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..."

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!

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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.”

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“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.

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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."

Support for non-disabled siblings

Support for non-disabled siblings - 3/19/09 - Chicago News - abc7chicago.com:

"March 19, 2009 (CHICAGO) (WLS) -- Having a sibling with a disability is not always easy. Many need a support network to share their experiences.

It's bowling night for teens from Illinois Masonic hospital's Sibshop.

'It's really about enjoying each other 's company, celebrating the good things as well as maybe talking bout some of the difficult things that come about when you have a brother or a sister with a disability,' said Coordinator Sheila Swann Guerrero.

Guerrero says Sibshops has been a supportive network for non-disabled siblings for 20 years.

'They might not get the same amount of time with their parents as they would like to have, and often in our sib groups, giving children the opportunity to express that and then hear that other brothers an sisters are experiencing the same thing kind of gives them the green light that it's ok.'

Sixteen-year-old John Dahlstrom has been involved with Sibshop for many years. His older sister has Williams syndrome."

Williams Syndrome Girl Receives Elastin Gene?

Benton Courier - Area vets help girl:

My understanding is that this was not medically possible?

"While the donation will pay for the procedure, the Knights still have to come up with travel expenses before they can go. Last time, the total cost was $7,300. After Trinity receives the second treatment, she will need a third $5,000 treatment, the Knights said, and then a $25,000 procedure which calls for actually putting the elastin gene in her. The elastin missing in Trinity is what causes Williams Syndrome."

Brendan Lemieux - A Williams Syndrome Drummer

Brendan Lemieux: Rare Talent - The Source:

"You may still have plenty of time to become a prodigy if you’ve taken your first steps before you make your first foray into music, but Brendan Lemieux will have gotten the jump on you.

Brendan, now 21, was whistling Beethoven before he could walk.

“My mom told me that I was whistling at 14 months,” says Brendan, who picked up a pair of drumsticks at age three and has been playing ever since.

The motivation behind his proficiency is also unique. Brendan, who has the rare genetic condition Williams syndrome, suffered from the sensitivity to loud noises that often accompanies this disorder. Although it might seem paradoxical, playing the drums helped him overcome the physical illness that used to accompany loud noises.

While there is no doubt that Williams syndrome has its downside, including heart defects and joint problems, Brendan’s heightened sociability and musical abilities also result from the disorder."

Medical News: Microdeletions in IVF Embryos Caught With New Diagnostic Technique - in Endocrinology, Infertility from MedPage Today

Medical News: Microdeletions in IVF Embryos Caught With New Diagnostic Technique - in Endocrinology, Infertility from MedPage Today:

"Duchenne and Becker muscular dystrophy, Prader-Willi syndrome, and Williams syndrome are some of the disorders believed to result from microdeletions. FISH methods can also detect copy-number variations that underlie a range of other genetic diseases.

FISH methods use nucleotide probes that hybridize with target sequences, tagged with a fluorescent molecule so that successful binding can be visualized under a microscope.

For detecting microdeletions in a particular gene, the probe is designed to bind its normal sequence. An absent fluorescent signal indicates that hybridization failed, meaning the gene is missing or defective.

FISH is a standard laboratory tool for cytogenetic analysis, but its adaptation to in vitro fertilization (IVF) embryo analysis is relatively untested, in part because it must be made to work on one or two cells.

In the current study, Dr. Vermeesch and colleagues used the technique on embryos from three couples having a total of seven IVF cycles. The women in these couples were known carriers of microdeletions related to neurofibromatosis type 1 or Von Hippel-Landau disease.

The researchers biopsied 64 embryos produced from these cycles. Two blastomeres with excised from each embryo for analysis. Although it would have been possible to perform the tests on single blastomeres, Dr. Vermeesch and colleagues believed analyzing two would be more accurate.

Incomplete results were obtained for 14 embryos and were excluded. The FISH procedure failed in one case, and only one blastomere could be analyzed in 13.

Of the 50 embryos successfully analyzed, 17 appeared normal and healthy. Deletions related to neurofibromatosis type 1 or Von Hippel-Landau disease were found in 27 embryos. The remaining embryos were mosaic or had other abnormalities such as copy-number variations.

Ten embryos were implanted in the women, two of which resulted in pregnancy -- twins born to one woman, with both infants found to be free of microdeletions.

Dr. Vermeesch and colleagues called the approach a success, but suggested it would be more practical when it can be implemented on an array platform. This technology would allow many different analyses for microdeletions and other mutations to be performed simultaneously."

The obvious ethical question is whether or not parents would abort the child if they discovered she had WS.

Friends, fun in Down Syndrome Association Soccer League

Friends, fun in Down Syndrome Association Soccer League | Jacksonville.com:

"Alex, 16, has a rare gene disorder known as Williams syndrome, which is marked by heart and vascular problems as well as extreme gregariousness - easy to see in the boisterous teen, ringleader of the noogie patrol.

During the game, Alex hurtles his body after the ball, tracking it like a lion after an antelope. For years he watched his brother and sister compete in their sports. Now it's his chance.

'We've got to watch his heart,' says his father. 'But the doctor said, 'Let him be a boy. He's got to be a boy.' '

And he is."

NYT: Profile of a young woman with Williams Syndrome

Nineteen year old, Nicki Hornbaker, discusses her fun life with Williams Syndrome.

Repair of Supravalvular Aortic Stenosis in Williams Syndrome Child (Warning: Vivid Content)

This was a little too much for me to watch but I post it here for those who have an interest in what is likely the most common Williams Syndrome surgery. SVAS is common in many WS people and can be fatal if not surgically repaired. Not all cases require surgery. Our boy has a very mild case that is monitored annually now.

WS Person, Lisa Walsh, Shows Us the Berkshire Hills Music Academy

Of particular note is the way music is used to assist education and the development of life skills.

Daniel Levitin Discusses Some Preliminary Research on Williams Syndrome