There are quite a number of congenital diseases caused by the emergence of diseases at the genetic level. Some of them are quite rare diseases, such as Williams syndrome. Like most such anomalies, the disease causes abnormalities in human intellectual development, as well as its appearance gives specific features. It should be noted that the suspected presence of Williams syndrome can, primarily by structural features of the face. Also, a number of specific pathology causing the symptoms, the combination of which can clearly indicate the diagnosis.
Williams Syndrome symptoms
For people suffering from Williams syndrome, characterized by unusual facial features. Wide forehead, bluish whites of the eyes, a big mouth and a specific form of nose do these patients look like a fairy-tale characters - elves. Some features of the different and their intellectual development. Lacking the capacity for abstract thinking, difficulty mastering the basics of natural sciences, patients with Williams syndrome are striking expressiveness of his voice and almost absolute ear for music. At the same time a child is enough for them characteristic significant delay in speech development.
The decline of mental abilities - not the main problem for people with such a rare disease. When Williams syndrome is largely physical health suffers. The greatest danger to patients is cardiovascular disease in the first place, a progressive aortic stenosis. This is associated with metabolic disorders, resulting in greatly increased blood calcium content. Accumulating on the walls of blood vessels, it reduces their elasticity, the lumen narrows arteries and, in particular, the aorta. In the absence of proper treatment of large vessels narrowing gradually leads to heart failure.
Williams syndrome may include abnormalities of connective tissue that causes joint problems. Also, with such diseases often suffer from vision, damaged by the digestive and urinary systems.
Williams Syndrome, the reasons
Any deviation in health is the result of some pathological factors. Unfortunately, not always possible to find out exactly what it is that leads to pathology. When Williams syndrome, whose causes are not fully understood, a person holds the full set of paired chromosomes. The anomaly occurs at the genetic level, it is the loss of part of one chromosome of the seventh pair.
As a result, the missing section is not transmitted to the unborn baby when his conception. That's why the baby develops symptoms of the disease such as Williams syndrome. This is due to the fact that each gene has its own "specialty", the absence of any of them manifests a particular picture.
Pathology often develops spontaneously as a result of mutations of chromosomes at the time of conception. This demonstrates the innate, but not hereditary disease. Of course, if one of the parents suffers from Williams syndrome, the causes of such anomalies in the child are obvious enough. However, most disease causing mutations is random.
In such cases, genetic anomalies in children tend to appear due to the impact of any adverse factors on their parents. It can be as occupational hazards, and adverse environmental conditions, which are home to potential mothers and fathers. Furthermore, mutations which cause Williams syndrome, can arise spontaneously, ie without apparent reason.
Williams Syndrome, diagnosis and treatment
Confirmation of any genetic disease, regardless of the brightness of clinical symptoms, is possible only on the basis of the results of chromosome analysis. However, the standard analysis does not detect some anomalies. These include the Williams syndrome, the diagnosis of which requires special genetic tests. They make it possible to confirm the absence of a certain area of one of the seventh chromosome pair.
Williams Syndrome - one of many genetic diseases. Modern science, in spite of the significant advances in the medical field, has no possibility to act on the problem of the chromosome. However, people with this anomaly usually requires treatment to eliminate comorbidities. First of all, it is the normalization of calcium metabolism, allowing to avoid complications in the cardiovascular system.
Of great importance for neuro-psychological development of children with Williams syndrome have adequate pedagogical influence. Given the characteristics of these patients, in particular, their spontaneity and excessive sociability, it is sometimes difficult to establish
quite a calm environment for training. First of all, you need to focus on what are the strengths of children with Williams syndrome. It is a sense of rhythm and emotion of speech, which, combined with their sweet temper allows to "pacify" excessive intrusiveness and direct energy in the right direction.
Williams Syndrome is often unconfirmed. Often at the forefront somatic manifestations of the disease, such as cardiovascular disease. As a result, characteristics of appearance and mental retardation is not always explicit, recede into the background. However, the undoubted importance and necessity of a correct diagnosis. It's not only correct the intellectual shortcomings, but more successfully solve a purely medical problems.