Downs are similar to each other. What about in other countries? Causes of Mosaic Down Syndrome

Can a child with Down syndrome be born to relatively healthy parents who, according to all the rules, planned a pregnancy in advance? Doctors say that this is purely a genetic accident. The reasons for the birth of children with Down syndrome could be identified only from the statistics of such cases in medical practice, theoretical analysis of genetic scientists and history genetic testing"sunny" kids. Why are children born with Down syndrome? When can an anomaly be detected? Are there ways to prevent the syndrome?

Why are children born with Down syndrome?

From the point of view of physiology, pathology appears during cell division after conception. The egg begins to actively divide, not yet moving along fallopian tubes. By the time of attachment to the uterine cavity (the so-called implantation), it already becomes an embryo. If a child has Down syndrome, then this will be clear almost immediately after conception, but it is still impossible to diagnose a genetic pathology so early.

"Sunny" children appear for the reason that one extra chromosome appears in the genetic material of the mother or father. In most cases (90%), the embryo receives chromosome 24 from the mother, but it happens (10%) that it also comes from the father. In some cases (almost 6%), the pathology is associated with the presence of not a whole extra chromosome, but only its fragments.

This is how doctors answer the question of why children with Down syndrome are born. The causes and factors that provoke genetic pathology can be different, and the process is described above only from a physiological point of view.

What can be "solar" disease?

There are several forms of Down's disease. Trisomy is the case that occurs most often. Trisomy is a pathology in which one of the germ cells of the parents contains an extra chromosome 24 (normally, the child receives 23 chromosomes from the father and the same number from the mother). Merging into a second cell, the egg or sperm form a gamete with 47 chromosomes together 46.

There is a so-called "family" syndrome. In this case, the birth of a "special" child is due to the fact that in the karyotype of one of the parents there is a so-called Robertsonian translocation. So physicians call the long arm of chromosome 21, which in the process of joining and dividing cells becomes the cause of trisomy.

The easiest form of "solar" disease is mosaicism. Genetic pathology develops in the embryonic period due to non-disjunction of chromosomes during cell division. In this case, the violation occurs only in individual organs or tissues, with trisomy, the anomaly is carried by all the cells of the body of a little man.

How does maternal age affect the risk of having a child with Down's disease?

Why are children born with Down syndrome? Physicians have several opinions on this matter. Age is the most common reason future mother. The older the mother, the greater the risk of having a baby with any anomalies. At the age of twenty-five years, the probability of conceiving a handicapped baby is less than one tenth of a percent, and by the age of 40 it reaches five percent. According to medical statistics, 49-year-old mothers have one child with Down syndrome in twelve cases.

In reality, the majority (almost 80%) of "sunny" babies are born to young mothers under the age of 30. This is due to the fact that older women are usually less likely to give birth. So, the reasons for the appearance of children with Down's disease in these cases are different.

What about the age of the father?

For men, the risk of conceiving a special child increases only after 42-45 years. As a rule, this is due to age-related decline in sperm quality. Even the probability of conceiving a "sunny" baby is affected by genetic abnormalities in the cells of both the father and the mother. Some of them are not congenital, but age change. Sometimes there are cases when there are forty-five chromosomes in the cells of the spouses - then the risk of pathology increases.

What genetic causes are risk factors?

The risk of having a child with Down syndrome is higher if the cells of the parents contain similar genetic information. Often "solar" children are born with closely related ties, but occasionally it happens that similar material is contained in the cells of parents who are in no way related by blood.

The birth of a child with Down syndrome is also likely if there are genetic diseases in the pedigree, unfavorable heredity and predisposition. There is a risk if the mother has diabetes, epilepsy or an unfavorable anamnesis: there were miscarriages in previous pregnancies, stillbirth or death of a child in infancy.

Does lifestyle affect the risk of having a "sunny" baby?

Why can a child be born with Down syndrome? Doctors say that the lifestyle of future parents does not affect this in any way. However, another indication of a more attentive attitude towards the expectant mother at the first screening will be the fact long work on the harmful production. Unfortunately, it is rarely possible to find out exactly what caused the conception of a “sunny” baby, so statistics cannot be given here.

In addition, in some cases, children with Down syndrome (we study the causes of the pathology throughout the article) are born due to anomalies in the development of pregnancy. True, this can rather be attributed to genetic reasons.

What is a folate cycle disorder?

Most likely, it is the violation of the folate cycle that causes the birth of children with Down's disease in young and relatively healthy mothers. What is meant by this phrase, why are children born with Down syndrome? The reasons may lie in violations of the absorption of folic acid (it is also vitamin B9).

Doctors must prescribe folic acid to those who are already in position, and to those who are just planning a pregnancy. B9 is prescribed for good reason - a lack of an element can cause not only Down's syndrome, in which the chromosomes do not diverge, but also other pathologies of embryonic development.

Why is vitamin B9 not absorbed? Three genes are responsible for this, which are also called the folate cycle genes. Sometimes they “do not work at full capacity” and instead of 100%, the body absorbs at best 30% of folic acid. Women in whom the vitamin is not fully absorbed should take an increased dosage of folic acid and eat food enriched with B9 more often. You can find out if there are folate cycle disorders by doing a genetic test.

Lack of vitamin B9 can cause digestive problems that interfere with the absorption of nutrients.

No more research done?

The above are the reasons why children with Down syndrome are born into the world. But medicine does not stand still. Latest Research allow us to identify two more factors that can theoretically influence the probability of the birth of "sunny" children.

Indian scientists have found that not only the age of the mother herself, but also the age of the maternal grandmother can become a risk factor. The older the grandmother was when she gave birth to a daughter, the more likely it is that she will give birth to her grandson or granddaughter with Down's disease. The risk rises by 30% with each "missed" year after the age of 30-35.

Another assumption made by scientists after recent studies of the issue suggests that the occurrence of pathology can be influenced by increased solar Activity. So, according to the observations of medical scientists and geneticists, often the conception of such children occurred after a burst of solar activity.

