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Williams Syndrome By Pitiporn “Nay” Duda

By at February 23, 2012 | 7:03 am | Print

Williams Syndrome (WS) is caused by the genetic disorder and may affect many parts of the body, but Williams Syndrome is inherited, although the parents and/or grandparents of each WS child may not show symptoms of WS. It happens through the reproductive cells (eggs or sperm) in a parent of an affected individual. This disease makes patients have problems with development that make them have slow development, learning problems, and heart and blood vessel (cardiovascular) problems. People with Williams Syndrome will do well on tasks that involve spoken language and music, and they are very motivated to be socially friendly. However, people with Williams Syndrome will have difficulty with visual tasks such as drawing and doing puzzles. In the United States, Williams Syndrome affects an estimated 1 in 10,000 people worldwide, and approximately 20,000 to 30,000 people have it in the U.S.A. This disease can happen in every country and in both males and females.

Symptoms: developmentally slow, delayed speech, easily distracted, inward bend of the small finger, learning disorders. People with WS have personality characteristics similar to non-WS individuals who have outgoing, engaging personalities. They are interested in music, are unusually trusting of strangers, but don’t like loud sounds or physical contact with other people. Compared with their family members, people with WS will be shorter and possess an unusual appearance of the face, similar to Down’s Syndrome patients. Further, people with Williams Syndrome have supravalvular aortic stenosis (cardiovascular disease) which is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body, and high blood calcium levels that can cause rigid muscles. Therefore, WS patients have unusually high blood pressure, as well.

Tests: First, check blood pressure. Then, a blood test can show if the patient is missing some critical chromosomes or not. This test is called the FISH test. An echocardiography can be conducted to check for the presence of supravalvular aortic stenosis. Finally, patients should have a kidney ultrasound to detect the presence of elevated calcium deposits in the kidneys.

Treatment: It is no cure for WS, but patients should avoid taking calcium and vitamin D supplements. Regularly check levels of blood calcium. Physical therapy, developmental therapy, and speech therapy can also be helpful to patients.

Prevention: Williams Syndrome is caused by a genetic disorder so there is no specific way to prevent it in the case where both prospective parents have WS-related genetic conditions. So couples should go for prenatal testing before considering pregnancy.

Reference
ADAM, . “Williams-Beuren syndrome.” . PubMed Health, 2009. Web. 17 Jan 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/>.
Williams Syndrome Association, . “Heart to heart..” What is williams syndrome?. Williams Syndrome Association, n.d. Web. 17 Jan 2012. <http://www.williams-syndrome.org/>.

 

 

 

 

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