Causes of Down syndrome in children. Down syndrome: why it occurs and how to avoid it? Explain genetics

From a medical point of view, Down syndrome during pregnancy is the presence of one extra chromosome in the fetus. And from the point of view of life, this is a serious burden and responsibility that falls on the shoulders of parents, since the care and upbringing of a special child requires considerable moral and material strength.

All children suffering from Down syndrome differ from healthy people in the intellectual and physical sense, it is extremely difficult for them to adapt to an independent life in society.

Therefore, raising such a child is difficult in all respects. To avoid this, experts suggest that all women undergo screening diagnostics aimed at identifying existing pathologies in the fetus, including signs of Down syndrome during pregnancy.

Down syndrome is a pathology that occurs against the background of a violation of the set of chromosomes that the unborn child receives from both parents. Children with this diagnosis are born into the world not with 46, but with 47 chromosomes.

Down syndrome, from the point of view of geneticists, cannot be called a disease, since a person born with this pathology has a certain set of signs and traits characteristic of such people.

Deflection features:

• Down's syndrome cannot be called a rare phenomenon, since there is 1 case of the birth of a child with this pathology for 700 births. By the way, today this statistic has changed significantly, the ratio has become 1100: 1, as the number of induced abortions and childbirth has increased among women who learned about the rejection of their child through the analysis of Down's syndrome during pregnancy.
• The percentage of female and male infants with a similar chromosomal disorder is the same.
• Pathology does not depend on ethnicity and nationality, as well as on the standard of living of parents.

In women under 24, the probability of having a child with Down syndrome is 562: 1. From 25 to 30 years - 1000: 1, from 30 to 39 - 214: 1. Expectant mothers whose age has exceeded 45 years are at maximum risk, statistics in this case relentless - 19: 1. If the father of the child is over 42 years old, the probability of having a child with Down syndrome is several times higher.

80% of children with this deviation are born to women under 35, which is explained by the high birth rate in this age group.

Children born with this pathology are usually called "sunny" children, as they are distinguished by excessive warmth and kindness, a constant happy smile on their faces. Such children do not know how to be angry and envious, but it is difficult for them to adapt to life due to physical and mental disabilities. Why are such children born?

Causes

Experts still cannot give an exact list of the reasons resulting from the birth of a child with Down syndrome. To date, very few factors have been identified in this problem.

Let's list them:

• mother's age over 35;
• father's age over 42;
• an accidental unfavorable combination of circumstances that arose at the time of fertilization and division of the first cells;
• deficiency in the body of the expectant mother (an assumption not confirmed by science).

At the same time, geneticists are confident that the appearance of chromosomal abnormalities is not influenced by negative environmental factors and the lifestyle of both parents. For this reason, spouses should not blame themselves for the fact that a pathology has been diagnosed in a fetus or newborn.

Diagnostics

In the first trimester, the definition of Down syndrome during pregnancy is carried out with the help of. But the probability of error will be increased compared to laboratory tests that are carried out in the second trimester.

If the ultrasound results obtained are positive, for example, the fetus has gross developmental pathologies similar to signs of a chromosomal disorder, the woman is invited to undergo additional, more accurate research methods.

Additional studies are carried out if the analysis for Downism during pregnancy showed a doubtful or positive result.

These include:

• amniocentesis - amniotic fluid is taken for research, with the help of which it is possible to determine the chromosome set of the unborn child in a laboratory;
• chorion test - a piece of tissue is taken for diagnosis;
• cordocentesis - cord blood is taken through the skin barrier.

It is worth noting that not all women agree to tests for Down syndrome during pregnancy, worrying about the possibility of spontaneous miscarriage during manipulation. It turns out that they are ready to become the mother of an unhealthy child rather than be left without him.

How long does a screening test take?

To determine the signs of Down syndrome during pregnancy, screening diagnostics is carried out at the following times:

• Chorionic biopsy - 10-12 weeks. The result will be obtained in a few days, the procedure is dangerous with the risk of spontaneous abortion - in 3% of cases.
• Placentocentosis - 13-18 weeks. The result in a few days, the risk of miscarriage is the same.
• Amniocentesis - 17-22 weeks. The risk of miscarriage is 0.5%.
• Cordocentesis - 21-23 weeks. The risk of miscarriage is 2%.

With a high degree of probability, it is possible to judge the presence of this pathology in an unborn child based on the results of an ultrasound scan, if gross anatomical disorders are detected.

These include the following signs of Down syndrome during pregnancy:

1. Enlarged nuchal space, which may occur due to a thick neck fold or accumulation of fluid on the back of the fetal neck. Normally, this figure should not be more than 2.5 mm with transvaginal ultrasound and 3 mm when performing a procedure through the abdominal wall. Ultrasound during pregnancy for Down syndrome is not carried out specifically, since during the manipulation the general condition of the fetus is assessed, other anomalies of its development are diagnosed, therefore, all women undergo it routinely from 10 to 13 weeks without fail.
2. The length of the bones of the nose of the unborn child is estimated in the second trimester. Every second child with Down syndrome is characterized by hypoplasia of the nasal ossicles. Also, during ultrasound, an increase in the bladder, a decrease in the maxillary bone, tachycardia of more than 170 beats per minute, changes in blood flow in the venous duct can be detected.

If an ultrasound on Down during pregnancy detects one or more signs of deviation, this does not mean that the result is 100% reliable. In this case, the woman will be sent to the tests listed above, the results of which will be as accurate as possible. Ultrasound at the end of the first trimester most accurately determines the risk of pathology and helps to take appropriate measures.

The percentage of probability of detecting the described pathology according to the results of all the above tests in the first trimester of pregnancy is about 91%. The final diagnosis is carried out at the 20th week of pregnancy.

At this time, during the ultrasound, the following signs become noticeable:

• round head shape with a sloping forehead and a flat face;
• chest deformity, in which it takes a keeled or funnel-shaped shape;
• small upper jaw;
• limb growth retardation;
• curved short little fingers.

The most complete picture can be seen using the 3D ultrasound method, in which a three-dimensional image of the fetus is displayed on the screen.

This method significantly increases the percentage of detection of signs of Down syndrome, starting from 14 weeks of pregnancy. But, unfortunately, it has not yet become widespread due to the high cost of equipment that not every clinic can afford.

Biochemical screening

Since an accurate diagnosis cannot be made only on the basis of ultrasound results, additional blood tests are prescribed.

They include:

• determination of hCG indicators;
• detection of free estriol;
• a study on alpha-fetoprotein, an increased concentration of which is one of the symptoms of Down's syndrome;
• determination of the content of plasma protein A.

These methods consist in taking blood from a woman's vein during pregnancy and do not pose a danger to the life of the unborn child. However, like ultrasound, they do not give a 100% guarantee of the presence of pathology. Therefore, for the final confirmation of the diagnosis, invasive methods are carried out.

Invasive techniques

Such studies involve taking the blood or skin of the fetus for genetic testing. They carry a certain risk to the health of the fetus, so not all women decide to have them.

The following invasive procedures are distinguished:

The combination of ultrasound methods, invasive and non-invasive studies, as well as the study of the anamnestic data of parents (age, predisposition to genetic abnormalities in the family) makes it possible to make an accurate diagnosis of the presence or absence of Down syndrome in the fetus.

Children with the described pathology at birth have the following symptoms:

• flattened shape of the face and neck;
• open small mouth;
• big tongue;
• saddle shape of the nose;
• there is a thickened skin fold on the neck;
• strabismus;
• underdevelopment of the middle phalanges of the fingers;
• wide palms with a single transverse fold.

Anomalies such as fusion of the anus, duodenal stenosis, and heart defects are also possible. There is a high risk of developing leukemia.

Possible actions after diagnosis

The law allows termination of pregnancy due to the detection of signs of Down syndrome in the fetus. This manipulation can be carried out up to 22 weeks without endangering the life of the mother. However, not all parents decide to take this step. This may be due to religious or moral principles, the hope that doctors may make a mistake when making a diagnosis, accepting the child as he is given by nature, and other factors.

Any choice is worthy of respect, and the decision to have an abortion should not be viewed as a manifestation of selfishness or cowardice. After all, caring for a Sunny child requires enormous moral, physical and material costs. In addition, a society that, on the one hand, condemns abortions and demands their prohibition, on the other hand, is not able to adequately perceive and support special people.

A positive factor is that doctors have developed physiotherapy techniques that allow a child with this pathology to develop all the skills that a person needs to take care of himself. Subsequently, such a child will be able to get an education and even master a profession.

The news of the desired pregnancy is a real holiday. At first, having seen two long-awaited strips on the test, future mothers literally "fly" on the wings of happiness. However, over time, fears begin to appear. And the main one is worries about whether the baby is healthy.

So, future parents are often concerned about the question of why children are born with Down syndrome? Is it possible to prevent the development of this pathology?

What is a congenital syndrome?

First of all, it is worthwhile to understand that any congenital syndrome, including Down syndrome, is not a disease, therefore it is impossible to cure it. A syndrome is a collection of certain symptoms caused by pathologies in the development of an organism. Many congenital syndromes are hereditary, but Down syndrome is an exception.

This syndrome is caused by the tripling of chromosome 21. Normally, a person has 23 pairs of chromosomes, but sometimes a failure occurs, and in place of 21 pairs there are three chromosomes. This extra chromosome 47 causes this pathology.

The syndrome got its name in honor of the person who first gave pathology. The name of this scientist was John Down, which is why the syndrome was named after the researcher.

Why does pathology develop?

Of course, parents are interested in why a child with Down syndrome can be born? Unfortunately, this pathology is just an accident, from which no family in the world is immune.

An extra chromosome in a pair may appear due to:

• non-disjunction of the paired chromosome during cell division of the spermatozoon and egg;

• violations of cell division after fertilization;

• transmission of a mutation from one of the parents.

In 94% of cases, the pathology is due to simple trisomy, when copies of the triple chromosome 21 are present in every cell.

Risk factors

Scientists still cannot find the reasons that provoke a genetic failure and lead to the development of this syndrome, it is believed that this is an absolute accident.

The probability of having a child with such a syndrome does not depend on the lifestyle of the parents, although the inhabitants are often sure that the mother’s improper behavior during pregnancy leads to this pathology.

Actually it is not. In a family in which they lead an exceptionally healthy lifestyle, the probability of having a child with this pathology does not decrease.

Therefore, the question of why healthy parents give birth to children with Down syndrome has only one answer: there was an accident, a genetic failure. There is no "guilt" of the mother or father in the child's illness.

The only pattern that scientists have been able to identify is the relationship between the age of the parents and the increased risk of having a sick child. Women who decide to become mothers after the age of 45 are especially at risk. Affects the probability of having a sick child and the age of the father, although to a lesser extent.

It must be said that the risk of having an unhealthy child is high not only among older mothers, but also among women who are too young, under 16 years of age. The risk also increases if blood relatives marry.

It should be noted that children with Down syndrome are often born, according to statistics, one baby out of every seven hundred born is sick. The gender of the child does not affect the development of the pathology, with the same probability both a boy and a girl can be born with the syndrome.

