Sunday, February 21, 2010

Idiom comprehension in French-speaking children and adolescents with Williams’ syndrome

Idiom comprehension in French-speaking children and adolescents with Williams’ syndrome « COMD News:

"The main results can be summarized as follows: (1) people with WS have difficulties to understand idioms; (2) WS group seems to perform partly as typically developing children for the acquisition of metapragmatic knowledge of linguistic convention: there is a progressive increase in metapragmatic knowledge of linguistic convention as age increased. Our results indicate a delay of acquisition in idiom comprehension in Williams’ syndrome."

Small and Large Number Processing in Infants and Toddlers with Williams Syndrome

Small and Large Number Processing in Infants and Toddlers with Williams Syndrome:

"While infants with WS were able to discriminate between 2 and 3 elements when total area was confounded with numerosity, the same infants did not discriminate between 8 and 16 elements, when number was not confounded with continuous variables. These findings suggest that a system for tracking the features of small numbers of object (object-file representation) may be functional in WS, while large number discrimination is impaired from an early age onwards. Finally, we argue that individual differences in large number processing in infancy are more likely than small number processing to be predictive of later development of numerical cognition."

Spirit of Special Olympics prevails with Williams Syndrome Athlete - Spirit of Special Olympics prevails:

"As athletes in Vancouver push themselves in the quest for gold medals, more than 100 athletes participated in the first-annual Special Olympics indoor track invitational on Saturday, many for the joy of competition.

One of the contestants, Nicolas Licon, has a genetic condition called Williams Syndrome. His mother, Wendy, proudly watched him and others participate in track and field events upon an indoor track installed inside the convention center in Albuquerque."

Friday, February 19, 2010

Tastes like yellow: First twenty four

Tastes like yellow: First twenty four: "

I brought Ben to Children's Memorial Hospital in Chicago on Wednesday the 17th for what we thought was a 'baseline' MRI and CT scan of his heart. As a child with Williams Syndrome and having had heart surgery as an infant, we have been constantly monitoring his heart and artery health, so we expected this to be one more insight into their condition.

Insight we got, and it has led to a several day wait in the hospital while surgery is scheduled to open a nearly blocked coronary artery."

Thursday, February 18, 2010

Long-Term Outcomes of Patients With Cardiovascular Abnormalities and Williams Syndrome

Long-Term Outcomes of Patients With Cardiovascular Abnormalities and Williams Syndrome:

"In conclusion, CVAs are common in patients with WS, but supravalvar aortic stenosis and peripheral pulmonary stenosis occurred less frequently in this large cohort than previously reported. In patients with WS and CVAs, interventions are common and usually occur by 5 years of age. Most patients with WS do not require intervention during long-term follow-up, and the overall mortality has been low."

Death following tonsillectomy in a child with Williams syndrome

Death following tonsillectomy in a child with Williams syndrome:

"We report a case of sudden death at the time of tonsillectomy/adenoidectomy and bilateral tympanostomy tube placement in a child with Williams syndrome. All children with Williams syndrome should have a thorough cardiac evaluation before undergoing general anesthesia for any otolaryngologic procedure."

Severe Eating Disorder in a 28-Year-Old Man With William's Syndrome -- Young et al. 166 (1): 25 -- Am J Psychiatry

Severe Eating Disorder in a 28-Year-Old Man With William's Syndrome -- Young et al. 166 (1): 25 -- Am J Psychiatry:

"'Mr. T' was a 28-year-old man with William’s syndrome who was admitted to a university-based inpatient psychiatric unit for evaluation and treatment of severe malnutrition and food refusal. At 5 feet 5 inches tall, his presentation weight of 64.6 lb rendered a body mass index of 10.7 kg/m2. Elfin faced, grinning, genial, with limited intellectual functioning, and in the company of his parents, he arrived on the unit carrying a book on drag racing and a magazine for drummers. Although never in his life heavier than 78 lb, as a result of increasingly restricted patterns of eating, Mr. T lost 10 lb during the 2 months before admission. His parents and primary care physician were deeply concerned and requested inpatient evaluation, medical stabilization, and treatment of Mr. T’s presumed eating disorder.

Because Mr. T’s I.Q. had been previously assessed at about 80, although his parents provided much of the history, Mr. T offered what information and perspectives he could regarding his symptoms, behaviors, and his understanding of their causes. Mr. T’s stated chief complaint was 'I get backed up when I eat, so I’m losing weight.' He was not concerned about his current weight but realized that his parents were worried about his weight and health. For their part, Mr. T’s parents worried about not having had formal training in parenting and managing the dietary habits of an adult with a possible eating disorder. They wanted instruction in how to constructively monitor and encourage healthy eating without being overbearing."

Tuesday, February 16, 2010

Pulmonary Artery Diverticulum: An Angiographic Mar... [Pediatr Cardiol. 2010] - PubMed result

Pulmonary Artery Diverticulum: An Angiographic Mar... [Pediatr Cardiol. 2010] - PubMed result:

"Pulmonary artery diverticulum involving the main pulmonary artery was documented in all patients with Williams syndrome, while none of the patients in the other group had it. It originated at the bifurcation of the pulmonary artery in all. In conclusion, the angiographic appearance of a diverticulum as an extension of the main pulmonary artery is a consistent finding in patients with Williams syndrome. Compared to the classically described findings of supravalvar aortic stenosis or PPS, pulmonary artery diverticulum can be considered as a pathognomonic feature of Williams syndrome."

Learning to eat with Williams Syndrome

Learning to eat: Helen DeVos Children's Hospital helps kids through behavior modification | -

"Julie Busen's daughter Grace, 7, completed the program in the fall. She was used to receiving 99 percent of her nutrition through a tube.

