The word "down" in modern society is more often used as an insult. In this regard, many mothers wait with bated breath for ultrasound results, fearing alarming symptoms. After all, a child down in the family is a difficult test that requires physical and psychological stress. So what is Down syndrome? What are its signs and symptoms?

What is Down syndrome?

Down syndrome is a genetic pathology, a congenital chromosomal abnormality. It is accompanied by deviations in certain medical indicators and disruption of normal physical development. It is important to note that the word “disease” is not applicable here, since we are talking about a set of characteristic symptoms and certain traits, i.e. about the syndrome.

The very first mention of the syndrome was supposedly noted 1500 years ago. This is exactly the age that is attributed to the remains of a child found in the necropolis of the French city of Chalon-sur-Saône. The burial was no different from ordinary ones, from which we can conclude that people with such deviations were not subject to public pressure.

Down syndrome was first described in 1866 by British physician John Langdon Down. Then the scientist called this phenomenon “Mongolism.” After some time, the pathology was named after the discoverer.

What are the reasons?

The reasons why children with Down syndrome appear only became known in 1959. Then the French scientist Gerard Lejeune proved the genetic cause of this pathology.

It turned out that the real reason syndrome - the appearance of an additional pair of chromosomes. It is formed at the stage of fertilization. Normally, a healthy person has 46 pairs of chromosomes in each cell; in the sex cells (egg and sperm) there are exactly half of them - 23. But during fertilization, the egg and sperm merge, their genetic sets are combined, forming a new cell - a zygote.

Soon the zygote begins to divide. During this process, there comes a point when the number of chromosomes in a cell ready to divide doubles. But they immediately diverge to opposite poles of the cell, after which it splits in half. This is where the error occurs. When the 21st pair of chromosomes diverges, it can “take” another one with it. The zygote continues to divide many times and an embryo is formed. This is how children with Down syndrome appear.

Forms of the syndrome

There are three forms of Down syndrome depending on the characteristics of the genetic mechanisms of their occurrence:

• Trisomy. This is a classic case, its occurrence is 94%. Occurs when a disorder occurs when 21 pairs of chromosomes separate during division.
• Translocation. This type of Down syndrome is less common, in only 5% of cases. In this case, a part of a chromosome or an entire gene is transferred to another location. Genetic material can “jump” from one chromosome to another, or within the same chromosome. The genetic material of the father plays a decisive role in the appearance of such a syndrome.
• Mosaicism. The rarest form of the syndrome occurs in only 1-2% of cases. With this disorder, part of the body cells contains a normal set of chromosomes - 46, and the other part - increased, i.e. 47. Down children with mosaic syndrome may differ little from their peers, but be slightly behind in mental development. This diagnosis is usually difficult to confirm.

Manifestation of the syndrome

The presence of Down syndrome in a child is easy to recognize immediately after birth. You need to pay attention to the following signs:

Most often, newborns with Down syndrome are recognized by these signs. They can be determined not only by a specialist, but also by an ordinary person. The diagnosis is then confirmed by a more detailed examination and a series of tests.

Why is the syndrome dangerous?

If a down is born in the family, you need to treat this with due attention. As a rule, such children, in addition to external signs, develop serious pathologies:

• impaired immunity;
• hearts;
• abnormal development of the chest.

For these reasons, a Down child is more often susceptible to childhood infections and suffers from pulmonary diseases. In addition, his growth is associated with a lag in mental and physical development. Slow formation digestive system may result in decreased enzyme activity and difficulty digesting food. Often a down child needs complex operation on the heart. In addition, he may develop dysfunction of other internal organs.

Sometimes timely measures can help avoid unpleasant consequences. Therefore, timely examinations are important even at the stage of intrauterine development of the unborn child.

At-risk groups

The average incidence of Down syndrome is 1:600 ​​(1 child in 600). However, these figures vary depending on many factors. Down children are often born to women after 35 years of age. The older the woman, the greater the risk of having a child with disabilities. Therefore, it is very important for mothers over 35 years of age to undergo all necessary medical examinations on different stages pregnancy.

However, the birth of children with Down syndrome also occurs in mothers under 25 years of age. It was found that the reasons for this may also be the age of the father, the presence of consanguineous marriages and, oddly enough, the age of the grandmother.

Diagnostics

Today, Down syndrome can be diagnosed already during pregnancy. The so-called "down analysis" includes the whole complex research. All diagnostic methods before birth are called prenatal and are conditionally divided into two groups:

• invasive - involving surgical intervention into the amniotic space;
• non-invasive - without penetration into the body.

The first group of methods includes:

The second group of methods includes safer ones, for example, ultrasound and biochemical studies. Down syndrome is detected by ultrasound starting from the 12th week of pregnancy. Usually such a study is combined with blood tests. If there is a risk that a woman will have a Down child, she needs to undergo a whole range of examinations.

Can it be prevented?

Preventing the birth of a child with Down syndrome can only be done before conception by genetic testing of the mother and father. Special tests will show the degree of risk of chromosomal pathology in the unborn fetus. In this case, many factors are taken into account - the age of the mother, father, grandmother, the presence of marriages with blood relatives, cases of birth of Down children in the family.

Having learned about the problem at an early stage, a woman has the right to independently make a decision about the fate of the fetus. Raising a child with Down syndrome is a very complex and time-consuming process. Such a child will need high-quality medical care throughout his life. However, we should not forget that even children with such disabilities can fully study at school and achieve success in life.

Is there a treatment?

Down syndrome is believed to have no cure because it is a genetic disorder. However, there are ways to reduce its manifestations.

Children with Down syndrome need increased care. Along with highly qualified medical care, they need proper education. They for a long time cannot learn to take care of themselves, so it is necessary to instill in them these skills. In addition, they need permanent classes with a speech therapist and a physiotherapist. There are specially developed rehabilitation programs for such children to help them develop and adapt to society.

Such a modern scientific development can compensate for the lag in the physical development of a child. Therapy can normalize bone growth, brain development, establish adequate nutrition of internal organs, and strengthen the immune system. The introduction of stem cells into the child’s body begins immediately after birth.

There is evidence of the effectiveness of long-term treatment with some drugs. They improve metabolism and have a positive effect on the development of a child with Down syndrome.

Down and society

It is very difficult for children with Down syndrome to adapt to society. But at the same time, they desperately need communication. Down children are very friendly, easy to get along with, and positive, despite mood swings. For these qualities they are often called “sunny children.”

In Russia, the attitude towards children suffering from a chromosomal abnormality is not friendly. may become the subject of ridicule among his peers, which will have a detrimental effect on his psychological development.

People with Down syndrome will experience difficulties throughout their lives. It's not easy for them to get into kindergarten, to school. They have difficulty finding a job. It is not easy for them to start a family, but even if they succeed, problems arise with the possibility of having children. Down men are infertile, and women have an increased risk of having affected offspring.

However, people with Down syndrome can lead full lives. They are capable of learning, despite the fact that this process is much slower for them. Among such people there are many talented actors, for whom the Theater of the Innocent was created in Moscow in 1999.

October is Down Syndrome Awareness Month.

“This month is dedicated to people with Down syndrome. In this way we want to spread the word about our abilities and achievements. This is not about celebrating people with disabilities. It's about celebrating ability." Chris Burke

Especially in honor of this holiday, we have prepared for you a selection of interesting facts about Down syndrome. It's time to break your own stereotypical ideas about this genetic condition.

1. People with Down syndrome have 47 chromosomes instead of the typical 46. How did this happen? There is an extra copy of chromosome 21.

2. Down syndrome is not a disease (you cannot get it). This is a genetic condition caused by having an extra chromosome 21. What else is determined by your genetic makeup? The color of your eyes, hair, or height.

3. People with Down syndrome are not Downs! You should not say “Dima is down.” Down syndrome does not define the face. It's just part of who they are.

4. People do not have “mild” or “severe” degrees of the syndrome. It depends not on the condition, but on the individual. People either have Down syndrome or they don't.

5. Contrary to popular belief, people with Down syndrome are not always happy. They experience the same emotions as the rest of us.

6. Children with Down syndrome go through the same developmental stages as normal children. Difference? Compared to their peers, children with Down syndrome take longer to achieve developmental milestones such as rolling over, sitting, crawling, walking, talking, etc.

7. Naturally, there are some characteristic physical features that identify people with the syndrome. However, these people resemble their family members more than each other.

8. A person's facial features do not determine cognitive abilities. The characteristic physical signs of Down syndrome do not necessarily mean a lower IQ. And the absence of Down syndrome does not mean a high IQ.

9. You can get whatever you want from them! This syndrome does not mean that they are unable to behave well or follow directions. Children with Down syndrome are smart and take a few minutes to process your words. And believe me, they can be manipulated to the best of their abilities.

