Currently, Morris focuses her attention on finding the missing gene that leads to anxiety in Williams syndrome children. Once the gene that causes anxiety is identified, she said it can lead to more tailored treatment in the general population.
Working with the University of Nevada, Las Vegas biology department and its genetics core lab, Morris is able to use microarray technology to identify which genes are deleted or rearranged.
"We are sharing equipment and resources to advance research at both our institutions," she said. Morris and her team are able to look at the variation in each pair of chromosomes from a patient's mother and father, leading to new discoveries of genetic factors that influence Williams syndrome.
"Some individuals have very severe cardiovascular disease while others have only mild symptoms. We are trying to determine what genetic factors underlie the variability in order to find new ways to treat the manifestations of the condition. Discoveries regarding the underpinnings of arterial disease in Williams syndrome may have applicability to the treatment of arterial disease in the general population," said Morris.
While deletion of a portion of chromosome 7 leads to Williams syndrome, its duplication leads to a new syndrome called duplication of the Williams syndrome region, or "dup 7." The differences in children with these two related conditions are polar opposites: children with Williams syndrome are good with language abilities, but have poor fine motor skills while those with "dup 7" syndrome have good fine motor skills but poor speech and language skills.
Wednesday, June 16, 2010
Friday, May 21, 2010
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A fascinating study conducted by CNN for its special “Black or White: Kids on Race” series revealed that many children have racial biases very early on in life. But imagine what it would be like to not be able to recognize— or care— that someone is different? Such is the case with Williams syndrome, a rare genetic disorder that leaves those affected by it free of fear in social situations. As one mother of a child with Williams syndrome said, to her daughter, “There’s no such thing as strangers, just friends she hasn’t met yet.”
But it’s the idea of being free from racial biases has gotten attention lately. A study released last month by Current Biology suggested many children with Williams showed no signs of racial biases— or even awareness— unlike typically developing children of every other race and culture. National Public Radio recently did a string of reports on how kids with Williams syndrome and their parents struggle to function in a world that teaches children to fear the unknown.
Despite a recent show of public interest, Williams syndrome and its treatment is nothing new. For nearly two decades Children’s Hospital Boston has run a multidisciplinary clinic for people with Williams. Thrive caught up with Leslie Smoot, MD, director of Children’s Williams Syndrome Clinic, to learn more about this rare and interesting condition.
Isabelle, you see, says "I love you" to everyone: to parents at her school, to people from the neighborhood, to the salesman at Circuit City.
"Oh, all the time," Jessica says. "To Isabelle, there are no strangers — only friends she's not yet met."
The problem is that Isabelle has Williams syndrome, a rare genetic disorder with a number of symptoms. The children are often physically small and often have developmental delays. But also, kids and adults with Williams love people and are pathologically trusting: They literally have no social fear.
Researchers theorize that this is probably because of a problem with the area in their brain that regulates the manufacture and release of oxytocin. Somehow, the system in which oxytocin operates has been disrupted in a way that makes it essentially biologically impossible for kids like Isabelle to distrust.
Wednesday, May 19, 2010
But one way in which Lora particularly stands out from many people with the disorder is in her personal life.
“I’m very happy to have Mark because a lot of people with Williams Syndrome never get married,” she said.
The couple has been married for 18 years. They met while Lora was working for Churches Chicken in Kerrville as a greeter. Mark was a ranch hand at the time and would see her when he came into town.
“She was just real friendly to everybody,” he said. “On her application to Churches, she said one of her talents was giving hugs.”
The two became familiar with each other there, but they didn’t begin dating until after seeing each other at a singles Bible group. At the time, Mark knew nothing of his future wife’s condition and just assumed she merely had an uncommonly friendly disposition. And as far as her unusual facial features, all he saw was beauty.
“She’s always been the looker,” he said.
He learned about Lora’s condition when meeting his future in-laws for the first time. Like many parents of children with Williams Syndrome, Lora’s mother and step-father were highly protective of her.
Tuesday, May 18, 2010
Brooke was born with a little-understood condition known as Williams syndrome. It caused her to have emotional and mental issues, as well as accompanying physical features (small hands and feet, snub nose, very curly hair, small eyes, small stature, etc.). She is prone to temper tantrums and emotional outbursts; one minute, she can be just fine, and the next, she goes off on people by kicking, yelling, and screaming.
It is very frustrating to us because we don't know what will set her off; we just have to try to keep her calm and keep her routine as close to normal as possible. Brookie doesn't handle change very well; when one does introduce new situations to her, they have to do it gradually, or they'll have a real problem on their hands.
We are doing okay, but Brooke's outbursts can make even the simplest family outing a real chore. People tend to stare at her or say unkind remarks to us about her behavior, which, in kind, makes us uncomfortable. We are trying everything possible to help her, but it doesn't always work: Brooke has always been a very strong-willed child.
Monday, May 17, 2010
Individuals with Williams syndrome (WS) have been shown to have atypical morphology in the auditory cortex, an area associated with aspects of musicality. Some individuals with WS have demonstrated specific musical abilities, despite intellectual delays. Primary auditory cortex and planum temporale volumes were manually segmented in 25 individuals with WS and 25 control participants, and the participants also underwent testing of musical abilities. Left and right planum temporale volumes were significantly larger in the participants with WS than in controls, with no significant difference noted between groups in planum temporale asymmetry or primary auditory cortical volumes. Left planum temporale volume was significantly increased in a subgroup of the participants with WS who demonstrated specific musical strengths, as compared to the remaining WS participants, and was highly correlated with scores on a musical task. These findings suggest that differences in musical ability within WS may be in part associated with variability in the left auditory cortical region, providing further evidence of cognitive and neuroanatomical heterogeneity within this syndrome.
We examined auditory perception in Williams syndrome by investigating strategies used in organizing sound patterns into coherent units. In Experiment 1, we investigated the streaming of sound sequences into perceptual units, on the basis of pitch cues, in a group of children and adults with Williams syndrome compared to typical controls. We showed that individuals with Williams syndrome were sensitive to the same pitch cues as typical children and adults when streaming these patterns. In Experiment 2, we evaluated differences in reliance on pitch and contour cues in unfamiliar melody perception in a group of adults with Williams syndrome relative to typical control children and adults. Unlike controls who demonstrated greater proficiency when contour cues were available, adults with Williams syndrome showed no such advantage.
