Thursday, October 29, 2009

Covert processing of facial expressions by people with Williams syndrome

Covert processing of facial expressions by people with Williams syndrome:

"Although individuals with Williams Syndrome (WS) are empathic and sociable and perform relatively well on face recognition tasks, they perform poorly on tasks of facial expression recognition. The current study sought to investigate this seeming inconsistency. Participants were tested on a Garner-type matching paradigm in which identities and expressions were manipulated simultaneously as the relevant or irrelevant dimensions. Performance of people with WS on the expression-matching task was poor and relied primarily on facilitation afforded by congruent identities. Performance on the identity matching task came close to the level of performance of matched controls and was significantly facilitated by congruent expressions. We discuss potential accounts for the discrepant processing of expressions in the task-relevant (overt) and task-irrelevant (covert) conditions, expanding on the inherently semantic-conceptual nature of overt expression matching and its dependence on general cognitive level."

Monday, October 26, 2009

Yale Researchers Awarded Grant to Develop Treatment of Williams Syndrome

Yale Researchers Awarded Grant to Develop Treatment of Williams Syndrome:

"The Kiev Foundation grant will support the research of Frank Giordano, M.D., associate professor of internal medicine (cardiovascular); William C. Sessa, professor and vice chair of the Department of Pharmacology and director of the Vascular Biology and Therapeutics Program; and George Tellides, M.D., professor of surgery (cardiothoracic), who will study the elastin gene in order to design new treatments for Williams Syndrome. The most severe problems of WS are caused by the loss of one copy of elastin, a gene on chromosome 7 that plays a key role in the maintenance of artery walls.

Giordano and Sessa will investigate whether the deletion of one copy of elastin causes changes in gene expression that lead to WS. Giordano’s lab will attempt to engineer transcription factors as a treatment to increase the expression of the remaining elastin gene. Sessa’s lab will concentrate on identifying microRNAs that can enhance that expression."

Saturday, October 17, 2009

Early screenings can help children later in life

Updated: Early screenings can help children later in life | | Tallahassee Democrat:

"Jeremy Richard was born with Williams syndrome, a rare genetic disorder of the heart that doctors said can generally lead to problems with development.

His mother, Allison Tant, knew physical and cognitive delays were most likely in Jeremy’s future, but it was the screening process when he was just 5-months-old that set her on the right path of therapies and interventions that now allow the 11-year-old to play the piano, guitar and be a successful fourth-grader who is able to function with his learning disabilities."

Tuesday, October 13, 2009

Retinotopically defined primary visual cortex in Williams syndrome

Retinotopically defined primary visual cortex in Williams syndrome -- Olsen et al. 132 (3): 635 -- Brain:

"Williams syndrome, caused by a hemizygous microdeletion on chromosome 7q11.23, is characterized by severe impairment in visuospatial construction. To examine potential contributions of early visual processing to this cognitive problem, we functionally mapped the size and neuroanatomical variability of primary visual cortex (V1) in high-functioning adults with Williams syndrome and age- and IQ-matched control participants from the general population by using fMRI-based retinotopic mapping and cortical surface models generated from high-resolution structural MRI. Visual stimulation, consisting of rotating hemicircles and expanding rings, was used to retinotopically define early visual processing areas. V1 boundaries based on computed phase and field sign maps were used to calculate the functional area of V1. Neuroanatomical variability was assessed by computing overlap maps of V1 location for each group on standardized cortical surfaces, and non-parametric permutation test methods were used for statistical inference. V1 did not differ in size between groups, although its anatomical boundaries were more variable in the group with Williams syndrome. V1 overlap maps showed that the average centres of gravity for the two groups were similarly located near the fundus of the calcarine fissure, ~25 mm away from the most posterior aspect of the occipital lobe. In summary, our functional definition of V1 size and location indicates that recruitment of primary visual cortex is grossly normal in Williams syndrome, consistent with the notion that neural abnormalities underlying visuospatial construction arise at later stages in the visual processing hierarchy."

