Williams's syndrome

There is rather large number of the inborn diseases caused by developing of pathology at the genetic level. Among them there are also rather rare illnesses, for example, Williams's syndrome. As well as the majority of similar anomalies, this disease causes in the person of a deviation in intellectual development, and also gives to his appearance peculiar features. At the same time it should be noted that it is possible to suspect existence of a syndrome of Williams, first of all, on features of a structure of the person. Also pathology causes a number of specific symptoms which combination can accurately indicate the diagnosis.

Williams's syndrome, symptoms

Unusual features are characteristic of the people suffering from Williams's syndrome. The wide forehead, bluish whites of the eyes, a big mouth and a specific form of a tip of a nose make these patients similar to fairy tale characters – elves. Also their intellectual development differs in some features. Without having abilities to abstract thinking, hardly seizing fundamentals of the exact sciences, patients with Williams's syndrome strike with expressiveness of the speech and almost absolute ear for music. At the same time in the childhood for them there is rather characteristic a considerable delay of speech development.

Decrease in mental capacities – not the most important problem for the people having so seldom found disease. At Williams's syndrome physical health substantially suffers. The greatest danger to patients is constituted by cardiovascular pathology, first of all, the progressing aorta stenosis. It is connected with disbolism therefore in blood the content of calcium considerably increases. Accumulating on walls of vessels, it reduces their elasticity, narrows a gleam of arteries and, in particular, an aorta. In the absence of the corresponding treatment narrowing of large vessels gradually leads to development of heart failure.

Williams's syndrome can include anomalies of connecting fabric that causes problems with joints. Also at a similar disease sight often suffers, digestive and urinary systems are damaged.

Williams's syndrome, reasons

Any deviation in the state of health is a consequence of some pathological factors. Unfortunately, it is not always possible to find out absolutely precisely what leads to developing of pathology. At a syndrome of Williams which reasons are also not up to the end studied at the person full pair chromosomal complement remains. Anomaly arises at the genetic level, it consists in loss of a part of one chromosome from the seventh couple.

As a result the absent site is not transferred to future child at his conception. For this reason at the baby the symptoms characteristic of such disease as Williams's syndrome develop. It is caused by the fact that each of genes has "specialization", lack of any of them is shown by a specific picture.

Pathology most often develops spontaneously as a result of a mutation of chromosomes at the time of conception of the child. It testifies to the inborn, but not hereditary nature of a disease. Certainly, if at least one of parents suffers from Williams's syndrome, the reasons of emergence of similar anomaly in the child are rather obvious. Nevertheless, most often the disease is caused by chance mutations.

In similar cases genetic anomalies at children, as a rule, appear owing to impact of any negative factors on their parents. It can be both professional harm, and unfavorable ecological conditions in which potential mothers and fathers live. Besides, genovariations which cause Williams's syndrome are capable to arise spontaneously, that is without the visible reasons.

Williams's syndrome, diagnosis and treatment

Confirmation of existence of any genetic disease, irrespective of brightness of clinical symptoms, is possible only on the basis of results of the chromosomal analysis. However the standard analysis does not allow to find some anomalies. The syndrome of Williams which diagnosis demands conducting special genetic tests also concerns to them. They give the chance to confirm lack of a certain site of one of chromosomes of the seventh couple.

Williams's syndrome – one of numerous genetic diseases. The modern science, despite considerable achievements in the field of medicine, has no opportunity to influence problem chromosomes. However people with similar anomaly, as a rule, need the treatment directed to elimination of the accompanying pathologies. First of all, it is the normalization of calcic exchange allowing to avoid complications from cardiovascular system.

Adequacy of pedagogical influence is of great importance for psychological development of children with Williams's syndrome. Considering features of such patients, in particular, their spontaneity and excessive sociability, it is sometimes difficult to create rather quiet situation for training. First of all, it is necessary to focus attention on what is strengths of the children suffering from Williams's syndrome. This feeling of a rhythm and emotionality of the speech that in combination with their appeasable character allows "to calm down" excessive importunity and to send energy to the necessary bed.

Williams's syndrome often remains unconfirmed. Quite often to the forefront there are somatic displays of a disease, for example, cardiovascular pathology. As a result of feature of appearance and a deviation in intellectual development not always obviously expressed, recede into the background. However importance and need of the correct diagnosis is undoubted. It allows not only to adjust intellectual shortcomings, but also more successfully to solve especially medical problems.