What is Down syndrome? Down syndrome: symptoms, causes, treatment of the disease, signs during pregnancy, symbol of the syndrome

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

Often, special funny and good -natured people with slanting eyes and round faces cause others to pity or misunderstanding. But few people know that people with Down syndrome are not only disabled people who need protection and sympathy, but primarily creative, comprehensively developed, talented personalities.

What does the word down mean?

Down syndrome is named after a doctor John Downe, for the first time discovered similarities in behavior, mental capabilities and the manifestation of emotions in people with some common features of the structure of the skull and language. Officially, the disease got its name in 1965.

Since 1858, the doctor and scientist Daun worked in the Ersudan royal shelter for the insane. The purpose of his activity was to prove that classes with mentally retarded children give positive results. He became the founder of the Normansfield Development Center, created for children with genetic disorders.

Important: Dawns children are also called solar children because of their positive thinking, love for all living things, the ability to be friends, sympathize and empathize.

What is Down syndrome: symptoms, face, photo of newly related

Down syndrome is an abnormal genetic feature of the body that occurs with an increase in the number of chromosomes. Instead of 46 chromosomes, nature “endowed” these people with 47 chromosomes, namely the 21st pair has an excess chromosome.

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

The frequency of birth cases of Downes increases with the age of the mother, however, 18 years old is not safe from the manifestation of this genetic disease in their children. After 33 years, a woman has several times an increase in the risk of giving birth to Down.

There are such forms of syndrome:

• trisomy
• translocation
• mosaicism

Symptoms:

• face and nape are unnaturally flat
• a special section of the eyes
• a peculiar shape of the skull
• wide skin folds in the upper eyelid area
• unnaturally small ears
• short limbs
• the curvature of the little finger
• far back
• deep fold "cutting" palm across
• slow growth
• weak muscle tone
• bad coordination
• illegal speech
• weak mental capabilities

Important: despite the many physical features, people with Down syndrome are funny, open, naive, cheerful, kind and affectionate. Many of them have a well -developed musical hearing and there is a craving for art.

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

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

How many chromosomes does a person with Down syndrome have?

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

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

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

Why are children with Down syndrome: Reasons

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

For woman The "critical" age comes with 33-35 years when the probability of the birth of a Down rises to 1:30. For a man This danger is increasing after 42 years. This is due to the obsolescence of the female body and the deterioration of the quality of sperm in a man.

Important: smoking, alcoholism, drug addiction, asocial lifestyle does not increase the likelihood of a Down. Also, ecology, environmental temperature or weather do not affect this pathology.

Also, the reason for the birth of a child with Down syndrome is high in daow mothers (about 50%). However, in most cases they have spontaneous miscarriages in the early stages. Men-dows cannot have children.

Who has children with Down syndrome?

Children with Down syndrome can be born with absolutely healthy parents. If healthy parents have already born one child, then the probability of birth of the second Down is approximately 1%.

The older the mother, the greater the likelihood of the birth of the Down:

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

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

Down syndrome: signs during pregnancy

In the early stages, it is quite difficult to detect Down syndrome in the fetus. One of the alarm signals is the detection of an ultrasound of the subcutaneous fluid in the posterior (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 are the results of a comprehensive examination. If all of the same 11 - 13 weeks for ultrasound was revealed a pathological thickening in the collar zone and, moreover, the results of the analysis of blood serum were positive, a pregnant woman is prescribed a “triple test” for a period of 16 - 18 weeks.

In 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 tests were carried out, the less you can trust the result. So the “triple test”, at which the level of estriol, hCG and serum alpha-phytoprotein is determined, in itself gives an error in 9% of cases.

Test, tests for Down syndrome during pregnancy

Tests and tests for Down will be needed by those pregnant women whose children were found in the UPD thickened collar space.

At 16 - 18 weeks, a blood test is carried out for hormones. If this test also confirms the presence of Down syndrome in the fetus, it will be necessary to check the anatomical fluid. This procedure is carried out in a hospital and is a puncture of the abdominal cavity of a pregnant woman and a fartial fluid fence for analysis.

Important: after this analysis, the risk of miscarriage increases many times. To do or not to do it is a matter of every mother. If the analysis of amniotic fluid is done in the late stages, and it confirms the presence of genetic defects in the fetus, it will not work out, it will not be possible to cause premature birth.

Is it visible on the ultrasound of the Down syndrome in the fetus?

If the fetus has deviations indicating the likelihood of developing Down syndrome, during an ultrasound, the doctor will certainly find them. Indicators by which we can judge the possibility of having a syndrome are:

• the collar area is enlarged
• the spine is split
• the nasal bone is too small
• the child’s face is flat
• the little fingers are small, underdeveloped

Important: there are little ultrasound results alone to obtain reliable results. Only the results of additional examinations and tests can confirm or refute the presence of Down syndrome.

