Williams Syndrome | Diagnosis and Treatment

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How is Williams syndrome diagnosed?

In some cases, Williams syndrome may be diagnosed in infants who have heart problems, failure to thrive, slow growth or feeding problems.

In older children, Williams syndrome may be diagnosed after noticeable developmental delays involving speech and motor difficulties. Some children with Williams syndrome also have a distinct facial appearance. These attributes, when combined with specific manners or behaviors, are what usually prompt tests for Williams syndrome. 

Genetic testing is often used to confirm a diagnosis of Williams syndrome.

What are the treatment options for Williams syndrome?

There is no specific cure for Williams syndrome, so care is focused on treating specific symptoms or cardiovascular problems.

Children with Williams syndrome who have a heart defect may need heart catheterization or surgery to repair the problem, including:

  • ballooning or stenting of blood vessels 
  • patching of the aorta, coronary arteries or pulmonary arteries 
  • a hybrid approach that involves a collaboration between the interventional cardiologist and surgeon to place stents in difficult-to-reach blood vessels

Some heart problems can develop or worsen over time, so regular visits with an experienced team are recommended.

What is the long-term outlook for Williams syndrome?

The long-term outlook for children with Williams syndrome is increasingly positive. As we better understand the many elements impacting health and quality of life for those with Williams Syndrome, all are better equipped to support and successfully manage challenges as they arise. Significant progress has been made since the condition was initially recognized and, in recent decades, accurately diagnosed.

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