Friday, May 21, 2010

Links from Children's Hospital Boston

Point of interest: It was a visiting cardiologist from Boston Children's that helped identify WS in our son here at Sick Kids Toronto.

World Hospital Directory - 16,000 Hospitals WorldWide

A fascinating study conducted by CNN for its special “Black or White: Kids on Race” series revealed that many children have racial biases very early on in life. But imagine what it would be like to not be able to recognize— or care— that someone is different? Such is the case with Williams syndrome, a rare genetic disorder that leaves those affected by it free of fear in social situations. As one mother of a child with Williams syndrome said, to her daughter, “There’s no such thing as strangers, just friends she hasn’t met yet.”

But it’s the idea of being free from racial biases has gotten attention lately. A study released last month by Current Biology suggested many children with Williams showed no signs of racial biases— or even awareness— unlike typically developing children of every other race and culture. National Public Radio recently did a string of reports on how kids with Williams syndrome and their parents struggle to function in a world that teaches children to fear the unknown.

Despite a recent show of public interest, Williams syndrome and its treatment is nothing new. For nearly two decades Children’s Hospital Boston has run a multidisciplinary clinic for people with Williams. Thrive caught up with Leslie Smoot, MD, director of Children’s Williams Syndrome Clinic, to learn more about this rare and interesting condition.

When The 'Trust Hormone' Is Out Of Balance : NPR

When The 'Trust Hormone' Is Out Of Balance : NPR

Isabelle, you see, says "I love you" to everyone: to parents at her school, to people from the neighborhood, to the salesman at Circuit City.

"Oh, all the time," Jessica says. "To Isabelle, there are no strangers — only friends she's not yet met."

The problem is that Isabelle has Williams syndrome, a rare genetic disorder with a number of symptoms. The children are often physically small and often have developmental delays. But also, kids and adults with Williams love people and are pathologically trusting: They literally have no social fear.

Researchers theorize that this is probably because of a problem with the area in their brain that regulates the manufacture and release of oxytocin. Somehow, the system in which oxytocin operates has been disrupted in a way that makes it essentially biologically impossible for kids like Isabelle to distrust.

Wednesday, May 19, 2010

Photos of WS Walk in Lynden

Medcalf Photography Blog {wedding, portrait, and senior photographer}

Married Williams Syndrome Woman Talks About Her Life

Kerrville Daily Times (Texas)

But one way in which Lora particularly stands out from many people with the disorder is in her personal life.

“I’m very happy to have Mark because a lot of people with Williams Syndrome never get married,” she said.

The couple has been married for 18 years. They met while Lora was working for Churches Chicken in Kerrville as a greeter. Mark was a ranch hand at the time and would see her when he came into town.

“She was just real friendly to everybody,” he said. “On her application to Churches, she said one of her talents was giving hugs.”

The two became familiar with each other there, but they didn’t begin dating until after seeing each other at a singles Bible group. At the time, Mark knew nothing of his future wife’s condition and just assumed she merely had an uncommonly friendly disposition. And as far as her unusual facial features, all he saw was beauty.

“She’s always been the looker,” he said.

He learned about Lora’s condition when meeting his future in-laws for the first time. Like many parents of children with Williams Syndrome, Lora’s mother and step-father were highly protective of her.

Some Williams Folks Interviewed During Their Walk for Williams in Michigan

The Williams Walk segment starts about 2:40 into the video.

Tuesday, May 18, 2010

Brooke's Story: Living With Williams Syndrome.

Brooke's Story: Living With Williams Syndrome. (Part Two)

Brooke was born with a little-understood condition known as Williams syndrome. It caused her to have emotional and mental issues, as well as accompanying physical features (small hands and feet, snub nose, very curly hair, small eyes, small stature, etc.). She is prone to temper tantrums and emotional outbursts; one minute, she can be just fine, and the next, she goes off on people by kicking, yelling, and screaming.

It is very frustrating to us because we don't know what will set her off; we just have to try to keep her calm and keep her routine as close to normal as possible. Brookie doesn't handle change very well; when one does introduce new situations to her, they have to do it gradually, or they'll have a real problem on their hands.

We are doing okay, but Brooke's outbursts can make even the simplest family outing a real chore. People tend to stare at her or say unkind remarks to us about her behavior, which, in kind, makes us uncomfortable. We are trying everything possible to help her, but it doesn't always work: Brooke has always been a very strong-willed child.

