The word "down" in modern society is more 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 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 signs and certain traits, i.e. about the syndrome.
The very first mention of the syndrome was allegedly noted 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 Châlons-sur-Saone. The burial was no different from the usual ones, from which it can be concluded that people with similardeviations 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". Some time later, 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 condition of this pathology.
It turned out that the true cause of the syndrome is the appearance of an extra pair of chromosomes. It is formed at the stage of fertilization. Normally, a he althy person has 46 pairs of chromosomes in each cell, in the germ cells (egg and sperm) 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 their genetic mechanismsoccurrence:
- 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 a child with Down syndrome is easy to recognize immediately after birth. You need to pay attention to the following signs:
- small head, flat back;
- flat face, flattened nose bridge;
- small chin, mouth, ears;
- eyes with a characteristic crease and an oblique cut;
- often open mouth;
- short limbs, fingers, neck;
- weakened muscle tone;
- palms are wide with a transverse skin (monkey) fold.
Most often newborns with Down syndromerecognized by these features. They can be determined not only by a specialist, but also by an ordinary person. The diagnosis is then confirmed by a more detailed examination and a series of tests.
How dangerous is the syndrome?
If a down was born in the family, you need to treat this with due attention. As a rule, such children, in addition to external signs, develop serious pathologies:
- impaired immunity;
- congenital heart defects;
- improper chest development.
For these reasons, a down child is more prone to childhood infections, suffers from pulmonary diseases. In addition, its growth is associated with a lag in mental and physical development. Slow formation of the digestive system can lead to a decrease in enzyme activity and difficulty in digesting food. Often a down baby needs complex heart surgery. In addition, he may develop dysfunctions of other internal organs.
Sometimes timely measures help to avoid unpleasant consequences. Therefore, timely examinations are important even at the stage of intrauterine development of the unborn child.
Risk groups
The average 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 greater the risk of having a child with disabilities. Therefore, it is very important for mothers over 35 to undergo all the necessary medical examinations at different stages of pregnancy.
However, the birth of children with Down syndrome occurs inmothers under 25. 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.
Diagnosis
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 - no penetration into the body.
The first group of methods includes:
- Amniocentesis. Amniotic fluid is taken with a special needle. The cells contained in this fluid are subjected to a genetic study for the presence of chromosomal abnormalities. Theoretically, the method can pose a danger to the unborn fetus, so it is not prescribed for everyone.
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Taking a small amount of tissue (biopsy) that makes up the fetal membrane (chorion). It is believed that the obtained material gives a more reliable result in genetic studies.
down analysis
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?
Preventthe appearance of a child with Down syndrome is possible only before the onset of conception through a genetic examination of the 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.
Having learned about the problem at an early stage, 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?
Down syndrome is believed to be untreatable as it is a genetic disorder. However, there are ways to lessen its manifestations.
Children with Down Syndrome need extra care. Along with highly qualified medical care, they need proper education. For a long time they cannot learn how to take care of themselves on their own, so it is necessary to instill in them these skills. In addition, they need constant sessions with a speech therapist and a physiotherapist. There are specially designed rehabilitation programs for these children to help them develop and adapt in society.
Such a modern scientific development as stem cell therapy can compensate for the lag in the physical development of the child. The therapy can normalize bone growth, brain development, establish proper nutrition of internal organs, and strengthen immunity. The introduction of stem cells into the child's body begins immediately after birth.
There is evidence of the effectiveness of long-term treatment with some drugs. They improve metabolism and have a positive effect on the development of a child with Down syndrome.
Down and Society
Children with Down syndrome find it very difficult 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 from a chromosomal abnormality is not distinguished by benevolence. A child with a developmental delay 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 is not easy for them to get into kindergarten, 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. Downs men are infertile, and women have an increased risk of having diseased offspring.
However, people with Down syndrome can lead full lives. 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 in 1999 was createdTheater of the Innocent in Moscow.
