Down syndrome in newborns
The birth of a child is a great happiness for every family, parents dream of their baby being 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 caused by the presence of an extra chromosome in the body, which leads to disruptions in the mental and physical development of the child. These children develop many somatic illnesses.
The diagnosis of Down syndrome can be made immediately after the birth of a child based on characteristic features that are visible without genetic testing. Such children are distinguished by a small round head, a flat face, a short and thick neck with a fold at the back of the head, a Mongoloid cut of the eyes, a thickening of the tongue with a deep longitudinal groove, thick lips, flattened auricles with accrete lobes. Numerous white spots are noted on the iris of the eyes, there is increased mobility of the joints and weak muscle tone.
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 deformation of the chest, strabismus, poor hearing and vision, or their absence. Down syndrome can be accompanied by congenital heart defects, leukemia, gastrointestinal tract disorders, and pathology of the spinal cord development.
In order to make a final conclusion, a detailed study of the chromosome set is carried out. Modern special techniques make it possible to successfully correct the condition of a baby with Down syndrome and adapt him to a 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.
Down's disease is a genetic abnormality, 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 a violation of coordination of movement. A characteristic feature of children with Down syndrome is delayed development.
It is believed that the syndrome makes all children look alike, but it is not, 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 they are similar to their sisters and brothers. In 1959, the French professor Lejeune explained what caused Down syndrome, he proved that it was due to genetic changes, the presence of an extra chromosome.
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Typically, each cell contains 46 chromosomes, half the children get from the mother, and half from the father. A person with Down syndrome has 47 chromosomes. There are three main types of chromosomal abnormalities in Down syndrome, such as trisomy, which means the tripling of chromosome 21 and is present in all. It occurs as a result of a violation of the meiosis process. The translocation form is expressed by the attachment of the shoulder of one chromosome 21 to the other chromosome; during meiosis, both leave in the formed cell.
The mosaic form is caused by disturbances in the process of mitosis in one of the cells at the stage of blastula or gastrula. It means the tripling of chromosome 21, is present only in the derivatives of this cell. The final diagnosis in the early stages of pregnancy is made after receiving the results of a karyotype test, which provides information about the size, shape and number of chromosomes in a sample of cells. 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.
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 concerns the state of internal organs.
Should be carried out at 6 and 12 months, and in the future annually check the functional capacity of the thyroid gland. Many different special programs have been created to adapt such children to life. From the first weeks of life, there should be close interaction between parents and a child, the development of motor skills, cognitive processes, and the development of communication. Upon reaching the age of 1.5, children can attend group classes to prepare for kindergarten.
At the age of 3, having identified a child with Down syndrome in kindergarten, parents give him the opportunity to receive additional special classes, communicate with peers. Most of the children, of course, study in specialized schools, but secondary schools sometimes accept such children.
Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist
Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".
