Who is Down? Down Syndrome: symptoms, causes, treatment of the disease, signs of pregnancy, a symbol of the syndrome

The article describes the features of children with Down's syndrome and methods of detecting genetic pathologies in the fetus during pregnancy.

Often special cheerful and good-natured people with slanting eyes and round faces cause pity or misunderstanding among the people around them. But few people know that people with Down syndrome are not only invalids who need protection and sympathy, but first of all creative, fully developed, talented individuals.

Child-down

What does the word "down" mean?

Down Syndrome is named after physician , who first discovered similarities in behavior, mental abilities and emotions in people with some common features of the structure of the skull and tongue. Officially, the disease got its name in 1965.

The doctor and scientist Down since 1858 worked as a nachmed in the Ersud Royal asylum for the insane. The purpose of his work was to prove that studies with mentally retarded children give positive results. He became the founder of the development center "Normansfield", created for children with genetic disorders.

IMPORTANT: Children-daunas are called Solar children because of their positive thinking, love for everything alive, the ability to be friends, sympathize and empathize.

Girl-Down

What is Down Syndrome: symptoms, face, photos of

Down's syndrome is an abnormal genetic feature of the body that occurs when the number of chromosomes increases. Instead of 46 chromosomes, nature "endowed" these people with 47 chromosomes, namely the 21st pair they have an extra chromosome.

IMPORTANT: According to WHO statistics, 1 out of 650 - 700 babies have Down syndrome. At the same time, the number of male and female children with this pathology is the same.

The frequency of births of downs increases with the age of the mother, but the 18-year-olds are not immune from the manifestation of this genetic disease in their children. After 33 years, the woman several times increases the risk of giving birth to a down.

Newborn down

There are such forms of the syndrome:

• trisomy
• translocation
• mosaicism

Symptoms:

• face and neck unnaturally flat
• special shape of the eyes
• peculiar form of the skull
• ample folds of skin in the region of the upper eyelids
• abnormally small ears
• short limbs
• curvature of the little finger
• far retarded thumb
• deep crease "slit" palm across
• slow growth
• weak muscle tone
• poor coordinationIa
• slurred speech
• weak mental capabilities

baby down

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

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

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

Down face

How many chromosomes does a man have?

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

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

Another 3% inherit the genes of 21 chromosomes not in every cell, but only in some. This is a mosaic version of .Often such people do not have bright signs of the syndrome, their intellectual and physical capabilities are not severely limited. Symptoms of a mosaic type may not be noticeable to others.

Down 47 chromosomes instead of 46

Why children with Down's syndrome are born: the causes of

The only thing that increases the risk of Down's birth is the age of his biological father and mother. The older the parents, the more likely the birth of a child with genetic abnormalities.

For a woman , the "critical" age occurs with 33-35 years, when the probability of Down's birth rises to 1:30. For a male , this danger rises after 42 years of .This is due to the aging of the female body and the deterioration in the quality of spermatozoa in men.

IMPORTANT: Smoking, alcoholism, drug addiction, antisocial way of life does not increase the probability of birth of a down. Ecology, ambient temperature or weather do not influence the appearance of this pathology.

Downs are often born in women older than 35 years.

. The reason for the birth of a child with Down syndrome is high in mother-downs( about 50%).However, in most cases, spontaneous abortions occur in the early stages. Down men can not have children.

Who is born with children with Down syndrome?

Children with Down's Syndrome can be born to absolutely healthy parents. If one child has already been born in healthy parents, then the probability of having a second down is about 1%.

The older the mother, the greater the probability of the birth of a down:

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

The probability of the birth of the down is increased in those who are carriers of genetic translocation. If the carrier is a mother, then this probability is 30%, the father - about 5%.

The older the parents, the higher the risk of the birth of

Down syndrome, signs of pregnancy

In early terms, it is difficult to detect Down's syndrome in a fetus. One of the alarming signals is the detection of ultrasound subcutaneous fluid in the back( collar) part of the neck at 11-13 weeks. However, this method is unreliable - in 20% of cases the result is false.

The most reliable results of a comprehensive survey. If everything at the same 11-13 weeks on ultrasound revealed abnormal thickening in the collar zone and besides, the results of the analysis of blood serum were positive, the pregnant woman was assigned a "triple test" at a period of 16-18 weeks.