Twelve-year-old Kyle Knaak of Arkadelphia is just like every other kid his age. A fifth-grader at Peake Elementary School, he enjoys fishing, bowling, going to the mall and having a field day at an amusement park. He loves eating Happy Meals from McDonald’s, and is infatuated with trains.
Unlike other children, Kyle has not attended school since October.
But not by his choice.
At 9 months old he was diagnosed with a rare genetic disorder known as Williams Syndrome, which is caused by a deletion of a section of genes from chromosome 7.
His body cannot produce elastin, the tissue essential for organ growth. It affects Kyle’s brain, eyes, heart, kidneys, intestines and tendons — though any artery in his circulatory can be affected.
The disorder has affected his blood pressure. His mother, Holly, says it is typical for Kyle to have a blood pressure high enough to admit an average adult to a hospital’s intensive care unit. He is currently on four different medications to keep his blood pressure in check.
The public is invited to join in a roughly two-mile walk Saturday to raise awareness for Williams syndrome, a genetic disorder characterized by delays, disabilities and heart trouble but also by advanced social and verbal skills.
Auditory attraction: activation of visual cortex by music and sound in Williams syndrome. « COMD News
We preformed functional MRI studies examining brain responses to musical and other types of stimuli in young adults with Williams syndrome and typically developing controls. In Study 1, the Williams syndrome group exhibited unforeseen activations of the visual cortex to musical stimuli, and it was this novel finding that became the focus of two subsequent studies. Using retinotopy, color localizers, and additional sound conditions, we identified specific visual areas in subjects with Williams syndrome that were activated by both musical and nonmusical auditory stimuli. The results, similar to synthetic-like experiences, have implications for cross-modal sensory processing in typical and atypical neurodevelopment.
Anna Marie Staggers just turned 5. She has a huge smile, laughs easily, has an engaging personality and a beautiful singing voice. She's starting piano lessons in the fall.
The Dunbar Township child, daughter of Brett and Cathy Staggers, has Williams syndrome, a deletion of chromosome seven, which caused her overly social personality and has given her the gift of music. It has stunted her growth and caused other challenges.
Nineteen-year-old John Charles Lee was diagnosed with Williams Syndrome at the age of eight. The syndrome is rare and he is the only known person diagnosed with Williams in Sabine Parish.
John Charles is known all over the parish as a very friendly guy. This friendliness trait is a part of the syndrome which many people do not realize he has. He will be participating in the National Special Olympics Games in Lincoln, NE this coming July.
Educating on Williams - MarshallIndependent.com | News, Sports, Jobs, Community Info. - Marshall Independent
When her daughter Mandi Mahoney was a little more than a year old, Penny Hastings of Marshall figured there was something wrong.
"She wasn't crawling, she didn't wave 'bye-bye,'" Hastings said. Mahoney also had a heart murmur and was taken to a pediatric cardiologist in the Twin Cities where it was learned she had Williams Syndrome, a rare condition.
This week marks the first-ever Williams Syndrome Awareness Week nationwide. Hastings said getting the word out would assist them in helping people with Williams and their families by educating communities about the abilities of those with the condition and help them to achieve their full potential.
The team ran functional magnetic resonance imaging scans on 16 adults with Williams syndrome and found their brains show an enormous amount of activity in the fusiform face area, which processes information about faces.
"Adults with Williams syndrome are also devoting about twice as much of their fusiform cortex to processing faces, compared to healthy adults," said Golijeh Golarai, a research associate in psychology. "It is a pretty significant difference."
Golarai is the lead author of a paper published this week in the Journal of Neuroscience that outlines the researchers' findings.
Because people with Williams syndrome are all missing the same genes, the researchers are using their findings to ask whether the heightened brain activity they've detected is rooted in their subjects' genetic makeup.
And the answers – which the researchers hope will come from more experiments they're planning – can help determine the degree to which genetics and experience shape social behavior in Williams syndrome, making a contribution to the "nature vs. nurture" discussion.
If you mention Williams syndrome to someone you know, chances are they’ve never heard of it.
It’s a rare genetic condition, occurring about once in every 10,000 births, that causes medical and developmental problems.
The Williams Syndrome Association in Troy, Mich., plans to make the public more aware of Williams syndrome and has launched a weeklong national awareness campaign that runs through Saturday that will feature fund-raising walks and other events across the country.
Two local families with children who have Williams syndrome would like to see a local awareness project developed and are interested in organizing a Mahoning Valley event in the future.
Justin Frease, son of Linda and David Frease of Boardman, was diagnosed in 1986 when he was 6 months old.
“I can tell you, back then, no one even knew about it,” said Linda Frease.
“I was overwhelmed,” she said, explaining that she didn’t know anyone else who had Williams syndrome and found the local medical community unable to provide references. Getting in touch with the national organization proved to be a major help, she said.
This moment, a dream for teens everywhere, was especially triumphant for Diamond.
She's struggled with Williams syndrome, a rare genetic condition that causes medical and developmental problems, all her life.
“She's been through a lot, more than you could ever imagine,” said her mother, Barbara Ellison of Hikes Point. “Her being here is a blessing.”
Williams syndrome occurs once in every 10,000 births and is caused by the deletion of a certain region of chromosomes. It often causes a narrowing of the heart and blood vessels, muscle and bone problems and some degree of intellectual disability.
Barbara Ellison said tests suggest that Diamond's condition is more severe than most.
At 10 months old, she had open-heart surgery. As a baby, she had chronic urinary tract infections and asthma.
She can't read or write, and she needs constant supervision.
For Diamond, the particulars of her condition are abstractions, hard to grasp and remember.
She does know that somehow, her body fails her.“My heart,” Diamond said, patting her chest. “It keeps hurting every single day.”
"For Nubia Garza her daughter Edie is her world, but when she found out her daughter had a rare disease called Williams Syndrome, her whole world turned upside down."
Sorry, the video would not imbed but you can click the link and watch from the news site.
It's a high point in the school day for the 11-year-old fourth grader, who is put in mainstream courses when possible and in a class for developmentally delayed students the rest of the time. And it brings a smile to the face of Julie Oliveira, Audrey's special day class teacher of two years.
"She's come a long way," Oliveira said. "Before, she wasn't able to work in groups or stay on task. Now she can. And she's a hoot. She's definitely fun to have in class."