What do psychologists and esotericists say about the reasons for the birth of "solar" children?

Why are children born with Down syndrome? Parapsychologists answer this question by referring to karmic debts. They say that in every family there must appear the person who is destined. And if the parents were really looking forward to the boy, and a girl appeared, then it is likely that she will subsequently have a baby with Down's disease. If, in adulthood, a woman decides to have an abortion, when it turns out that there is a genetic anomaly, then unhealthy karma will pass to other children who will be born in this family.

By the way, by ancient legend, which is confirmed by modern esotericists, "solar" children are the reborn souls of sages and healers, who in past life were proud. For this, they were placed in a shell that causes other people to be wary, but in return they were endowed with a deep understanding of the world.

How is a genetic disease diagnosed?

Available today early diagnosis pathology. On the early dates pregnancy, the method of ultrasound diagnostics and biochemical screening is used. The material for the study is the shell of the embryo or amniotic fluid. Last method is quite risky, there is a possibility of damage to the placenta (with all negative consequences) or spontaneous abortion. That is why the analysis of amniotic fluid and biopsy are carried out exclusively according to indications.

After birth, diagnosing pathology is not difficult. How are babies born with Down syndrome? Such babies weigh less than usual, their eyes are Mongoloid, the bridge of the nose is too flat, and their mouths are almost always open. Often, "sunny" children have a number of concomitant diseases, but not always these are mental disorders.

What do parents do when they find out that a child has a genetic disease?

Down syndrome can be diagnosed in the early stages of pregnancy, when interruption is possible with little or no harm to the health of the expectant mother. This is exactly what women in Russia do most often. Still, raising a “sunny” child requires a lot of effort, peace of mind, time and money. Such babies need much more parental attention and care, so it is impossible to condemn women who have been diagnosed with a genetic abnormality of the fetus.

More than 90% of women terminated a pregnancy when it turned out that the fetus had Down's syndrome. About 84% of newborns with such a genetic disease are left by their parents in maternity hospitals, abandoning them. In most cases, medical personnel only support this.

What about in other countries?

European mothers had an abortion in 93% of cases if doctors diagnosed a genetic pathology (2002 data). Most families (85%) in which a "sunny" baby appears refuse the child. Significantly, in the Scandinavian countries there is not a single case of abandonment of such children, and in the United States more than two hundred and fifty married couples are in line for their adoption.

Who leaves a special child?

Of course, some families leave the child. Famous children of celebrities with Down syndrome. A special baby is being raised by Evelina Bledans, coach of the Spanish football team Vicente del Bosque, Lolita Milyavskaya (at first, doctors diagnosed Down syndrome, but then changed the diagnosis to autism), the daughter of the first Russian President Tatyana Yumasheva.

"Sunny" kids develop more slowly than their peers. They are shorter, lagging behind physical development, often different poor eyesight and hearing, are overweight, often - birth defects hearts. There is an opinion that children with pathology are not capable of learning, but this is not so. If you regularly deal with such a baby and pay attention to him, then he will be able to take care of himself and even perform more complex actions.

How are children with the syndrome treated and adapted to society?

It is impossible to completely cure a genetic anomaly, but regularly medical supervision and systematic classes on special programs will help the "sunny" kid to acquire basic self-care skills and even subsequently get a profession, and then create his own family.

Classes with down children can be carried out both at home and in special rehabilitation centers, kindergartens and schools. It is necessary to instill in the child self-service skills, teach writing, counting, develop memory and perception, socially adapt. Good for sunny kids speech therapy massage, breathing exercises, exercises for the development of motor skills, educational games, physiotherapy, animal therapy. You also need to treat comorbidities.

Are there ways to prevent Down syndrome?

To prevent the risk of developing Down's disease, it is necessary to undergo an examination by medical specialists even during pregnancy planning. It is advisable to do a genetic test to determine if there are disorders in the absorption of folic acid, visit a gastroenterologist if there is a suspicion of insufficient absorption of vitamins and nutrients.

It is worth starting to take vitamin B9 and multivitamins for pregnant women in advance. It is advisable to diversify your diet, saturating it with all the necessary nutrients. At late pregnancy need to go through regular medical examination and take better care of your new condition.

Looking at a precious baby, you may not notice Signs of down syndrome in a newborn. The pediatrician is often the first to suspect a problem. The diagnosis is usually considered when the child has certain physical signs, facial features and possibly some birth defects.

Pathology is diagnosed by finding consecutive signs, physical characteristics that are present together.

This guide will explain what is needed to diagnose Down syndrome in a newborn.

It occurs in people of all races and economic levels, although older women are more likely to have a child with Down syndrome. A mother's age over 35 increases the risk of having a Down baby. This chance gradually increases to 1 in 100 by age 40. At age 45, the incidence becomes about 1 in 30. Maternal age is not associated with translocation.

All 3 types of Down syndrome are a genetic accident, but only 1% of all cases have a hereditary component (passed from parent to child through genes).

Heredity is not a factor in trisomy 21 (non-separation) and mosaicism. However, in one third of cases caused by translocation, there is a hereditary component of about 1%.

In most cases, the birth of a child with Down syndrome is an example of the manifestation of variability. However, in about one third of cases, one parent is a carrier of a translocated chromosome, which will clarify the question of why children with down syndrome are born from healthy parents. Genetic tests can determine the presence of a translocation.

Diagnostics

The signs listed below, when present alone, do not indicate Down Syndrome in the newborn, but if found together, will show this diagnosis.

Babies with Down Syndrome are assessed on eight criteria:

short neck,
the corners of the mouth are turned down,
general hypotension,
palm crease,
dysplastic ear,
epicanthic eyes,
gap between the first and second fingers,
protruding tongue.

