Microcephaly in children
What is Microcephaly?
Microcephaly is a disease in which there is a decrease in brain mass and, accordingly, a decrease in the size of the skull and head circumference. At the same time, the rest of the organs develop in accordance with age norms. Such changes in the state of the brain cause the development of mental deficiency and neurological abnormalities.
According to statistics, the disease occurs in 1 child out of 10,000; the relationship between the sex of the child and the occurrence of microcephaly has not been identified.
Microcephaly causes severe mental impairment. Moreover, this can be both light imbecility and deep idiocy. Modern medicine does not give comforting predictions for such children. A complete cure is impossible, the main task of doctors and parents is to restore physical activity, to teach the child basic self-care skills.
How long do children with microcephaly live?
Statistics show that the average life expectancy of a child with microcephaly is 12-15 years. In rare cases, a person lives up to 30 years.
Causes of microcephaly in children
Modern medicine distinguishes 2 types of microcephaly - primary and secondary. The mechanisms and causes of development are different depending on the type of disease. Primary, or true microcephaly, can be triggered by all sorts of pathologies in early pregnancy. Injuries sustained in the last trimester of pregnancy, birth trauma, as well as some diseases that struck a newborn in the first months of life, can cause the development of microcephaly. It is important that children with primary microcephaly have great opportunities to lead an independent life in society, in contrast to those with secondary microcephaly. The latter are usually not even able to stand and walk on their own.
The following reasons for the development of microcephaly in children are most often distinguished:
- Intoxication of the fetus with alcohol, drugs and other toxic elements. Such a negative effect is especially destructive in the early stages of pregnancy, when most of the organs and systems of the child are laid;
- Infectious diseases of the mother during the period of bearing the child (most often the cause of the child's microcephaly is rubella and toxoplasmosis, transferred by a pregnant woman);
- Endocrine disorders in a pregnant woman;
- Exposure to certain antibiotics during pregnancy
- Toxic poisoning of a pregnant woman;
- Exposure to radioactive radiation;
- Genetic abnormalities of the fetus;
- Birth trauma.
Quite often, in about 34% of cases of disease development, microcephaly is caused by chromosomal mutations. This concept denotes the process of changing or redistributing a gene set that causes abnormal development. When it comes to microcephaly, as one of the symptoms of gene mutations, it should be understood that in this case there is both primary and secondary microcephaly.
Most often, microcephaly is accompanied by such gene mutations as:
- Edwards Syndrome - Trisomy on the 18th pair of chromosomes. A fairly rare disease, which is characterized by numerous malformations, is not compatible with life. Usually a child dies in the first six months - a year of life.
Patau syndrome - Trisomy on the 13th pair of chromosomes is also a fairly rare disease. The clinical picture of the Syndrome: pronounced deafness, obvious microcephaly and mental impairment, "cleft lip" and "cleft palate". The child's ears are lower than they should be; there is an abnormal development of the eyeball. Other defects include disorders of the cardiovascular and genitourinary systems, diseases of the gastrointestinal tract are noted. The life expectancy of a child with Patau-Trisomy Syndrome, which accompanies microcephaly, on average does not exceed 1 year. The syndrome is quite well detected in the early and middle stages of pregnancy; if a gene mutation is detected, abortion is recommended for medical reasons.
- Down's Syndrome (mutation in 21 chromosomal pairs is most often noted). Children with Down Syndrome have pronounced microcephaly. They have mental retardation, tongue-tied, physical defects. The child has a sloping back of the head, a wide nose with an impressive bridge of the nose, a protruding massive lower jaw. In addition, they have defects of the kidneys, heart, and gastrointestinal tract. Down's syndrome also strikes a child's immune system, so he often suffers from infectious diseases, and he has a high risk of developing malignant tumors.
- Syndrome of the "cat scream". It is a gene mutation that causes multiple defects, including microcephaly. The child does not emit the usual cry. He lets out a scream similar to a cat's (hence the name of the disease). Such mutations are incompatible with life; the child dies in the first hours or days of life.
Symptoms of microcephaly in children
Microcephaly can be detected already after a visual examination of the child, since such an examination reveals rather pronounced symptoms of microcephaly:
- The head circumference is 2-3 times less than the norm. This feature is the most significant and reliable. While the normal is the volume of the head of a child in 35-37 cm, the volume of the head of a newborn with microcephaly is 25-27 cm, and sometimes less. At the same time, it is natural to reduce the mass of the brain - instead of 400 grams with microcephaly, it weighs about 250 grams in the early stages of development.
The size of the facial skull exceeds the size of the head. In other words, the child's face grows, while the head itself remains disproportionately small. Children with microcephaly have a high steep forehead with protruding superciliary arches, disproportionately large protruding ears. Quite often, microcephaly is accompanied by such developmental anomalies as "cleft lip" and "cleft palate", squint. With the growth of the child, the disproportionality of the facial and cerebral zones of the child more and more reveals itself.
- Early, during the first month of life, fontanelle closure; sometimes a child is born with an already closed fontanelle. In most cases, this syndrome becomes a signal of developed microcephaly. However, in some situations, a closed fontanelle may not be a symptom of microcephaly, but a factor that will further provoke its appearance. In other words, with the timely resolution of this pathology by surgery, it is possible to avoid microcephaly due to the fact that the brain is able to grow and develop normally.
- Motility disorders, child's developmental delay, speech retardation, child's inability to reproduce sounds, poor vocabulary. It is noteworthy that the child not only does not speak himself, but also quite poorly understands the speech addressed to him.
- The onset of seizures, increased muscle tone, muscular dystonia, paralysis.
