Recent Mental Retardation News as of Jul 29, 2010
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Early Promise for Mental Retardation Drug
Wed, 5 May 2010 07:33:30 - Pacific Time
Novartis is reporting early success for a new drug for fragile X syndrome, a disorder associated with mental retardation and autism, according to an article in The New York Times. Fragile X is the most common inherited form of mental retardation and the most common known cause of autism. Scientists hope that drugs that help fragile X will help other forms of autism as well. Intitial results in a small number of patients suggest the drug is most effective in people with an undisclosed biological marker. A number of other companies are testing similar compounds, a prospect that has the autism community excited. "I think that fragile X-targeted treatments are at the cutting edge of reversing cognitive deficits in individuals with neurodevelopmental disorders," Randi Hagerman, medical director of the M.I.N.D. Institute at the University of California, Davis, told me when reporting a previous story on a similar drug. Hagerman consults with a number of companies, including Seaside, that are developing treatments for fragile X syndrome. "This could lead to reversing intellectual disabilities and behavioral problems with this disorder," she says. "That is extremely exciting." "Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder needing medication," Dr. Thomas R. Insel, director of the National Institute of Mental Health, told the NYT. "Any positive results from clinical trials will be amazingly hopeful." Read More...
White House Meeting Draws ‘R-Word’ Apology, Pledge From Emanuel
Thu, 4 Feb 2010 07:42:15 - Pacific Time
White House Chief of Staff Rahm Emanuel apologized to a group of disability advocates Wednesday for using the word "retarded" and said he would pledge to help end use of the word. Emanuel met with leaders from Special Olympics, The Arc of the United States and the American Association of People with Disabilities as well as two self-advocates and a parent advocate Wednesday at the White House. The meeting came more than a week after The Wall Street Journal quoted Emanuel using the phrase "f—ing retarded." "He sincerely apologized for his mistake and the pain it caused in our community," the advocates said in a joint statement following their meeting with Emanuel. "This is another small step on the road to a country that accepts the gifts of all." Last week, Emanuel called Special Olympics CEO Tim Shriver to apologize for the comment. But the private apology was considered inadequate by many in the disability community. The issue erupted, however, when former vice presidential candidate Sarah Palin wrote about Emanuel’s use of the "slur" on her Facebook page this week and called for him to be fired. In addition to the apology, Emanuel said he would take the Special Olympics pledge to end use of the r-word. The pledge is part of the organization’s "Spread the Word to End the Word" campaign.Furthermore, Emanuel said the administration would review proposed federal legislation that would replace references to "mental retardation" with the term "intellectual disability" throughout federal law. Read More...
Drugs tested to improve learning in Fragile X syndrome, may give autism hints
Tue, 2 Feb 2010 01:18:05 - Pacific Time
A pill to ease a type of mental retardation? An experiment is under way to develop one, aimed at a genetic disorder that might unravel some of the mysteries of autism along the way. Chances are you've never heard of the target - Fragile X syndrome - even though it's the most common inherited form of intellectual impairment, estimated to affect almost 100,000 Americans. It's also the most common cause of autism yet identified, as about a third of Fragile X-affected boys have autism. Now a handful of drug makers are working to develop the first treatment for Fragile X, spurred by brain research that is making specialists rethink how they approach developmental disorders. "We are moving into a new age of reversing intellectual disabilities," predicts Dr. Randi Hagerman, who directs the MIND Institute at the University of California, Davis, a study site. Fragile X, more common in males than females, ranges from learning disabilities to severe cognitive impairment, along with emotional and behavioural problems. The genetic defect disrupts a basic foundation of learning: How brain cells respond to experiences by forming connections between each other, called synapses. Those structures aren't destroyed - they're too immature to work properly. "The process of learning is just that much more difficult but not impossible, because there's nothing wrong with the synapse," says Dr. Stephen Warren, an Emory University geneticist who led the discovery of Fragile X's mutated gene. The experimental drugs have an unwieldy name - mGluR5 antagonists. But they aim to get the brain back on track by simply blocking an overactive receptor that plays a key role in weakened synapses. The goal is to strengthen synapses, to make learning easier and behaviour more normal. These are early-stage studies, beginning in adults to look for side effects. Specialists expect, if they work, any effect would be bigger in children's still-developing brains. Scientists are watching closely because "this looks like a really promising pathway" for some types of autism, too, says Dr. Andrea Beckel-Mitchener of the National Institute of Mental Health which, along with the patient advocacy group FRAXA, helped fund the underlying research. Read More...
Loss of epigenetic regulators causes mental retardation
Sat, 9 Jan 2010 06:37:28 - Pacific Time
Developing neurons don’t just need the right genes to guide them as they grow, they need access to the right genes at the right times. The improper functioning of one specific protein complex that normally suppresses gene activation is responsible for a mental retardation-like syndrome in mice, reports a team of scientists at The Rockefeller University. New findings, published in recent issues of Neuron and Science, indicate that malfunction of this protein complex causes mental retardation in mice and humans and may even play a role in promoting susceptibility to drug addiction. The research also establishes the complex as a key regulator of neuronal transcriptional identity. "This research is the result of a close collaboration between our group and that of Alexander Tarakhovsky, which is focused on understanding the role of epigenetic mechanisms in brain function, such as learning and memory," says senior coauthor Paul Greengard, Vincent Astor Professor and head of the Laboratory of Molecular and Cellular Neuroscience. Greengard won the 2000 Nobel Prize in Physiology or Medicine for research into how neurons communicate. "Our findings may facilitate the identification of mechanisms responsible for long-term storage of environmental information in neurons as well as other cell types," says senior coauthor Tarakhovsky, professor and head of the Laboratory of Lymphocyte Signaling. "We now have an animal system that not only reproduces the human disease but may also enable us to understand the underlying mechanisms." Read More...