Monday, October 12, 2009

Williams Syndrome and The Great Vitamin D Panic

Dr. Joe's E-News - A Diabetes Newsletter: The Great Vitamin D Panic:

"He also details the role the Williams syndrome played in the Great Vitamin D Panic. Williams syndrome is a genetic malformation that causes, among other things, infantile hypersensitivity to Vitamin D, elevated 1,25 levels even without supplemental Vitamin D, and often hypercalcemia in response to supplemental Vitamin D. (In fact, it was by studying the Williams Syndrome that I became more convinced of the relationship of Vitamin D to autism. Kids with the Williams syndrome, the only human disease with greatly elevated serum 1,25 levels around birth, grow up to have an adult personality that is the phenotypic opposite of autism, thus they are an experiment of nature.)"

Wednesday, October 7, 2009

The Specials

Home | The Specials

The BBC is running a new reality TV series that follows the lives of 5 housemates... each with a different disability. It won't take long to figure out who has Williams Syndrome.

Monday, October 5, 2009

Canadian Member of Parliament calls for Williams Syndrome awareness week | NDP

Siksay calls for Williams Syndrome awareness week | NDP:

"Mon 05 Oct 2009

OTTAWA – Today, Bill Siksay (Burnaby Douglas) introduced a private member’s bill which would designate the week of August 1 to 7 every year as “Williams Syndrome Awareness Week.”

Williams Syndrome is a rare genetic disorder that is caused by an abnormality in chromosomes. It can affect brain development and can cause various physical problems such as cardiovascular disease. Individuals with this disorder become highly verbal and social.

“Designating this week would raise awareness of Williams Syndrome, and hopefully advance education and research into the condition,” said Siksay. “I think a heightened awareness of this condition will facilitate the integration of those with Williams Syndrome into society.”

'By establishing this Awareness Week for Williams Syndrome we are creating world knowledge for many parents, professionals and the public of a syndrome that often goes undiagnosed or misdiagnosed,” said Diane Reid, Chair of the Canadian Association for Williams Syndrome. “Our kids throw educational theories out the window since their tested IQ levels are a series of peaks and valleys that aren’t supposed to exist.”

“This bill will go a long way towards ensuring individuals with Williams Syndrome will be included in their communities so they may make their unique contributions to Canadian society,” concluded Siksay."

The Herald-News - News Story - Community blesses toddler's heart

The Herald-News - News Story - Community blesses toddler's heart:

"It's not every day that a 2-year-old boy goes in for open-heart surgery. But it's even less common to have his grandmother's school co-workers rally around him offering prayers and support and even donning t-shirts saying, 'Bless Jake's Heart.'

Jacob White, the son of Rhea County natives Jennifer and David White, was diagnosed with Williams Syndrome six months after he was born. The condition caused a heart valve complication that necessitated his heart surgery.

'It's a fairly routine surgery to the doctors, but it's risky for us,' said Jacob's grandmother Beverly Revis.

Jacob's heart surgery is scheduled for Wednesday at the University of Michigan in Ann Arbor.
He will travel from his Nashville home with nearly a dozen family members, but he'll have a vast support system here in Rhea County too.

His mother came up with the idea of designing t-shirts for friends and family to wear on the day of Jacob's surgery.

'The t-shirt was a way to build support and raise money for the trip to Michigan,' said Jennifer."

Zebrafish and Williams Syndrome?

Astronomer puzzles over universe - News -

"Take Carl Reiber, a professor and the associate dean of the College of Sciences.

Reiber is about to launch a research project studying zebrafish in such a way that it might, he hopes, lead to a treatment for children with a rare chromosomal disorder called Williams syndrome."

Sunday, October 4, 2009 - The Monroe Evening News, Monroe, MI - The Monroe Evening News, Monroe, MI:

"Now a 17-year-old 10th-grader who enjoys music, hanging out with friends and has ambitions to attend the University of Notre Dame, Kurtis is an international speaker who uses his life story to send a message that people like him can succeed if given the opportunity.

'My disability is a part that makes me be me,' he said. 'We don’t need prejudice here in Michigan.'

Kurtis has Williams Syndrome, a rare genetic disorder that causes delayed speech, development delays and learning disorders. It is incurable and those who have it are largely misunderstood as not having the ability to retain information or learn, Mrs. Cunningham said.

During a guest appearance at the Monroe County Intermediate School District, Kurtis and his mother, who live in Holland on the west side of the state, used a computer during their presentation to help educators realize that those with disabilities sometimes need electronic assistance to excel and to be heard."