Tuesday, April 28, 2009

Williams Syndrome Researcher Named to American Academy of Arts and Sciences

Johns Hopkins Gazette | April 27, 2009:

"Barbara Landau is the Dick and Lydia Todd Professor and chair of the Department of Cognitive Science. Her work focuses on language learning, spatial representation and the relationships between these foundational systems of human knowledge. In particular, Landau investigates these issues in normally developing children and in people who have severe spatial impairments due to a rare genetic condition known as Williams syndrome.

She is a fellow of the Cognitive Science Society, the American Psychological Society, the American Psychological Association and the American Association for the Advancement of Science. Last month, the John Simon Guggenheim Memorial Foundation named her a Guggenheim Fellow. She also serves on the governing board of the Cognitive Science Society and recently completed a term on the board of scientific affairs of the American Psychological Association. She is at work on a book to be titled 'Gene, Brain, Mind and Development: The Puzzle of Williams Syndrome.'"

Sunday, April 19, 2009

Running for Sophie

Ultra | Running for Sophie:

"Sophie’s Run, an awareness raiser for Williams Syndrome and a fundraiser for the future needs fund for Sophie Gerding, a 6-year-old girl from Philomath will take place at 9 a.m. Saturday, April 25, at Willamette Park. For registration and information see, http://sophiesrun.com/."

Friday, April 17, 2009

Williams Syndrome: UD Research Pinpoints Language And Learning Traits Of Those With Williams Syndrome

Williams Syndrome: UD Research Pinpoints Language And Learning Traits Of Those With Williams Syndrome:

"People with Williams Syndrome, a genetic disorder affecting an estimated one among every 25,000 individuals, are frequently described as having extraordinary musical and verbal skills, despite a profound inability to conceptualize spatial information.

Yet, research at the University of Delaware--to be presented Nov. 6 in Boston, Mass.--shows that language use by children with Williams Syndrome may, in fact, be directly affected by their cognitive deficits related to spatial events.

And, studies of eye movement among Williams Syndrome children, scheduled for presentation Nov. 20 in Dallas, Texas, suggest that some of this spatial deficit may result, at least in part, from 'their tendency to allocate attention to smaller regions of space than normal children, as well as their difficulties encoding an object's properties and location,' says Barbara Landau, a professor of psychology and director of UD's Language and Cognition Laboratory."

New Research on How Williams Syndrome Effects Quality of Peer Relationships

High Point University © 2009:
"HIGH POINT, N.C., April 13, 2009 - Dr. Kirsten Li-Barber, assistant professor of psychology at High Point University, recently presented a poster entitled 'Social Profile in Children and Adolescents with Williams syndrome' at the Society for Research in Child Development Conference (SRCD) in Denver, Colo.

The purpose of her research study was to examine the social functioning of children and adolescents with Williams syndrome (WS). Although these individuals are described as having a highly outgoing and sociable personality, research has indicated that they also have difficulty maintain high-quality peer relationships.

Li-Barber administered the Social Skills Rating Scale (SSRS) to parents and teachers of children and adolescents with Williams syndrome, and compared these responses to see if there were significant patterns of social functioning that both parties agreed represented deficits in WS.

What she found was that although these individuals appeared to function at a social level that was significantly lower than typically developing individuals, they were still in the "normal range." She believes it could be due to the fact that the measure used is developed to assess the presence of pro-social or positive social skills behaviors as opposed to the presence of negative social behaviors. Her research leads to a better indication of what these individuals do well, as opposed to what they do not do well. "

Wednesday, April 15, 2009

Daily Dispatch Online

Daily Dispatch Online:

"JOHAN Coetzee has the community of East London to thank for his survival after doctors told his family in 2003 that he had no chance of surviving while living with Williams Syndrome.

Now 15, Johan is a budding drummer and guitarist, a self- proclaimed “computer maniac” and a friend of the East London rescue services."

