Thursday, January 8, 2009

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."

Sunday, December 21, 2008

Arkansas WS Boy Gets Free Shopping Trip

NWAnews.com :: Northwest Arkansas' News Source:

"Anthony has some obstacles to overcome should he ever become a cop. He was born with Williams Syndrome, a genetic condition that includes problems and abnormalities throughout his body.

With Anthony, the shopping trip was going to be a bit of a show, and any officer with him was going to be entertained. Rumor had it several officers had their fingers crossed they would be with Anthony. Weimer didn't say much about his pairing; mostly he just smiled.

Anthony entertained the salespeople, singing happy birthday to one who was 'just a little bit older than 14,' and introducing himself to almost everyone he met, except for the ones he already knew from last year, who he addressed like old friends."

Friday, December 19, 2008

How genes can contribute to hypersocial behavior in people with Williams Syndrome

How genes can contribute to hypersocial behavior « Biomarker-driven mental health 2.0:

"In their current paper, Sarpal and colleagues measured brain activity as well as correlations of activity (connectivity) between brain regions as patients with WS passively viewed visual objects (faces and houses). They report that connections from early visual processing areas (fusiform and parahippocampal gyrus) in WS are actually weaker to the frontal cortex and amygdala. Since activation of the frontal cortex and amygdala are associated with inhibition and fear, it may be case that the weaker connections from early visual areas to these regions gives rise to the type of gregarious and prosocial (a lack of fear and inhibition) behavior seen in WS. In further pinpointing where in the brain the genes for WS might be causing a developmental change, the authors point to the ventral lip of the collateral sulcus, an area situated between the fusiform and parahippocampal gyri. This may be the spot to more closely examine the role of genes such as LIMK1 - a gene that participates in the function of the actin cytoskeleton (an important process in synaptic formation)."

Tuesday, December 16, 2008

The part-time parents who help struggling families to cope with a labour of love - Times Online

Times charity: Action for Children: The part-time parents who help struggling families to cope with a labour of love - Times Online:

"This is where Action for Children, a charity being supported by The Times Christmas Appeal, comes in. In one of many shared-care schemes that the charity operates throughout Britain, David and Wendy West, from Oakdale, near Blackwood, South Wales, now look after Dion for a weekend every fortnight, offering Ms Evans a respite from the demands of his constant care. “He just becomes part of the family every other weekend,” Mrs West, who has two daughters of her own, said. “We go walking the dogs, to the cinema, out for a picnic or to church on a Sunday. Whatever we are doing, he fits in.”

Having looked after Dion for seven years, the Wests are familiar with his medication and dietary needs, much of which fills the little Spider-Man suitcase that he brings with him when he comes to stay. They became interested in shared care as a less committed option after considering long-term fostering, and now look after Sian, an 18-year-old girl with Williams syndrome, a rare condition that results in learning and developmental problems."

Saturday, December 13, 2008

Clare's Journey: Reality

Clare's Journey: Reality:

"I don't know if Clare realizes yet how she is different from other children. But I do, and it hurts."

Wednesday, December 10, 2008

SpringerLink - Journal Article

SpringerLink - Journal Article:

"In conclusion, our data represent the largest collection of individuals with Williams syndrome who underwent cardiac catheterization and/or operation. The data suggest that children with Williams syndrome and bilateral outflow tract obstruction have statistically and clinically significantly higher mortality associated with catheterization or operation."

Monday, November 3, 2008

Teenager overcomes obstacles to play cymbals in high school marching band

One evening in late September, Kevin and his mother, Lynn James, sat in the stands, near the band as usual, when bandmaster Brown walked toward them.

"He asked if I thought Kevin would like to join the band next Friday and play the cymbals," Lynn said.

She could barely speak, she was so emotional and excited. Her son was overjoyed.

The next Friday, Kevin put on a band uniform and walked slowly - because he is partially paralyzed - onto the field to participate in one song - "The Star-Spangled Banner."

He hit the cymbals in perfect time.

Oct. 17, marked his third time playing the cymbals for the marching band. His mother wasn't the only one cheering for him in the stands.

Saturday, November 1, 2008

Party to connect Williams syndrome sufferers - Milford, MA - The Milford Daily News

Party to connect Williams syndrome sufferers - Milford, MA - The Milford Daily News:

"Ducharme, the mother of 2-year-old triplets, learned one of them had Williams syndrome about six months ago. The rare genetic condition causes medical and developmental problems.

In comparing Lucien to his two sisters, Ducharme said her son has developed more slowly. He just recently learned to walk and can only speak single words while his sisters can recite sentences."

Tuesday, October 28, 2008

Dispatch Interview - How's Your News? on Vimeo

Dispatch Interview - How's Your News? on Vimeo:

"HYN reporter Jeremy Vest gets a rare interview with the nations most successful independent band, Dispatch."


Jeremy Vest is one of several reporters on the upcoming MTV show, How's Your News. Jeremy has Williams Syndrome.

Monday, October 27, 2008

Louisville Benefit for Williams Syndrome Association

Thursday: Benefit for Williams Syndrome Association | courier-journal | The Courier-Journal:

"Check your diets at the door and enjoy a sampling of 10 desserts to raise funds for the Williams Syndrome Association. The all-day benefit will be from 10 a.m. to 10 p.m. Thursday at Sweet Surrender Dessert Cafe in Crescent Hill.

Williams Syndrome is a rare genetic disorder characterized by physical and developmental disabilities. It occurs in about one out of every 7,500 births.

During the day a 10-inch cake and other prizes will be raffled, with proceeds to benefit the association."

Tuesday, October 21, 2008

Family struggles to save child

malvern-online.com - Family struggles to save child:

"The family received news that Trinity was diagnosed with a condition that many doctors had never seen. Trinity has Williams Syndrome that has caused her to have a rare and very severe heart condition, Familial Arteriopathy with Associated Pulmonary and Systemic Arterial Stenosis.
Every artery in Trinity’s little body is three to five times smaller than normal. There is no known treatment in the United States at this time. Only one case of this condition has been recorded in medical history and it was reportedly not as severe as Trinity's condition."

Trenton Williams makes a big impact

Trenton makes a big impact:

"Trenton Williams, 12 has made a big impact on several lives. The 6th grade special needs patient recently went into kidney failure. Whether he's playing the piano, riding his bike or jumping on a trampoline. Trenton Williams always has a smile on his face. Little Trenton was born with a rare genetic disorder known as Williams Syndrome.
Last month things got worse when Trenton went in for a routine biopsy. The family learned less than 10 percent of his kidney was functioning. The Turner Elementary 6th grader was going into kidney failure.
When word got out that Trenton needed another kidney his mom Danielle was flooded with calls from people wanting to help including some city council members, school officials and friends.
Fortunately Danielle doctors called her on her birthday to let her know she and Trenton have matching blood types. In the next three months they will go to an hospital in New Orleans and make his dream a reality."

Friday, October 3, 2008

The Official Parent's Sourcebook on Williams Syndrome

The Official Parent's Sourcebook on Williams Syndrome:

"This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to williams syndrome (also Beuren Syndrome; Early Hypercalcemia Syndrome with Elfin Facies; Elfin facies syndrome; Elfin Facies with Hypercalcemia; Fanconi type idiopathic infantile hypercalcemia; Hypercalcemia-Supravalvar Aortic Stenosis), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on williams syndrome. Given parents' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated)."