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Down syndrome - causes and signs of Down syndrome

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The disease got its name in honor of the English doctor John Down, who first described this chromosomal syndrome in 1866.

A person with Down syndrome under favorable circumstances can live up to fifty years. Everything depends on many factors and the prognosis in each case will be individual.

Medicine distinguishes two main

The disease was named after the English doctor John Down, who first described this chromosomal syndrome in 1866.

A person with Down syndrome, under favorable circumstances, can live up to fifty years. Everything depends on many factors and the prognosis in each case will be individual.

Medicine distinguishes two main forms of Down syndrome:

  • translocation of the twenty-first chromosome to other chromosomes;
  • mosaic variant of Down syndrome.

Causes

The main complex of causes of Down syndrome can be reduced to the following several points:

  • The age of the child's mother is over thirty-five years.
  • Mutagenic environmental factors.
  • Regular trisomy of chromosome twenty-one (47, t21).
  • Translocation of chromosomes 14 and 21 (46, tl4/21).
  • Translocation of chromosomes 21/21 (46, t21/21).
  • Non-disjunction of these chromosomes occurs at the first stages of zygote division, in this case the karyotype looks like 47; 21+/46.
The named causes of Down syndrome are approximate. Medicine still does not know what actually contributes to the development of this disease.

Symptoms

The following points are included in the complex of symptoms of Down syndrome:

  • flattened face with a Mongoloid eye shape;
  • reduced ears;
  • small head;
  • generalized muscle hypotonia;
  • clinodactyly of the little fingers of the hand with a single flexor fold on the palms and little fingers of the hand (the so-called "primate hand");
  • atresia of the duodenum;
  • annular pancreas;
  • defects interventricular septum of the heart;
  • Hirschsprung's disease;
  • flattened facial features and back of the head;
  • short neck and limbs;
  • general muscular hypotonia;
  • heart defect;
  • pathologies of hearing and vision;
  • hypofunction of the thyroid gland;
  • obesity;
  • congenital hypothyroidism;
  • enlarged tongue;
  • small nose;
  • delayed psychomotor and physical development;
  • mental retardation;
  • short stature;
  • pathology immunity.

A child with Down syndrome rarely survives to adulthood.

Factors that affect his life expectancy:

  • malformations of the heart and large vessels;
  • malformations of the gastrointestinal tract;
  • manifestation of acute leukemia and infection.

Diagnostics

Diagnosing Down syndrome in a child is quite simple. This is done after the baby is born based on the signs characteristic of Down syndrome.

In cases where the baby was born prematurely, it is difficult to diagnose Down syndrome at first.

Laboratory tests to determine if a child has Down syndrome include:

  • Cytogenetic testing.
  • Prenatal diagnostics with a study of the karyotype of the unborn child (chorionic biopsy, cordocentesis or amniocentesis).

A woman can also be diagnosed during pregnancy that her child has abnormalities. This can be detected through ultrasound diagnostics, amniocentesis, chorionic biopsy, cordocentesis.

Treatment

There are no specially developed methods in medicine for treating this type of disease. A patient with Down syndrome is prescribed courses of nootropic and vascular drugs. It is very important for doctors to provide psychological support to the parents of such a child, to conduct educational activities for social adaptation of both the child himself and his mother and father.

Treatment of Down syndrome by dolphin therapy has proven itself well.

It is worth noting that a child with Down syndrome is often prescribed drug therapy. But this is not done for the direct treatment of this disease, but for the treatment of diseases that accompany Down syndrome. For this reason, children with Down syndrome are monitored by all doctors.

A speech therapist-defectologist should constantly work with the child.

Prevention

The following points can be attributed to the main set of preventive measures to prevent the birth of a child with Down syndrome:

  • Timely delivery in a pregnant woman after thirty-five years.
  • Screening diagnostics of Down syndrome in the early stages of pregnancy and medical and genetic counseling of older couples and individuals who have already had children with developmental defects.
  • Prescribing a course of folic acid to a pregnant woman.
05 Sep 2024, 06:56
Disease Handbook

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