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Frequently Asked Questions

Williams Syndrome Frequently Asked Questions

Frequently Asked Questions

Learn more about Williams Syndrome.

What causes Williams syndrome?

Williams syndrome is caused by a  spontaneous genetic deletion. That means it's not caused by anything the parents may have done during pregnancy or at any other time. The deletion in Williams syndrome generally includes a small stretch of 26-28 adjacent genes on chromosome 7, including the elastin gene. Usually, when someone is born with Williams syndrome, he or she is the only member of the extended family that has the condition.  But, when a person with Williams syndrome has a child, there is a 50:50 chance that each child will inherit the condition. Here in Canada, a geneticist will often request that parents are tested to rule out this rare family connection.

Did I do something to cause Williams syndrome in my child?

There is nothing you could have done, or not done, to cause your child to have Williams syndrome. Williams syndrome is typically caused by the spontaneous deletion of 26-28 genes on chromosome #7. Usually, a Williams syndrome diagnosis is the first one in a family, however, a person with Williams syndrome has a 50:50 chance of passing the disorder on to each of his or her children.

Does Williams syndrome have a cure?

Currently, Williams syndrome does not have a cure. There are  treatments (ranging from supportive care to interventions) for many medical complications of Williams syndrome, including the cardiac conditions that are often present. Early intervention, appropriate therapies and educational support optimize your child’s developmental potential and enjoyment of life.

Is there a treatment for Williams syndrome?

Williams syndrome is complex. A team of educated medical doctors and therapists should participate in your care team. Regular monitoring is important to attend to the potential health issues that are associated with the syndrome. For instance, it is not uncommon for individual with Williams syndrome to experience cardiac issues, feeding issues or slow growth as babies. Your geneticist or paediatrician will make referrals to all the relevant specialties. In addition to medical doctors, different therapies such as physiotherapy, occupational therapy, speech therapy, music therapy, specialist advice and psychological therapy can help to address some of the additional issues associated with the condition. Evidence shows the earlier intervention starts, the better the future prospects.

My child’s test confirmed Williams syndrome. Now what?

Williams syndrome is associated with a number of health concerns - some of which can be serious. You'll want to have your child evaluated for these typical issues first. For instance, you child should be referred to a cardiologist if they have not already been assessed for cardiac issues. Most children do not experience all the potential problems, nor do they experience them to the same degree.

If you haven't already done so, sign up for the Canadian Association for Williams Syndrome newsletter and reach out to our community on Facebook or connect with your provincial director.

Our family doctor or pediatrician has never had a patient with Williams syndrome – what should we do?

Williams syndrome is quite rare. Many doctors and paediatricians will never encounter a child with WS in their practice. You will find specialists at children's hospitals who have treated other patients with Williams syndrome. Whether to stay with your care provider or not is a very personal decision, but don't underestimate the value of having someone on your team who knows you and your family who is willing to learn with you on this journey.

Is Williams syndrome “genetic”?

Williams syndrome is most often caused by the spontaneous deletion of 26-28 genes on chromosome #7. Rarely, the deletion is either larger or smaller than 26-28 genes (and these patients have what is called an “atypical” Williams syndrome deletion).

Williams syndrome  it a genetic syndrome, but it is not one that is usually passed down from parents.  A Williams syndrome diagnosis is very often the first one in a family. However, a person with Williams syndrome has a 50:50 chance of passing the disorder on to each of his or her children.

Is there a range of severity in Williams syndrome?

There is a wide range of severity in Williams syndrome, but no information exists to help predict where a person will land on that spectrum. Some children have a life-threatening heart condition. Some have no heart issues at all. Some have a low average IQ, while some have greater intellectual disability. Early intervention and ongoing medical supervision can help a child reach their full potential.

What is the life span of someone with Williams syndrome?

No careful studies on life expectancy in Williams syndrome have been done. Many adults live relatively healthy lives into their 60s and 70s. However, there are issues that may limit lifespan such as heart problems, high blood pressure, gastrointestinal problems, and various endocrine problems.

As is true for many individuals with developmental disabilities, people with Williams syndrome are more vulnerable to common illnesses even if they are generally healthy, and are more likely to be injured in accidents. Therefore, the life expectancy of an individual with Williams syndrome may be shorter than the general population by approximately 10-20 years.

Can someone with Williams syndrome have children?

A person with Williams syndrome is biologically capable of having children, but there is a 50:50 chance that any child born of a parent with Williams syndrome will also have Williams syndrome.

What kind of life will my child with Williams syndrome have?

Many people with Williams syndrome live a rich life. The majority of adults with WS master self-help skills and complete academic and/or vocational school, with new programs and education opportunities popping up every year. From fulfilling volunteer work to supervised employment to independent jobs, there are many ways adults with Williams syndrome play an active role in society. Many live with their parents; others live in apartments with full time supervision or part time support and some are able to live on their own.

 

 

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