Baby down - what does it mean? Signs and symptoms of Down syndrome. Causes of death for people with Down syndrome. Children with Down syndrome in famous people

A genetic anomaly in the structure of chromosomes can be expressed in different ways. There are very difficult cases in which a sick person is not capable of almost anything. But a mild form of the disease allows you to maintain a quality lifestyle, as we are convinced by famous people with Down syndrome, about whom it makes sense to talk in more detail.

Regardless of the causes of a chromosomal abnormality leading to a serious illness - Down syndrome, for parents, the birth of a child with such a diagnosis is a real tragedy. Impossible to heal congenital pathology will accompany a person all his life. There are only helper methods Thanks to which you can teach your baby to serve himself, develop elementary skills. With a serious form, it is not necessary to hope for a more or less high-quality life. But if the disease manifests itself in mild form, that is, it makes sense to deal with a child from childhood and not give up. Celebrities with Down syndrome are proof that their beloved child with the “child of the Sun” syndrome has a great future ahead of them.

Madeleine Stewart is an 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 is worth remembering Golden Rule Down syndrome is not a sentence.

A baby is a blessing from above, for the sake of which it is necessary 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 regret for a second that their child is a little different from others. Let us recall at least a few outstanding personalities who have reached unprecedented heights in this difficult life.

Famous people with Down syndrome: the disease is not a problem for targeted

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, accepted by the world community. Someone will say that there are other dates dedicated to other types of diseases. But the category of Downs includes great people: lawyers, actors, models, athletes, outstanding scientists, philosophers, etc.

Model with Down syndrome - Madeleine from Australia

About a few years ago, young Australian Madeleine Stewart made her debut on the catwalk. Her first appearance caused a mixed reaction - some were delighted, others wondered how the girl managed to serious illness achieve such success. The conversations did not have time to subside, as she again conquered the podium already outside her homeland. Mad's career has gone uphill, and there is no reason to stop and grumble at life. And so, the week of the highest fashion in New York was marked not only by a unique show of the leading couturiers of the world, but also by the appearance on the stage of Mud Stuart. The girl pranced along the catwalk in tight leggings, a light top and amazed the audience with grace, ease of movement. It is for this reason that she is trusted to defile in a sports type of clothing, directly associated with lightness and ease.

Sergey Makarov: an actor with Down syndrome received a prize

Another refutation of misconceptions and monstrous myths about this disease is a vivid and instructive example of Sergei Makarov. From childhood, he was prepared for an unenviable fate. It is difficult for Sergey to remember those years when no one wanted to be friends with him, to accept him at school. The worst thing is that the doctors refused to treat the child and, according to them, his life will last up to a maximum of 17 years. 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 ailment, had long crossed the line of a 17-year-old boy. Unfortunately, domestic cinema rarely attracts a talented sun man, and, apparently, loses a lot.

People with this disease can manifest themselves vividly in rare cases, therefore, it is necessary, no matter how crude it may sound, to use their individual and abilities, the extraordinary image.

Russian film actor Sergei Makarov also suffers from Down syndrome

Celebrity Sunshine Kids

A well-known politician and simply a beautiful, smartest 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 steadfastly endured the test, her daughter Masha was treated for leukemia. When the disease was over, a couple of years later, Irina visited the premiere of a foreign film with her daughter and everyone saw that Mashenka was suffering from Down syndrome. In the eyes of people, Irina Khakamada has earned even greater respect and honor, because in spite of everything, she continues to enjoy life with her children and makes every effort to make them feel maternal love, care.

Iya Sergeevna Savvina: the only joy is a sunny son

The famous actress, the heroine of the film adaptations of great works, Iya Savvina, raised her son with a severe form of Down syndrome all her life. Rumor has it that immediately after the birth of a sick baby, she was persuaded by her own relatives to abandon him. 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 delightfully plays the piano, knows foreign languages. Despite the national fame, she was afraid that her beloved Seryozha would be 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 in the circle of experts.

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

Successful people with Down Syndrome

It is difficult to get world recognition not only for a person with some kind of illness, but also for a completely healthy person. But the already famous actor with a solar diagnosis, Pablo Pineda, succeeded in this. 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 the Spanish director noticed his talents. Up to this point, the actor received several diplomas, including in the field of pedagogy, art, teaching. Pineda works in the city municipality, and received from the hands of the mayor of Malaga the important award "Shield of the City".