Monday, May 17, 2010

Auditory Cortical Volumes and Musical Ability in Williams Syndrome « COMD News

Auditory Cortical Volumes and Musical Ability in Williams Syndrome

Individuals with Williams syndrome (WS) have been shown to have atypical morphology in the auditory cortex, an area associated with aspects of musicality. Some individuals with WS have demonstrated specific musical abilities, despite intellectual delays. Primary auditory cortex and planum temporale volumes were manually segmented in 25 individuals with WS and 25 control participants, and the participants also underwent testing of musical abilities. Left and right planum temporale volumes were significantly larger in the participants with WS than in controls, with no significant difference noted between groups in planum temporale asymmetry or primary auditory cortical volumes. Left planum temporale volume was significantly increased in a subgroup of the participants with WS who demonstrated specific musical strengths, as compared to the remaining WS participants, and was highly correlated with scores on a musical task. These findings suggest that differences in musical ability within WS may be in part associated with variability in the left auditory cortical region, providing further evidence of cognitive and neuroanatomical heterogeneity within this syndrome.

Discovering structure in auditory input: evidence from Williams syndrome. « COMD News

Discovering structure in auditory input: evidence from Williams syndrome.

We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed that individuals with Williams syndrome were sensitive to the same pitch cues as typical children and adults when streaming these patterns. In Experiment 2, we evaluated differences in reliance on pitch and contour cues in unfamiliar melody perception in a group of adults with Williams syndrome relative to typical control children and adults. Unlike controls who demonstrated greater proficiency when contour cues were available, adults with Williams syndrome showed no such advantage.

Local boy fights Williams Syndrome - Arkadelphia, AR - Arkadelphia Siftings Herald

Local boy fights Williams Syndrome - Arkadelphia, AR

Twelve-year-old Kyle Knaak of Arkadelphia is just like every other kid his age. A fifth-grader at Peake Elementary School, he enjoys fishing, bowling, going to the mall and having a field day at an amusement park. He loves eating Happy Meals from McDonald’s, and is infatuated with trains.
Unlike other children, Kyle has not attended school since October.
But not by his choice.
At 9 months old he was diagnosed with a rare genetic disorder known as Williams Syndrome, which is caused by a deletion of a section of genes from chromosome 7.
His body cannot produce elastin, the tissue essential for organ growth. It affects Kyle’s brain, eyes, heart, kidneys, intestines and tendons — though any artery in his circulatory can be affected.
The disorder has affected his blood pressure. His mother, Holly, says it is typical for Kyle to have a blood pressure high enough to admit an average adult to a hospital’s intensive care unit. He is currently on four different medications to keep his blood pressure in check.

Walk Saturday is for Williams syndrome

Walk Saturday is for Williams syndrome | South Bend ,IN

The public is invited to join in a roughly two-mile walk Saturday to raise awareness for Williams syndrome, a genetic disorder characterized by delays, disabilities and heart trouble but also by advanced social and verbal skills.

Auditory attraction: activation of visual cortex by music and sound in Williams syndrome. « COMD News

Auditory attraction: activation of visual cortex by music and sound in Williams syndrome

We preformed functional MRI studies examining brain responses to musical and other types of stimuli in young adults with Williams syndrome and typically developing controls. In Study 1, the Williams syndrome group exhibited unforeseen activations of the visual cortex to musical stimuli, and it was this novel finding that became the focus of two subsequent studies. Using retinotopy, color localizers, and additional sound conditions, we identified specific visual areas in subjects with Williams syndrome that were activated by both musical and nonmusical auditory stimuli. The results, similar to synthetic-like experiences, have implications for cross-modal sensory processing in typical and atypical neurodevelopment.

Dunbar family walks for daughter afflicted with Williams syndrome - Pittsburgh Tribune-Review

Dunbar family walks for daughter afflicted with Williams syndrome - Pittsburgh Tribune-Review

Anna Marie Staggers just turned 5. She has a huge smile, laughs easily, has an engaging personality and a beautiful singing voice. She's starting piano lessons in the fall.

The Dunbar Township child, daughter of Brett and Cathy Staggers, has Williams syndrome, a deletion of chromosome seven, which caused her overly social personality and has given her the gift of music. It has stunted her growth and caused other challenges.

Local family brings awareness to Williams Syndrome |

Local family brings awareness to Williams Syndrome

Nineteen-year-old John Charles Lee was diagnosed with Williams Syndrome at the age of eight. The syndrome is rare and he is the only known person diagnosed with Williams in Sabine Parish.

John Charles is known all over the parish as a very friendly guy. This friendliness trait is a part of the syndrome which many people do not realize he has. He will be participating in the National Special Olympics Games in Lincoln, NE this coming July.

