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(Health) Autism: The Age of Autism: Jabbing the MMR
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adedios
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PostPosted: Fri Feb 17, 2006 11:29 am    Post subject: (Health) Autism: The Age of Autism: Jabbing the MMR Reply with quote






The Age of Autism: Jabbing the MMR
By DAN OLMSTED

For two countries that share a common heritage and -- mostly -- a common language, the differences between the United States and Britain can be striking. We drive on different sides of the road; Americans call injections shots, the Brits call them jabs.

And in the debate over whether those jabs can cause autism, the focus in the United States has mostly been on a mercury preservative, while across the Atlantic the issue is the MMR -- the measles, mumps and rubella vaccine.

Now the MMR debate has caught fire again in Britain, despite thoroughgoing efforts by the government and health authorities to stamp it out. The question becomes: Will MMR now face more scrutiny in "the states"?

"A former British government medical officer responsible for deciding whether medicines are safe has accused the government of 'utterly inexplicable complacency' over the MMR triple vaccine for children," the Daily Mail reported last week.

The official, Dr. Peter Fletcher, was chief scientific officer at the Department of Health -- not a minor post. He became an expert witness for parents' lawyers, which of course creates a competing interest that needs to be factored in. But Fletcher said his new role gave him access to documents that deeply concerned him.

"There are very powerful people in positions of great authority in Britain and elsewhere who have staked their reputations and careers on the safety of MMR and they are willing to do almost anything to protect themselves," he said.

Strong stuff, but not strong enough to shake the certainty of British health officials that the three-in-one live virus shot and every other routine immunization is safe, effective -- and essential in its present form.

"Britain's leading child health experts united this weekend to reassure parents that the use of multiple vaccines for children was safe, calling claims to the contrary 'irresponsible'", the Observer reported on Sunday.

"The only previous connection drawn between multiple vaccines and illness was in 1996 when autism was blamed on immunisation for mumps, measles and rubella (MMR). The link was refuted by all subsequent studies."

In true Fleet Street fashion, the Observer took a swipe at the competition as well as the contrary viewpoint.

"Groups like the anti-vaccine campaign Jabs, backed by several tabloid newspapers, argued that (more vaccines) would put too much strain on children's immune systems. They said previous combinations of vaccines had triggered serious side-effects in children. The claim was flatly rejected by scientists."

Well, apparently not by all scientists, considering Fletcher's comments.

There is a lot of history -- one might say, histrionics -- in Britain over the MMR, including the departure of the man who first proposed a possible link in 1998, Dr. Andrew Wakefield. He decamped to the United States, where he and doctors concerned he may be on to something persist -- at considerable professional risk -- in studying the issue.

The U.S. Centers for Disease Control and Prevention recommended in 1999 that vaccine manufacturers phase out thimerosal, the mercury-based preservative that was in several childhood vaccines. By now, most routine childhood immunizations are reported to be thimerosal-free -- with the exception of the flu shot, which the CDC recommends for all pregnant women and for children 6 to 23 months old.

We've already questioned the logic of leaving thimerosal in flu shots -- even though it can be made without it, and a small supply of that formulation is available. But at least you could say: In response to public fears whether reasonable or not, the public health authorities took action.

Not so on the MMR, on either side of the Atlantic. Wakefield made what seemed like a relatively modest proposal, to separate the three components and space out the immunizations. After all, separate shots are available, and the measles vaccine was originally given that way.

Nothing doing. "Wouldn't it be better for children to have the vaccines separately?" asks a Q&A fact sheet from Health Scotland.

"No," the agency replies to itself. "Giving the vaccines separately would leave children exposed to measles or mumps or rubella for longer. These can be serious or even fatal diseases. It has been said that giving the three vaccines together overloads children's immune systems. This is not the case.

"Children's immune systems make excellent responses, naturally protecting them against these diseases. No country in the world recommends MMR be given as three separate vaccines. The World Health Organization advises against using separate vaccines because they would leave children at risk for no benefit."

Let's hope the authorities are right about the MMR. If they're not, the failure to take this relatively simple step will be hard to justify. If it turns out the MMR causes autism, said former chief scientific officer Fletcher, "the refusal by governments to evaluate the risks properly will make this one of the greatest scandals in medical history."

And not just in Great Britain.

