Down Syndrome, also referred to as Trisomy 21, is a genetic disorder leading to cognitive impairment. Pathology occurs on average in one in eight hundred newborns. Signs of Down syndrome are manifested in developmental delay, which can be mild or moderate, the formation of characteristic facial features, and low muscle tone. People with 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, the doctor who first described this disorder in 1866. The doctor was able to name its underlying symptoms, but he failed to determine the cause of the pathology correctly. 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 body. 23 chromosomes are inherited through the egg from the mother, and pairs of them are 23 chromosomes inherited through the sperm from the father. But it happens that a child inherits additional chromosomes from one of the parents. When he receives two chromosomes from his mother instead of one 21st chromosome, in total (given the 21st chromosome received from his father) they become three. This causes Down syndrome.
Signs of Down Syndrome
The manifestation of the disorder can vary from mild to severe forms, but most people with pathology have pronounced external features. So, the external signs of Down syndrome include:
- flattened face, small mouth, small ears, short neck, slanting eyes ;
- wide and short hands with short fingers;
- the sky in the form of an arch, crooked teeth, a flat nose bridge;
- chest curvature , etc.
Cognitive impairment
Children with this disorder have impaired communication. This is manifested in the fact that they are difficult to learn. Moreover, such a problem persists all my life. It is still not entirely clear how exactly the extra 21st chromosome can affect cognitive development. In size, the brain of a person with Down syndrome is almost the same as the brain of a healthy person. But the structure of its separate areas - the cerebellum and the hippocampus - is somewhat changed. This is especially true for the hippocampus, which is responsible for memory.
Heart defects and gastrointestinal diseases
The signs of Down syndrome listed above in approximately 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 gastrointestinal diseases are characteristic of children with this disorder, tracheoesophageal fistula and esophageal atresia are especially common .
Other violations
Children with pathology are predisposed to diseases such as:
- hypothyroidism;
- infantile cramps, seizures;
- otitis media;
- hearing and vision impairment;
- instability of the spine in the neck;
- obesity;
- hyperreactivity and attention deficit;
- depression.
Down Syndrome Treatment
To date, there is no way to cure the disorder. You can only treat concomitant disorders, for example, heart disease or gastrointestinal diseases. But the quality of life of children with such a pathology can still be improved. For this, various methods are used, including speech therapy, physical therapy, occupational therapy.