Trisomy - the presence of several or one extra chromosome in the chromosome set. The most common option is the presence of an extra chromosome in the 13th, 18th and 21st chromosome.
Down Syndrome
The second name of this disease is trisomy 21. It was first studied in his practice and described by Dr. Langdon Down in 1866. The doctor correctly stated the main underlying symptoms, but he could not correctly determine the cause of this syndrome. Scientists were able to reveal the secret of trisomy 21 only in 1959. Then it was found that this disease has a genetic origin. Copies of genes on chromosome 21 are responsible for the characteristics of the syndrome, namely the presence of an extra chromosome leads to such a pathology. It is known that each human cell contains twenty-three pairs of chromosomes. The first half comes from the mother's egg, and the second half from the father's sperm. But sometimes a failure occurs, and the chromosome may not separate, so one of the parents may get an extraunit. It is worth noting that boys and girls suffer from Down syndrome in the same way. The geographical location of the parents also does not matter. According to statistics, one in eight hundred children suffers from trisomy 21.
Causes and risk of trisomy 21. Norm of risk indicators
The causes of Down syndrome are not yet fully understood. Scientists are still arguing about this pathology. The only thing they agree on is that trisomy 21 results from the failure of numerous interactions between individual genes. And that it is not a hereditary disease. A certain pattern is also observed: if the mother's age exceeds 35 years, then the occurrence of this pathology increases by three percent. And the older the woman giving birth, the higher the risk that the baby will have trisomy 21. So, the risk of giving birth to a sick child in women of twenty-five years is 1 child in 1250 children, and after forty - 1 child in 30 newborns. It should be noted that the age of the father does not affect the occurrence of the disease. A woman with Down syndrome can give birth to a sick child with a fifty percent probability, men with this disease are infertile. Parents with a child with this condition have a one percent risk of trisomy 21 in their second child.
Methods for determining chromosomal abnormality
Every woman planning a pregnancy worries about the he alth of her unborn baby. Modern medicine makes it possible to recognize many developmental pathologiesthe baby is still in the womb. As mentioned above, the expected risk of trisomy 21 increases many times with the age of the woman in labor. Therefore, those women whose age is at risk are prescribed screening in the first trimester of pregnancy. But not only age can be the reason why the doctor has concerns that the fetus may develop trisomy 21. The norm at which the analysis is prescribed:
- congenital abnormalities in past pregnancies, in particular chromosomal abnormalities;
- presence of miscarriages;
- the presence of severe congenital diseases in pregnant relatives;
- past infectious diseases in early pregnancy;
- radiation exposure;
- the birth of the first child with this syndrome;
- Early use of teratogenic drugs.
For analysis, blood is taken, and then the test sample is placed in a special apparatus, with the help of which the presence of pathology is detected. By indirect signs, trisomy 21 is also determined, normal indicators are taken into account along with other objective factors. These include: the age of the woman in labor, weight, the presence of fetuses, the absence or presence of bad habits, and others. And only after a complete examination was carried out, all the risks were calculated, and the “trisomy 21” indicator is confirmed - the woman is invited for a consultation with a gynecologist, where she is told about the suspicion of having Down syndrome in the unborn baby. A woman may decide to terminate the pregnancy. But only onescreening results cannot give a 100% diagnosis. If the test is positive, the doctor usually prescribes a chorionic puncture.
Symptoms and signs of Down syndrome
As a rule, trisomy 21 is detected in the first minutes of a baby's life. There are a number of external signs by which the doctor can make this diagnosis. These include:
- short neck, flattened nose and face, small mouth, large, usually protruding tongue, Mongoloid eyes, small deformed ears;
- wrong palate, grooved tongue, flat nose bridge;
- short and wide arms, palms with one crease, a shortened phalanx of the middle finger;
- white spots on the iris;
- small body weight;
- very weak muscle tone;
- chest curvature.
Pathology of internal organs
It can be said that in people who have been diagnosed with trisomy 21, the rate of comorbidities is:
- congenital heart defects;
- various diseases of the gastrointestinal tract;
- the risk of cancer is much higher than in he althy people;
- deafness;
- visual impairment;
- apnea;
- obesity;
- constipation;
- infantile spasms;
- Alzheimer's disease.
Trisomy 21. Normal psycho-emotional manifestations
Probably the mosta common disorder in children who have been diagnosed with this is a violation of psycho-emotional development. People with trisomy 21 pathology are difficult to learn, they are not sociable, they hardly master speech. Often such children are either hyperactive or completely unsociable. These people are very susceptible to depression. But it should be noted that such children are very affectionate, obedient and attentive. They are also called "solar children".
Down syndrome treatment
Unfortunately, this pathology is currently incurable. The only way to help such people is to treat concomitant diseases. In this way, you can extend the life of "sunny people" and improve the quality of life.
Down Syndrome Prediction
Recently, the life expectancy of people with pathology in the 21st chromosome has increased dramatically. All thanks to the improvement in the quality of examinations and treatment. A person with this syndrome can qualitatively live up to fifty-five years or more. Thanks to integration into society, people with Down syndrome can live a full life, children can go to ordinary schools. To date, there are quite a lot of people who have managed to make a great contribution to public life and even become famous.
Practical advice for parents of "sunny" children
Parents who are told that their child has Down syndrome have many questions related to the further care and upbringing of the child. Until recently in oursociety is prejudiced against such people. This attitude has developed due to a lack of information. But recently, society has received more and more information about people who are somewhat different from us. Now a large number of centers are being created where parents with their "sunny children" can come. In them, they not only share their successes and experiences, but also teach children to adapt to everyday difficulties and integrate into modern society. It is important to engage not only in the mental development of the child, but also in the physical. Good results are obtained by physical activity and occupational therapy. Children need to be taught to take care of themselves. It is very important to deal with a "sunny" child from infancy. There are many methods for the development of such children. And if close people help the baby cope with his peculiarity, then it is likely that the child will practically not differ from his peers. He can not only go to a regular school, but also get a profession, which means becoming a full-fledged member of society.