Down syndrome occurs in newborns in the first week of life. Points are counted. An infant with a score of 6, 7, or 8 (has 6, 7, or 8 features) is considered clinically proven Down syndrome. Score 0, 1 or 2, the diagnosis refutes. Those with a score of 3-5 are indicated for a cytogenetic blood test for diagnostic purposes.

If the pediatrician is concerned, then another way to determine down syndrome in newborns is to analyze chromosomes for karyotype abnormalities.

A karyotype is a blood test that examines a person's chromosomes, as well as their structure. It takes two to five days to receive the results of a karyotype test.

Down syndrome is a genetic pathology caused by an incorrect set of chromosomes. It does not have preventive measures that guarantee the birth of healthy offspring, but diagnostic methods are known that allow foreseeing the birth of a “special” child, as well as medical and other methods that help him adapt to society and live a normal life.

The anomaly was first described by the British physician D.L. Down, after whom it was later named. This happened in 1866, and a century later, the French scientist J. Lejeune proved the genetic nature of the pathology, explaining it by the appearance of an excess chromosome.

People born with Down syndrome have 47 chromosomes

A genetic deviation is formed at the stage of conception. Normally, during fertilization, the male and female germ cells merge, forming a single structure that receives 46 chromosomes - 23 from each of the parents. But the process of the birth of a new organism sometimes occurs with deviations. Thus, the development of Down's disease contributes to the third chromosome in the 21st pair of elements.

Such a violation leads to the birth of a child with a complex of features, due to which its development will be slower than in healthy children. In the future, this threatens with difficulties with education and training, however, in most cases, "special" people are able to master minimum set skills and abilities that allow you to adapt in society and get a profession.

Causes of appearance: why children are born with Down syndrome

According to medical statistics, the risk of conceiving a child with a genetic pathology increases significantly if the following factors are present:

mother's age over 40 years. This does not mean that women who give birth in young age, are insured against congenital anomalies in a child, but if up to 25 years this happens in one case out of more than one and a half thousand, then after 45 the ratio is 1:20;
father's age over 45 years, due to a decrease in the quality of male germ cells in the second half of life;
consanguinity of future parents. A similar genome increases the risk of developing genetic abnormalities, including the syndrome in question;
the presence of spouses (one or both) of Down syndrome in history.

It is important to know that the appearance of an excess chromosome in a child is not associated with dysfunctions of the internal organs of his parents, the lifestyle of the spouses and their bad habits.

Features of Down syndrome

People with Down's pathology are called "special" or "children of the sun." They have a number of features that affect the appearance, development, and health status.

in appearance

People with Down syndrome have characteristic external signs

An abnormal chromosome set contributes to the appearance of characteristic external signs, which include:

flat face and neck;
shortened skull;
cervical skin fold, noticeable at birth;
special, eye section, reminiscent of the Mongoloid;
increased joint mobility;
curvature of the phalanges of the middle part of the fingers;
open mouth;
dental anomalies;
flat nose bridge;
shortened nose.

Most of the above is due to slow intrauterine development, which is typical for such a pathology. Moreover, each person can manifest them to a greater or lesser extent. In some cases, no more than three characteristic signs can be noticed.

People with Down's disease don't live very long. Another 30 years ago average duration their lives were barely 30 years old, and today most reach the age of 50 years and older. Much depends on the severity of congenital anomalies and the degree of underdevelopment of internal organs, the violation of the functionality of which significantly reduces the viability of the organism as a whole. The possibilities of modern medicine make it possible to successfully correct most violations.

In development

The growth and development of a child with Down syndrome is slow. This applies to both physiology and the psyche. Later than their peers, they begin to talk, crawl, walk and eat food without outside help.

Until recently, it was believed that "special" children are not taught. Fortunately, with the right approach, using special techniques, many of them demonstrate good intellectual abilities, comparable to the average level of development of a healthy person.

People with Down Syndrome are good at playing musical instruments.

Difficulties with learning are often explained by hearing and visual impairment, poor speech development. Nevertheless, people with Down's pathology are able to learn a school course and even graduate from a university. As a rule, they play musical instruments well, perform simple work, and may well lead the life of an ordinary person.

What diseases are most often accompanied

A genetic anomaly caused by the third chromosome in the 21st pair is the cause of poor health, since internal organs fetuses are formed with disorders, and at the time of the birth of a child, many of them are simply underdeveloped. Among the pathologies characteristic of people with Down syndrome, the following are distinguished.

Defects of the heart and blood vessels

They occur in half the cases, and are expressed:

intracardiac septal defects;
improperly formed atrioventricular canal;
stenosis pulmonary artery and other violations.

At timely handling per medical diagnostics and with help they can all be adjusted operational way which will increase the child's chances of a long life.

The development of oncological neoplasms

"Special" children often suffer from the appearance of malignant pathologies, the most common of which is leukemia. In addition to blood problems, they are more likely than others to have liver cancer, tumors of the mammary glands and lungs.

Thyroid diseases

The most common is hypothyroidism. It is diagnosed in almost 30% of "sunny" people. Among the reasons - congenital deficiency endocrine organ and improper functioning of the immune system.

The duration of treatment is determined by the condition of the patient, but sometimes lasts a lifetime

In order to prevent irreversible changes, it is important to undergo annual control diagnostics and follow the appointments of an endocrinologist. Therapy consists in taking medications containing synthetic analogues of thyroid hormones.

Pathologies of the digestive system

We are talking about conditions such as:

atresia duodenum - congenital anomaly, in which the lumen of the corresponding section of the intestine is closed, the proximal edge is expanded to the size of the stomach, and the distally located and collapsed loops are up to 0.5 cm in diameter;
Hirschsprung's disease is an anomaly in the development of the colon, in which severe constipation is tormented. In children with this pathology, atresia of the anus is diagnosed.

These violations gastrointestinal tract corrected surgically.

