Blackbird Leys pub regulars take on charity abseil (From Oxford Mail)

Blackbird Leys pub regulars take on charity abseil (From Oxford Mail):

"A team of daring drinking buddies took their friendship to another level at the weekend as they dropped 100ft to raise money for charity.

The 15-strong team of regulars at the Blackbird Pub, in Blackbird Leys, Oxford, joined the abseil down the outside of the Women’s Centre at the John Radcliffe, in aid of the Oxford Children’s Hospital.

According to the Oxford Radcliffe Hospitals Charitable Funds Team, it was one of the best turnouts at one of their abseils, and the event looks set to raise as much as £50,000 for equipment and facilities at the hospital.

The friends were inspired to take the plunge by Ciara Brennan, of Balfour Road, whose daughter Rhianna receives regular treatment at the hospital for a rare genetic disorder.

The three year old has been diagnosed with Williams Syndrome, which can affect the growth of a child physically and mentally, and means the little girl develops dangerously high levels of calcium in her body."

Raising awareness, funds - Greenwich Times

Raising awareness, funds - Greenwich Time:

"Still, the Conrods know people with Williams syndrome typically require multiple therapies, such as speech and physical, since they often have delayed verbal skills and joint stiffness as they grow. They also can require surgery, sometimes multiple procedures. The Conrods said George will need open heart surgery to fix the narrowing of his aortic valve.
Dr. Barbara Pober, who has been treating George since he was a newborn, is a geneticist based at Massachusetts General Hospital. For the past 20 years, she has been treating hundreds of people with the syndrome, which is caused by random genetic mutation. She also has conducted research, looking into genetic influence on social and cognitive skills.
In effect, anyone is at risk for the disorder, no matter what gender, ethnicity or hereditary influences. The odds go up, to 50/50, for someone whose parent has the disorder.
Prior to the early 1990s, when a blood test became available to test for elastin, a diagnosis was determined by looking for physical and developmental characteristics, Pober said.
She said some of the latest research is focused on studying the missing genes to determine function, as well as therapies or other treatments that could compensate for the omission.
'Every parent dreams the developmental delays can be lessened, but that is a tough nut to crack,' she said. 'But that doesn't mean you can't ask the question or design research. Are there therapies ... that can ameliorate or minimize some of the complications.'
Those kinds of questions are what drew Westport resident Marshall Kiev to the board of the Williams Syndrome Association. As the father of a young daughter with the disorder, who has had multiple heart operations, he is working to raise funds for research work.
'I remember asking, 'Can anything be done?' ' he said of a conversation he had with several friends who were doctors.
The answer? More money was needed for research.
His first project focused on cardiovascular issues, particularly the narrowing of arteries, which affects about 75 percent of those with the disorder, some more severely than others.
'We know what causes it, but we don't know how to fix it,' he said.
That effort led to a symposium last year at Yale University and the $320,000 grant.
'We've seen the mountains, now we have to figure out how to start climbing them,' he said."

Mum's plea over theft of disabled son's bike

Evening News 24 - Mum's plea over theft of disabled son's bike:

"The youngster, who suffers from Williams Syndrome, which physically and mentally means he is about the age of a 14-year-old, has been left upset by the theft which happened outside a shop in Distillery Square."

foodconsumer.org - Vitamin D Theory of Autism

foodconsumer.org - Vitamin D Theory of Autism:

"Much more interesting is the fact that children with Williams Syndrome (rare congenital disorder due to a missing piece of chromosome seven) often have greatly elevated activated vitamin D levels for several months in early life. They usually present in later life with remarkable sociability, overfriendliness, empathy, and willingness to initiate social interaction—strikingly the opposite personality of autistic children. 8 9

So, abnormally-low activated vitamin D levels produce infants with symptoms of autism while abnormally-high levels produce children with personalities the exact opposite of autism."

