Down Syndrome

Down's syndrome is a genomic pathology. In this pathology, the patient has a karyotype of forty-seven chromosomes due to trisomy over the twenty-first pair. However, other forms of this syndrome are possible. As a rule, they are caused by the harmful effects of the twenty-first pair of chromosomes on others.
The first description of Down's syndrome is dated 1866. As many have already guessed, it is named after the doctor who conducted the diagnosis. The disease was described, but its causes were established only a century later.

Down syndrome: signs

Symptoms and symptoms are actually many. Main features:

- shortened skull;
- face of flat form;
- children in the neck have a skin fold;
- the lobes of the ears are underdeveloped;
- Muscle tone is lowered;
- the nape is flattened;
- short limbs;
- underdeveloped middle phalanx of fingers;
- anomalies in the development of teeth;
- the sky has the form of an arch;
- little fingers are twisted.

This is by no means an exhaustive list, since Down syndrome has many more symptoms.

Rare signs:

- grooves in the tongue;
Flattening on the bridge of the nose;
- folds on the palms;
- A broad but short neck;
- strabismus;
- Congenital heart defect;
- deformation of the chest;
- congenital leukemia and so on.

Down Syndrome: Diagnosis

Only karyotype analysis makes it possible to accurately diagnose this syndrome. Clinical signs can help only to suspect, but in any way not to confirm the disease. Diagnosis of Down's syndrome should be carried out in a timely manner.

The syndrome in question is actually very, very rare. This is approximately one case for seven hundred genera. Today prenatal diagnosis is used, which means that the number of incidents has become even less (about one in a hundred thousand).

It can not be said that more boys or girls with Down's syndrome are born. The sex in this case has absolutely no significance. The fact is that Down's syndrome becomes more likely when the mother has reached a certain age. This age is thirty five years. Statistics argue that the probability of a sick child at this age is one to four hundred. After forty-five years the probability increases again - one to thirty-two. At once we will notice, that the age of the father here at all at what.

Diagnosis is also important because it can determine the likelihood that the second child of these same parents will have Down syndrome. In most cases, the probability is only one percent.

Down syndrome: children

Children with this syndrome lag far behind their peers in development. They can not move normally, talk, they can not be expressed logically. Of course, we are not talking about all at once, since many cases are really unique. The development of a child largely depends on how much time parents give to him. There are many techniques that can develop a child very well. It is good to talk, read, communicate, independently is - all this is taught.

The modern approach to adaptation, training, and also to care for patients who have Down syndrome, allows not only to help them to somehow adapt to the world around them, but also to live much longer. It is worth noting that today the life expectancy of people with this syndrome is fifty years.

Down Syndrome makes men infertile. The probability that a woman can have children is fifty percent. Often, patients get married with people like themselves. This allows them to somehow integrate into society. Marriages are specific, but still, as a rule, very strong. Some manage to live a really happy life.

In maternity homes, there are eighty-five percent of children with Down's syndrome.