Down’s syndrome

Down’s syndrome is a term that refers to a genetic anomaly. This congenital chromosomal pathology occurs due to an increased number of chromosomes. Down’s syndrome is seen in 1 out of 650 newborns. In some medical sources, this condition is called “Down’s disease”. However, the term “Down’s syndrome” is more widespread. It involves a number of symptoms and signs that were described by an English physician John Down in 1866.

Causes

In 1959 one scientist, whose name is Gerard Lejeune, established the actual cause of the syndrome — the appearance of an extra chromosome. Cells of the human body have 46 chromosomes. They contain the information about features that are given to the embryo from parents. The chromosome set consists of paired chromosomes, male and female. In children with Down’s syndrome, the 21st pair has an additional chromosome, resulting in 47 chromosomes in total. This is the main reason for the development of Down’s syndrome.

Numerous studies have proved that the development of Down’s syndrome depends on the mother’s age. Thus, most children with the disease are born by women of 33 years and older.

Symptoms

Symptoms of Down’s syndrome can be seen after the childbirth already. One can clearly see distinctive physical peculiarities: a flat face, slant eye, a fold on the upper eyelid, an irregular skull shape, a flat occiput, small ears, short lower and upper limbs, short fingers, a curved little finger. In this condition, the children quite often have cardiac defects, disrupted bone growth, low muscle tone, bad coordination and impaired intellectual functioning.

Treatment

  • Down’s syndrome is incurable. For this reason, when planning a baby, potential parents should take a proper examination. Modern methods allow to determine and rule out the risk of having a child with Down’s syndrome.
  • Most children suffering from this pathology have changes in blood and urine indicators. Enzyme activity in serum increases. The concentration of amino acids in urine and blood goes up as well. In many cases, the children suffer from serious heart rate disorders.
  • Medical therapy with certain drugs can bring good results. For example, a positive effect can be achieved by a long-term treatment with such drugs as Thyroidin, Prefizon, Niamide and others. These medicines also have a strong antidepressant action. Some of them should be taken with caution, if the patient has liver violations.

It is important to maintain good metabolism and strengthen general health of the body. Drugs that contain calcium, iron, aloe juice can do a great deal for this purpose.

Moreover, it is important to support the child psychologically on every stage of the treatment. The child should not be isolated from the society. On the opposite, communication with other children, teachers and speech therapists will promote the social adaptation.