Down syndrome is one of the oldest diseases recorded in the history of mankind. The English doctor John Down described it for the first time in 1866, and because of that is called Down syndrome. They described it as a disease but they did not know from what it originated. Even somewhere in 1959, a French doctor proved that this is a chromosomal disease – a disorder of chromosome levels. In 2000, was mapped the genetic code of chromosome 21 and 29 genes of that chromosome were detected that cause the disease itself.
What is Down syndrome?
Chromosomes are the bearers of the inheritance. They are in every cell in the body. In the human body, there are 23 pairs of chromosomes, a total of 46. Each chromosome consists of two filaments. One flows from the mother, the other from the father. It is the legacy of man. Fifty percent is a genetic material of the mother’s inheritance, and fifty of the father. The Down syndrome actually means that on the 21st pair of chromosomes there is one chromosome or part of the chromosome more. That is, instead of 23 pairs, there is one pair plus. Instead of 46, there are 47 chromosomes. Depending on the level of genetic changes, there is a different manifestation of the disease itself. Some people with Down’s syndrome are noticeable immediately, and some immediately fall into our attention.
A baby with Down syndrome can be born at any time
Statistically, at 700 or one thousand births, a baby is born with Down syndrome in all countries of the world. The inheritance of this disease is only one percent somewhere. However, it is considered that there is a link between the age of parents with Down’s syndrome. At the age of 30, a baby is born per thousand with Down syndrome, 35 years of 350 babies one is with Down syndrome, and at 40 and above this age, one baby of 80. The mother over 35 and the father over 41 is in the risk group. However, this is just statistics. In reality, a baby with Down can be born anytime.
Discovery of Down syndrome
There are two ways of discovering while the baby is in the womb of the mother. It is a screening method for the wider population, which is relatively safe, i.e. triple test and echo diagnostics, and secondly diagnostic tests. Screening is for the wider population, and it is 70 percent accurate. These are relatively inexpensive and safe methods. With ultrasound screening between the 11th and the 14th week with special markers is revealed whether the baby is with Down’s syndrome. They see the neckline, the blood vessels of the heart, about 16 markers that reveal whether the baby is healthy.The diagnostic procedure is applied with chorionic biopsy in the 10th or 11th gestation week, that is, by pricking on the placenta or amniocentesis between the 18th and the 20th week, under echo control, when material is removed from the amniotic fluid and the placenta, and that material is planted on special surfaces and is processed. It is observed under a microscope and a genetic chromosome map of a baby is made. This method in 99.9 percent is correct. The negative part of this test is that it is expensive and from a chorion biopsy can have 1 to 3% abortions, while in amniocentesis, the chances of abortion are less than 0.1%. Today, both methods are made with special thin needles, to avoid unwanted complications. The latest test is NIFTY – the test, which is a non-invasive method, with great accuracy, and is examined through the mother’s blood.
People living with Down syndrome can have all or some of the following characteristics:
• Microgenia (abnormally small beard),
• Muscle hypotonia (low muscle mass),
• Flat nasal bone,
• Incorrect growth of the teeth,
• Reduced head volume,
• Characteristic wrinkles on the hands,
• Protruding tongue (as a result of the small oral cavity),
• Short neck,
• White dots on the iris,
• Heart problems,
• A large area between the first and the second toe.
Mentally viewed, people who live with this syndrome have a mental retardation that moves to the limit of:
– Mild retardation: IQ 50 to 70,
– Intermediate retardation: IQ from 35 to 50,
People who have mosaic Down syndrome have 10 to 30 points higher IQ. The medical consequences caused by this syndrome are diverse and can affect the function of any organ or body process. The health aspect of Down’s syndrome covers the prevention and anticipation of the effects caused by this condition, the recognition of the complications that result from it, the management of individual symptoms and general help for people living with Down’s syndrome and their families.
In Down’s syndrome, depending on the treatment, development can be from a severe mental retardation to mild mental, and at more recent time borderline cases. In other words, to be clear, if you start working with children diagnosed with Down syndrome from their early ages, you can achieve great results in their progress. To repeat, at the time of birth, it is not possible to see the symptoms on which a person with Down syndrome will develop during his lifetime. Some problems are present from birth, such as heart disease. Some manifest later, such as epilepsy.
The most characteristic manifestations of Down syndrome are facial features, heart disease, low growth, thyroid problems and Alzheimer’s disease. On the other hand, people who have Down syndrome are less likely to develop malignant diseases with the exception of leukemia and testicular cancer. Also, in these individuals, the possibility of diabetes and arteriosclerosis is also reduced.
Summary: In Down syndrome, there is an anomaly of the body’s (somatic) pair of chromosomes. The best prevention of this is to make amniocentesis in pregnancy, where genetically isolated cells of the baby will be examined from amniotic fluid, and if the baby’s genome is completely fine, there is no room for care and panic. And If the results are not good, abortion might be the only choice. Because if the baby is born it will be too late because there is no longer treatment or therapies.