Famous people with Down Syndrome. Baby down - what does it mean? Signs and symptoms of Down syndrome

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 deal with him without outside 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 a high probability, I will have a child with Down 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 for the life and medical care of the disabled person, but also for the prosperous existence 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 the 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 genetic anomaly resulting from the bifurcation of one of the 21 chromosomes, resulting in chromosome set a person includes not 46, but 47 chromosomes, which determines further clinical signs.

For the first time, the phenomenon was described by the English physician John Down (thanks to whom the syndrome got its name) in 1866 as mental retardation with characteristic external signs, but only in 1959 did the French geneticist Jerome Lejeune determine the relationship between an excess number of chromosomes and the symptoms of the syndrome.

To date, despite high development medical technology, Down syndrome is a very common and not fully understood phenomenon, which gives rise to many different myths, sometimes contradicting each other. However, it is known that:

  1. This anomaly is equally common in both sexes, different ethnic groups and nationalities.
  2. The development of the syndrome does not depend on the lifestyle of the parents and has a genetic "origin", when anomalies occur either at the stage of egg or sperm formation (it is not excluded, but it is practically unlikely that they can be affected harmful factors external environment), or during the fusion of germ cells after fertilization.
  3. The syndrome occurs when pathological processes in genes, when 1 more chromosome joins the 21st pair (that's why they get 47 instead of 46). Most often this is due to the fact that during cell division, the chromosomes do not diverge. In addition, one of the main reasons may be the heredity of the mutation of the 21st chromosome - when this chromosome merges with another. This mutation is called trisomy and occurs in about one in 800 newborns, and 88% of cases are due to the "non-disjunction" of female gametes (reproductive cells).
  4. Down Syndrome - frequent pathology, which has 3 forms ( hereditary disease, mutation of the 21st chromosome, mosaic disease) and 4 degrees of the disease:
  • weak - patients practically do not differ from ordinary children, quite often they successfully adapt in society and can occupy a very prestigious place in society;
  • average;
  • heavy;
  • deep - children cannot lead the generally accepted way of life of society, and this greatly complicates the life of parents. Nowadays, there is a special prenatal diagnosis that allows you to find out in time about the likelihood of developing a pathology. If you suspect Down's syndrome, parents face the question: leave the child or get rid of the pregnancy? At the birth of a baby, others will arise: how to raise a child, how to provide him normal life and live fully on your own?

5. Down syndrome is not recommended to be called a disease, since people living with this syndrome, although they have pathological changes preventing them from realizing their full potential, however, with right approach specialists from early years most are able to adapt well enough in society.

Causes of the development of Down syndrome

As we have already said, Down syndrome occurs due to an anomaly in cell division, when another third chromosome is glued to the 21st pair of chromosomes. In other words, it is a congenital pathology that cannot be obtained in the course of life. The reasons chromosomal disorders very difficult to install.

This happens as a result of 3 forms of pathology that have an almost identical clinical picture of this syndrome:

  1. Trisomy- a subspecies of the syndrome, characterized by the formation of three chromosomes in 21 pairs. This phenomenon has been little studied, but there is a version that the age of the mother plays a significant role here: the older the woman, the Great chance have a baby with Down syndrome. This is due to the age of the egg, when the birth of a gamete is possible not with 23, but with 24 chromosomes. In this case, when a cell is fertilized by a male gamete with 23 chromosomes, one remains superfluous, and a mutation occurs: the chromosome sticks (attaches) to 21 pairs. As a result, all cells of the fetus will contain 47 chromosomes.
  2. mosaicism- a rare phenomenon (make up only 1-2% of all cases), in which not all cells of the fetus will contain an abnormal number of chromosomes, therefore only certain organs and tissues are affected by the phenomenon of the syndrome (if copying falls on the genes responsible for mental and motor development, then the development of the syndrome in the fetus cannot be avoided). This is due to the "non-disjunction" of the chromosome series not at the stage of formation of parent germ cells, but at early stages embryo development. This form of the syndrome - with a smoothed clinical picture- belongs to the light, however, during perinatal studies, it is extremely difficult to diagnose.
  3. Translocation- occurs during cell fusion and at the same time, a shift of a part of one chromosome in the 21st pair to the side of the other chromosome is noted.

However, there are other reasons for the development of Down syndrome:

  1. The age of the parents is too young a girl, or, conversely, a woman over 40 years old, and for men - over 45 years old (the risk of having a child with the syndrome is 1:30). Due to age, the maturation and division of chromosomes “slow down”, and a defective cell is obtained. Being involved in fertilization, it will subsequently become the cause of the development of Down syndrome.
  2. Closely related marriage (bond).
  3. deficit folic acid during pregnancy.
  4. The likelihood of having a child with Down syndrome increases if the disease occurs in the family of the parents.