*************************************************************

Questions to explore further this topic:

What is autism?

http://www.kidshealth.org/kid/.....utism.html
http://www.cdc.gov/ncbddd/autism/index.htm
http://www.exploringautism.org/autism/index.htm
http://www.autism-society.org/.....atisAutism
http://www.autism.org/overview.html
http://www.autism.org/adviceforparents.html
http://www.nimh.nih.gov/publicat/autism.cfm

How is autism diagnosed?

http://www.autism-society.org/.....mdiagnosis
http://www.ei-resource.org/autism.asp

How does autism manifest in social behavior?

http://www.autism.org/social.html
http://www.autism.org/sib.html
http://www.autism.org/tunvsn.html
http://www.autism.org/stim.html
http://www.autism.org/mind.html
http://www.autism.org/savant.html

How does an autistic child learn?

http://www.autism.org/styles.html

Videos on autism

http://www.autism-recoveredchildren.org/

What causes autism?

http://www.autism-society.org/.....tismcauses
http://news.bbc.co.uk/1/hi/health/1202660.stm
http://news.bbc.co.uk/1/hi/health/1870628.stm
http://www.emedicinehealth.com.....9544-2.asp
http://www.ont-autism.uoguelph.....uses.shtml
http://bmj.bmjjournals.com/cgi.....6/7382/173

What are vaccines?

http://www.immunizationinfo.or.....l.cfv?id=8

What are MMR vaccines?

http://www.cdc.gov/nip/publica.....is-mmr.pdf
http://hcd2.bupa.co.uk/fact_sheets/html/mmr.html
http://www.mmrthefacts.nhs.uk/.....ffects.php

What is the current opinion of the Center for Disease Control (US) regarding the realtionship between autism and MMR vaccines?

http://www.cdc.gov/nip/vacsafe/concerns/autism/

What do studies indicate regarding autism and vaccinations?

http://www.immunize.org/mmrautism/

What do the national academies say regarding the relationship between autism and thimerosal-containing vaccines?

http://www4.nationalacademies......enDocument

GAMES

http://www.niehs.nih.gov/kids/.....dread.html
http://www.niehs.nih.gov/kids/baylor/home.htm


Last edited by adedios on Sat Jan 27, 2007 4:48 pm; edited 2 times in total
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PostPosted: Sat Feb 18, 2006 4:06 pm    Post subject: autism Reply with quote

Dear Angel,
Thank you very much for posting this very informative article. This is a very timely piece of information due to the fact that cases of autism has been constantly on the rise not only in developed countries like the US and Canada, but even on our own country the Philippines. Posting regarding autism is a very welcome sign not only to us adults and parents, but also to the young and aspiring people of our beloved Paete. It has opened a door of new awareness to our youth and that with an eye opener like this, we become more understanding to the predicament of these special children, and not treat them as taboo and detriment to the community. Although handicapped as we may classify them, they are somehow gifted with so many ways which most people have overlooked.
I hope with your very unwavering dedication to pursue excellence in the education of our youth, this may draw awareness to the needs of our very own kababayans who have afflicted with this horrific disorder.
Again, thank you very much for your concern.
Jun and Luchie Adea
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PostPosted: Tue Feb 21, 2006 3:35 pm    Post subject: Experts Question Prevalent Stereotypes About Autism Reply with quote

Source: University of Wisconsin-Madison

Posted: February 21, 2006

Experts Question Prevalent Stereotypes About Autism

As theories about autism spread like wildfire in the media and the general public, a panel of autism experts will reflect on the validity of four widely held - and potentially inaccurate - assumptions about the developmental disability.

Drawing on the latest in autism research, a psychologist, an epidemiologist, a psychiatrist and a physician will critically assess widespread stereotypes about autism during a symposium entitled "Science of Autism," at the 2006 Annual Meeting of the American Association for the Advancement of Science (AAAS).

"With the surge in both scientists and society turning their attention toward autism, there comes responsibility," says Morton Gernsbacher, a Vilas Research Professor of psychology at the University of Wisconsin-Madison and the symposium's chair and organizer.

"It behooves us as scientists to distinguish uninformed stereotypes from scientific reality and to move beyond myths and misconceptions."

During her talk, Gernsbacher will cast doubt on the prevalent notion among autism researchers that autistic individuals lack a "theory of mind." The belief that autistic children lack a sense of both their own minds and those of others emerged about 20 years ago, becoming a seemingly undisputed tenet in the literature since then, says Gernsbacher.

When the psychologist began delving into the question, however, she found that scientists usually ascertain how well individuals perceive the mind with tasks that require a relatively sophisticated level of linguistic ability. Since a common diagnostic criteria for autism is the impairment of communication skills, Gernsbacher says it's not surprising that most autistic children don't fare well on such theory-of-mind tests.

"I think we as a society fall prey to a slippery slope when we begin talking about members of our society as not appreciating that they or others have a mind," says Gernsbacher. "An uncritical acceptance of the hypothesis that autistic individuals lack a theory of mind can seriously compromise how autistic individuals are treated in the workplace, the community and society in general."

The other panelists will similarly address other stereotypes about autism. Judith Grether, an environmental epidemiologist who works for the state of California, will contest the popular notion that North America is reeling from an autism epidemic. Grether will make the point that a higher number of reported autism cases - due to looser diagnostic criteria - doesn't necessarily translate into an actual rise in the overall number of cases.

Panelist Irving Gottesman, a psychiatrist at the University of Minnesota, will similarly dispute the idea circulating among some researchers that childhood vaccines potentially cause autism. Recent large-scale literature reviews, he says, fail to support that link.

