Down Syndrome

Down Syndrome (also known as Trisomy 21) is the most common genetic cause of mental retardation. In particular, this syndrome includes a set of symptoms that occur from birth to growth and are responsible to an extent for learning difficulties or mental retardation, as well as the development and construction of physical and external features.


The first description of the syndrome was made in 1860 by Dr. John Langdon Down, who noticed a similar physiognomy in a group of non-related institutional members. In fact, Doctor Down used the unfortunate term "Mongolian Private", or “Mongolian Idiocy” to describe both the appearance and the mental level of these children (The word “private” was translated in ancient Greek meaningas "fool").


This term was mainly adopted because of the similarity of the face and the shape of the eyes of children with Down Syndrome with those of the Mongolian race. With the data of that time, this terminology had an additional meaning, as it was argued that the farther one’s origin was from Europe was, the smaller their intelligence. Of course, this term is now considered not only scientifically non-existent but also ethically unacceptable.


What Causes Down Syndrome?

The aetiology of physical characteristics and learning difficulties of Down's syndrome was discovered, about 100 years later in 1959by French physician and pre-school teacher Jerome Lejeune. According to Lejeune, Down's syndrome is due to the fact that instead of having 46 chromosomes (23 derived from the sperm and 23 derived from the egg) they have one more, that is 47. The reason is the 21st chromosome is found 3 times instead of 2. Hence,the syndrome was classified as Trisomy 21.


In modern societies, there is often the tendency to victimize Down's syndrome. The reality, however, is very different. These children do not suffer from the syndrome, since they are neither a disease nor a disorder, but a genetic condition that occurs regardless of race, origin or ethnicity, with a frequency of approximately 1: 800 births


What are the characteristics of Down syndrome?

Children born with Down syndrome have certain physical characteristics that vary. Not all children with Down syndrome have the same characteristics. Babies with Down syndrome often have eyes that lean upward. Their eyelids may have an extra fold of skin that appears to be tilted, but this does not affect their eyesight. The back of your baby's head may be flatter than usual. Finally, many babies with Down Syndrome have a single fold across the palm of their hand. Doctors often look for this aspect as a sign that a baby is suffering from Down syndrome. It is noteworthy, however, that some babies who do not have Down Syndrome have a similar aspect. Children with Down syndrome have a certain degree of learning difficulty, but this differs greatly from child to child and it is impossible to calculate this level from birth. Children with Down syndrome develop at a slower pace, but like all children will be able to walk, talk, cycle, read and write.


Prenatal and postnatal testing

However, the new pairs are not unbroken, in the face of Down's syndrome. Nowadays, it is possible to diagnose the possible existence of the syndrome in pregnant women, even from the very early stages of pregnancy, through the so-called prenatal control.

Previously, there was the notion that prenatal screening was to be performed, in particular, in pregnant women over 35 years of age. The clinical experience of physicians, however, as well as research in the field of gynecology and pediatrics, has shown that the birth of children with Down syndrome comes from 70% of younger women.


If the syndrome is diagnosed, and if the future parents consent to it, it is possible to stop the pregnancy. Of course, for a couple toterminate their pregnancy if the syndrome is discovered, generates significant moral, scientific and social dilemmas when understanding the need for prenatal control.


The most commonly used methods for preventing DownSyndrome are those occurring during the second trimester of pregnancy, which are:

  • amniocentesis (at week 17)
  • puncture of umbilical vessels to receive embryonic blood (at week 18)
  • ultrasound
  • Biochemical screening test in pregnant serum (16th - 17th week)

Where appropriate, and always at the instigation of the gynecologist, the above methods of prenatal diagnosis can be applied during the first trimester of pregnancy.


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