WILLIAMS SYNDROME

Williams Syndrome is an infrequent neurodevelopmental disorder. It occurs when the gene responsible for the production of the protein elastin from chromosome 7 is eliminated.

It is elastin that accounts for the strength and the flexibility of the blood vessel walls. The disorder entails medical and developmental problems. Scientists contend that it cannot be pinned down on heredity since the chromosome abnormality hardly appears and is virtually unforeseeable.

Symptoms of Williams Syndrome

Those in whom the Williams Syndrome is present are easily recognized by a number of specific physical characteristics. These typically add up to the so-called 'elfin' facial expression. Among them are:

* the upturned nose
* the widely spaced eyes
* the wide mouth with full lips
* the small chin
* the slightly puffy cheeks
* the irregular, widely spaced teeth

Babies affected by the Williams syndrome may suffer from a low birth weight. Feeding is usually accompanied by difficulties and they put on weight with great efforts. Developmental abnormalities are present in most of the cases: children diagnosed with

Williams Syndrome may not learn to talk until they reach the age of three. One’s learning ability, similarly to coordination and balance, may become impaired, too. Children affected by the syndrome can manifest outbursts of energy during which they become too talkative, often in an improper, adult manner (known as the ‘cocktail party’ personality). At such moments their energy seems unquenchable and they hardly fall asleep.

The Williams Syndrome subjects are known for their sensitivity and remarkable kindness. It is very common for these children to welcome communication with strangers, be really eager to have contacts with adults and, on the contrary, estrange from forming relationships with their peers. They have a well developed hearing, which is why loud noises can sometimes take them aback. Williams syndrome is first indicated by a certain heart or blood vessels problem. The disorder is said to cause an area of the aorta or the pulmonary arteries to narrow, leading to a heart murmur.

This may not necessarily be that serious and may simply need to be checked regularly. However, surgical interventions are not always excluded. One should bear in mind to check blood pressure for when blood vessels are narrowed, it typically rises, which is a clear indication of the condition. In babies affected by the Williams Syndrome calcium levels may be high but they hardly remain so after the 3rd year.

Treatment Williams Syndrome

Williams syndrome can be easily found via blood tests which show whether the essential part of the chromosome 7 is missing. The Williams syndrome subjects, no matter whether grown-ups or children, can have an absolutely normal lifestyle.

Nevertheless, they should familiarize with the potential problems that may occur and address them in the best way possible. This is why, a Williams Syndrome patient should seek advice from a team of specialists, including doctors, nurses, occupational speech therapists, physiotherapists and teachers.

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