That delightful personality and expressive speech defines Audrey, the oldest child of Dean and Sabrina Hull of Modesto. She has Williams syndrome, a rare genetic condition characterized by medical problems, developmental delays and learning disabilities. But such children also have striking verbal abilities, highly social personalities and an affinity for music.
"There are a lot of silver linings," said Sabrina.
Because the condition is so rare — about one in 10,000 births — not many people know about it. So today begins the first national Williams syndrome awareness week. The Hulls will hold a gathering Saturday for other families in Northern California affected by the syndrome.
The FOX 13 Care Force is to proud support the “Walk for Williams Awareness” on Saturday, May 15 at 9 a.m. at the St. Petersburg Pier.
Williams Syndrome is a rare genetic disorder that is present at birth and can affect anyone. All money raised will support critical research initiatives and programs for individuals with Williams Syndrome.
FOX 13’s Consumer Lawyer’s son Chase has Williams Syndrome. Eric is a proud parent and an advocate for the Williams Syndrome Association.
Riley is your typical kindergartner: a social butterfly, curious about the world around her and happy as can be on a perfect spring evening playing with her family in the backyard.
But even as she chases Jacob playing tag, Riley’s parents Scott and Becky explain the struggles Riley and the family have had to work through in her short six years, and look forward to the future.R
Riley Henson has Williams Syndrome, a rare genetic disorder caused by the deletion of the number seven chromosome resulting in the loss of more than 25 genes.
Jason Anderson, 25, and Matthew Pow, 24, have lots in common.
Both love sports and music, enjoy their jobs and are good friends. They also share something else – a rare, genetic disorder called Williams Syndrome.
It’s virtually unknown to the general public, educators and many doctors. Yet it’s touched families in the local area, and Jason and Matthew are participating with them Saturday, May 15, in the first-ever Walk for Williams.
“We’re hoping to raise at least $2,000,” said Jason’s mom, Malia Anderson of Chantilly’s Armfield Farm community. “But the whole purpose is to raise awareness, even more than funds. People can just come out, walk and have fun.”
Matthew’s mother, Laurie Pow of Fairfax, near Burke Centre, agreed. Her son was diagnosed at 6 months old. “No one knew anything about it,” she said.
Now, Chantilly is among more than 35 communities across the U.S. participating in the inaugural Williams Syndrome Awareness Week, May 9-15. Area residents, plus honor and SGA students from Chantilly High and Lees Corner Elementary, will walk.
Eighteen-year-old Tricia Haas of Naperville doesn't define herself by her disabilities. Instead she uses her unique gifts and charm. Haas has Williams syndrome, which commonly results in developmental delays, learning disabilities and potential medical problems. Tricia also wants to help raise awareness about the rare genetic disorder.
"I don't always understand things at first. So people have to explain them to me," said Tricia, who was diagnosed shortly after birth when she underwent heart surgery. "I explain this to people, and they understand what it's like to have my disability. It doesn't make me that different than other people."
We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered. (J Card Surg 2010;25:339-342)
Sunday, May 2, 2010
This makes it difficult not only to hold a job as an adult, but also, Pober says, to fulfill one of their most intensely felt needs: because they are compulsively social they yearn to be surrounded by dear friends.
"To me it's one of the heartbreaks, the sadnesses of Williams syndrome," Pober says. "Most are rather socially isolated."
Pober says this is because in order to get to know someone you have to do turn taking in dialogue. "You listen to what I say, I listen to what you say, and then we build on that," Pober says. "But to sustain the attention and build on the dialogue enough to really get to know someone is hard for many folks with Williams syndrome."
Pober says few people with William's syndrome marry, and even fewer have children. But this may be changing, Pober says. Now there are new social training programs for people with Williams. These new treatments might ultimately transform the long term prospects of people with William.
Tuesday, April 27, 2010
But not everyone is convinced. Aliya Saperstein from the University of Oregon praised the study’s “clever research design” and said that it shows the Williams Syndrome children are clearly less biased than normal ones. That is interesting in itself, but Saperstein is sceptical that they lack racial bias entirely. In the PRAM-II test, Santos claims that children without any biases should make pro-white responses half of the time, but she showed that the Williams syndrome children did so 64% of the time. This wasn’t significantly different from a chance result but the estimate was based on a very small sample size. Given larger numbers, those extra fourteen percentage points might indicate an important difference.
Robert Livingston from Northwestern University agrees. He says, “I think that it’s problematic to make strong conclusions on the basis of null findings, particularly with a sample as small as 20 WS children.”
It’s also worth noting that the PRAM-II test doesn’t give children the option of a truly unbiased response. They can’t say that the story could fit either image equally – they can only give fewer pro-white answers. As Saperstein says, “The results don’t demonstrate or prove an absence of bias. And like all similar tests, the study may tap partly into one’s knowledge of social stereotypes not just one’s personal biases.”
Livingston also notes that when we’re talking about racial bias, there is a difference between stereotypes, which are based on our beliefs, and prejudices, which are based on our feelings and evaluations of other people. The Williams Syndrome children may not show prejudice, but Livingston says, “Very few if any people who do not show stereotypes.”
Regardless of whether the Williams Syndrome children lack racial bias altogether, it’s clear that they aren’t affected by it to the same extent as normal children. Santos’s results also suggest that racial and gender biases have different origins. The former is borne at least partly out of social fear while the latter has different roots.
Monday, April 26, 2010
Full audio version is available by following the link above.
"The drama class had just gotten out, and everybody was standing around talking when Jessica noticed her 9-year-old, Isabelle, making her way over to an elderly woman Jessica had never seen. The woman was neatly dressed, most likely just a well-meaning suburban grandmother who had come to retrieve a grandchild on behalf of an over-extended parent, most likely a perfectly harmless person.
Isabelle, as she usually did, exchanged hellos and struck up a conversation. It was the usual post-drama-class conversation until about two minutes in. Then Isabelle dropped the bomb.
'Will you take me? Can I go home with you?' Jessica heard Isabelle plead.
Jessica's daughter, Isabelle, has Williams syndrome, a genetic disorder with a number of symptoms. Children with Williams are often physically small and frequently have developmental delays. But also, kids and adults with Williams love people, and they are literally pathologically trusting. They have no social fear. Researchers theorize that this is probably because of a problem in their limbic system, the part of the brain that regulates emotion. There appears to be a disregulation in one of the chemicals (oxytocin) that signals when to trust and when to distrust.
