A Mystery of Misinterpretation: Landau on Williams Syndrome

Arts and Sciences Magazine:

"After a decade of research, cognitive scientist Barbara Landau is mapping new territory in Williams syndrome—a rare condition that has long baffled scientists.

Suppose you had a winning personality, you loved music, you could ski, ride a bike, and were about to start college. But when faced with a simple test of matching four painted toy blocks, you fumbled around like a 4-year-old.

How can someone be proficient in so many ways, yet stymied by such a seemingly simple task?

It's a mystery that scientist Barbara Landau—the Dick and Lydia Todd Professor of Cognitive Science at the Zanvyl Krieger School of Arts and Sciences—has spent more than a decade trying to understand."

Tipped by: Stacia

Williams Syndrome eBook Downloads

williams syndrome eBook Downloads

I have not used this site before, but the few I tried seemed to work fine. There are a number of helpful articles here, all in pdf format for easy download.

Williams syndrome associated with complete atrioventricular septal defect

Williams syndrome associated with complete atrioventricular septal defect:

"To our knowledge, this is the first description in the literature of a long follow up period of Williams syndrome associated with complete atrioventricular septal defect. During 10 years’ follow up, the pressure gradient in the ascending aorta did not increase despite the narrowing of the ascending aorta seen on the aortogram."

A Study of Musical Talents and Persons With Williams Syndrome

A Study of Musical Talents and Persons With Williams Syndrome

Click on link above for a full pdf of the study results.

A brief narrative description of the journal article, document, or resource.

This monograph describes the Music & Minds program, which was designed through the collaboration of educational psychology professors specializing in gifted and talented education with faculty members in music, drama, and creative movement. The purpose of the research was to investigate the implications and impact of a strengths- and interests-based program on a special needs group of young adults with Williams syndrome (WS). This exploratory study employed multiple methodologies. Comparative case study and descriptive analysis were used to examine the experiences of the participants, and a mixed methods approach provided input into the effectiveness of using music (a self-reported area of interest) to achieve gains in a demonstrated deficit area (fractions). The Schoolwide Enrichment Model (SEM), a comprehensive, well-researched approach to enrichment, was selected as the conceptual framework for Music & Minds. Instruments used were either developed specifically for the study or adapted from SEM programs to provide group profiles and individual insights into interests and learning preferences. The participants, 8 female and 8 male young adults with WS, exhibited strong affinity for music and sound. There was a wide range of demonstrated musical ability, operationally defined as "the ability to understand and improvise in music, as well as the high level of skills, both potential skill areas and those present that can be developed in music." Findings from the 10-day residential program showed that when academic learning was incorporated into an enriched music-infused curriculum, achievement increased and enthusiasm for learning was enhanced. Most notable was an increased willingness on the part of the participants to investigate new areas and ways of learning. When the students were given opportunities to combine academic and arts experiences, they were more likely to explore and persist in trying to increase skills in deficit areas.

European Journal of Human Genetics - An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient

European Journal of Human Genetics - An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient:

"Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype–phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients."

Lions Club comes to the aid of local family with 13 year old Williams Syndrome Girl

Main Street Los Gatos: San Jose Mercury News:

"The Los Gatos Lions Club is raising money to help the family of a local woman who died this week from cancer.

Michelle Hargett Beebee, a graduate of Los Gatos High, was a single working mom, studying to be a teacher, when she was diagnosed in September with stage 4 pancreatic cancer. It was too late for any possible surgical success, and she died Monday at age 43 while in hospice care.

Beebee's parents, Carol and Joe Hargett, will become the primary caregivers for her children, sons Austin, 16, and Alex, 10, and a daughter, Aubrey, 13, who has Williams syndrome, a chromosomal disorder."

Williams Syndrome Music Savant Gloria Lenhoff performs Jewish song "Maoz Tzur- Rock of Ages"

Pioneering Shed Shop fundraiser dies at 79 : Express & Star

Express & Star:

"Pioneering Shed Shop fundraiser dies at 79.

A grandmother who ran a charity shop from the bottom of her garden, raising more than £65,000 over two decades, has died. Pauline Barnett was 79.

Mrs Barnett set up her shop in 1979 in a shed at her home in Needwood Grove, Stone Cross, West Bromwich. It was such a novelty at the time, it attracted bargain hunters from as far afield as Ireland.

The mother of three started selling secondhand clothes to raise money for the Williams Syndrome Foundation. Her son Michael was born with the condition, which causes mental and physical disabilities, and died aged 35."

Summary Statement: What is Williams Syndrome?

Toddler With Elfin Face, Cardiovascular Abnormalities, Hypercalcemia, and Developmental Delays

Here is one doctor's summary analysis of Williams Syndrome.

JAMES S. LEUNG, MD
Hospital for Sick Children, Toronto C. PION KAO, MD

Classically, Williams syndrome presents with transient infantile hypercalcemia that usually resolves by childhood, congenital cardiovascular defects, dysmorphic craniofacial features, a characteristic cognitive and personality profile, growth retardation, and developmental delays.1,2 This multisystem neurodevelopmental disorder was first described by Williams in 1961 and shortly afterward by Beuren (in 1962).3,4 Hence, it is also known as Williams-Beuren syndrome.