11. All people with Down syndrome have a delay in the development of cognitive functions. But it is quite moderate and does not affect the abilities and talents that an ordinary person possesses.

12. People with Down syndrome are not the same! We are all human, no matter how many chromosomes we have.

13. People with Down syndrome are really beautiful!

14. Adults with Down syndrome are not “eternal children.”

15. Such people perceive information and learn best in an inclusive learning environment.

16. Many adults with Down syndrome attend college, work, and get married. And they don't live with their parents forever. Many live independently and achieve success.

17. People do not “suffer” from Down syndrome. In a study conducted by Brian Skotko, 99% of adults with Down syndrome reported that they were satisfied with their lives.

18. The same study found that only 5% of parents feel embarrassed about their child with Down syndrome.

19. One of the most significant problems for people with Down syndrome is low muscle tone. It affects speech, gross motor skills, and fine motor skills. However, professional therapy can help combat these deficiencies.

20. The word "retarded" is offensive. People with Down syndrome deserve respect.

21. Children and adults with Down syndrome have a story to tell. They have thoughts, ideas and can support any conversation. Take the time to listen to them and find a new friend with Down syndrome!

22.Down syndrome is the most common genetic disorder. In the United States, one in 691 babies is born with Down syndrome.

Just remember that Down syndrome is not a death sentence. They are people just like us! They should not be feared, avoided or called names.

refers to chromosomal diseases caused by a violation of the number of autosomes (non-sex chromosomes). (Mongolism) is one of the forms of genomic pathology, in which most often the karyotype is represented by 47 chromosomes instead of the normal 46, since the chromosomes of the 21st pair, instead of the normal two, are represented by three copies (trisomy).

The human body is made up of millions of cells, each of which typically contains 46 chromosomes. Chromosomes are arranged in pairs - half from the mother, half from the father. People with Down syndrome have an extra chromosome in the 21st pair, resulting in 47 chromosomes in their cells. In this case, the parents, as a rule, have a normal genotype.

In September 2008, a team of scientists from the USA, Australia, Spain, Switzerland and the UK clarified the mechanism of development of Down syndrome in the embryonic period. As it turned out, the additional chromosome damages the REST gene, which in turn provokes a number of changes in genes that regulate the development of the body at the level of embryonic stem cells. The triggering mechanism (trigger) of these changes is the DYRK1A gene, present on chromosome 21. In addition, the same region of the genome is responsible for the development of Alzheimer's disease, scientists believe.

Down syndrome is called trisomy 21 syndrome, or trisomy 21.

An electron micrograph shows this genetic defect.

Thus, there are three forms of this syndrome: In approximately 95% of cases, a non-hereditary variant of the disease occurs - simple complete trisomy of chromosome 21, caused by chromosome non-disjunction during meiosis. Approximately 1% of patients experience mosaicism (not all cells contain an extra chromosome). In other cases, the syndrome is caused by a sporadic or inherited translocation of chromosome 21. Typically, such translocations result from the fusion of the centromere of chromosome 21 and another acrocentric chromosome. The phenotype of patients is determined by trisomy 21q22. The repeated risk of having a child with Down syndrome in parents with a normal karyotype is about 1% with normal trisomy in the child.

• non-hereditary variant of the disease - 95%
• translocation of chromosome 21 to other chromosomes (usually on 15, less often on 14, even less often on 21, 22 and Y chromosome) - 4% of cases,
• mosaic variant of the syndrome - 1%.

VIDEO: How Down syndrome is diagnosed during pregnancy

Where does the extra chromosome come from?

Down syndrome was named after English doctor John Down, who first described it in 1866. Relationship between origins congenital syndrome and a change in the number of chromosomes was identified only in 1959 by the French geneticist Jerome Lejeune.

Down syndrome is not a rare pathology - on average there is one case in 700 births. This ratio is the same in different countries, climatic zones, social strata. It does not depend on the lifestyle of the parents, skin color, nationality. It is no one's fault for the appearance of an extra chromosome. The extra chromosome appears either as a result of a genetic accident during the formation of an egg or sperm, or during the first cell division that follows fertilization (that is, when the egg and sperm fuse).

The likelihood of having children with Down syndrome increases with the age of the mother (after 35 years) and, to a lesser extent, with the age of the father. The frequency of nondisjunction of the 21st chromosome in spermatogenesis, as in oogenesis, increases with age.

For women under 25 years of age, the probability of having a sick child is 1/1400, up to 30 years old - 1/1000, at 35 years old the risk increases to 1/350, at 42 years old - to 1/60, and at 49 years old - to 1/1/1000. 12.

At the moment, due to prenatal diagnostics, the frequency of births of children with Down syndrome has decreased to 1 in 1100.

The ratio of boys to girls among newborns with Down syndrome is 1:1.

However, because young women in general give birth to many more children, the majority (80%) of all Down syndrome patients are actually born to young women under the age of 30.

And since most patients are born to young mothers, it is very important to understand what factors other than the mother’s age affect the likelihood of having a sick child. Doctors often advise expectant mothers over 35 years of age to resort to amniocentesis, i.e. the procedure for obtaining a sample of amniotic fluid for analysis of the chromosomal composition of cells. This makes it possible to terminate a pregnancy that threatens the birth of a sick child.

Genetic likelihood of having a child with Down syndrome

Recently, Indian scientists discovered that the likelihood of having a child with Down syndrome strongly depends on the age of the maternal grandmother: the older she was when she gave birth to her daughter, the higher the likelihood of having affected grandchildren. This factor may be more significant than the other three previously known (mother's age, father's age and degree of consanguinity of marriage). Malini S. S., Ramachandra N. B. Influence of advanced age of maternal grandmothers on Down syndrome // BMC Medical Genetics. 2006, 7:4.

Word " syndrome ” means a set of characteristics or characteristic features.

In 1866, in his first article, J. Langdon Down described some characteristic features people with Down syndrome. He noted, in particular, the following specific features faces like: flat profile, narrow, widely spaced, slanted eyes.

Down syndrome is usually accompanied by the following: external signs:

1. “flat face” – 90%
2. Mongoloid eye shape - 80%
3. brachycephaly (abnormal shortening of the skull) - 81%
4. flat back of the head - 78%
5. flat bridge of the nose - 52%
6. short nose - 40%
7. skin fold on the neck of newborns - 81%
8. short wide neck – 45%
9. The earlobes are poorly developed and appear to be rooted.
10. epicanthus (vertical skin fold covering the medial canthus) - 80%
11. joint hypermobility - 80%
12. muscle hypotonia - 80%
13. cataracts over the age of 8 years - 66%
14. strabismus = strabismus - 29%
15. age spots along the edge of the iris = Brushfield spots - 19%
16. open mouth (due to low muscle tone and the special structure of the palate) - 65%
17. arched (“Gothic”) palate – 58%
18. grooved tongue - 50%
19. dental anomalies - 65%
20. short limbs - 70%
21. brachymesophalangia (shortening of all fingers due to underdevelopment of the middle phalanges) - 70%
22. clinodactyly of the 5th finger (crooked little finger) - 60%
23. transverse palmar fold(also called “monkey”) - 45%
24. CHD (congenital heart disease) - 40%
25. chest deformity, keeled or funnel-shaped, - 27%
26. episyndrome - 8%
27. Gastrointestinal anomalies - 10-18%
28. stenosis or atresia of the duodenum - 8%
29. congenital leukemia - 8%.

Patients with Down syndrome have short stature, a hoarse voice, and mental retardation (typical IQ between 30 and 50).

Congenital heart defects are characteristic features of Down syndrome. They occur in 40% of patients. Most often these are: atrioventricular communication and ventricular septal defects.

Down syndrome is characterized by a transverse palmar fold (also called the “monkey fold”).

Most men with Down syndrome are infertile, and 50% of women with Down syndrome can have children. 35-50% of children born to mothers with Down syndrome are born with Down syndrome or other disabilities. Interestingly, patients with Down syndrome are less likely to have cancer. Apparently, chromosome 21 contains a “tumor suppressor” gene, and the presence of a third copy of the gene provides additional protection against cancer.

It has been established that if one of the identical twins suffers from Down syndrome, then the other is inevitably sick, and in fraternal twins, as in general among brothers and sisters, the likelihood of such a coincidence is significantly lower. This fact further supports the chromosomal origin of the disease. However, Down syndrome cannot be considered a hereditary disease, since it does not involve the transmission of a defective gene from generation to generation, and the disorder occurs at the level of the reproductive process.

Accurate diagnosis

It is possible to accurately diagnose Down syndrome based on blood test for karyotype .
(The analysis shows the set of chromosomes in each spouse; it is necessary to identify chromosomal diseases. For example, an abnormal human karyotype for Down syndrome, Trisomy on the 21st chromosome: 47, XX, 21+; 47, XY, 21+).

