What is Down Syndrome? Down syndrome: symptoms, causes, treatment of the disease, signs during pregnancy, syndrome symbol. March is International Down Syndrome Day. Down syndrome treatment

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 who received higher education in 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.

The word "down" in modern society more commonly used as an insult. In this regard, many mothers with bated breath are waiting for the results of ultrasound, fearing anxiety 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 genetic pathology a congenital chromosomal anomaly. It is accompanied by the deviation of some 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 recruitment characteristic features and certain traits, i.e. about the syndrome.

The very first mention of the syndrome was supposedly noted 1500 years ago. It is this age that is attributed to the remains of a child found in the necropolis of the French city of Chalon-sur-Saone. The burial was no different from the usual ones, from which it can be concluded that people with such deviations were not subjected 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 for the appearance of children with Down syndrome became known only in 1959. Then the French scientist Gerard Lejeune proved the genetic conditionality of this pathology.

It turned out that true reason syndrome - the appearance of an additional pair of chromosomes. It is formed at the stage of fertilization. Normal at healthy person in each cell there are 46 pairs of chromosomes, in the germ cells (egg and sperm) exactly half of them - 23. But during fertilization, the egg and sperm merge, their genetic sets combine to form a new cell- 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 is divided in half. This is where the error occurs. When the 21st pair of chromosomes diverges, she can "grab" another one with her. The zygote continues to divide many times, the 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 there is a violation in the divergence of 21 pairs of chromosomes during division.
Translocation. This type of Down syndrome is less common, only 5% of cases. In this case, a part of a chromosome or a whole gene is transferred to another place. Genetic material can "jump" from one chromosome to another, or within the same chromosome. In the appearance of such a syndrome, the genetic material of the father plays a decisive role.
Mosaicism. The rarest form of the syndrome occurs in only 1-2% of cases. With such a violation, part of the cells of the body contains a normal set of chromosomes - 46, and the other part is enlarged, i.e. 47. Children-downs with mosaic syndrome may differ little from their peers, but slightly lag behind in mental development. Usually such a diagnosis is 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 a common person. Then the diagnosis is confirmed by a more detailed examination and a series of tests.

What is the danger of the syndrome?

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

impaired immunity;
hearts;
abnormal development of the chest.

For these reasons, a down child is more often prone to childhood infections and suffers from pulmonary diseases. In addition, its growth is associated with a lag in mental and physical development. delayed formation digestive system can lead to a decrease in enzyme activity and difficulty in digestion. Often a down child needs complex operation on the heart. In addition, he may develop dysfunctions of other internal organs.

Avoid sometimes unpleasant consequences help on time Taken measures. Therefore, timely examinations are important at the stage prenatal development future child.

At-risk groups

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

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

Diagnostics

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

invasive - involving surgical invasion of 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 research. Down syndrome on ultrasound is detected 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 baby down, she needs to undergo a whole range of examinations.

Can it be prevented?

It is possible to prevent the appearance of a child with Down syndrome only before the start of conception by genetic testing mother and father. Special tests will show the degree of risk of chromosomal pathology in the unborn fetus. This takes into account many factors - the age of the mother, father, grandmother, the presence of marriages with blood relatives, cases of the birth of children of downs in the family.

Upon learning of the problem early term, a woman has the right to independently decide on the fate of the fetus. Raising a child with Down syndrome is a very complex and time-consuming process. All his life such a child will need high-quality medical care. However, we should not forget that even children with such disabilities can fully study at school and achieve success in life.

Is there a cure?

Down syndrome is considered to be untreatable because it genetic disease. However, there are ways to weaken its manifestations.

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

Such a modern scientific development can compensate for the lag in the physical development of the child. The therapy can normalize bone growth, brain development, improve good nutrition internal organs, strengthen immunity. The introduction of stem cells into the child's body begins immediately after his birth.

There is information about the effectiveness long-term treatment 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 contact, positive, despite mood swings. For these qualities they are often called "solar children".

In Russia, the attitude towards children suffering from a chromosomal abnormality is not distinguished by benevolence. may become the subject of ridicule among his peers, which will adversely affect 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 getting a job. It is not easy for them to start a family, but even if they succeed, there are problems with the ability to have children. Downy men are infertile, and women have an increased risk of having sick offspring.

However, people with Down syndrome may full life. 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 in Moscow was created in 1999.

About 60 years old, that's how long Downs live today. Average duration The lifespan of a person with Down syndrome Back in 1983 was 25 years. Sharp increase largely due to the end of the inhuman practice of institutionalization of these people.

Adults with Down syndrome have physical and intellectual delays from birth, but they have many different abilities that contribute to fuller self-fulfillment, which cannot be predicted in advance.

After the Second World War, organizations began to appear in Europe advocating the inclusion of people with Down syndrome in the general school system providing support to their families. Prior to that, they were often placed in psychiatric hospitals, shelters, special centers for children with the syndrome.

March 21, 2006 was the first international day of people with down syndrome. It was recognized by the United Nations General Assembly in 2011 and named World Syndrome Day - WDSD

Today, in the US, by law, these people must be provided with an appropriate and free public education. Some may choose to live completely independently, receiving state aid. A small but growing number of people are starting families despite Down's diagnosis.

