The causes and symptoms of Down syndrome

Down's syndrome, also called trisomy 21, is a genetic disorder leading to cognitive impairment. Pathology occurs in an average of one in eight hundred newborns. Symptoms of Down's syndrome are manifested in a delay in 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.

Causes of Down Syndrome

The name of the pathology is given in honor of Langdon Down - a doctor who first described this disorder in 1866. The doctor was able to name his underlying symptoms, but he could not correctly determine the cause of the pathology. This happened only in 1959, when scientists found out that Down's 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.

Symptoms of 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.

Cognitive impairment

Children with this disorder have impaired communication. 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 what exactly way the superfluous 21st chromosome can influence cognitive development. In terms of size, the brain of a man 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.

Heart diseases and gastrointestinal diseases

The above signs of Down syndrome in about half of 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, for children with this disorder, many gastrointestinal diseases are characteristic, especially tracheoesophageal fistula and atresia of the esophagus.

Other violations

Children with pathology are predisposed to such diseases as:

• Hypothyroidism;
• Infantile spasms, seizures;
• Otitis media;
• Hearing and vision impairment;
• Instability of the spine in the neck;
• obesity;
• Hyperreactivity and attention deficit;
• Depression.

Treatment of Down's Syndrome

To date, there is no way to cure the disorder. 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.