Some human diseases caused by karyotype abnormalities
Karyotypes	Disease	Comment
47,XXY; 48.XXXY;		Polysomy on the X chromosome in men
45X0; 45X0/46XX; 45.X/46.XY; 46.X iso (Xq)		Monosomy on the X chromosome, incl. and mosaicism
47,XXX; 48,XXXX; 49,ХХХХХ	Polysomy on the X chromosome	Most common - trisomy X
47,XX, 21+; 47,ХY, 21+		Trisomy on chromosome 21
47,XX, 18+; 47,ХY, 18+		Trisomy 18
47,XX, 13+; 47,ХY, 13+		Trisomy on chromosome 13
46.XX, 5r-		deletion of the short arm of chromosome 5
46 XX or XY, 15 rub.		Anomaly of chromosome 15

It is impossible to make a diagnosis based solely on external signs.

Test for genetic abnormalities in an unborn child

IN recent years Thanks to the advent of high-resolution ultrasound equipment, great strides have been made in visualizing fetal abnormalities. The use of surface mode three-dimensional ultrasound scanning to study the normal anatomy of the fetus in the second and third trimesters makes it possible to detect a fetus with Down syndrome in the early stages of intrauterine development.

Various images of the fetus's face
for pathology:
a) - Down syndrome
b) - micrognathia
c) - Apert syndrome.

Back in 2009, researchers from the Bridge Fertility Center in London developed a test for almost all known genetic diseases(it is capable of identifying 15 thousand diseases). Its cost is $2400.

With the help of such a universal test, parents can determine the likelihood of a particular genetic disorder in their unborn baby. It will help obtain examination results much faster and more accurately than existing tests. In addition, today only 2% of genetic diseases can be identified using current methods.

Two days after fertilization and before implantation, it is necessary to examine the embryo for hereditary diseases.

Despite the widespread use of prenatal fetal testing technology, more babies are being born with Down syndrome in the UK. For example, in 2006, 749 such babies were born in the country, and in 1989 - 717 children. Since 2000, the number of newborns with Down syndrome has increased by 15%, reports BBC News.

The British Down Syndrome Association surveyed 1,000 parents to find out why they did not terminate their pregnancies after receiving positive test results. A fifth of respondents said they knew someone with Down syndrome and were therefore not afraid to produce one. child. A third of respondents cited religious principles and opposition to abortion. And 30% believe that life has improved for people with Down syndrome. In particular, education has become available to them, and ordinary people have begun to treat such patients with greater understanding.

In developed countries, people with Down syndrome study in specialized and general education schools, and then get a job or continue their education. There are even special dolls produced for children with characteristic external features.

Baby Down

A doll that comes in men's and female version, does nothing special, the only difference from the other dolls is her face, similar to the face of a child with Down syndrome, with her mouth slightly open and her tongue sticking out slightly. The toy is intended for children to look after it and learn what a baby with Down syndrome needs; for this purpose, each doll is accompanied by an explanatory brochure that tells what can be done with the baby to develop his abilities, InoPressa reports.

In our country, the life of people with Down syndrome is still surrounded by a lot of misconceptions and prejudices. They are considered deeply mentally retarded and unteachable, which is why, most often, parents abandon such children in maternity hospitals.

Many people think that people with Down syndrome are incapable of experiencing true affection, that they are aggressive or (according to another version) are always happy with everything. In any case, they are not considered as individuals.
Meanwhile, in all developed countries of the world these stereotypes were refuted 20-30 years ago.

A genetic abnormality in chromosome structure can be expressed in different ways. There are very difficult cases in which a sick person is unable to do almost anything. But a mild form of the disease allows you to maintain a quality lifestyle, as famous people with Down syndrome convince us of, about whom it makes sense to talk in more detail.

Regardless of the causes of the chromosomal abnormality leading to a serious illness - Down syndrome, for parents the birth of a child with such a diagnosis is a real tragedy. It is impossible to be cured; congenital pathology will accompany a person throughout his life. There are only helper methods, thanks to which you can teach your baby to serve himself and develop basic skills. If the form is serious, there is no hope for a more or less quality life. But if the disease manifests itself in mild form, that is, it makes sense to take care of a child from childhood and not give up. Proof that a beloved child with “child of the sun” syndrome has a great future ahead are celebrities with Down syndrome.

Madeleine Stewart - Australian model with Down syndrome

The main action of parents at the birth of a sick child is not to despair. Anyway, new life means happiness. Yes, unlike others, you will have to devote more time to the newborn, but it’s worth remembering golden rule— Down syndrome is not a death sentence.

A baby is a blessing from above, for which you need to live and enjoy this life. This is repeated many times famous people with Down syndrome and their grateful, happy parents. The latter, in turn, reap the fruits of their love and participation in the life of their beloved child and do not for a second regret that their child is a little different from others. Let us remember a few extraordinary personalities who have reached unprecedented heights in this difficult life.

Famous people with Down syndrome: the disease is not a problem for those who are focused

Few people know that there is a day when people with the diagnosis we describe are treated with special respect. March 21 is the Day of People with Down Syndrome, adopted by the international community. Some will say that there are other dates dedicated to other types of diseases. But the Down category includes great people: lawyers, actors, models, athletes, outstanding scientists, philosophers, etc.

Model with Down syndrome - Madeleine from Australia

About a few years ago, a young Australian, Madeline Stewart, made her debut on the catwalk. Her first appearance caused mixed reactions - some were delighted, others were perplexed how the girl managed to serious illness achieve such success. Before the talk had died down, she again conquered the podium outside the borders of her homeland. Mad's career has taken off and there is no reason to stop and complain about life. And so, the highest fashion week in New York was marked not only by a unique show by the world's leading couturiers, but also by the appearance on stage of Mad Stewart. The girl pranced along the catwalk in tight leggings and a light top and amazed the audience with her grace and ease of movements. It is for this reason that she is trusted to parade in a sports type of clothing, directly associated with lightness and ease.

Sergei Makarov: actor with Down syndrome received a prize

Another refutation of misconceptions and monstrous myths about this disease is the vivid and instructive example of Sergei Makarov. From childhood, he was destined for an unenviable fate. It is difficult for Sergei to remember those years when no one wanted to be friends with him or accept him into school. The worst thing is that the doctors refused to treat the child and, according to them, his life would last up to 17 years at most. It would be interesting to look at the faces of these specialists when Makarov became the movie hero of the year and gained true fame as an excellent actor. This event happened already in 2004, when he, with a congenital illness, had long since crossed the threshold of a 17-year-old boy. Unfortunately, domestic cinema rarely attracts talented sunny man, and, apparently, loses a lot.

People with such a disease can manifest themselves vividly in in rare cases, therefore it is necessary, no matter how rude it may sound, to use their individuality and abilities, the extraordinary character of the image.

Russian film actor Sergei Makarov also suffers from Down syndrome

Sunny children of celebrities

A well-known politician and simply a beautiful, smart woman, Irina Khakamada has always been distinguished by her determination. At the age of 42, she again surprised the public by giving birth to a child at such a respected age. At first she bravely endured the ordeal; her daughter Masha underwent treatment for leukemia. When the disease was over, a couple of years later, Irina and her daughter attended the premiere of a foreign film and everyone saw that Mashenka suffered from Down syndrome. In the eyes of people, Irina Khakamada has earned even more respect and honor, because no matter what, she continues to enjoy life with her children and makes every effort to make them feel maternal love and care.

Iya Sergeevna Savvina: the only joy is a sunny son

The famous actress, heroine of film adaptations of great works, Iya Savvina, raised her son with a severe form of Down syndrome all her life. They say that immediately after the birth of a sick baby, her family tried to persuade her to give him up. But the actress flatly refused. Savvina made every effort to ensure that Sergei grew up in an atmosphere of love, harmony, and care. Thanks to the efforts of his mother and grandmother, the boy has extraordinary talents: he plays the piano delightfully and speaks foreign languages. Despite her national fame, she was afraid that her beloved Seryozha would find it difficult to live without her. She dreamed of only one thing - to leave with her son on the same day. Doctors claimed that Seryozha would not live long, but he managed to outlive his mother and cross the 50-year mark, which became amazing fact among specialists.

Important: Sergey is included in the Guinness Book of Records as a person with sun sickness and for a long time life. According to his stepfather, the actress’s son has a light and kind disposition, is always cordial and in a great mood.

Successful people with Down syndrome

It is difficult to gain global recognition, not only for a person with some kind of illness, but also for a completely healthy one. But the already famous actor with a solar diagnosis, Pablo Pineda, succeeded. The Silver Shell prize was awarded to him for best role male plan in the film “Me Too.” For Pablo, cinema is not an end in itself, it’s just that a Spanish director noticed his talents. Until this moment, the actor received several diplomas, including in the field of pedagogy, art, and teaching. Pineda works in the city municipality, and received the important award “Shield of the City” from the hands of the mayor of Malaga.

