The child is down - what does this mean? Symptoms and Symptoms of Down Syndrome

The word "down" in modern society is more often used as an insult. In this regard, many mothers with a sinking heart waiting for the results of ultrasound, afraid of anxiety symptoms. After all, a child in the family is a difficult test, requiring physical and psychological stress. So what is Down syndrome? What are its signs and symptoms?

What is Down Syndrome?

Down's Syndrome is this genetic pathology, a congenital chromosomal anomaly. It is accompanied by a deviation of certain medical indicators and a violation of normal physical development. It is important to note that the word "disease" is not applicable here, since it is a question of a set of characteristic features and certain traits, i.e. About the syndrome.

The earliest mention of the syndrome was presumably observed 1500 years ago. It is this age that is attributed to the remains of a child with signs of down syndrome found in the necropolis of the French city of Chalon-sur-Seon. The burial was no different from the usual ones, from which it can be concluded that people with similar deviations were not subjected to public pressure.

Down syndrome was first described in 1866 by a British physician John Langdon Down. Then the scientist called this phenomenon "Mongolism". After some time the pathology was named after the pioneer.

What are the reasons?

The reasons for which children with Down's syndrome appear, it became known only in 1959. Then the French scientist Gerard Lezhen proved the genetic conditionality of this pathology.

It turned out that the true cause of the syndrome is the appearance of an additional pair of chromosomes. It is formed at the stage of fertilization. In a healthy person, 46 pairs of chromosomes are in each cell, in the sex cells (egg cell and sperm cells) there are exactly half of them - 23. But during fertilization, the egg and spermatozoon merge, their genetic sets combine to form a new cell - the zygote.

Soon the zygote starts to divide. During this process, there comes a time when the number of chromosomes in the ready-to-split cell is doubled. But they immediately diverge to the opposite poles of the cell, after which it is divided in half. And here comes the error. When the 21st pair of chromosomes diverges, it can "grab" one more with them. The zygote continues to divide many times, the embryo is formed. So there are children with Down syndrome.

Forms of the syndrome

There are three forms of Down's syndrome, depending on the specific features of the genetic mechanisms of their occurrence:

• Trisomy. This is a classic case, its occurrence is 94%. Occurs when a disruption occurs when 21 pairs of chromosomes divide during division.
• Translocation. This type of Down syndrome is less common, in only 5% of cases. At the same time, a part of the 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 emergence of such a syndrome, the genetic material of the father plays a decisive role.
• Mosaicism. The most rare form of the syndrome occurs only in 1-2% of cases. With this violation, some of the cells in the body contain a normal set of chromosomes - 46, and the other part - enlarged, i.e. 47. Downstream children with a 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's syndrome in a child is easy to recognize immediately after birth. It is necessary to pay attention to the following signs:

• Head of small size, flat head;
• Flat face, flattened nose;
• Small chin, mouth, ears;
• Eyes with characteristic fold and oblique incision;
• Often a mouth is slightly opened;
• Short limbs, fingers, neck;
• Weakened muscle tone;
• The palms are wide with a transverse skin (monkey) fold.

Most often, newborns with Down's syndrome are recognized by these signs. They can be determined not only by a specialist, but also by an ordinary person. Then the diagnosis is confirmed by a more detailed examination and a series of tests.

What is the danger of the syndrome?

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

• Violation of immunity;
• Congenital heart diseases ;
• Abnormal development of the chest.

For these reasons, the child-down is more prone to childhood infections, suffers from lung diseases. In addition, its growth is With a backlog in mental and physical development. Delayed formation of the digestive system can lead to a decrease in enzyme activity and difficulty in digesting food. Often a child-down needs a complex heart operation. In addition, he may develop dysfunction of other internal organs.

Sometimes to avoid unpleasant consequences help the measures taken in time. Therefore, timely examinations are still important at the stage of intrauterine development of the unborn child.

Risk groups

On average, the incidence of Down syndrome is 1: 600 (1 child per 600). However, these indicators vary depending on many factors. Downs are often born to women after 35 years of age. The older the woman, the greater the risk of the appearance of a child with abnormalities. Therefore, it is very important for mothers of 35 years to undergo all necessary medical examinations at different stages of pregnancy.

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

Diagnostics

Today you can diagnose Down's syndrome already at the stage of pregnancy. The so-called "downstream analysis" includes a whole range of studies. All methods of diagnosis before birth are called prenatal and conditionally divided into two groups:

• Invasive - suggesting a surgical intrusion into amniotic fluid;
• Non-invasive - without penetration into the body.

The first group of methods include:

• Amniocentesis. A special needle produces a fence of amniotic fluid. Cells contained in this liquid are subjected to genetic examination for the presence of chromosomal abnormalities. Theoretically, the method can carry a risk to the future fetus, so it is not assigned to everyone.
• Fence a small amount of tissue (biopsy), which is the envelope of the fetus (chorion). It is believed that the material obtained gives a more reliable result in genetic studies.
  

The second group of methods include safer, for example, ultrasound and biochemical studies. Down syndrome on ultrasound is detected from the 12th week of pregnancy. Usually such research is combined with blood tests. If there is a risk that a woman will have a baby down, she needs to undergo a whole complex of examinations.

Can it be prevented?

Prevent the appearance of a child with Down's syndrome is possible only before the conception begins by a genetic examination of the mother and father. Special tests will show the degree of risk of occurrence of chromosomal pathology in the future fetus. At the same time, many factors are taken into account - the age of the mother, father, grandmother, presence of marriages with blood relatives, cases of the birth of children of downs in the family.

Having learned about the problem at an early date, a woman has the right to decide on her own fate. Raising a child with Down's syndrome is a very complex and time-consuming process. All his life such a child will need high-quality medical care. However, it should not be forgotten that even children with such abnormalities can fully attend school and achieve success in life.

Is there a cure?

It is believed that Down syndrome does not respond to treatment, as this is a genetic disease. However, there are ways to weaken its manifestations.

Children with Down's syndrome need increased care. Along with highly qualified medical care, they need proper upbringing. They can not learn how to take care of themselves for a long time, therefore it is necessary to teach them these skills. In addition, they need constant training with a speech therapist and physician-physiotherapist. There are specially designed rehabilitation programs for such children, helping them to develop and adapt in society.

Such modern scientific development as treatment with stem cells can compensate for the lag in the physical development of the child. Therapy can normalize the growth of bones, the development of the brain, improve the proper nutrition of internal organs, and strengthen immunity. The introduction of stem cells into the body begins immediately after birth.

There is evidence of the effectiveness of prolonged treatment with certain drugs. They improve metabolism and positively influence the development of a child with Down syndrome.

Down and Society

Children with Down's syndrome are very difficult to adapt to society. But they need communication. Children of the Downs 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 chromosomal anomalies is not good-natured. A child lagging behind in development may become a matter of ridicule among his peers, which will have a detrimental effect on his psychological development.

People with Down's syndrome will experience difficulties throughout their lives. They do not just get into kindergarten, school. They have difficulty in finding a job. It is not easy for them to start a family, but even if it succeeds, there are problems with the possibility of having children. Down men are sterile, and women have a higher risk of having a sick offspring.

However, people with Down syndrome can lead a full life. They are capable of learning, despite the fact that this process takes place at them much more slowly. Among such people there are many talented actors, for whom the Theater of the Simple-minded was created in Moscow in 1999.