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

IMPORTANT: The fewer tests and analyzes conducted, the less you can trust the result. So the "triple test", in which the level of estriol, hCG and serum alpha-fetoprotein is determined, in itself produces an error in 9% of cases.

Symptoms of Down's syndrome in a fetus can be detected on ultrasound

Test, tests for a downy pregnancy

Tests and tests for downtime will be necessary for those pregnant women whose children had a thickened collar space when performing ultrasound.

At the 16th-18th week, a blood test for hormones is performed. If this test also confirms the presence of Down's syndrome in the fetus, it will be necessary to check the anatomical fluid. This procedure is performed in a hospital and represents a puncture of the abdominal cavity of the pregnant woman and collection of amniotic fluid for analysis.

IMPORTANT: After this test, the risk of miscarriage increases manyfold. Doing or not doing it is the business of every mother. If the analysis of amniotic fluid is done late, and it confirms the presence of genetic defects in the fetus, it will not be possible to have an abortion - it will be necessary to cause premature birth.

Fecal collection of amniotic fluid for analysis of

Is Down syndrome visible on ultrasound?

If the fetus has abnormalities that indicate the likelihood of developing Down's syndrome, the doctor will find them at the time of ultrasound. The indicators by which it is possible to judge the possibility of having a syndrome are:

• the collar zone is enlarged
• the spine is split
• the nasal bone is too small
• the child's face is flat
• little fingers, underdeveloped

IMPORTANT: The results of ultrasound alone are not enough to obtain reliable results. Confirm or refute the presence of fetal Down syndrome can only results of additional examinations and analyzes.

Down syndrome shows Down syndrome

Down syndrome treatment, can Down syndrome be cured?

Down syndrome in itself is not curable, as it is, in fact, a genetic error. However, children with this syndrome are born with weakened immunity and a "set" of congenital comorbidities. Therefore, in order to avoid the development of complications, the child must constantly be monitored by a number of narrow specialists.

IMPORTANT: Despite the fact that Down's syndrome is not curable, Sun children need to be constantly engaged. Regular developmental activities, proper care and treatment contribute to the socialization of downs in the ordinary society.

Training of downs should take place in a game form and be supplemented with animal therapy( communication with animals).Such lessons give good positive results and allow children to develop intellectually.

Lessons with Down

Risk of Birth of a Child with Down Syndrome

Since Down's syndrome is a mistake, an accident in the transmission of heredity, the risk of a down birth exists for every healthy person. However, the risk is reduced in families where there is already one child-down.

Recent studies of Indian scientists led to unexpected results. It turns out that not only the age of the mother and father affect the likelihood of the birth of the Sunshine, but the age of the grandmother on the maternal line. The older she gave birth to her daughter, the greater the risk that her grandchildren will be born downstairs.

Also the probability of birth of a dawn is high with closely related links.

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

The probability of a birth of a dawn depends on the age of the mother and grandmother of the child

When is the high risk of Down syndrome for the first screening?

The first screening( no earlier than 10, but no later than 14 weeks) allows early detection of a genetic pathology in the fetus. An ultrasound is carried out and blood is taken to determine the amount of hormones. If both these studies were positive, the pregnant woman is sent for consultation to a geneticist, who in most cases prescribes two additional analyzes: chorion biopsy and amniocentesis.

These tests allow you to determine the set of chromosomes in the fetus, but their conduct can provoke miscarriage.

IMPORTANT: Down-sampling for early periods has reduced the number of newborns with this genetic anomaly to 1: 1000.

Blood test for Down syndrome definition

Is Down syndrome transmitted by inheritance?

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

IMPORTANT: If Down's syndrome is with the mother, then for her child the risk of being born with a similar genetic disorder is 50%.

Down Syndrome can be inherited

Can downdies have children?

Men of the Down in most cases can not have children. Exceptions are cases of mosaic Down's syndrome in males - their reproductive capacities persist.

Women of the Down can give birth to a child, but most often they have spontaneous abortions in the early stages.

How many years live downhill?

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

Abroad children go to ordinary childrengardens and schools, attend circles and sports sections, receive higher education. In adulthood, they easily find a job that does not require intense mental work.

