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About Williams Syndrome
Williams Syndrome is a rare genetic condition (estimated to occur in 1/20,000 births) which causes medical and developmental problems. Williams Syndrome is a genetic disorder that was first recognised as a distinct condition in 1961. It is present at birth, and affects males and females equally. It can occur in all ethnic groups and has been identified in countries throughout the world.
What is the cause of Williams Syndrome?
Williams Syndrome is not caused by anything the parents did or did not do either before or during pregnancy. We know that most individuals with Williams Syndrome are missing genetic material on chromosome #7 including the gene that makes the protein called elastin (a protein which provides strength and elasticity to vessel walls.) It is likely that the elastin gene deletion accounts for many of the physical features of Williams Syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals. In most families the child with Williams Syndrome is the only one to have the condition in his or her entire extended family. However, the individual with Williams Syndrome has a 50% chance of passing the disorder on to each of his or her children.
How is Williams Syndrome diagnosed?
Many individuals with Williams Syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams Syndrome can have significant and possibly progressive medical problems. When the characteristics of Williams Syndrome are recognised, referral to a clinical geneticist for further diagnostic evaluation is appropriate. The clinical diagnosis can be confirmed by a blood test. The technique known as fluorescent in situ hybridisation (FISH), a diagnostic test of the DNA, detects the elastin deletion on chromosome #7 in 95% to 98% of individuals with Williams Syndrome
Medical problems in Williams Syndrome?
Williams Syndrome can affect many different body organs. However, it is important to remember that no two individuals with Williams Syndrome have exactly the same problems. Since some of the medical problems can develop over time, it is important that individuals with Williams Syndrome receive ongoing medical monitoring and supervision. Despite the possibility of medical problems, most children and adults with Williams Syndrome are healthy and lead active, full lives.
What is the outlook for adults with Williams Syndrome?
The vast majority of adults with Williams Syndrome master self-help skills and complete academic and/or vocational school. They are employed in a variety of settings (ranging from supervised to independent jobs). Many adults with Williams Syndrome live with their parents; others live in supervised apartments or sheltered accommodation. There may be rare occasions when WS individuals are able to live on their own.
Who should care for individuals with Williams Syndrome?
Given the complex nature of many of the problems found in individuals with Williams Syndrome, many health and educational professionals should be involved in their care. Regular monitoring for potential medical problems is necessary and should be done by a physician familiar with the broad array of problems that can be seen in Williams Syndrome