How to determine the probability of having a child with a pathology?

Today, there are diagnostic methods that allow you to diagnose the presence of pathology in the early stages of pregnancy.

With a certain degree of probability, a preliminary diagnosis can be made even with an ultrasound examination. But other methods are used to obtain accurate results.

The most accurate of is amniocentosis. To conduct this study, amniotic fluid is taken, the accuracy of the analysis is 99.8%. However, only women who have a very high risk of giving birth to a sick child are sent to such a study, since material sampling is a procedure that can lead to spontaneous abortion.

The majority (more than 90%) of pregnant women, having received the news that they are carrying a child with Down syndrome, decide to terminate the pregnancy. And even those women who gave birth to sick children are not always ready to take responsibility for his upbringing. Therefore, unfortunately, the percentage of refusals from such children in maternity hospitals is high.

How does the syndrome manifest itself?

According to statistics, pregnancy with a fetus with Down syndrome in about 30% of cases is completed by spontaneous miscarriage in the early stages. In other cases, children are born full-term, but their body weight is lower than that of healthy babies.

As you can see in the photo, most sick children with this syndrome have pronounced external features, so they are given a preliminary diagnosis immediately after an external examination. However, it is possible to say for sure if a child has a genetic pathology only after analyzing the karyotype.

90% of sick children have specific craniofacial changes. These are signs such as a flat face, a wide shortened neck, deformed ears, a flat nose. In newborns, a skin fold can be observed on the neck.

Eye changes are also characteristic of this syndrome, in children of all races the eyes are narrowed, the presence of a vertical skin fold at the inner corner is characteristic. Often, sick children have poor eyesight, and cataracts may develop by the age of 7-8.

In addition to external changes in children with Down syndrome, various pathologies of internal organs are often detected. Especially often the cardiovascular system suffers.

Myths about the syndrome

In society, there are a lot of different prejudices about people with Down syndrome. For example, many are sure that the birth of a sick child is a consequence of the "inferiority" of the parents. In fact, a baby with the syndrome can be born to an absolutely healthy couple, moreover, other children of the same parents are most often healthy.

Often there is an opinion that children with the syndrome are completely unteachable. Actually this is not true. Of course, there is a certain lag in physical and mental development, but the child may well learn to serve himself, read and acquire other necessary skills.

Another completely unfounded misconception is that people with Down syndrome are aggressive. Having screwed up, they are very peaceful and friendly, so they are often called "sunny people."

The birth of a child with Down syndrome is an accident, a genetic failure. The probability of developing this pathology does not depend on the lifestyle of the parents, the country of residence, the environmental situation and other external factors.

It is impossible to cure this developmental pathology. But it is in the power of parents to adapt the child to society as much as possible. Studying according to special programs, children can acquire the necessary skills and master a profession. According to the observations of doctors, children who grow up in a family in an atmosphere of love achieve greater success in mastering various skills than those kids who are brought up in boarding schools.

Despite the active development of technology and medicine, Down syndrome is today a very common diagnosis. The disease is very complex and not fully understood, as a result of which people themselves invent and create myths, sometimes contradicting each other. Often, the first questions arise in pregnant women with suspected Down syndrome, many are faced with a dilemma - to leave the child or decide on an abortion. After the birth of a baby, parents worry about how to raise a child, how to provide him with a normal life and at the same time save his own.

What is Down Syndrome

Down syndrome is a genetic anomaly characterized by the presence of an extra third chromosome 21 in a child. In total, 47 chromosomes are obtained in the set instead of the standard 46 chromosomes - this causes all the symptoms. The disease has received the postscript "syndrome", because it is characterized by a combination of symptoms, signs and characteristic manifestations. The disease is equally common in both sexes, different nationalities and ethnic groups. A high risk of having a baby with an anomaly in women giving birth after 45.

Children diagnosed with Down syndrome are popularly referred to as "sunny". This is due to the fact that children often smile, radiate warmth, tenderness and kindness. The main difficulty is that they are extremely poorly socialized and adapt to their usual life, as there is a developmental delay, difficulties in self-care and problems with speech.

There are 4 main degrees of the disease: mild, moderate, severe and deep. Children with the first degree of Down syndrome practically do not differ from ordinary children and very often adapt well in society and occupy a very prestigious place in society. Babies with a deep illness cannot lead their usual socialized lifestyle, which greatly complicates the life of parents.

Causes of Down syndrome

The question of the cause of the development of Down syndrome remains open, since it has not been possible to establish these facts with 100% accuracy. Scientists have established facts that increase the risk of developing anomalies in the karyotype of a child:

• The mother is over 40 years old and the father is 42.
• Folic acid deficiency during pregnancy.

Scientists have determined that the development of anomalies is not affected by the environment, the lifestyle of parents and other subjective or objective factors. Therefore, parents of "sunny" children should not blame themselves for the development of pathology.

Signs of Down syndrome

The symptoms of Down syndrome are easily determined immediately after the birth of the baby, since they are characteristic only for this disease and are quite pronounced. Thanks to the active development of medicine, it is possible to establish a violation of the karyotype even during the intrauterine development of the fetus. This allows parents to decide the future fate of the child, if they are ready for difficulties and love the baby no matter what - he is given life, but often women decide to have an abortion.

During pregnancy, Down's syndrome can be determined using an ultrasound examination of the fetus and a series of genetic tests (you can not rely only on the results of ultrasound). The main signs of the disease that can be detected during fetal development include:

• Absence of the nasal bone in the fetus.
• The presence of heart defects or abnormalities in its functioning.
• The small size of the frontal lobe and cerebellum is hypoplasia.
• Shortened femurs and ulnas.
• The presence of cysts on the solar plexus.
• Enlargement of the renal pelvis.
• Thickening of the collar space.

Not always all symptoms are present and not in every case it is 100% confirmation of a karyotype disorder. To obtain an accurate result, it is necessary to pass additional genetic tests and pass special tests.

After the birth of a child with Down syndrome, all the signs are obvious and clearly visible, but to confirm it is necessary to do genetic tests to rule out the possibility of developing another disease. Children often experience the following symptoms:

• Flat nape, face and bridge of the nose (due to the absence of the nasal bone).
• Short skull and fingers due to underdevelopment of the phalanges.
• Curvature of the little finger and a wide set thumb to the side.
• A wide fold of skin on a short neck.
• Muscular hypotension, excessive joint mobility.
• Short limbs, nose.
• Constantly open mouth.
• The presence of leukemia or congenital heart disease.
• A complex of mental disorders in a child.
• Chest deformity.

Not all symptoms are necessarily present in every sick child. Some may have one set of traits, others completely different. With age, the main symptoms worsen and the likelihood of developing other ailments increases: obesity, dental problems, weakened immunity, as a result of frequent colds and infectious diseases, mental retardation and speech development.

Diagnosis of the disease

A diagnosis can be made only after a thorough diagnosis, which includes a number of measures aimed at identifying DNA abnormalities. You can determine the first signs of the disease even during pregnancy, for this the following methods are used:

Down syndrome treatment

Down syndrome is an incurable diseasebecause no one can change DNA. But there are a number of methods that are aimed at improving the general condition of the patient, improving the quality of his life. Necessarily, a number of doctors take part in the treatment of a child - an oculist, a gastroenterologist, a cardiologist, a pediatrician, a neuropathologist, a speech therapist and others. Their main actions are aimed at normalizing speech, motor abilities, improving health and teaching self-care skills.

Do not avoid sunny children and drug treatment, which includes:

• Preparations for the normalization of blood circulation in the brain: Piracetam, Aminolone, Cerebrolysin.
• Vitamin complexes to improve overall health.
• Neurostimulators.

As a result of many years of studying children with Down syndrome and their development, scientists have come to the conclusion that they all develop in completely different ways. Developmental delay depends on the treatment, ongoing training with the baby and the degree of damage. With regular classes with a child, he can learn to walk, speak, write, he is able to master self-care skills. They can attend public schools, graduate from college, get married, and even procreate.

But the outcome is not always so favorable, quite often with age, children have a number of complications, as a rule, they relate to physical health. The most common ailments include diseases of the heart, digestive organs, disruption of the immune and endocrine systems. Problems with hearing, vision, sleep develop, and there are often cases of apnea. In 25% of patients, leukemia, Alzheimer's disease, obesity and epilepsy are observed.

A huge problem is that no specialist is able to program or predict how the disease will develop. It all depends on the individual characteristics, the degree of illness and activities with the baby.

Disease prevention

To date, there are no methods of prevention that would guarantee 100% protection against the development of Down syndrome in a child. General recommendations include a complete examination, including genetic, before conception; pregnancy and childbirth under 40; taking the necessary vitamin preparations during the bearing of the baby.

Syndrome (disease) Down is a chromosomal disorder that causes lifelong mental retardation and other severe health problems.

The severity of disorders in Down syndrome can be different. Down syndrome is the most common genetic cause of mental retardation in children.

Causes of Down syndrome

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair is inherited from the father, the other from the mother. Down syndrome occurs when one of three cell division abnormalities occurs, in which extra genetic material is attached to chromosome 21. It is the pathology in the 21st pair of chromosomes that determines the child's features characteristic of this syndrome.

Three genetic variations of Down syndrome:

1. Trisomy 21.

More than 90% of cases of Down syndrome are caused by trisomy 21. Children with trisomy 21 have three chromosomes in the 21st pair instead of the normal two. In this case, all the cells of the child have such a defect. This disorder is caused by an abnormality in cell division during the development of an egg or sperm. In most cases, it is associated with non-disjunction of chromosomes during the maturation of the egg (about 2/3 of cases).

2. Mosaicism.

In this rare form (about 2-3% of cases) of Down syndrome, only some cells have an extra chromosome in the 21st pair. This mosaic of normal and abnormal cells is caused by a defect in cell division after fertilization.

3. Translocation.

Down syndrome can also occur if part of chromosome 21 shifts towards the other chromosome (translocation), which occurs before or during conception. Children with this condition have two chromosomes in pair 21, but they have extra material from chromosome 21 attached to the other chromosome. This form of Down syndrome is rare (about 4% of cases).

Is Down syndrome inherited?

The vast majority of cases of Down syndrome are not inherited. These cases are caused by a random error in the division of cells during the developmental stage, sperm, egg or embryo.

Only one rare variant of Down syndrome associated with a chromosome translocation can be inherited. But only 4% of Down syndrome patients have a translocation. And about half of these patients inherited a genetic defect from one of their parents.

When a translocation is inherited, it means that the mother or father is a balanced carrier of the genetic mutation. A balanced carrier has no signs of Down's syndrome, but can pass on the gene translocation to their children. The chance of inheriting a translocation depends on the gender of the carrier. If the father is the carrier, then the risk of transmission of the disease is about 3%. If the mother is the carrier, then the risk of transmission is 10 to 15%.

Down syndrome risk factors

It is now known that some parents are more likely to have children with Down syndrome.

Risk factors include:

1. Age of the mother.

A woman over the age of 35 is more likely to have a child with Down syndrome. This is due to the decrease in the "quality" of the egg, which occurs with age.