Finally, Laurent Mottron, an autism researcher and physician at Montreal's Hopital Riviere des prairies, will discuss the common idea that most autistic people are cognitively impaired. Mottron will assert that the numbers of cognitively impaired autistic individuals have been over-estimated - a fact that has important implications for the kind of therapies that autistic individuals receive.

Ultimately, Gernsbacher hopes that events such as today's AAAS symposium will help to set the record straight. "I would like scientists to become more skeptical of the stereotypes that flourish about autism and members of society to become more skeptical of the myths that are circulated."
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PostPosted: Tue Mar 21, 2006 11:54 am    Post subject: Role of evolutionary genomics in the development of autism Reply with quote

Blackwell Publishing Ltd.
21 March 2006

The role of evolutionary genomics in the development of autism

Scientists at the London School of Economics, UK and Simon Fraser University, Canada have described the first hypothesis grounded in evolutionary genomics explaining the development of autism.
In an article to be published in a forthcoming issue of Journal of Evolutionary Biology, Dr Christopher Badcock and Professor Bernard Crespi explore the 'imprinted brain hypothesis' to explain the cause and effect of autism and autistic syndromes such as Asperger's syndrome, highlighted by the book The Curious Incident of the Dog in the Night-Time, which involves selective disruption of social behaviour that makes individuals more self-focussed whilst enhancing skills related to mechanistic cognition.

The 'imprinted brain hypothesis' suggests that competition between maternally and paternally expressed genes leads to conflicts within the autistic individual which could result in an imbalance in the brain's development. This is supported by the fact that there is known to be a strong genomic imprinting component to the genetic and developmental mechanisms of autism and autistic syndromes.

Professor Bernard Crespi from Simon Fraser University, Canada explains: "The imprinted brain hypothesis underscores the viewpoint that the autism spectrum represents human cognitive diversity rather than simply disorder or disability. Indeed, individuals at the highest-functioning end of this spectrum may have driven the development of science, engineering and the arts through mechanistic brilliance coupled with perseverant obsession."

The core behavioural features of autism such as self-focussed behaviour, altered social interactions and language and enhanced spatial and mechanistic cognition and abilities – as well as the degree to which the brain functions and structures are altered – also supports this hypothesis.


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Read or download the article for FREE: http://www.blackwell-synergy.c.....06.01091.x
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PostPosted: Wed Apr 26, 2006 6:47 pm    Post subject: Autism Has High Costs to U.S. Society Reply with quote

Autism Has High Costs to U.S. Society
Harvard School of Public Health

$35 Billion Per Year to Care for Those Affected

For immediate release: Tuesday, April 25, 2006


Boston, MA – It can cost about $3.2 million to take care of an autistic person over his or her lifetime. Caring for all people with autism over their lifetimes costs an estimated $35 billion per year. Those figures are part of the findings in the first study to comprehensively survey and document the costs of autism to U.S. society. Michael Ganz, Assistant Professor of Society, Human Development, and Health at Harvard School of Public Health, authored the study, which appears in a chapter titled, “The Costs of Autism,” in the newly published book, Understanding Autism: From Basic Neuroscience to Treatment (CRC Press, 2006). Ganz hopes his research will help policymakers allocate scarce resources to its treatment and prevention as well as provide a useful reference for policymakers and advocates to help them more fully understand the financial impact of autism on U.S. society.

Ganz’s analysis of the costs includes direct and indirect medical costs associated with the disorder. But he believes the $35 billion annual societal cost for caring for and treating people with autism likely underestimates the true costs because there are a number of other services that are used to support individuals with autism, such as alternative therapies and other family out-of-pocket expenses, that are difficult to measure. In addition, Ganz believes that the level of cost could be higher if there were more useful and widespread treatment options available. “Given that the federal autism research budget has been historically less than $100 million per year and given that research budgets for other conditions with similar numbers of affected individuals are sometimes orders of magnitude higher, I hope that my research can help focus more attention on directing more resources toward finding prevention and treatment options for autism,” Ganz said. (For comparison purposes, he notes estimated annual costs of other conditions, including Alzheimer’s disease ($91 billion); mental retardation ($51 billion); anxiety ($47 billion); and schizophrenia ($33 billion).)

Autism is a pervasive developmental disorder (PDD) that involves severe deficits in a person’s ability to communicate and interact with others. Children with autism often have trouble using their imagination, have a limited range of interests, and may show repetitive patterns of behavior or body movements. The disorder is often associated with some degree of mental retardation. Autism is the most prevalent PDD and the most common of all serious childhood disorders. It affects an estimated 1.5 million Americans and is increasing at a rate of 10-17 percent each year. It is four times more common in boys than in girls. The exact cause of autism is not known and there is currently no cure for the disorder.