Down syndrome: how to medical and, is it possible to cure Down syndrome?

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

Important: despite the fact that the Down syndrome is not cured, you need to constantly deal with sunny children. Regular developmental classes, proper care and circulation contribute to the socialization of Downes in ordinary society.

The training of Downes should take place in a playful way and supplemented with elimal therapy (communication with animals). Such classes give good positive results and allow children to develop intellectually.

The risk of the birth of a child with Down syndrome

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

Recent studies of Indian scientists have led to unexpected results. It turns out that not only the age of the mother and father affect the likelihood of the birth of a solar baby, but also the age of the maternal grandmother. The at an older age she gave birth to her daughter, the higher the risk that her grandchildren will be born down downs.

Also, the probability of the birth of the Down with closely related ties.

The remaining factors do not affect the possibility of a genetic failure in the fetus.

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

The first screening (not earlier than 10, but no later than 14 weeks) allows you to suspect the presence of a genetic pathology at the early term. They conduct an ultrasound and take blood to determine the number of hormones. If both of these studies were positive, the pregnant woman is sent to consult a geneticist, who in most cases prescribes two additional analysis: chorionobiopsy and amniocentesis.

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

Important: conducting analyzes for Down in the early stages made it possible to reduce the number of newborns with this genetic anomaly to 1: 1000.

Is the Down syndrome inherited?

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

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

Can people with Down syndrome have children?

Men Downah In most cases, they cannot have children. The exception is cases of mosaic Down syndrome in male representatives - their reproductive capabilities are preserved.

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

How many years do people live with Down syndrome?

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

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

They are shot in the cinema and perform on stage, play sports and draw paintings, start families and grow children. In a word - they feel like full members of society. All this contributes to the extension of the lives of these special people.

Why are people with Down syndrome similar?

Dawns similar to each other make some of the features common to this genetic violation: eye section, nose size, face roundness, body structure, as well as cheerful friendly disposition.

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

Prevention of Down syndrome

The only effective preventive method of Down 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 the birth of a child with genetic disorders is minimal.

If the mother and father of the child are older than 35 - 40 years old, a woman should visit genetics, go through the necessary examinations and pass all the recommendations recommended.

Important: when confirming the presence of a Down syndrome, a woman will be offered to take a termination of pregnancy.

Famous people with Down syndrome

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

The whole world is known:

• Pablo Pineda - Actor, the world's first person with Down syndrome, who was able to graduate from a higher educational institution
• Stefani Gins - Actress who shot in the film "Duo", who later received many American film awards
• Michael Johnson - painter
• Sergey Makarov - Russian actor, plays in the theater of simple -minded
• Ronald Jenkins - ingenious composer, plays on the synthesizer from the age of 6
• Max Lewis - English actor
• Karen Gafni - Athlete who set a world swimming record
• Paula soot - Lawyer, athlete, actress
• Maria Langovaya - Olympic swimming champion, winning "gold" at a special Olympiad
• Jamie Brier - Actress who shot in the "American Horror History"

Children with Down syndrome in famous people

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

However, in famous families of public people, children's children are also born:

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

• 1.04. 2012 Actress Evelina Bledans She gave birth to Semyon's son-Dauna. Now the boy is developing, like his absolutely healthy peers. The fact that the child will be born with deviations, parents learned at 14 weeks of pregnancy, but there could not be a question of killing a child. Parents are happy and enjoy raising their sunny boy
• Son's coach of the Spanish national team In football, Down syndrome. Alvaro del Bosk is already 25 years old and he is a team talisman. Players love him for goodwill and openness. Each time the guy comes with his father to workout and supports his friends
• In 1997 Irina Khakamada She gave birth to a special daughter Mary, who, in addition to the trunk syndrome, suffered from leukemia. Now the girl is learning to draw, dances well and sings

Video: Evelina Bledans and her child with Down syndrome

Symbol of Down syndrome

The official symbol of people with Down syndrome is a blue-yellow ribbon. Those who support downs or suffer from this syndrome themselves wear a tape or symbol icon on their chests.

March 21 International Day with Down syndrome

Every year, starting from 2005, on the 21st of the third month, the whole world celebrates the International Day of Man with Down syndrome. This date is not chosen - it symbolizes the three twenty -first chromosomes that distinguish Downes from ordinary people.

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

Important: the Day of the Down is celebrated with the aim of informing as many people as possible about the features of this genetic pathology.

If life ordered so that the child is destined to be born down, parents should not despair, because these children are a real gift. Abroad, the rejection of newborns with Down syndrome does not exceed 1% (in Russia - 95% of the failures), and the line for the adoption of solar children must be occupied in several years.

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

Video: close -up. Children with Down syndrome