Williams Syndrome
There is a fairly large number of congenital diseases caused by the onset of pathology at the genetic level. Among them are quite rare ailments, for example, Williams syndrome. Like most such anomalies, this disease causes abnormalities in intellectual development in a person, and also gives specific features to his appearance. It should be noted that the presence of Williams syndrome can be suspected, first of all, by the features of the structure of the face. Also, the pathology causes a number of specific symptoms, the combination of which can clearly indicate the diagnosis.
Williams syndrome, symptoms
People with Williams syndrome have unusual facial features. A wide forehead, bluish whites of the eyes, a large mouth and a specific shape of the tip of the nose make these patients look like fairy-tale characters - elves. Their intellectual development also differs in some features. Lacking the ability for abstract thinking, with difficulty mastering the basics of the exact sciences, patients with Williams syndrome amaze with the expressiveness of their speech and almost absolute ear for music. At the same time, a significant delay in speech development is quite characteristic for them in childhood.
Decreased mental capacity is far from the main problem for people with such a rare disease. In Williams syndrome, physical health is severely affected. The greatest danger to patients is represented by cardiovascular pathology, first of all, progressive aortic stenosis. This is due to metabolic disorders, as a result of which the calcium content in the blood increases significantly. Accumulating on the walls of blood vessels, it reduces their elasticity, narrows the lumen of the arteries and, in particular, the aorta. In the absence of appropriate treatment, the narrowing of large vessels gradually leads to the development of heart failure.
Williams syndrome can include abnormalities in the connective tissue that cause joint problems. Also, with such a disease, vision often suffers, the digestive and urinary systems are damaged.
Williams syndrome, causes
Any deviation in the state of health is the result of some pathological factors. Unfortunately, it is far from always possible to find out exactly what exactly leads to the onset of pathology. With Williams syndrome, the causes of which are also not fully understood, a person retains a complete paired chromosome set. The anomaly occurs at the genetic level, it consists in the loss of part of one chromosome from the seventh pair.
As a result, the missing area is not passed on to the unborn child at conception. This is why the infant develops symptoms that are characteristic of a disease such as Williams syndrome. This is due to the fact that each of the genes has its own "specialization", the absence of any of them manifests itself in a specific pattern.
Pathology most often develops spontaneously as a result of chromosome mutation at the time of conception. This indicates the congenital, but not hereditary nature of the disease. Of course, if at least one of the parents suffers from Williams syndrome, the reasons for the appearance of such an anomaly in a child are quite obvious. However, it is most often random mutations that cause the disease.
In such cases, genetic abnormalities in children, as a rule, appear due to the impact of any negative factors on their parents. This can be both professional hazards and unfavorable environmental conditions in which potential mothers and fathers live. In addition, the gene mutations that cause Williams syndrome can occur spontaneously, that is, for no apparent reason.
Williams syndrome, diagnosis and treatment
Confirmation of the presence of any genetic disease, regardless of the intensity of clinical symptoms, is possible only on the basis of the results of chromosome analysis. However, standard analysis fails to detect some anomalies. These include Williams syndrome, the diagnosis of which requires special genetic tests. They make it possible to confirm the absence of a certain region of one of the chromosomes of the seventh pair.
Williams syndrome is one of the many genetic diseases. Modern science, despite significant advances in the field of medicine, does not have the ability to affect problem chromosomes. However, people with such an anomaly usually require treatment aimed at eliminating associated pathologies. First of all, this is the normalization of calcium metabolism, which allows avoiding complications from the cardiovascular system.
Adequacy of pedagogical influence is of great importance for the neuropsychic development of children with Williams syndrome. Taking into account the peculiarities of such patients, in particular, their spontaneity and excessive sociability, it is sometimes difficult to create a sufficiently calm environment for conducting classes. First of all, it is necessary to focus on what are the strengths of children with Williams syndrome. This is a sense of rhythm and emotionality of speech, which, combined with their docile nature, allows you to "calm down" excessive importunity and direct energy in the right direction.
Williams syndrome is often unconfirmed. Often, somatic manifestations of the disease, for example, cardiovascular pathology, come to the fore. As a result, the features of appearance and deviations in mental development are far from always pronounced, recede into the background. However, the importance and necessity of correct diagnosis is beyond doubt. After all, this allows not only to correct intellectual disabilities, but also to more successfully solve purely medical problems.
The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
