The Arc Answers: Williams syndrome

• Estimates vary, but approximately 1 in every 7,500-20,000 people are born with Williams syndrome. Many people with Williams syndrome remain undiagnosed or are diagnosed at a late age; a blood test can confirm diagnosis.

• In the majority of cases, Williams syndrome is caused by a random deletion of approximately 25 genes on chromosome 7. Nobody is sure why this deletion occurs. However, it is possible to inherit Williams syndrome from a parent.

• Common physical characteristics include: full lips, puffy cheeks, wide mouth, long upper lip, small jaw, short stature, and a slumped posture. Behavioral characteristics include: an overly friendly demeanor and social inhibition, which can put people at risk for sexual exploitation; an interest in faces; increased sensitivity to noise; and fluctuating emotions.
• Most people with Williams syndrome have a mild to moderate intellectual disability, though their language skills are often very good. Other unique traits include: a love of music, which may be accompanied by musical ability; deficits in visual-spatial ability; poor eye-hand coordination; and an inability to detect social cues.

• People with Williams syndrome are prone to a variety of medical conditions. Though everyone’s experience is unique, it is recommended that people see a medical doctor regularly. Infants may be diagnosed with failure to thrive because of their delayed growth and difficulty feeding. Common conditions include: heart defects and vascular abnormalities, high blood pressure, immune deficiencies, hernias, and elevated levels of calcium and vitamin D, low muscle tone and joint stiffness.
• Regarding mental health, people with Williams syndrome are at increased risk for anxiety; depression; attention deficit/hyperactivity disorder (ADHD); and phobias related to noise, natural disasters,or the future.

• Due to a number of serious and progressive medical conditions, people with Williams syndrome should be seen regularly by a medical doctor. In addition, speech, occupational, and physical therapy have all proven helpful. Finally, music therapy may be appropriate as many people with Williams syndrome love music and may be musically inclined. A person’s needs and desires should be assessed on an individual basis to determine what will best allow them to meet their goals and dreams.

• Williams Syndrome Foundation: http://www.wsf.org/
• Williams Syndrome Association: http://www.williams-syndrome.org/
• Madison’s Foundation, Rare Disease Database: http://www.madisonsfoundation.org/index.php/component/option,com_mpower/Itemid,49/diseaseID,227/
• New York Times article on Williams syndrome: http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html?_r=1
• PBS Video Clip, “Friendly Genes:” http://www.pbs.org/saf/1205/video/watchonline.htm

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