Learning disabled athletes make a welcome return to the Olympic fold

Guardian UK (July24, 2012)- Like other elite athletes, Victoria Bromley exhibits impressive commitment and drive. Since first taking up table tennis at the age of 10 she has won a string of competitions. Now at 26, she is training upwards of 25 hours a week in preparation for the Paralympic Games.

Bromley, who lives in Wolverhampton and works full time as a carer, is one of nine British athletes with a learning disability to qualify for the 2012 Games. She is clearly thrilled. "It was such an enormous surprise," she says. "I couldn't believe it. I'm training really hard, and really looking forward to going to London."

The Games will be the first for 12 years in which athletes with learning disabilities will be allowed to compete. A controversial ban was imposed by the International Paralympics Committee after the Sydney Games in 2000, which saw the Spanish basketball team stripped of its gold medals after some members were accused of faking learning disabilities. The lifting of the ban means people with learning disabilities are now permitted to compete in certain events in three sports: swimming, athletics and table tennis.

"It's so good that learning disability is allowed back in," says Bromley, who has a mild disability that affects her ability with literacy and numeracy. While qualifying for the Paralympic Games is a formidable achievement for Bromley, she says she could not have done it without the support of her partner, friends, teachers, and in particular, Special Olympics – a global organisation that works year-round with people with learning difficulties.

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Promising Step Forward Toward Muscular Dystrophy Treatment: Symptoms Reversed in Mice

ScienceDaily (Aug. 1, 2012) — Scientists have reversed symptoms of myotonic muscular dystrophy in mice by eliminating a buildup of toxic RNA in muscle cells. The work, carried out by scientists at the University of Rochester Medical Center, Isis Pharmaceuticals Inc. and Genzyme, is published in the August 2 issue of Nature.

After experimental antisense compounds were administered to mice twice a week for four weeks, symptoms of the disease were reduced for up to one year -- a significant portion of a mouse's lifespan.

The investigators say that while the work is an encouraging step forward against myotonic dystrophy, one of the most common forms of muscular dystrophy, it's too soon to know whether the approach will work in patients. But they are cautiously optimistic, noting that the compound is extremely effective at reversing the disease -- whose genetic underpinnings make it particularly vulnerable to an antisense approach -- in a mouse model.

"These results give us strong encouragement about the possibility of developing a treatment that could fundamentally alter the disease. It's an important step on a long path," said senior author Charles Thornton, M.D., a neurologist at the University of Rochester Medical Center who has been pursuing new treatments for the disease for more than two decades.

"But, it's too early to know if this treatment will work as well in people as it did in the laboratory. Unfortunately, in biomedical research there are previous examples of compounds that worked in mice but not in people," added Thornton, the Saunders Family Distinguished Professor in Neuromuscular Research.

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First Indication of People Naturally Protected Against Rabies Found in Remote Amazonian Communities Regularly Exposed to Vampire Bats

ScienceDaily (Aug. 1, 2012) — Challenging conventional wisdom that rabies infections are 100 percent fatal unless immediately treated, scientists studying remote populations in the Peruvian Amazon at risk of rabies from vampire bats found 11 percent of those tested showed protection against the disease, with only one person reporting a prior rabies vaccination. Ten percent appear to have survived exposure to the virus without any medical intervention. The findings from investigators at the U.S. Centers for Disease Control and Prevention (CDC) were published August 2in the August 2012 issue of the American Journal of Tropical Medicine and Hygiene.

"The overwhelming majority of rabies exposures that proceed to infections are fatal. However, our results open the door to the idea that there may be some type of natural resistance or enhanced immune response in certain communities regularly exposed to the disease," said Amy Gilbert with the CDC's National Center for Emerging and Zoonotic Infectious Diseases, who is the paper's lead author. "This means there may be ways to develop effective treatments that can save lives in areas where rabies remains a persistent cause of death."

