeks, 20-25 weeks and 30-34 weeks.During each of these surveys is estimated fetal state and concludes the welfare of pregnancy.

On what term signs of microcephaly determined?According to statistics, only 10% of the patients are children up to 22 weeks of pregnancy by ultrasound.90% - after the 27th week.Late detection of the disease does not allow to take timely measures, but there is no alternative method of ultrasound.

fetal microcephaly seen on ultrasound by the following features:

  • Decrease BDP (biparietal diameter) and fronto-occipital measurements in 2-3 times;
  • circumference of the head is reduced to the diameter of 2-3;
  • ratio of head circumference to the circumference of the abdomen less than 2.5 (the index is indicative and is not indicated in the ultrasound protocol and history of the disease).

all of these signs should be used to improve the reliability of the results.If confirmed by ultrasound-picture microcephaly may use additional methods of examination.

fetal MRI

This procedure is expensive (not less than 4000 thousand. Rub.), So it is not included in the standards of medical care.However, the picture on the MRI will allow reliably confirm the presence of microcephaly.In some cases, the results may be a "false negative."This happens when the study was performed earlier than the beginning of a progressive reduction of the skull and brain.

cordocentesis and amniocentesis

This invasive (violating the integrity of the skin) methods that allow you to determine the chromosome set of the fetus and the presence of intrauterine infection.They usually take place after the ultrasound confirmation of microcephaly in order to determine the possible cause and the choice of medical tactics.

If microcephaly has not been determined in a child in utero, it is diagnosed shortly after birth.For this purpose, the direct examination, cranial ultrasonography (ultrasound through the large fontanelle or directly skull), a clinical and genetic study of blood.

Medical tactics

If the disease is diagnosed in utero (especially in the early stages), doctors recommend to give the mother of gestation and to terminate the pregnancy (abortion).This tactic is due to the following factors:

  • no effective treatment microcephaly;
  • extremely high probability of the birth of a disabled child;
  • high probability of complications during pregnancy (eclampsia, difficulties with childbirth, etc.).

It should be noted that the final decision on the fate of pregnancy can take only a mother.The doctor can only be explained by the possible consequences of this situation.

child with microcephaly treatment

Medical care, in this case, has a supporting character.Since it is impossible to eliminate the disease, doctors are trying to maximize the life expectancy at microcephaly and improve its quality.This shall be:


Drug-Free Treatment:

  • physical therapy, rehabilitation programs «MOVE», by Tardieu G. and others.This allows you to train the child's self-service and all the necessary movements.Despite the fact that the above technology initially used only for children with cerebral palsy children, today the scope of their application is greatly enhanced;
  • Physiotherapy - treatment of complex restorative treatments: massage, orthopedic exercises and gymnastics;
  • Conductive Pedagogy (Pete system) - educating children in the process of alternation of pedagogical training (actionable) and exercise;
  • Physiotherapy (galvanization, constant current, magnetic, etc.), - the effectiveness of these techniques is negligible, but they help to improve the overall condition of the nervous system by improving circulation.

use of pharmacological agents:

  • Nootropy - drugs that improve blood circulation and brain power.Needed for the development of intellectual function of patients with microcephaly and slow the progression of the disease.Perhaps the use of Cerebrolysin, piracetam, etc .;
  • Angioprotectors - drugs that remove oxygen starvation of the brain and protect blood vessels from damage.The most common: Pentoxifylline (Trental) and Aktovegin;
  • Anticonvulsant - used if the patient tendency to muscle and generalized seizures.Can be appointed only by the attending physician.The best option - Diazepam;
  • B vitamins (especially B6 and B12), PP and C.

Additional therapy may be administered at the discretion of the attending physician.It may include anti-anxiety drugs that stimulate breathing / cardiac activity, etc.

forecast

Lifespan with microcephaly is mainly determined option symptoms (one in four).The second and third are the most unfavorable, if your child has such a clinical picture - a high probability of death within 10 years after the birth.

In a fourth embodiment, the forecast is determined individually.As a rule, these patients live for about 30 years, but are rarely able to adapt to society.This time depends on the level of intelligence and further defines the quality of life of the patient.

first option is the most favorable clinical picture.Microcephaly, in this case, will not have a significant impact on life expectancy.Despite the presence of mental retardation, a person is able to complete vocational education and profession.With timely adjustment of teaching, level of intelligence may be reduced to the average.

Prevention microcephaly

only adequate method of prevention - correct pregravid training.This term denotes pregnancy planning, which should begin no later than 6 months from conception.