Reproductive dysfunctions

They are more often observed in males with Down syndrome, who are incapable of procreation, since their spermatozoa are underdeveloped. Women, on the other hand, are not deprived of the possibility of conception and the birth of offspring, however, pregnancy often ends prematurely, including at short terms. If a child is born on time, in half of the cases he is diagnosed with a genetic pathology inherited from the mother.

Neurological disorders

Down's anomaly sufferers are at risk for epilepsy and Alzheimer's disease. In a quarter of them, these disorders are already noticeable in middle age.

visual impairment

"Sunny" people do not see well due to the fact that they suffer:

myopia or strabismus;
farsightedness or astigmatism;
cataract or glaucoma.

Patients themselves, due to their characteristics, do not always report a deterioration in vision, relatives manage to understand this by changing behavior. To correct violations, the ophthalmologist prescribes glasses. It can be difficult for “special” children to get used to wearing them regularly, but when it succeeds, vision becomes noticeably better. AT severe cases it is restored by surgical treatment.

Weak hearing

Insufficient hearing acuity can be both congenital and acquired. It is not difficult to identify violations, it is possible even at home, with a rattle test. However, with age, the situation may worsen, so parents of "sunny" children should not neglect regular diagnostics. Early detection pathology makes it possible to quickly begin treatment and save the baby from absolute deafness.

Difficulties with breathing

Due to the peculiarities of the development of organs oral cavity, people with a genetic abnormality suffer from sleep apnea. When sleep apnea is infrequent and not a cause for concern, no treatment is needed.

AT exceptional cases, for example, if the size of the tongue is too large, they suggest surgical operation. Correction allows not only to relieve breathing problems, but also to facilitate the speech process.

Problems of the musculoskeletal system

They can be expressed in such deviations as:

hip dysplasia;
insufficient number of ribs;
irregular shape of the fingers;
short stature;
curvature chest.

Wherein:

dysplasia is corrected by using orthopedic structures and when it doesn't bring desired results surgery may be recommended.
clinodactyly (curvature of the finger phalanges), which actively develops to puberty, it is possible to correct only surgically, but this is done extremely rarely and only in cases where the problem becomes a cause of serious inconvenience.

This list of pathologies is not exhaustive, others are possible. A lot depends on individual characteristics. In this regard, people with Down's anomaly need special care and care from older family members.

Forms of Down syndrome

There are three forms of Down's disease:

Standard. It is diagnosed more often than others. More than 90% of newborns with a genetic anomaly are born with this particular form.
Translocation. Its peculiarity is that the extra chromosome unit of the 21st pair - in whole or in part - is attached to another. In 75% of cases, this happens by chance, but it can be due to the presence of a similar disorder in the father or mother.
Mosaic. Formed in early embryogenesis, when crushing occurs. At the same time, a certain number of cells have a healthy set of chromosomes, and partially compensate for the disorders that are caused by cells with an abnormal karyotype.

By what signs can pathology be recognized before birth

Today, it is possible to identify developmental disorders caused by an excess of chromosomes even at the stage prenatal development. Developed special methods diagnostics to do so.

During pregnancy

A woman takes a blood test for:

free b-hCG ( chorionic gonadotropin person). The study is scheduled for 8–13 and 15–20 weeks;
AFP (alpha-fetoprotein), which should be taken in the first trimester, is better at 11 weeks.

The results allow us to make an assumption about the possible genetic pathologies fetus, or their absence.

Concerning ultrasonic method, it is also used, but it does not allow to accurately determine Down's syndrome, but only makes it possible to recognize anomalies of intrauterine development caused by this pathology.

Violations are indicated by signs such as:

large collar zone;
underdevelopment of the nasal bone;
small size of the fetus in comparison with those that should be at this time;
reduced size of the upper jaw;
short femurs and humerus;
too large bladder;
increased heart rate;
the presence of a single umbilical artery;
blood flow disorders;
oligohydramnios.

The data obtained are taken into account when making a diagnosis.

Is it possible to "predict" the appearance of a child with the syndrome with the help of tests? If so, what

When the studies mentioned above do not give an unambiguous answer to the question of the development of an abnormal syndrome, invasive methods diagnostics. They are associated with certain risks, since they involve instrumental manipulations in the uterine cavity, but they unambiguously identify or refute Down's pathology in the fetus.

For this purpose, apply:

Whether it is possible to recover? How far has medicine advanced in this direction?

Currently, there is no way to cure Down syndrome, because it cannot be corrected with drugs and operations. congenital pathology caused by an excess number of chromosomes. But medical science does not stand still, research in this area continues.

The undoubted success is that today many health disorders caused by Down syndrome are being corrected. Next in line is the development of drugs that allow expanding the intellectual abilities of "special" people. In the meantime, the easiest way to increase opportunities and improve brain function is physical activity and stimulating environment. Animal experiments have confirmed that this stimulates neurogenesis and promotes the formation of synapses - indicators of brain development.

As for the radical solutions to combat the root cause of Down's syndrome by "turning off" (inactivation) of the extra chromosome, they are. The scientific medical community, led by specialists in genetic engineering, continues to work in this direction. To date, there are technologies that allow you to get rid of an extra chromosome unit in stem cells from fibroblast (connective tissue). Unfortunately, it is not yet possible to edit human DNA in this way, since the technique requires additional research and improvements.

The nuances of raising and caring for a child

Caring for a newborn baby with Down syndrome is distinguished by the specifics of feeding, which is due to:

features of maxillofacial structures;
muscle hypotension;
imperfection of the nervous system.

These babies are fed slowly to avoid aspiration. The use of a horn with mother's milk carried out as standard. This way of feeding a baby is inconvenient for the mother, but it is necessary for its immune support, prevention of various health disorders. That is why "special" children, like ordinary children, are recommended to be fed breast milk as long as possible.

People with Sunny Syndrome are prone to typing excess weight. To avoid this, the child's diet must be balanced, and physical activity must be complete, regardless of age.

