Williams syndrome ("Elf person"): causes, symptoms, treatment

Williams Syndrome, the causes, diagnostics, treatment of which will be considered in this article, is a rather rare congenital pathology, the original cause of which has not yet been unraveled by the researchers. It was named after the cardiologist J. Williams, who described it in detail in 1961. But the first name, because of the characteristic features of the appearance of patients, is often added one more: "Elf's face".

Because of what the pathology develops

Williams syndrome ("Elf's face") is a genetic disease associated with disorders in the chromosome set of the fetus. Namely, with the loss of the site (deletion) of the seventh chromosome. The lost so-called "long arm of the chromosome" contains about 26 genes, which is associated with the characteristic features of this disorder (although for most of them the connection with the symptoms existing in the disease has not yet been established).

In addition, there are genes on the damaged chromosome that are responsible for how the brain develops and functions, and there are genes responsible for the synthesis of the elastin protein. And this leads to the fact that children with the described syndrome have not only behavioral, intellectual and psychological problems, but also vascular anomalies, as well as congenital heart defects (stenosis of the aorta and pulmonary artery, which can occur both individually and together) .

How patients with Williams syndrome look

Appearance of people who are diagnosed with Williams syndrome ("Elf's face") is characterized by special facial features:

• They have low-lying eyes, surrounded by swollen eyelids (which is especially noticeable when a person laughs);
• Big mouth with puffy lips and wrong bite;
• Very broad forehead;
• Nose short, with flat nose bridge and round blunt tip;
• Chin slightly pointed;
• Low set ears;
• Protuberant occiput;
• Bright blue eyes (eyeballs also have a bluish tinge)

The voice of such patients, as a rule, is low and husky.

But not all of the listed signs can be found in one person. For an accurate diagnosis of the disease, it is sufficient to have three typical features.

How to recognize Williams syndrome ("Elf's face")

In addition to the characteristic appearance, Williams syndrome patients also have features of the development of higher nervous functions that lead to the emergence of specific features in the psyche.

1. Violation of sensory integration (a process in which the nervous system receives signals from the sense of touch, the vestibular apparatus, the sense of smell, sight, taste and hearing). In this case, the sensitivity to sound in patients is increased.
2. Patients impulsive, easily excitable, very sociable (sometimes even obtrusive), their mood is unstable (in medicine, this feature is characterized as emotional lability).
3. They have increased anxiety, a fear of everything new.
4. Characteristic are the disturbances in the ability of pronunciation of sounds (expressive speech) and perception of what has been said (impressive speech).
5. During the training of such patients, problems with the assimilation of mathematical actions are noticeable.

At the same time, how the mental retardation in these children manifests itself is unusual. Their speech, as a rule, is well developed for their age, expressive and colored emotionally, in addition, they have obvious musical abilities: absolute hearing, excellent sense of rhythm and beautiful musical memory. They can spend a lot of time playing the musical instruments or listening to works, but they hardly concentrate on any other things.

Features of the psychology of patients with "Elf syndrome"

One of the outstanding qualities of "elves" is their communication skills. Children suffering from this syndrome, without fear approaching a stranger, easily show sympathy and are always ready to help. Their speech murmurs a stream, they are smiling and friendly. The researchers explain this peculiarity by the specificity of the work of the amygdala of their brain, because of which such people react very sharply to the good-natured expression of the person's face , and the malicious mimicry is simply not perceived.

If the baby is diagnosed with the "Elf's face" (Williams syndrome), then you should know that this will be a direct, naive child who can not take into account the situation and is prone to foolishness. And his intellectual insufficiency, he will mask under the relatively preserved speech activity and good articulation, although often such children say inappropriately, breaking the semantic side of what has been said.

A few more interesting features of the Elves

Researchers studying Williams syndrome ("Elf's face"), the causes, symptoms of this disease, found that people suffering from it have a special selectivity in perceiving visually acquired information.

So, if you show the patient a photo of a bicycle and suggest redrawing the image, then he will do it with great accuracy, not missing a single detail. True, the steering wheel, wheels and pedals will be scattered throughout the sheet. But in the case when the same task must be performed with the image of a person's face, he will be at his best, contriving, in addition, the photograph is no worse than a good psychologist to catch the character of a person.

Diseases that accompany the "Elf syndrome"

Unfortunately, the disease "Elf's face" (Williams syndrome) manifests itself in a variety of abnormalities that accompany the underlying disease. So, in children with this pathology, as a rule, teeth erupt late, and in adulthood they look elongated and sparse. In addition, patients have a tendency to caries, the bite is broken, and the folding of the mucous membrane of the cheeks is changed.

Children with this syndrome in the first years of life are very poorly gaining weight and slowly growing, but in the future many of them become full and are characterized by looseness of the body. Up to a year, babies "elves" suffer from hypoccalcemia, which develops due to increased absorption of calcium from the intestine.

In adults, a characteristic feature is the X-shaped setting of the legs, a narrow chest, a low waist and an elongated neck. Williams syndrome ("Elf's face") is often accompanied by excessive elasticity of the joints, which manifests itself in their increased extensibility, as well as flat feet and clubfoot. Various violations in the work of the musculoskeletal system are also detected. Often there are umbilical and inguinal hernia, in some patients - congenital dislocation of the hip.

How is the "Elf syndrome" treated?

Patients with a diagnosis of Williams syndrome (Elf's face) receive treatment only in the form of symptomatic therapy, since genetic diseases in our time do not have specific treatment.

For children who have entered the hospital with hypercalcemia in severe form, prescribed glucocorticoids ("Hydrocortisone"), and adult patients are usually recommended constant monitoring of calcium levels in the blood and consumption of vitamin D, under the influence of which the level of calcium increases.

Children with this syndrome require intensive training with a psychologist. Contact with healthy children also has great importance for such patients, as it creates for them a positive dynamics in overall development.

Forecast

Patients diagnosed with Williams syndrome ("Elf persons") tend to live a little less than ordinary people. Specialists attribute this to a fairly high level in the blood of calcium, leading to an early calcification of the arteries and heart muscle. And in 75% of patients, moreover, there is a narrowing of the aorta right above the heart, which in some cases requires surgical intervention. By the way, due to the high risk of developing cardiovascular diseases, the named patients are recommended regular preventive examinations.