Microcephaly in children: causes, symptoms,lifespan

Update: December 2018

So far, birth defects are rarely
effectively treat modern medicine. Because of
pathological changes occur throughout the body, and the affected
organs lose their normal structure even at the stage
education, eliminate the cause of the disease does not seem
possible. The course of these diseases is extremely unpredictable, often they
lead to lifelong disability or death. Microcephaly
is one of the most severe defects, in which it is irreversible
decreases the volume of the skull and the brain enclosed in it.

It is impossible to cure this disease, therefore the actions of doctors, in
mainly aimed at preventing the occurrence of microcephaly in
children. Fortunately, it is rarely found in Russia – not
more often than in 1 child for 1300 newborns. In order to early
detection of signs of this pathology developed effective
diagnostic methods. Наиболее известный из них – это Ultrasound, которое
must be every pregnant three times in 40
obstetric weeks (9 calendar months).

but перед инструментальным обследованием, женщина посещает
obstetrician-gynecologist, who determines her presence
adverse factors for the course of pregnancy. Define
the most common causes that can lead to
развитию microcephaly.

howие могут быть причины

Microcephaly у новорожденных может развиваться по разным
reasons, most of which can be prevented. They are separated
into two large groups. The first is directly related to the “error” in
genomes of parents. AT этом случае, микроцефалия может передаваться
inherited and will be called “primary”. ATторая группа – это
all other factors that can directly / indirectly affect
baby in utero. Disease caused by non-genetic
causes, referred to as “secondary”.

Genetic causes

Presence of repeated cases in the pedigree of one of the parents
microcephaly reliably indicates the presence of a genetic cause. it
may be an isolated form of the disease (rare syndrome
Giacomini-Oza-Beka-Penro), when a child has no other disorders in
body, with the exception of a small volume of the skull and head
the brain. how правило, встречается сложный порок, при котором
microcephaly is one of many symptoms. Most often observed
following syndromes:

The name of the syndrome Frequency of occurrence
Down 1: 900 newborns
Edwards 1: 5000 newborns
Cornelia de Lange 1: 10,000 newborns
Retta 1: 15,000 newborns

Should отметить, что после 35 лет, риск родить ребенка с одним
of these syndromes increases by 2-3 times.

In the presence of patients in the pedigree of any pathology in which
microcephaly was observed, should contact the service
genetic counseling. AT настоящее время,
The state provides this service for the population for free.
but такая медицинская помощь оказывается только в
regional / regional centers.

Infectious causes

причины микроцефалииThese factors are the most
распространенной причиной microcephaly. Should отметить, что
healthy woman who underwent adequate pregravid
preparation (before conception) has an extremely small chance
get infected. To the action of harmful microorganisms exposed
future mothers weakened by any chronic disease or
reduced immune function.

«ATирусом» микроэнцефалии можно назвать Цитомегаловирус (ЦМATИ),
which occurs in about 3% of pregnant women in Russia. it
2000-4000 thousand per year. According to статистике Росздрава, 53% из
children born to them will suffer from microcephaly.

Помимо ЦМATИ, доказана роль следующих инфекций: токсоплазмоз,
ATИЧ, Эпштейна-Барра, герпес. There are good reasons to assume
что вирус Зика также связан с возникновением микроцефалии у children.
To diagnose the presence of a virus in a woman / newborn
diseases, it is necessary to carry out PCR (to find the DNA of the virus) or
ELISA (to find antibodies to the virus). To diagnose toxoplasmosis
Enough ELISA.

Toxic substances

Alcohol, drugs and tobacco – these factors can also
провоцировать развитие microcephaly. List of these toxic
substances can be continued: evaporation of paints, fumes
chemical industry, engineering oils, etc.
ATышеперечисленные факторы оказывают неблагоприятное действие на
the organism is both male and female. but если происходит контакт
pregnant with toxins (especially early) risk
the occurrence of this disease is greatly enhanced.

Should отметить, что в этом случае микроцефалия будет
combined with other malformations (impaired vision / hearing, abnormal
the structure of body parts, the pathology of any organs), which often leads
к смерти baby

Hormonal diseases

Diseases of the mother that disrupt the exchange of any substance in
body, always negatively affect the child. They are inevitable
lead to the formation and accumulation of toxic products. Because
blood circles of the fetus and the mother inextricably are bound, all formed
toxins pass through both of these bodies.

It is proved that microcephaly of the brain is much more common
occurs in the following metabolic diseases:

  • Diabetes mellitus type II;
  • Phenylketonuria;
  • Batten’s disease (lipogranulomatosis).

If the mother suffers from one of these diseases, it is recommended before
pregnancy is examined by an endocrinologist who will help
minimize the risk of having a baby with microcephaly.