Down Syndrome Symptoms

The disease is usually called a syndrome, as it is characterized by a number of symptoms and signs, as well as characteristic manifestations:

  • narrow and slanting (Mongoloid) eyes ( earlier pathology was called "Mongolism");
  • the presence of an epicanthus (a special fold at the inner corner of the eye, which covers the lacrimal tubercle and does not pass to the upper eyelid);
  • strabismus and noticeable pigmentation of the iris (Brushfield spots), cataracts are possible;
  • flat profile - flat and wide bridge of the nose and short nose, occipital region;
  • shortened (small) skull;
  • shortened neck - the newborn has a fold of skin in this area;
  • underdeveloped auricles;
  • hypotension (weak tone) of the muscles;
  • an arched palate, an abnormally large tongue (macroglossia) and an open mouth due to reduced muscle tone;
  • wide hands with short fingers due to underdevelopment of the middle phalanges - there is a curvature in the little finger,
  • on the palms there is a single transverse fold;
  • short limbs;
  • deformation is observed (keeled or funnel-shaped) chest;
  • often (about 40%) children with the syndrome are born with congenital defect hearts (defective processes in the septum between the ventricle), which is one of the main causes of their mortality;
  • pathological processes gastrointestinal tract(for example, artesia of the duodenum 12);
  • the child may be born with leukemia;
  • the child lags behind in growth, mental development;
  • hoarse voice;
  • most often, patients are infertile, but when offspring appear, children have the same pathology.

However, it is worth noting that people with Down syndrome rarely have malignant tumors, and this is due to the protection of the extra gene.

At the birth of twins, the syndrome is observed in both children.

expressiveness the above signs is different for all patients.

Diagnosis of Down syndrome

The modern level of medicine and technology in case of suspected Down's syndrome makes it possible to carry out timely diagnosis and if DNA abnormalities are found, get rid of the current pregnancy.

For diagnosis, several methods are used:

1. Ultrasound - carried out in the 2nd or 3rd trimester of pregnancy, when a fetus is scanned to detect pathology. This method makes it possible to "see" the signs of Down syndrome with the help of some "measurements":

  • thickening of the collar space (with developing syndrome it will be more than 3 mm);
  • absence of the nasal bone;
  • small sizes of the frontal lobe and cerebellum (hypoplasia);
  • shortened femurs and ulna and etc.

However, ultrasound reveals only one of the forms of the syndrome - trisomy. The remaining subspecies of pathology cannot be detected by this diagnostic method.

2. Biochemical analysis blood of a pregnant woman in the 1st trimester (to establish the karyotype - the gene content of the mother's blood), during which the level of the hormone synthesized by the fetus (hCG) and PAPP-A is taken into account. In the 2nd trimester, the analysis is carried out again.

3. A biochemical test (by the level of free chorionic hormone) makes it possible to diagnose Down syndrome as early as the 12th week of pregnancy, and at the 16th week, a test for estriol and α-faetoprotein is carried out - indicators of the presence of Down syndrome. When confirming the data, you must immediately contact a geneticist who prescribes:

  • choriobiopsy - a study of the tissues of the fetal membrane;
  • amniocetesis (analysis of amniotic fluid) - study cellular composition amniotic fluid, as well as baby tissues, which will provide information about the cellular set of chromosomes of the child;
  • cordocentesis - analysis cord blood fetus.

These methods are highly accurate, but, unfortunately, unsafe for a woman - they can lead to complications, up to miscarriage, and therefore are carried out only in extreme cases (if the pregnant woman is over 35 years old, if there is a suspicion of a syndrome in ultrasound studies, or there is a disease in family).

However, science does not stand still, and London clinics have already developed a special test that allows you to accurately find out about all genetic diseases.

Down syndrome treatment

Down syndrome is incurable disease, since no one can “correct” DNA, but it is possible to improve the general condition of the patient and improve the quality of his life.

Treatment congenital pathologies conducted by specialists - pediatrician, cardiologist, gastroenterologist, ophthalmologist and others. Their efforts are aimed at improving the health of the patient, and despite the fact that specific treatment the syndrome does not exist, it is still impossible to avoid taking medications. Among them:

  • Piracetam, Aminolone, Cerebrolysin - to normalize blood circulation in the brain;
  • neurostimulators;
  • vitamin complexes - for strengthening general condition health.

