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.”"

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.

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.

Sean Tuck Goes to Clemson University

PRO-Parents_Reach_Out_Newsletter_Winter_2008_-_2009.pdf (application/pdf Object)

Sean, 21 of Greenville, has Williams syndrome — a rare genetic condition, estimated to occur in 1 of
every 7,500 births, which causes medical and developmental problems. But Sean gives very little indication
of someone who is labeled “intellectually disabled.”
Bright, funny, and friendly, Sean is one of three area charter students in Clemson’s new LIFE program.
Sharon Sanders, program manager, said the program is a college school-to-job transition for these
youths, just like all high school graduates...
Clemson University students are already lining up to provide support for the program. Education majors
will assist with delivering lessons, developing curriculum, and evaluating progress. Other undergraduates
will serve as LIFE Mentors and will accompany the Clemson LIFE students to sporting events and theater
presentations, work out with them at the gym, go to movies, and share meals on or off campus. Even the
student government is currently considering options like which committees the students could serve on.
“This is a very exciting opportunity for us to help these students out and make a difference in their future
while also contributing to a more inclusive campus environment,” said one Clemson student, “and to be
part of something bigger than ourselves.”

Sociability Traced to Particular Region of Brain by Stanford Scientists - MarketWatch

Sociability Traced to Particular Region of Brain by Stanford Scientists - MarketWatch:

"STANFORD, Calif., Jan 27, 2009 (BUSINESS WIRE) -- People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers at the Stanford University School of Medicine showed that parts of a particular brain region known as the amygdala react more powerfully in Williams syndrome patients than in developmentally normal subjects--or in subjects with delays in development not caused by Williams syndrome--when exposed to facial expressions conveying positive emotions.
The study will be published Jan. 28 in the Journal of Neuroscience. Biopsychologist Brian Haas, PhD, a postdoctoral researcher at Stanford, shares first authorship of the study, with Debra Mills, PhD, of Bangor University in Gwynned, Wales. Haas conducts research in the laboratory of Allan Reiss, MD, the Howard C. Robbins Professor of Psychiatry and Behavioral Sciences at Stanford, who is the paper's senior author. The work is part of an ongoing multicenter collaboration."

Telluride Inside... and Out:MacKenzie Mansour skis with TASP

Telluride Inside... and Out:MacKenzie Mansour skis with TASP:

"Fourteen year old MacKenzie Mansour, from Lone Oak, TX, has been skiing with Telluride Adaptive Sports Program this past week. MacKenzie has a rare genetic condition known as Williams Syndrome. That has not stopped her from enjoying our mountain. I had the privilege of skiing with MacKenzie for three days. The progress was inspiring to observe. The attached video shows the increase in confidence between her first and third runs in Ute Park her second day out. Hurray for you, MacKenzie."

Local woman has something to smile about

telegraphjournal.com - Local woman has something to smile about - Breaking News, New Brunswick, Canada

Michelle Arsenault, is a Saint John woman with Williams Syndrome.

Her debilitating condition caused her to have severe dental issues throughout her life, with teeth so misaligned they were almost in three rows. The condition of her teeth made it difficult to chew and swallow food.

Arsenault, who lives with her single mother Darlene Gallant and sister Jocelyn, works at Key Industries. Her family was unable to afford the dental work she required to fix her teeth.

That is, until the dental committee of the Saint John Kiwanis Club stepped in to pay for the procedures.

After four years, Arsenault has a Colgate smile.

Atypical right diaphragmatic hernia (hernia of Morgagni), spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report - 7thSpace Interactive

Atypical right diaphragmatic hernia (hernia of Morgagni), spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report - 7thSpace Interactive:

"These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen.

Diaphragmatic hernia may be the cause of chest pain in these patients. A computed tomography scan helps in early diagnosis, and laparoscopic repair helps in prevention of further complications, and leads to quick recovery especially in patients with learning disabilities.

In the presence of significant comorbidities, a less invasive operative procedure with quick recovery becomes advisable."

Arkansas WS Boy Gets Free Shopping Trip

NWAnews.com :: Northwest Arkansas' News Source:

"Anthony has some obstacles to overcome should he ever become a cop. He was born with Williams Syndrome, a genetic condition that includes problems and abnormalities throughout his body.

With Anthony, the shopping trip was going to be a bit of a show, and any officer with him was going to be entertained. Rumor had it several officers had their fingers crossed they would be with Anthony. Weimer didn't say much about his pairing; mostly he just smiled.

Anthony entertained the salespeople, singing happy birthday to one who was 'just a little bit older than 14,' and introducing himself to almost everyone he met, except for the ones he already knew from last year, who he addressed like old friends."

How genes can contribute to hypersocial behavior in people with Williams Syndrome

How genes can contribute to hypersocial behavior « Biomarker-driven mental health 2.0:

"In their current paper, Sarpal and colleagues measured brain activity as well as correlations of activity (connectivity) between brain regions as patients with WS passively viewed visual objects (faces and houses). They report that connections from early visual processing areas (fusiform and parahippocampal gyrus) in WS are actually weaker to the frontal cortex and amygdala. Since activation of the frontal cortex and amygdala are associated with inhibition and fear, it may be case that the weaker connections from early visual areas to these regions gives rise to the type of gregarious and prosocial (a lack of fear and inhibition) behavior seen in WS. In further pinpointing where in the brain the genes for WS might be causing a developmental change, the authors point to the ventral lip of the collateral sulcus, an area situated between the fusiform and parahippocampal gyri. This may be the spot to more closely examine the role of genes such as LIMK1 - a gene that participates in the function of the actin cytoskeleton (an important process in synaptic formation)."

The part-time parents who help struggling families to cope with a labour of love - Times Online

Times charity: Action for Children: The part-time parents who help struggling families to cope with a labour of love - Times Online:

"This is where Action for Children, a charity being supported by The Times Christmas Appeal, comes in. In one of many shared-care schemes that the charity operates throughout Britain, David and Wendy West, from Oakdale, near Blackwood, South Wales, now look after Dion for a weekend every fortnight, offering Ms Evans a respite from the demands of his constant care. “He just becomes part of the family every other weekend,” Mrs West, who has two daughters of her own, said. “We go walking the dogs, to the cinema, out for a picnic or to church on a Sunday. Whatever we are doing, he fits in.”

Having looked after Dion for seven years, the Wests are familiar with his medication and dietary needs, much of which fills the little Spider-Man suitcase that he brings with him when he comes to stay. They became interested in shared care as a less committed option after considering long-term fostering, and now look after Sian, an 18-year-old girl with Williams syndrome, a rare condition that results in learning and developmental problems."

Clare's Journey: Reality

Clare's Journey: Reality:

"I don't know if Clare realizes yet how she is different from other children. But I do, and it hurts."

SpringerLink - Journal Article

SpringerLink - Journal Article:

"In conclusion, our data represent the largest collection of individuals with Williams syndrome who underwent cardiac catheterization and/or operation. The data suggest that children with Williams syndrome and bilateral outflow tract obstruction have statistically and clinically significantly higher mortality associated with catheterization or operation."