Currently, the above factors (or their combination)
are the most common causes of microcephaly. To more rare
include: radiation, systemic diseases (lupus,
amyloidosis, carcinomatosis, etc.) and the use of drugs dangerous for the fetus.
You can identify them by examining the instructions in detail – it is necessary
designated FDA status, which reflects the effect of the drug on
baby FDA – D / X are not valid for appointment.
pregnant

Medicines that cause microcephaly. Carried out
clinical studies have proven that some pharmacological
medications that a woman takes during pregnancy can
lead to gross vices. Promote formation
microcephaly in a child can the following medications: Warfarin
(prevents blood from clotting) Phenobarbital
(anticonvulsant / antiepileptic drug), phenytoin
(muscle relaxant, which is used during immersion in
surgical anesthesia).

Symptoms of microcephaly

Reducing the volume of the skull and brain, as a rule,
causes symptoms of microcephaly. Their severity
depends on the cause of the disease, the degree of nervous tissue changes and
the presence of concomitant pathologies. American scientists highlighted
four typical variations of symptoms that can be observed in
sick children:

Clinical type (option) Type-Related Symptoms Common cause of development
The first
  • Microcephaly does not progress – the size of the brain
    remain constant after birth;
  • The movements of the child are fully preserved, all vital
    normal function (breathing, cardiac activity);
  • Intellectual activity below the average person.
    IQ, as a rule, from 50 to 60 points, which corresponds to idiocy
    (mild mental retardation).
The first тип – частое последствие воздействия на мать токсических
substances (alcohol, smoking and so on)
Second
  • Brain volume is irreversibly reduced, which means
    the progression of microcephaly;
  • The main functions of the body (respiration and cardiovascular system) are preserved;
  • Spontaneous muscle cramps may occur.
    Generalized seizures are rare;
  • Immunity is significantly weakened;
  • The most frequent outcome is death to 12 years.
The development of this form often lead to hormonal diseases of the mother.
(Diabetes, phenylketonuria, etc.)
Third
  • Microcephaly progresses rapidly, leading to
    depression of consciousness (the child is constantly in a stupor);
  • Vital functions are violated; Limbs paralyzed
    fully or partially. Constantly arise generalized
    convulsions;
  • The natural outcome is death.
Viruses causing microcephaly and toxoplasmosis.
Fourth
  • The decrease in brain volume is individual (may
    to be or not to be);
  • As a rule, the most important functions of the body are preserved;
  • Paralysis and convulsions are absent / slightly expressed;
  • The forecast is relatively favorable.
Fourth вариант симптомов развивается только при наличии
genetic causes of microcephaly.

It should be noted that during examination of the fetus and even
новорожденного, нельзя предсказать какие симптомы будут у baby
The type of violations is finally determined by the 2-3rd year.

How to determine microcephaly in utero

Suspect the possibility of the development of the disease can be questioned in detail
parents about their lifestyle (especially about bad habits and
occupational hazards) and the presence in the pedigree of cases
microcephaly. However, this assumption can only be confirmed.
instrumental methods of diagnosis of the fetus.

Ultrasound

First of all it should be noted that this method is unreliable
– it determines the correct diagnosis only in 70% of cases. but
ultrasound examination is best suited for mass
surveys of women. Screening is done three times in time.
pregnancy: at 10-15 weeks, 20-25 weeks and 30-34 weeks. During
each of these surveys assesses the condition of the fetus and is done
conclusion about the welfare of pregnancy.

What is the term for determining signs of microcephaly? According to
statistics, only 10% of sick children are up to 22 weeks
беременности на Ultrasound. 90% – after the 27th week. Late detection
disease does not allow for timely action, however alternatives
no ultrasound method.

Microcephaly плода на Ultrasound проявляется следующими признаками:

  • Decrease in BDP (biparietal size) and frontal-occipital
    measurements 2-3 times;
  • Head circumference is reduced by 2-3 diameters;
  • The ratio of the circumference of the head to the girth of the stomach is less than 2.5 (this
    индекс является ориентировочным и не обозначается в Ultrasound-протоколе и
    case histories).

To increase the reliability of the results should use all
The above symptoms. При подтверждении на Ultrasound-картине
microcephaly, it is possible to use additional methods
survey.

MRI of the fetus

This procedure is expensive (at least 4000 rubles), therefore
it is not included in the standards of medical care. but картина
на МРТ позволит достоверно подтвердить наличие microcephaly. AT
in some cases, the results may be “false negative”. it
happens if the study was performed before it started
progressive reduction of the skull and brain.

