Wednesday, February 25, 2009

Madison musician debuts on MTV show

Madison musician debuts on MTV show- The New Haven Register - Serving Greater New Haven, CT:

"A Daniel Hand High School graduate who attended public schools in Fairfield and Madison, LeMieux was not diagnosed with Williams syndrome until age 12. He said he was bullied by some who didn’t understand him.

The camaraderie among castmates and the celebrities is part of what makes “How’s Your News?” special, LeMieux-Pocock said, even though some viewers might not know what to make of the program at first.

“I certainly watched Brendan navigate the public schools where inclusion absolutely didn’t always translate to social inclusion,” she said. “Here, he can be himself, and people either get it or they don’t.”

Now, people with disabilities frequently contact LeMieux online, and his work with fellow reporters on “How’s Your News?” has helped solidify his goal of helping people with disabilities through music.

“I’ve found people that I can really relate to and I see them as a family now,” he said. “I don’t feel embarrassed to tell people I have a disability.”

The show also has made him less self-conscious about his condition, he said.

“I’m reserved but it’s helped me also to break out of my shell,” he said of the show. “Once (viewers) get to know me they will see I am just a person who maybe has a health problem.”

“How’s Your News?” airs at 10:30 p.m. Sundays on MTV.

Thursday, February 19, 2009

James Moore: How's Your News?

James Moore: How's Your News?:

"That question is now the title of an MTV program that turns loose people like Jeremy Vest to ask questions and enable those of us without the privilege of their perspective to see who and what they perceive and know. Trey Parker and Matt Stone of South Park fame saw an edited version of Bradford's work with Jeremy and his friends and they decided to become executive producers of How's Your News? on MTV. In the show, my friend Jeremy, the excitable boy, and his friends, travel the country to red carpet events and political conventions and anything else that grabs their attention so they can meet and interview the bold-faced names of our culture. And they show us what it is like to be who they are."

Monday, February 16, 2009

Abnormal Cortical Complexity and Thickness Profiles Mapped in Williams Syndrome

pdf Link to Whole Paper (with colour illustrations)

We identified and mapped an anatomically localized failure of cortical maturation in Williams syndrome (WS), a genetic condition associated with deletion of 20 contiguous genes on chromosome 7. Detailed three-dimensional (3D) maps of cortical thickness, based on magnetic resonance imaging (MRI) scans of 164 brain hemispheres, identified a delimited zone of right hemisphere perisylvian cortex that was thicker in WS than in matched controls, despite pervasive gray and white matter deficits and reduced total cerebral volumes.

Long Island Fundraiser Expected to Exceed all Expectations

Long Island News - Long Island Fundraiser Expected to Exceed all Expectations | Long Island Press Releases:
"Over 600 guests expected at Long Island Gala to support families affected by Williams Syndrome; Volunteers beat the odds and celebrate an outpouring of support for the Williams Syndrome Association

(Great Neck, N.Y.) What was expected to be a small-scale event - dinner and dancing for 200 people, has turned into a sold out gala for more than 640 people! The attendees, many of whom had never heard of Williams syndrome, will gather to support the programs of the Williams Syndrome Association (WSA) at Leonard’s of Great Neck on February 21st. Guests will be invited to participate in several auctions and fundraising opportunities prior to dinner and live entertainment provided in part by adults with Williams syndrome. The evening’s theme is “Celebrate the Children in our Hearts.”"

Thursday, February 12, 2009

Two Genes Influence Social Behavior, Visual-spatial Performance In People With Williams Syndrome

Two Genes Influence Social Behavior, Visual-spatial Performance In People With Williams Syndrome

Two genes in particular, GTF2IRD1 and GTF2I, caught Korenberg's eye. Both encode transcription factors that help regulate the activity of other genes. Although their exact function is unknown, the genes are active in many body tissues and appear to be particularly important in regulating brain and skeletal muscle genes.