Pablo Pineda is another successful actor with Down syndrome

Important: Pablo Pineda is the first, and so far, the only person to receive higher education at the university.

Roni - YouTube star

Famous people with Down syndrome also include YouTube star, American composer, and musician Ronald Jenkins. His parents did not begin to panic after the birth of a sick child and invested all their care and love into their beloved child. When Ron was 6 years old, he was given a synthesizer, and, surprisingly, he began to play on his own, without the help of teachers. At first, light, simple melodies were played. The positive thing about Ronald's life is that he always had friends and no one refused to communicate with him. It was with these friends that he began playing in a music group at school, playing without notes. Now Roni is a famous musician; most listeners consider him a modern genius. Since 2003, he has been performing under the name “Whig Cheese” and uploads every new composition online.

Children of the Sun - public attitude

If we continue to list the most famous people with Down syndrome, the list will be long. And what’s nice is that in recent decades, attitudes towards people with this diagnosis have become much better. Much credit for this modern medicine and a caring public, striving not only to alleviate, but also to create all conditions for the full development of people suffering from pathology. After all, the disease can affect anyone, because the slightest pathology in the chromosome structure is enough for this. The disease has no racial or age boundaries, there are even blacks with Down syndrome, whose photos will convince every reader.

Musician Ronald Jenkins is a real Youtube star

It is important to see the baby as a full-fledged child and devote your life to him. After all, doctors still cannot establish exactly what Down syndrome is - famous personalities completely refute the claim that this is a disease, but a truly sunny state.

Symptoms:

• the face and back of the head are unnaturally flat
• special eye shape
• peculiar shape of the skull
• wide skin folds in the upper eyelid area
• unnaturally small ears
• short limbs
• curvature of the little finger
• far back thumb
• deep fold “cutting” the palm across
• slow growth
• weak muscle tone
• poor coordination
• slurred speech
• weak mental abilities

IMPORTANT: Despite many physical characteristics, people with Down syndrome are cheerful, open, naive, cheerful, kind and affectionate. Many of them have a well-developed ear for music and a passion for art.

The face of a person with Down syndrome has four striking features:

• round and flat shape
• slanted eyes with additional folds above the eyelids at the top
• open mouth
• wide and at the same time small nose

How many chromosomes does a Down person have?

Down syndrome is also called trisomy on chromosome 21. This means that downs inherit three instead of two 21 chromosomes. Usually two copies are inherited from the mother and one from the father. Thus, instead of 46 chromosomes, downs have 47 chromosomes, 3 of which are the 21st.

About 3% of downs do not inherit the entire 21st chromosome, but only some genes attached to the 14th chromosome. This phenomenon is called translocations.

Another 3% inherit the genes of chromosome 21 not in every cell, but only in some. This mosaic option. Often such people do not have clear signs of the syndrome, their intellectual and physical capabilities are not very limited. Signs of the mosaic type may be invisible to others.

Why are children born with Down syndrome: reasons

The only thing that increases the risk of having a Down is the age of his biological father and mother. The older the parents, the more likely it is that a child will be born with genetic disorders.

For a woman"critical" age begins with 33-35 years, when the probability of having a Down increases to 1:30. For a man this danger is increasing after 42 years. This is due to the aging of the female body and the deterioration of sperm quality in men.

IMPORTANT: Smoking, alcoholism, drug addiction, and an antisocial lifestyle do not increase the likelihood of being born with Down. Ecology, ambient temperature or weather also do not affect the appearance of this pathology.

Also, the cause of giving birth to a child with Down syndrome is high among mothers with Down syndrome (about 50%). However, in most cases they experience spontaneous miscarriages in the early stages. Down men cannot have children.

Who gives birth to children with Down syndrome?

Children with Down syndrome can be born to completely healthy parents. If healthy parents have already given birth to one down child, then the probability of them having a second down child is approximately 1%.

The older the mother, the greater the likelihood of being born with Down:

• under 25 years old – 1:2000
• 25 years – 1:1250 – 1:1270
• 30 years – 1:1000
• 35 years 1:450
• 40 years – 1:150
• 45 years – 1:30 - 1:50

The likelihood of being born with Down syndrome is increased in those who are carriers of a genetic translocation. If the carrier is the mother, then this probability is 30%, the father is about 5%.

Down syndrome, signs during pregnancy

On early stages It is quite difficult to identify Down syndrome in a fetus. One of alarms is the detection on ultrasound of subcutaneous fluid in the back (collar) part of the neck at 11–13 weeks. However, this method is unreliable - in 20% of cases the result turns out to be false.

The results of a comprehensive examination are the most reliable. If, at the same 11–13 weeks, an ultrasound revealed a pathological thickening in the collar area and, in addition, the results of the blood serum test were positive, the pregnant woman is prescribed a “triple test” at a period of 16–18 weeks.

In cases where all these analyzes and tests indicate the presence of Down syndrome in the fetus, there is no doubt: 99 out of 100 children will be born with an additional 47th chromosome.

IMPORTANT: The fewer tests and analyzes were carried out, the less you can trust the result. Thus, the “triple test”, which determines the level of estriol, hCG and serum alpha-fetoprotein, itself produces an error in 9% of cases.

Signs of Down syndrome in a fetus can be detected by ultrasound

Test, tests for Downs during pregnancy

Tests and analyzes for Down will definitely be needed for those pregnant women whose children were found to have a thickened collar space during an ultrasound scan.

At 16–18 weeks, a blood test for hormones is performed. If this test also confirms that the fetus has Down syndrome, it will be necessary to check the anatomical fluid. This procedure is carried out in a hospital and involves a puncture of the pregnant woman's abdominal cavity and collection of amniotic fluid for analysis.

IMPORTANT: After this test, the risk of miscarriage increases many times over. To do or not to do it is the business of every mother. If amniotic fluid analysis is done late in pregnancy, and it confirms the presence of genetic defects in the fetus, an abortion will not be possible - a premature birth will have to be induced.

Is Down syndrome visible on ultrasound?

If the fetus has abnormalities that indicate the likelihood of developing Down syndrome, the doctor will definitely detect them during an ultrasound. Indicators by which one can judge the possibility of the presence of the syndrome are:

• collar area enlarged
• spina bifida
• nasal bone is too small
• baby's face is flat
• little fingers are small, underdeveloped

IMPORTANT: Ultrasound results alone are not enough to obtain reliable results. Only the results can confirm or refute the presence of Down syndrome in a fetus. additional examinations and analyses.

Ultrasound shows Down syndrome

Down syndrome treatment, can Down syndrome be cured?

Down syndrome itself is not curable, as it is, in fact, a genetic error. However, children with this syndrome are born with weakened immunity and a “set” of congenital concomitant diseases. Therefore, in order to avoid the development of complications, the child must be constantly under the supervision of a number of specialists.

IMPORTANT: Despite the fact that Down syndrome cannot be cured, Sunny children need to be constantly dealt with. Regular developmental activities, proper care and treatment contribute to the socialization of Downs in ordinary society.

Down training should take place in a playful way and be supplemented by animal therapy (communication with animals). Such activities give good positive results and allow children to develop intellectually.

Risk of having a child with Down syndrome

Since Down syndrome is an error, an accident in the transmission of heredity, the risk of being born with Down exists for every healthy person. However, the risk decreases in families where there is already one down child.

Recent research by Indian scientists has led to unexpected results. It turns out that not only the age of the mother and father influence the likelihood of having a Sunny baby, but also the age of the maternal grandmother. The older she was when she gave birth to her daughter, the higher the risk that her grandchildren would be born Down.

Also, the likelihood of being born with a Down is high in cases of close family relationships.

Other factors do not in any way affect the possibility of a genetic malfunction in the fetus.

When is the risk of Down syndrome high according to the first screening?

The first screening (no earlier than 10, but no later than 14 weeks) makes it possible to suspect the presence of a genetic pathology in the fetus at an early stage. An ultrasound is performed and blood is taken to determine the amount of hormones. If both of these studies are positive, the pregnant woman is sent for a consultation with a geneticist, who in most cases prescribes two additional tests: chorionic biopsy and amniocentesis.

These tests make it possible to determine the set of chromosomes in the fetus, but they can provoke a miscarriage.

IMPORTANT: Testing for Down in the early stages has reduced the number of newborns with this genetic anomaly to 1:1000.

Blood test to determine Down syndrome

Is Down syndrome inherited?

The risk of being born with Down syndrome in a family where there are blood relatives with this syndrome depends primarily on its form. So trisomy is not transmitted, while translocation can be inherited.

IMPORTANT: If a mother has Down syndrome, then her child has a 50% risk of being born with a similar genetic disorder.

Down syndrome can be inherited

Can Downs have children?

Men downs in most cases they cannot have children. The exception is cases of mosaic Down syndrome in males - their reproductive capabilities are preserved.

