Baby Cody recovering after open heart surgery

Baby Cody recovering after open heart surgery | KOMO News - Seattle, Washington | Local & Regional:

"Cody suffers from Williams Syndrome, a genetic disorder involving heart and vessel problems that sent Cody into cardiac arrest in the past.

'When I watched him go into cardiac arrest and when they told me my son was going to die, (it) was a lot worse than I ever thought could happen when they said what was wrong,' Mitchell said.

Doctors have since told Mitchell that they're lucky Cody has even made it this far.

'I kind of felt lost when they said there was nothing they could do for him,' she said.

Fortunately, Michell and her family found the Cleveland Clinic and a doctor who said there was something he could do for her son.

'And although I thought it was going to be a challenging case, I said, 'Sure, we can do this,'' said Dr. Constantine Mavroudis.

Believe it or not, doctors used a Gortex patch - made of the same material as waterproof clothing - to make Cody's pulmonary arteries larger."

Rare condition gives woman low IQ, perfect pitch

State-Journal.com - Rare condition gives woman low IQ, perfect pitch:

"Gloria Lenhoff can’t read music, but the 54-year-old Stewart Home School resident has spent her life learning more than 2,000 songs by ear.

Lenhoff has Williams Syndrome, a rare genetic condition that gave her both an IQ of 55 and astonishing musical talent."

Video is hosted on the site.

Alagille Syndrome or Williams syndrome - a Potential Missed Diagnosis

Biliary hypoplasia in Williams syndrome

How similar presenting issues led to a slower diagnosis of Williams Syndrome...

Conjugated hyperbilirubinaemia and biliary hypoplasia are not known to be features of Williams syndrome.

In this case, the initial presenting features were those of prolonged jaundice, biliary hypoplasia, and pulmonary branch stenosis, leading to the incorrect diagnosis of Alagille syndrome. Our attention has since been brought to other cases of Williams syndrome and prolonged conjugated hyperbilirubinaemia, one of whom was also initially thought to have Alagille syndrome (Metcalfe K; personal communication, 2005). There is some overlap between the clinical features of Alagille syndrome and Williams syndrome.³ Both syndromes are associated with poor feeding, short stature, and developmental delay. Cardiac abnormalities occur in both syndromes, and although classically Williams syndrome is associated with supravalvar aortic stenosis, pulmonary branch stenosis is also common.^3,5 It has been suggested that Williams syndrome should be looked for in all cases of supravalvar aortic stenosis or pulmonary branch stenosis.⁶ Although some minor dysmorphic features are shared by both syndromes, for example, depressed nasal bridge, the facies are described as being quite different. However, we highlight the difficulty in detecting subtle features in a baby of 6 weeks of age. In our patient the facial characteristics were much more apparent at the age of 10 months.

Michelle Announces a Golf Tournament to Benefit Williams Syndrome Association

The 4 of Us: golf tournament to benefit WS:

"Windham Country Club is pleased to announce it is hosting The Bill Gallagher Memorial Golf Classic to benefit Williams Syndrome Association on August 14th, 2009."

Williams Syndrome Drummer!

Williams Syndrome Drummer from Kimberly Shively on Vimeo.

William's syndrome: gene expression is related to parental origin and regional coordinate control

Journal of Human Genetics - William's syndrome: gene expression is related to parental origin and regional coordinate control

Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

Williams Syndrome Woman Hosts Awareness Day

Full Story here:

"A WOMAN with a rare genetic condition hosted an awareness day in Crewkerne on Saturday in a bid to tackle prejudice.

Debbie Jackson, aged 29, wanted to make the community aware that Williams syndrome is a disability, as opposed to a disease, to overcome prejudice. This can stem from people's reaction to her physical characteristics. These include walking and talking slower than most people."

Williams Syndrome Researcher Named to American Academy of Arts and Sciences

Johns Hopkins Gazette | April 27, 2009:

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

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

Running for Sophie

Ultra | Running for Sophie:

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

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

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

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

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

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

New Research on How Williams Syndrome Effects Quality of Peer Relationships

High Point University © 2009:

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

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

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

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

Daily Dispatch Online

Daily Dispatch Online:

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

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

New Book on Cognitive Development in Williams Syndrome to be Published

Johns Hopkins Gazette | April 13, 2009:

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

Williams Syndrome on Facebook

Causes on Facebook | Williams syndrome