They are becoming more integrated into society and public organizations, thanks to programs to support the employment of people with down syndrome.

More and more Americans are interacting with the Sun people, which increases the need for broad public education and supportive work.

The vast majority of people with DS are satisfied with their lives.
Accept themselves and their appearance.
They love their parents, brothers, sisters.
They feel that they can easily make friends.
Most people with DS are happy to help other people.
Only a small percentage feels sadness, this is more often associated with a transitional age.

They attend school, work, participate in decisions that affect them, have significant relationships, vote and contribute to society in many wonderful ways

Like we have

International Down Syndrome Day is not celebrated in the Russian Federation as widely as in other countries. People try not to notice the problems of these people. In addition, since 2014, the Ministry of Health has not collected statistics in Russia on the number of children born with Down syndrome.

Important Facts

Yes, people with Down Syndrome can have children. Although the vast majority of male Downs are infertile, some of them can become fathers. Poor fertility in men is thought to be related to sperm development problems; also related to the fact that they are not sexually active.

Women with DS have about a 50% chance of having a baby. Menopause usually occurs more early age. Complications are much more likely, and a significant proportion of identified pregnancies do not result in a live birth.

For children born to women with DS, downism is inherited, in 50% of cases.

Two people downs can be born healthy child. But it should be borne in mind that the pathology is associated with mental retardation, so parents will not be able to take care of their children.

About 92% of pregnancies in Europe with this diagnosis are terminated. In the United States, about 67%, but the rate has varied from 61% to 93% among different populations.

When non-pregnant women were asked if they would terminate a pregnancy if their fetus was positive, 23-33% said yes, pregnant women with high risk, 46-86% said yes, women who showed positive result screening, 89-97% say yes.

Although the chances of having a child with an extra chromosome increase after age 35, it has been found that 80% of children with the condition are born to women under the age of 35.

Alexandra Savina

THE FATE OF PEOPLE WITH DOWN SYNDROME TODAY IS NOT THIS like fifty or even twenty years ago: the duration and quality of their lives have greatly increased, and an inclusive society no longer seems like something fantastic. Nevertheless, the syndrome is still surrounded by many stereotypes and myths. Let's find out where the truth is.

Down syndrome is not a disease

Down syndrome was first studied in detail by the British scientist John Langdon Down in 1866, but the cause of its occurrence was not described until almost a hundred years later, in 1959. In human cells, as a rule, 46 chromosomes: 23 from the mother and 23 from the father. People with the syndrome have an extra 21st chromosome in every cell - all the features of their appearance and state of health are associated with it.

Down syndrome is diagnosed in one of (according to other sources -) newborns. Most of the time it's not connected.
with heredity and is an accidental violation - although in some cases it is explained by hereditary
a genetic anomaly in one of the parents. In the 1970s, prenatal tests began to be done, and in the 1980s, studies appeared to predict the likelihood of a mother having a child with Down syndrome.

With the introduction of technology, new ethical questions have also arisen. Many women, upon learning that their child will have such a syndrome, decide to terminate the pregnancy - Iceland may be the first country where such people
will not be born at all. All this can lead to even greater stigmatization of the owners of the syndrome. In Russian medical circles, Down syndrome is still called a disease, but activists
to do this - as well as to say that a person is "suffering" or "sick" with it. It is a condition that cannot be contracted and cannot be cured - and the person diagnosed with it can live a full and interesting life.

Down syndrome in a child is not associated with the actions of the mother

The older the woman, the higher the likelihood of having a child with Down syndrome: for example, according to National Service health care in England, for a twenty-year-old woman it is 1 to 1500, for a thirty-year-old woman it is 1 to 800, for a forty-year-old woman it is 1 to 100, and for a forty-five-year-old woman it is 1 to 50. Nevertheless, it is impossible to say that this is the only reason: a child with a syndrome Down can appear in a woman of any age. According to the charity Down Syndrome International, children with the syndrome are more likely to be born to younger mothers, simply because women at this age generally give birth more often. In addition, there is no evidence that any actions of the mother before or during pregnancy can affect the occurrence of the syndrome in the child.

A teacher, a photographer, an actress, a model, a boxer, a happy wife… They are united by a diagnosis – Down Syndrome

Pablo Pineda - teacher

Spaniard Pablo Pineda is the first person in Europe with Down syndrome to graduate.

Keith Owens I have been married to the man I love for three years

What do I like most about life married woman? I like being a wife, because now I can command him! It's a joke. It changed my life forever, it means everything to me." P

Oliver Hellowell - photographer

About a year ago, his mother - Wendy O'Carroll - dedicated to Oliver's photographs. Before the story about him was shown on the BBC, the page had more than 10.5 thousand subscribers around the world. Oliver hopes that photography will become his profession in the future.

Nikita Panichev works at the prestigious Coffeemania

“I really like “Coffeemania”, there are a lot of guys with whom I communicate, they are very friendly and enthusiastically greet me. I come, I give them joy and happiness, I always work on the positive. Working two in two, full shift, 12 hours » .