Women downs can give birth to a child, but most often they experience spontaneous abortions in the early stages.

How many years do Downs live?

The average lifespan of people with Down syndrome is 50 years. But if in developed countries with a normal attitude towards people with disabilities and their full socialization this figure is much higher, then in Russia, Ukraine and other countries where this problem is not given due attention, it does not exceed 35.

Abroad, Down children go to regular kindergartens and schools, attend clubs and sports clubs, and receive higher education. As adults, they easily find work that does not require intense mental work.

They act in films and perform on stage, play sports and paint pictures, start families and raise children. In a word, they feel like full-fledged members of society. All this helps to prolong the life of these special people.

What makes Downs similar to each other are some common traits for this genetic disorder: eye shape, nose size, roundness of the face, body structure, as well as a cheerful, friendly disposition.

However, despite the external similarity, each of them is an individual. The character and developmental characteristics of each of these people are individual.

Prevention of Down syndrome

The only effective one preventative method Down syndrome in a child - conception and birth of a baby at a young age. Young parents are the least likely to have a child with genetic disorders.

If the mother and father of the child are over 35 - 40 years old, the woman should visit a geneticist, undergo the necessary examinations and pass all recommended tests.

IMPORTANT: If the fetus is confirmed to have Down syndrome, the woman will be offered an abortion.

Prevention of Down syndrome - conception and birth of a child at a young age

Famous people with Down syndrome

Among people with Down syndrome there are many famous outstanding musicians, actors, artists and athletes. Their records and achievements surprise, delight and inspire hope in desperate relatives of people with genetic disorders.

The whole world knows:

• Pablo Pineda– actor, the first person in the world with Down syndrome who was able to graduate from a higher education institution
• Stephanie Gins- actress who starred in the film "Duo", which subsequently received many American film awards
• Michael Johnson- artist
• Sergey Makarov- Russian actor, plays at the Theater of the Innocent
• Ronald Jenkins– a brilliant composer, has been playing the synthesizer since he was 6 years old
• Max Lewis– English actor
• Karen Gaffney- athlete who set a world record in swimming
• Paula Sazh– lawyer, athlete, actress
• Maria Langovaya– Olympic champion swimmer who won gold at the Special Olympics
• Jamie Brewer- actress who starred in " American history horror"

Marie Longovaya - swimmer with Down syndrome

Children with Down syndrome among famous people

As mentioned above, Down syndrome is nothing more than a genetic error. And if it could have been avoided or prevented, then who, no matter how famous and rich with their capabilities and connections, would have done it.

However, famous families of public people also give birth to downa children:

08/30/1995 Boris Yeltsin grandson Gleb was born with Down syndrome. Now the boy plays chess well, draws and plays sports.

• 1.04. 2012 actress Evelina Bledans gave birth to a down son, Semyon. Now the boy is developing, just like his absolutely healthy peers. The parents learned that the child would be born with disabilities at the 14th week of pregnancy, but there was no question of killing the child. Parents are happy and enjoy raising their sunny boy
• My son's Spanish national team coach football Down syndrome. Alvaro del Bosque has been the team's mascot for 25 years. The players loved him for his friendliness and openness. Every time the guy comes to training with his father and supports his friends
• In 1997 Irina Khakamada gave birth to a special daughter, Maria, who, in addition to Down syndrome, suffered from leukemia. Now the girl is learning to draw, dances and sings well

Happy family Evelina Bledens

Video: Evelina Bledans and her child with Down syndrome

Down syndrome symbol

The official symbol of people with Down syndrome is a blue and yellow ribbon. Those who support Downs or suffer from this syndrome themselves wear a ribbon or symbol badge on their chest.

Down syndrome symbol

March 21 is International Down Syndrome Day

Every year since 2005, on the 21st of the third month, the whole world celebrates International Down Syndrome Day. This date was not chosen by chance - it symbolizes the three twenty-first chromosomes that distinguish Downs from ordinary people.

In Russia, this day was celebrated for the first time only in 2011.

March 21 is Day of People with Down Syndrome

IMPORTANT: Down Day is celebrated with the goal of informing as many people as possible about the features of this gene pathology.

If life has decreed that a child is destined to be born down, parents should not despair, because these children are a real gift. Abroad, refusals of newborns with Down syndrome do not exceed 1% (in Russia - 95% of refusals), and the waiting list for the adoption of sunny children must be filled several years in advance.

It is enough just to change your attitude towards this genetic feature, stretch out your hands towards your own happiness and let sunshine into your life.

Down syndrome is the most common chromosomal pathology. The syndrome is not inherited, it has no cure, and you cannot get it because it is not a disease. Children with Down syndrome have 47 chromosomes, and common man only 46, since a chromosomal breakage occurs, a malfunction occurs, and trisomy of the 21st chromosome appears (in other words, this chromosome has 3 copies).

This syndrome was first described by the American doctor John Down in 1887, after whom it was named this pathology. Currently, fewer children are being born with Down syndrome, thanks to early perinatal diagnosis.

It's hard to name main reason chromosomal damage, since completely healthy young parents may have a sunny child.

Experts in our time can only identify some predisposing factors:

• mother's age 35 years;
• father's age 45 years;
• negative obstetric and gynecological history of the mother (frequent abortions, miscarriages, long-term infertility, etc.);
• the presence of other chromosomal pathologies in their parents or close relatives.

Prenatal diagnosis of Down syndrome

Now the presence of Down syndrome in a child is determined with a huge percentage of the possibility already in utero. And their parents have a choice - to bear this pregnancy or interrupt it early.

A screening examination is carried out for all pregnant women. This is a blood test to determine chromosomal mutation and conducting ultrasound examination. If the results of the screening examination are positive or highly doubtful, invasive methods are performed with the consent of the woman: amniocenesis, cordocentesis, chorionic villus biopsy.

Indicators of Down syndrome in newborns

In addition, with modern examination methods, from time to time children are born with an unidentified diagnosis of Down syndrome. It's there an unpleasant surprise both for their parents and for doctors. It is quite easy to suspect the presence of the syndrome in a newborn - they have very specific phenotypic indicators. All newborn babies with Down syndrome are like twins.

Indicators by which it is possible to determine Down syndrome during the neonatal period:

• The face is flat, flattened, amicable.
• The bridge of the nose is small and flattened (saddle-shaped).
• The back of the head is flat and flattened, the skull is shortened, and the neck is small.
• Skin fold on the neck.
• Crooked ears.
• Hypoplasia of the lower jaw.
• Mongoloid eye shape. There is a fold of skin above the inner corner of the eye.
• Availability bright spots on the iris of the eyes (Brushfield spots).
• The tongue is large, thick, grooved, does not fit in the mouth, the mouth is invariably open.
• The presence of a four-finger horizontal (monkey) fold in the palm.
• Shortening of the fingers and toes.
• Low muscle tone (diffuse muscle hypotonia), the child may be folded in half.
• A hoarse, deep voice is a specific indicator of Down syndrome.
• Quite often, the presence of complex heart defects and other developmental anomalies: syndactyly, sternum deformation, pelvic hypoplasia, intestinal malformations.

According to these phenotypic indicators, it is only possible to suspect the presence of Down syndrome in a child. The final diagnosis is made only after karyotyping is completed, when the child’s blood is taken and the number of chromosomes is counted. You have to wait from two to 20 days for the results of this examination.

Video: Sunny children with Down syndrome are just like everyone else..mp4

Navigation

You'll like this:

Every 600th baby comes into this world with Down syndrome, and this ratio does not depend on the country, the lifestyle of the parents or their income. The cause of the disease is extra chromosome. If ordinary people have 46 chromosomes, then people with Down syndrome have 47. How to live with a sick child? We are talking about this with the mother of four children, director of the public association “Down Syndrome” Olga PROTASEVICH and member of the organization Valentina METELICA.

“When creating our organization, we were guided by the fact that children with Down syndrome also need respect and love,” says Olga Protasevich. “They gain the human dignity that we give them.” This is a continuous path of overcoming oneself, one’s selfishness, pride... We want to highlight the achievements of our children, talk about their talents and abilities, and share own discoveries that we have made for ourselves thanks to our children.

No one is safe

All my interlocutors agree that in recent years the attitude towards children with Down syndrome has changed significantly:

“20 years ago I was afraid to go out with Sasha,” says the mother of an adult son with Down syndrome, Valentina Metelitsa. – Passers-by pointed at the child, looked at him, pestered him with annoying questions... Children with Down syndrome were considered severely mentally retarded and unteachable. Now they are taken to kindergartens and sanatoriums, but in 1985 I had to leave my main job and get a job in a kindergarten so that my son could be accepted there.