Cordocentesis and amniocentesis

it инвазивные (нарушающие целостность кожи) способы, которые
allow you to determine the chromosome set of the fetus and the presence
intrauterine infection. As a rule, they are held after
Ultrasound-подтверждения микроцефалии с целью определения возможной
reasons and choice of medical tactics.

If microcephaly has not been determined in the child in utero,
she will be diagnosed shortly after birth. For this
используют непосредственный осмотр, нейросонографию (Ultrasound через
large fontanelle or directly skull), clinical and
genetic study of blood.

ATрачебная тактика

If this disease is diagnosed in utero (especially in
early terms), doctors recommend giving up the mother from carrying
fetus and abort pregnancy (abortion). Such tactic
due to the following factors:

  • There is no effective treatment for microcephaly;
  • Extremely high probability of having a child with a disability;
  • ATысокая вероятность появления осложнений во время беременности
    (eclampsia, childbirth difficulties, etc.).

It should be noted that the final decision on the fate
pregnancy can only take a mother. ATрач может только объяснить
possible consequences of the current situation.

Treatment of a child with microcephaly

Medical care, in this case, is supportive.
character Since it is impossible to eliminate the disease, doctors try
maximize life expectancy for microcephaly and
improve its quality. For this purpose, carried out:

Non-drug treatment:

  • Exercise therapy, rehabilitation programs “MOVE”, by Tardieu G. and others. it
    allows you to teach your child self-care and everything you need
    movements. Despite the fact that the above technologies
    originally used only for children with cerebral
    childhood paralysis, now the scope of their application significantly
    expand;
  • Mechanotherapy – treatment with a complex of strengthening procedures:
    massage, orthopedic exercises and gymnastics;
  • Conductive pedagogy (Pete’s system) – teaching children in
    the process of alternating pedagogical trainings (encouraging
    action) and exercise;
  • Physical therapy (galvanization, direct current, magnetic therapy and
    etc.) – the effectiveness of these techniques is negligible, but they
    help to improve the overall condition of the nervous system, due to
    improve blood circulation.

Use of pharmacological drugs:

  • Nootropics – drugs that improve blood circulation and nutrition
    brain. Necessary for the development of intellectual functions
    patients with microcephaly and slowing the progression of the disease.
    ATозможно использование Церебролизина, Пирацетама и т.д.;
  • Angioprotectors – drugs that eliminate oxygen starvation
    brain and protecting vessels from destruction. The most common:
    Pentoxifylline (Trental) and Actovegin;
  • Anticonvulsants – used when the patient has
    propensity to muscular and generalized convulsions. Can
    be prescribed only by the attending physician. The best option –
    Diazepam;
  • ATитамины группы AT (особенно AT6 и AT12), РР
    and C.

Additional therapy may be prescribed at the discretion of the attending physician.
the doctors. It may include sedatives that stimulate
breathing / heart activity, etc.

Forecast

Life expectancy with microcephaly is mainly determined by
thus the variant manifestation of symptoms (one out of four). Second и
the third are the most unfavorable if the child
There is such a clinical picture – a high probability of death in
for 10 years after birth.

In the fourth variant, the forecast is determined individually. how
As a rule, these patients live for about 30 years, but they are rarely able to
adapt in society. itт момент зависит от уровня интеллекта
and determines the future quality of life of the patient.

The first вариант клинической картины наиболее благоприятный.
Microcephaly, in this case, will not have a significant effect on
lifespan. Despite the presence of mental retardation,
a person is able to complete secondary education and work
by profession. With timely pedagogical adjustments,
intelligence level can be restored to
average.

Prevention of microcephaly

The only adequate prevention method is the right one.
pregravid preparation. This term refers to planning.
pregnancy that must begin no less than 6 months
from conception. It includes:

  • Eliminate the effects of any toxins (alcohol, tobacco and
    etc.). From both parents;
  • Treatment of all existing chronic diseases, especially –
    urogenital;
  • If there are any genetic deviations –
    Consultation in the medical genetic center with subsequent chromosomal
    diagnostics;
  • Compliance with a balanced diet (if there is such
    opportunity), which should include all the necessary nutritional
    вещества (белки, углеводы, витамины, жиры и etc.). Should
    exclude / limit cooking fried, salty, spicy
    dishes.

At the time of pregravity preparation should take care of
effective contraception. The best is the selection of hormonal
drugs at the obstetrician-gynecologist.

Microcephaly is a rare but extremely dangerous defect. He is hard
diagnosed in utero, because of what parents do not have
opportunities to terminate a pregnancy before the baby arrives or
prepare for his birth. ATылечить это состояние невозможно,
however, it is possible to prevent it. Adequate
pregravid preparation allows to prevent in 95% of cases
какие-либо болезни плода и выносить здорового baby

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