williams syndrome

May is Williams Syndrome Awareness Month

WHAT IS Williams Syndrome?

Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone.  It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges.  These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7.  The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome. Accordingly, the deletion is present at the time of conception. 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.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.
Children with Williams syndrome tend to be social, friendly and endearing.  Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

But there are major struggles as well.  Many babies have life-threatening cardiovascular problems.  Children with WS need costly and ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.  As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge. As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential.  Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.

Just as important are opportunities for social interaction. As people with Williams syndrome mature – beyond the structure of school and family activities – they often experience intense isolation which can lead to depression.  They are extremely sociable and experience the normal need to connect with others; however people with Williams syndrome often don’t process nuanced social cues and this makes it difficult to form lasting relationships.
There are many physical features and medical challenges which are fairly common to Williams syndrome.  However, every child is an individual - the number of features present, and which features are present varies from child to child.
williams syndrome

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