However, quite often, with age, children with Down syndrome show a number of complications associated with physical health: diseases of the heart and digestive organs, endocrine and immune systems, problems with hearing, sleep, vision, cases of respiratory arrest are not uncommon. In addition, almost a quarter of patients after 40 years of age (and sometimes even earlier) have obesity, epilepsy, Alzheimer's disease and leukemia. At the same time, it is difficult to predict how the disease will develop, because everything depends on individual features body, the degree of illness and activities with the child. Few people with Down syndrome live to be 50 years old.

At the same time, a speech therapist, a neuropathologist and other specialists deal with the elimination of significant disorders of verbal and motor functions, intellectual retardation; self-care skills training. Based on this, children with Down syndrome are recommended to be sent to specialized educational institutions.

To correct mental retardation, specially designed training programs are used, and it is worth noting that mental and cognitive symptoms in each individual case are expressed differently.

Depending on the degree of damage and the treatment (training with the child), a significant reduction in developmental delay can be achieved. At regular classes with a toddler, he is able to learn to walk, talk, write, and take care of himself. Children with Down Syndrome can visit comprehensive schools, go to college, get married and even in some cases have children of their own.

Among people with Down syndrome there are a lot of artists, writers, artists. There is even an opinion that "children of the sun" are not just genetic disease, but a separate "species" of people who not only differ in the presence of an "extra" chromosome, but live according to their own moral laws and have their own principles.

People with Down syndrome are often referred to as "children of the sun" or "sunshine" because they are constantly smiling, gentle, kind, and radiate warmth. In 2006, the International Down Syndrome Day was established, which is celebrated around the world on March 21st.

Special for - Kira Danet

Down syndrome is a genetic abnormality in which a person instead of 46 chromosomes has 47 due to the fact that one extra chromosome appears in their 21st pair.

Down syndrome has been known to mankind since ancient times; back in the 19th century, doctors observed children with a set of characteristic features appearance, trying to understand what unites them and why such children are born. And in 1862, the English scientist John Langton Down first described the syndrome, but due to the level of development of medicine at that time, he attributed it to mental disorders, because electron microscopes were not available to him to find real reason anomalies.

Most children with this syndrome died before reaching adulthood. With the development of civilization and science, when doctors learned to stop at least a number of symptoms, their life span increased, and the number of adults suffering from Down syndrome increased. But society was in no hurry to accept them - at the beginning of the 20th century, in some countries, adults with this diagnosis were subjected to forced sterilization, and in Nazi Germany and its occupied territories it was ordered to clear the population of such patients. And only since the second half of the 20th century, humanity has finally come to grips with this problem.

It was very important to find the cause of the syndrome. Despite the fact that the relationship between the age of the parents and the possibility of having a Down child has long been noticed, the causes of the disease were sought either in the psyche, or in heredity, or in difficult childbirth. Finally, in 1959, the French scientist Jerome Lejeune suggested that the source of the disease lies somewhere in the chromosomes. Having studied the karyotype of patients, he established a connection between the existing third chromosome in the 21st pair and the presence of the disease. It was also confirmed that the possibility of having such a child is influenced by the age of the parents, and the mother to a greater extent than the father. If the mother is between 20 and 24 years old, the probability of this is 1 in 1562, under 30 years old - 1 in 1000, from 35 to 39 years old - 1 in 214, and over the age of 45, the probability is 1 in 19. Although the probability increases with the age of the mother , 80% of children with this syndrome are born to women under the age of 35 years. This is due to the higher birth rate in this age group. According to recent data, paternal age, especially if older than 42 years, also increases the risk of the syndrome. At the same time, the behavior of parents, their lifestyle and nationality do not affect this possibility in any way: Down children are born with the same frequency, regardless of nationality, place of residence and other factors.
Down syndrome is not a rare pathology. According to statistics, one in 700 conceived children is a carrier, but among children born, the number of carriers decreases to one in 1,100 children. This discrepancy is explained by the fact that some pregnancies are interrupted naturally, a miscarriage occurs, and, which is very painful to talk about, very often women, having learned that they will have a child with this syndrome, have an abortion. last decade religious and public organizations around the world, including Russian Orthodox Church in Russia draws public attention to this problem, to the ethical side, explaining that Down syndrome is not as terrible as it might seem, therefore, it is gradually possible to reduce the number of abortions, in connection with which the number of registered cases of the birth of children with Down syndrome increases annually.

