Super-social gene may hold clues to autism, other disorders

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In some cases, he's taken cells from children with Williams syndrome, but instead of using the somewhat painful procedure to obtain skin cells, he's taken cells from lost baby teeth, using a so-called Tooth Fairy extraction kit.Gage said he’s intrigued at the idea of dissecting something as complex as human behavior down to the level of cells in a petri dish.
Already, since the grant was awarded in May, Gage and his colleagues have shown that the early proliferation of brain cells is lower in people with Williams syndrome than in those with normal function.
With time and persistence, it might one day be possible to develop drugs or other therapies that could be used to treat the conditions, Gage said.
Williams syndrome is the perfect test case for studying the link between genes and behavior, Bellugi said. The disorder is very specific, occurring only when a certain cluster of genes is missing from one of two copies of chromosome 7.
“We’re only talking about something like 25 to 28 genes out of 30,000 genes in the brain,” Bellugi said. “And it’s always the same set of genes.”

Learning to see: How vision sharpens – The Chart - CNN.com Blogs

Learning to see: How vision sharpens :

"The champion of the infant visual system is motion, which develops early and is relatively difficult to disrupt. At four weeks of age, babies can detect a flickering stimulus in a single location almost as well as adults. Babies can discriminate motion direction around seven weeks and speed by twenty weeks. Perception of global motion patterns, like raindrops seen through the windshield of a moving car, improves rapidly between three and five months and then continues to develop slowly through middle childhood. This aspect of motion processing, the most vulnerable to disruption, is impaired in some developmental disorders, including dyslexia, autism, fragile-X syndrome, and Williams syndrome."

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Six Johns Hopkins Faculty Named Guggenheim Fellows | R&D Mag

Six Johns Hopkins Faculty Named Guggenheim Fellows | R&D Mag:

"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."

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LT alum takes home gold at Special Olympics games in Greece

For a kid who started to swim before she could walk, competing for Team USA is sweet indeed for Jeanne DeCarlo at the Special Olympics World Summer games in Athens.

And winning a gold medal in her third and final race July 3 was like the proverbial icing on the cake for the Lyons Township High School alumna from Brookfield with the encouragement of her own cheering section of 10 family members and friends.

“It was tremendous,” DeCarlo said after a whirlwind 10 days of competing in the same venue as the 2004 Olympics. “I did very well, and everyone was very helpful.”

DeCarlo, 37, won a gold medal in the 4x50 meter freestyle relay. a bronze in the 100 meter freestyle and a fourth-place in the 50 meter freestyle race.

“It was amazing meeting people from all over the world,” she said. “We traded pins, and I have 40 pins from different countries, like Canada, Mexico, New Zealand, Germany and India.”

A highlight of the trip was hearing Stevie Wonder perform at the opening ceremony.

“It was amazing to see him. He got the crowd dancing,” DeCarlo recalled. “I did a dance with a Greek dancer, and we went around in circles.”

ABC News Report (20/20) on Williams Syndrome (in two parts)

Illinois Swimmer with Williams Syndrome Competing in World Special Olympics

June 16, 2011 (ELMHURST, Ill.) (WLS) -- On Friday, a local gold medal swimmer is heading to Greece to represent the U.S. in the Special Olympics World Summer Games.

She is the only swimmer from Illinois.

After 23 years of winning medals in different events, 37-year-old Jeanne Decarlo's dream has come true.

At Elmhurst's YMCA, Jeanne practices swimming as her coach and mom Sheri encourages her to swim faster.

Swimming has always been something Jeanne does well. She was born with Williams Syndrome.

Study Suggesting Connections Between Autism and Williams Syndrome Can be Downloaded free here

Neuron - Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism:

Williams Syndrome Teen Speaks Out Against Bullying

Click the title to watch the video.

Scientists find new genetic clues that may link Autism to Williams Syndrome

Scientists find new genetic clues to autism - The Checkup - The Washington Post:

"The third analysis, led by by Matthew State of Yale and colleagues, group found an association between mutations and autism that, when deleted, also play a role in Williams syndrome, a rare developmental disorder. People with that condition tend to be highly social, sensitive and empathetic. In contrast, people with autism have difficulty interpreting social cues and interacting with others.

“This relatively small genomic interval clearly holds important clues to understanding the social brain,” State said in a statement.

