Understanding Williams Syndrome

What is Williams Syndrome? A sunny smile, a garrulous and expressive disposition, and a complex array of problems: physical, mental, and neurological.

Williams Syndrome is a microdeletion disorder, resulting from an accident of meiosis. Approximately 25 contiguous genes are deleted from chromosome 7. Those 25 genes have a profound impact on the growth and development of the brain, as well as on the body's connective tissue.

Many of the physical symptoms are the result of haploinsufficiency for a single substance: elastin. A substantial minority of Williams Syndrome patients have a severe heart defect, often SVAS, sometimes pulmonary stenosis. Several other genes in the deletion region contribute to the physiological profile. Common are irregularities of the kidneys, teeth, endocrine, and musculoskeletal systems. Young children may experience colic and hernias and often are unusually sensitive to sound. Abnormalities of muscle tone may be apparent.

It was once thought that Williams Syndrome was very rare, and that almost all 'Williams kids' had some degree of developmental delay. In an age of genetic testing, however, the face of Williams Syndrome is changing.

The disorder has sometimes been described as autistic-like... and sometimes as the polar opposite, or mirror image, of classic autism. People with Williams Syndrome tend toward narrow, focused interests and repetitive motor behaviors. However, these autistic-like behaviors are often paired with gregariousness, empathy, and excessive levels of trust. People with WS may talk locquatiously and pepper their speech with colorful expressions and less common word choices.

Children with Williams Syndrome are often overactive. They may display impaired attention processes, though the disorder is usually not classic ADHD. 'Williams kids' are more likely to have atypical patterns of focus than a pervasive lack of attention. They may have very high levels of focus -- singlemindedness even -- when it comes to their own particular interests!

Music and expressive language are frequent interests, appearing sometimes as talents and other times merely as passions. True giftedness is more apt to occur in music -- probably because music is more fully dissociated from general cognitive function. Some people with Williams Syndrome do have the coordination to play stringed instruments; others must choose different avenues to express their musicality -- singing, perhaps. Spatial sense and motor coordination tend to be quite low. A person with Williams Syndrome might get lost very easily and might have only rudimentary math skills. Stair climbing is a hard-to-master skill in childhood, and handwriting may also prove a struggle.

Anxiety is common, but it follows atypical patterns. People with WS are often fearful of illness or other harm befalling themselves or their loved ones. Social fear however, may be lacking, and, those with WS frequently barrel headlong into situations where they will be hurt. In fact, excessive trust is one reason adults generally don't live alone even when general cognitive functioning would merit it.

Developmental delay was once considered a hallmark of the syndrome. A recent study of 300 children with the full deletion found IQs ranging up to about 115. There are also short/partial deletions, which leave intact one or more genes important for cognitive function. The average IQ for the full-deletion WS tests about 30 points below that of the general population, however, and partial deletions are considered rare.

Of course, when abilities are so scattered across domains, the number the pscychiatrist assigns as IQ may ultimately have very little meaning!

Here we meet a group of US children with Williams Syndrome.

Here is another Williams Syndrome musical slideshow -- this one from Britain.

The online book below doesn't reflect the most recent genes research -- at the time STX1A (now thought to be the single most important contributor to mental retardation) was thought not to play a significant role. It is, however, a great source of information about Williams Syndrome.

Several young adults with WS share their insights in this excellent video. We hear from their parents as well.

There are so many questions about Williams Syndrome: What is the connection between WS and music/ expressive language? How severe are deficits in spatial sense -- and what forms do they take? Which genes in the deletion region are associated with significant alterations of physical or mental characteristics?

Scientists have much to learn from Williams Syndrome!

In this video, we meet young adults with Williams Syndrome and their parents. Researchers Oliver Sachs and Ursula Bellugi also share their thoughts about Williams Syndrome musicality and personal characteristics.

With words and body language, this little girl shares quite a lot about Williams Syndrome.

A mom's tribute to her little girl.

Just a song that, for me, captures a bit of the essence of Williams Syndrome: "Smile an everlasting smile... It's only words, and words are all I have..."

A personal experience, perhaps -- or just a reaction?