By the age of 35, the risk of having a sick child is 1:400, and by the age of 45 it is already 1:35 (almost 3%). But according to statistics, most children with Down syndrome are born to women younger than 35 years old, which is explained only by a large number of births among young women.

2. Having a child with Down syndrome.

Every woman who already has a child with Down syndrome has an average 1% risk of having a second child with the same pathology. In spouses, one of whom is a carrier of the translocation, this risk is much higher. Such women are recommended to undergo genetic screening in subsequent pregnancies.

Signs of Down syndrome

Children with Down syndrome have distinctive facial features.

Not all patients have the same appearance, but the most common are:

Short neck.
. Small head.
. Protruding tongue.
. Flattened face.
. Mongoloid section of the eyes.
. Ears of an unusual shape.

Patients with Down syndrome have other signs:

Poor muscle tone.
. Wide, short brushes.
. Relatively short fingers.
. Tendency to obesity.
. Dry skin.

Many patients have malformations of the heart and gastrointestinal tract. Children with Down syndrome may be of average height, but they usually do not grow well and remain shorter than other children of their age. In general, all important stages in their development (sitting, walking) patients with Down syndrome reach twice as slowly as healthy children. Children with Down syndrome have some degree of mental retardation, usually mild or moderate.

Diagnosis of Down syndrome

Genetic screening for Down syndrome can be done at the stage of prenatal development of a child. Maternal age has traditionally been considered an indication for such screening. If a child is diagnosed with a pathology before birth, then the mother will have more time to think and prepare for caring for a child with special needs. The doctor will talk in detail about the pros and cons of such screening.

Today, the American Congress of Obstetricians and Gynecologists recommends a large set of tests that can be used to detect Down syndrome. If the first tests (ultrasound and blood tests) showed a possible problem, then more accurate but invasive tests (amniocentesis) can be performed on this basis.

In the past decades, mothers in the US have been asked to have a blood test at about 16 weeks' gestation to check for Down's disease and other chromosomal abnormalities. Today, a more effective combined test is recommended, which is carried out in two stages between the 11th and 13th weeks of pregnancy.

The first trimester test includes:

1. Ultrasound.

Using conventional ultrasound, an experienced doctor can examine and measure specific areas of the fetus. This helps to identify gross malformations.

2. Blood test.

Ultrasound results are evaluated along with blood test results. These tests measure levels of hCG (human chorionic gonadotropin) and pregnancy-associated plasma protein PAPP-A. The results make it possible to judge whether there are serious deviations in the development of the fetus.

Comprehensive test of the first and second trimester:

American experts recommend a comprehensive test, which consists of first trimester tests (as described above) and additional tests in the second trimester. This comprehensive test gives a lower percentage of false positives. That is, as a result, fewer women will mistakenly believe that their child has Down syndrome.

To do this, in the second trimester, between the 15th and 20th weeks of pregnancy, the mother's blood is analyzed for 4 indicators: alpha-fetoprotein, estriol, hCG and inhibin A. The results of this analysis are compared with the results of tests obtained at the beginning of pregnancy.

Of all women who are screened, about 5% are identified as at risk. But in fact, the frequency of children being born with Down syndrome is much lower than 5%, so a positive test still does not mean that a child will necessarily be born with this disease.

If screening has shown a high risk of Down syndrome, then a more invasive but accurate test is recommended.

Such analyzes include:

1. Amniocentesis.

During the procedure, a special needle is inserted into the uterus, with which a sample of the amniotic fluid surrounding the fetus is taken. This sample is then used for chromosomal analysis of the fetus. Amniocentesis is usually performed after the 15th week of pregnancy. According to American statistics, in 1 case out of 200 procedures (0.5%) a miscarriage is possible.

2. Analysis of chorionic villi.

Cells taken from the mother's placenta can be used for chromosomal testing for Down's disease and other chromosomal disorders. The test is performed between the 9th and 14th week of pregnancy. The risk of miscarriage after this procedure is about 1%.

3. Analysis of a blood sample from the umbilical cord.

This analysis is carried out after the 18th week of pregnancy. The test is associated with a higher risk of miscarriage than other methods. It is done on very rare occasions.

Modern prenatal tests:

1. Analysis of circulating fetal DNA.

This analysis is not yet available in all hospitals, even in the West. The unique method allows finding and examining the child's genetic material circulating in the mother's blood. Using the analysis of circulating fetal DNA, both Down syndrome and other chromosomal abnormalities can be detected. In this case, there is no risk to the fetus.

2. Pre-implantation genetic analysis.

This is an analysis that is performed during artificial insemination to exclude genetic defects in the embryo before it is implanted in the uterus.

Diagnosis of Down syndrome in newborns:

After birth, the suspicion of Down's syndrome may already arise because of the appearance of the child. If the newborn has characteristic external manifestations of Down syndrome, then the doctor may prescribe a chromosomal analysis. If additional genetic material is detected in all or some cells in the 21st pair of chromosomes, then Down syndrome is confirmed.

Down syndrome treatment

Early diagnosis and proper treatment helps children with Down Syndrome to fulfill their potential and improve their health and quality of life.

In developed countries, very strong programs to help children with Down syndrome have been operating for many years. These programs may differ, but they usually involve large teams of doctors, psychologists and educators. These programs aim to develop a child's motor skills, speech, communication and self-care skills.

The team of doctors who should work with these children includes:

Pediatrician.
. Pediatric cardiologist.
. Pediatric gastroenterologist.
. Pediatric endocrinologist.
. Pediatric neuropathologist.
. Development Specialist.
. Physiotherapist.
. Audiologist.
. speech therapist, etc.

What to expect?

Children with Down syndrome develop with a significant lag, later they begin to crawl, sit, stand and talk. Some mental retardation will accompany the child all his life. In addition, these children often have severe malformations of the internal organs, which sometimes require complex operations. But early intervention will help increase the child's chances.

Complications of Down syndrome

1. Heart defects.

Approximately half of children with Down syndrome suffer from congenital heart defects. These defects may require surgical treatment at an early age.

2. Leukemia.

In childhood, patients with Down syndrome are more likely to suffer from leukemia than healthy children.

3. Infectious diseases.

Due to defects in the immune system, patients are very susceptible to various infectious diseases, including colds.

4. Dementia.

In adulthood, patients are at high risk of dementia caused by the accumulation of abnormal proteins in the brain. Symptoms of dementia usually appear before the patient reaches the age of 40. This type of dementia has a high risk of seizures.

5. Sleep apnea.

Due to soft tissue and skeletal anomalies, patients are prone to airway obstruction. People with Down syndrome are at high risk of obstructive sleep apnea.

6. Obesity.

Patients with Down's syndrome are more prone to obesity than the general population.

7. Other problems.

Down's syndrome is associated with severe disorders such as megacolon, bowel obstruction, thyroid problems, early menopause, seizures, hearing loss, bone weakness, and poor vision.

8. Short life expectancy.

The life expectancy of patients with Down syndrome largely depends on the severity of the disease and the possibilities of medicine. In the 1920s, children with this pathology did not live past the age of 10. Today, in Western countries, the life expectancy of patients reaches 50 years, and even more.

Down Syndrome Prevention

There are no reliable methods of preventing this disease. The only thing that can be recommended is timely genetic counseling, especially if there were similar problems in the family or the mother's age exceeds 35 years.

They have been talking about "sunny" children for a long time. They are kind and gentle, but have some developmental disabilities. It's all about the violation of the chromosome grouping at the stage of development of the organism, where an additional copy appears. How to protect your family from such troubles? Is it possible to influence the birth of a healthy child during fetal development?

The concept and general provisions of Down syndrome

Down syndrome was described in 1862 by the British physician John Langdon Down. He described the features of the development of pathology in children, and in 1866 published his research results. For a long time, the causes of the presented disease were not known, but already by the method of various studies in the middle of the 20th century, scientists revealed the peculiarity of the behavior and formation of a pair of chromosomes that cause the described pathology. Down's disease was named after the first published research by a British doctor.

The disease is a pathology caused by a chromosomal abnormality, which is expressed in the formation of additional copies in 21 pairs. People with Down syndrome have pronounced features in the structure of the body, which is quite remarkable and easily determined at first glance. Here are distinguished:

• flat face and back of the head;
• an altered shape of the cut of the eyes, which is more reminiscent of the Mongoloid race of people;
• characteristic skin fold on the neck;
• physiological shortening of the limbs and other features are noted.

The presented disease cannot be characterized by certain developmental consequences, since today there are a number of examinations and appropriate treatment that can somewhat correct the behavior and mental abilities of a child born with Down syndrome. Cases are noted that masters of arts grow out of such children. They find meaning in life in painting or on stage. There are special theater venues where actors with Down syndrome play. But it should be noted that not all children achieve such heights in life. Many of them remain under the care of adults and need regular and daily care.

Causes of Down syndrome

What causes Down's disease? Many expectant mothers are concerned about such issues, believing that they can affect the development of the fetus, and therefore protect their child from birth with severe pathologies. In the case of the described disease, it is not worth talking about precautionary measures. There are no external factors that would adversely affect the fetus and lead to a chromosomal abnormality. Young parents, of course, should lead a healthy lifestyle before conceiving a baby and during pregnancy, but the rejection of medications or regular exercise for a better pregnancy cannot positively affect the formation of protection or direct their influence on the correct formation of chromosome pairs.

How many chromosomes does a person with Down's disease have? A healthy person has a normal karyotype with 46 chromosomes in DNA. In a patient with Down syndrome, copies are formed, and, therefore, 47 chromosomes are already found in DNA.

Why are children born with Down syndrome?

To the question: “Why are children born with Down syndrome?”, You can answer in more detail. The DNA of a small person includes 46 chromosomes from the mother and the same number from the father. In the process of formation, it turns out that a small female organism contains 23 pairs of XX chromosomes in DNA, and a male 23 pairs of XY. The formation of copies of chromosomes occurs in 21 pairs due to:

• if paired chromosomes did not separate during the formation of an egg or sperm;
• there was a violation of cell division immediately after fertilization;
• possible inheritance of the presented genetic mutations, which parents may not be aware of.

It is impossible to influence the division and formation of the karyotype. You can learn about the subsequent changes at the stage of fetal development or after its birth.

The causes of Down syndrome may progress somewhat as risk factors increase. And if there is no need to talk about the impossibility of a beneficial effect on the development of the fetus, then the risk factors should be mentioned and considered in more detail.

Risk Factors for Having a Baby with Down Syndrome

Although scientists claim that it is impossible to independently influence the formation of chromosome pairs, studies show that a certain risk of having a child with Down syndrome can be noted. For example, about 80% of children with the presented disease are born to women over 35 years old, while about the same percentage is the birth of children from fathers over 42 years old.

A few years ago, the statistics of children born with Down syndrome approached the threshold of 1:700 babies. To date, this threshold has been significantly reduced and amounts to one newborn per 1,100 children. Such transformations took place thanks to careful and modern diagnostic methods even at the stage of development and formation of the fetus.