INCIDENCE AND ETIOLOGY

The incidence is about 1 in 7500 live births.5 Boys and girls are equally affected.5

Williams syndrome is caused by a hemizygous microdeletion of the ELN gene and contiguous genes on chromosome 7 at band 7q11.23.6,7 This microdeletion results from an unequal meiotic crossover event in one of the parents.8 Deletions of the ELN gene, which encodes for the protein elastin, are found in virtually all patients with Williams syndrome and are directly implicated in the pathogenesis of cardiovascular disease in these patients.6,9,10 However, because ELN is not expressed in significant levels in the brain, ELN deletions are not thought to be responsible for the visuospatial cognition problems, mental retardation, and facial dysmorphology associated with Williams syndrome.11 Instead, these features have been attributed to the combined effects of LIM-K, CYLN2, GTF2IRD1, and GTF2I gene deletions.9,12

Although most cases appear sporadically from de novo mutations, occasional cases of autosomal dominant transmission—occurring when adults with Williams syndrome have children—have been reported.13

CLINICAL MANIFESTATIONS

About 75% of patients have congenital cardiovascular defects, notably supravalvular aortic stenosis (at least 65% of all patients), followed by peripheral pulmonary stenosis (24%) and ventricular septal defects (12%).1 Renal, coronary, mesenteric, cerebral, and carotid artery stenosis may also occur but usually develop in older children and adults.2,10 Renal disease, in particular, needs to be evaluated early because it can lead to renal failure.

The craniofacial phenotype is characterized by mild microcephaly, upturned nostrils, a flat nasal bridge, full lips, wide mouth, long philtrum, bitemporal depressions, periorbital fullness, stellate irides, micrognathia, epicanthal folds, microdontia, malocclusion, enamel hypoplasia, dental aplasia, and fan-shaped orientation of the front teeth (elfin face).1,2

Children with Williams syndrome consistently exhibit a personality profile characterized by highly sociable and overly friendly behaviors accompanied by seemingly paradoxical anxieties, phobias, and poor daily living skills (“cocktail party” personality).14-17 These children have a happy affect—they cheer you up if you are having a bad day in clinic—and remarkable musical ability, which is one of their paradoxical strengths and gives parents hope. Affected children often have mild to moderate mental retardation, extremely severe visuospatial construction problems, and delayed vocabulary acquisition but have normal grammatical, facial recognition, and auditory rote memory skills.14,17 These children tend to be hyperactive (63% to 87% of children) and are 4 times more likely to have attention-deficit/hyperactivity disorder.1,18

Children with Williams syndrome typically exhibit global growth delays during the first few years of life, followed by a period of childhood catch-up growth; however, they ultimately have short stature in adulthood. Many have precocious puberty.1,19

COMPLICATIONS

Cardiovascular disease continues to be a chief concern as persons with Williams syndrome progress into adulthood.20 Many adults report worsening of preexisting supravalvular aortic stenosis.21 Hypertension may develop secondary to renal artery stenosis.20 Myocardial infarction, congestive heart failure, and stroke have also been reported with increased frequency.2 Affected persons are at increased risk for sudden death attributed mainly to coronary artery stenosis or severe biventricular outflow tract obstruction.22,23

Other associated anomalies and complications include gastroesophageal reflux, peptic ulcer disease, diverticulitis, cholelithiasis, bladder calculi, chronic urinary tract infections, premature gray hair, hypothyroidism, esotropia, bilateral inguinal hernias, joint laxity, joint contractures, scoliosis, kyphosis, lordosis, hypotonia, anxiety, and depression.2,18,20,21

DIAGNOSIS

The differential diagnosis of Williams syndrome includes supravalvular aortic stenosis, infantile hypercalcemia, autism, and Down syndrome.13,17,24,25 The unique clinical features of these conditions often allow a straightforward differentiation to be made. However, the diagnosis of Williams syndrome can be delayed because of a lack of significant clinical features during infancy.1

Suspected cases of Williams syndrome can be confirmed cytogenetically. The preferred diagnostic test is fluorescence in situ hybridization.26 In the patient described, results of this test showed a deletion of the ELN gene at 7q11.23.

TREATMENT

Treatment is largely symptomatic and supportive. A multidisciplinary approach is important; the treatment team should include a pediatrician, cardiologist, geneticist, ophthalmologist, neurologist, physiotherapist, psychologist, dentist, schoolteacher, and social worker. Support groups are also available for families (in Canada: the Canadian Association for Williams Syndrome [http://www.caws-can.org]; in the United States: The Williams Syndrome Association [http://www.williamssyndrome. org]).


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REFERENCES:
1. Morris CA, Demsey SA, Leonard CO, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318-326.

2. Lashkari A, Smith AK, Graham JM Jr. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila). 1999;38:189-208.

3. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-1318.

4. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation. 1962;26: 1235-1240.

5. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269-271.

6. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11-16.

7. Paterson SJ, Schultz RT. Neurodevelopmental and behavioral issues in Williams syndrome. Curr Psychiatry Rep. 2007;9:165-171.

