The birth of a child is a great happiness for every family, parents dream that their baby is born healthy. The birth of a child with any disease becomes a serious test. Down syndrome, which occurs in one in a thousand children, is due to the presence of an extra chromosome in the body, which leads to disturbances in the mental and physical development of the child. These children have many somatic diseases.
Down’s disease is a genetic anomaly, a congenital chromosomal disease that occurs as a result of an increase in the number of chromosomes. Children with the syndrome in the future suffer from metabolic disorders and obesity, they are not dexterous, physically poorly developed, they have impaired coordination of movement. A characteristic feature of children with Down syndrome is slow development.
It is believed that the syndrome makes all children look alike, but this is not so, there are many similarities and differences between babies. They have certain physiological traits that are common to all people with Down syndrome, but they also have traits inherited from their parents and look like their sisters and brothers. In 1959, the French professor Lejeune explained what caused Down’s syndrome, he proved that this was due to genetic changes, the presence of an extra chromosome.
Usually each cell contains 46 chromosomes, half of the children receive from the mother and half from the father. A person with Down syndrome has 47 chromosomes. Three main types of chromosomal abnormalities are known in Down syndrome, such as trisomy, meaning the tripling of chromosome 21 and present in all. Occurs as a result of a violation of the process of meiosis. The translocation form is expressed by the attachment of the arm of one chromosome 21 to another chromosome; during meiosis, both move into the resulting cell.
The mosaic form is caused by violations of the mitosis process in one of the cells at the blastula or gastrula stage. Means tripling of chromosome 21, present only in derivatives of this cell. The final diagnosis in the early stages of pregnancy is made after obtaining the results of a karyotype test that provides information about the size, shape and number of chromosomes in a cell sample. It is done twice at 11-14 weeks and at 17-19 weeks of pregnancy. So you can accurately determine the cause of birth defects or disorders in the body of the unborn child.
Down syndrome symptoms in newborns
The diagnosis of Down syndrome can be made immediately after the birth of a child according to characteristic features that are visible even without genetic studies. Such children are distinguished by a small round head, a flat face, a short and thick neck with a crease at the back of the head, a Mongoloid slit in the eyes, a thickening of the tongue with a deep longitudinal furrow, thick lips, and flattened auricles with adherent lobes. Numerous white spots are noted on the iris of the eyes, increased joint mobility and weak muscle tone are observed.
The legs and arms are noticeably shortened, the little fingers on the hands are curved and provided with only two flexion grooves. The palm has one transverse groove. There is a deformity of the chest, strabismus, poor hearing and vision or their absence. Down syndrome can be accompanied by congenital heart defects, leukemia, disorders of the gastrointestinal tract, pathology of the development of the spinal cord.
In order to draw a final conclusion, a detailed study of the chromosome set is carried out. Modern special techniques allow you to successfully correct the condition of a baby with Down syndrome and adapt it to normal life. The causes of Down syndrome are not fully understood, but it is known that with age, it becomes more difficult for a woman to give birth to a healthy child.
What to do if a child with Down Syndrome is born?
If nothing can be changed, the decision of a woman to give birth to such a child is invariable and the appearance of an unusual baby becomes a fact, then experts advise mothers immediately after diagnosing a child with Down syndrome to overcome depression and do everything so that the child can serve himself. In some cases, surgical interventions are necessary to eliminate a particular pathology, this applies to the state of internal organs.
It should be carried out at 6 and 12 months, and in the future, an annual check of the functional ability of the thyroid gland. Many different special programs have been created to adapt these guys to life. From the first weeks of life, there should be close interaction between parents and the child, the development of motor skills, cognitive processes, and the development of communication. Upon reaching 1,5 years, children can attend group classes to prepare for kindergarten.
At the age of 3, having identified a child with Down syndrome in a kindergarten, parents give him the opportunity to receive additional special classes, communicate with peers. The bulk of children, of course, study in specialized schools, but general education schools sometimes accept such children.