An increased risk of Down syndrome can also be observed with other important factors related to the period of pregnancy and the characteristics of conception:

• the age of the parents;
• smoking and other bad habits of parents;
• conception while under the influence of drugs or alcohol;
• excess weight of the expectant mother;
• excess number of fetuses in one pregnancy;
• parents with type 1 and type 2 diabetes mellitus;
• conception through artificial insemination.

For comparison, statistics can be given in accordance with the age characteristics of a young mother. So, for example, in a pregnant woman aged 20 to 24, the risk of having a sick baby is reduced to 1:1562, while in a woman over 45, the risk increases to 1:19. It is also necessary to consider the likelihood of Down syndrome on a hereditary basis.

Inheritance of the disease

The transmission of Down syndrome in 90% of cases does not occur due to a hereditary factor. The mentioned changes in the formation of cell DNA occur independently, without previous factors, and also without the influence of external influences.

Down syndrome is inherited most often in the presence of the described problems in young parents. Here there is an overabundance of chromosomes due to the presence of copies in the parents, so the likelihood of the baby developing consequences greatly increases. So, for example, if a woman with the described syndrome decided to give birth to a child from a healthy man, the probability of a pathology in a baby is reduced to 30-50% of cases. If the birth of a baby by a sick woman comes from a sick man, the development of pathology increases to almost 100%.

Forms of manifestation of Down syndrome

The karyotypic anomaly contains three forms of Down syndrome, in which they distinguish:

1. Simple - has a second name, like "regular". It is detected in 94% of cases of diseases. It is characterized with the usual manifestations for this syndrome in the form of a bifurcation of the chromosome in 21 pairs. DNA has a disorder in the cells of almost the entire organism. As for the transmission of such manifestations in future generations, the likelihood increases due to the presence of the disease in the parents.
2. Mosaic form of Down syndrome - manifests itself in 1-2% of cases of detection of the disease. It is characterized by the presence of violations in the formation of pairs of chromosomes in only one cell at the stage of fusion of the egg and sperm. As a result, this entails broken DNA only in a certain part of the body's cells, occurring through division at the stage of formation of a new organism.
3. Translocation form - detected in 4-5% of cases of the syndrome. It is characterized by a shift of the bifurcated chromosome from 21 to 4, 5, 13 and 22 pairs. The presented manifestations do not have any specific factors of influence. Relocations happen spontaneously. But in the case of the birth of a child in parents with the described form of Down syndrome, the likelihood of developing such a pathology increases to 15%.

These forms can significantly affect the future life, activities and mental abilities of a baby with Down syndrome. With a mosaic form, children are more independent and can engage in any kind of creativity, which, in principle, is noted much more often. Also, these children are less likely to have problems with the work and functioning of internal organs.

Identification of Down syndrome at the stage of embryo development

Can Down's Syndrome be Diagnosed by Ultrasound? It is possible to determine, but already at a later date (after about 18 weeks), which entails psychological trauma for a woman, since she needs to make a decision about the possibility of leaving the child or not burdening herself with future torment while raising the baby. In order to avoid such problems, in recent years, pregnant women are sent for tests already at 10-12 weeks.

Testing in the first trimester of pregnancy

In the period from 11 to 13 weeks and 6 days, a pregnant woman undergoes a special blood test, which helps to determine the existing developmental abnormalities. The following indicators are defined here:

1. The pregnancy hormone hCG determines the level of the β-subunit, which, during normal fetal development, does not exceed 2 MoM. In the case of the development of Down syndrome in a baby, this figure is much higher.
2. PAPP-A level - plasma protein-A. With the development of the described syndrome, the level does not exceed the normal value of 0.5 MoM.
3. The thickness of the collar space is also examined according to the results of ultrasound, which in pathology exceeds the norm of 3 mm. This indicator has other aspects, which are also subsequently identified through appropriate analyses.

If all three indicators have deviations from the norm, then the likelihood of a baby developing Down syndrome rises to 86%. To confirm the probability of pathology with values ​​of 100%, a pregnant woman is offered to conduct an additional diagnosis of Down syndrome, although now she can independently decide to terminate the pregnancy.

An additional examination is characterized by the sampling of chorionic villi, which is carried out through the cervix - transcervical amnioscopy. Based on its results, doctors can assert with absolute certainty that the embryo has a developing pathology. Oddly enough, but doctors are quite humane about abortion. And if a woman decides to terminate, no one condemns her, and if medical workers refuse to carry out the procedure, the attending physician of the pregnant woman “issues a referral” with the results of the transcervical amnioscopy examination attached.

Testing in the second trimester of pregnancy

At 16-18 weeks, and in some regions it may be later, a second screening is carried out for a pregnant woman, where a developing fetus with Down syndrome can already be recognized by its “appearance”.

It has the following features:

• the fetus is much smaller in size relative to the required parameters at 16-18 weeks;
• there is a lack or decrease in the nasal bone;
• there are changes in the upper jaw of the fetus;
• enlarged bladder;
• characteristic changes and reduction in the shoulder and femur bones;
• there is a decrease in the number of arteries in the umbilical cord of the baby (with normal development, two arteries are expressed, and with the development of the described syndrome, it is only one);
• a pregnant woman is diagnosed with oligohydramnios or the complete absence of amniotic fluid;
• the fetal heart rate is increased in comparison with the norm.

If the examination of pregnant women for Down's syndrome in the second trimester showed positive results, the woman is offered an invasive diagnosis, which includes transabdominal aspiration of placental villi and transabdominal cordocentesis with puncture of the umbilical cord vessels.

How to recognize Down syndrome in a newborn?

Despite the development of technology and numerous methods of medical examination, sometimes there are cases of unexpected birth of children with Down syndrome in completely healthy parents. In developed countries, this is possible only if the pregnant woman has not undergone appropriate examinations and has not been subjected to ultrasound. As a rule, this was her purely personal decision, since medical institutions take the tests described above quite seriously and require pregnant women to undergo them. Pregnant women should understand that by such a neglectful attitude to your health and the health of the unborn child, you not only take responsibility for yourself, but also expose yourself to the further upbringing of a sick child, which can be quite difficult and sometimes painful.

If such a situation has occurred (which sometimes happens after all examinations during pregnancy, which did not reveal deviations from the norm), a newborn child with a pathology can be identified only by appearance.

Newborn babies with Down syndrome are:

• a shortened and small skull, the volumes of which deviate from the norm;
• distinctive shape of the ears;
• a saddle-shaped nose with a flattened bridge;
• small mouth and chin;
• in the inner corners of the eyes there are characteristic folds;
• when examining the tongue, numerous furrows can be detected;
• a short neck, as if the head comes from the shoulders, with a characteristic fold;
• short limbs with a flat palm;
• there is a shortening of the fingers, also having a special swelling;
• on the palms of the hands you can notice a transverse fold;
• a large distance between the toes (first and second);
• weak muscle tone.

Almost all the signs of newborn children are manifested in a bright form. As the baby grows, some symptoms become invisible to the naked eye. Muscle tone is getting stronger, and the child becomes healthier.

Down syndrome treatment

The main issue remains the possibility of curing children with Down syndrome, because there are quite modern technologies that make it possible to determine the development of the pathology even in the initial stages of pregnancy. So, can Down syndrome be cured?

Unfortunately, Down syndrome is currently incurable, and it is unlikely that scientists will find ways to change and restore the DNA structure of a sick person's cell. But progress does not stand still, and today experts are still trying to overcome the development of the presented disease, since the birth rate of children with pathology has exceeded all limits - every year at least 5,000 newborns with Down syndrome are born in the world. Conducting research contributes to the formation of a new method that needs to be tested. Oddly enough, but there are enough people who want to try out a new technique. Some patients become more independent and develop creative and mental abilities. There is no complete recovery or prevention of development.

In order for the baby to be independent, he needs to develop fine motor skills. It also contributes to the development and formation of speech. From birth, babies undergo various procedures, and at home, parents should regularly conduct gymnastics, which can include both traditional exercises and special ones aimed at developing simple skills: holding a spoon, a pen, fastening buttons on their own.

Sick children are initially registered with all highly qualified specialists: ENT, ophthalmologist, neurologist, orthopedist and other doctors. This is a forced necessity, since children often experience the development of diseases of internal organs that require quick and qualified assistance. Also, often the treatment of other accompanying diseases is not complete without operable surgical intervention. The task of all parents whose children are born with Down syndrome is to undergo regular examinations in order to help the child in time and prevent complications.

The development of mental abilities in children with Down syndrome

Pregnant women always think about the possibility of raising a full-fledged child in the future before deciding to terminate a pregnancy. As a rule, people with Down syndrome cannot be classified as completely disabled people who are more like disabled people who do not have the ability to serve themselves. Yes, children with pathologies cannot be put on the same level as healthy children, but they also attend specialized schools and are taught simple reading and writing skills. They have deviations and a pronounced lag in mental, physical and speech development. With the right approach and physiotherapy with gymnastics, a child can grow up to be quite full-fledged. In the history of cinema and theatrical activity, there are vivid examples in the form of actors with Down syndrome, who, along with other full-fledged people, act in films and play on stage. At the same time, it should be noted that the theater troupe and the film crew accept such actors as full-fledged people, and the audience does not notice the catch. Basically, such high results are associated with the quantitative value of the affected cells, that is, the form of pathology.

Therefore, if you have been diagnosed with the development of fetal pathology, you should not panic and make a momentary decision to terminate the pregnancy. In medicine, cases of erroneous diagnosis of Down syndrome in the fetus are recorded. Of course, in developed countries, such a percentage of probability is practically reduced to zero, but it is still present.

Causes of death for people with Down syndrome

Children with Down syndrome are already born with a whole "bouquet" of diseases that can subsequently cause death. According to experts, it is the presence of concomitant diseases that affects the life expectancy of people with pathology. Here the question becomes extremely important: how long do Downa's children live?

Newborns with the presented pathology have a high risk of dying due to heart failure in the first year of life. If the "dangerous" milestone - the age of up to three years - is passed, the child has a great chance to live to old age. Today, the life expectancy of people with Down syndrome is about 55 years. There are cases of longevity of sick people up to 80-90 years of age, which is associated with the prevention of concomitant diseases.

The causes of death for a person with Down syndrome include:

1. Suicide. Surely many will be surprised, but patients take their own lives voluntarily. This is due to the presence of depression and anxiety, which is caused by a violation of the neuralgic basis. Similar mental illnesses occur in 30% of sick people, autism is noted in 10% of cases. Experts say that most people with Down syndrome have not been confirmed by any family troubles or social rejection. Such people do not understand that some of their ongoing methods can take their own lives. Cases in which sick people committed suicide intentionally are few.
2. Heart disease. Deaths due to the presence of heart disease occupy a leading position. It is noted that more than 40% of newborns with the presented syndrome have various heart diseases. A healthy newborn acquires similar problems in the process of its further development and life. Most patients have a precardioventricular or interventricular septal defect, which contributes to circulatory disorders, resulting in heart failure.
3. Cancer. People with Down syndrome have a significantly increased risk of cancer. Moreover, here it is impossible to talk about a solid form of cancer manifestations, that is, in such people it is almost impossible to form a malignant tumor. The development of leukemia is distinguished, and testicular cancer is common in men. It should be noted that such dangerous manifestations in people with the syndrome are practically not treated, since in this case there is a risk of shortening the duration, rather than increasing and alleviating suffering.
4. Endocrine system. The endocrine system is also subject to significant changes, and most importantly, leads to the risk of developing diseases that lead to the death of people with Down syndrome. So, for example, the development of type 1 diabetes mellitus, which can lead to amputation of limbs, as well as glycemic coma, is distinguished by dangerous consequences in violations.
5. Severe immunodeficiency. Due to weak immunity, the body of a person with Down syndrome is not able to resist infection, which leads to a general infection of the blood and failure of the functioning of internal organs. In an advanced case, even ordinary sinusitis can be fatal, so the parents of a sick child should carefully monitor the health of their baby and carry out preventive procedures.