Born premature and diagnosed with Williams Syndrome, a genetic disorder that causes development delays, at age 2, Grace started using the tube at 18 months old because she was not growing enough."

Tuesday, February 9, 2010

Charity fashion show benfitting Williams Syndrome students is massive success

Charity fashion show is massive success - News Guardian:

"A CHARITY fashion show proved so popular that two events were held on the same night so more people could enjoy it.

Organisers of the event at The Grand Hotel, in Tynemouth, were left amazed at the response to their show, selling out the 120 tickets within hours.

And a second show was organised – held an hour later – and helped raise a total of £3,025.50 on the night, with money still coming in.

The show was organised by Decote Dance and So&So Hairdressing, as they looked to raise money for the North East Schools Outreach Program, which helps youngsters diagnosed with Williams Syndrome and other learning difficulties."

Video of SVAS Corrective Surgery

This is rather graphic and not recommended for the queasy.

Friday, February 5, 2010

Ellsworth Woman Camps on Roof for Williams Syndrome Boy

Ellsworth Woman Camps on Roof for Easter Seals - WABI TV5:

"Easter Seals helps kids like Scott Carignan, who came to wish Tina well with with his brother, Heath, and dad, Robert.

Scott has Williams syndrome, a genetic condition that leads to developmental issues. His dad says thanks to early intervention therapy through the Easter Seals, at two-and-a-half, he's already a success story.

'At first, he wasn't crawling, couldn't sit up or even spin in a circle on his belly. And after about six months of physical therapy he was moving and climbing stairs and jumping,' says Robert Carignan.

These days, Scott's moving quite well."

A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome

SpringerLink - Journal Article

"Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. Methods: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS."

Tuesday, February 2, 2010

Some Observations on IQ Measurements in Williams Syndrome Patients

Intelligent Insights on Intelligence Theories and Tests (aka IQ's Corner): Intellectual heterogeneity of MR/ID as evidence against AAIDD "stuck on g" green manual: Even in cleary genetic-based syndromes (Williams Syndrome):

"I would argue, as have others, that this WS syndrome-specific cognitive stereotype is largely due to the fact that historically MR/ID researchers only had the V/P organized Wechsler batteries as their primary IQ battery...and that the 'profile' may be due to this research being constrained by batteries that did not validly measure a greater breadth of cognitive functioning. This is not a criticism of the past research, as researchers had limited theories of intelligence and measures of constructs from which to work. However, now that CHC theory has emerged as the consensus psychometric model of cognitive abilities and, more importantly, there are a significant number of well-standardized and psychometrically sound IQ batteries of multiple cognitive abilities, I'm not surprised that a syndrome with a strong genetic core, which typically results in more within-group similarity, when measured by more contemporary CHC-based IQ batteries display considerable variability/heterogeneity in patterns of cognitive abilities.

Below is the abstract for 2005 study that reported that WS individuals do NOT display the classic and historical syndrome-specific pattern of cognitive strengths and weaknesses when measured with a more contemporary CHC-based cognitive battery (WJ-R: conflict of interest note--I am a coauthor of the next edition..the WJ III).

This study clearly suggests that even a population of individuals with a shared genetic causal mechanism display significant individual differences in patterns of cognitive abilities. If this is found in ID/MR populations with a strong shared genetic causal mechanism, one would be hard-pressed to argue that such variability does not exist for more milder forms of ID/MR and the general population.

My point (again)---I'm very concerned that the AAIDD 11th Edition ID manual's 'stuck on g' position is out of synch with contemporary intelligence theory and measurement and has the potential to cause serious harm when potentially life-altering decisions are made on the basis of a single g-based composite IQ scores that ignores the heterogeneity of human cognitive abilities across the ability spectrum and different disorders.

Porter, M. A. & Coltheart, M. Cognitive Heterogeneity in Williams Syndrome. Developmental Neuropsychology, 27 (2), 275-306."

Navigation ability may be linked to genes according to study with Williams Syndrome subjects

Navigation ability may be linked to genes | Machines Like Us: "In the study, Landau's team challenged people with Williams syndrome to watch while someone hid an object beneath a small cloth flap in one corner of a small rectangular room with four solid black walls that had no landmarks. Subjects were then blindfolded and spun around (think 'Pin the Tail on the Donkey') for about 10 seconds to disorient them. Once the blindfold was taken off, the subjects were asked to find the hidden object.

According to Landau, the people with Williams syndrome searched the four corners randomly; indicating that their ability to mentally visualize the layout of the room and quickly find which corner held the hidden object is severely impaired.

'They searched the room for the hidden object randomly, as if they had never before seen the overall geometry of the room or the lengths of the walls and their geometric – left and right – relation to each other,' Landau explained. 'If they could imagine the overall shape of the room's layout – that there are four walls, two of them long and two of them short and that the toy was hidden in a corner that has a short wall on the right and the long wall on the left – then they should have guessed that one of the two 'geometrically equivalent corners' was the right place. This is what typically developing humans do, as early as 18 months of age.'

Control subjects (healthy college-aged students) responded more typically, searching for the object in one of the two geometrically equivalent corners, as has been found in studies by many other investigators.

According to Landau, the results of this study provides another clue to the link between how genes work, how brains develop and become specialized and what can go wrong to result in very basic cognitive system malfunctioning.

'Although we are quite far from understanding the links between the specific genes that are missing in Williams syndrome and the behavior they show, such as failure to reorient, it is clear that the missing genes ultimately have some effect on the brain,' she said. 'Our evidence is the first to directly show a sub
stantial deficit in this reorientation system that is caused by missing genes in humans.'"