Rabies experts estimate the disease kills 55,000 people each year in Africa and Asia alone, and appears to be on the rise in China, the former Soviet Republics, southern Africa, and Central and South America. According to the CDC, in the United States, human deaths from rabies have declined over the past century from 100 annually to an average of two per year thanks to an aggressive campaign to vaccinate domestic animals against the disease.

Football Player Who Killed Himself Had Brain Disease

NY Times (July 26, 2012)- An autopsy report released this week, just before N.F.L. training camps opened, concluded that the former Atlanta Falcons safety Ray Easterling, who committed suicide in April, had a degenerative brain disease widely connected to athletes who have absorbed frequent blows to the head.

Easterling, who played for the Falcons for eight seasons in the 1970s, began coping with apparent dementia and depression about a decade into his retirement. Easterling was 62 when he died of a self-inflicted gunshot wound at his longtime home in Richmond, Va.

The autopsy by the medical examiner in Richmond found signs of chronic traumatic encephalopathy, progressive damage that has been linked to blows to the head, and determined that it was the underlying major condition that accounted for Easterling’s difficulties.

Learning the results was bittersweet for his widow, Mary Ann Easterling, who spoke Thursday just hours after the N.F.L. rolled out a confidential mental health hot line developed and operated in part by specialists in suicide prevention.

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Swimwear Designer Plucks Model With Special Needs

Disability Scoop (July 24, 2012)- In what’s believed to be a first, a Miami girl with Down syndrome is the new face of a major fashion designer’s ad campaign.

At 10-months-old, Valentina Guerrero is the cover girl for Spanish swimwear designer Dolores Cortés’ new U.S. catalog and will be featured in ads for the brand’s DC Kids line.

“People with Down syndrome are just as beautiful and deserve the same opportunities. I’m thrilled to have Valentina modeling for us,” Cortés said, according to Adweek.

In addition to featuring Guerrero in her advertisements, Cortés also brought the youngster out on the runway during Fashion Week in Miami last Friday.

The designer has pledged to donate 10 percent of profits from the swimwear collection to the Down Syndrome Association of Miami.

Guerrero is one of a handful of children with Down syndrome who are stealing the spotlight in recent times. Earlier this year, a 6-year-old from New Jersey with the chromosomal disorder made headlines when he appeared in a national Target circular. And last year, a British toddler with Down syndrome scored modeling deals for a global toy store and a clothing shop.

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Special Education Funding May Drop $900 Million

Disability Scoop (July 26, 2012)-The nation’s top education official is warning that special education programs across the country will face “devastating” budget cuts next year unless Congress acts.

Federal education spending for students with disabilities could be reduced by $900 million next year, U.S. Secretary of Education Arne Duncan told a U.S. Senate panel Wednesday.

That could translate to layoffs for over 10,000 teachers, aides and other staff who support the nation’s 6.6 million students with special needs, he said.

The cuts are expected to begin taking effect in January under a process known as sequestration which was triggered last year when Congress failed to reach a budget deal. Under the plan, education programs as well as most other federal initiatives will be subject to an across-the-board spending reduction of about 8 percent.

Unless Congress acts, special education cuts would impact schools starting in the fall of 2013, Duncan said.

“We all know that there are steps we can take so we don’t have to start down this path that puts so many critical services to students, families and communities at risk,” Duncan told senators. “As everyone knows, sequestration does not have to happen and should not happen.”

If the budget cuts go through as planned, federal spending on special education would fall to 14.5 percent, the lowest rate seen since 2001, according to an estimate from the Council for Exceptional Children, a national group that lobbies on behalf of special educators.

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Gene Therapy Holds Promise for Reversing Congenital Hearing Loss

ScienceDaily (July 25, 2012) — A new gene therapy approach can reverse hearing loss caused by a genetic defect in a mouse model of congenital deafness, according to a preclinical study published by Cell Press in the July 26 issue of the journal Neuron. The findings present a promising therapeutic avenue for potentially treating individuals who are born deaf.