Ashley De Ramus created a collection fashion clothes for people like her

"I was looking through great amount fashion shows and 'don't wear it' shows, Ashley points out. And when I watch shows like this, I always wonder, 'What could be done with these models for people with Down's Syndrome?'

Cree Brown started her modeling career

“When a camera is pointed at her, she comes to life,” says the girl’s mother.

Maria Nefedova – actress and assistant speech therapist

“The obstetrician told my mother to give up on me. He took me to the next room and showed me a classic child with Down's syndrome who can't do anything. Mom called her father, and he decided: “If we don’t need this child, then the state won’t need it either.” Now I would tell the obstetrician that I am proud of my parents.”

Eli Reimer conquered Everest

The teenager managed to get to one of the base camps, which are located on Everest. Eli's dad, Justin Reimer, invited his son to go hiking with his climbing team in order to raise money for the family. charitable foundation. “It was just something unreal,” Justin Reimer shares his impressions. - We stood together with my son at the top, and I saw a smile on his face. At that moment, he looked healthier than any of us, it was amazing, it was inspiring, it was just amazing!”

Garrett Holev - boxer

Garrett found his calling in kickboxing. Sport allowed him to equalize the possibilities of the brain and body.

Marina Mashtakova dances on the stage of the Grand Kremlin Palace

“Looking at Marina, who enters the stage of the Palace of Congresses, I understand that this is a child who can rightly be proud of her successes,” says her teacher.

Down syndrome in questions and answers

How common is Down Syndrome?

- Down syndrome occurs in 1 out of 800 cases. Historically, this is the most common genetically determined disease. In the United States, for example, for every 691 births a year, there is a child with Down syndrome.

The genetic basis for Down syndrome is the presence of a single or part of an extra chromosome on chromosome 21, which results in characteristic physical and mental symptoms. Physical and medical characteristics, as well as the characteristics of the developmental process of children with this syndrome, were collected together and described in 1866 by Dr. John Lang Down, which is why the syndrome subsequently received his name. In 1959, Dr. Jerome Lejeune identified the scientific cause of the syndrome by demonstrating scientific community genetic composition (karyotype) of cells of patients with an extra pair of chromosome 21.

Are older women really more likely to have children with Down syndrome?

- The probability that a reproductive female cell will contain an extra pair of chromosome 21 increases in proportion to the woman's age. That is why the probability of having a child with Down syndrome is higher in a woman older than 45 years. Every year, only 9% of older women decide in favor of motherhood, of which 25% become mothers of children with Down syndrome.

Are all people with Down syndrome mentally retarded?

Most people with Down Syndrome have an IQ that is either low or high mental retardation(less than 70). Some people have almost no problems with IQ, so they are able to live independently of others.

Should children with Down syndrome study in separate classes?

- The law of the Russian Federation does not prohibit taking a child with Down syndrome to an ordinary kindergarten or to an ordinary district school. Integration into a regular school will give the baby the opportunity to learn to interact with people in the way it is customary in the outside world. Many schools now have a "learning profile" that describes the strengths and weaknesses that each child with Down syndrome has.

Is there a cure/treatment for Down syndrome?

Researchers have identified the genes that are responsible for the occurrence typical symptoms Down syndrome, and this moment simulate Down's syndrome at different stages of its occurrence in mice. These studies will help specialists in the near future to understand the main links that can be influenced in the search process. effective ways correction of a genetic disorder.

How to Treat People with Down Syndrome

There are no mentally retarded people, there are people with disabilities mental faculties who every day try to do their best to realize themselves.

There are no Downs. People with Down syndrome are, first of all, people, and only then - with Down syndrome. There is no need to label them or belittle their abilities by calling them "Downs".

"Down" is not an adverb that changes people. There is no "Down society", "Down parents", or "Down children". There are communities of parents and children with Down syndrome.

These people are not angels and they do not have supernatural powers. Idealizing them is not The best way express the warmest feelings and emotions. True love accepts people for who they are, with all their strengths and weaknesses.

People with Down syndrome are more like other people than they are different from them. They grow and develop just like other people. They consistently go through all stages of development - from children and adolescents to young people. As they progress through a particular stage, it is the job of the parents to support and educate them according to their needs at each stage. Children with Down syndrome do not remain "forever children" at all.

There is no "mild" or "severe" form of Down syndrome. A person either has or doesn't have Down syndrome. There are various genetic modifications of this syndrome: trisomy of chromosome 21 due to nondisjunction of chromosomes during meiosis (occurs in 95% of cases), Robertson translocation (in 4%) and mosaicism (in 1% of cases).

People with Down Syndrome don't walk the streets with a manual that outlines their abilities and limitations. Each person - whether with or without Down syndrome - is unique, and each has talents and abilities that allow them to take their place in society and realize their potential.

Many parents of children with Down syndrome do not need pity - rather, they are waiting for the day when their children will no longer be judged by their appearance, but will finally be given a chance to show others that they are also individuals.

Prepared by Maria Khorkova, Yana Ivashkevich