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Understanding Williams Syndrome

Updated on March 21, 2013

Gene Deletion Profoundly Affects Mental and Physical Development

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.

Mental Characteristics of Williams Syndrome

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!

Faces of Williams Syndrome: A Video

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

Williams Syndrome Slideshow

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

In-Depth Information

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.

Video: Williams People

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

Williams Syndrome Research

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!

Video: A Chorus of Voices - Speaking about 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.

Video: A Small Child Shares...

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

Recommended Williams Syndrome Resources

The (Strangest) Song: One Father's Quest to Help His Daughter Find Her Voice
The (Strangest) Song: One Father's Quest to Help His Daughter Find Her Voice

The biography of a very talented musician, told by the father

who fought to show the world that there was more to his daughter than mental retardation

 
Understanding Williams Syndrome: Behavioral Patterns and Interventions
Understanding Williams Syndrome: Behavioral Patterns and Interventions

Practical Resources For Those Teaching a Child With Williams Syndrome

 

Video: A Child With Williams Syndrome

A mom's tribute to her little girl.

Theme Song

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?

Thoughts About Williams Syndrome?

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    • Lady Lorelei profile image

      Lorelei Cohen 5 years ago from Canada

      The videos on Williams Syndrome are so very loving and warm. I really enjoyed this special look into a syndrome I had not heard of before.

    • Aquavel profile image

      Aquavel 5 years ago

      Beautiful, informative and insightful lens. Thanks for sharing!

    • AlexiaLynn profile image

      AlexiaLynn 5 years ago

      I have never heard of this before thank you for the brilliant insight!

    • junecampbell profile image

      June Campbell 6 years ago from North Vancouver, BC, Canada

      I had not heard of Williams Syndrome previously. Thanks for helping to educate the public about this condition.

    • EuroSquid LM profile image

      EuroSquid LM 6 years ago

      Great lens! Blessed by an Angel

    • profile image

      rebeccaballard 6 years ago

      Hi Karen, what a great page! It's great to see someone writing about Williams Syndrome. We've just started caring for my sister-in-law who is an adult with Williams syndrome, with the diagnosis only recently confirmed. There seems to be more information about children than adults, so we've just created a website about it and would love you to take a look and share any experieices you or your readers have (http://williamssyndromeadult.com if any one is interested).

      Thanks again, Karen,

      Rebecca

    • profile image

      ShamanicShift 6 years ago

      This is an excellent, informative and beautiful lens covering this unusual topic thoroughly and effectively!

    • kougar lm profile image

      kougar lm 6 years ago

      Excellent lens. Thank-you for the perfectly detailed explanations.

    • nightbear lm profile image

      nightbear lm 6 years ago

      Very interesting and excellently explained. Thanks for the detail.

    • KarenHC profile image

      Karen 7 years ago from U.S.

      As a number of people have already said here, I've never heard about Williams Syndrome before -- it's fascinating! I especially like the video, "A Chorus of Voices".

    • profile image

      anonymous 7 years ago

      I had never heard of Williams syndrome until I found this lens

    • VarietyWriter2 profile image

      VarietyWriter2 7 years ago

      Another great lens by you. SquidAngel Blessings :)

    • Addy Bell profile image

      Addy Bell 7 years ago

      I'd never heard of Williams Syndrome before. It's interesting that music is dissociated from other cognitive functions; I'll have to read more about that. It certainly explains a lot about musicians :)

    • Sylvestermouse profile image

      Cynthia Sylvestermouse 7 years ago from United States

      This is an excellent, informative lens. My heart was warmed by the knowledge that the children featured here are surrounded by loving families. Very special children are often given to very special people. Angel Blessed and added to my Squid Angel Mouse Tracks lens.

    • Andy-Po profile image

      Andy 7 years ago from London, England

      Very interesting and informative article. Thanks.

    • Holley Web profile image

      Holley Web 7 years ago

      This lens has helped me to understand a lot. Though I didn't know the name WS, I know a child that fits many of these patterns. This lens was quite surprising and very informative. I agree with Alex, a big fan! Thank you for enlightening us.

    • mbgphoto profile image

      Mary Beth Granger 7 years ago from O'Fallon, Missouri, USA

      Very interesting...I had never heard of this syndrome before reading your lens. Thanks for the education.

    • drifter0658 lm profile image

      drifter0658 lm 7 years ago

      Not at all familiar with WS, although some of the patterns fit the same that my son exhibits.

      A very well written and informative article. But then again, at 6'3" and 250lbs., I may be your biggest fan.

    • profile image

      Krista_F 7 years ago

      This is amazing, and wonderfully informative. Thank you for sharing.

    • Spook LM profile image

      Spook LM 7 years ago

      To be quite honest, I had never heard of it until I read your great lens.

    • RuthCoffee profile image

      RuthCoffee 7 years ago

      Excellent information, I wasn't familiar with Williams Syndrome, so this was very interesting.

    • WhiteOak50 profile image

      WhiteOak50 7 years ago

      This is a fantastic lens!! You did an excellent job putting it together.

    • hsschulte profile image

      hsschulte 7 years ago

      Thanks for the informative lens one Williams Syndrome. The resources, education and advocacy should be helpful to many.

    • religions7 profile image

      religions7 7 years ago

      Great lens, blessed by a squidangel :)