Smart Bombs: Mark Dery, Steven Pinker on the Nature-Nurture Wars and the Politics of IQ - Boing Boing

Smart Bombs: Mark Dery, Steven Pinker on the Nature-Nurture Wars and the Politics of IQ - Boing Boing

Mark Dery: I'm interested in the relationship between a facility with language---eloquence, by any other name---and intelligence. I'm especially interested in the question of whether people possessed of a certain facility with language can use language as a sort of simulation engine to create the illusion of a greater intelligence than they actually possess, whether through eloquence or, more crudely, the strategic use of a large vocabulary (specifically, arcane words or rarified jargon), highbrow allusions, and the like.
Thanks for taking the time to read and consider this query.

Steven Pinker: Unfortunately, there has not been much systematic work on the relation between language fluency and psychometric measures of intelligence. There are some neuropsychological and genetic syndromes in which retarded children and adults can speak deceptively well, fooling onlookers into thinking that there is nothing wrong with them. I discuss one case of hydrocephalus, and another of a child with Williams Syndrome, in chapter 2 of The Language Instinct.

Within the normal range, the word "glib"pretty much captures the common-sense intuition that it is possible to be verbally fluent without saying anything intelligent. On the other hand, even if fluency, high vocabulary and the like can momentarily fool listeners into overestimating the person's intelligence (or at least the quality of his thought, which is not perfectly correlated with intelligence---smart people can say foolish things), I suspect that the vast majority of verbally fluent people are also intelligent by standard measures. Vocabulary, as you probably know, is highly g-loaded, and on average, people who test well in verbal intelligence also test well in all other measures of intelligence (that is the basis for "g").

On your cultural critique of IQ tests: I'm not sure if you plan to reiterate the arguments of Stephen Jay Gould in The Mismeasure of Man (and similar critiques from Leon Kamin and others) but I assume you know that his arguments were considered highly inaccurate (to the point of dishonesty) by the scientists who study intelligence even when the book was published, and by now have been pretty much discredited.

Unfolding the mysteries of the brain

Unfolding the mysteries of the brain - The Boston Globe:

"Scientists have also found evidence of abnormal folding in a variety of mental and neurodevelopmental conditions, including depression, epilepsy, and the rare Williams Syndrome. These irregularities take a variety of forms - some regions of the brain may be overfolded, others underfolded, some folds may be too deep, others too shallow, and so on."

Gene ties trust hormone to Williams syndrome and autism

Gene ties trust hormone to Williams syndrome and autism « Virginia Hughes:

"Most people with Williams syndrome lack one copy each of 25 consecutive genes on chromosome 7. The girl in Korenberg’s study is only missing 24: she carries two functional copies of GTF2I.

Unlike most people with Williams syndrome, she also does not approach strangers and is not overly gregarious — suggesting that GTF2I is at least partly involved in social behavior.

“She’s the only one in the world who’s got that exact deletion, with all of numbers 1 to 24 missing, so she is the only one where we can look at all of the effects of that gene,” says Korenberg."

LifeWay conference highlights special needs ministry

LifeWay conference highlights special needs ministry:

"The unreserved enthusiasm continued as class members answered Bible lesson questions during Special Friends Vacation Bible School, part of the special needs ministry track offered at LifeWay Ridgecrest Conference Center during LifeWay’s The Power of the Connected Sunday School Conference (aka Sunday School Week) July 10-13.

'Have any of you ever shared Jesus with anyone?' asked teacher Jo Ann Banks.

'Yes!' replied adult learners who had disabilities ranging from intellectual disabilities to autism to genetic disorders.

'He died on the cross for our sins – so we could have eternal life,' said Rob Powell in his strong, outgoing, matter-of-fact voice. Powell, 39, has Williams syndrome."