8. Urbán Z, Helms C, Fekete G, et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59: 958-962.

9. Osborne L, Pober B. Genetics of childhood disorders, pt 27: genes and cognition in Williams syndrome. J Am Acad Child Adolesc Psychiatry. 2001;40:732-735.

10. Donnai D, Karmiloff-Smith A. Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet. 2000;97:164-171.

11. Ashkenas J. Williams syndrome starts making sense. Am J Hum Genet. 1996;59:756-761.

12. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8:1947-1954.

13. Metcalfe K, Simeonov E, Beckett W, et al. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clin Dysmorphol. 2005;14:61-65.

14. Mervis CB, Klein-Tasman BP. Williams syndrome: cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev. 2000;6:148-158.

15. Dykens E. Anxiety, fears and phobias in persons with Williams syndrome. Dev Neuropsychol. 2003;23:291-316.

16. Klein-Tasman BP, Mervis CB. Distinctive personal characteristics of 8-, 9- and 10-year-olds with Williams syndrome. Dev Neuropsychol. 2003;23:269-290.

17. Mervis CB, Becerra AM. Language and communicative development in Williams syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:3-15.

18. Leyfer OT, Woodruff-Borden J, Klein-Tasman BP, et al. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:615-622.

19. Partsch CJ, Dreyer G, Gosch A, et al. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr. 1999;134:82-89.

20. Howlin P, Udwin O. Outcome in adult life for people with Williams syndrome— results from a survey of 239 families. J Intellect Disabil Res. 2006; 50(pt 2):151-160.

21. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genet. 1992;44:720-729.

22. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996;129:926-931.

23. Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet. 2004;127A:234-237.

24. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-484.

25. Mervis CB, Robinson BF. Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Dev Neuropsychol. 2000; 17:111-126.

26. Cagle AP, Waguespack SG, Buckingham BA, et al. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics. 2004;114:1091-1095.

Clarity on Williams Syndrome Causes

What Causes Williams Syndrome?

There are 20,000-25,000 genes in the human genome and Williams syndrome is caused by a deletion of about 25 of them from a specific region on chromosome 7. It is likely that the absence of a few of these genes (not all) causes the problems associated with Williams syndrome. Amongst the genes that are usually missing from affected individuals are CLIP2, ELN, and GTF21.
CLIP2 - codes for a protein called CAP-GLY domain containing linker protein 2; it is believed to play a role in the structure and function of nerve cells.
ELN - codes for a protein called elastin which is a major component of elastin fibres that provide strength and flexibility to connective tissue. Researchers have discovered that absence of ELN is associated with connective tissue problems and cardiovascular abnormalities.
GTF1 - codes for two proteins called BAP-135 and TFII-I. BAP-135 has a role in the immune system and contributes to the activation of B cells in response to foreign invaders. TFII-I is a transcription factor that is active in the brain and other parts of the body. Some scientists think that it is involved in the regulation of calcium into cells. It has also been postulated that loss of the GTF1 gene is associated with the learning disabilities observed in Williams syndrome.
At the time of writing (December 2009) the relationship between many of the deleted genes and Williams syndrome symptoms is unknown.

Covert processing of facial expressions by people with Williams syndrome

Covert processing of facial expressions by people with Williams syndrome:

"Although individuals with Williams Syndrome (WS) are empathic and sociable and perform relatively well on face recognition tasks, they perform poorly on tasks of facial expression recognition. The current study sought to investigate this seeming inconsistency. Participants were tested on a Garner-type matching paradigm in which identities and expressions were manipulated simultaneously as the relevant or irrelevant dimensions. Performance of people with WS on the expression-matching task was poor and relied primarily on facilitation afforded by congruent identities. Performance on the identity matching task came close to the level of performance of matched controls and was significantly facilitated by congruent expressions. We discuss potential accounts for the discrepant processing of expressions in the task-relevant (overt) and task-irrelevant (covert) conditions, expanding on the inherently semantic-conceptual nature of overt expression matching and its dependence on general cognitive level."

Yale Researchers Awarded Grant to Develop Treatment of Williams Syndrome

Yale Researchers Awarded Grant to Develop Treatment of Williams Syndrome:

"The Kiev Foundation grant will support the research of Frank Giordano, M.D., associate professor of internal medicine (cardiovascular); William C. Sessa, professor and vice chair of the Department of Pharmacology and director of the Vascular Biology and Therapeutics Program; and George Tellides, M.D., professor of surgery (cardiothoracic), who will study the elastin gene in order to design new treatments for Williams Syndrome. The most severe problems of WS are caused by the loss of one copy of elastin, a gene on chromosome 7 that plays a key role in the maintenance of artery walls.

Giordano and Sessa will investigate whether the deletion of one copy of elastin causes changes in gene expression that lead to WS. Giordano’s lab will attempt to engineer transcription factors as a treatment to increase the expression of the remaining elastin gene. Sessa’s lab will concentrate on identifying microRNAs that can enhance that expression."