– Previously, it was beneficial for geneticists to attribute the birth of a child with a problem to an asocial, immoral image of the mother, to harmful conditions production,” notes Olga Protasevich. – Even with the modern level of development of medicine, with all the diagnostic capabilities, no one is immune from the appearance of a child with Down syndrome in the family. A lot of such children are born to young mothers.

Chronic Kindness Syndrome

The Law “On the Education of Persons with Disabilities of Psychophysical Development” guarantees equal rights to education for all children, regardless of the severity of their psychophysical impairment. In fact, not every general education school principal agrees to admit a child with Down syndrome to regular class. In this sense, the example of one of the capital’s families is indicative. When it was time for a boy with Down syndrome to go to first grade, none of the nearby schools (the family lives in the Central District of Minsk) accepted him. Only the director of one of the schools in the Frunzensky district met halfway. All the time that the boy was in school, his mother sat with him at the same desk, defending his interests in front of teachers and children.

Currently, there are 2 children with Down syndrome studying in junior high schools in Minsk under the general curriculum. The rest, as a rule, are home-schooled or study in a boarding school. There are also correctional centers, but the number of places there is limited, and you often have to get there from the other end of the city.

– I am against children with Down syndrome studying in regular schools! – says Valentina Metelitsa. “In a boarding school they are all the same, but in a public school such a child is doomed to become an object of ridicule and bullying. The first to be injured are the parents, who are psychologically wounded by such treatment. Children with Down syndrome do not know what resentment is. It’s not for nothing that their syndrome is called chronic kindness syndrome.

Tanya dreams of getting married, Sasha dreams of going to work by taxi

Such children are poorly adapted to independent life. They are trusting, simple-minded, and literally do not know the value of money. A few get married, but one way or another they need constant supervision.

“In our theater there is a 25-year-old girl whose mother really wants her to get married,” says Olga Protasevich. – And, I must say, she has some opportunities for this. Tanya has been living alone in the village for six months now: she runs the household, lights the stove, cooks, cleans, and buys groceries at the grocery store. In addition, she is engaged in home work: for 10 years she has been packing disposable cutlery into bags for airline passengers.

In Western countries, people with Down syndrome are successfully employed in service sector enterprises. They can often be found in bakeries, supermarkets, hotels, restaurants, and greenhouses. Such workers, as a rule, are great cleaners and approach their duties very responsibly and carefully.

In Belarus, there is nowhere for people with Down syndrome to find employment. The disability group that they are assigned upon reaching 18 years of age is almost always “non-working.” Most people with Down syndrome suffer from congenital heart defects and have problems with the gastrointestinal tract, vision, and speech. The disability pension is 300 thousand rubles a month and barely covers the cost of medicine.

More than 10 years ago, with the assistance of German sponsors, the Joy of All Who Sorrow Church built workshops for people with disabilities. Valentina Metelitsa’s son Sasha has been working there for many years now.

– I remember in 1998 Sasha brought me my first salary – 650 rubles. How proud he was! – Valentina smiles. – In the morning I hear him talking to someone on the phone: calling a taxi! And so important he says to me: “I’m tired, mom, of driving public transport, I’ll take a taxi!”

Parents need a guarantee

How to test a fetus for Down syndrome?

The probability of identifying Down syndrome in Belarus is 88 percent. The effectiveness of ultrasound largely depends on the resolution of the ultrasound machine and the experience of the specialist.

Compared to the early 1990s, the number of newborns with this disease has decreased by 2 times. The country has a screening system: every woman undergoes an ultrasound scan at least three times during pregnancy to detect fetal pathologies.

Currently, there are 5 regional medical genetic centers and the Republican Scientific and Practical Center “Mother and Child” in Belarus, where more than 60 thousand future parents are consulted every year. In addition, diagnostics chromosomal disorders carried out in some private medical centers.

Only invasive (with penetration into the mother’s body) research methods can give an absolutely accurate answer about the health of the fetus. This diagnosis is carried out in Republican Center reproductive health"Mother and Child". Procedures where certain fetal cells are taken under ultrasound control (amniotic fluid, chorionic villi or placenta, blood from the umbilical cord) are associated with a risk of miscarriage (2-3 percent of cases), so they are offered to pregnant women only from the group high risk who have a greater than 1 in 350 chance of having a child with Down syndrome.

Browser Help

In the fall of 2008, under the auspices of the organization, the country's first theater, “Sunny Children,” began operating, where all roles in the performances are performed by people with Down syndrome.
Special children of special parents
Irina Khakamada gave birth to her youngest daughter Masha at the age of 42. Knowing how many trials children with Down syndrome and their parents have to go through, Khakamada created the Social Solidarity Fund and defends the interests of disabled people of all ages.

A child with Down syndrome is also growing up in the family of the first President of Russia, Boris Yeltsin. The boy was born in the second marriage of his daughter Tatyana with Alexey Dyachenko. In her blog, Tatyana talks in detail about her sick son. The boy studies in a special school, plays swimming and chess.

Lolita Milyavskaya gave birth to a daughter at 35 years old. The baby weighed less than one and a half kilograms, she was nursed for a long time in a pressure chamber, and until the age of 4 she could not speak. Now Eva, according to the singer, recites poetry with expression and sings jazz improvisations.
People with Down syndrome who have become famous throughout the world
Pascal Duquesne, actor. In 1997 he received the main prize for performing the best male role at the Cannes Film Festival.

Pablo Pineda. Became the first person with Down syndrome to receive higher education. In 2009, the feature film “Me Too” was released in Spain, in which Pablo played. At the San Sebastiano International Festival he received a prize for best role.

Andrey Vostrikov. A resident of Voronezh, who became the absolute European champion in artistic gymnastics.

American Sajit Desai. Plays 6 instruments!

A small educational program

Myth #1: This will never happen to my family.

Myth #3: Down syndrome is a disease and needs to be treated.

“Don’t you regret that you took on such... such?..” - I’m mentally trying to find the right words. But they understand me without words, they are used to understanding me. “No, no, these are our children, our beloved ones. “Heavy”, of course, as doctors say. But they can do everything...” Untrainable, unpromising, “plants” - all kinds of words parents have never heard of “down” . But they didn't believe it. And they made a discovery that has been known in the West for a long time. The secret of Down syndrome is that children can be taught anything, but they need to be taught. Unlike other children who are capable of self-learning, “downyats” open up only in response to keen interest and care. And for this you need a family, you need loving people around...

Geneticist Lyudmila Zhuchenko, who today heads the department of diagnostics, monitoring and registry birth defects development in children of the Moscow region at MONIIAG (Moscow Regional Research Institute of Obstetrics and Gynecology), I learned that people with Down syndrome are not at all hopeless - about twelve years ago. Before that, having worked as a midwife in a maternity hospital, she, like everyone else, brought up on dogmatic textbooks, was sure that “downyata” was a death sentence.

Having already started working at MONIIAG, Lyudmila Aleksandrovna encountered families in which there were adults and little “down kids”. “I was very interested: what are they like as adults?” And she began to question the families in detail and detail. Imagine her surprise when she learned that unpromising children, who had been practically scrapped for years, were quite adequate in everyday life, not only walking and talking, but even able to help their elderly parents. “And then we, geneticists, came to the conclusion that for the full rehabilitation and adaptation of people with Down syndrome, the main condition is to live in a family,” says Zhuchenko.

But we didn’t know - and we swam

There is no need to treat this situation as an unbearable grief.

Three months ago it was officially registered in Baranavichy city ​​public association « You are not alone", of which she became the chairman Irina Bogriy(and unofficially it has existed for 6 years). It includes 15 families in which children and young people with Down syndrome live, aged from 4 to 26 years (and, by the way, in most of these families there are no fathers).

Why did we create this organization? - Irina asks again. - To change something. We want to show such mothers that they are not alone, that there are other people in the same situation - and that they should not treat it as an unbearable grief. We're not saying it will be easy. How easy is it when a healthy child needs to be told 5 times to remember something, but our children need to be told it 45 times! A healthy child begins to walk at the age of one year, and my Nikita, for example, walked at 2.5 years old, but began to speak only at 3. But what a joy it is: my son walked, he started talking! It's much bigger because we wait longer for it.

I remember myself when my son was just born. I didn't know what to do, where to go. And our specialists they can talk to you so much that you don’t want to live. I don’t know what textbooks our doctors study from. When I asked at the maternity hospital what my child would be like, they answered: well, when he turns 20, you will walk down the street with him, and he will suddenly spit at someone... But he doesn’t do that!

My Nikita remembers any poem easily and quickly. He studies in the special class of the 13th secondary school in Baranovichi, and studies well. Of course, the program for such children is simplified. But instead of the 4th grade, he is studying according to the 6th grade program... Nikita is witty. He loves Soviet comedies and very appropriately quotes phrases from them. Sometimes he says such philosophical things...

Breeze

And it’s really a shame: the most best doctors and the equipment is at the service of the rich, but even they have punctures...But age, nothing can be done. But Alena Apina sent her little girl to a boarding school, they say.