Reproductive function of people with Down syndrome

Cases of the birth of children with Down syndrome from the same sick parents are quite rare. Often this is due to the low reproductive function of sick men - men with trisomy 21 pairs are infertile. As for women, about half of the patients are fertile. They go through menopause at an early age, so they cannot conceive a baby, even if they really want to.

Men with other forms of the syndrome can theoretically conceive a child, but they will have to try hard in this. Experts believe that the low probability of conceiving a child in a man is expressed with a problem of sperm production. But some doctors reduce the problem with fertility to a lack of sexual activity. They argue that men and women with the described syndrome, despite their low reproductive function, are quite capable of having an active sex life.

According to statistics, about 30 children are born to sick people with Down syndrome per year. In this case, in the case of a disease in the mother, 26 cases are detected, and only 3 children are born from a sick father.

A genetic pathology caused by changes in the 21st chromosome is a mosaic Down syndrome. Consider its features, methods of diagnosis, treatment and prevention.

Down's disease is one of the most common congenital genetic disorders. It is characterized by a pronounced mental retardation and a number of intrauterine anomalies. Due to the high birth rate of children with trisomy, many studies have been conducted. Pathology occurs in representatives of all peoples of the world, so no geographical or racial dependence has been established.

ICD-10 code

Q90 Down syndrome

Epidemiology

According to medical statistics, Down syndrome occurs in 1 child in 700-1000 births. The epidemiology of the disorder is associated with certain factors: hereditary predisposition, bad habits of parents and their age.

The pattern of the spread of the disease is not related to the geographical, gender, nationality or economic status of the family. Trisomy is caused by disturbances in the development of the child.

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Causes of Mosaic Down Syndrome

The main causes of mosaic Down syndrome are associated with genetic disorders. A healthy person contains 23 pairs of chromosomes: female karyotype 46,XX, male 46,XY. One of the chromosomes of each pair is transmitted from the mother, and the second from the father. The disease develops as a result of a quantitative violation of autosomes, that is, excess genetic material is added to the 21st pair. Trisomy 21 is responsible for the symptoms of the defect.

Mosaic syndrome can occur for the following reasons:

• Somatic mutations in the zygote or in the early stages of cleavage.
• Redistribution in somatic cells.
• Segregation of chromosomes during mitosis.
• Inheritance of a genetic mutation from mother or father.

The formation of abnormal gametes may be associated with certain diseases of the genital area of ​​the parents, radiation, smoking and alcoholism, taking medications or drugs, as well as with the environmental situation of the place of residence.

About 94% of the syndrome is associated with simple trisomy, that is: karyotype 47, XX, 21+ or 47, XY, 21+. Copies of the 21st chromosome are present in all cells, since during meiosis the division of paired chromosomes is disrupted in parental cells. About 1-2% of cases are due to impaired mitosis of embryonic cells at the gastrula or blastula stage. Mosaicism is characterized by trisomy in derivatives of the affected cell, while the rest have a normal chromosome set.

In the translocation form, which occurs in 4-5% of patients, the 21st chromosome or its fragment is translocated to the autosome during meiosis, penetrating with it into the newly formed cell. The main objects of translocation are 14, 15, less often 4, 5, 13 or 22 chromosomes. Such changes can be accidental or inherited from a parent who is a carrier of a translocation and a normal phenotype. If the father has such disorders, then the risk of having a sick child is 3%. When carried by the mother - 10-15%.

Risk factors

Trisomy is a genetic disorder that cannot be acquired in a lifetime. Risk factors for its development are not related to lifestyle or ethnicity. But the chances of giving birth to a sick child increase under such circumstances:

• Late birth - women in labor 20-25 years old have minimal chances of giving birth to a baby with the disease, but after 35 years the risk increases significantly.
• Father's age - many scientists argue that a genetic disease depends not so much on the age of the mother, but on how old the father is. That is, the older the man, the higher the chances of pathology.
• Heredity - medicine knows the case when the defect was inherited from close relatives, given that both parents are absolutely healthy. However, there is a predisposition to only certain types of the syndrome.
• Incest - marriages between blood relatives entail genetic mutations of varying severity, including trisomy.
• Bad habits - negatively affect the health of the unborn baby, so tobacco abuse during gestation can lead to genomic abnormalities. The same is true for alcoholism.

There are suggestions that the development of malaise may be associated with the age at which the grandmother gave birth to the mother and other factors. Thanks to preimplantation diagnosis and other research methods, the risk of having a Down child is significantly reduced.

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Pathogenesis

The development of a genetic disease is associated with a chromosomal abnormality, in which the patient has 47 chromosomes instead of 46. The pathogenesis of mosaic syndrome has a different mechanism of development. Sex cells-gametes of parents have a normal number of chromosomes. Their fusion resulted in the formation of a zygote with a 46,XX or 46,XY karyotype. In the process of dividing the original cell, the DNA failed, and the distribution was incorrect. That is, some of the cells received a normal karyotype, and some - a pathological one.

This kind of anomaly occurs in 3-5% of cases. It has a positive prognosis, since healthy cells partially compensate for the genetic disorder. Such children are born with external signs of the syndrome and developmental delay, but their survival rate is much higher. They are less likely to have internal pathologies that are incompatible with life.

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Symptoms of Mosaic Down Syndrome

An abnormal genetic feature of an organism that occurs with an increase in the number of chromosomes has a number of external and internal signs. Symptoms of mosaic Down syndrome are manifested by a lag in mental and physical development.

The main physical symptoms of the disease:

• Small and slow growing.
• Muscle weakness, decreased strength function, weakness of the abdominal cavity (sagging belly).
• Short, thick neck with folds.
• Short limbs and a large distance between the thumb and forefinger on the feet.
• Specific skin fold on the palms of children.
• Low set and small ears.
• Distorted shape of the tongue and mouth.
• Crooked teeth.

The disease causes a number of deviations in development and health. First of all, it is cognitive retardation, heart defects, problems with teeth, eyes, back, hearing. Tendency to frequent infectious and respiratory diseases. The degree of manifestations of the disease depends on congenital factors and the right treatment. Most kids are trainable, despite the mental, physical and mental lag.

First signs

Mosaic Down syndrome has less pronounced symptoms, unlike the classic form of the disorder. The first signs can be seen on ultrasound at 8-12 weeks of gestation. They are manifested by an increase in the collar zone. But ultrasound does not give a 100% guarantee of the presence of the disease, but allows you to assess the likelihood of malformations in the fetus.

The most characteristic external symptoms, with their help, doctors presumably diagnose the pathology immediately after the birth of the baby. The defect is characterized by:

• Slanted eyes.
• "Flat" face.
• short head.
• Thickened cervical skin fold.
• Semilunar fold at the inner corner of the eyes.

Upon further examination, the following problems are revealed:

• Decreased muscle tone.
• Increased joint mobility.
• Deformation of the pile of cells (keeled, funnel-shaped).
• Broad and short bones, flat occiput.
• Deformed ears and folded nose.
• Small arched sky.
• Pigmentation along the edge of the iris.
• Transverse palmar crease.

In addition to external symptoms, the syndrome also has internal disorders:

• Congenital heart defects and other disorders of the cardiovascular system, anomalies of large vessels.
• Pathologies from the respiratory system, caused by structural features of the oropharynx and a large tongue.
• Strabismus, congenital cataract, glaucoma, hearing impairment, hypothyroidism.
• Gastrointestinal disorders: intestinal stenosis, atresia of the anus and rectum.
• Hydronephrosis, renal hypoplasia, hydroureter.

The above symptoms require constant treatment to maintain the normal state of the body. It is congenital malformations that are the reason for the short life of downs.

External signs of a mosaic form of Down syndrome

In most cases, the external signs of the mosaic form of Down syndrome appear immediately after birth. Due to the high prevalence of gene pathology, its symptoms are studied and described in detail.

Changes in the 21st chromosome are characterized by such external signs:

1. Abnormal structure of the skull.

This is the most noticeable and pronounced symptom. Normally, babies have a larger head than adults. Therefore, any deformities are visible immediately after birth. The changes relate to the structure of the cranium and the facial skull. The patient has a disproportion in the region of the bones of the crown. There is also a flattening of the occiput, a flat face, and pronounced ocular hypertelorism.

1. Eye development disorders.

A person with this disease resembles a representative of the Mongoloid race. Such changes appear immediately after birth and persist throughout life. In addition, it is worth canceling strabismus in 30% of patients, the presence of a skin fold at the inner corner of the eyelid and pigmentation of the iris.

1. Congenital defects of the oral cavity.

This kind of disorder is diagnosed in 60% of patients. They create difficulties in feeding the child, slowing down his growth. A person with the syndrome has an altered surface of the tongue due to a thickened papillary layer (furrowed tongue). In 50% of cases, there is a gothic palate and violations of the sucking reflex, a half-open mouth (muscular hypotension). In rare cases, there are anomalies such as "cleft palate" or "cleft lip".

1. Wrong shape of the ears.

This violation occurs in 40% of cases. Underdeveloped cartilages form the wrong auricle. Ears can be protruding in different directions or located below eye level. Although the defects are cosmetic, they can cause serious hearing problems.

1. Additional skin folds.

They occur in 60-70% of patients. Each skin fold is caused by the underdevelopment of the bones and their irregular shape (the skin does not stretch). This external sign of trisomy manifests itself as excess skin on the neck, thickening in the elbow joint and a transverse fold in the palm.

1. Pathologies of the development of the musculoskeletal system

Occur due to a violation of intrauterine development of the fetus. The connective tissue of the joints and some bones do not have time to fully form before birth. The most common anomalies are: short neck, increased joint mobility, short limbs, and deformed fingers.

1. Chest deformity.

This problem is associated with underdevelopment of bone tissue. Patients have deformity of the thoracic spine and ribs. Most often, a protruding sternum above the surface of the chest is diagnosed, that is, a keeled shape and deformation, in which there is a funnel-shaped depression in the solar plexus area. Both disorders persist as they mature and grow. They provoke violations in the structure of the respiratory apparatus and the cardiovascular system. Such external symptoms indicate a poor prognosis of the disease.