Early screenings can help children later in life

Updated: Early screenings can help children later in life | tallahassee.com | Tallahassee Democrat:

"Jeremy Richard was born with Williams syndrome, a rare genetic disorder of the heart that doctors said can generally lead to problems with development.

His mother, Allison Tant, knew physical and cognitive delays were most likely in Jeremy’s future, but it was the screening process when he was just 5-months-old that set her on the right path of therapies and interventions that now allow the 11-year-old to play the piano, guitar and be a successful fourth-grader who is able to function with his learning disabilities."

Retinotopically defined primary visual cortex in Williams syndrome

Retinotopically defined primary visual cortex in Williams syndrome -- Olsen et al. 132 (3): 635 -- Brain:

"Williams syndrome, caused by a hemizygous microdeletion on chromosome 7q11.23, is characterized by severe impairment in visuospatial construction. To examine potential contributions of early visual processing to this cognitive problem, we functionally mapped the size and neuroanatomical variability of primary visual cortex (V1) in high-functioning adults with Williams syndrome and age- and IQ-matched control participants from the general population by using fMRI-based retinotopic mapping and cortical surface models generated from high-resolution structural MRI. Visual stimulation, consisting of rotating hemicircles and expanding rings, was used to retinotopically define early visual processing areas. V1 boundaries based on computed phase and field sign maps were used to calculate the functional area of V1. Neuroanatomical variability was assessed by computing overlap maps of V1 location for each group on standardized cortical surfaces, and non-parametric permutation test methods were used for statistical inference. V1 did not differ in size between groups, although its anatomical boundaries were more variable in the group with Williams syndrome. V1 overlap maps showed that the average centres of gravity for the two groups were similarly located near the fundus of the calcarine fissure, ~25 mm away from the most posterior aspect of the occipital lobe. In summary, our functional definition of V1 size and location indicates that recruitment of primary visual cortex is grossly normal in Williams syndrome, consistent with the notion that neural abnormalities underlying visuospatial construction arise at later stages in the visual processing hierarchy."

Williams Syndrome and The Great Vitamin D Panic

Dr. Joe's E-News - A Diabetes Newsletter: The Great Vitamin D Panic:

"He also details the role the Williams syndrome played in the Great Vitamin D Panic. Williams syndrome is a genetic malformation that causes, among other things, infantile hypersensitivity to Vitamin D, elevated 1,25 levels even without supplemental Vitamin D, and often hypercalcemia in response to supplemental Vitamin D. (In fact, it was by studying the Williams Syndrome that I became more convinced of the relationship of Vitamin D to autism. Kids with the Williams syndrome, the only human disease with greatly elevated serum 1,25 levels around birth, grow up to have an adult personality that is the phenotypic opposite of autism, thus they are an experiment of nature.)"

The Specials

Home | The Specials

The BBC is running a new reality TV series that follows the lives of 5 housemates... each with a different disability. It won't take long to figure out who has Williams Syndrome.

Canadian Member of Parliament calls for Williams Syndrome awareness week | NDP

Siksay calls for Williams Syndrome awareness week | NDP:

"Mon 05 Oct 2009

OTTAWA – Today, Bill Siksay (Burnaby Douglas) introduced a private member’s bill which would designate the week of August 1 to 7 every year as “Williams Syndrome Awareness Week.”

Williams Syndrome is a rare genetic disorder that is caused by an abnormality in chromosomes. It can affect brain development and can cause various physical problems such as cardiovascular disease. Individuals with this disorder become highly verbal and social.

“Designating this week would raise awareness of Williams Syndrome, and hopefully advance education and research into the condition,” said Siksay. “I think a heightened awareness of this condition will facilitate the integration of those with Williams Syndrome into society.”

'By establishing this Awareness Week for Williams Syndrome we are creating world knowledge for many parents, professionals and the public of a syndrome that often goes undiagnosed or misdiagnosed,” said Diane Reid, Chair of the Canadian Association for Williams Syndrome. “Our kids throw educational theories out the window since their tested IQ levels are a series of peaks and valleys that aren’t supposed to exist.”

“This bill will go a long way towards ensuring individuals with Williams Syndrome will be included in their communities so they may make their unique contributions to Canadian society,” concluded Siksay."

The Herald-News - News Story - Community blesses toddler's heart

The Herald-News - News Story - Community blesses toddler's heart:

"It's not every day that a 2-year-old boy goes in for open-heart surgery. But it's even less common to have his grandmother's school co-workers rally around him offering prayers and support and even donning t-shirts saying, 'Bless Jake's Heart.'

Jacob White, the son of Rhea County natives Jennifer and David White, was diagnosed with Williams Syndrome six months after he was born. The condition caused a heart valve complication that necessitated his heart surgery.

'It's a fairly routine surgery to the doctors, but it's risky for us,' said Jacob's grandmother Beverly Revis.

Jacob's heart surgery is scheduled for Wednesday at the University of Michigan in Ann Arbor.
He will travel from his Nashville home with nearly a dozen family members, but he'll have a vast support system here in Rhea County too.

His mother came up with the idea of designing t-shirts for friends and family to wear on the day of Jacob's surgery.

'The t-shirt was a way to build support and raise money for the trip to Michigan,' said Jennifer."