Pablo Pineda is another successful actor with Down syndrome

Important: Pablo Pineda is the first, and so far, the only person graduates from the university.

Roni is a youtube star

Among famous people with Down syndrome is also listed as a YouTube star, American composer, musician Ronald Jenkins. His parents began to panic after the birth of a sick child and put 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, uncomplicated melodies were played. A positive thing in Ronald's life is that he always had friends, and no one refused to communicate with him. It was with such friends that he began to play musical group at school, playing without notes. Now Roni is the most famous musician, most listeners consider him a modern genius. Since 2003, he has performed under the name "Wig Cheese" and uploads each new composition on the net.

Children of the Sun - public attitude

If we continue to list the most famous people with Down syndrome, then the list will be long. And what is nice, in recent decades, attitudes towards people with such a diagnosis have become an order of magnitude better. Much credit for this modern medicine and the indifferent public, striving not only to alleviate, but also to create all the conditions for the full development of people suffering from pathology. After all, the disease can affect anyone, because for this it is enough slightest pathology in the structure of chromosomes. The disease has no racial, 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 a full-fledged child in the baby and devote your life to him. After all, doctors still cannot determine exactly what Down syndrome is - famous people completely refute the assertion that this is a disease, but a truly sunny condition.

Everyone knows that kings can do little. The king is a hostage of regulations. Kings do this, but they don’t do this - it has always been like this and there’s nothing here, Your Majesty can’t help it, so climb your throne and don’t ask stupid questions!
- Deal. What can people with Down syndrome do?
Everyone knows they can't...

Well, the plate is stuck. Let's change. So what can people with Down syndrome do?

Marry for love
Anya Souza lives with her friend Paul in North London. Anya met Paul at a conference for people with learning disabilities. It was love at first sight. Here is how Anna herself describes it:
“It was love at first sight. That evening there was dinner and dancing. Paul held out his hands to me for me to dance with him. It was so romantic. Then he called and invited me to a cafe.
We started living together in 1998. The fact that I have Down's syndrome was never important to Paul. We would like to have a real family, but we decided not to. There is a 1 in 3 chance that our child will have Down's syndrome, and he may also inherit diabetes from Paul. I don't mind having a child with Down Syndrome because I would give him all the love that my mother gave me, but it would probably be difficult for me to cope with him without help. And in financial plan we'd have a hard time."

Give birth to children
Moika Renko from Slovenia met her future husband in a church choir. Her parents were against marriage, therefore, in order to get married, the young people ran away from home. Now Moika lives with her husband and is raising a lovely daughter, the girl has already gone to first grade. Moika says:
“We really wanted a child. My gynecologist advised us to have a genetic consultation. We only wanted healthy child never to be treated like us. I was told that with highly likely I'm having a baby with Down's Syndrome. And I decided to go through everything necessary examinations during pregnancy. My first pregnancy ended in a miscarriage. I think it's the result of hard work in the factory. During the second pregnancy, the fetus was diagnosed with Down syndrome. I decided to have an abortion. It was a difficult and painful decision. From the third pregnancy my lovely daughter was born. She filled our home with joy and happiness.”

Work
People with Down syndrome are offered the following jobs: dish washer, cleaning lady, garden worker, restaurant clerk fast food, supermarket sales assistant, caregiver assistant, maid, office worker, theater and film actor and so on ...

And earn
Usually people with Down syndrome and other people with disabilities earn little, and there are those who cannot work at all. But in America, for example, non-working people with disabilities receive such large benefits that they are enough not only to live and medical support the disabled person himself, but also for the well-being of his family. And people with disabilities know this. They are proud of the fact that they "earn" the money that goes to the family budget.