Microcephaly can also be detected during a diagnostic study using special medical equipment. In this case, to the symptoms already identified as a result of external examination, the following are added:
- Underdevelopment of the cerebral hemispheres, in particular - the frontal lobes.;
- Increase or decrease in the convolutions of the brain;
- Smoothness or complete absence of convolutions;
- The development of cystic cavities in the brain tissue.
A fairly common clinical picture is the accompaniment of microcephaly with epilepsy and cerebral palsy. In this case, signs characteristic of concomitant ailments are added to the symptoms of the underlying disease.
Speaking about the symptomatology of microcephaly, it should also be noted changes in the emotional sphere of the sick child. Both lethargy and hyperactivity can be observed here. In the first case, when a sick child is lethargic, motionless, indifferent to what is happening around, it is said about his torpid type of temperament.
Hyperactive, fussy children with microcephaly disease belong to the group with an erectile type of temperament.
Diagnosis of microcephaly
Antenatal diagnostics performed with an ultrasound machine suggests the development of microcephaly in the fetus. Similar conclusions are made after comparing the data on the size of the child's head and body obtained during the ultrasound scan with the indicators of the norm. Moreover, reliable information is possible only with the most accurate determination of the timing of pregnancy. To avoid obtaining false positive or false negative data, the fetal head circumference is compared with the abdominal circumference, the overall body size. However, reliable information about the presence or absence of fetal microcephaly can be obtained no earlier than the 27th week of pregnancy.
If there is a suspicion of the development of the disease, the pregnant woman should undergo invasive prenatal diagnosis, as well as perform karyotyping of the fetus.
Invasive diagnosis is the study of mutations in chromosomes and genes. It can be possible only when the amniotic sac is punctured, since the material for analysis is amniotic fluid, epithelial particles or fetal villi in the amniotic fluid.
Prenatal screening, which is a complex of laboratory and ultrasound studies, allows you to get statistics on the probability of having a child with microcephaly. Thanks to these procedures, it is possible to identify the belonging of a pregnant woman to a risk group of women whose fetus is susceptible to the development of microcephaly.
Prenatal screening includes ultrasound and blood chemistry. In addition, the patient fills out a special form, in which, among other questions, there is a column about the timing of pregnancy. The data of the questionnaire, test results and indicators obtained during the ultrasound examination are processed using a special computer program, which provides information on the degree of risk of many fetal diseases, including microcephaly.
Diagnosis of a newborn is carried out in the first minutes of his life based on the visual parameters of the volume of the child's head. If microcephaly is confirmed, a more serious comprehensive examination is required (MRI of the brain, X-ray of the skull, neurosonography).
When a child is born with this disease, parents are advised to undergo an examination with a geneticist to identify the causes of the pathology, as well as for advice on ways to avoid gene mutations during repeated pregnancy.
The prognosis for microcephaly, unfortunately, is disappointing, since it is impossible to completely recover from this disease. The prescribed treatment has, rather, a supportive effect, trying to ensure that the affected organs function close to normal.
The prognosis also depends on the diagnosis. So, with a shallow imbecility, it is possible to educate and educate a child, the result of which will be the patient's mastering of minor speech skills; children are able to carry out simple assignments; able to independently hold a spoon; express wishes.
With oligophrenia or idiocy, patients are most often unable to move, they have no speech and no understanding of what is happening around. The form of microcephaly is also important. So, with primary microcephaly, complex treatment can be relatively effective - the child will be able to lead a simple life in society. If microcephaly is secondary, the child will probably not even be able to sit, will not learn to stand.
In addition to the inability to get rid of the disease, it should be mentioned that the child's immune system is vulnerable. The mortality rate of children from infectious diseases is high.
As a rule, children are placed in special institutions for mentally retarded children, where they are trying to teach them the necessary self-care skills, or they are at home.
Microcephaly is an incurable disease. Therapeutic measures only help to reduce the rate of development of defects, and also help to adapt the patient to life. At the same time, it is important that the treatment takes place in a complex and includes drug therapy, therapy through physiotherapy procedures, as well as psycho-social rehabilitation.
Each of these procedures allows you to solve the particular manifestations of the disease. taking medications allows you to activate metabolic processes in the brain. In addition, their action is aimed at relieving muscle tension, spasm and cramps, which are usually frequent companions of microcephaly. Also, in the presence of increased intracranial pressure, drugs are prescribed to help normalize it. Finally, most medicines have a calming effect on the child.
The therapeutic effect can be divided into symptomatic (that is, slowing down the processes that are symptoms of the disease) and specific (the goal of such treatment is to influence the cause of the development of microcephaly). With symptomatic effects, drugs are used that stimulate metabolism and biogenic stimulants, as well as vitamin B. Specific treatment is impossible without the use of antibiotics and hormonal drugs.
Physiotherapy sessions, which include physiotherapy exercises, massage, electrical procedures, as well as therapeutic exercises in water, allow you to relieve muscle tension in microcephaly, help to activate the motor functions of organs.
As for the psychological and social adaptation of children, the main role is assigned to parents. It is they who must fight for the child's life, control the receipt of funds, attend all medical procedures prescribed by the doctor. In addition, parents should talk with the child as much as possible, explain the usual actions over and over again.
Of course, this behavior of parents is hard work, for which you need to be prepared, first of all, psychologically. For them, psychological assistance should also be organized, which contributes to the preparation and training of parents in the norms of behavior in the upbringing of children with microcephaly.
Complex treatment should be started as early as possible, only in this case one can hope for positive dynamics.
Author of the article: Sokov Andrey Vladimirovich | Neurologist
Education: In 2005 completed an internship at the IM Sechenov First Moscow State Medical University and received a diploma in Neurology. In 2009, completed postgraduate studies in the specialty "Nervous diseases".