At all times children with Down's syndrome were born, but for the first time this syndrome was described by the English doctor John Down in 1886. And already the secret of this syndrome - an extra forty-seventh chromosome was discovered in 1959 by the French geneticist Jerome Lejeune. The extra chromosome is the result of a disruption in the maturation of the sex cells. This pathology is not uncommon. On average, one case for 700 newborns, but thanks to prenatal diagnosis, the birth of children with Down syndrome decreased to one in 1100 babies
The reasons are not fully established, but the doctors have identified the category of women at risk:
- Late pregnancy (the age of the mother directly affects the birth of a child with Down syndrome, since 80% of children with this syndrome are born in women of 35 years of age)
- Multiple deliveries
- The presence in the family of people with Down syndrome
- Random events during the formation of sex cells and the course of pregnancy
Medicine allows you to diagnose the presence of Down syndrome in the early stages of pregnancy. Diagnosis includes conducting tests (amniocentesis, chorion biopsy, cordocentesis), which will help to determine whether the future fetus is affected by this syndrome. To do this, the cells of pregnancy are examined under a microscope and the set of chromosomes is counted. The essence lies in the study of cells of the chorion - the future placenta or fetal epithelial cells floating in the amniotic fluid. If the fetus has forty-seven chromosomes and three of them are 21st, the future child will have Down syndrome.
Amniocentesis and chorion biopsy are considered risky examinations. In the womb, women are injected with medical instruments that can damage the walls of the uterus, the fetus, lead to a miscarriage
They are so unique that it is impossible to confuse with any other genetic disease. Children with Down syndrome are not like their parents, but they are similar to each other. Most of the symptoms are noticeable at birth, and with adulthood they are more pronounced.
- One of the symptoms is a delay in mental and physical development (people with Down's syndrome remain at the level of development of a seven-year-old child)
- Impaired bone growth (low growth of people), muscle hypotension, shortening of all fingers
- Characteristic of the presence of slanted eyes, tongue sticking out outward, a flat face and a nape
- Heart disease occurs
- Changes in dermatoglyphics ("monkey", or a four-finger fold on the palm of your hand)
- Small head, short neck and deformed ears
- Inability to reproductive function
As you know, genetic diseases do not respond to treatment, but it is possible to treat concomitant diseases, because a child with Down's syndrome is born with a whole bunch of defects. After the birth of a child, a medical examination is conducted to confirm the diagnosis and determine the related problems. The pediatrician tactfully on the second day should report a suspected diagnosis to both parents. During this period, newly-made parents especially need psychological support and help. And only after two to three weeks is the analysis of the test for detecting a karyotype - a chromosome set in a baby - becomes known. If the diagnosis is confirmed, then with first days help the baby adapt to a new life, and doctors will monitor the development of the child and the appearance of diseases characteristic for this syndrome. Follow the doctor's recommendations and take the proposed tests. If there are congenital malformations, surgical intervention is performed
The development of a child with Down's syndrome depends both on the inherent factors and on how the child is engaged. Children with this pathology are trained, but require more attention and patience in the learning process.
In children with such pathology immunity is very weakened. . They are susceptible to various infections, pneumonia, often suffer from cardiac diseases, Alzheimer's disease . Life expectancy with Down syndrome increased to fifty or more years. Many people marry. Men are mostly infertile, but women can have children.