Children with Down syndrome are kinder and "sunnier" than ordinary people

Sleep apnea is a separate issue. To prevent respiratory arrest during sleep, doctors advise raising the head of the crib or "recumbent" stroller by up to 10 degrees. In addition, it is recommended to turn the baby on its side when he falls asleep.

periodically show the child to the district pediatrician within the time limits provided for by the dispensary observation plan;
follow all doctor's recommendations;
do not neglect the consultations and appointments of highly specialized specialists - a neurologist, an otorhinolaryngologist, a cardiologist, an immunologist and others.

A "special" child goes through the same stages of development as a normal child, only more slowly. To speed up the process, you need to devote a lot of time to the baby, to deal with him. This will allow little man, as far as possible, catch up with peers in skills such as:

independent walking, dressing, eating;
the ability to speak and understand speech, replenishing vocabulary every day;
communication, the ability to maintain eye contact;
correct behavior, reading, counting and writing.

The sooner regular classes begin, the more active the development of the child will be, the more independent he will be, which means that his future will be happier.

Games and activities develop fine motor skills and thought process

Senior members of the family should be patient and friendly to the "sunny" child, because it is very difficult for a baby to come up with almost everything. He:

remembers only after repeated repetition;
understands well when they speak in a calm, measured tone, simple phrases and simple words;
does not answer immediately, while the pause can last for a long time, because you need to comprehend the question well and think about the answer;
bad contact with strangers so it's hard to find a nanny.

The main goal of raising a child with Down syndrome is to bring him to the maximum level of development available to him. The abilities of "special" children are often underestimated, but meanwhile they:

understand much more than they can say;
perfectly imitate and well adopt skills from friends and other people to whom they feel sympathy;
affectionate and friendly;
happy to take care of the animals.

Many of them, with their life successes and achievements, have surpassed ordinary ones, healthy people.

Video: excerpt from the program "Live healthy"

The prospect of the birth of a "sunny" baby scares parents. Some decide to terminate the pregnancy, others are ready to obediently bow their heads under the blow of fate. Despite all the difficulties of raising a baby with a genetic problem, medical specialists, teachers and parents who raised a "special" child are sure that Down's anomaly should not be considered a sentence. There are many examples that, with the right approach, “children of the sun” can grow up to be talented and successful people.

Down syndrome is the most frequent violation genetic background. In Russia, the concept of Down's disease is usually used to refer to this disorder. Doctors often make reservations about incurability this disease. It is believed that the condition of the child is determined by the presence of a syndrome or the disease itself. Of course, such judgments are complete absurdity and nothing more.

In any cell of the human body, there are forty-six chromosomes responsible for the transmission of hereditary information from parents to their child. Chromosomes are always paired, 50% of which belong to the mother, and the other 50% to the father of the child. People with Down syndrome have one pair with an extra chromosome. In other words, there are forty-seven chromosomes in all cells of the body. Only a qualified geneticist can diagnose the disease using a blood test.

An extra chromosome occurs due to irregularities in the process of formation of the germ cells of a man and a woman. Or this process can occur during the first cell division immediately following the fact of fertilization. To date, there is no consensus among geneticists on the account of what are the reasons for the development of Down syndrome in a child.

Signs of Down syndrome

The presence of an additional chromosome in the cells of the body explains the occurrence of certain features in physiological structure, as a result of which the child will most likely develop more slowly than his peers. Not so long ago, there was a strong opinion that children suffering from Down syndrome suffer, among other things, from a serious mental disability, and it is impossible to teach them anything. Modern research suggests that almost all children with Down syndrome are mentally retarded, however, within their group, the level of intelligence of one child can be very different from the intelligence of another child. In other words, mental retardation can wear all degrees from the most insignificant to the most severe. Meanwhile, the vast majority of down children can teach in walking, reading, speaking, writing, motor skills. That is, even children suffering from Down syndrome can lead a normal life, one that healthy children lead. The main thing is to try to give them everything the necessary conditions for the fastest development.

In Russia, attitudes towards children with Down syndrome are usually negative.

Someone believes that down children are full of aggression, often showing anger and resentment. Moreover, this aggression can even affect relatives, family members with such children. People see the reason for this in the stupidity of down children, since they are not able to distinguish their own people from strangers and strangers. It is believed that even as adults, people with Down syndrome will behave inappropriately. The second opinion is absolutely polar - it is believed that people suffering from Down syndrome are always benevolent and kind, reach out to communicate with others, they love to sing and dance, draw and do manual labor. In other words, they tend to be creative.

In fact, children suffering from Down syndrome are the same people, and their character can be different, like that of each individual person. Each person suffering from Down syndrome is distinguished by his mental abilities, character and even appearance, although it is believed that such people are said to look the same. Development also takes place different speed Some are faster, some are slower. By the way, down children often resemble their parents, that is, on this basis they are no different from ordinary children.

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Because they all have external symptoms and it is impossible not to notice, they are very obvious. Even by these external primary signs, one can immediately identify a sick child or person. This is a flat back of the head, protruding lower jaw, open mouth, underdeveloped ears.

For some, people of a different nationality, such as the Mongols, Japanese, Chinese, it seems to many that they are the same person. Yes, no, even people with an extra chromosome are different in most cases, because they are born from different parents. The answers are written by those who are not closely acquainted with people with an extra chromosome, I know them very well, they are not sick, they are the same as you and me, they have a different eye shape, especially their color, different noses, etc. . It is a pity that, living in the 21st century, we treat others this way, we pay attention to appearance. We think they are stupid, they are not. It’s just that from birth, parents did little to deal with such children, put an end to them.

I had to communicate with such people, they are no worse than healthy people, they think no worse than a healthy person. I know one guy with this diagnosis, goes in for sports, prepares for the Paralympic Games. Last year there was a bike ride to Moscow, among healthy people he was the only such person and proved that people with Down syndrome are no worse.

