Down syndrome

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Down syndrome is due to a chromosomal abnormality of the numerical type. There is an additional chromosome 21 to the karyotype. Therefore they have 47 chromosomes (47XX+21 for girls and 47XY+21 for boys). This larger number of chromosomes is the reason for different changes in the normal development of the body and the brain. This syndrome is the most common reason of birth defects with people. Usually there is one incident in 2000 conceptions. This rate is with women under the age of 25. The older the women are, the higher the chance of Down syndrome is.

In 4% of the cases except a trisomy 21 there is also another chromosomal abnormality. It occurs a translocation between chromosome 21 and chromosome 13, 14 or 15. This causes additional changes in the normal development.

Symptoms of Down syndrome

With this syndrome symptoms can vary with different people. They could be really mild or severe.

There could be growth retardation, mental retardation, hypotonia, leukemia, thyroid dysfunction, cardiac defects, decreased muscle tone. The head is smaller and with a different than the normal shape. There is a flat face and small ears. Down syndrome is characterized also by premature aging, small mouth, upward slanting eyes. The hands are short, as well the fingers. The eye has white spots on its color part.

As shown the result of this syndrome affects both outlook and the normal structure and functions of organs. For patients with Down syndrome is typical to have poor judgement, impulsive behavior, as well as a slower learning process. There are particular medical related conditions that could occur as well. Such are dislocations in the hip zone, dementia, cataracts, problems with hearing.

Treatment methods

So far there is no particular treatment, that can make these chromosomal abnormalities fade or decrease their effect on the organism. Sometimes there could be done surgeries of the heard or other systems and organs, which are affected and cause risk of death.

There are different trainings that prepare the parents and the child with Down syndrome, that to some extent helps them to go through this together and not lose their positivity and love for life.


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