Forms

The syndrome has several types, consider them:

• Mosaic - an extra chromosome is not found in all cells of the body. This type of disease accounts for 5% of all cases.
• Family - occurs in 3% of patients. Its peculiarity is that each of the parents has a number of deviations that are not expressed outwardly. During fetal development, part of the 21st chromosome is attached to another, making it a pathological information carrier. Parents with this defect give birth to children with the syndrome, that is, the anomaly is inherited.
• Duplication of part of the 21st chromosome is a rare type of disease, the peculiarity of which is that the chromosomes are not able to divide. That is, additional copies of the 21st chromosome appear, but not for all genes. Pathological symptoms and external manifestations develop if fragments of ruts are duplicated, which determine the clinical picture of the defect.

Complications and consequences

Chromosomal mosaicism causes consequences and complications that adversely affect the state of health and significantly worsen the prognosis of the disease.

Consider the main dangers of trisomy:

• Pathologies of the cardiovascular system and heart defects. About 50% of patients have congenital defects that require surgical treatment at an early age.
• Infectious diseases - defects in the immune system provoke increased sensitivity to various infectious pathologies, especially colds.
• Obesity - people with the syndrome have a greater tendency to be overweight than the general population.
• Diseases of the hematopoietic system. Downs are more likely to suffer from leukemia than healthy children.
• Short life expectancy - the quality and duration of life depends on the severity of congenital diseases, the consequences and complications of the disease. Back in the 1920s, people with the syndrome did not live to be 10 years old, today the age of patients reaches 50 years or more.
• Dementia - dementia and persistent cognitive decline associated with the accumulation of abnormal proteins in the brain. Symptoms of the disorder occur in patients under 40 years of age. This disorder is characterized by a high risk of seizures.
• Stopping breathing during sleep - sleep apnea is associated with an abnormal structure of soft tissues and the skeleton, which are subject to airway obstruction.

In addition to the complications described above, trisomy is characterized by thyroid problems, bone weakness, poor eyesight, hearing loss, early menopause, and bowel obstruction.

Diagnosis of mosaic Down syndrome

It is possible to identify a genetic pathology even before birth. Diagnosis of mosaic Down syndrome is based on the study of the karyotype of blood and tissue cells. In early pregnancy, a chorionic biopsy is performed to reveal signs of mosaicism. According to statistics, only 15% of women who have learned about genetic abnormalities in a child decide to leave him. In other cases, premature termination of pregnancy is indicated - abortion.

Consider the most reliable methods for diagnosing trisomy:

• Biochemical blood test - blood for research is taken from the mother. The body fluid is assessed for β-hCG and plasma protein A. In the second trimester, another analysis is performed to monitor the levels of β-hCG, AFP and free estriol. Decreased levels of AFP (a hormone produced by the liver of the fetus) are highly likely to indicate a disease.

• Ultrasound - performed in each trimester of pregnancy. The first allows you to identify: anencephaly, cervical hygroma, determine the thickness of the collar zone. The second ultrasound makes it possible to track heart disease, anomalies in the development of the spinal cord or brain, disorders of the gastrointestinal tract, hearing organs, and kidneys. In the presence of such pathologies, termination of pregnancy is indicated. The last test, carried out in the third trimester, may reveal minor disorders that can be corrected after childbirth.

The above studies allow you to assess the risk of having a child with the syndrome, but they do not give an absolute guarantee. At the same time, the percentage of erroneous results of diagnostics carried out during pregnancy is small.

Analyzes

Diagnosis of genomic pathology begins during the gestation period. Analyzes are carried out in the early stages of pregnancy. All tests for trisomy are called screenings or screenings. Their questionable results suggest the presence of mosaicism.

• First trimester - up to 13 weeks, an analysis is carried out for hCG (human chorionic gonadotropin) and PAPP-A protein, that is, substances secreted only by the fetus. In the presence of the disease, hCG is increased, and the level of PAPP-A is lowered. With such results, an amnioscopy is performed. Tiny particles of chorion are removed from the uterine cavity of a pregnant woman through the cervix.

• Second trimester - tests for hCG and estriol, AFP and inhibin-A. In some cases, a study of genetic material is carried out. For its fence, a puncture of the uterus is made through the abdomen.

If, according to the results of the tests, a high risk of trisomy is established, then the pregnant woman is prescribed a consultation with a geneticist.

Instrumental diagnostics

To identify intrauterine pathologies in the fetus, including mosaicism, instrumental diagnostics are indicated. If Down's syndrome is suspected, screenings are done throughout the pregnancy, as well as an ultrasound to measure the thickness of the posterior cervix of the fetus.

The most dangerous method of instrumental diagnostics is amniocentesis. This is a study of amniotic fluid, which is carried out for a period of 18 weeks (a sufficient volume of fluid is required). The underlying danger of this analysis is that it can lead to infection of the fetus and mother, rupture of the fetal bladder and even miscarriage.

Differential Diagnosis

The mosaic form of changes in the 21st chromosome requires careful study. Differential diagnosis of Down syndrome is carried out with the following pathologies:

• Klinefelter syndrome
• Shereshevsky-Turner syndrome
• Edwards syndrome
• de la Chapelle syndrome
• congenital hypothyroidism
• Other forms of chromosomal abnormalities

In some cases, mosaicism on the XX/XY sex chromosomes leads to true hermaphroditism. Differentiation is also necessary for mosaicism of the gonads, which are a special case of organ pathology that occurs in the late stages of embryonic development.

Treatment of mosaic Down syndrome

Therapy of chromosomal diseases is not possible. Treatment of mosaic Down syndrome is lifelong. It is aimed at eliminating malformations and concomitant diseases. A person with this diagnosis is under the control of such specialists: pediatrician, psychologist, cardiologist, psychiatrist, endocrinologist, ophthalmologist, gastroenterologist and others. All treatment is aimed at social and family adaptation. The task of parents is to teach the baby complete self-service and contact with others.

Treatment and rehabilitation of downs consists of the following procedures:

• Massages - the muscular system, both of an infant and an adult with this syndrome, is underdeveloped. Special gymnastics helps to restore muscle tone and maintain them in good condition. Particular attention is paid to hydromassages. Swimming and water gymnastics improve motor skills, strengthen muscles. Dolphin therapy is popular when the patient swims with dolphins.
• Dietitian consultations - patients with trisomy have problems with being overweight. Obesity can provoke various disorders, the most common being disorders of the cardiovascular system and the digestive tract. The dietitian gives recommendations on nutrition and, if necessary, prescribes a diet.
• Consultations of a speech therapist - for mosaicism, as well as for other types of syndrome, disturbances in the development of speech are characteristic. Classes with a speech therapist will help the patient correctly and clearly express their thoughts.
• A special training program - children with the syndrome lag behind their peers in development, but they are trainable. With the right approach, the child can master the basic knowledge and skills.

Patients are shown restorative therapy, psychostimulants, neurometabolic and hormonal drugs are often prescribed. Regular intake of vitamins is also necessary. All drug therapy is combined with medical and pedagogical correction. Congenital pathologies and complex diseases require surgical intervention.

Prevention

To date, there are no reliable methods for the prevention of genetic diseases. Prevention of mosaic Down syndrome consists of the following recommendations:

• Timely treatment of any diseases and a healthy lifestyle. Increased activity improves blood circulation, protecting the eggs from oxygen starvation.
• Proper nutrition and normal weight. Vitamins, minerals and other nutrients not only strengthen the immune system, but also support hormonal balance. Excess weight or excessive thinness disrupt the hormonal balance, and provoke failures in the maturation and development of germ cells.
• Preparation for pregnancy. A couple of months before the planned conception, you need to consult a gynecologist and start taking vitamin and mineral complexes. Particular attention should be paid to folic acid, vitamins B and E. They normalize the functioning of the genital organs and improve metabolic processes in the sex cells. Do not forget that the risk of giving birth to a child with abnormalities increases in couples where the age of the future mother is more than 35 years old, and the father is more than 45.

Changes in the 21st chromosome lead to irreversible consequences that cannot be treated. But, despite this, among those born with trisomy there are artists, musicians, writers, actors and many other accomplished personalities. Famous people with a mosaic form of Down syndrome boldly declare their illness. They are a vivid example of the fact that, if desired, you can cope with any problem. The following celebrities have a genomic disorder:

• Jamie Brewer is an actress best known for her role in American Horror Story. The girl not only acts in films, she is also a model. Jamie walked the Mercedes-Benz Fashion Week show in New York.



• Raymond Hu is a young artist from California, USA. The peculiarity of his paintings is that he draws them according to the ancient Chinese technique: on rice paper, watercolor and ink. The guy's most popular works are portraits of animals.



• Pascal Duquinne - actor, winner of the silver award at the Cannes Film Festival. He became famous for his role in Jaco van Dormel's film Day Eight.



• Ronald Jenkins is a world famous composer and musician. His love for music began with a gift - a synthesizer received as a child for Christmas. To date, Ronald is rightfully considered a genius of electronic music.



• Karen Gafnii is a teaching assistant and an athlete. The girl is engaged in swimming and participated in the marathon on the English Channel. She became the first person with mosaicism to swim 15 km at a water temperature of +15°C. Karen has her own charitable foundation, which represents the interests of people with chromosomal pathologies.
• Tim Harris is a restaurateur, owner of "the friendliest restaurant in the world." In addition to a delicious menu, Tim's place offers free hugs.



• Miguel Tomasin is a member of the Reynols band, drummer, guru of experimental music. The guy performs both his songs and covers of famous rock musicians. He is engaged in charity work, performs in centers and at concerts to support sick children.



• Bohdan Kravchuk is the first person in Ukraine with Down syndrome who entered the university. The guy lives in Lutsk, is fond of science, has many friends. Bogdan entered the East European National University named after Lesya Ukrainka at the Faculty of History.



As practice and real examples show, despite all the complications and problems of genetic pathology, with the right approach to its correction, it is possible to raise a successful and talented child.

According to the mother, the controller, without hiding her disgust, explained: children with mental disorders have no place on carousels ... And where is the place for these people? Why is there such persistent aggression against “others” in our society? Can this genetic disorder be called a disease? The whole truth about Down syndrome in an interview that gave the portal website clinical geneticist, obstetrician-gynecologist, scientific consultant of the Medical Genetic Center "Genomed" PhD Kudryavtseva Elena Vladimirovna

- Elena Vladimirovna, for starters, let's define the concepts. Often in the media and in various specialized forums they say that Down syndrome is not a disease. But why does a newborn who has been diagnosed with this diagnosis receive such close attention? After birth, a consultation of many doctors is prescribed, an examination that differs from “ordinary” children ...

- Many organizations and public figures oppose calling this condition a disease, which is why the term "Down syndrome" is more commonly used. In this way they try to show that these people are not sick, but simply different. However, it cannot be denied that the health status of people with Down syndrome is much worse than the general population. And I'm not even talking about intellectual and mental development. Children with Down syndrome, for example, very often have heart defects. Diseases such as diabetes mellitus and malignant tumors are also more common in these patients. Men are absolutely infertile, and in women the ability to conceive is sharply reduced. Therefore, in my opinion, people with Down syndrome cannot be considered healthy.

- Down syndrome is a chromosomal abnormality. When does this failure occur? At what stage of embryonic development?