Get higher education
Pablo Pineda became the first person with Down syndrome in Spain to graduate. “Yes, it was very difficult for me to resist the existing prejudices regarding Down syndrome and at the same time cope with the academic requirements in the system. higher education. However, these tests were also fruitful” - this is how Pablo answers the question: What is the most difficult thing for you at the university?

enjoy art
And to create it ourselves - to write pictures, music and books, to play in theater and cinema. Michael Johnson is an artist, his mother helps him sell paintings. They came up with a wonderful commercial technique - Michael draws babies with Down syndrome among flowers or in the guise of angels, parents give Michael a photo of their child, and then buy a finished painting. Michael also draws pets, architecture, and of course he writes a lot for himself. Here is his website: http://users.psln.com/sharing/Michael/mainMichael.html

Do plastic surgery
People with Down syndrome have a specific appearance, plastic surgeons help improve it for those who want it. Some parents themselves turn to surgeons, because plastic surgery can not only improve the appearance, but also help the child speak better.

What else?
- drive,
- use public transport,
- do housework,
- treat people suffering from depression and people with autism,
- win the Paralympics
- and so on and so forth...

be happy
People with Down Syndrome are the real kings Have a good mood, smiles and laughter. Love Syndrome, Good Syndrome - this is how Down syndrome is called by people who know what they are talking about. :)

In preparing the article, materials from the site sunchildren.narod.ru/, books by B.Yu. Kafengauz “A child with hereditary syndrome. The experience of education "and a photo of Vladimir Mishukov from the calendar" Love Syndrome "kak.ru/news/photo/a5355/

Down syndrome is a common genetic anomaly. It is congenital and manifests itself in the presence of one extra chromosome. At the same time, the lifestyle of parents, the ecological situation, climate and other conditions do not affect this process in any way. And there is no one's fault in the appearance of an extra chromosome. Children with Down syndrome have a number of features, as a result of which their development is slightly behind their peers, but practice shows that parental love and patience work wonders and children learn to do everything that children can do without an extra chromosome.

Today, people with Down syndrome are not excluded from society. They live the same life: study, work, act in commercials and films, do charity work. They become a real role model, because they show that there is no need to despair and lose heart under any circumstances.

We invite you to learn the stories of 10 people with Down syndrome who have proven that barriers do not exist. Perhaps, inspired by their example, you will stop blaming evil fate for your failures and finally realize the most daring and ambitious plans!

Andrey Vostrikov

Andrey Vostrikov - six-time champion of the Special Olympic Games. The young man is from Voronezh. He is professionally engaged in gymnastics and serves as an example for young people. Andrei regularly attends international competitions and leads a very active and interesting life.

Pablo Pineda

Many people with Down syndrome find themselves in the arts. Pablo Pineda is no exception. Today he is a successful Spanish actor. In 2009, Pablo received the Silver Shell at the San Sebastian Film Festival for his role in Me Too, where he played a teacher with Down syndrome. Pablo lives in Malaga and works in the local municipality.

Sergey Makarov

Sergey Makarov is an actor with Down syndrome. He plays in the Theater of the Innocent. As a child, they did not want to take Sergei to school, but in 2004 the man became the movie hero of the year at the Stalker international festival. He always purposefully walked towards his dream and never turned around to someone else's opinion.

Maria Nefedova

Maria Nefedova lives in Moscow. Until recently, she was the only employed person with Down syndrome in Russia. Maria works at Downside Up. She is an educator's assistant and helps run group classes for children with Down's Syndrome. In her free time, the girl is busy in the productions of the Theater of the Innocent and plays the flute.

Stephanie Ginz

Stephanie Ginz - famous actress. Down syndrome has never prevented her from realizing herself in creativity. Even in her youth, Stephanie participated in theatrical performances and starred in commercials. At the dawn of her acting career, the girl starred in the film "Duo", which was awarded many awards. To a wide audience, Stephanie is known for her role in " American history horrors."

Bogdan Kravchuk

Bohdan Kravchuk became the first person in Ukraine with Down syndrome who entered higher education educational institution. Bogdan is very erudite: he knows English language, remembers by heart the capitals of almost all countries of the world and significant data from the history of Ukraine, owns a computer. When entering the university, the young man scored 160 out of 200 possible points.

Karen Gaffney

Karen Gaffney is a glamorous athlete with Down syndrome. Despite being paralyzed left leg, Karen managed to swim the English Channel and set a world record. She also became the gold champion of the Paralympic Games. In her spare time from sports, Karen is involved in charity work and manages non-profit organization that helps children with disabilities.