Zebrafish and Williams Syndrome?

Astronomer puzzles over universe - News - ReviewJournal.com:

"Take Carl Reiber, a professor and the associate dean of the College of Sciences.

Reiber is about to launch a research project studying zebrafish in such a way that it might, he hopes, lead to a treatment for children with a rare chromosomal disorder called Williams syndrome."

MonroeNews.com - The Monroe Evening News, Monroe, MI

MonroeNews.com - The Monroe Evening News, Monroe, MI:

"Now a 17-year-old 10th-grader who enjoys music, hanging out with friends and has ambitions to attend the University of Notre Dame, Kurtis is an international speaker who uses his life story to send a message that people like him can succeed if given the opportunity.

'My disability is a part that makes me be me,' he said. 'We don’t need prejudice here in Michigan.'

Kurtis has Williams Syndrome, a rare genetic disorder that causes delayed speech, development delays and learning disorders. It is incurable and those who have it are largely misunderstood as not having the ability to retain information or learn, Mrs. Cunningham said.

During a guest appearance at the Monroe County Intermediate School District, Kurtis and his mother, who live in Holland on the west side of the state, used a computer during their presentation to help educators realize that those with disabilities sometimes need electronic assistance to excel and to be heard."

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.

High School Student Wins Science Fair with Williams Syndrome Project

Montgomery News:

"This year’s project, “The Effect of Williams Syndrome on the Symmetry of the Planum Temporal in Musicians” won a second-place award in its category in this year’s Delaware Valley Science Fair, followed up with a first place in the May 17-19 Pennsylvania Junior Academy of Science competition at Penn State University.

The brain’s planum temporale controls language, auditory functions and pitch differentiation. Williams syndrome, which Keppley has been studying for the past few years, is a rare genetic condition that causes medical and developmental problems. People with the syndrome are also more likely to have musical skills."

Rare insights from pupils' film in New Zealand

Rare insights from pupils' film | Stuff.co.nz:

"Michael reveals what it means to be a young man with the rare, genetic condition of Williams syndrome which causes medical and developmental problems. Because Michael lives in their small community, the Year 7 and and Year 8 film-makers knew him but not really as a person until they spent time together, Ms Anderson said. They photographed him at a garage where he likes to fix cars and bicycles, and video-taped him playing his electric guitar.

Wairau Valley School principal David Nott said the project was relevant to the whole community. Students were able to 'closely consider how life is for someone with the challenges of a disability. Our special guests were fantastic and our students are richer because of the experience.'"

Trike is spot on for Stockton teenager

Gazette Live - News - Local News - Trike is spot on for Stockton teenager: "GETTING around is now a whole lot easier for 15-year-old James Pickering.

The Billingham teenager has a rare developmental disorder called Williams Syndrome and can walk only very short distances.

But thanks to a group of bingo-goers and national charity Whizz-Kidz, James is now riding high on a specially-adapted tricycle.

“I’m really pleased with it,” said James. “I’d like to say thank you.”"

Running for Brittany

Running for Brittany | coshoctontribune.com | Coshocton Tribune:

"COSHOCTON — Sprinting past the finish line, the number 25 proved to be a lucky one for Steven Wachtel.

That’s the number the 2007 River View High School graduate wore on his white T-shirt as he competed in the fourth annual Brittany’s 5K Run/Walk Benefit. His winning time was 18 minutes and 13 seconds.

“It feels good,” Wachtel said while still trying to catch his breath. “Whenever I get a chance to run I take it. It feels good to compete, but more than that running locally is about coming back to see friends and support a good cause.”

The yearly spring event was held Saturday at Lake Park to benefit the Williams Syndrome Association.

Williams Syndrome is a rare congenital disorder on chromosome seven that causes medical and developmental problems.

The event is named after 18-year-old Brittany Rogers who has the disorder. She is the daughter of Coshocton County Sheriff Tim Rogers and Nanci Rogers. Nanci serves as the president of the Williams Syndrome Board of Trustees.

“It’s a small association that is underfunded,” Nanci said. “Some of our philanthropic efforts include fundraisers to increase awareness, fund camps, conventions, research and education.”"

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

Retinotopically defined primary visual cortex in Williams syndrome

Retinotopically defined primary visual cortex in Williams syndrome:

"Williams syndrome, caused by a hemizygous microdeletion on chromosome 7q11.23, is characterized by severe impairment in visuospatial construction. To examine potential contributions of early visual processing to this cognitive problem, we functionally mapped the size and neuroanatomical variability of primary visual cortex (V1) in high-functioning adults with Williams syndrome and age- and IQ-matched control participants from the general population by using fMRI-based retinotopic mapping and cortical surface models generated from high-resolution structural MRI...

In summary, our functional definition of V1 size and location indicates that recruitment of primary visual cortex is grossly normal in Williams syndrome, consistent with the notion that neural abnormalities underlying visuospatial construction arise at later stages in the visual processing hierarchy."