This means that it is essentially biologically impossible for kids like Isabelle to distrust."
"Lace up your sneakers and get ready to walk! The Remedy Band will be participating in the ‘Walk For Williams’ charity event on May 15th, 2010 at Willis Road Elementary School in Sharpsburg, GA. Registration for the event will take place at 9 AM, with the walk getting underway at 10 AM.
In addition to the walk for charity, there will be a silent auction that includes, among other items, 4 sets of two Atlanta Braves Tickets with Diamond Preferred Valet Parking passes. There will also be a 50/50 raffle and games and activities for kids and adults alike.
Along with heightening awareness about Williams Syndrome, the goal of the event is to raise $2,000 and all proceeds from the event will be donated to the Williams Syndrome Association."
Friday, April 23, 2010
"Researchers, led by Dr. Julie R. Korenberg, found that variations in the expression of STX1A could account for 15.6 percent of cognitive variation in a group of 65 WS patients, a very high level of confidence in comparison to prior genetic studies.
STX1A is involved in the electrochemical processes that occur at the brain's synapses.
The study describes a new approach in determining the relationship between gene expression and intelligence in patients with WS- a neurodevelopmental disorder caused by the deletion of only two dozen genes from chromosome 7, a tiny fraction of the almost 30,000 genes found in humans.
'Williams Syndrome patients are missing a very, very small amount of genetic material. In almost all other respects, their make-up is the same as the general population, so we knew to take a very close look at a small number of genes. We analyzed ten different genes, but the data spoke, and STX1A clearly stood out in relation to the different patients' intelligence levels,' Korenberg said.
STX1A has a fundamental role in the brain's neurotransmission machinery. It supports the process by which electrical signals speed from one neuron to the next.
'In terms of the brain, we're talking about a basic utility when we look at STX1A,' said Korenberg.
The study points the way to further research that may have long-range benefits for WS patients as well as the general population.
Korenberg suggested there may be pharmaceutical treatments in the future that could help enhance synaptic function.
She said that the researchers overcame obstacles with some creative problem solving.
Since brain cells from live patients were unavailable for study, lymphoblastoid cells from the lymph system grown in culture provided the genetic material to analyze.
In addition, the researchers developed a more precise measure of WS intelligence test data, using a technique called Principal Component Analysis (PCA).
In comparison to standardized IQ tests best suited for the general population, the PCA approach was able to better represent a baseline pattern of intelligence in WS patients.
The WS baseline adjusted for relative strengths and weaknesses in the study group, and was able to illuminate the impact of specific genes like STX1A more accurately.
The study was published in the open access/online scientific jounal PLoS ONE. (ANI)"
"According to recent research, those afflicted by the rare genetic disorder known as Williams Syndrome substantially less prone to develop racist attitudes than those without Williams. Host Michel Martin takes a look at the study with one of its authors, Dr. Andreas Meyer-Lundenberg."
Friday, April 16, 2010
"Children with Williams syndrome (WS) have been reported to exhibit an unusual cognitive profile characterized by marked preservation of linguistic abilities and poor visuospatial abilities against a backdrop of generalized mental retardation. Much of the data documenting this profile come from studies of older children and adults with WS. Very few studies have reported findings from the preschool and early school-age period. As a result, little is known about the early development of cognitive processes in children with WS. Capirci, Sabbadini, and Volterra (1996) reported data from a longitudinal case study of early language development in a young child with WS. This article presents the longitudinal profile of visuospatial abilities in this same child. Data on copying and free drawing collected over a period extending from late preschool to early school age are reported. It is clear from these data that this child does indeed exhibit deficits in visuospatial abilities. Her performance clearly improved with age, but deficits persist."
You can download the short article here.
"Stereotypes — often implicit attributions to an individual based on group membership categories such as race, religion, age, gender, or nationality — are ubiquitous in human interactions. Even three-year old children clearly prefer their own ethnic group and discriminate against individuals of different ethnicities . While stereotypes may enable rapid behavioural decisions with incomplete information, such biases can lead to conflicts and discrimination, especially because stereotypes can be implicit and automatic , making an understanding of the origin of stereotypes an important scientific and socio-political topic. An important process invoked by out-groups is social fear . A unique opportunity to study the contribution of this mechanism to stereotypes is afforded by individuals with the microdeletion disorder Williams syndrome (WS), in which social fear is absent, leading to an unusually friendly, high approachability behaviour, including towards strangers . Here we show that children with WS lack racial stereotyping, though they retain gender stereotyping, compared to matched typically developing children. Our data indicate that mechanisms for the emergence of gender versus racial bias are neurogenetically dissociable. Specifically, because WS is associated with reduced social fear, our data support a role of social fear processing in the emergence of racial, but not gender, stereotyping."
"Most kids demonstrate a clear-cut preference for their own ethnic group by the time they turn 3. But children with a rare genetic disorder called Williams syndrome don’t have any racial biases. And while they do possess the gender stereotypes that other kids have, they don’t experience normal social anxiety, according to study researcher Andreas Meyer-Lindenberg of Germany’s University of Heidelberg.
A gene deletion that affects the brain and other organs is what causes Williams syndrome, and kids with the disorder are 'hypersocial,' says Meyer-Lindenberg.
'The whole concept [of social anxiety] would be foreign to them,' Meyer-Lindenberg told LiveScience.
In his study, kids without Williams syndrome assigned positive traits like friendliness to photos of people who were the same race as they were. When they were asked something with a negative connotation (like, 'which is the naughty boy?'), they mostly pointed to pictures of people who were a different race."
Monday, March 29, 2010
"The West Coast-based Academy of Country Music is fully extending its charitable reach to Nashville by funding what will now be called the ACM Lifting Lives Music Camp.
The ACM’s $30,000 grant funds scholarships and assures the fiscal health of the camp, which has run for six summers as the Vanderbilt Kennedy Center Music Camp. The week-long program, which takes place this summer from June 27-July 2, helps people with Williams Syndrome and other developmental disabilities. All campers are at least 16 years old, and all have an interest in music: People with Williams Syndrome, a rare genetic disorder, are often drawn to music, and they have a higher statistical rate of musicality than the general population."