Ganz broke down the total costs of autism into two components: direct and indirect costs. Direct costs include direct medical costs, such as physician and outpatient services, prescription medication, and behavioral therapies (estimated to cost, on average, more than $29,000 per person per year) and direct non-medical costs, such as special education, camps, and child care (estimated to annually cost more than $38,000 for those with lower levels of disability and more than $43,000 for those with higher levels).

Indirect costs equal the value of lost productivity resulting from a person having autism, for example, the difference in potential income between someone with autism and someone without. It also captures the value of lost productivity for an autistic person’s parents. Examples include loss of income due to reduced work hours or not working altogether. Ganz estimates that annual indirect costs for autistic individuals and their parents range from more than $39,000 to nearly $130,000.

Since people with autism receive services from a wide variety of sources, Ganz believes future research efforts should focus on identifying those sources and linking those costs to non-financial data about the burdens of autism. These complementary sources of data can provide a richer picture that will be useful to policymakers in the future to assist them in devoting resources to address the financial and non-financial effects of autism.
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PostPosted: Sat Sep 09, 2006 11:00 pm    Post subject: NIH autism trials Reply with quote

NIH/National Institute of Mental Health
7 September 2006

New National Institute of Mental Health research program launches autism trials

The National Institute of Mental Health (NIMH), part of the National Institutes of Health (NIH), has launched three major clinical studies on autism at its research program on the NIH campus in Bethesda, Maryland. These studies are the first products of a new, integrated focus on autism generated in response to reported increases in autism prevalence and valid opportunities for progress. Initial studies will define the characteristics of different subtypes of autism spectrum disorders (ASD) and explore possible new treatments.

One study will define differences--both biological and behavioral--in autistic children with diverse developmental histories. Increasingly, scientists are considering the likelihood of "autisms," that is, multiple disorders that comprise autism. These studies seek to better define the subtypes within autism. Children with regressive autism appear to develop normal language and social skills but then lose these with the onset of autism before age 3. Non-regressive autism, the more common form of the disorder, begins early in life, possibly before birth, with evidence of subtle deficits throughout development. Children with these two forms of autism will be compared with those who have other developmental disorders, including various forms of developmental delay, as well as children with typical development. In addition, researchers will study a subset of the children in this study to investigate environmental factors that may trigger symptoms of autism.

In another study, NIMH researchers will examine the use of the antibiotic minocycline to measure its usefulness in treating regressive autism. Past research suggests that autism may be linked with changes in the immune response that cause inflammation in the brain. Minocycline has known anti-inflammatory effects and has been shown to be helpful in other brain disorders such as Huntington's disease.

The third study seeks to address the widespread but unproven theory that autism may be treated successfully by chelation therapy, which seeks to remove heavy metals from the blood. Chelation is more commonly used to treat lead toxicity, but currently, many families seek the treatment to try to remove mercury and other metals from their autistic children's blood. This practice is based on the belief that many cases of autism were caused by exposure to thimerosol, a mercury-based preservative previously used in childhood vaccines.

According to the Food and Drug Administration, since 2001, all vaccines recommended for children 6 years of age and younger have contained either no thimerosal or only trace amounts, with the exception of inactivated flu vaccine, which is manufactured in formulations both containing and free of thimerosal. Thimerosal-free influenza vaccine licensed for use in children six to 23 months of age is available in limited supply. Additionally, new pediatric vaccines that have received licensure do not contain thimerosal.

Regardless, many families continue to turn to chelation as a therapy for autism. NIMH will conduct a controlled study to test the efficacy and safety of chelation for children with autism spectrum disorders. However, the chelation also can remove essential mineral nutrients, such as calcium, iron, and zinc.

"Because chelation therapy is not specific for mercury alone, it is important to conduct a systematic, controlled trial to determine whether or not chelation therapy is beneficial or potentially harmful to children with autism," says Susan Swedo, M.D., who leads the branch on pediatric behavioral research in the NIMH Division of Intramural Research Programs, where the autism studies are being conducted.

Autism is a mental disorder that arises in early childhood and is characterized by delays in development of social and communication skills, as well as restricted interests and repetitive behaviors. Autism has a variety of presentations, and may represent several different diseases. It is part of a larger group of disorders, often referred to as autism spectrum disorders or ASDs, that also includes Asperger's syndrome and pervasive developmental disorder. Developing better screening or diagnostic tools and finding effective treatments depend on gaining more information about these various disorders and subtypes, which currently are reported to affect 2–6 out of every 1000 children.

###
The NIMH Intramural Research Program is committed to conducting reliable and unbiased clinical research to improve human health. Each of the proposed studies has undergone a rigorous review process to ensure the quality and safety of the research. To learn more about this process or to find general information on clinical trials, please visit http://ClinicalTrials.gov.