Tim Harris

Tim Harris, his natural feature did not prevent him from opening his own business. His restaurant "Tim's Place" was recognized as the friendliest restaurant not only in the United States, but throughout the world. The restaurant's signature dish is Tim's Embrace. The young restaurateur during the existence of his business managed to personally hug more than 60 thousand people.

Miguel Tomasin

Miguel Thomasin is a special person. He was born with Down syndrome, but he managed to achieve success in the musical field. Often referred to as the guru of experimental music. Miguel plays drums in his own band, regularly performs at schools and centers for sick children, covers songs of his favorite musicians.

Paula Sage

Paula Sage was born in Scotland. The girl leads an active social and professional life. She works as a lawyer and provides legal support to two international organizations- AnnCap and Mancap. Paula also plays netball and sometimes acts in documentaries and feature films. For her role in After Life, she received a BAFTA award for Best Feature Film Debut.

People with Down syndrome differ from us in only one extra chromosome. Society should do everything so that they can feel comfortable in society, and do not treat them with prejudice. They can study, work and start their own business!

What do most people know about Down syndrome? That it is somehow connected with chromosomes, that babies with this syndrome are more often born to mothers of “age”, and also that there are such “sunny children” who find it difficult to live in this world. On Down's Disease Day, MedAboutMe explores what known facts- true, and what - a myth.

Normally, a person has 23 pairs of chromosomes, that is, there are 46 in total. But if the 21st chromosome is not in a double, but in a triple version, then there are 47 chromosomes. This condition is trisomy on the 21st chromosome and leads to the development Down syndrome. By the way, the date for the international day people with Down syndrome corresponds to the cause of the disease - 21.03.

In fact, the word "syndrome" is more correct to describe given state, since in fact it is not a disease, but a set of certain signs. Some people have blue eyes, some people have curly hair, and people with Down syndrome have their own character traits given to them from birth.

Humans are not the only representatives of the animal world who have trisomy on the 21st chromosome. At a minimum, mice and monkeys are known to have the same syndrome.

An extra chromosome, in a rough analogy, is like an extra gear squeezed into a well-oiled mechanism. An extra set of genes confuses human development. As a result, people with Down syndrome acquire a number of characteristic external and internal features. For example:

• characteristic symptom is mental retardation varying degrees;
• hearing problems and visual impairment more often;
• they are on average more likely to suffer from ear infections;
• skeletal disorders may develop due to distortion of bone growth;
• often there is a decrease muscle tone;
• often have problems with coordination of movement;
• many of them suffer from obstructive sleep apnea, which is caused by the peculiarities of the structure of their facial part of the skull;
• increased risk of developing heart defects.

Trisomy on the 21st chromosome is just one of the variants of various trisomies. For example, three copies of the 18th chromosome lead to the development of Edwards syndrome, and trisomy on the 13th chromosome manifests itself in the form of Patau syndrome.

Among the less common ailments that people with Down syndrome often suffer from are diseases thyroid gland, anemia , dysfunction gastrointestinal tract, hip dislocation, etc.

And at the same time, babies with Down syndrome are often called "sunny children" - they are affectionate, friendly, smiling easily, often with an ear for music. Correcting their “wrong” genome is not yet possible, but adapting such a person to ordinary life- is quite real.

Myth #1. Down syndrome is rare

Down syndrome has existed throughout human history. But before, in the vast majority of cases, such people died in infancy or childhood. Mankind has also gone through shameful events in its history, when people with Down syndrome were sterilized (USA) and destroyed (Germany). Only towards the end of the last century did the attitude towards them change sufficiently to enable them to become full members of society and live a sufficiently long life.

Today, Down syndrome is diagnosed in 1 out of 1100 newborns, although until recently it was about one case in 650-700 births. It has to do with success prenatal diagnosis, and 90% of women, having learned about the pathology, choose an abortion. So it turns out that trisomy on the 21st chromosome is not at all a rare mutation.

Indeed, with age, the risk of a mutation that will lead to trisomy on the 21st chromosome increases. Moreover, starting from about the age of 38-39 years, the probability increases significantly: if a young girl of 20-24 years old can conceive a child with Down syndrome in 1 case out of 1562, then at the age of over 45, the chances are estimated as 1 to 19. But this does not at all guarantee that a baby with such a diagnosis cannot be born to a 19-year-old young mother.

