Trisomy - the presence of several or one extra chromosome in the chromosome set. The most common option is the presence of an extra chromosome on the 13th, 18th and 21st chromosome.
Down Syndrome
The second name for this disease is trisomy 21. The first to be examined 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. To reveal the secret of trisomy 21 scientists could only in 1959. Then it was found that this disease has a genetic origin. Copies of genes 21 of the chromosome 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 goes through the egg from the mother, and the second through the sperm from the father. But sometimes a malfunction occurs, and the chromosome may not be divided, so one extra parent can get from one of the parents. It is worth noting that boys and girls suffer from Down syndrome equally. The geographic location of the parents also does not matter. According to statistics, for eight hundred children, one suffers from trisomy 21.
The causes and risk of trisomy 21. The 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 arises from the failure of numerous interactions between individual genes. And that it is not a hereditary disease. There is still a certain pattern: if the mother’s age exceeds 35 years, then the occurrence of this pathology increases by three percent. And the greater the age of the woman giving birth, the higher the risk that the baby will have trisomy 21. Thus, the risk of giving birth to a sick child in women twenty-five is 1 child for 1250 children, and after forty - 1 child for 30 newborns. It should be noted that the age of the father does not affect the onset of the disease. A woman with Down syndrome can give birth to a sick child with a probability of fifty percent, men with this disease are infertile. In parents with a child with this pathology, the risk of trisomy 21 in the second child is one percent.
Methods for determining chromosomal abnormalities
Every woman planning a pregnancy worries about the health of the unborn baby. Modern medicine allows you to recognize many pathologies of the development of the child in the womb. As mentioned above, the expected risk of trisomy 21 increases significantly with increasing age of the woman in childbirth. Therefore, those women whose age is at risk are prescribed screening in the first trimester of pregnancy. But not only age can become the reason why the doctor fears that the fetus may develop trisomy 21. The norm at which the analysis is prescribed:
- congenital pathologies in past pregnancies, in particular chromosomal pathologies;
- the presence of unwanted pregnancies;
- the presence of pregnant relatives of severe congenital diseases;
- transferred infectious diseases in early pregnancy;
- radiation exposure;
- the birth of the first child with this syndrome;
- early adoption of drugs with teratogenic effects.
For analysis, a blood sampling is carried out, and then the test sample is placed in a special apparatus, with which the presence of pathology is detected. Trisomy 21 is also determined by indirect signs, 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 full examination was carried out, all the risks were calculated, and the “Trisomy 21” indicator was confirmed - the woman was invited to consult a gynecologist, where she was told about the suspected presence of Down syndrome in the unborn baby. A woman may decide to terminate the pregnancy. But screening results alone cannot provide a 100% diagnosis. If the analysis gives a positive result, the doctor, as a rule, prescribes a chorion 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 section of the eyes, small deformed auricles;
- irregular palate, tongue with grooves, flat nose;
- short and wide arms, palms with one fold, a shortened phalanx of the middle finger;
- white spots on the iris;
- small body weight;
- very weak muscle tone;
- curvature of the chest.
Pathology of internal organs
We can say that in people who have been diagnosed with trisomy 21, the rate of concomitant diseases is as follows:
- congenital heart defects;
- various diseases of the gastrointestinal tract;
- the risk of cancer is much higher than in healthy people;
- deafness;
- visual impairment ;
- apnea;
- obesity;
- constipation
- infantile cramps;
- Alzheimer's disease.
Trisomy 21. Normal indicators of psycho-emotional manifestations
Perhaps the most common disorder in children who are diagnosed with this is a violation of psycho-emotional development. People with pathology trisomy 21 are difficult to learn, they are not sociable, they can hardly master speech. Often these 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 "sunny children."
Down Syndrome Treatment
Unfortunately, this pathology is incurable today. The only way to help such people is to treat concomitant diseases. Thus, it is possible to extend the life of “sunny people” and improve the quality of life.
Prediction of Down Syndrome
Recently, the life expectancy of people with pathology on the 21st chromosome has increased dramatically. All thanks to improved quality of examinations and treatment. A person with this syndrome can 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 regular 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 informed that their child has Down syndrome have many questions related to the further care and upbringing of the child. Until recently, our society was biased towards such people. This attitude has developed due to lack of information. But recently, more and more information has been received by society 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 deal not only with the mental development of the child, but also with the physical. Good results are given by physical activity and occupational therapy. It is necessary to educate the child to service 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 loved ones help the baby cope with their own characteristics, then it is likely that the child will be practically no different from his peers. He can not only go to a regular school, but also get a profession, which means he can become a full member of society.