The causes and symptoms of Down syndrome
Down syndrome, also called trisomy 21 -a genetic disorder leading to cognitive impairment. Pathology occurs in an average of one in eight hundred newborns. Signs of Down's syndrome are manifested in delayed development, which can be mild or moderate, the formation of characteristic features of the face, low muscle tone. People suffering from pathology often have gastrointestinal diseases, heart defects and other problems.
The name of the pathology is given in honor of Langdon Down -The doctor, who first described this disorder in 1866. The doctor could name its basic symptoms, however it was not possible to correctly determine the cause of the pathology. This happened only in 1959, when scientists found out that Down syndrome has a genetic origin. Each human cell includes 23 pairs of chromosomes, carrying the genes necessary for the normal development of the organism. 23 chromosomes are inherited through the ovule from the mother, and the pairs are 23 chromosomes inherited through the sperm from the father. But it happens that a child from one of the parents inherits additional chromosomes. When he receives two from the mother instead of one 21-th chromosome, in total (taking into account the 21-th chromosome obtained from the father), there are three of them. This causes Down syndrome.
The manifestation of the disorder can range from mild to severe forms, but most people with pathology have pronounced external characteristics. So, the external symptoms of Down syndrome include:
- flattened face, small mouth, small ears, short neck, slanting eyes;
- wide and short arms with short fingers;
- sky in the form of an arch, crooked teeth, flat bridge of the nose;
- curvature of the chest, etc.
Children with such a disorder have violationscommunication. This is manifested in the fact that they are hardly given training. And this problem persists all my life. Until now, it is not entirely clear how the superfluous 21st chromosome can influence cognitive development. In terms of size, the brain of a person with Down's syndrome is almost the same as the brain of a healthy person. But the structure of its separate regions - the cerebellum and the hippocampus - is somewhat altered. This is especially evident with respect to the hippocampus, which is responsible for memory.
The above signs of Down syndromeapproximately half of the children are also accompanied by congenital heart defects. In some cases, in order to correct defects, surgical intervention is required immediately after birth. In addition, many children with this disorder are characterized by many gastrointestinal diseases, especially tracheoesophageal fistula and atresia of the esophagus.
Children with pathology are predisposed to such diseases as:
- infantile spasms, seizures;
- otitis media;
- hearing and vision impairment;
- instability of the spine in the neck;
- hyperreactivity and attention deficit;
Treatment of Down's Syndrome
To date, ways to cure frustrationdoes not exist. It is only possible to administer concomitant disorders, for example, heart disease or gastrointestinal diseases. But the quality of life of children with this pathology can still be improved. Various methods are used for this, including speech therapy, physical therapy, occupational therapy.