Sunday, March 28, 2010
"We propose that using moving whole face stimuli individuals with WS can infer mental states and the eye region plays a particularly important role in performance."
Saturday, March 27, 2010
"ALBUQUERQUE, N.M., MARCH 26, 2010 — A pioneering professor and investigator at the forefront of genetic services in the United Kingdom and who helped define rare genetic diseases is the 2010 recipient of the March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences.
Dian Donnai, a professor of medical genetics at the University of Manchester and the current President of the European Society for Human Genetics, is known for her research on rare genetic diseases, such as Williams syndrome, in which individuals have heart defects and cognitive disabilities."
Friday, March 26, 2010
"Anthony Miles Tamati Watkins, also known as Miles Samson, and Matthew Evans-Kent, both 15, appeared before Judge Brian Callaghan in the Invercargill District Court yesterday where they admitted joint charges of wounding with intent to cause grievous bodily harm and aggravated burglary, stemming from the attack on the man on November 4.
Three adult men, aged 19, 17 and 33, are before the court or have already been sentenced on the same charges for their part in the attack.
The charges are indictable, meaning, despite their age, the pair were dealt with in district court.
Both the charges carry a maximum sentence of 14 years' jail.
According to the police summary of facts, the victim is a 19-year-old man who suffers from a genetic and cardio disorder called Williams Syndrome, giving him the mental age of an 11 or 12-year-old."
Mental Health Concerns in Williams Syndrome: Intervention Considerations and Illustrations from Case Examples
"In this article, we review the literature about mental health in people with Williams syndrome, outline the need for mental health treatment in Williams syndrome that is informed by the cognitive and behavioral phenotype, and highlight issues to consider when designing such interventions based on case examples. (Contains 7 figures and 3 tables.)"
Wednesday, March 24, 2010
"Although the WS and DS groups were able to achieve the criterion and normalize stride length in both conditions, the WS group significantly reduced their gait speed and cadence in the externally cued condition when compared to controls. In the internally cued condition, the WS group also showed reduced speed and increased intra-individual variability in speed and stride time. These findings suggest that the primary deficit is not one of difficulty regulating stride length in WS, but rather indicates more widespread dysfunction within visuomotor regions."
Monday, March 22, 2010
"Williams Syndrome (WS) is described as displaying a dissociation within memory systems. As the integrity of hippocampal formation (HF) is determinant for memory performance, we examined HF volumes and its association with memory measures in a group of WS and in a typically development group. A significantly reduced intracranial content was found in WS, despite no differences were observed for HF absolute volumes between groups. When volumes were normalized, left HF was increased in WS. Moreover, a lack of the normal right > left HF asymmetry was observed in WS. No positive correlations were found between volumetric and neurocognitive data in WS. In sum, a relative enlargement of HF and atypical patterns of asymmetry suggest abnormal brain development in WS."
Thursday, March 11, 2010
Wednesday, March 10, 2010
This is a good quote to look at in the original source - click the link above.
"We think that when we are showing students the same thing we are standardizing things.” This view goes against the grain how our brains work. Rose shows an example of students with Williams Syndrome and Down Syndrome and how the first sees the details of an image (the Y) and the latter sees the big picture (the D). Neither sees the same image even though on paper the image includes the details and the larger picture.
Students struggle with reading because they do not have the recognition networks, strategic networks, and affective networks. They cannot recognize words, have a plan for reading, or do not have the scaffolding to be able to read.
“Disabilities used to be thought as residential in the individual…disabilities are in the exchange between the individual and his or her environment…what are the demands of the environment around you?”
In order to provide classroom materials for students with different print disabilities you might need to use paper, a computer, different colors, Braille, audio, etc. Changes and adjustments can be made for individuals."
Friday, March 5, 2010
Time: May 15, 2010 from 9am to 2pm
City/Town: Losantville, Indiana
This is a fundraiser for Williams Syndrome Association. See web page for details.
"Approximately 15 youngsters born with Williams syndrome, a rare genetic disorder, gathered in Paris this past weekend for a day of activities and networking.
Ranging in age from 13 to 21, participants came from Lamar and neighboring counties, the Dallas/Fort Worth area, Oklahoma and Louisiana. “We try to meet three or four times a year so the children can spend time together while the parents visit,” said Karen Justiss, whose son, Kaleb, 14, has Williams syndrome, also took part in the festivities.
The youngsters, sporting Teen Team T-shirts supplied by Howland Pecan Co., rode in a Hummer limo to the Eiffel tower for their group picture. Following the photo opportunity, the group met at the First Baptist Church Family Activity Center where they were greeted by the Paris 4-H Club, whose members brought a selection of farm animals. An archery shoot was another activity the group took part in, followed by a hamburger supper supplied by Sonic.
The group danced to music provided by Marc and Mary Payne then enjoyed game activities and basketball.
The evening ended with a dip in the pool and Jacuzzi at Comfort Suites."
Monday, March 1, 2010
"NEW YORK (Reuters Health) - Most patients with Williams syndrome do not require intervention for cardiovascular abnormalities, and their risk for premature mortality is low, according to a report online in the February 8th American Journal of Cardiology.
The lead author, Dr. R. Thomas Collins II from Children's Hospital of Philadelphia, told Reuters Health by email, 'Based on our research, we can tell families the likelihood that their child with Williams will need an intervention on certain lesions and what sort of timeline that will include. A child with mild supravalvular aortic stenosis is highly unlikely to ever need an intervention on that lesion.'
In their study of 270 patients with Williams syndrome, Dr. Collins and his colleagues found that 221 (82%) had cardiovascular abnormalities. The most common defects were supravalvular aortic stenosis (121 patients, 45%), peripheral pulmonary stenosis (99, 37%), aortic coarctation (37, 14%), arterial stenosis (37, 14%), and supravalvular pulmonary stenosis (31, 11%).
Follow-up averaged roughly 9 years but ranged as high as 57 years.
Among patients with supravalvular aortic stenosis, 16 (13%) showed spontaneous improvement in the severity grade during follow-up, and 12 (16%) of the 77 with mild stenosis had complete resolution. Only 12 patients (10%) had progressively more severe supravalvular aortic stenosis during follow-up.