Approximately 500 scientists work in the NIMH Division of Intramural Research Programs located on the main NIH campus in Bethesda, Maryland. Intramural scientists range from molecular biologists working in laboratories to clinical researchers working with patients at the NIH Clinical Center. Through its Division of Extramural Activities, NIMH supports more than 3,500 research grants and contracts to researchers at universities and other institutions across the country and overseas. On average, over 80 percent of the NIMH research budget is allotted to extramural research. To learn more about the different research divisions at NIMH, please visit http://www.nimh.nih.gov/about/compon.cfm

The National Institutes of Health (NIH) -- The Nation's Medical Research Agency -- includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.
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PostPosted: Tue Oct 03, 2006 12:21 pm    Post subject: Ron Adea's website Reply with quote

Ron Adea's website

Please click on the link below:
http://ronadea.com/VideoFiles/welcome.swf

and visit my new homepage at:
http://ronadea.com
_________________
Ron Adea
Father: Romeo Adea, Jr.
Mother: Luchie Carolino Adea
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PostPosted: Tue Jan 16, 2007 10:18 pm    Post subject: Between 250,000 and 300,000 Filipinos afflicted Reply with quote

Between 250,000 and 300,000 Filipinos afflicted

By DJ Yap
Inquirer
Last updated 07:44am (Mla time) 01/17/2007

THE AUTISM Society of the Philippines (ASP) estimates that between 250,000 and 300,000 Filipinos today are afflicted with autism.

But of this figure, only 5 percent have been diagnosed, and only 2 percent have received medical attention, according to the nongovernment organization.

The rest of them go untreated, often becoming the subjects of ridicule or superstition. “In far-flung areas, people refer to autistic children as ‘sinto-sinto,’ or ‘nanuno sa punso,’” says ASP executive director Ranilo Sorongon.

For some, it’s plain ignorance or denial, but for most people, it’s about the expense.

For the full article:

http://newsinfo.inquirer.net/i.....e_id=43904
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PostPosted: Tue Jan 16, 2007 10:20 pm    Post subject: Autism has many faces, misconceptions Reply with quote

Autism has many faces, misconceptions


By Cyril Bonabente
Inquirer
Last updated 07:44am (Mla time) 01/17/2007


THERE ARE many misconceptions about autism. Some think all autistic individuals are mentally retarded, while others believe autistic people are geniuses who just happen to be oblivious to the people around them.

But autism is not so simple, as no two autistic persons are alike.

In fact, scientists have discovered that classic autism or autistic disorder is just one of five pervasive developmental disorders or PDDs (also known as autism spectrum disorders) that are all characterized by impairment in social interaction, verbal and nonverbal communication, and play or behavior.

Scientists are not yet certain about the cause of PDDs, but some studies show that genes can be a factor. There is no cure, but symptoms can be remedied by therapies and behavioral interventions.

The US Department of Health and Human Services estimates that out of 1,000 children, two to six suffer from a PDD.

For the full article:

http://newsinfo.inquirer.net/i.....e_id=43903
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PostPosted: Tue Jan 16, 2007 10:22 pm    Post subject: Autistic artist has photographic memory Reply with quote

Autistic artist has photographic memory

By Jocelyn Uy
Inquirer
Last updated 07:44am (Mla time) 01/17/2007


(First of a series)

GABBY ATIENZA can draw a portrait in less than five minutes. He has a photographic memory, but he dreads attending parties and finds falling in love and telling jokes perplexing.

Even as a boy, Atienza knew that something was different about him. He started to understand what set him apart from others only five years ago after doctors diagnosed him with Asperger’s Syndrome (AS), a form of “high-functioning autism.”

The discovery was made after Atienza sought for the second time in his life help from a specialist in 2001. He had his first treatment after dropping out of the University of the Philippines in Los Baños, Laguna, in 1986 due to “complicated emotional stress.”

For the full article:

http://newsinfo.inquirer.net/i.....e_id=43905
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PostPosted: Wed Jan 31, 2007 8:01 am    Post subject: Media coverage of autism differs dramatically Reply with quote

Stanford University Medical Center
30 January 2007

Media coverage of autism differs dramatically

STANFORD, Calif. ­ Sifting through the pages of newspapers, most people reading stories about autism would think scientists are primarily grappling with understanding how environmental factors, such as childhood vaccines, might contribute to the condition. But the truth is quite different. The efforts of the scientific community to explore autism lie predominantly in brain and behavior research.

This disconnect between the scientific community and the popular media is starkly laid out in a study published in the February issue of Nature Reviews Neuroscience by researchers at the Stanford University School of Medicine.

The researchers found that while 41 percent of research funding and published scientific papers on autism dealt with brain and behavior research, only 11 percent of newspaper stories in the United States, United Kingdom and Canada dealt with those issues. Instead, 48 percent of the media coverage dealt with environmental causes of autism, particularly the childhood MMR vaccine for measles, mumps and rubella that was once linked with autism in a widely refuted study. Only 13 percent of published research was about environmental triggers of autism.

