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 in the body). It is likely that the elastin gene deletion accounts for many of the physical features of individuals with 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 withWilliams syndrome remain undiagnosed or are diagnosed at a relatively late age. This is of concern since individuals with Williams syndrome can have significant and possible 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 florescent 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.
Are medical problems frequent in Williams
Williams syndrome can affect many different organs in the body. However, it is important to remember that no two individuals 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. In countries such as the United Kingdom and the United States of America, where there are well established support groups, it is possible for most children and adults with Williams syndrome to lead healthy, active and full lives despite the possibility of medical problems.
What is the outlook
for adults with Williams Syndrome?
Where the necessary support is available, the vast majority of adults with Williams syndrome master self-help and complete academic and/or vocational school. They are employed in a variety of settings (ranging from supervised to independent jobs) This is, unfortunately, not the case in South Africa. Of the known cases worldwide, many adults with Williams syndrome live with their parents; other live in supervised apartments and some are able to live on their own.
Who should care for individuals with Williams Syndrome?
Given the complex nature 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. This kind of support is, once again, not readily available in South Africa.
Due to the intellectual "strengths and weaknesses" of individuals with Williams syndrome, the expertise of developmental psychologists, speech and language pathologists, physical and occupational therapists, etc. who are familiar with Williams syndrome is recommended and indeed essential. Such expertise is very limited in South Africa and still needs to be developed.
Who can help the families?
The Williams Syndrome Association of South Africa aims to provide members with support through annual conferences, social gatherings and regular newsletters. At this stage this is not yet happening but steps have been taken to make the medical profession more aware of Williams syndrome.