'The prevailing dogma, based on a few papers with very small numbers, was that supravalvular aortic stenosis 'always' progresses,' Dr. Collins said. 'Based on our data, that is not only not always the case; in fact we found that lesions of that severity actually improve more often than they progress, and that unless the patient presented in the first year of life, they never went on to need an intervention for that mild supravalvular aortic stenosis.'
Results were similar for peripheral pulmonary stenosis, with 37 (37%) showing spontaneous improvement. Of the 62 patients with mild disease, 25 (40%) had complete resolution. Only 2 patients with moderate peripheral pulmonary stenosis progressed to severe stenosis."
Sunday, February 21, 2010
"The main results can be summarized as follows: (1) people with WS have difficulties to understand idioms; (2) WS group seems to perform partly as typically developing children for the acquisition of metapragmatic knowledge of linguistic convention: there is a progressive increase in metapragmatic knowledge of linguistic convention as age increased. Our results indicate a delay of acquisition in idiom comprehension in Williams’ syndrome."
"While infants with WS were able to discriminate between 2 and 3 elements when total area was confounded with numerosity, the same infants did not discriminate between 8 and 16 elements, when number was not confounded with continuous variables. These findings suggest that a system for tracking the features of small numbers of object (object-file representation) may be functional in WS, while large number discrimination is impaired from an early age onwards. Finally, we argue that individual differences in large number processing in infancy are more likely than small number processing to be predictive of later development of numerical cognition."
"As athletes in Vancouver push themselves in the quest for gold medals, more than 100 athletes participated in the first-annual Special Olympics indoor track invitational on Saturday, many for the joy of competition.
One of the contestants, Nicolas Licon, has a genetic condition called Williams Syndrome. His mother, Wendy, proudly watched him and others participate in track and field events upon an indoor track installed inside the convention center in Albuquerque."
Friday, February 19, 2010
I brought Ben to Children's Memorial Hospital in Chicago on Wednesday the 17th for what we thought was a 'baseline' MRI and CT scan of his heart. As a child with Williams Syndrome and having had heart surgery as an infant, we have been constantly monitoring his heart and artery health, so we expected this to be one more insight into their condition.
Insight we got, and it has led to a several day wait in the hospital while surgery is scheduled to open a nearly blocked coronary artery."
Thursday, February 18, 2010
"In conclusion, CVAs are common in patients with WS, but supravalvar aortic stenosis and peripheral pulmonary stenosis occurred less frequently in this large cohort than previously reported. In patients with WS and CVAs, interventions are common and usually occur by 5 years of age. Most patients with WS do not require intervention during long-term follow-up, and the overall mortality has been low."
"We report a case of sudden death at the time of tonsillectomy/adenoidectomy and bilateral tympanostomy tube placement in a child with Williams syndrome. All children with Williams syndrome should have a thorough cardiac evaluation before undergoing general anesthesia for any otolaryngologic procedure."
Severe Eating Disorder in a 28-Year-Old Man With William's Syndrome -- Young et al. 166 (1): 25 -- Am J Psychiatry
"'Mr. T' was a 28-year-old man with William’s syndrome who was admitted to a university-based inpatient psychiatric unit for evaluation and treatment of severe malnutrition and food refusal. At 5 feet 5 inches tall, his presentation weight of 64.6 lb rendered a body mass index of 10.7 kg/m2. Elfin faced, grinning, genial, with limited intellectual functioning, and in the company of his parents, he arrived on the unit carrying a book on drag racing and a magazine for drummers. Although never in his life heavier than 78 lb, as a result of increasingly restricted patterns of eating, Mr. T lost 10 lb during the 2 months before admission. His parents and primary care physician were deeply concerned and requested inpatient evaluation, medical stabilization, and treatment of Mr. T’s presumed eating disorder.
Because Mr. T’s I.Q. had been previously assessed at about 80, although his parents provided much of the history, Mr. T offered what information and perspectives he could regarding his symptoms, behaviors, and his understanding of their causes. Mr. T’s stated chief complaint was 'I get backed up when I eat, so I’m losing weight.' He was not concerned about his current weight but realized that his parents were worried about his weight and health. For their part, Mr. T’s parents worried about not having had formal training in parenting and managing the dietary habits of an adult with a possible eating disorder. They wanted instruction in how to constructively monitor and encourage healthy eating without being overbearing."
Wednesday, February 17, 2010
Tuesday, February 16, 2010
"Pulmonary artery diverticulum involving the main pulmonary artery was documented in all patients with Williams syndrome, while none of the patients in the other group had it. It originated at the bifurcation of the pulmonary artery in all. In conclusion, the angiographic appearance of a diverticulum as an extension of the main pulmonary artery is a consistent finding in patients with Williams syndrome. Compared to the classically described findings of supravalvar aortic stenosis or PPS, pulmonary artery diverticulum can be considered as a pathognomonic feature of Williams syndrome."
"Julie Busen's daughter Grace, 7, completed the program in the fall. She was used to receiving 99 percent of her nutrition through a tube.
Born premature and diagnosed with Williams Syndrome, a genetic disorder that causes development delays, at age 2, Grace started using the tube at 18 months old because she was not growing enough."
Tuesday, February 9, 2010
"A CHARITY fashion show proved so popular that two events were held on the same night so more people could enjoy it.
Organisers of the event at The Grand Hotel, in Tynemouth, were left amazed at the response to their show, selling out the 120 tickets within hours.
And a second show was organised – held an hour later – and helped raise a total of £3,025.50 on the night, with money still coming in.
The show was organised by Decote Dance and So&So Hairdressing, as they looked to raise money for the North East Schools Outreach Program, which helps youngsters diagnosed with Williams Syndrome and other learning difficulties."
Friday, February 5, 2010
"Easter Seals helps kids like Scott Carignan, who came to wish Tina well with with his brother, Heath, and dad, Robert.
Scott has Williams syndrome, a genetic condition that leads to developmental issues. His dad says thanks to early intervention therapy through the Easter Seals, at two-and-a-half, he's already a success story.
'At first, he wasn't crawling, couldn't sit up or even spin in a circle on his belly. And after about six months of physical therapy he was moving and climbing stairs and jumping,' says Robert Carignan.
These days, Scott's moving quite well."
"Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. Methods: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS."