Kuzkina's Mother

Well, what is considered a “puncture”... In my opinion, one of the most remarkable differences between “well-fed” societies and ours is that sick children are considered not “punctures”, but people. And they care, raise and love... However, sick adults too.

Kuzka’s mother, to be honest, do you yourself believe in what you wrote?

Why are you surprised that someone thinks so? I'm like that too, for example. Children with Down syndrome are the same people who have the right to normal life. In the West there is a normal life and leading.

You mean as long as the parents pay their maintenance?

No, here, rather, parents are paid to take care of their sick children, in Sweden, at least in Denmark too, and, most likely, the same in Finland and Norway. If they don’t want it themselves, they provide special assistants. At the age of 18, Down children receive an apartment in which they live either independently or together with their friends. It’s not the parents who pay for this, again. They are given jobs based on their abilities. This, by the way, is also about the love of society - if this society gives such people the opportunity to feel like people, and not something unknown, then, in my opinion, this is how “love of society” is expressed.

Signs and symptoms of Down syndrome in a newborn

90% of newborns with Down syndrome have characteristic external signs. Such children are similar to each other, but have absolutely no resemblance to their parents. Features of appearance are inherent in the extra chromosome.

• The child's height and weight are slightly below average. Children with Down syndrome are born less than 45-50 cm in height and weighing up to 3 kg.
• Short head– brachycephaly 81%. The section of the skull where the brain is located has a small longitudinal but large transverse diameter.
• Presence of a third fontanel at the junction of the skull bones. With pathology, the fontanelles are large and close late, which is associated with delayed bone growth.
• Flatten back of the head 78%.
• Round flattened face in 90% of newborns
• Mongoloid eye shape 80%. The outer corners of the eyes are located higher than the inner ones - slanted eyes. The third eyelid or epicanthus is a fold in the inner corner of the eye. Strabismus, caused by weakness of the eye muscles, is common.


• Pigment spots along the edge of the iris (Brushfield spots). The spots are more noticeable in people with blue or gray eyes. They look like white spots that are located in the center or along the outer edge of the iris. The spots reach a size of 1.5 mm and are located at an equal distance from each other. May resemble beads. In brown-eyed people, the spots are golden in color and do not stand out against the background of the iris.
• Short wide neck. There is a deep fold of skin on it.
• Large tongue. The edge of the tongue is constantly sticking out; it does not fit in the mouth65%.
• Short nose 40%. The bridge of the nose is wide and depressed. The bridge of the nose is also wide
• Small jaws arched “Gothic” sky. It is taller and narrower than usual. 58%
• Open mouth. This sign is associated with decreased tone of the muscles that close the jaw and the special structure of the palate 65%


• The ears are small, deformed, sometimes asymmetrical, soft and flabby. The helix is ​​flattened and the antihelix protrudes. The upper edge of the auricle hangs down. The lobes are short, attached to the neck. The ear passages are narrow. Sulfur and epithelial scales accumulate in them.


• Limbs are shortened(compared to the length of the body) in 70% of newborns. Due to muscle weakness, they hang like rags.
• Palms wide and short due to shortening of the middle phalanges of the fingers.
• The little finger is crooked. It's bent to the side ring finger in 60%.


• Sandal-shaped gap. The big toe is located at a distance from the other toes. A fold forms on the foot underneath it.
• There is one transverse fold in the palm, formed as a result of the fusion of the lines of the heart and mind.45%

In 10% of newborns with pathology, these signs may be mild. At the same time, such appearance features may be present in healthy children. Therefore, a diagnosis of Down syndrome cannot be made based on one or more of the listed symptoms. The presence of chromosomal pathology can be confirmed only after genetic analysis.

Signs and symptoms of Down syndrome in children and adults

Children and adults with Down syndrome retain the characteristic external signs noticeable in newborns. But with age, other symptoms appear or become apparent.

• Short stature 90% have People with Down syndrome are 20 cm below average. Their height rarely exceeds 150-160 cm, which is associated with congenital features tubular bones and insufficient production of growth hormone. At the same time, children and adults tend to be overweight.
• Abnormally shortened skull. The head looks short and wide.
• Round face, appears flat due to poor development of the facial bones. There is a blush on the cheeks. Facial expressions are poorly expressed.
• Mongoloid eyes. The eyes are slanted. At the inner corner of the eye there is a fold of skin that runs from the upper eyelid to the lower eyelid.
• Short wide neck. In children, two folds of loose skin are visible on either side of the spine. With age, they become less noticeable.
• Forehead low, flat and wrinkled. Low hairline without receding hairline.
• Short nose with underdeveloped bones. The base of the nose and nostrils are wide. Often the nasal septum is located asymmetrically.
• The upper jaw is narrow and underdeveloped. Lower jaw protrudes forward. Mouth half open. The lips are thick and poorly defined. The lower lip droops, and vertical cracks often appear on it, associated with dry mucous membranes.
• Anomalies of dental development 65%. Teeth are crooked, narrow, pointed or blunt. There are wide gaps between the teeth. Their eruption in children is significantly delayed. The order of appearance of teeth is disrupted. Enamel defects lead to extensive caries. Because of small size jaw molars can interfere with each other and grow crookedly.


• Large grooved tongue with characteristic longitudinal cracks - “geographical tongue” 50%. It is large and therefore fits in the mouth only in a “folded” form, making it difficult to speak and chew. In some cases surgically cut off the sides of the tongue.


• Short limbs, brushes with short fingers and a “monkey fold”. The little finger is curved inward. To a greater or lesser extent, 100% of children and adults with Down syndrome have these signs.
• Chest deformity 27%. A depression is formed in the lower part of the sternum - a funnel-shaped chest. Pectus carinatum is a deformity in which the sternum protrudes forward. Heart defects are sometimes accompanied by enlargement of the heart muscle. In this case, a protrusion appears on one side of the chest - a cardiac hump.
• Weakened muscle tone – muscle hypotonia 80%. Muscle weakness leads to delayed physical development in the first months. Children later roll over, sit up, and begin to walk.
• Sagging belly– the result of weakness of the abdominal muscles. The navel is located low, often found umbilical hernias and hernias of the white line of the abdomen caused by weakness connective tissue and muscles.
• Joint hypermobility. A weak articular apparatus allows the joints to be extended more than 180 degrees. The symptom is associated with weakness of collagen fibers, which are responsible for the strength of ligaments. This explains the frequent dislocations and subluxations that occur in 80% of people with the syndrome.
• Tendency to flat feet associated with weakness of the ligaments that support the arch of the foot. At the same time, the foot size is very small. In adults, it corresponds to the leg of a 10-year-old child.
• Delayed development of the external genitalia in children. IN adolescence they reach normal sizes. Men subsequently often suffer from infertility. Women have a 50% risk of having a child with Down syndrome.
• Skin is dry, thin. She is prone to flaking and eczema. On the extremities, due to insufficient blood circulation, the skin looks marbled - pale with veins.
• Speech defects- these are the consequences of the structural features of the pharynx and mental retardation. Speech is slow and slurred. The voice is hoarse, which is explained by frequent colds and a defect in the connective tissue of which they are composed vocal cords. These deviations are observed in 100%.
• Reduced resistance to infectious diseases . IN childhood often suffer from bronchitis and pneumonia, which is associated with weak immunity.

How does a child with Down syndrome develop?

Several decades ago, it was believed that children with Down syndrome were a burden for parents and a burden for society. They were isolated in special boarding schools, where the children's development practically stopped. Today the situation is beginning to change. If parents are involved in the development of the child from the first months using special educational programs, then this allows little man turn into a full-fledged person: live independently, get a profession, start a family.

The state and public organizations provide comprehensive assistance to such families:

• Local pediatrician. This person is responsible for your baby's health after leaving the maternity hospital. The doctor will tell you how to care for your baby and give you a referral for examination. Be sure to consult your doctors and get tested necessary tests. This will help to identify in a timely manner accompanying pathologies and start treatment in a timely manner. After all various diseases may aggravate mental and physical development delays.
• Neurologist. This specialist monitors the development nervous system and will tell you how to help your child. He will prescribe medications, massages, exercise therapy and physiotherapy methods to stimulate proper development.
• Oculist will help to promptly identify vision problems that occur in 60% of children with Down syndrome. IN early age they cannot be determined on your own, so do not skip a visit to this specialist.
• ENT checks the child's hearing. These disorders can make speech and pronunciation problems worse. The first sign of hearing problems is that the child does not flinch from a sharp loud sound. The doctor will conduct an audiometric examination and determine whether your hearing is impaired. The adenoids may need to be removed. This operation makes it easier to breathe through the nose and keep the mouth closed.
• Endocrinologist reveals disturbances in the functioning of the endocrine glands, especially the thyroid. Contact him if your child begins to get better, lethargy, drowsiness increase, feet and palms are cold, temperature is below 36.5, constipation becomes more frequent.
• Speech therapist. Classes with a speech therapist will help minimize problems with pronunciation and speech.
• Psychologist. Helps parents accept the situation and love their baby. In the future, weekly sessions with a psychologist will help the child develop properly and improve his skills. The specialist will tell you which methods and programs are more effective and suitable for your child.
• Rehabilitation center for people with Down syndrome, Down Syndrome Association. Public organizations provide comprehensive assistance to families: pedagogical, psychological, medical and help resolve social and legal issues. For children under one year of age, home visits are provided by specialists. Then you and your child will be able to attend group classes and individual consultations. In the future, associations help adults with Down syndrome adapt to society.