- Most often, this violation occurs in the germ cells of the parents. An egg and a sperm should have 23 chromosomes - one from each pair. When they merge, 46 chromosomes are obtained, respectively. In this case, in the process of formation of germ cells, for some reason, a failure occurs, and instead of one 21st chromosome, the germ cell carries two. The third chromosome is added from the second parent. Therefore, as a result, after the fusion of germ cells, an organism is formed that has not 46, but 47 chromosomes (there is one extra 21 chromosome).

How do they find out about pathology? At what stage of pregnancy?

- Most often, at the 11th - 14th week of pregnancy. It is during this period that pregnant women are examined to identify a high-risk group for chromosomal pathology, the so-called screening is carried out: ultrasound, a blood test for certain biochemical parameters. Then all these data, as well as the age of the woman and some other information, are entered into a special program, and a computer calculation of the risk is made. For those patients whose risk is above 1% (1:100), invasive diagnostics (fetal material sampling) is offered. And only after that the final diagnosis is established.

To date, there is a more accurate method to avoid unnecessary penetration into the body of a future mother - a non-invasive prenatal test (NIPT). You can go through it from 9 weeks of pregnancy. Unlike standard screening, which gives only an approximate risk, NIPT detects the presence of a chromosomal abnormality with a probability of 99%. The risk is defined as either very low (1:10000) or very high (99:100). There will be no intermediate options, such as 1:300, 1:700, due to which the pathology can be missed (or vice versa, the woman experiences unnecessary worries in the absence of pathology) in this case.

- What are the statistics of the birth of such children?

- The frequency of birth of children with Down syndrome in the population is approximately 1 case per 700 births. At present, thanks to the widespread introduction of screening, the rates have dropped to 1:1500.

- Has something changed recently in the diagnosis and treatment of Down syndrome?

— This area of ​​medicine, like others, is constantly being improved. I have already mentioned that there is a new method for detecting Down syndrome in early pregnancy. After the birth of a child, the diagnosis does not present any difficulties. Correction methods, of course, also change. There are new techniques aimed at improving mental and intellectual development. Thanks to modern methods of surgical correction of heart disease, life expectancy also increases.

- In 2013, information appeared that bioengineers had learned to “turn off” the extra 21st chromosome in cell culture, the work of which causes Down syndrome. Specialists then expressed the hope that the new technique would help in the treatment of chromosomal diseases. Has the research already found practical application?

- Yes, such studies are being carried out, but so far not a single person with a chromosomal pathology has been completely cured. It is one thing to block an extra chromosome in a cell culture, and quite another - in all cells of a living organism. But this is probably a serious step towards solving the problem in the future.

— Elena Vladimirovna, what can you say about stem cell treatment? Is it really possible to develop the brain, normalize bone growth, improve the physical development of a child?

“This is indeed a very promising direction. However, as I said above, not a single person with Down syndrome has been completely cured to date, the treatment remains mostly symptomatic. In addition, the long-term consequences of this method are not fully understood. For example, there is an opinion that the use of stem cells can contribute to the development of oncology. So about stem cells today there are more questions than answers.

- There is conflicting information in the media. Some say that the development of this disease is influenced by unfavorable conditions from the outside, somewhere, on the contrary, they assure that external factors have nothing to do with it. How really?

- The cause of the disease in this case is unambiguously clear - this is an extra chromosome 21: if this chromosome is absent - there is no pathology, there is an extra chromosome - there is Down syndrome. External factors, of course, can moderately influence the level of development of the child, the severity of the syndromes, but their role in this case is much less than the role of the genetic factor.

- Does Down syndrome happen only in families in which someone has already been born with this disease?

- Unfortunately, the risk of having a child with Down syndrome exists in any family.

- A study at the planning stage of pregnancy, which showed that dad and mom are genetically completely healthy, can it serve as a guarantee that a “sunny” child will not be born in this family?

- Proper pregnancy planning can significantly increase the chances of a favorable pregnancy and the birth of a healthy child, but it is impossible to completely eliminate the risk of Down syndrome.

Are all children with this syndrome similar to each other?

- Outwardly, all children with Down syndrome have common external features. This is the so-called Mongoloid incision of the eyes, a wide bridge of the nose, a moon-shaped face, due to the enlarged tongue, the mouth is often ajar. A frequent symptom is a special striation of the palms (transverse fold), on the feet the distance between the first and second fingers is increased (sandal groove). Birth weight in such children is usually lower than in healthy newborns, muscle tone is reduced. Down syndrome is the only chromosomal syndrome that allows even before a blood test, only by external signs, it is quite accurate to make a diagnosis.

What are the forms of Down syndrome? Is it possible that a "sunny" child looks no different from ordinary children? Or vice versa - it differs only in appearance, but practically does not lag behind in development?

- Occasionally, a condition such as mosaicism is possible, when some of the cells carry a normal chromosome set, and some of them have an extra 21 chromosome. In this case, if the clone of abnormal cells is small, then the clinic will be less pronounced. With the classic Down syndrome, when all cells have an extra chromosome 21, there are always external signs of the syndrome, and a certain developmental delay.

- In the West they are called “alternatively gifted”, in Russia these children often meet with bewilderment or aggression from both their peers and adults. Often, even maternity hospital employees dissuade mothers from these babies ... Where does this trend come from?

- To begin with, the staff of the maternity hospital never persuade mothers to abandon the child if he has already been born. It is a myth. Doctors are required to provide reliable information regarding the prognosis for the life and health of the child, but at the same time they will never convince a woman to leave the baby. In Russia, indeed, the attitude towards such people still leaves much to be desired. Perhaps this is because for many years they tried to isolate “sunny” children from society, they did not communicate with “ordinary” peers, so seeing a person with Down syndrome is quite unusual, and everything unusual is frightening. And, of course, parents should understand their responsibility when such a child appears in the family. Much more time and effort will be required for his upbringing and medical care.

- Messages sometimes appear on the forums that say that people with Down syndrome are a danger to society: they often have sexual aggression, inappropriate behavior, a good-natured state is abruptly replaced by fits of rage. In response to “provocations” (?), their opponents say that this is impossible, it is not for nothing that such people are called “sunny”. So are these two sides of the same coin, or is it really evil "trolling"?

- As among healthy people, and among people with Down syndrome, the characters may differ. The term "solar children" actually exists, these kids are open, trusting, very affectionate. But at the same time, to say that a child with Down syndrome cannot have anger and aggression is also wrong. Sexual activity in men with Down syndrome is quite high, despite the fact that they are absolutely infertile.

- Is there a difference between children with Down's syndrome, brought up at home, and babies who are "raised" by a specialized institution? How much progress is possible with regular practice?

- Of course, there is. The same huge difference between "ordinary" children brought up in families and children's homes. It's no secret that a child surrounded by love and care will develop much better both physically and intellectually. This applies to children with and without Down syndrome. Therefore, regular classes with children, of course, will bear fruit. Despite the reduced level of intelligence, "sunny" children progress in development, they can learn a lot, master some profession and even become very successful in it.

The main issue in the life of a teenager with Down syndrome is study and work. While they are busy, they develop, as soon as they begin to “stay at home”, degradation begins.

Bullfinch. Lera's drawing

There are four children in the family of Nikolai Egorov. All girls. The youngest, Valeria, was born with Down syndrome. Now she is eighteen.

For eight years, Nikolai has been raising children alone: ​​his wife died suddenly. Two older girls got married, and the fate of the younger one inspires concern: Lera will be left alone and what will happen to her?

If downers "stay at home", they degrade

Valeria at her sister's wedding ceremony

- Children with Down syndrome are usually referred to as sunny children. And sometimes it seems that they go too far in this topic into the sunshine, as if there were no problems at all. But do they exist?

- The appearance of a child with Down syndrome in our family was a complete surprise - this was the first problem. This is currently being diagnosed. And at that time, 18 years ago, none of the doctors could say anything. Probably, such was the level of medicine. One doctor I knew said that in the West a specialist who did not reveal such an anomaly on ultrasound or on tests would be immediately fired for incompetence.

I saw my daughter just a few hours after giving birth. She lay in an incubator, with an oxygen mask, as she could not breathe on her own. She was suspected of having a severe heart defect. The hardest thing was listening to the doctors' reproaches about "elderly parents" (I was 37 then, and for the first time I realized that we were no longer young) and their proposals to abandon the child. But there was no thought of that.

True, not all doctors were like that. According to his wife, one of them quite seriously reported that the child realized that no one was going to refuse him, and his condition improved dramatically. And soon Lera was baptized right in the maternity hospital (the sacrament was performed by Archpriest Alexander Saltykov) and she began to breathe on her own. And after some time in the hospital, the doctors found that Lera did not have a heart defect.

I took the birth of a sick child calmly. Everything was going too well in my life, but it can’t be that everything was only good, but good. The wife suffered more. It may seem ridiculous, but her mental well-being was relieved by the fact that she went to work just a couple of months later, and numerous trips related to her work (tourist business) helped her to endure the first shock.

I had to sit with the child. To be honest, by that time I was already tired of work: I had been working since the age of 16, the experience was already more than 20 years, while at the same time I studied at the evening department of the institute for six years and for four years in correspondence postgraduate studies. The change in lifestyle brought me great joy, although financially it became harder. In recent years, I have been the head of the department of the Russian State Military Archive, with all the ensuing benefits. I had to quit my job and actually start a new life.

Of course, when they start talking about children with Down syndrome, they talk about them as sunny children. And they really are. It seems to me that this covers many of the difficulties that such children have. This is especially felt when the children grow up. In this regard, our Lera is amazing.

But in general, each downer, like any of us, is individual. Many children with Down syndrome suffer from severe physical illnesses that accompany the syndrome. For example, heart failure. This affects the overall development.

Lerochka, except for speech, and she spoke very late, developed like an ordinary baby. At six months she began to crawl, sit, at a little over a year she went. She went through all the stages at about the same time periods as ordinary children.

Of course, in children with the syndrome, some processes are slower. Our development is not a movement in a straight line, but in steps. Overcoming the "steps" sometimes takes an order of magnitude longer for downy than for healthy people. Starting from early childhood: the period of harmfulness began in the child, when all things were pulled out of the cabinets and scattered on the floor. For ordinary children, this lasts a month, two, and for downy children - six months, a year. So it is with all subsequent periods of growing up.

cat and fish

In general, in my experience as a parent, I will say that such children do not need any special medical care, except in the case of concomitant somatic diseases (there are many of them: with the thyroid gland, internal organs, hearing, vision). The only help that is really urgently needed for people with Down syndrome is pedagogical.

Children with Down syndrome really need acceptance and love, but love is as active as possible.

This love should be expressed, first of all, in the development of the child. Because it is vital for them whether they develop or not, are engaged in them or not. And you need to do much more time than with ordinary children.

For example, Leroux had to teach elementary things for a long time: how to hold bread in his hand, how to eat with a spoon and fork. And so on increasing: how to draw, write. All this went longer and more difficult than with an ordinary child. Not just longer, but much, much longer.