Moreover, since “aged” women rarely give birth, according to statistics, it turns out that 80% of children with Down syndrome are born in women under 35 years old. BUT average age mother is 28 years old.

Myth #3. Down syndrome - an obstacle to learning

Another misconception about "solar people". Indeed, mental retardation is one of the signs of this condition. But it usually ranges from mild to moderate. Experts estimate that people with Down syndrome have IQs between 30 and 60, with higher rates occurring.

Most importantly, all people with Down syndrome are capable of learning. In the United States, the vast majority of children with this diagnosis attend regular schools and a number of specialized classes. Of course, at the same time they have a tutor - a curator who helps the child learn and interact with the ordinary world.

As mentioned above, in the past, indeed, children with Down syndrome did not live to old age. Given their many illnesses and inability to exist on their own without pre-training and adapting to life in society, this is not surprising. But times have changed. Today, the life expectancy of people with Down syndrome is an average of 50 years, but among them you can already meet 60- and 70-year-old people.

But here another problem arises: often (3-5 times more often than ordinary people) they have early development Alzheimer's disease. Moreover, deposits of beta-amyloid protein begin to form almost in childhood. In addition, studies have shown that the area of ​​\u200b\u200bthe cerebral cortex in ordinary people is larger than in Down syndrome owners. But with age, the latter's cortex becomes thicker, which also significantly increases the likelihood of developing Alzheimer's disease.

Myth number 5. All people with Down syndrome are the same

Down syndrome defines a series external characteristics, similar in all its owners: short stature, flat face and flat bridge of the nose, epicanthus (vertical fold in palpebral fissure), flat nape, shortened fingers (due to underdevelopment of individual phalanges), ajar mouth (due to the structure of the palate), impaired tooth growth, etc. A characteristic cut of the eyes, even at one time, caused the already outdated name of the disease "mongolism", and people with this syndrome were called Mongoloids. Mongolism was later officially replaced by Down syndrome.

In fact, the features of the appearance of people with trisomy on the 21st chromosome are expressed no more than the characteristic features of people of a particular nationality. People with Down syndrome, in addition to the features given by the disease, like all other inhabitants of the planet, bear pronounced similarities with their parents. Each of them is individual and unique in its own way, like any person on Earth.

It is not for nothing that they are called "sunny" - they really often smile. But, like any other person, all other emotions are also characteristic of them - anger, happiness, sadness, etc. Moreover, people with Down syndrome suffer from depression more often than other citizens.

For reference

• About 2,000 children with Down syndrome are born in Russia every year. In 85% of cases, they fall into the number of refuseniks and are sent to orphanages.
• As of 2009, there were 250 people on the waiting list to adopt a child with Down syndrome in the United States.
• There are countries where the number of abandonment of such children is zero, for example, the states of Scandinavia.

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 usually contains 46 chromosomes. Chromosomes are arranged in pairs - half from the mother, half from the father. In people with Down syndrome, an extra chromosome is present in the 21st pair, as a result of which, 47 chromosomes are found in the 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 extra chromosome damages the REST gene, which in turn provokes a number of changes in the genes that regulate the development of the organism at the level of embryonic stem cells. The trigger for 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 say.

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

An electron micrograph shows this genetic defect.

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

• non-hereditary variant of the disease - 95%
• translocation of chromosome 21 to other chromosomes (more often to 15, less often to 14, even less often to 21, 22 and the 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 is named after English doctor John Down, who first described it in 1866. Relationship between origin 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 parents, skin color, nationality. There is no one's fault in the appearance of an extra chromosome. The extra chromosome appears either as a result of 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 probability 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 well as in ovogenesis, increases with age.

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

AT this moment, due to prenatal diagnosis, the birth rate of children with Down syndrome has decreased to 1 in 1100.

The ratio of boys and 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 people with Down syndrome are actually born to young women under the age of 30.