Tuesday, April 14, 2009

New Book on Cognitive Development in Williams Syndrome to be Published

Johns Hopkins Gazette | April 13, 2009:

"Barbara Landau is the Dick and Lydia Todd Professor and chair of the Department of Cognitive Science. Her work focuses on language learning, spatial representation and the relationships between these foundational systems of human knowledge. 'The fellowship will allow me to work full-time during my sabbatical this coming year on a book that illuminates the nature of spatial knowledge in people with an unusual genetic deficit that results in severely impaired understanding of space,' Landau said. The book, she said, will be titled 'Gene, Brain, Mind and Development: The Puzzle of Williams Syndrome' and is under contract with Oxford University Press. 'I'll be spending most of the year here at Johns Hopkins but will also be traveling a bit to work with colleagues who specialize in the nature of human spatial knowledge,' she said."

Tuesday, April 7, 2009

Retinotopically defined primary visual cortex in Williams syndrome

Retinotopically defined primary visual cortex in Williams syndrome:

"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...

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."

Language Use in Williams Syndrome

The Implications of Williams Syndrome « Language Fix:

"Comparisons of SLI and Williams Syndrome hinge on the notion that SLI is inherited. While the research does suggest that at least a predispotion toward SLI is inherited, the complexity of its causes makes any comparisons like that of apples and oranges. The exact cause of Williams Syndrome is known: it is the result of missing genetic material on chromosome seven. SLI is likely the result of a stew of ingredients, with varied recipes, and varied results. Individuals with Williams Syndrome are gregarious. They enjoy talking. Is it any wonder that they may become relatively proficient at something they enjoy? As with other human behaviors and skills, language acquisition will likely never be reduced to one cause. Similarly, the fact that these individuals are poor puzzle solvers is more likely related to visual-spacial deficits than an impairment in some “puzzle solving” gene.

Anette Karmiloff-Smith has done a lot of great work on Williams Syndrome, much with a focus on accurately describing its characteristic language skills and deficits. Many of her publications are available for download on her personal web site. Language log has published an interesting post on the science and state of language research in Williams Syndrome..."

Sunday, April 5, 2009

Black River student travels to Middle East - Holland, MI - The Holland Sentinel

Black River student travels to Middle East - Holland, MI - The Holland Sentinel: "Holland, MI —

Kurtis Cunningham, a ninth-grader with a genetic disability, may seem like an unlikely candidate to serve as an ambassador to the Middle East.

But that’s almost exactly what he did last month as he was invited to the United Arab Emirates to tell conference attendees about how he’s included into regular classes at Black River Public School. The conference on education is by a former Black River School consultant now working for the UAE.

Cunningham, 18, has Williams Syndrome, a genetic condition that gives him a distinctive appearance and various medical problems. Although the condition comes with a few benefits — including very sensitive hearing — it also makes math very difficult for him and keeps him behind his peers in other school subjects.

Cunningham was invited to the United Arab Emirates conference and met with UAE officials such as Interior Minister Lt. General H.H. Sheikh Saif bin Zayed Al Nahyan."

Strange Science?

I am not so sure Dr. Grody has done all his homework, nor do I really know what this show is about!

Friday, April 3, 2009

New Help for Williams Syndrome Diagnosis?

PharmaLive: Ontario Biotech Company Wins Award for Innovation and Receives Investment to Grow Business:

"Cytognomix is developing and manufacturing DNA probes that can pinpoint genetic abnormalities more precisely than current methods and could, in the future, result in more effective disease diagnostics and more tailored treatment pathways for patients.

“These probes are the genetic equivalent of finding a needle in the haystack,” commented Glen Smeltzer, President of the Stiller Centre. “We are extremely proud to present the inaugural Stiller Centre Prize to such an innovative local business.”


“Subtle differences in chromosome structure are very common in genetic disorders,” commented Dr. Rogan, who was named a Canada Research Chair this month. “The probes will enable quicker and more precise identification of these diseases and other genetic abnormalities, and will aid physicians in choosing relevant and suitable treatments for the patient.


One example of how these probes can be invaluable is in cases of Williams syndrome which causes the narrowing of the aorta, one of the heart’s major arteries. This syndrome can sometimes cause a disorder in some children that results in delayed mental development. Probes have already been developed to detect these abnormalities, which leads to the swift enrollment of the child in remedial programs.

“This is the real clout of genomics - to marshall the power of predictive medicine,” continued Rogan."