Children with Down syndrome or, in other words, solar children are similar to each other due to a chromosomal anomaly. She leaves an imprint on appearance, setting a similar set of features on different children. A child with this syndrome is easy to recognize already at birth, moreover, these features are already visible on ultrasound during pregnancy. So it turns out that such a child looks like his parents, but also has an external resemblance to other sunny children.

Indeed, such people seem to have no hallmarks, as in healthy people, they have the same face, and only the color of hair, eyes, height, clothing can distinguish them.

Down syndrome is a disruption in the work of genes, and one chromosome does not have a pair, that is, it does not have genes that would have an alternative, and this chromosome creates the same appearance in patients with Down syndrome. It cannot be said that these people are twins, because if you look at the photo, then they have differences in appearance, but GENERAL FEATURES that give out the disease, everyone has it. And they also develop differently depending on the environment. Someone is very poorly developed, and someone perfectly understands everything and adapts in society no worse than healthy people.

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Down syndrome

Development of children with Down syndrome

Down syndrome is the result of a chromosomal disorder due to the presence of an extra chromosome. This is a fairly common occurrence out of 100,000 newborns, 120-140 children are born with this diagnosis. If a woman aged 35 years and above plans to become a mother, then the likelihood of having a child with this pathology increases many times over. Down syndrome occurs in both boys and girls. The occurrence of the disease is associated with the non-disjunction of chromosome 21, which affects the child's body in different ways in each case.

A change in the chromosome set affects mental development, but besides, it is also a violation of cell metabolism, as a result of which the child's body suffers. There may be disturbances in the psyche, various malformations of organs, disorders protective functions organism. Immunodeficiency develops against the background of congenital inferiority of enzyme systems and a decrease in cellular and humoral immunity. Children with Down syndrome have common features and signs: round flat face, eyes with an oblique cut, deformed, irregularly shaped auricles, big wide tongue, rare hair with a low growth limit on the neck.

A sign of the disease is instability of the joints, low muscle tone, short arms and legs, wide hands and feet, the little fingers of both hands are twisted. One of the main reliable manifestations of Down syndrome is the folds on the palms and two folds on the little finger, instead of three. Often the cardiovascular system in a child with such a diagnosis, it is distinguished by a defect in the interatrial or interventricular septum and in the construction of large blood vessels some, sometimes serious anomalies are noted. In most cases, with surgical intervention the condition of children improves, but there are also incurable defects.

After the birth of a baby with Down syndrome, it is necessary to undergo comprehensive examination body to find out health problems, identify possible heart defects and endocrine system. Such children are inherently retarded in growth and physical development, they usually grow up, reaching a small stature. The formation of the mental sphere depends on the use of specially designed programs. Down syndrome is a set of special features.

With the right correction, you can get rid of some of the signs. These children have a somewhat lagging pace of development in terms of age norms ordinary children.

But many of them can learn to speak, run, dance, sing and do everything that healthy guys can do normally. If you were born "sunny", special child accept it, he is no worse than the rest of the kids, he is just completely different. He needs to pay more attention, constantly visit a pediatrician and undergo examinations.

Your task is to help him become independent as much as possible.

When examining a baby, it is necessary to check the eyesight and hearing. Close contact with mother breast-feeding help the baby to become stronger. Antibodies in mother's milk provide the formation of the child's immunity, serve as a prevention of problems in the work of the gastrointestinal tract. Sensory stimulation of all sense organs should be carried out constantly.

Important tactile sensations, visual perception, development hearing aid, stimulation of taste and smell. Continuous classes with specialists, for example, a speech therapist, will help you pronounce words correctly, massages are needed to develop physical capabilities. Despite the fact that such children have a low level of intelligence, they are very affectionate, patient, and obedient.

The intelligence quotient of most children with Down syndrome is average degree developmental delays, they are trainable, having different mental capacity each with their own personality and talents. In an atmosphere of love and care, babies diagnosed with Down syndrome quickly learn any life skills. Children with Down syndrome, like healthy children, need in large numbers a variety of colorful toys that encourage them to take action.

Communication with other children, brothers and sisters is a lot of fun. Parents should know that the sooner they allow their unusual baby to communicate with peers, the best results can be achieved. Small child, located within four walls, which is treated only as a sick creature, will not fully develop and will grow up as an ignorant and uncomprehending person.

Special programs early help, help in development and allow these people to feel the positive attitude of society towards them. Many people with trisomy-21 lead an independent life, perfectly master simple professions.

For foreigners, we, Russian leaders, look like one person, but if you look closely, we are different. Also, people with an extra chromosome look similar, but it seems so, in fact they are different in appearance. I had to communicate with such people, they are no worse than healthy people, they think no worse than a healthy person. I know one guy with this diagnosis, goes in for sports, prepares for the Paralympic Games. Last year there was a bike ride to Moscow, among healthy people he was the only such person and proved that people with Down syndrome are no worse.

Each gene in our DNA is not only a certain feature of our appearance, but also a psychological characteristic. There are diseases caused by damage to certain genes. In such cases, there will be not only the same behavior, but also the same features of appearance. There is such a science as physiognomy. It is used by law enforcement. All maniacs, serial killers, psychopaths capable of killing a person in the heat of passion have the same facial features. The disadvantages and advantages of each person are written on his face, only we do not know how to read this information from appearance.

Why do children with Down syndrome look the same?

Our Masha is two months old. I don't even know if "only two" or "whole two". Looking back, I realize how much has happened since then. a short time. What a long way we had to go and how unexpected it was for us. From the feeling that the world has collapsed to the realization that life is beautiful, even if it is different. From tears, fear, anger and unwillingness to accept - to tenderness, from which it aches in the chest, and love, from which the head is spinning. From despair and murmuring to gratitude to God for sending trials, He also sends consolations - people, events, joy...

"What are they, downyats?"

I am often asked:

Which Masha? Is she different from other children?

Can you show? I have never seen such little downy...

I understand your curiosity and am not offended at all. I myself have always wondered: what are they, special children? How is life with them? Not to mention that baby with Down syndrome, I also see for the first time in my life.