Tampa Bay Family on Fox News

Debby Johnson and her son, who has Williams Syndrome, joined Good Day to discuss the condition and this weekend's fundraiser to raise awareness.

Educating on Williams - | News, Sports, Jobs, Community Info. - Marshall Independent

Educating on Williams - | News, Sports, Jobs, Community Info. - Marshall Independent

When her daughter Mandi Mahoney was a little more than a year old, Penny Hastings of Marshall figured there was something wrong.

"She wasn't crawling, she didn't wave 'bye-bye,'" Hastings said. Mahoney also had a heart murmur and was taken to a pediatric cardiologist in the Twin Cities where it was learned she had Williams Syndrome, a rare condition.

This week marks the first-ever Williams Syndrome Awareness Week nationwide. Hastings said getting the word out would assist them in helping people with Williams and their families by educating communities about the abilities of those with the condition and help them to achieve their full potential.

Stanford scientists learn how brains process faces

Stanford scientists learn how brains process faces

The team ran functional magnetic resonance imaging scans on 16 adults with Williams syndrome and found their brains show an enormous amount of activity in the fusiform face area, which processes information about faces.

"Adults with Williams syndrome are also devoting about twice as much of their fusiform cortex to processing faces, compared to healthy adults," said Golijeh Golarai, a research associate in psychology. "It is a pretty significant difference."

Golarai is the lead author of a paper published this week in the Journal of Neuroscience that outlines the researchers' findings.

Because people with Williams syndrome are all missing the same genes, the researchers are using their findings to ask whether the heightened brain activity they've detected is rooted in their subjects' genetic makeup.

And the answers – which the researchers hope will come from more experiments they're planning – can help determine the degree to which genetics and experience shape social behavior in Williams syndrome, making a contribution to the "nature vs. nurture" discussion.

Youngstown News, Learn about Williams syndrome

Youngstown News, Learn about Williams syndrome

If you mention Williams syndrome to someone you know, chances are they’ve never heard of it.

It’s a rare genetic condition, occurring about once in every 10,000 births, that causes medical and developmental problems.

The Williams Syndrome Association in Troy, Mich., plans to make the public more aware of Williams syndrome and has launched a weeklong national awareness campaign that runs through Saturday that will feature fund-raising walks and other events across the country.

Two local families with children who have Williams syndrome would like to see a local awareness project developed and are interested in organizing a Mahoning Valley event in the future.

Justin Frease, son of Linda and David Frease of Boardman, was diagnosed in 1986 when he was 6 months old.

“I can tell you, back then, no one even knew about it,” said Linda Frease.

“I was overwhelmed,” she said, explaining that she didn’t know anyone else who had Williams syndrome and found the local medical community unable to provide references. Getting in touch with the national organization proved to be a major help, she said.

Prom is a triumph for Diamond

Prom is a triumph for Diamond

This moment, a dream for teens everywhere, was especially triumphant for Diamond.

She's struggled with Williams syndrome, a rare genetic condition that causes medical and developmental problems, all her life.

“She's been through a lot, more than you could ever imagine,” said her mother, Barbara Ellison of Hikes Point. “Her being here is a blessing.”

Williams syndrome occurs once in every 10,000 births and is caused by the deletion of a certain region of chromosomes. It often causes a narrowing of the heart and blood vessels, muscle and bone problems and some degree of intellectual disability.

Barbara Ellison said tests suggest that Diamond's condition is more severe than most.

At 10 months old, she had open-heart surgery. As a baby, she had chronic urinary tract infections and asthma.

She can't read or write, and she needs constant supervision.

For Diamond, the particulars of her condition are abstractions, hard to grasp and remember.

She does know that somehow, her body fails her.

“My heart,” Diamond said, patting her chest. “It keeps hurting every single day.”

Valley moms bring awareness to Williams Syndrome

Valley moms bring awareness to Williams Syndrome:

"For Nubia Garza her daughter Edie is her world, but when she found out her daughter had a rare disease called Williams Syndrome, her whole world turned upside down."

Sorry, the video would not imbed but you can click the link and watch from the news site.

Modesto child's rare syndrome teaches parents to take it step by step

Modesto child's rare syndrome teaches parents to take it step by step - Education -

It's a high point in the school day for the 11-year-old fourth grader, who is put in mainstream courses when possible and in a class for developmentally delayed students the rest of the time. And it brings a smile to the face of Julie Oliveira, Audrey's special day class teacher of two years.

"She's come a long way," Oliveira said. "Before, she wasn't able to work in groups or stay on task. Now she can. And she's a hoot. She's definitely fun to have in class."