They shoot in the movies and perform on stage, go in for sports and draw pictures, bring in families and raise children. In a word, they feel themselves to be full members of society. All this contributes to the prolongation of the life of these special people.

Downs live on average 50 years

Why are people with Down syndrome similar?

Similar to each other, the downs do some common features for this genetic disorder: the incision of the eyes, the size of the nose, the roundness of the face, the features of the body structure, and also the cheerful friendly disposition.

However, despite the external similarity, each of them is a person. The nature and characteristics of the development of each of these people are individual.

Prevention of Down Syndrome

The only effective preventive method of Down's syndrome in a child is the conception and birth of a baby at a young age. It is in young parents that the probability of having a child with genetic disorders is minimal.

If the mother and father of the child is older than 35 - 40 years, the woman should visit the genetics, undergo the necessary examinations and pass all the recommended tests.

IMPORTANT: When confirming that the fetus has Down syndrome, a woman will be offered to make an abortion.

Down syndrome prevention - conception and childbirth at a young age

Famous people with Down syndrome

Many people with Down syndrome have a lot of famous outstanding musicians, actors, artists and athletes. Their records and achievements surprise, delight and inspire hope in desperate relatives of people with genetic abnormalities.

The world is known:

• Pablo Pineda is an actor, the world's first man with Down syndrome who was able to graduate from
• . Stephanie Gins is an actress who starred in the film "Duo", which subsequently received many American film awards
• Michael Johnson - artist
• Sergey Makarov - Russian actor, plays at the Theater of the Simple-minded
• Ronald Jenkins - a brilliant composer, plays the synthesizer with 6 years
• Max Lewis - English actor
• Karen Gafn - sportswoman who set a world record for swimming
• Paula Sage - lawyer, sportswoman, actress
• Maria Langova - Olympic swimming champion who won gold at the Special Olympics
• Jamie Brewer is an actress who appeared in the "American horror story"

Mari Longova - Swimmer with Down Syndrome

Children with Down Syndrome in Famous People

As mentioned above, Down's syndrome is nothing more than a genetic error. And if it could be avoided or prevented, who, however famous and rich with their opportunities and connections, would do it.

However, well-known families of public people also have children of downs:

30.08.1995, the Boris Yeltsin was born to grandson Gleb with Down syndrome. Now the boy plays chess well, draws and sports

• 1.04.2012 actress Evelina Bledans gave birth to her son-down Semena. Now the boy is developing, like his absolutely healthy peers. The fact that the child will be born with deviations was learned by the parents at the 14th week of pregnancy, but there was no question of killing a child. Parents are happy and happy to raise their sunny boy
• The son of coach of the Spanish national team in football Down syndrome. Alvaro del Bosque is 25 years old and he is the team's mascot. The players loved him for his kindness and openness. Each time a guy comes with his father to train and supports his friends
• In 1997, Irina Khakamada gave birth to a special daughter Maria, who, in addition to Down's syndrome, suffered from leukemia. Now the girl learns drawing, dances and sings well

The happy family of Evelyn Bledens

Video: Evelina Bledans and her child with Down syndrome

The symbol of Down syndrome

The official symbol of people with Down syndrome is a blue-and-yellow ribbon. Those who support down syndrome or suffer from this syndrome wear a ribbon or symbol on the chest.

Symbol of Down Syndrome

March 21 International Human Day with Down Syndrome

Every year, beginning in 2005, on the 21st of the third month, the whole world celebrates the International Day of a Man with Down Syndrome. This date is not random - it symbolizes the three twenty-first chromosomes that differentiate down from ordinary people.

In Russia, this day was celebrated only in 2011.

March 21 - Day of People with Down Syndrome

IMPORTANT: The day of the dawn is celebrated in order to inform as many people as possible about the peculiarities of this genetic pathology.

If the life has disposed so that the child is destined to be born down, parents should not despair, because these children are a real gift. Abroad, rejections of newborns with Down's syndrome do not exceed 1%( in Russia - 95% of refusals), and the waiting list for adopting sun children should be taken for several years.

It's enough just to change your attitude to this genetic peculiarity, to stretch your arms towards your own happiness and to let sunlight in.

Video: Close-up. Children with Down Syndrome