It's probably too early to draw any conclusions, but I'll try to tell.

When they showed me Masha in the hospital, I shuddered. Even despite the fact that we have four older children, and I know perfectly well that newborns are far from written beauties. And certainly not those rosy-cheeked blue-eyed babies from advertising.

I have never seen such blue children! Yes, most of them are bluish at first, but Masha shimmered in all shades - from sky blue to blue-violet.

I remember that they demanded from me to urgently give birth to the placenta, and instead I moaned:

Why is she so blue? Are they alive?

You haven't seen the blue ones yet, - the doctors justified themselves, - wait, now it will turn pink.

At that moment, I did not know that “blue” was not the worst thing that would now fall on me. But I've written about this before...

I have never seen such small children. Although all of our daughters were miniature at birth. I called my husband and cried into the phone:

She is so small! You have no idea how small she is...

At the same time, Masha had a huge stomach, like a drum, a small head with a large protruding forelock, and thin, like twigs, arms and legs. Dry and flaky.

Then I find out that many people have down such bellies, because the muscles are poorly developed. And that all this is more than fixable. But then I looked at her and thought:

Poor you, poor! My scary one! And now we are all poor!

When I showed the baby to my daughters at home, the youngest, three-year-old Tonya kept following me and repeated: “Why is Masha so funny?” And Sonya looked at her, looked and suddenly asked: “Mom, but will she grow up?”

Now Masha really grew up and got stronger. We are finally breastfeeding and she is rapidly gaining weight.

She has improved a lot. And from that ugly pot-bellied frog, only the crown forelock, which we love so much, remained.

I used to think that people with Down syndrome all looked the same. yes they have common features. But they are all different. First of all, they look like their parents. Masha, like two drops of water, looks like me. And also - on the most ordinary child. She is an ordinary child.

God sees through her eyes

Recently, my husband and I thought: “What kind of Masha?”. And then he uttered a word that very accurately characterizes her. Delicate.

Yes, Mashenka is delicate. She does not scream heart-rendingly, demanding something. She asks modestly. "Meows" and waits for us to approach her. Do not think, she knows how to scream, how. I realized this when she had a stomachache. But otherwise she is a very cultured and patient girl. Believe me, I have something to compare. Apart from the fact that we now have to go around a bunch of doctors to get disability, of all our children, Masha is the least troublesome.

She rarely wakes up at night. And if he wakes up, again, he doesn’t scream, but purrs something softly, as if asking: “Mommy, will you feed me? Are you sleepy? Okay, I'll be patient." And if I don't get up, she does fall asleep. In all the twelve years of my motherhood, I have never slept so well.

She loves music very much, especially Mozart and Rachmaninov's Tenderness. He listens for a long time, frozen.

She has favorite toys and a beloved cat, who sometimes licks her head and scratches her teeth slightly. And she squints happily.

It is already clear that Masha is a very athletic girl. It's funny, but it's true. Other daughters screamed at the whole house when they were massaged and twisted from side to side. This one smiles and is ready to do exercises all day long. And most of all she loves to swim.

How is it developing? Children with Down syndrome develop in the same way as normal children, only more slowly. If my other daughters confidently held their heads for a month, then Masha, at her two, lifts her with difficulty and holds it for about ten seconds at most. Those in a month smiled at me with might and main, Masha began to do it consciously closer to two. At two months, ordinary children grab a rattle and hold it, Masha only made an uncertain movement in the direction of the toy a couple of times. They do everything that ordinary children do. Only a little later. The main thing is to praise. For everything - for raising her head, for examining the toy, for not being capricious. Just for being beautiful, smart and our beloved girl. This is important for her, she feels everything and tries very hard.

She loves being picked up. She is friendly - you can see it on her face. And he loves people very much.

Yes, a person for her is more important than everyone and everything. She needs him and is waiting for him. The elders, of course, needed me, dad, but they were very interested in the world around. Masha is also interested in the world, but she is more interested in faces. She can look at them endlessly - with love, pain, gratitude, joy, support.

What eyes she has, if you could see! My husband and I immediately noticed that none of our daughters had such a meaningful look in infancy - the look of an adult. She seems to see right through you. He understands everything - about us, about himself, about life. And he knows everything that will be ahead. This look often gives me goosebumps. And sometimes it seems that God is looking at me with these beautiful, intelligent, slanting eyes.

Happiness is what today

Masha teaches us a lot. And above all, be truly happy.

I always thought years ahead and was always afraid of something. And what will happen to our children? Will we be able to raise them and raise them well? Will they get sick? Will they get married? Will the husbands be good? What if they're bad? They will hurt our girls! And we will be old and weak. Or even die! What if we die tomorrow? And we can't protect them! What a nightmare! Chief, it's all gone!

I've always been missing something. “Let’s buy a car, and everything will be very good!” I thought. Bought. But still something is missing. And, I realized, at home in the village! Now, if we have a house in the village, then everything will definitely get better nowhere. Bought a house. If only there was more money, and then ... The nasty autumn will end, winter will come and it will be better. To wait for the summer, vacations, holidays... Tomorrow, tomorrow... Tomorrow happiness will come.

What if tomorrow will be bad? Yes, yesterday was better... If I knew...

And so in a vicious circle.

With Masha, we realized that you can only be happy TODAY. Yes, you can and should worry, dream, plan, calculate, do everything in your power, remember what happened, but live and breathe - only today. Do not wait for happiness tomorrow and do not be afraid of tomorrow's troubles, but rejoice in the present and give thanks for what you have.

Everyone is alive - this is happiness. The children came from school, and the husband from work is happiness. We played, talked, watched a movie, went somewhere - this is happiness. Didn't go either. Because we are together - today, now.

You can’t think that everything was fine before Masha, or think about what would have happened if she had been born. an ordinary child. And look into the future with fear and uncertainty. And be afraid of what may not be. Suddenly she won't sit down, won't get up, won't walk, won't speak, won't learn to read... There is today. Today Masha is the way she is. Dot! And today everything is as it should be.