Language Use in Williams Syndrome

The Implications of Williams Syndrome « Language Fix:

"Comparisons of SLI and Williams Syndrome hinge on the notion that SLI is inherited. While the research does suggest that at least a predispotion toward SLI is inherited, the complexity of its causes makes any comparisons like that of apples and oranges. The exact cause of Williams Syndrome is known: it is the result of missing genetic material on chromosome seven. SLI is likely the result of a stew of ingredients, with varied recipes, and varied results. Individuals with Williams Syndrome are gregarious. They enjoy talking. Is it any wonder that they may become relatively proficient at something they enjoy? As with other human behaviors and skills, language acquisition will likely never be reduced to one cause. Similarly, the fact that these individuals are poor puzzle solvers is more likely related to visual-spacial deficits than an impairment in some “puzzle solving” gene.

Anette Karmiloff-Smith has done a lot of great work on Williams Syndrome, much with a focus on accurately describing its characteristic language skills and deficits. Many of her publications are available for download on her personal web site. Language log has published an interesting post on the science and state of language research in Williams Syndrome..."

Black River student travels to Middle East - Holland, MI - The Holland Sentinel

Black River student travels to Middle East - Holland, MI - The Holland Sentinel: "Holland, MI —

Kurtis Cunningham, a ninth-grader with a genetic disability, may seem like an unlikely candidate to serve as an ambassador to the Middle East.


But that’s almost exactly what he did last month as he was invited to the United Arab Emirates to tell conference attendees about how he’s included into regular classes at Black River Public School. The conference on education is by a former Black River School consultant now working for the UAE.


Cunningham, 18, has Williams Syndrome, a genetic condition that gives him a distinctive appearance and various medical problems. Although the condition comes with a few benefits — including very sensitive hearing — it also makes math very difficult for him and keeps him behind his peers in other school subjects.


Cunningham was invited to the United Arab Emirates conference and met with UAE officials such as Interior Minister Lt. General H.H. Sheikh Saif bin Zayed Al Nahyan."

Strange Science?

I am not so sure Dr. Grody has done all his homework, nor do I really know what this show is about!

Video Recaps | Full Episodes | Webisodes

New Help for Williams Syndrome Diagnosis?

PharmaLive: Ontario Biotech Company Wins Award for Innovation and Receives Investment to Grow Business:

"Cytognomix is developing and manufacturing DNA probes that can pinpoint genetic abnormalities more precisely than current methods and could, in the future, result in more effective disease diagnostics and more tailored treatment pathways for patients.

“These probes are the genetic equivalent of finding a needle in the haystack,” commented Glen Smeltzer, President of the Stiller Centre. “We are extremely proud to present the inaugural Stiller Centre Prize to such an innovative local business.”

-----

“Subtle differences in chromosome structure are very common in genetic disorders,” commented Dr. Rogan, who was named a Canada Research Chair this month. “The probes will enable quicker and more precise identification of these diseases and other genetic abnormalities, and will aid physicians in choosing relevant and suitable treatments for the patient.

------

One example of how these probes can be invaluable is in cases of Williams syndrome which causes the narrowing of the aorta, one of the heart’s major arteries. This syndrome can sometimes cause a disorder in some children that results in delayed mental development. Probes have already been developed to detect these abnormalities, which leads to the swift enrollment of the child in remedial programs.

“This is the real clout of genomics - to marshall the power of predictive medicine,” continued Rogan."

Support for non-disabled siblings

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

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

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

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

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

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

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

Williams Syndrome Girl Receives Elastin Gene?

Benton Courier - Area vets help girl:

My understanding is that this was not medically possible?

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

Brendan Lemieux - A Williams Syndrome Drummer

Brendan Lemieux: Rare Talent - The Source:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Friends, fun in Down Syndrome Association Soccer League

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

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

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

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

And he is."

NYT: Profile of a young woman with Williams Syndrome

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

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

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

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

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

Daniel Levitin Discusses Some Preliminary Research on Williams Syndrome

Madison musician debuts on MTV show

Madison musician debuts on MTV show- The New Haven Register - Serving Greater New Haven, CT:

"A Daniel Hand High School graduate who attended public schools in Fairfield and Madison, LeMieux was not diagnosed with Williams syndrome until age 12. He said he was bullied by some who didn’t understand him.

The camaraderie among castmates and the celebrities is part of what makes “How’s Your News?” special, LeMieux-Pocock said, even though some viewers might not know what to make of the program at first.

“I certainly watched Brendan navigate the public schools where inclusion absolutely didn’t always translate to social inclusion,” she said. “Here, he can be himself, and people either get it or they don’t.”

Now, people with disabilities frequently contact LeMieux online, and his work with fellow reporters on “How’s Your News?” has helped solidify his goal of helping people with disabilities through music.

“I’ve found people that I can really relate to and I see them as a family now,” he said. “I don’t feel embarrassed to tell people I have a disability.”

The show also has made him less self-conscious about his condition, he said.

“I’m reserved but it’s helped me also to break out of my shell,” he said of the show. “Once (viewers) get to know me they will see I am just a person who maybe has a health problem.”

“How’s Your News?” airs at 10:30 p.m. Sundays on MTV.

James Moore: How's Your News?