"What was very interesting is that media frequently reported being very skeptical of the MMR evidence, as was scientific literature," said Judy Illes, PhD, associate professor of pediatrics and senior author of the paper. The media stories accurately reflected scientific thinking, but didn't reflect the breadth of scientific research including the genetics, treatment and epidemiology of autism.

Illes and her co-authors ­ --Joachim Hallmayer, PhD, associate professor of psychiatry and behavioral sciences, and research associate Jennifer Singh ­-- conducted the study because they were interested in exploring how people react to new scientific discoveries. In some cases, these discoveries can lead to large-scale changes in the way people think or behave. Likewise, shifts in public values can cause broad changes in the direction of scientific thinking. The group dubbed this behavior "flocking."

"It characterizes the way people, scientists and organizations flock to and from certain ideas, tools and, like birds, goals and destinations," said Illes, who directs Stanford's Program in Neuroethics. In some cases, this flocking may be caused by the way the media portrays an issue, the researchers say.

One example of flocking came from a 1993 hypothesis that listening to classical music could improve cognitive skills in infants. This finding resulted in a flocking effect by toy manufacturers and parents, and even sparked 1998 legislation in Georgia to distribute classical music CDs to all expecting parents. All this despite the scientific community's rejection of the concept. Other examples of flocking include the rush to lobotomies during the late 19th century despite adverse effects on personality and lack of widespread scientific support.

For a current look at the differences between science and the public perception of science, the researchers focused on autism. The Centers for Disease Control estimated that one in every 250 babies born in 2005 would develop the disease, which is characterized by impaired social, communication and imaginative skills. This disease is one with complex, poorly understood causes, and is an active area of research in neurobiology in part because of the increased incidence in recent decades. It is also a disease that has already seen flocking behavior on the part of parents who feared giving the MMR vaccine after the disputed 1998 paper suggested a link between the vaccine and autism.

The Stanford team divided autism research into six categories: brain and behavior, genetic, environment, treatment, epidemiology and other. Singh then categorized research spending, published research papers and stories about autism in the media. What she found was a sharp disconnect between the conversation scientists were having via published papers, and what the public learned about autism through the media.

Autism researchers were focused primarily on topics relating to brain and behavior, genetics and treatment options. The public, on the other hand, primarily heard about environmental causes of autism, most prominently the much-maligned childhood MMR vaccine. Illes said the study, which was funded by the National Institutes of Health, highlights the need for scientists to talk with the public about their work. She cited previous research showing that the media tends to report research that can result in action on the part of readers­lists of do's and don'ts to keep kids healthy, for example.

Although genetics research doesn't fall into that easy formula, Hallmayer, who studies the genetic causes of autism, said parents whose children have the disease would benefit from greater insights into the scientific process. "I think a better understanding of what we consider to be evidence and not evidence would help the public understand what they can expect out of scientific research," he said. At the same time, Hallmayer said the public's interest in the environmental causes of autism is being heard. The new NIH funding roadmap includes a push to better understand what environmental factors may be responsible for the rise in autism rates.

The ability of the public to shift science policy is part of the conversation Illes hopes to encourage. "If we could get people from both groups to the table rather than relying on the media as an intermediary, we could break down some boundaries of understanding and move forward," she said.


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Stanford University Medical Center integrates research, medical education and patient care at its three institutions ­ Stanford University School of Medicine, Stanford Hospital & Clinics and Lucile Packard Children's Hospital at Stanford. For more information, please visit the Web site of the medical center's Office of Communication & Public Affairs at http://mednews.stanford.edu
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PostPosted: Mon Feb 19, 2007 9:57 am    Post subject: Largest-ever search for autism genes reveals new clues Reply with quote

NIH/National Institute of Mental Health
18 February 2007

Largest-ever search for autism genes reveals new clues

The largest search for autism genes to date, funded in part by the National Institutes of Health (NIH), has implicated components of the brain's glutamate chemical messenger system and a previously overlooked site on chromosome 11. Based on 1,168 families with at least two affected members, the genome scan adds to evidence that tiny, rare variations in genes may heighten risk for autism spectrum disorders (ASD)*.

The study is the first to emerge from the Autism Genome Project (AGP) Consortium, a public-private collaboration involving more than 120 scientists and 50 institutions in l9 countries. Their report is published online in the February 18, 2007 issue of Nature Genetics.

With NIH support, the AGP is pursuing studies to identify specific genes and gene variants that contribute to vulnerability to autism. These include explorations of interactions of genes with other genes and with environmental factors, and laboratory research aimed at understanding how candidate susceptibility genes might work in the brain to produce the disorders.

"This is the most ambitious effort yet to find the locations of genes that may confer vulnerability to autism," said NIH Director Elias A. Zerhouni, M.D. "The AGP is revealing clues that will likely influence the direction of autism research for years to come."