In earlier studies, Korenberg and her collaborators linked both GTF2I and GTF2IRD1 to deficits in visual-spatial processing, a hallmark of Williams Syndrome. The researchers are now dissecting the genes' roles even more. "Further parsing the effects of GTF2IRD1 versus GTF2I on spatial construction and social behavior was previously hampered by the small number of cases with fewer than the usual gene deletions and limited cognitive data," explains Korenberg.

To distinguish the roles of the two genes, postdoctoral researcher and study first author Li Dai, Ph.D., combed the genomes of 17 Williams Syndrome patients to identify those who had lost only one GTF2I gene. This allowed identification of a girl who had retained GTF2I but didn't fit the classical description of the disorder. "Finding this girl was very exciting," Korenberg said. "Her case had so much power to explain the role of these genes."

When the Salk researchers tested the girl to measure her IQ and social behavior, they found her scores in vocabulary, information processing, comprehension, arithmetic, and the ability to finish partially completed drawings to be substantially closer to normal than most patients with Williams syndrome.

Her full-spectrum IQ, a measure of both functional and performance intelligence, was 78, a full 18 points higher than average for someone with the disorder. Yet in two areas, the ability to assemble objects or work through a maze, the girl scored lower than average for people with the syndrome and substantially lower than normal.

These tests also confirmed that her social behavior is different than expected. While she is charming and engaging, she does not run up to people and does not maintain as much eye contact or physical proximity to others when conversing.

"Because she has the typical facial features and severe deficits in visual spatial skills, but lacks the overly social behavior, it suggested to us that GTF2IRD1 contributes to visual-spatial performance while GTF2I plays a role in social behavior," says Korenberg.

Although this work presents a major step forward in linking GTF2I to social behavior, it does not mean they are the only genes involved, Korenberg notes. Endowed with the power to control the activity of other genes, GTF2I might regulate signal pathways determining the structure and function of the brain or the production of neurohormones such as vasopressin and oxytoxin. Oxytoxin plays a key role in the desire to seek social interactions and trusting others, which might explain why for children with Williams syndrome, the world has no strangers, only friends.

Thursday, February 5, 2009

More on Brain Processing in People with Williams Syndrome

Why Bangor is smiles ahead - WalesOnline:

"The research, which is published this month in the Journal of Neuroscience, focused on individuals with Williams syndrome, a rare genetic condition. Along with other traits, people with Williams syndrome have a heightened response to happy or smiling faces and are less likely to react to aggressive or angry faces.

People with this condition can be friendly and gregarious – so friendly that they can place themselves in danger. Such individuals generally require 24- hour care or supervision.

Through the research, the team was able to pinpoint the differences in brain processing in people with Williams syndrome compared to a range of other individuals to learn more about this unusual condition.

“We want to understand the brain mechanisms involved in reacting to emotional expressions so that we can understand what happens within these individuals and ultimately improve the help and care they receive,” Dr Mills said. “People with Williams syndrome are usually aware of their condition but are often unable to inhibit their impulses to engage with people around them. It may be their response to seeing a happy face is far more intense than our own.”

The part of the brain most active when reacting to emotion- al stimuli is the amygdala, a primitive almond-shaped brain structure. This small area deep within the brain interacts with other parts of the brain to regulate arousal, attention, and memory to emotional stimuli.

The researchers established that the changed response in people with Williams syndrome was not related to IQ."

"How's Your News," New MTV Show, First Review

Ellen Gray: MTV debuts a different kind of 'News' | Philadelphia Daily News | 02/05/2009

But it's Vest, a 20-year-old with Williams syndrome whose mother says he's "always been what we like to call 'severely unusual,' " who's the show's star.

Williams, a genetic condition associated with, among other things, outgoing personalities and good verbal skills, may have given Vest a leg up in a frothy world where one minute you're palling around with John Stamos and the next you're doing red-carpet interviews at the Grammys.