Downsyndrome.com

BEVERLY HILLS, Calif. — M.C. Bryan Cranston (Malcolm in the Middle) will present honors to individuals with Down syndrome for their accomplishments in the visual arts at the 2007 Spring Luncheon benefiting the Down Syndrome Association of Los Angeles and the National Down Syndrome Society.

Where:   The Beverly Hills Hotel, 9641 Sunset Blvd., Los Angeles, CA
When:    Tuesday, April 17, 2007 11:30 AM Reception, 12:30 Lunch
Tickets: $150 each
What:    Lunch, Awards, Silent Auction
Who:     Master of Ceremonies - Bryan Cranston, Actor -
         Malcolm in the Middle

Honorees:

The Vision Award honors individuals or programs who recognize the value of contributions made to the community by people with Down syndrome and other developmental disabilities, and through that vision has supported these individuals to achieve goals sharing their voice.

This year’s recipient of the Vision Award is L.A. Goal and their arts and merchandise program Inside Out Productions. As a day/work program L.A. Goal promotes the visual arts including painting and sewing. L.A. Goal has assisted their members in sharing their voices through the arts creating beautiful merchandise for sale. They hold an annual art show where the community is welcomed to come and purchase note cards, paintings, quilts, and more.

The Voices Awards honor individuals with Down syndrome who have shared their voice with the community through personal accomplishments. In 2007 the awards are being given to individuals who have done this through the visual arts. The DSALA will be awarding 6 Voices Awards.

Elizabeth Bogen of Santa Monica
Douglas Hedenberg of Culver City
Michael Johnson of Evanston, IL
Jenifer Noyes of Los Angeles
Hilary Shaw of Valley Village
Sara Tarrb of Long Beach

For 30 years, the Down Syndrome Association of Los Angeles has provided services to close to 2,000 families from all walks of life that include individuals with Down syndrome.

315 Arden Ave. Suite 25
Glendale, CA 91203

www.dsala.org

COPYRIGHT 2007 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

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STANFORD, Calif. — The two most prevalent forms of genetic mental retardation, Fragile X and Down syndromes, may share a common cause, according to researchers at Stanford University School of Medicine. The problem, a crippled communication network in the brain, may also be associated with autism.

Although the genetics of the disorders are very different, the end result for the brain seems to be the same, said Daniel Madison, PhD, associate professor of molecular and cellular physiology. "It’s as if you had every light in your house wired to just one or two switches, rather than having many switches that can be flipped on or off in complex combinations to control the lighting in one room," he said.

Madison is the senior author of a paper on Fragile X syndrome in mice, which will be published in the April 11 issue of the Journal of Neuroscience. He published a related study on mice with Down syndrome symptoms in the Feb. 15 issue of the Journal of Physiology.

Madison is a member of Stanford’s Down Syndrome Research Center, started in 2003 by researchers at the School of Medicine and Lucile Packard Children’s Hospital to accelerate the application of research to effective treatments for the condition.

In the latest study, Madison and postdoctoral scholar Jesse Hanson, PhD, studied Fragile X syndrome, which is a leading cause of mental retardation in this country. Affected people tend to have learning disabilities, distinct physical characteristics such as enlarged ears and a long face, and such behavioral problems as attention deficit disorder, speech disturbances and unusual responses to various sights or sounds. Although it’s not known why, about one-third of people with Fragile X also develop autism–a much higher percentage than in the general population. This makes Fragile X, which can be studied in mice, the only genetic model for autism.

As the syndrome’s name suggests, the responsible gene, called Fmr1, is located on the X chromosome. Because boys have only one X chromosome while girls have two, boys are usually more severely affected when Fmr1 is mutated. Girls are not immune to the condition, however. A phenomenon called X-inactivation, which randomly silences one member of every X chromosome pair, creates a mosaic of affected and unaffected nerve cells in the brain.

In some conditions linked to the X chromosome, such as hemophilia, the normal cells can cover for their useless peers. Not so for an elite corps of brain neurons. Here, where cooperation and communication are key, a few deadbeats in the mix can be disastrous.

The researchers’ discovery of the muddled communication networks in the brain hinged on two advances. One was their creation of an Fmr1 mosaic mouse with brain characteristics similar to those of people with Fragile X. The other was the use of specialized microscopes and tiny needles to eavesdrop directly on individual conversations between two cells. Before this study, investigators relied on a strain of mice in which every cell carried a mutated Fmr1 gene, and they inferred how cells communicated by results from experiments on groups of cells.

The new approach allowed Madison’s team to see that cells with a mutated Fmr1 gene have a very selective flaw: they are less likely than normal cells to reach out and form connections, or synapses, with their neighbors. Although normal cells in the mosaic brain can reroute around these potential dead ends, the resulting neural network has fewer cells and is less complex. "If, for example, 10 percent of normal nerve cells are now responsible for half your neural network, the information-carrying capacity of your brain goes down," he said.

Madison said the findings from this study point researchers in a new direction. "Until now the emphasis in the field has been on the receiving, or post-synaptic, side of the synapse," he said. "But these results unequivocally show that the pre-synaptic cells are the important ones in this defect."

The result paralleled the researchers’ earlier finding in the brains of the mice with Down syndrome symptoms: more connections are made by fewer cells. "We believe that these reduced-complexity networks are the basis for the mental retardation that occurs with both syndromes," Madison said.

If so, the problem is rooted in early development. Synapse formation appears at first to be completely disordered, with connections between neurons making random paths like hairline cracks racing across a breaking sheet of ice. But as the person or animal begins to learn and remember, the more well-trodden paths, or cracks, connect in purposeful, yet unique ways.

"No two nerve cells will always be connected in the same way in different people," said Madison. "But populations of cells will develop similar connections as the developing brain practices using its own network. If we can compensate for the synaptic deficiency of the mutant cells, we may begin to start to think about ways to increase the mental capacity of patients with Down syndrome or Fragile X."

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Fragile X syndrome (FXS) is the most common genetic cause of mental retardation (Dykens, Hodapp, & Finucane, 2000; Hagerman & Hagerman, 2002), occurring in 1 of every 4,000 individuals (Crawford, Acuna, & Sherman, 2001; Turner, Webb, Wake, & Robinson, 1996). Fragile X Mental Retardation Protein (FMRP) is produced by the Fragile X Mental Retardation-1 (FMR1) gene and is believed to be essential for normal brain functioning (Devys, Lutz, Rouyer, Bellocq, & Mandel, 1993; Jin & Warren, 2003).

The FMR1 gene becomes methylated (shuts down) in individuals with the …

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A summer wedding story by itself isn’t news. But when a young couple with Down syndrome married last July, Time magazine profiled the couple’s courtship from their first kiss to their plans for the future. Such coverage reminds all of us about the possibility for and the rights of individuals with developmental disabilities such as Down syndrome to healthy and satisfying sexual expression.

Pediatricians can play a key role in providing the support, education, and professional services necessary to address these issues.

The issues can range from helping establish privacy and …

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SNOWMASS, COLO. — A number of skin conditions can mimic scleroderma, but there are a few tricks that can help nail down the correct diagnosis, Dr. Daniel E. Furst said at a symposium sponsored by the American College of Rheumatology.

"The key to all of these sclerodermalike syndromes is that they don’t have Raynaud’s syndrome," said Dr. Furst, director of the Rheumatology Clinical Research Center at the University of California, Los Angeles.

"A patient with sclerodermalike skin without Raynaud’s should really ring bells for you," he emphasized.

Dr. Furst …

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