That delightful personality and expressive speech defines Audrey, the oldest child of Dean and Sabrina Hull of Modesto. She has Williams syndrome, a rare genetic condition characterized by medical problems, developmental delays and learning disabilities. But such children also have striking verbal abilities, highly social personalities and an affinity for music.

"There are a lot of silver linings," said Sabrina.

Because the condition is so rare — about one in 10,000 births — not many people know about it. So today begins the first national Williams syndrome awareness week. The Hulls will hold a gathering Saturday for other families in Northern California affected by the syndrome.

Williams Syndrome Awareness Week on Fox News

An interview with Madison's mom... too bad they did not talk more to Madison!

Walk for Williams Awareness

Walk for Williams Awareness

The FOX 13 Care Force is to proud support the “Walk for Williams Awareness” on Saturday, May 15 at 9 a.m. at the St. Petersburg Pier.

Williams Syndrome is a rare genetic disorder that is present at birth and can affect anyone. All money raised will support critical research initiatives and programs for individuals with Williams Syndrome.

FOX 13’s Consumer Lawyer’s son Chase has Williams Syndrome. Eric is a proud parent and an advocate for the Williams Syndrome Association.

Facing the future

Facing the future

Riley is your typical kindergartner: a social butterfly, curious about the world around her and happy as can be on a perfect spring evening playing with her family in the backyard.

But even as she chases Jacob playing tag, Riley’s parents Scott and Becky explain the struggles Riley and the family have had to work through in her short six years, and look forward to the future.R

Riley Henson has Williams Syndrome, a rare genetic disorder caused by the deletion of the number seven chromosome resulting in the loss of more than 25 genes.

Walking for Williams

Walking for Williams / People News / News

Jason Anderson, 25, and Matthew Pow, 24, have lots in common.

Both love sports and music, enjoy their jobs and are good friends. They also share something else – a rare, genetic disorder called Williams Syndrome.

It’s virtually unknown to the general public, educators and many doctors. Yet it’s touched families in the local area, and Jason and Matthew are participating with them Saturday, May 15, in the first-ever Walk for Williams.

“We’re hoping to raise at least $2,000,” said Jason’s mom, Malia Anderson of Chantilly’s Armfield Farm community. “But the whole purpose is to raise awareness, even more than funds. People can just come out, walk and have fun.”

Matthew’s mother, Laurie Pow of Fairfax, near Burke Centre, agreed. Her son was diagnosed at 6 months old. “No one knew anything about it,” she said.

Now, Chantilly is among more than 35 communities across the U.S. participating in the inaugural Williams Syndrome Awareness Week, May 9-15. Area residents, plus honor and SGA students from Chantilly High and Lees Corner Elementary, will walk.

Disability can't stop her

Disability can't stop her :: Naperville Sun :: Lifestyles

Eighteen-year-old Tricia Haas of Naperville doesn't define herself by her disabilities. Instead she uses her unique gifts and charm. Haas has Williams syndrome, which commonly results in developmental delays, learning disabilities and potential medical problems. Tricia also wants to help raise awareness about the rare genetic disorder.

"I don't always understand things at first. So people have to explain them to me," said Tricia, who was diagnosed shortly after birth when she underwent heart surgery. "I explain this to people, and they understand what it's like to have my disability. It doesn't make me that different than other people."

Williams Syndrome in an Adult. Diagnosed at 57 years old.

Williams Syndrome in an Adult. Adrian J. McKenna. 2010; Journal of Cardiac Surgery - Wiley InterScience

We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered. (J Card Surg 2010;25:339-342)

Sunday, May 2, 2010

A Genetic Drive To Love, Yet Distanced By Differences : NPR

A Genetic Drive To Love, Yet Distanced By Differences : NPR

This makes it difficult not only to hold a job as an adult, but also, Pober says, to fulfill one of their most intensely felt needs: because they are compulsively social they yearn to be surrounded by dear friends.

"To me it's one of the heartbreaks, the sadnesses of Williams syndrome," Pober says. "Most are rather socially isolated."

Pober says this is because in order to get to know someone you have to do turn taking in dialogue. "You listen to what I say, I listen to what you say, and then we build on that," Pober says. "But to sustain the attention and build on the dialogue enough to really get to know someone is hard for many folks with Williams syndrome."

Pober says few people with William's syndrome marry, and even fewer have children. But this may be changing, Pober says. Now there are new social training programs for people with Williams. These new treatments might ultimately transform the long term prospects of people with William.