And since the majority of patients are still born to young mothers, it is very important to understand what factors other than the age of the mother affect the likelihood of having a sick child. Doctors often advise mothers-to-be over the age of 35 to have an 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 found that the likelihood of having a child with Down syndrome is highly dependent on the age of the maternal grandmother: the older she was when she gave birth to a daughter, the higher the likelihood of having sick grandchildren. This factor may turn out to be more significant than the three others previously known (mother's age, father's age, and the 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 features or characteristics.

In 1866, in his first article, J. Langdon Down described some of the characteristics of people with Down syndrome. He noted, in particular, specific features faces like: flat profile, narrow, wide-spaced slanting eyes.

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

1. "flat face" - 90%
2. Mongoloid incision of the eyes - 80%
3. brachycephaly (abnormal shortening of the skull) - 81%
4. flat nape - 78%
5. flat nose bridge - 52%
6. short nose — 40%
7. skin fold on the neck in newborns - 81%
8. short wide neck - 45%
9. The earlobes are poorly developed and appear attached.
10. epicanthus (vertical skin fold covering the medial canthus) - 80%
11. joint hypermobility - 80%
12. muscular hypotension — 80%
13. cataract over the age of 8 years - 66%
14. strabismus = strabismus - 29%
15. dark 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. furrowed 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 (curved little finger) - 60%
23. transverse palmar fold (also called "monkey") - 45%
24. CHD (congenital heart disease) - 40%
25. deformation chest, keeled or funnel-shaped, - 27%
26. episyndrome - 8%
27. Anomalies of the gastrointestinal tract - 10-18%
28. stenosis or atresia of the duodenum - 8%
29. congenital leukemia - 8%.

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

Congenital heart defects are characteristic features 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 "monkey").

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 abnormalities. Interestingly, people with Down syndrome are less likely to have cancerous tumors. It appears that 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's syndrome, then the other is inevitably sick, and in fraternal twins, as in general with brothers and sisters, the probability of such a coincidence is much lower. This fact additionally testifies in favor of the chromosomal origin of the disease. However, Down syndrome cannot be considered hereditary disease, since with it there is no transmission of the 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's syndrome on the basis of blood test for karyotype .
(The analysis shows the set of chromosomes in each of the spouses, which is necessary to detect chromosomal diseases. For example, an abnormal human karyotype for Down syndrome, Trisomy on the 21st chromosome: 47, XX, 21+; 47, XY, 21+).

Based solely on external signs diagnosis is not possible.

Test for genetic abnormalities in an unborn child

AT last years, thanks to the advent of high-resolution ultrasound equipment, great strides have been made in the visualization of fetal anomalies. Applying 3D Surface Mode ultrasound scanning for studying normal anatomy fetus in the second and third trimesters makes it possible to detect a fetus with Down syndrome on early stages intrauterine development.

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

Back in 2009, researchers from a London clinic artificial insemination Bridge Fertility Center has developed a test for almost all known genetic diseases(he is able to determine 15 thousand diseases). Its cost is $2400.

With the help of such a universal test, parents can determine the likelihood of a particular genetic abnormality in their unborn baby. It will help you much faster and more accurately. existing tests receive test results. Moreover, today current methods only 2% of genetic diseases can be identified.

When two days after fertilization and before implantation, it is necessary to conduct an examination of 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%, according to BBC News.

The British Down's Syndrome Association investigated a thousand parents to find out why they did not terminate their pregnancy, having received positive results test. A fifth of the respondents said that they knew people with Down syndrome, so they were not afraid to give birth to such a child. A third of the respondents referred to religious principles and opposition to abortion. And 30% believe that life has improved for people with Down syndrome. In particular, education became available to them, and the townsfolk began to treat such patients with great understanding.

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

baby down

The doll, which comes in male and female versions, does nothing special, the only difference from the rest of the dolls is a face similar to the face of a child with Down syndrome, with a parted mouth and a slightly protruding tongue. The toy is designed for children to take care of it and learn what a baby with Down syndrome needs, for this, an explanatory brochure is attached to each doll, which tells what you can do with the baby to develop his abilities, reports InoPressa.

In our country, the life of people with Down syndrome is still surrounded by a mass of delusions and prejudices. They are considered deeply mentally retarded and unteachable, therefore, most often, parents refuse such children even in maternity hospitals.

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