"Although we know autism is highly heritable, complex gene interactions and submicroscopic anomalies create a din of statistical noise that drowns out detection of signals from linked sites in the genome," explained Dr. Bernie Devlin, University of Pittsburgh, who served as a corresponding author on the project along with the University of Toronto's Dr. Stephen Scherer. "To amplify these signals, we brought to bear gene chip technology with a huge sample, and also screened for these fine-level anomalies, factoring them into the analysis."

Clues emerged adding to evidence that implicates components of the brain's glutamate neurotransmitter system in autism. Glutamate increases neuronal activity and plays an important role in wiring up the brain during early development. Since autism likely stems from faulty wiring, a genetic blueprint gone awry in this pivotal neurotransmitter system is a prime suspect. Some key genes associated with the glutamate system are located in chromosome regions previously associated with autism, note the researchers.

Previous studies have also linked abnormal glutamate functioning to disorders such as Fragile X syndrome and tuberous sclerosis, which share some symptoms with autism. It's not unusual for individuals with either syndrome to be diagnosed with autism.

Among the new clues is stronger evidence for an association between autism and sites of genes for neurexins, molecules that build glutamate synapses – the connection machinery by which brain cells communicate.

A site on chromosome 11 most strongly linked to autism in this study harbors genes for proteins that shuttle glutamate across the synapse. Although detected previously, the linkage signal at this site was regarded as less important until now.

Submicroscopic anomalies – tiny deletions, or the doubling, tripling or even multiplying of stretches of genetic material – are relatively common in the human genome and aren't necessarily harmful. However, recent evidence suggests that these anomalies may contribute to risk for – or rarely even cause – autism if they affect certain sites associated with the disorder. The AGP researchers found a number of these variations in such suspect chromosomal locations in affected individuals, including deletion of a neurexin gene.

These anomalies can also make it more difficult to detect the genes that more commonly account for autism risk, say the researchers. Since each major autism candidate gene likely contributes to risk for a relatively small percentage of families, its linkage signal can easily be lost in the statistical noise generated by those of the anomalies – just as a high level of static can drown out a weak radio signal.

To amplify the power of possible linkages detected, the researchers analyzed many subsets of data, variously excluding from the sample factors like the submicroscopic anomalies, female sex, and ethnicity. These analyses unmasked several suggestive linkages that would otherwise have eluded detection.

Researchers last Fall reported (http://www.nimh.nih.gov/press/autismmetgene.cfm ) discovery of a gene version linked to autism and how it likely works at the molecular level to increase risk. The AGP researchers propose that multiple such gene variants, perhaps interacting with each other and with the tiny anomalies, contribute to risk. As more such genes are identified, studies of how they work in the brain – in mice and other model systems – will help to sort out the genetic and proposed environmental influences on autism spectrum disorders, say researchers.

A second phase of AGP studies will follow up on leads suggested in this first phase.


###
Gene typing and data analysis was funded by Autism Speaks (formerly NAAR). NIH Institutes, led by NIMH, funded the recruitment and assessment of U.S. families.

The AGP Consortium is comprised of four existing consortia: Autism Genetics Cooperative (AGC), Autism Genetic Resource Exchange (AGRE) Consortium, Collaborative Programs of Excellence (CPEA), International Molecular Genetic Study of Autism Consortium (IMGSAC). Dr. Andy Shih of Autism Speaks served as scientific manager of the project.

Principal investigators of NIH-funded components of the study were: Joseph Buxbaum, Susan Folstein, Neil Risch, James Sutcliffe, Daniel Geschwind, Bernie Devlin, Edwin Cook, Catherine Lord, NIMH; Joachim Hallmayer, Margaret Pericak-Vance, James Sutcliffe, Thomas Wassink, NINDS; Geraldine Dawson, Gerard Schellenberg, William McMahon, Fred Volkmar, NICHD. The research was also supported by General Clinical Research Centers at Yale University and the University of Utah, both funded by the NCRR.

Information about Autism Spectrum Disorders: http://www.nimh.nih.gov/health.....smmenu.cfm

The National Institute of Mental Health (NIMH) mission is to reduce the burden of mental and behavioral disorders through research on mind, brain, and behavior. More information is available at the NIMH website. The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Web site at http://www.nichd.nih.gov/

The National Institute of Neurological Disorders and Stroke is the nation's primary supporter of research on the brain and nervous system. More information about stroke and other neurological disorders can be found on the NINDS web site, www.ninds.nih.gov

The National Center for Research Resources (NCRR) provides laboratory scientists and clinical researchers with environments and tools that they can use to prevent, detect, and treat a wide range of diseases. This support enables discoveries that begin at the molecular and cellular level, move to animal-based studies, and then are translated to patient-oriented clinical research, resulting in cures and treatments for both common and rare diseases. NCRR connects researchers with patients and communities across the nation to bring the power of shared resources and research to improve human health. For more information, visit www.ncrr.nih.gov

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov
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PostPosted: Wed Mar 14, 2007 7:07 am    Post subject: Autism gene identified by researchers at Yale working with a Reply with quote

Yale University
13 March 2007

Autism gene identified by researchers at Yale working with a global research consortium

Yale School of Medicine autism experts Fred Volkmar, M.D. and Ami Klin are part of a global research consortium from 19 countries to identify a gene and a region of a chromosome that may lead to autism in children.

