Trisomy 21: normal performance

Trisomy - the presence of several or one extra chromosome in the chromosome set. The most common variant 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. The first to study it in practice and described by Dr. Lengdon 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 uncover the mystery of trisomy 21 only in 1959. Then it was found that the disease is of genetic origin. Copies of 21 chromosome genes 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 failure occurs, and the chromosome may not separate, so one of the parents can get an extra unit. It is worth noting that boys and girls suffer from Down syndrome the same way. The geographical position of parents also does not matter. According to statistics, for eight hundred children one suffers from trisomy 21.

Causes and risk of trisomy 21. The standard of risk indicators

The reasons for the development of Down's syndrome have not been fully understood. Scientists still argue 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. There is also a certain pattern: if the mother's age exceeds 35 years, the occurrence of this pathology increases by three percent. And the more the age of the woman giving birth, the higher the risk that the baby will have trisomy 21. Thus, the risk of having a sick child in women of twenty-five years is 1 child per 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 who have a child with this pathology, the risk of trisomy 21 in a second child is one percent.

Methods for determining chromosomal abnormalities

Every woman who plans a pregnancy, worries about the health of the future baby. Modern medicine makes it possible to recognize many pathologies of child development in the womb of the mother. As mentioned above, the expected risk of trisomy 21 multiplies with the increase in the age of the mother. Because those women, whose age is at risk, appoint screening in the first trimester of pregnancy. But not only age can become the reason why the doctor has fears that the fetus may develop trisomy 21. The rate at which the analysis is assigned:

• Congenital pathologies in past pregnancies, in particular chromosomal pathologies;
• The presence of unexplained pregnancies;
• Presence of serious congenital diseases among relatives;
• The transferred infectious diseases on early terms of pregnancy;
• Radiation exposure;
• Birth of the first child with this syndrome;
• Acceptance in the early term of drugs with teratogenic effect.

For the analysis, blood is taken, and then the test sample is placed in a special apparatus with the help of which a pathology is detected. Indirect signs also determine trisomy 21, normal indicators are taken into account on a par with other objective factors. These include: the age of the parturient, weight, the presence of fetuses, the absence or presence of bad habits, and others. And only after the full examination was carried out, all the risks were calculated, and the indicator "trisomy 21" is confirmed - the woman is invited to consult a gynecologist, where she is told about the suspicion of having Down's syndrome in a future baby. A woman may decide to terminate her pregnancy. But only the results of screening can not give a 100% diagnosis. If the analysis gives a positive result, the doctor, as a rule, appoints a puncture of the chorion.

Symptoms and signs of Down syndrome manifestation

As a rule, trisomy 21 is detected in the first minutes of a baby's life. There are a number of external signs, according to which the doctor can make this diagnosis. These include:

• Short neck, flat nose and face, small mouth, large, usually sticking out tongue, Mongoloid eye section, small deformed ears;
• Irregular sky, tongue with grooves, flat bridge of nose;
• Short and wide arms, palms with one fold, shortened phalanx of the middle finger;
• White patches on the iris of the eyes;
• 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 diseases;
• Various diseases of the gastrointestinal tract;
• The risk of cancer is much higher than in healthy people;
• deafness;
• Impaired vision ;
• apnea;
• obesity;
• Constipation;
• Infantile spasms;
• Alzheimer's disease.

Trisomy 21. Normal indicators of psycho-emotional manifestation

Perhaps the most common disorder in children who are diagnosed with this is a violation of psycho-emotional development. People with pathology of trisomy 21 are difficult to learn, they are not sociable, they can hardly master speech. Often, such children are either hyperactive, or completely unsociable. These people are very vulnerable to depression. But it should be noted that such children are very affectionate, obedient and attentive. They are also called "solar children".

Treatment of Down's Syndrome

Unfortunately, this pathology for today is incurable. The only thing that can help such people is to treat the concomitant diseases. Thus, it is possible to prolong the life of "sunny people" and improve the quality of life.

Forecast of Down's Syndrome

In recent years, the life expectancy of people with pathology in the 21 chromosomes has increased dramatically. All due to improved quality of examinations and treatment. A person with such a syndrome can qualitatively live up to fifty-five or more years. Through integration into society, people with Down syndrome can live a full life, children - go to regular schools. To date, a lot of people are known who managed to make a great contribution to public life and even become famous.

Practical advice to parents of "sunny" children

Parents who are informed that their child is sick with Down syndrome, there are many questions related to the further care and upbringing of the child. Until recently, in our society, we have been prejudiced against such people. This attitude is due to lack of information. But lately, more and more information has been received by the public about people who are somewhat different from us. Now a large number of centers are being created, in which 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 join modern society. It is important to deal not only with the child's mental development, but also with the physical. Good results are given by physical activities and occupational therapy. It is necessary to train the child to self-service. It is very important to engage in a "solar" child from infancy. There are many methods for developing such children. And if close people help the kid to cope with their own peculiarities, then the chances are that the child will not differ in anything from his peers. He can not only go to a regular school, but also get a profession, and thus become a full member of society.