In humans, Down syndrome is usually associated only with mental retardation. However, polysomy on the 21st pair of chromosomes causes much more complications in human body than it might seem at first glance. People with Down syndrome are most often diagnosed with:

"flat face" - 90%
brachycephaly (abnormal shortening of the skull) - 81%
skin fold on the neck in newborns - 81%
epicanthus (vertical skin fold covering the medial canthus) - 80%
joint hypermobility - 80%
muscular hypotension - 80%
flat nape - 78%
short limbs - 70%
brachymesophalangia (shortening of all fingers due to underdevelopment of the middle phalanges) - 70%
cataract over the age of 8 years - 66%
open mouth (due to low muscle tone and the special structure of the palate) - 65%
dental anomalies - 65%
clinodactyly of the 5th finger (curved little finger) - 60%
arched palate - 58%
flat nose bridge - 52%
furrowed tongue - 50%
transverse palmar fold (also called "monkey") - 45%
short wide neck - 45%
UPU ( birth defect hearts) - 40%
short nose - 40%
strabismus (strabismus) - 29%
chest deformity, keeled or funnel-shaped - 27%
age spots on the edge of the iris = Brushfield spots - 19%
episyndrome - 8%
stenosis or atresia duodenum - 8 %
congenital leukemia - 8%

However, at the same time, it is necessary to know that the diagnosis is made solely on the basis of the results of a blood test for the karyotype. It is impossible to make a diagnosis of "Down's syndrome" based only on external signs.

How is the life of a person with such a diagnosis?

Despite the fact that most people with Down syndrome suffer from mental retardation and delayed psycho-speech development, this condition is successfully corrected by rehabilitation measures carried out in childhood. Experience shows that when right attitude to the child from the side of the parents, he is not much different from ordinary children. Down children are trainable, they relatively easily master the usual household skills. Moreover, people with Down syndrome are able to achieve good success in the profession: they can work as waiters, administrators, sellers, receptionists, storekeepers. Actor Chris Burke lives in the USA, known to the Russian audience from the films “ Ambulance” and “Mona Lisa Smile”, which has Down syndrome. The Portuguese Pablo Pineda became the first person in Europe with Down syndrome who received a university education and chose the profession of a teacher. Society, inspired by the examples of these people, should stop shying away from those who live with Down syndrome. This is not the most severe disease in existence, although, of course, the upbringing and adaptation of a child with such a syndrome requires a lot of physical and emotional feedback from parents.

People with Down syndrome successfully marry, with most men being sterile and 50% of women being fertile and having children. Paired with healthy man+ Down woman The probability of having a child with Down syndrome reaches 50%, the other 50% of children are born healthy.

Average duration life of people with Down syndrome modern conditions is over 50 years old. However, due to the existing congenital diseases, they develop Alzheimer's disease much earlier than healthy people ( senile dementia), in addition, with age, the state of health is complicated by the development cardiac diseases and leukemias. In addition, such people have a weakened immune system, and in principle they get sick more often, more severely and for longer than ordinary people.

The main problem of people with Down syndrome at this stage is the reaction of society to them. Unfortunately, many people in Russia have not learned to perceive them as full-fledged members of society, Down people cause fear and rejection, they are extremely reluctant to hire out of fear that they will not cope with their duties, and because of their “unrespectable” appearance . Another important problem is the high number of abortions performed by women whose fetus has the syndrome. According to statistics, even in prosperous economically developed countries, in 90% of cases, women decide to terminate a pregnancy. Church communities should intensify their work aimed at explaining that it is quite possible to live with Down syndrome, it is necessary to convince mothers that abortion with such a diagnosis is a mistake.

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 ordeal requiring 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 anomaly. It is accompanied by a deviation of some medical indicators and a violation 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 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) there are exactly half of them - 23. But during fertilization, the egg and sperm merge, their genetic sets combine to form 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 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. Down children with mosaic syndrome may differ little from their peers, but are slightly 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, the down child is more prone to childhood infections, suffers lung 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. The older the woman, the more risk the appearance of 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 a whole range of studies. 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 studies. 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?

It is believed that Down syndrome is not treatable, as it is a 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.

So modern scientific development how 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 chromosomal abnormality, is not friendly. 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. The average life expectancy of a person with Down syndrome Back in 1983 was 25 years. The sharp increase is largely due to the end of the inhuman practice of institutionalizing these people.

Adults with Down syndrome have physical and intellectual delays from birth, but they have many different abilities that contribute to a more complete 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. Before 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 United States, by law, these people must be provided with 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 community organizations, thanks to programs to support the employment of people with down syndrome.


More and more Americans are interacting with sunny 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 meaningful 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 babies with the condition are born to women under the age of 35.