"This is the first time that an inherited, genetic hearing loss has been successfully treated in laboratory mice, and as such represents an important milestone for treating genetic deafness in humans," says senior study author Lawrence Lustig of the University of California, San Francisco.

Hearing loss is one of the most common human sensory deficits, and it results from damage to hair cells in the inner ear. About half of the cases of congenital hearing loss are caused by genetic defects. However, the current treatment options -- hearing amplification devices and cochlear implants -- do not restore hearing to normal levels. Correcting the underlying genetic defects has the potential to fully restore hearing, but previous attempts to reverse hearing loss caused by genetic mutations have not been successful.

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Buddy Walk 2012

Walk Details: Columbia Buddy Walk

Walk Date:	Oct 28, 2012
Walk Time:	2:00 PM
Walk Name:	Columbia Buddy Walk
Address	Saluda Shoals Park 5605 Bush River Road
City:	Columbia
State:	SC
Zip Code	29212
Country	United States
Organizer Name	Seana McKee
E-Mail:	info@familyconnectionsc.org
Phone	(803) 252-0914
Website	www.familyconnectionSC.org

Walk Details: Family Connection Spartanburg Buddy Walk

Walk Date:	Oct 6, 2012
Walk Time:	1:00 PM
Walk Name:	Family Connection Spartanburg Buddy Walk
Address	355 Cedar Springs Road
City:	Spartanburg
State:	SC
Zip Code	29302
Country	United States
Organizer Name	Lisa Anderson
E-Mail:	lisaanderson@familyconnectionsc.org
Phone	864-585-5462
Website	www.familyconnectionsc.org

Making Sickle Cell Disease a Manageable Illness

New York Times (July 22, 2012)-On most days Giovanna Poli acts like a typical 12-year-old. She enjoys riding bikes with her brother, likes learning about the planets in science class and wants to be a pediatrician when she grows up.

But Giovanna, a brown-haired girl from West Palm Beach, Fla., also suffers from debilitating pain, recurring infections and organ damage. She was born with sickle cell disease, a genetic disorder with unpredictable complications that causes the red blood cells to assume an abnormal sickle shape, making it difficult for blood to flow through vessels and deliver oxygen throughout the body.

“I usually feel good,” she says. “But some days it hurts so much in my legs and arms. I can’t really walk, and I don’t like people touching me. If it’s really bad, I have to go to the hospital.”

Every year, nearly 1,000 babies in the United States are born with sickle cell disease, which is thought to affect about 100,000 Americans. Forty years ago, the outlook for babies born with the disease was pretty bleak; the average child lived to be only 14. However, over the last four decades, new treatments, early intervention techniques and newborn screening programs have helped turn this disease, which was once a death sentence, into a manageable chronic illness.

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Feds Redouble Disability Employment Efforts

Disability Scoop- (July 19, 2012)-Two federal agencies are joining forces in an effort to expand employment among those with intellectual and developmental disabilities.

Under an agreement reached this week, the U.S. Department of Labor’s Office of Disability Employment Policy and the Administration on Intellectual and Developmental Disabilities plan to work together to encourage broader adoption of so-called “employment first” policies.

The approach emphasizes integrated employment — where people with disabilities earn at least minimum wage working in environments where most employees are typically developing — as a first option for all individuals no matter how severe their needs.

The agencies plan to work together for at least the next two years to promote employment first by sharing information and resources, issuing joint policy statements and other efforts, according to the agreement.

Several states from Oregon to Delaware already have employment first policies or initiatives in place. By combining resources and working more closely together, officials at the Labor Department and the Administration on Intellectual and Developmental Disabilities say they hope to spur greater expansion.

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Mutations in Autism Susceptibility Gene Increase Risk in Boys

ScienceDaily (July 11, 2012) — Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).

Mutations in the AFF2 gene, and other genes like it on the X chromosome, may explain why autism spectrum disorders affect four times as many boys as girls.

The mutations in AFF2 appeared in 2.5 percent (5 out of 202) boys with an ASD. Mutations in X chromosome genes only affect boys, who have one X chromosome. Girls have a second copy of the gene that can compensate.