It is fundamentally important for people with Down syndrome to be embedded in social structures. At a younger age - this is a garden, in youth - a school.

While they are studying, they develop, as soon as they stop and start staying at home, development stops immediately, degradation begins.

I sometimes observe that in large believing families where such children are born, and usually they are among the very last, they are surrounded by love. They literally bathe in attention and care. But it is in large families, for obvious reasons, that less attention and time is paid to the development of such children than in families where the child with Down syndrome is the only one. And in terms of mental development, problems sometimes begin.

Lera goes to school, studies music and drawing

- And how did you teach Lera, how did you choose a school for her?

- A school for downy is the most important thing, not even in terms of education (it is minimal), but in terms of socialization. The road to school, understanding of space and time - what is the city, route, transport, and so on. For Lera, this is an important daily journey.

Of course, I accompany her, because in Moscow it is impossible otherwise. This city is absolutely not adapted for the disabled. Moscow is not Vienna or Paris for you. It is hostile, and not only to the disabled.

A person with Down syndrome, specifically Lera, needs a lot of help.

I'm afraid that if she takes the subway herself, one day they'll just push her onto the tracks. People with Down Syndrome are defenseless in the aggressive Moscow environment.

Lerin's school is far from home, so you have to carry it. She studies at school No. 532 of the eighth type on Pyatnitskaya Street, 46. Now this school, as part of the optimization program, has become part of the educational complex - Small Business College No. 4. Lera has been studying there since grade zero.

The Lord so arranged that in this area there are churches of St. Nicholas in Kuznetsy and the Resurrection of Christ in Kadashi, whose parishioners have been our family for many years, since Soviet times. Literally opposite the school is an Orthodox publishing house, to which I moved and worked for a long time after the birth of Lera.

We sent her to this particular school, because at that time there were only a few educational institutions in Moscow that accepted children with Down syndrome for study. For many years, these kids were considered unteachable.

Now there are many fans of integration schools, common in the West, where several children with special needs study in a class with ordinary children. On the one hand, it looks good and beautiful, as in the West, but for our conditions it is not quite acceptable.

Firstly, for normal work in such classes, a larger number of teachers is required. Secondly, in order to make it easy for healthy children and children with problems to coexist, we need classes that are not very large. In addition, each problem child needs an individual tutor, assistant. Three problem children in the class need three helpers. And in our classes, where there are already thirty students, such a system simply cannot work.

Music lesson

Lerin's school is old, with a lot of experience. Both future teachers and students of various advanced training courses practice there. Qualified teachers work in it, because there are children not only with Down syndrome, but also with cerebral palsy, psychopathy and a number of other diseases. Each of these guys requires an individual approach and an experienced specialist nearby. It is quite difficult to achieve such conditions in a general education school.

- Who helped you raise Leroux?

– All these years, while Lera was growing up, a variety of people helped us: relatives, friends, parishioners from the temple. Society Down syndrome. And also Downside Up, which was organized by Americans who came from the other side of the earth. They have done much more to change the attitude towards people with Down syndrome in Russia than our native state.

They spent a lot of money and had nothing in return. It was in this center that for several years they were seriously engaged in the development of their daughter. 18 years ago, when Downside Up came into being, we were among the first to receive help there: later they helped us with Lera's placement in a kindergarten.

The garden was just an integration one, there were 15 children in the group (five of them with developmental disabilities) and five educators and assistant educators (those who are colloquially called nannies). And all these educators did not allow themselves a single rude word addressed to the kids, even when they were naughty. I remember that I was once told: “Lerochka is behaving very well, you just need to explain to her that she does not go to bed in winter boots.”

The most advanced training programs were applied. At that time, there were no domestic developments in this area. As far as I understand, Downside Up financially supported all this training, and very solidly.

The garden gave Lera a lot. Not only self-service skills, but also the basics of reading, writing, coherent speech. She worked with great professionals. Separately, Leroy and I studied music and drawing.

Lera studied piano for six years in a music class for children with special needs O.V. Prokhorova. Olga Vladimirovna, a teacher with extensive experience, has the education of both a musician and a teacher-defectologist. She has developed a unique method of teaching children like Lerochka. I must say that she is a very strict teacher, which is also important for such children, and her classes are very intense.

cat and dog

Lera and other children regularly performed at concerts, and this gave her great pleasure.

Lera mastered the basics of the game, musical notation and other musical wisdom, but most importantly, she fell in love with music, and it became a part of her life.

Lera loved to draw since childhood, and for the last few years she has been painting in the Art class of Olga Markina. Olga Vladislavovna is also an experienced teacher, her pupils have repeatedly become winners of various competitions. Last year, Lera became a member of the Russian Art Cup and received a diploma for her painting.

How to be beautiful is now the most serious problem for Lera

bear cub

- Does Lera have teenage problems: crises, any difficulties in relationships? How do you deal with it?

- Of course, there are problems, at least the notorious teenage stubbornness. But these problems do not exist in such gross forms as in ordinary teenagers. They are all softened, or something. You know, children with Down syndrome at some point start to look much younger than their age. Our Lera is now 18 years old, but looking at her, you won’t give her more than twelve. It seems to me that this reflects the essence of these people. They are, after all, sinless souls. They do not have the vices that are characteristic of their age, so they look younger. Because they look like that, they are treated like little kids.

But, like any teenager, she worries about her appearance, is concerned about who is the most beautiful girl in the class, who the boys in the class are looking at. That is, she has problems, like any other schoolgirl of her age.

You know how it happens when girls paint themselves as princesses, dream of a prince, of a wedding, of a beautiful dress that everyone would certainly see. Her experiences are concentrated somewhere in this plane. The older she gets, the more attention she pays to her appearance. In the morning he chooses clothes, and this is a whole epic: what dress to wear, what trousers or skirt, blouse? Compatible - not compatible.

She obviously expressed a desire to look elegant, beautiful.

Does your daughter discuss this with you?

- He discusses, but I see everything myself. Every day I accompany her to school, I come for her, I see her classmates, I hear their conversations, I myself speak with teachers. She is growing before my eyes, as all my children grew up. And this allows you to understand the complexities of her growing up.

There is one rather serious problem in our family: our mother died quite early, Lera was then ten years old. Of course, it would be better if my mother was engaged in many things, in particular, talking about clothes, appearance, and something else. Lera and her sisters are discussing something, but the sisters are already adults, two of them have their own lives and live separately. And then, with sisters, there can never be such mutual understanding as with mom.

- And about Lera's "personal life", maybe falling in love, so natural in adolescence, do you know something as a father?

This topic is not open to her yet. And I hope that this cup will pass us by. But love is a broad concept. This is not only the attraction of the sexes, as it is now customary to narrowly interpret this feeling. It is also love for relatives, for loved ones, for God.

I worry that if "falling in love" happens, these feelings can easily become primitive. In this matter, probably, a lot of spiritual help is needed. And, thank God, we have it.

You know, these children are very fond of the church. Lera began church life almost from birth. For her not to go to the temple is a grave tragedy. And if she came and did not take communion, she would cry bitterly. For her, it seems to me, as sometimes happens for some people, being in church, church life, faith is a state of mind. She confesses and it is incredibly important for her to participate in the Eucharist.

Lera is aware of her sins and tries to articulate them, although I think it is rather difficult for the priest to listen to her not very intelligible speech.

When she was younger, it was very difficult to hold her back during the whole service, she stood and asked every minute, burning with impatience, when would Communion be. And after Communion, she rejoiced and could shout to the whole temple: “Hurrah! I took communion." And then, almost dancing, like King David, she went for a drink after Communion.

Does Lera have friends?

There are a few guys she hangs out with at school. But outside the school is no longer there. My daughter had one very good school friend - Vika. She does not have Down syndrome, but other problems. They were friends for several years. But at some point there was no one to take Vika and, much to my Lera’s frustration, she was taken away from school.

They don't talk on the phone because both of them speak rather badly, especially Vika. And it’s impossible to meet, because the girls live far from each other.

In general, loneliness is the main problem of such people. They are really very lonely, because they are not married, do not marry, do not have children. This is depressing and very frustrating for them. Of course, this moment needs to be somehow compensated, to create an opportunity for communication. But the numerous social beliefs that exist do not contribute to this at all. So far, we have been able to communicate only within the family, with relatives, friends in the parish.

I'm afraid of the future for Lerino

- Here Lera will finish school, and then what?

- But this is the most painful question!

Now Lera is finishing tenth grade. But the school situation is difficult. The state saves money, so children in secondary school can only study until they are 18 years old. Since Lera is studying in the structure of the college (that is, she receives secondary specialized education), she will be able to extend her education for a few more years.

She studies with great pleasure. In the future, I would like to become a landscaping specialist. She likes to plant grass and flowers.

Their college education is very good.

But the main problem of all these children is the lack of future employment prospects.

For example, my Lera is a disabled person of the first group. This means that she is not allowed to work. And since she cannot work, the state is not interested in her getting some kind of professional education.

- In Russia, if I'm not mistaken, there is only one such lucky person, a working person with Down syndrome - Masha Nefedova, who cooperates with Downside Up?

- There is also Nikita Panichev. Cook, great musician and singer. Lera studied music for quite a long time, more than six years, with the same teacher as Nikita. And I have often heard him sing and play. It's wonderful. Nikita received the specialty of a cabinetmaker and works. There was even a TV show about him.

And yet, my Lera is also studying, so I hope that she will be given a profession.

And then, I don't know. I can't imagine how many more years must pass before they realize at the top that the development of a disabled person, his condition is important to the state itself. Will a person with developmental disabilities be bedridden like a vegetable, or will he be able not only to serve himself, but also to be a useful member of society. Is there a difference?

After all, what is our scenario for the life of a child with a syndrome?

Here is a sunny child. Late and only. Lives happily with his parents. If the parents die, then he ends up in a psycho-neurological boarding school (PNI). And his relatives, if any, quickly divide the property: an apartment, a car, a summer house.

But people with Down syndrome are of great value. For example, they are excellent nurses. And in the West it has long been appreciated. They actively attract such people as nurses in hospitals and nursing homes.

That is, to such a dirty, routine and not very prestigious job from the point of view of normal ordinary people. People with Down syndrome enjoy working in these places and do not complain.

For example, our Lera loves to work with her nephew and take care of him. But if in a large family such a person always finds something to do, then in the case of single people, the path is blocked.

Of course, we discussed the future at Lerino's home. And the older daughters promise me that they will not leave her. Let's hope that this will be the case. But you understand that no one can give any guarantees.

For example, I think that Lera could plant lawns somewhere near the church ... But how will she get there when I'm not there? You see, the issue of employment, employment of a person with Down syndrome is complex.

It is not easy for a person with a syndrome to get to his place of work through our big city. After all, parents, no matter how much they love their child, are not eternal. And I'm afraid that in our conditions a person with Down's syndrome simply won't be able to lead an independent life.

Bunnies in the forest

A person with Down syndrome needs help to lead an independent life. He needs a guide. And it should not be a civil servant who is able to bend a stick only in one direction. I personally see here the prospect of assistance only from charitable foundations. There just isn't anywhere else.