The word "down" in modern society is often used as an insult. In this regard, many mothers with bated breath are waiting for the results of ultrasound, fearing alarming 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 - This genetic pathology, a congenital chromosomal abnormality. 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 signs and certain features, i.e. about the syndrome.
The very first mention of the syndrome was allegedly noted 1,500 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-Saone. The burial was no different from the usual ones, from which we can conclude that people with such disabilities 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?
About the reasons why children with Down syndrome appear, it became known only in 1959. Then the French scientist Gerard Lejeune proved the genetic condition 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. Normally, in a healthy person, there are 46 pairs of chromosomes in each cell, 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 time when the number of chromosomes in a cell ready to split is doubled. But they immediately diverge to the 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, it can “grab” another one with itself. The zygote continues to divide many times, the embryo is formed. So there are children with Down syndrome.
Syndrome Forms
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 a violation occurs when the divergence of 21 pairs of chromosomes during division.
- Translocation. This kind of Down syndrome is less common, in only 5% of cases. In this case, a part of the chromosome or the 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 most rare form of the syndrome, occurs only in 1-2% of cases. With such a violation, part of the body cells contains a normal set of chromosomes - 46, and the other part - an enlarged one, i.e. 47. Children-downs 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 a Down syndrome in a child is easy to recognize immediately after birth. The following symptoms should be noted:
- head of small size, flat nape;
- flat face, flattened nose;
- small chin, mouth, ears;
- eyes with characteristic fold and oblique incision;
- mouth is often ajar;
- short limbs, fingers, neck;
- muscle tone is weakened;
- palms wide with transverse skin (monkey) fold.
Most often, newborns with Down 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 number of tests.
What is the danger of the syndrome?
If 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;
- congenital heart defects;
- abnormal development of the chest.
For these reasons, a child down is more often susceptible to childhood infections and suffers from pulmonary diseases. In addition, his growth is conjugated with a lag in mental and physical development. The slow formation of the digestive system can lead to a decrease in the activity of enzymes and difficulties in the assimilation of food. Often a child down needs complex heart surgery. In addition, he may develop dysfunctions of other internal organs.
Sometimes timely measures can help to avoid unpleasant consequences. Therefore, timely examinations at the stage of intrauterine development of the unborn child are important.
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. The older the woman, the greater the risk of a child with an abnormality. Therefore, for mothers from 35 years old, it is very important to undergo all the necessary medical examinations at different stages of pregnancy.
However, the birth of children with Down syndrome occurs in mothers up to 25 years. It turned out 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, 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 until birth are called prenatal and are conditionally divided into two groups:
- invasive - involving surgical invasion of the amniotic fluid;
- non-invasive - without penetration into the body.
The first group of methods includes:
- Amniocentesis. Amniotic fluid is drawn with a special needle. Cells contained in this fluid are genetically examined for chromosomal abnormalities. Theoretically, the method can be dangerous for the future fetus, so not everyone is prescribed it.
- Fence of a small amount of tissue (biopsy) that makes up the fetal membrane (chorion). It is believed that the resulting material gives a more reliable result in genetic studies.
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?
You can prevent the appearance of a child with Down syndrome only before the onset of conception by genetic examination of the mother and father. Special tests will show the degree of risk of chromosomal pathology in the future fetus. In this case, many factors are taken into account - the age of the mother, father, grandmother, the presence of marriages with blood relatives, cases of the birth of down children in the family.
Having learned about the problem at an early date, the 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, since it is a genetic disease. However, there are ways to weaken its manifestations.
Children with Down Syndrome need increased care. Along with highly qualified medical care, they need proper education. For a long time they cannot learn how to take care of themselves, therefore it is necessary to instill in them these skills. In addition, they need regular classes with a speech therapist and physiotherapist. There are specially designed rehabilitation programs for such children, helping them to develop and adapt in society.
Such modern scientific development as stem cell treatment can compensate for the lag in the physical development of the child. Therapy can normalize bone growth, brain development, establish proper nutrition of internal organs, strengthen immunity. The introduction of stem cells into the baby’s body begins immediately after birth.
There is evidence of the effectiveness of long-term treatment with certain drugs. They improve metabolism and positively affect the development of a child with Down syndrome.
Down and society
It’s very difficult for children with Down syndrome to adapt in society. But at the same time, they urgently need communication. Down's children are very friendly, easy to make contact, positive, despite mood swings. For these qualities they are often called "sunny children."
In Russia, the attitude towards children suffering from a chromosomal abnormality does not differ in benevolence. A child who is lagging behind in development can 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 go to kindergarten, to school. They have difficulty finding a job. It is not easy for them to start a family, but even if they succeed, problems arise with the ability to have children. Men downs are infertile, and women have an increased risk of giving birth to sick offspring.
However, people with Down Syndrome can lead a 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.