Sunday, January 31, 2010

Attentional characteristics of infants and toddlers with Williams syndrome...

Attentional characteristics of infants and toddlers with Williams syndrome … -

"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

New dental surgery center will cater to special needs patients | | News

New dental surgery center will cater to special needs patients | | News:

"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

MnMs Perform at Benefit Concert - Anderson Township News at

MnMs Perform at Benefit Concert - Anderson Township News at

"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

Summary Article on Williams Syndrome

NEJM -- Williams-Beuren Syndrome

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

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."

Comprehension of metaphor and metonymy in children with Williams syndrome

Comprehension of metaphor and metonymy in children with Williams syndrome:

"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

Sudden cardiac death under anesthesia in pediatric patient with williams syndrome: A case report and review of literature Gupta P, Tobias JD, Goyal S, Miller MD, Melendez E, Noviski N, De Moor MM, Mehta V - Ann Card Anaesth:

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

Numerical abilities in Williams syndrome

Numerical abilities in Williams syndrome: Dissociating the analogue magnitude system and verbal retrieval - Journal of Clinical and Experimental Neuropsychology:

"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

Books on Williams Syndrome

WS Reference Page:

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"

Complex grammar in Williams syndrome - Clinical Linguistics & Phonetics

Complex grammar in Williams syndrome - Clinical Linguistics & Phonetics:

"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."

University of Wisconsin Williams Syndrome Lecture

Events, Williams Syndrome and Duplication of the Williams Syndrome Region: Cognition, Language, and Psychopathology, University of Wisconsin School of Medicine and Public Health:

"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

John D. Wiley Seminar Series with Carolyn B. Mervis, PhD, Professor, Department of Psychological and Brain Sciences, University of Louisville."

Monday, January 4, 2010

The iris in Williams syndrome.

The iris in Williams syndrome.:

"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."