Amount of Gene Surplus Determines Severity of Mental Retardation in Males, Researchers Find
Fri, 11 Dec 2009 07:28:09 - Pacific Time
Researchers have discovered a new explanation for differences in the severity of mental illness in males. The more excess copies of a certain gene, the more serious the handicap. The genetic defect is situated on the X-chromosome; and it is suspected that it is the amount of copies of the GDI1 gene that is responsible. The results are being published in the American Journal of Human Genetics, and are the result of work by the group of Guy Froyen connected to VIB, a life sciences research institute in Flanders, Belgium at the University of Leuven, in close collaboration with Hilde Van Esch of the Center for Human Genetics (University Hospital Leuven) and colleagues in Germany and Spain. It is for first time that scientists have linked the degree of a mental illness to the number of copies of a gene on the X-chromosome, normally present as a single copy in males. The mental handicap is much more severe in patients with 5 copies than in patients with 2 copies. An intermediate severity has been observed in case of 3 copies. In their publication, the scientists also present a new mechanism by which such defects can arise. This mechanism might also underlie other genetic disorders. Read More...
Developmental Delay Could Stem From Nicotinic Receptor Deletion
Fri, 27 Nov 2009 17:13:41 - Pacific Time
The loss of a gene through deletion of genetic material on chromosome 15 is associated with significant abnormalities in learning and behavior, said a consortium of researchers led by Baylor College of Medicine in a report that appears online today in the journal Nature Genetics. "This research goes about 95 percent of the way to pinning these problems in a specific group of individuals to this gene," said Dr. Arthur L. Beaudet, chair of molecular and human genetics at BCM. He believes that the deletion will be identified in other people with behavioral problems as well as schizophrenia, developmental delay and epilepsy. The gene's role in schizophrenia has been under study for some time. Previously, a larger deletion containing more genes had been reported in people with the same constellation of disorders. In this work, Beaudet, Dr. Pawel Stankiewicz, assistant professor of molecular and human genetics at BCM, and colleagues found that a smaller deletion of genetic material -- the whole of the gene in question, CHRNA7, and a part of another -- was associated with similar problems in 10 members of four families. "We scanned the genome of about 10,000 people to find this rare but important defect," said Stankiewicz."This gene encodes a subunit of a nicotinic receptor," said Beaudet. "It is a gene that mediates the response to nicotine via a receptor whose normal ligand is acetylcholine." The gene encodes a protein called an ion channel, which allows ions to flow in and out of neurons in the brain. Defects in ion channels have previously been associated with forms of epilepsy or seizure disorder. Read More...
Senators Propose Replacing ‘Mental Retardation’ With ‘Intellectual Disability’
Fri, 27 Nov 2009 17:08:01 - Pacific Time
The federal government would replace the term "mental retardation" with "intellectual disability" throughout health, education and labor policy under a bill introduced Tuesday in the Senate.The legislation would not change the services or rights afforded to individuals, but would merely alter the federal government’s terminology. In recent years there has been a push across the country to do away with the use of “mental retardation,” which many consider outdated and offensive. Several states have stripped the term from their laws and agencies. And, earlier this year Special Olympics launched a campaign asking people to pledge not to use what they dubbed the R-word. The bill introduced Tuesday by Sen. Barbara Mikulski, D-Md., and Sen. Michael Enzi, R-Wyo., is named Rosa’s Law after Rosa Marcellinos, a girl from Maryland with an intellectual disability. "In changing the language, we believe that it will be start of new attitudes towards people with intellectual disabilities. Hopefully, people will associate new words with the very able and valuable people that go to school, work, play soccer or live next door," Mikulski said. Mikulski pointed out that the bill would create consistency across government. She said some government agencies already use the term intellectual disability including the Centers for Disease Control and Prevention, the World Health Organization and the Committee on Individuals with Intellectual Disabilities which used to be known as the President’s Committee on Mental Retardation. Read More...
Gene linked to mental development
Sun, 19 Apr 2009 15:59:35 - Pacific Time
A female genetic X-factor has been discovered that holds back men's mental development. An investigation by 70 researchers around the world identified nine genes on the female X-chromosome that cause mental retardation when they go wrong. The defective genes are most likely to affect men because they only have one X-chromosome paired with a male Y chromosome. In women, who have two X-chromosomes, the harmful effects of one can be counteracted if the other is functioning normally. The scientists worked out the chemical sequences for 720 for the estimated 800 known genes on the X-chromosome in more than 200 families affected by X-linked learning disabilities. "This is the largest sequencing study of complex disease ever reported," said Professor Mike Stratton, from the Wellcome Trust Sanger Institute in Hinxton, Cambridgeshire, who co-led the study. Read More...
Disabilities advocates aim to banish 'R-word'
Sun, 19 Apr 2009 15:56:37 - Pacific Time
"I've been called retarded all my life," said Cardenas, a 39-year-old Beeville woman who has her own apartment, volunteers regularly and wants to start a business that is an advocate for people with disabilities. "It made me feel like I was nobody." It's been decades since advocates began fighting to end derogatory language about people with mental disabilities. Today, some once-common terms used to describe them — "feebleminded," "Mongoloid," and "imbecile" — are all but gone. But the word "retarded" remains. Now the R-word, as disabilities advocates call it, is the target of a national campaign to eliminate its use in both government and casual conversation. Through legislation and public relations campaigns, they're trying to change the country's vocabulary. State Sen. Judith Zaffirini, D-Laredo, is pushing a bill that would ban terms including "mental retardation" in all state statutes and resolutions and replace them with such phrases as "intellectual disabilities." The Austin Travis County Mental Health Mental Retardation Center plans to rename itself without the phrase "mental retardation." Read More...
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