But given the large number of genetic variations that the analyses have identified, the findings indicate that the condition is extremely complicated, the researcher said.

“The diversity implies that a treatment for one form of autism may have no value for the majority,” Wigler said."

ABC News runs a couple of pieces on Williams Syndrome

Salk researcher gets $5.5 million grant to study Williams syndrome

The Salk Institute for Biological Studies was awarded a $5.5 million research grant today to study Williams syndrome as a way to learn more about neurological development in children.

The award from the National Institute of Child Health and Human Development could help researchers untangle the connection between genes and social behavior.

“How the brain processes social information and integrates it with other forms of perception and learning is one of the major frontiers in neuroscience,” said Ursula Bellugi, director of the Laboratory for Cognitive Neuroscience at the institute.

“Using Williams syndrome as the basis for a new approach to social neuroscience is exciting and promising, in part because its genetic basis is clearly understood, and it is associated with a very specific pattern of cognitive strengths and weaknesses and some puzzling paradoxes,” the professor said.

The condition is the result of a faulty recombination of cells during the development of sperm or egg cells, leaving nearly all sufferers lacking certain genes.

Victims are gregarious and attracted to strangers, but have difficulty understanding inanimate objects. They are beset with health problems and have a low IQ.

Bellugi said victims of the syndrome who are asked to draw a bicycle will instead draw its parts randomly across a piece of paper.

“Understanding the mechanisms and pathways underlying the organization of human social behavior is important in a wide variety of mental disorders,” Bellugi said. “By dissecting Williams syndrome, we hope to gain new insight into other neurodevelopmental disorders such as autism.”

Battling Williams syndrome - FOX23 News

Battling Williams syndrome - FOX23 News :

"Vanderbilt University is studying how music - and more - affects anxiety at this special camp for people with Williams syndrome.

'It's kind of a lesson in contradictions. How can people who have significant developmental disabilities also have pronounced and marked interest in music and musical talent,' Dr. Elisabeth Dykens asked?

The answer could lead to new treatments for all people with anxiety. Research Seth is proud to be a part of."

There is a very good and short video on the link or you can go directly to it here: http://clipsyndicate.com/video/playlist/18795/2450897?wpid=9616

President Nominates Former NAB Exec To Intellectual Disabilities Committee

President Nominates Former NAB Exec To Intellectual Disabilities Committee - 2011-05-10 21:38:04 | Broadcasting & Cable:

"President Obama has nominated former National Association of Broadcasters government affairs executive Carol Wheeler to be a member of the President's Committee for People with Intellectual Disabilities.

Wheeler, who most recently was coordinator for the Washington Chapter of Project Children, was formerly VP for government affairs with NAB as well as a consultant to America's Public Television Stations, which advocates for noncom stations in Washington.

Wheeler is the mother of a child with Williams Syndrome, a genetic disorder that can lead to cardiovascular problems and developmental and learning difficulties in children who are often also highly verbal, social and musically gifted.

'These fine public servants both bring both a depth of experience and tremendous dedication to their new roles,' said the president in announcing a series of appointments to the committee. 'Our nation will be well-served by these men and women, and I look forward to working with them in the months and years to come.'

'The mission of committee is 'to provide advice and assistance to the President of the United States and the Secretary of Health and Human Services on a broad range of topics that impact people with intellectual disabilities and the field of Intellectual Disabilities.''

iPads help kids with disabilities to learn

MILFORD, Pa. — Gabe wasn't speaking until he started using an iPad, says Ann Gillerlane, director of the Center for Developmental Disabilities.

Three-year-old Gabe (the center asked not to use his last name) has been diagnosed with Williams syndrome, a rare neurodevelopmental disorder caused by an abnormality in chromosomes, according to the Williams Syndrome Foundation. This slows Gabe's development.

Before the iPad, Gabe wasn't talking. He couldn't communicate. He and his parents, were frustrated. But when one of the staff at the center started working with Gabe on her iPad, his interest was sparked.

Then one day at the center, Gabe said "Hee Haw," and pointed to a picture of a donkey on the iPad. Since then his language skills have been improving.

Gillerlane was amazed. "I'm not the type of person to go out and buy the latest technology," Gillerlane said. "But when I saw how Gabe was responding, I knew we had to have iPads."

Apple introduced the iPad in March 2010; an unforeseen benefit has been the way people with disabilities have used the table computer to overcome communication difficulties and learn new skills.