The results were published July 5 in the journal Human Molecular Genetics.

"Our data suggest that AFF2 could be one of the major X-linked risk factors for ASD's," says senior author Michael Zwick, PhD, assistant professor of human genetics at Emory University School of Medicine.

The finding bolsters a growing consensus among geneticists that rare variants in many different genes contribute significantly to risk for autism spectrum disorders.

The mutations in the AFF2 gene probably do not cause ASDs all by themselves, Zwick says.

"We do not think that the variants we have identified are monogenic causes of autism," he says. "Our data does support the idea that this is an autism susceptibility gene."

In some situations, mutations in a single gene are enough by themselves to lead to a neurodevelopmental disorder with autistic features, such as fragile X syndrome or tuberous sclerosis complex. But these types of mutations are thought to account for a small number of ASD cases.

Recent large-scale genetic studies of autism spectrum disorders have identified several "rare variants" that sharply increase ASD risk. Scientists believe rare variants could explain up to 15 or 20 percent of ASD cases. However, until now no single variant has been found in more than one percent of ASD cases.

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Drug Shown to Improve Memory in Those With Down Syndrome

ScienceDaily (July 17, 2012) — Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

"Before now there had never been any positive results in attempts to improve cognitive abilities in persons with Down syndrome through medication," said Alberto Costa, MD, Ph.D., who led the four- year study at the CU School of Medicine. "This is the first time we have been able to move the needle at all and that means improvement is possible."

The study was published July 17 in the journal Translational Psychiatry.

Costa, an associate professor of medicine, and his colleagues studied 38 adolescents and young adults with Down syndrome. Half took the drug memantine, used to treat Alzheimer's disease, and the others took a placebo.

Costa's research team hypothesized that memantine, which improved memory in mice with Down syndrome, could increase test scores of young adults with the disorder in the area of spatial and episodic memory, functions associated with the hippocampus region of the brain.

Participants underwent a 16-week course of either memantine or a placebo while scientists compared the adaptive and cognitive function of the two groups.

While they found no major difference between the groups in adaptive and most measures of cognitive ability, researchers discovered that those taking memantine showed significant improvement in verbal episodic memory. One of the lowest functioning individuals in the study saw a ten-fold increase in memory skills.

"People who took the medicine and memorized long lists of words did significantly better than those who took the placebo," said Costa, a neuroscientist specializing in Down syndrome research. "This is a first step in a longer quest to see how we can improve the quality of life for those with Down syndrome."

Currently, there are drugs that treat the symptoms of medical conditions associated with Down syndrome but nothing to improve brain function.

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Disability Rights A Focus In Senate

Disability issues topped the agenda on Capitol Hill this week as members of the U.S. Senate convened two hearings focusing on the rights of those with special needs.

While a Senate panel considered ratification of the United Nations Convention on the Rights of Persons with Disabilities Thursday morning, a separate committee met in the same building to consider legislation that would regulate the use of restraint and seclusion in schools.

The hearings marked the first time that either issue was taken up by the body.

Consideration of the U.N. Convention comes nearly two months after President Barack Obama sent senators the international treaty, which calls for greater community access and a better standard of living for the estimated 650 million people around the world with disabilities.

Disability Scoop- (July 13, 2012)-Already 153 countries have signed the disability convention and 117 have ratified it, according to the U.N. While the United States signed on in 2009, Senate approval is needed to make participation official.

The convention has broad support with over 165 organizations urging ratification and the backing of a bipartisan group of senators, including Sen. Tom Harkin, D-Iowa, and Sen. John McCain, R-Ariz., both of whom spoke at the hearing.

“(The treaty) will provide the United States with a critical platform from which to urge other countries to improve equality of individuals with disabilities, including Americans who travel or live abroad, and including children with disabilities, whose plight is particularly neglected in many parts of the world,” Judith Heumann, special adviser for international disability rights at the U.S. Department of State told the Senate committee.