Tuesday, February 2, 2010
"I would argue, as have others, that this WS syndrome-specific cognitive stereotype is largely due to the fact that historically MR/ID researchers only had the V/P organized Wechsler batteries as their primary IQ battery...and that the 'profile' may be due to this research being constrained by batteries that did not validly measure a greater breadth of cognitive functioning. This is not a criticism of the past research, as researchers had limited theories of intelligence and measures of constructs from which to work. However, now that CHC theory has emerged as the consensus psychometric model of cognitive abilities and, more importantly, there are a significant number of well-standardized and psychometrically sound IQ batteries of multiple cognitive abilities, I'm not surprised that a syndrome with a strong genetic core, which typically results in more within-group similarity, when measured by more contemporary CHC-based IQ batteries display considerable variability/heterogeneity in patterns of cognitive abilities.
Below is the abstract for 2005 study that reported that WS individuals do NOT display the classic and historical syndrome-specific pattern of cognitive strengths and weaknesses when measured with a more contemporary CHC-based cognitive battery (WJ-R: conflict of interest note--I am a coauthor of the next edition..the WJ III).
This study clearly suggests that even a population of individuals with a shared genetic causal mechanism display significant individual differences in patterns of cognitive abilities. If this is found in ID/MR populations with a strong shared genetic causal mechanism, one would be hard-pressed to argue that such variability does not exist for more milder forms of ID/MR and the general population.
My point (again)---I'm very concerned that the AAIDD 11th Edition ID manual's 'stuck on g' position is out of synch with contemporary intelligence theory and measurement and has the potential to cause serious harm when potentially life-altering decisions are made on the basis of a single g-based composite IQ scores that ignores the heterogeneity of human cognitive abilities across the ability spectrum and different disorders.
Porter, M. A. & Coltheart, M. Cognitive Heterogeneity in Williams Syndrome. Developmental Neuropsychology, 27 (2), 275-306."
Navigation ability may be linked to genes | Machines Like Us: "In the study, Landau's team challenged people with Williams syndrome to watch while someone hid an object beneath a small cloth flap in one corner of a small rectangular room with four solid black walls that had no landmarks. Subjects were then blindfolded and spun around (think 'Pin the Tail on the Donkey') for about 10 seconds to disorient them. Once the blindfold was taken off, the subjects were asked to find the hidden object.
According to Landau, the people with Williams syndrome searched the four corners randomly; indicating that their ability to mentally visualize the layout of the room and quickly find which corner held the hidden object is severely impaired.
'They searched the room for the hidden object randomly, as if they had never before seen the overall geometry of the room or the lengths of the walls and their geometric – left and right – relation to each other,' Landau explained. 'If they could imagine the overall shape of the room's layout – that there are four walls, two of them long and two of them short and that the toy was hidden in a corner that has a short wall on the right and the long wall on the left – then they should have guessed that one of the two 'geometrically equivalent corners' was the right place. This is what typically developing humans do, as early as 18 months of age.'
Control subjects (healthy college-aged students) responded more typically, searching for the object in one of the two geometrically equivalent corners, as has been found in studies by many other investigators.
According to Landau, the results of this study provides another clue to the link between how genes work, how brains develop and become specialized and what can go wrong to result in very basic cognitive system malfunctioning.
'Although we are quite far from understanding the links between the specific genes that are missing in Williams syndrome and the behavior they show, such as failure to reorient, it is clear that the missing genes ultimately have some effect on the brain,' she said. 'Our evidence is the first to directly show a substantial deficit in this reorientation system that is caused by missing genes in humans.'"
Sunday, January 31, 2010
"Two studies were conducted to consider the looking behavior of infants and toddlers with Williams syndrome (WS). In Study 1, the looking behavior of a 10-month-old girl with WS during play sessions with her mother and with a stranger was compared to that of 2 groups of infants who were developing normally (ND), 1 matched for chronological age and the other for developmental age. The infant with WS spent more than twice as much time looking at her mother as the infants in either contrast group did. She also spent twice as much time looking at the stranger. In addition, during 78% of this time, her gaze at the stranger was coded as extremely intense. Looks of this intensity were virtually never made by the ND infants."
Thursday, January 28, 2010
Wednesday, January 27, 2010
"Dr. Henry Chu has a heart for special need dental patients, people with mental or physical challenges who can’t sit still in a regular office setting. One of his patients, 31-year-old Meghann Hooper, has a condition called Williams Syndrome. It gives her extreme anxiety and a gag reflex that has kept her out of the dental chair for year. Chu put her under and gave her the care she needed.
“Dr. Chu gave me some fillings,” Hooper said. “He took a couple of teeth out…and that was it.”
Operating room space can be hard to find. That’s why Chu and his partners are building the Trinity Surgery Center at 2116 Babcock Road in San Antonio’s medical center. It will be a 65-hundred square foot, fully licensed surgery center specifically for special needs children and adults.
“Maybe they have epilepsy and they’re not able to sit still. Or they have Down’s Syndrome and they don’t even really understand why they’re having the work done,” Chu explained. “Our main goal is to do dental rehabilitation. And most of the patients coming to us, many of them have not been to the dentist in ten or 20 years.”
When dentists put these patients under and reverse years of damage, the results are dramatic. For the estimated 30,000 special needs individuals in San Antonio, the new facility will be a welcome addition.
“You know what? I think it’s a wonderful idea to have that because it’s a lot easier for me,” Hooper said. “I can be scared of it, but it’s a lot easier.”"
Tuesday, January 26, 2010
"Two talented young ladies giggle excitedly as they prepare for an upcoming performance as MnMs. Megan Neal and Maria Sexton began rehearsing together in September 2009 at Music Therapy Services in Anderson Township where both have studied music for several years.
'Building a relationship through music was the primary goal for these girls who sometimes have difficulty making friends due to their disabilities,' explains music therapist Mimi Sinclair. Megan has Asperger's Syndrome and Maria has Williams Syndrome. 'Both are amazingly gifted musicians and it's so wonderful to see them have fun together,' Sinclair says. Megan studies violin, guitar, piano, and voice. She also sings in the Cincinnati Children's Choir. Maria studies keyboard and sings in her school chorus.
They will perform this Saturday, January 30, at 'An Evening of Celebration' fundraiser for Applied Behavioral Services Autism Learning Center at Molloy's on the Green. Also performing are Team Lachey and Chaselounge."