She was accepted by children, friends, acquaintances - this is happiness. People around - happiness. She smiled - this is a victory. Recognized me - happiness! Go on a spree - the minimum plan is fulfilled. I swam, dived - an achievement. The elders made crafts, got good grades - great. We got sick - we will survive, we recovered - thank God. Stayed with my husband together - happiness. No, what a blessing that we are not alone! Live it, breathe it. I have a plan for today. And "tomorrow" will be tomorrow. It will bring its victories and its defeats. It is often easier to reach a happy "tomorrow" with small "today" steps than to imagine huge, seven-league steps and not dare to take them.

I'm not saying that everything works out for us, but now we are learning this.

All children are special

Okay, don't worry! You have four healthy ones!

Thank God, four are normal!

But what four beauties!

We hear these phrases in different variations during these two months all the time. And until recently, we consoled ourselves like that.

In the first time after giving birth, I was generally thrown from one extreme to another. First, I learned everything I could about the development of children with Down syndrome. And I decided that I would die, but "I will make a man out of her."

I talked with many mothers who have such children, I found different books and techniques. And she worked hard with Masha. She developed large motor skills, fine motor skills, rattled rattles, sang songs, read poetry, twisted and twirled, dragged around the apartment, touched various objects with her hands and explained what and where. I selflessly tried to focus her eyes and in the end I myself could not focus on anything.

Older children came from kindergarten and school, told me something, asked me to read, to play. I nodded absently and returned to Masha. I turned to them only when I needed help with the baby.

As a result, Varvara came up to me and asked: “Mom, you won’t love Masha more than us?” I mumbled something and wanted to leave, but then the meaning and horror of what was happening reached me.

Immersed in Problem Machines, I stopped seeing my other children. I just waved my hand at them: "Healthy, they will rake themselves." But they need me no less than the youngest.

I became scared, I felt guilty, and I fell into the other extreme - what those people were talking about: "Thank God - four normal ones." Masha faded into the background. It is necessary to develop those who are healthy, they should live. And Masha... And what about Masha? Still, after all...

Now I spent whole days drawing and making crafts with Dunya and Tonya. I read books to them and taught them how to cook. She did homework with Sonya, talked with Varya about life, took everyone to circles. We played, watched cartoons, films, talked. They did their hair, dressed up. I paid attention to Masha only when she needed to be fed or her diaper changed. Well, or put in a stroller to go for a walk. Fortunately, she is a very patient child and just kept silent.

But at some point I saw that her eyes went out. Then she did not yet have what is called a "social smile." But when she saw me, she became all animated, and her face shone with tenderness. And my eyes were on fire. And now they looked at me sadly and doomed. And it even began to seem to me that there was a “rollback” in her achievements.

I sobbed for two days, not knowing what to do. Why can't I get anything? Why am I doing something to the detriment of others? And then at confession, one priest said to me: “Because you separate them.”

It's true, I shared them. For me they were in different planes - special and ordinary, sick and healthy. I rushed between them and could not unite them into a single world. But these are MY FIVE DAUGHTERS. Each one is special. Not only Masha, but others. Because every child is unique.

Everyone has talents that need to be developed. Their raisins that cannot be hidden, their unique character, their problems that need to be solved. Not only with the elders, but also with Masha. She just has her own way and her own rhythm of life. The main thing is to find this talent. And on her way, within the limits of her abilities, she can achieve no less success than the elders on their own. Their lives are equally valuable.

The achievements of each are equally important - Varya's victory at the Olympics, Sonya's success at the reading competition, Dunya's breakthrough in reading, the fact that Tonya, finally, without tears went to Kindergarten, and the fact that Masha tore off her head and smiled.

They are all girls, and all should be equally beautiful. And, braiding braids for the elders, I always comb Mashin's forelock. And I will dress her in beautiful dresses, just like them.

I am learning to give everyone the same amount of time. I am learning to look at everyone equally. It doesn't always work out, but every day it gets easier.

One extra chromosome in the human genome can lead to the formation of a number of distinctive external features. People with Down syndrome have a flat face and a shortened skull, a special skin fold on the neck and an unusual Mongoloid cut of the eyes, a narrow forehead, mouth, underdeveloped middle phalanges of the fingers, hypermobile joints, anomalies of the teeth, a flat bridge of the nose and a sloping occiput, a short saddle nose, wide lips and a flat tongue with a deep longitudinal furrow, small, irregularly shaped auricles with adherent lobe. The pathognomonic sign of the disease is the presence of Brushfeld spots on the iris of the eyes. In people with Down syndrome, the hair is straight, soft and sparse, the limbs are shortened, the hands and feet are expanded, and there are only two flexion grooves on the curved one. A more thorough examination and examination can reveal strabismus and deformity of the chest in patients.

The characteristic external signs of a person with Down syndrome are due to intrauterine growth retardation, characteristic of this pathology. These distinctive features in the external appearance of sick people are not mandatory: in some they are more pronounced and in full, in others they are barely noticeable.

Mental characteristics of people with Down syndrome

People with Down syndrome have a very wide range of mental abilities, ranging from severe retardation to average intellectual activity. Since patients have problems with vision, hearing and speech, they are difficult to learn. Some of them can do well in schools, higher educational institutions, play music, work and lead a normal life.

Persons with Down syndrome have a small vocabulary, have difficulty building sentences and memorizing new words, do not understand tasks and cannot perform them correctly. Problems with thinking manifest themselves in the inability to imagine abstract situations, which makes the learning process impossible. The behavior of such patients practically does not differ from the behavior of healthy people. A person with Down syndrome is affectionate and calm, often infantile, and sudden mood swings are possible. Most people with the syndrome have a friendly and balanced character, they are very active and hardworking. An experienced doctor can cope with attacks of aggression with the help of special corrective exercises.