But still, when a child is born with a genetic pathology, the main burden falls on the shoulders of the parents. In order for a child with Down syndrome to become a member of society, you need to make enormous efforts. Constantly during the game you must develop the child’s physical and mental abilities. Required knowledge you can learn from special literature.

1. Early Educational Assistance Program"Little steps", which is recommended Russian Ministry education. Australian authors Petersi M and Trilor R specifically developed it for children with developmental disabilities. The program describes step-by-step and in detail exercises that relate to all aspects of development.
2. Montessori system The system of early child development developed by Maria Montessori provides excellent results for the development of children with developmental delays. Thanks to individual approach it allows children, in some cases, to even outperform their peers with normal development.

Parents need to be patient. Your baby needs more exercise than other children. He has his own pace. Be calm, persistent and friendly. And one more thing prerequisite successful development - know the baby’s strengths and focus on them in development. This will help the child believe in his success and feel happy.

Strengths of children with Down syndrome

• good visual perception and attention to detail. From the first days, show your child cards with objects and numbers and name them. Thus, learn 2-3 new concepts per day. In the future, studies will also be based on visual aids, signs, gestures.
• They learn to read quite quickly. They can learn the text and use it.
• Ability to learn from the example of adults and peers, based on observation;
• Artistic talents. Children love to dance, sing, write poetry, and perform on stage. Therefore, art therapy is widely used for development: drawing, wood painting, modeling.
• Sports achievements. Athletes with the syndrome show excellent results at the Special Olympics. They are successful in the following sports: swimming, gymnastics, running.
• Empathy– understanding the feelings of other people, willingness to provide emotional support. Children perfectly capture the mood and emotions of those around them and subtly sense falsehood.
• Good computer skills. Computer skills can become the basis of a future profession.

The footage of the film that we showed you speaks for itself. I'll just add -
what you saw is Moscow. Therefore, about How in such
children live in institutions, I won’t say anything.

About What then happens to some of the parents, two
I'll say the words. Several years ago, in one of the families near Moscow, I was born
girl with Down syndrome. Mom and Dad were 20 years old, both graduated
medical school (when there are doctors in the family - this is always a difficult case, and if besides
without higher education, there are no options at all, because they are talking to themselves
We are sure that in medicine there are no mysteries or secrets for them). From a girl
refused, told all relatives and friends (as is usual in such
cases) that she died. Everyone around was very sorry for the parents who had this
such a misfortune, they also experienced it, but in the end my mother herself believed that
her child died. More than 10 years have passed since then, my mother is in deep
depression, she is simply sick - she is experiencing the “death of her daughter.”

I could go on and on. You can't even imagine
what kind of symbiosis of myths occurs sometimes.

Only invasive (with penetration into the mother’s body) research methods can give an absolutely accurate answer about the health of the fetus. Such diagnostics are carried out at the Republican Center for Reproductive Health “Mother and Child”. Procedures in which certain fetal cells are taken under ultrasound control (amniotic fluid, chorionic or placental villi, blood from the umbilical cord) are associated with a risk of miscarriage (2-3 percent of cases), so they are offered only to pregnant women from a high-risk group who are likely to more than 1 in 350 births of a child with Down syndrome.

Browser Help

The Down Syndrome Association was created in 2007 and covers over 100 families from Minsk and various regions of Belarus.

Myth No. 6: There are many more people with Down syndrome in Russia
less than abroad.
About two and a half thousand are born in our country every year.
children with Down syndrome. Official figures, how many are among today
There are no people living with this syndrome.
"We just don't see them. 85% of these children remain in
children's homes. The majority, according to Western statistics, are not
lives there for up to a year. Those who survived end up in houses
elderly or psychiatric clinics."

People with Down syndrome are some part of 13 million
Russian disabled people... "If the state doesn’t even know how many
there are such people, how does he know about their problems and
difficulties".

IN modern Russia early intervention services for children with Down syndrome
are at the initial stage of development, and the law “On special
education" has not yet been adopted. Families in which children with disabilities are growing up
Down syndrome, suffer from a lack of pedagogical and social
support, and most of all from the negative attitude of society.
In the West, people with Down syndrome are full members
society.

• Downside Up is the most famous.
• Golden City - Charitable educational foundation for promoting habilitation of children with special needs

You have java script disabled in your browser, you need to enable it or you will not be able to get all the information on the article “Down Syndrome and Symptoms”.

Treatment options

Although it is impossible to cure Down syndrome, with the help of various therapies and a special approach to education, it is possible to teach a child self-care: he can learn to eat, dress, perform independently. hygiene procedures, dress. You can also teach him to communicate to a certain extent with others. Here are the methods involved in the treatment and rehabilitation of children with Down syndrome:

• Massage. The muscles of newborns and infants with this disease are often underdeveloped, which is why they begin to hold their heads, sit and walk much later than other children. Massage combined with gymnastics will help speedy recovery muscle tone.
• Visiting a nutritionist. Often people with Down syndrome have problems with excess weight. As a result of obesity, very unpleasant symptoms may occur, indicating disorders, including in terms of cardiovascular system Therefore, it is important to monitor the child’s diet. It is especially important to adhere to such dietary standards for those who have problems with the heart or digestive tract.
• Speech therapist consultations. As already mentioned, the syndrome is often accompanied by disturbances in speech development. will help the child express his thoughts more clearly and articulately. The pronunciation of words will improve and your vocabulary will be enriched.
• Water procedures, treatment with hydromassage. Often water gymnastics, and even just swimming, develops a child’s motor skills, makes him more dexterous, and strengthens his muscles. IN lately Dolphin therapy is becoming increasingly popular: during it, the baby swims next to dolphins and communicates with them. There are currently no statistics describing such treatment, but communication with animals and swimming will be beneficial in any case.
• Classes with teachers according to special programs. The fact that children with Down syndrome develop more slowly than their peers does not mean that they are not learning at all. Basic skills, knowledge and abilities can be taught to them; the only question here is the qualifications of the teacher.

It is important to note that most often it is not the manifestations of the syndrome itself that cause the most problems, but the diseases that accompany it. And these diseases can be quite serious: heart defects, visual and hearing impairments. Their treatment may require, among other things, surgical intervention.

What are the prognosis for such a disease?

With proper care, the prognosis for people with Down syndrome is quite positive: most of them live 50–60 years, and 15% even live more than 65 years. It must be said that in recent decades these indicators have improved significantly: in the 80s, the average life expectancy of such people was no more than 25 years. Now the situation is much more encouraging, but everything becomes more difficult if other diseases appear against the background of Down syndrome. Often the diseases accompanying the syndrome are severe, but there is treatment for them, especially if there is access to good specialists and modern equipment. It should also be noted that throughout their lives, people with Down syndrome will need to undergo gastrointestinal and cardiovascular examinations from time to time.

The main thing is that you should advise relatives so special person- be patient. In society, people with Down syndrome and their relatives often encounter misunderstanding, disapproval and wariness. Long-term treatment and numerous procedures aimed at rehabilitation require considerable effort, time, and often finances.

Unfortunately, the likelihood that a person with Down syndrome will be able to live the life of an ordinary person is not high. However, his life can be improved. Both the treatment selected by qualified specialists and the support of relatives play a huge role in this. People with Down syndrome feel other people's emotions very sensitively, so it is very important to surround this special person with care and warmth.

If you think that you have Down syndrome and the symptoms characteristic of this disease, your pediatrician can help you.

We also suggest using our online disease diagnostic service, which selects probable diseases based on the entered symptoms.

Diseases with similar symptoms:

Oligophrenia (or mental retardation, dementia) implies the definition of a group of pathologies that differ from each other in the characteristics of etiology and pathogenesis, in which we are talking about congenital or acquired forms of mental underdevelopment during early childhood. Oligophrenia, the symptoms of which manifest themselves primarily in the form of damage to the mind due to a stop in personality development against the background of pathological development of the brain, in addition affects the volitional and emotional qualities of the patient, his motor skills and speech.

Home » Diseases » How long do children with Down syndrome live? Down syndrome or heart where resentment does not live.