Synapse Spring 2010 Genetics Research Benefits Children

Synapse Spring 2010 Genetics Research Benefits Children

Currently, Morris focuses her attention on finding the missing gene that leads to anxiety in Williams syndrome children. Once the gene that causes anxiety is identified, she said it can lead to more tailored treatment in the general population.

Working with the University of Nevada, Las Vegas biology department and its genetics core lab, Morris is able to use microarray technology to identify which genes are deleted or rearranged.

"We are sharing equipment and resources to advance research at both our institutions," she said. Morris and her team are able to look at the variation in each pair of chromosomes from a patient's mother and father, leading to new discoveries of genetic factors that influence Williams syndrome.

"Some individuals have very severe cardiovascular disease while others have only mild symptoms. We are trying to determine what genetic factors underlie the variability in order to find new ways to treat the manifestations of the condition. Discoveries regarding the underpinnings of arterial disease in Williams syndrome may have applicability to the treatment of arterial disease in the general population," said Morris.

While deletion of a portion of chromosome 7 leads to Williams syndrome, its duplication leads to a new syndrome called duplication of the Williams syndrome region, or "dup 7." The differences in children with these two related conditions are polar opposites: children with Williams syndrome are good with language abilities, but have poor fine motor skills while those with "dup 7" syndrome have good fine motor skills but poor speech and language skills.

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.

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.

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.

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 | thesabineindex.com

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.