James Moore: How's Your News?:

"That question is now the title of an MTV program that turns loose people like Jeremy Vest to ask questions and enable those of us without the privilege of their perspective to see who and what they perceive and know. Trey Parker and Matt Stone of South Park fame saw an edited version of Bradford's work with Jeremy and his friends and they decided to become executive producers of How's Your News? on MTV. In the show, my friend Jeremy, the excitable boy, and his friends, travel the country to red carpet events and political conventions and anything else that grabs their attention so they can meet and interview the bold-faced names of our culture. And they show us what it is like to be who they are."

Abnormal Cortical Complexity and Thickness Profiles Mapped in Williams Syndrome

pdf Link to Whole Paper (with colour illustrations)

We identified and mapped an anatomically localized failure of cortical maturation in Williams syndrome (WS), a genetic condition associated with deletion of 20 contiguous genes on chromosome 7. Detailed three-dimensional (3D) maps of cortical thickness, based on magnetic resonance imaging (MRI) scans of 164 brain hemispheres, identified a delimited zone of right hemisphere perisylvian cortex that was thicker in WS than in matched controls, despite pervasive gray and white matter deficits and reduced total cerebral volumes.

Long Island Fundraiser Expected to Exceed all Expectations

Long Island News - Long Island Fundraiser Expected to Exceed all Expectations | Long Island Press Releases:

"Over 600 guests expected at Long Island Gala to support families affected by Williams Syndrome; Volunteers beat the odds and celebrate an outpouring of support for the Williams Syndrome Association

(Great Neck, N.Y.) What was expected to be a small-scale event - dinner and dancing for 200 people, has turned into a sold out gala for more than 640 people! The attendees, many of whom had never heard of Williams syndrome, will gather to support the programs of the Williams Syndrome Association (WSA) at Leonard’s of Great Neck on February 21st. Guests will be invited to participate in several auctions and fundraising opportunities prior to dinner and live entertainment provided in part by adults with Williams syndrome. The evening’s theme is “Celebrate the Children in our Hearts.”"

Two Genes Influence Social Behavior, Visual-spatial Performance In People With Williams Syndrome

Two Genes Influence Social Behavior, Visual-spatial Performance In People With Williams Syndrome

Two genes in particular, GTF2IRD1 and GTF2I, caught Korenberg's eye. Both encode transcription factors that help regulate the activity of other genes. Although their exact function is unknown, the genes are active in many body tissues and appear to be particularly important in regulating brain and skeletal muscle genes.

In earlier studies, Korenberg and her collaborators linked both GTF2I and GTF2IRD1 to deficits in visual-spatial processing, a hallmark of Williams Syndrome. The researchers are now dissecting the genes' roles even more. "Further parsing the effects of GTF2IRD1 versus GTF2I on spatial construction and social behavior was previously hampered by the small number of cases with fewer than the usual gene deletions and limited cognitive data," explains Korenberg.

To distinguish the roles of the two genes, postdoctoral researcher and study first author Li Dai, Ph.D., combed the genomes of 17 Williams Syndrome patients to identify those who had lost only one GTF2I gene. This allowed identification of a girl who had retained GTF2I but didn't fit the classical description of the disorder. "Finding this girl was very exciting," Korenberg said. "Her case had so much power to explain the role of these genes."

When the Salk researchers tested the girl to measure her IQ and social behavior, they found her scores in vocabulary, information processing, comprehension, arithmetic, and the ability to finish partially completed drawings to be substantially closer to normal than most patients with Williams syndrome.

Her full-spectrum IQ, a measure of both functional and performance intelligence, was 78, a full 18 points higher than average for someone with the disorder. Yet in two areas, the ability to assemble objects or work through a maze, the girl scored lower than average for people with the syndrome and substantially lower than normal.

These tests also confirmed that her social behavior is different than expected. While she is charming and engaging, she does not run up to people and does not maintain as much eye contact or physical proximity to others when conversing.

"Because she has the typical facial features and severe deficits in visual spatial skills, but lacks the overly social behavior, it suggested to us that GTF2IRD1 contributes to visual-spatial performance while GTF2I plays a role in social behavior," says Korenberg.

Although this work presents a major step forward in linking GTF2I to social behavior, it does not mean they are the only genes involved, Korenberg notes. Endowed with the power to control the activity of other genes, GTF2I might regulate signal pathways determining the structure and function of the brain or the production of neurohormones such as vasopressin and oxytoxin. Oxytoxin plays a key role in the desire to seek social interactions and trusting others, which might explain why for children with Williams syndrome, the world has no strangers, only friends.

More on Brain Processing in People with Williams Syndrome

Why Bangor is smiles ahead - WalesOnline:

"The research, which is published this month in the Journal of Neuroscience, focused on individuals with Williams syndrome, a rare genetic condition. Along with other traits, people with Williams syndrome have a heightened response to happy or smiling faces and are less likely to react to aggressive or angry faces.

People with this condition can be friendly and gregarious – so friendly that they can place themselves in danger. Such individuals generally require 24- hour care or supervision.

Through the research, the team was able to pinpoint the differences in brain processing in people with Williams syndrome compared to a range of other individuals to learn more about this unusual condition.