Pulmonary Arterial Stent Implantation in an Adult with Williams Syndrome

Pulmonary Arterial Stent Implantation in an Adult with Williams Syndrome:

"We report a 38-year-old patient who presented with pulmonary hypertension and right ventricular dysfunction due to pulmonary artery stenoses as a manifestation of Williams syndrome, mimicking chronic thromboembolic pulmonary hypertension. The patient was treated with balloon angioplasty and stent implantation. Short-term follow-up showed a good clinical result with excellent patency of the stents but early restenosis of the segments in which only balloon angioplasty was performed. These stenoses were subsequently also treated successfully by stent implantation. Stent patency was observed 3 years after the first procedure."

LeAnn Rimes Visits Vanderbilt's Williams Syndrome 2009 Music Camp

LeAnn Rimes Williams Syndrome 2009 - a set on Flickr

You can view photos of the event by clicking the link above.

Parents of special-needs child focus on achievements | SouthCoastToday.com

Parents of special-needs child focus on achievements | SouthCoastToday.com:

"Providing early intervention for children with special needs is vitally important to their development. That intervention might include family-centered involvement with physical, occupational and speech therapy and the advice of a medical specialist, genetic counselor or educational psychologist. Many services are mandated by federal law and can help families lessen the impact of a child's disability.

'Research has shown that providing intensive services at the earliest age possible can offset the effects of disabilities,' says Christine Riley, an education advocate for Cape Cod and the Islands. 'The earlier the child is exposed to services, the less the chance that the disability will impact their education and their generalized functioning.'"

'He can be a real baby now'

'He can be a real baby now' | KOMO News - Seattle, Washington | Local & Regional:

"Cody was just six months old when doctors diagnosed him with Williams syndrome, a genetic disorder that causes heart and vessel problems.

Local doctors had done all they could for the baby, but his parents found a doctor in Cleveland who thought he could do more. So they took off across the country, banking on a chance.

'There's not always a good outcome but there's a chance and that's what we're hoping on is that chance,' said Mitchell.

And that chance paid off. Cody underwent surgery on April 27 and spent a couple of weeks in the hospital.

'He pulled through really well and they were able to open up quite a few of the arteries,' Mitchell said."

Cookie Mondays..... Ice Cream Sundays

Happy Birthday Harrison!:

"Well, for Harrison, it was approaching the microphone at his high school graduation two weeks ago, and delighting the crowd with a few of those famous knock-knock jokes. In that crowd, of course, a very proud and tearful family."

Williams Syndrome and Social Fearlessness

Williams Syndrome and Social Fearlessness

Using a brain scanner, a team of scientists at Stanford University studied the brain activation as people with and without Williams syndrome looked at pictures of facial expressions: happy, neutral, or afraid.

Like a previous study, the scientists found that the amygdala in Williams syndrome was rather unmoved by the afraid faces. It's as though their brain did not register that those faces were something to feel nervous about, and might explain the hallmark social fearlessness of Williams syndrome.

But—and this was the new finding—the amygdala was highly activated when people with Williams syndrome looked at happy faces.

It was the other way around for the group without the syndrome: The amygdala turned on to fearful faces but not so much to happy ones.

This doesn't mean that people with Williams syndrome are frightened by happy faces, says Brian Haas, Ph.D., first author of the study. Instead, he says it reflects what's emotionally riveting for people.

"Happy facial expressions may be more rewarding for those with Williams syndrome," Haas says. "This may explain their increased drive and motivation to approach others and to socially interact."

This finding also fits with a broader picture of the amygdala that has been emerging recently. Rather than solely devoted to fear, the amygdala seems to deal with other strong emotions too, like sadness and happiness.

Haas says that the amygdala tunes into the things that are very relevant to us now and that can sway our feelings. So if you spot a snake, or watch a friend break into tears, the amygdala leaps to attention and points the brain's resources to these emotionally charged situations.

And for people with Williams syndrome, a happy face tugs powerfully on their attention. Haas hopes that this affinity for happy expressions may somehow be used to motivate or reinforce people with Williams syndrome when they are taught about what is socially appropriate. This could help those with the syndrome form closer social bonds with others, which often suffer due to their overly outgoing ways, he says.