Saturday, January 23, 2010
The January 2010 issue of the New England Journal of Medicine has an excellent summary article on Williams Syndrome. A free 21 day trial membership can be started to download the entire article in pdf format.
"Williams–Beuren syndrome (also known as Williams' syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic phenotype of Williams–Beuren syndrome is unknown, but hypoexpression of gene products is likely to be involved. Estimated to occur in approximately 1 in 10,000 persons,1 Williams–Beuren syndrome is a microdeletion disorder, or contiguous-gene-deletion disorder, that can serve as a model for the study of genotype–phenotype correlations and potentially reveal
. . ."
Wednesday, January 20, 2010
Comprehension of spatial language in Williams syndrome: Evidence for impaired spatial representation of verbal descriptions; Clinical Linguistics & Phonetics - 21(9):Pages 689-704 - Informa Healthcare
"Results demonstrated that individuals with Williams syndrome were selectively impaired on the second task relative to controls. The study therefore provides support for previous work demonstrating impaired comprehension of spatial language in this population. Furthermore, the results suggest that such impairments reflect a fundamental problem with processing spatial descriptions rather than merely a poor understanding of the semantics of spatial terms, which in turn has implications for the interaction between spatial abilities and language processing in general."
"Metonyms may be part of vocabulary and treated as synonyms in Williams syndrome, while metaphor engages additional cognitive mechanisms outside language that develop atypically in this disorder. Despite earlier reports that emphasize good language skills, the Williams syndrome language system shows anomalies compared with typical development."
Thursday, January 14, 2010
Sudden cardiac death under anesthesia in pediatric patient with williams syndrome: A case report and review of literature
There is quite a lot to digest in this particular article, but it is likely information that your pediatric cardiologist (unless specializing in WS) is unaware of.
"In conclusion, patients with WS present many peri-operative and peri-procedural challenges. A thorough pre-operative/pre-procedure screening is suggested to identify patients with anatomical abnormalities which may result in coronary artery involvement. Even with appropriate care, sudden cardiac arrest and death have been reported. Unfortunately, many of these patients are refractory to standard resuscitation protocols. Given these concerns, a thorough explanation of the risk-benefit ratio should be considered whenever diagnostic tests are considered, in patients with WS, along with a thorough discussion with parents regarding the potential risks involved."
Sunday, January 10, 2010
"Two numerical systems—the analogue magnitude system and verbal retrieval—were investigated in Williams syndrome (WS) with three numerical tasks: simple addition, simple multiplication, and number comparison. A new matching technique was introduced in selecting the proper control groups. The WS group was relatively fast in the addition and multiplication tasks, but was slow in number comparison. No reverse numerical effect was observed in the comparison task, and the distance effect was stronger than that in the control groups. The findings indicate a profile with an impaired analogue magnitude system and less impaired verbal retrieval in Williams syndrome."
Friday, January 8, 2010
Anna Pendrak has a great site with this list of books on WS:
"Books on Williams Syndrome
* Fulfilling Dreams - The WS Parent Handbook
* Journey from Cognition to Brain to Gene: Perspectives from Williams Syndrome
* Language Availabilities in Williams Syndrome (Neurocognitive Developments and Impairments)
* The (Strangest) Song: One Father's Quest to Help His Daughter Find Her Voice
* The Official Parent's Sourcebook on Williams Syndrome: A Revised and Updated Directory for the Internet Age
* Understanding Williams Syndrome: Behavioral Patterns and Interventions
* Variability of the Cranial And Dental Phenotype in William's Syndrome
* Williams Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers
* Williams Syndrome Across Languages (Language Acquisition and Language Disorders)
* Williams Syndrome: A Special Double Issue of developmental Neuropsychology (Developmental Neuropsychology)
* Williams Syndrome: Approaches to Intervention
* Williams-Beuren Syndrome: Research, Evaluation, and Treatment"
"This study investigated knowledge of binding and raising in two groups of children with Williams syndrome (WS), 6-12 and 12-16-years-old, compared to typically developing (TD) controls matched on non-verbal MA, verbal MA, and grammar. In typical development, difficulties interpreting pronouns, but not reflexives, persist until the age of around 6, while raising is not mastered until about the age of 8 or 9. If grammar in WS is delayed, but develops in a fashion parallel to TD population, similar patterns of difficulties may be expected, although it has not been established whether the grammatical development is ever complete in the individuals with this disorder. Knowledge of the principle of binding which states that a reflexive must have a c-commanding antecedent, was found to be intact in all the participants, in line with previous reports in the literature. In contrast, children with WS younger than 12 showed a poorer performance on personal pronouns, like two groups of younger matched TD controls, suggesting a previously unreported delay in the acquisition of constraints regulating coreferential interpretation of pronouns. Both groups of children with WS showed an extremely limited comprehension of raised, as opposed to unraised structures. The revealed patterns indicate that, like in unimpaired populations, different aspects of grammar mature at distinct stages of language development in WS: reflexive binding is acquired earlier than constraints governing coreference. However, development of raising seems exceptionally delayed, and perhaps even unattainable, as data from several adults with WS studied in Perovic and Wexler (2006) show. If, as hypothesized by Hirsch and Wexler, the late development of raising is related in TD children to lack of maturation of the knowledge of A-chains or defective phases, it seems reasonable to hypothesize that the even later development of these structures in WS is related to an even later (if ever) maturation of the knowledge of these grammatical forms."
"Williams Syndrome and Duplication of the Williams Syndrome Region: Cognition, Language, and Psychopathology
Waisman Center, John D. Wiley Conference Center (Room T216)
1500 Highland Ave.
Madison, WI 53705
For more information:
See the Waisman Center Web Site or contact Teresa Palumbo at (608) 263-5837 or firstname.lastname@example.org.
John D. Wiley Seminar Series with Carolyn B. Mervis, PhD, Professor, Department of Psychological and Brain Sciences, University of Louisville."
Monday, January 4, 2010
"Forty three children with Williams syndrome and 124 control subjects had their eyes photographed. The photographs were examined by three ophthalmologists and four geneticists of varying experience. A stellate pattern was noted more often in the irides of patients with Williams syndrome (51%) than in those of the control subjects (12%), and was more difficult to detect, or was absent, in heavily pigmented irides. We conclude that the stellate pattern is of diagnostic importance, particularly if the pattern is carefully defined and the clinician is experienced."