“We want to understand the brain mechanisms involved in reacting to emotional expressions so that we can understand what happens within these individuals and ultimately improve the help and care they receive,” Dr Mills said. “People with Williams syndrome are usually aware of their condition but are often unable to inhibit their impulses to engage with people around them. It may be their response to seeing a happy face is far more intense than our own.”

The part of the brain most active when reacting to emotion- al stimuli is the amygdala, a primitive almond-shaped brain structure. This small area deep within the brain interacts with other parts of the brain to regulate arousal, attention, and memory to emotional stimuli.

The researchers established that the changed response in people with Williams syndrome was not related to IQ."

"How's Your News," New MTV Show, First Review

Ellen Gray: MTV debuts a different kind of 'News' | Philadelphia Daily News | 02/05/2009

But it's Vest, a 20-year-old with Williams syndrome whose mother says he's "always been what we like to call 'severely unusual,' " who's the show's star.

Williams, a genetic condition associated with, among other things, outgoing personalities and good verbal skills, may have given Vest a leg up in a frothy world where one minute you're palling around with John Stamos and the next you're doing red-carpet interviews at the Grammys.

Sean Tuck Goes to Clemson University

PRO-Parents_Reach_Out_Newsletter_Winter_2008_-_2009.pdf (application/pdf Object)

Sean, 21 of Greenville, has Williams syndrome — a rare genetic condition, estimated to occur in 1 of
every 7,500 births, which causes medical and developmental problems. But Sean gives very little indication
of someone who is labeled “intellectually disabled.”
Bright, funny, and friendly, Sean is one of three area charter students in Clemson’s new LIFE program.
Sharon Sanders, program manager, said the program is a college school-to-job transition for these
youths, just like all high school graduates...
Clemson University students are already lining up to provide support for the program. Education majors
will assist with delivering lessons, developing curriculum, and evaluating progress. Other undergraduates
will serve as LIFE Mentors and will accompany the Clemson LIFE students to sporting events and theater
presentations, work out with them at the gym, go to movies, and share meals on or off campus. Even the
student government is currently considering options like which committees the students could serve on.
“This is a very exciting opportunity for us to help these students out and make a difference in their future
while also contributing to a more inclusive campus environment,” said one Clemson student, “and to be
part of something bigger than ourselves.”

Sociability Traced to Particular Region of Brain by Stanford Scientists - MarketWatch

Sociability Traced to Particular Region of Brain by Stanford Scientists - MarketWatch:

"STANFORD, Calif., Jan 27, 2009 (BUSINESS WIRE) -- People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers at the Stanford University School of Medicine showed that parts of a particular brain region known as the amygdala react more powerfully in Williams syndrome patients than in developmentally normal subjects--or in subjects with delays in development not caused by Williams syndrome--when exposed to facial expressions conveying positive emotions.
The study will be published Jan. 28 in the Journal of Neuroscience. Biopsychologist Brian Haas, PhD, a postdoctoral researcher at Stanford, shares first authorship of the study, with Debra Mills, PhD, of Bangor University in Gwynned, Wales. Haas conducts research in the laboratory of Allan Reiss, MD, the Howard C. Robbins Professor of Psychiatry and Behavioral Sciences at Stanford, who is the paper's senior author. The work is part of an ongoing multicenter collaboration."

Telluride Inside... and Out:MacKenzie Mansour skis with TASP

Telluride Inside... and Out:MacKenzie Mansour skis with TASP:

"Fourteen year old MacKenzie Mansour, from Lone Oak, TX, has been skiing with Telluride Adaptive Sports Program this past week. MacKenzie has a rare genetic condition known as Williams Syndrome. That has not stopped her from enjoying our mountain. I had the privilege of skiing with MacKenzie for three days. The progress was inspiring to observe. The attached video shows the increase in confidence between her first and third runs in Ute Park her second day out. Hurray for you, MacKenzie."

Local woman has something to smile about

telegraphjournal.com - Local woman has something to smile about - Breaking News, New Brunswick, Canada

Michelle Arsenault, is a Saint John woman with Williams Syndrome.

Her debilitating condition caused her to have severe dental issues throughout her life, with teeth so misaligned they were almost in three rows. The condition of her teeth made it difficult to chew and swallow food.

Arsenault, who lives with her single mother Darlene Gallant and sister Jocelyn, works at Key Industries. Her family was unable to afford the dental work she required to fix her teeth.

That is, until the dental committee of the Saint John Kiwanis Club stepped in to pay for the procedures.

After four years, Arsenault has a Colgate smile.

Atypical right diaphragmatic hernia (hernia of Morgagni), spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report - 7thSpace Interactive

Atypical right diaphragmatic hernia (hernia of Morgagni), spigelian hernia and epigastric hernia in a patient with Williams syndrome: a case report - 7thSpace Interactive:

"These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen.

Diaphragmatic hernia may be the cause of chest pain in these patients. A computed tomography scan helps in early diagnosis, and laparoscopic repair helps in prevention of further complications, and leads to quick recovery especially in patients with learning disabilities.

In the presence of significant comorbidities, a less invasive operative procedure with quick recovery becomes advisable."