The findings are published online today in Nature Genetics and also will be published in the journal’s March print edition. They are based on the largest-ever autism genome scan. Over 120 scientists from over 50 institutions who formed the Autism Genome Project (AGP) performed the research. The AGP began in 2002 when researchers from around the world decided to collaborate and share their samples, data and expertise to aid in identifying autism susceptibility genes.

Funded by Autism Speaks, a national non-profit dedicated to increasing awareness of autism and raising money to research the disorder, and the National Institutes of Health, these are the preliminary findings from the AGP’s first phase.

The consortium used "gene chip" technology to look for genetic similarities in autistic individuals culled from almost 1,200 families. They also scanned the DNA to search for copy number variations, which are submicroscopic insertions and deletions of genetic material that scientists believe may be linked to autism and other diseases. The researchers found neurexin 1, part of a family of genes that plays a role with the neurotransmitter glutamate, which has been previously linked to autism. They also found a gene on chromosome 11 that may be linked to autism susceptibility. That gene has not yet been pinpointed.

Researchers speculate that there may be five or six major genes and as many as 30 other genes involved in autism. If a child has more of these genes, there is a higher chance of being born with autism or a more severe form of the disease.

Autism is a complex brain disorder that inhibits a person’s ability to communicate and develop social relationships, and is often accompanied by extreme behavioral challenges. Autism Spectrum Disorders are diagnosed in one in 150 children in the United States, affecting four times as many boys as girls. The diagnosis of autism has increased tenfold in the last decade.

Phase Two of the Autism Genome Project was also announced to continue the effort to discover the genes that cause the disorder. This second phase represents a $14.5 million, three-year investment by Autism Speaks, the British Medical Research Council, the Health Research Board of Ireland, Genome Canada and its partners, Canadian Institutes for Health Research, Southwest Autism Research and Resource Center, and the Hilibrand Foundation.
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PostPosted: Thu Mar 29, 2007 9:25 am    Post subject: 'The eyes have it' — autism research yields surprising resul Reply with quote

'The eyes have it' — autism research yields surprising results
The University of Nottingham
PA51/07 — March 26 2007

Autistic children are able to interpret the mental state of others by looking at their eyes, contrary to previous research, a new University of Nottingham study has found.

In findings that contradict previous studies, psychologists found that autistic children can 'read' a stranger's mental state based on that person's eyes. Autistic children have long been thought to be poor at interpreting people's mental states based on facial expressions, especially expressions around the eyes.

Some researchers believe that this lack of ability could be central to the social problems experienced by autistic children and adults.

But the latest findings cast doubt on this hypothesis. A study at The University of Nottingham found that autistic children were able to interpret mental states when looking at animated facial expressions. The findings also suggest that the use of moving images, rather than conventional still pictures, gives a much more accurate measure of the abilities of autistic children.

Researchers hope that by increasing understanding of autism, their findings may ultimately help in the teaching and treatment of people with the condition.

Published in the latest issue of the journal Child Development, the study was led by Dr Elisa Back. Her co-researchers were Professor Peter Mitchell and Dr Danielle Ropar of the School of Psychology at The University of Nottingham.

Dr Back said: “Previous findings show that children and adolescents with autism may have difficulty reading mental states from facial expressions but our results suggest that this is not due to an inability to interpret information from the eyes.

“Surprisingly, autistic children seemed particularly reliant on the eyes and also the mouth when making mentalistic inferences.

“The conclusions of previous research are largely based on methods that present static photographs to participants. Our study indicates that a more accurate measure of the abilities of those with autism can be obtained through the use of sophisticated digital imaging techniques with animated facial expressions.”

The study compared two groups of autistic children, one group aged 10–14 and one aged 11–15, with two control groups of non-autistic children. They underwent a series of tests to see whether they could gauge the mental state of a stranger by looking at different parts of the face.

Researchers conducted two experiments in which the participants looked at a series of facial expressions on a laptop screen. In the facial images used, the eyes and mouth were either 'freeze-framed' in a neutral expression, or animated and expressive. By showing a sequence of different combinations, they were able to gauge which aspects of the face were used by the autistic children to 'read' someone's mental state — and how successful they were.

In the second experiment, the 18 autistic children involved were as successful as non-autistic children in interpreting mental states, whether they saw the eyes in isolation or in the context of the whole face. This indicates that autistic children do, in fact, make use of information from the eyes — a finding that contradicts prior studies.

An estimated 588,000 people have autism in the UK, according to the National Autistic Society. A mental health survey by the Office for National Statistics found the prevalence of children and young people anywhere on the autistic spectrum is 0.9 per cent — almost one in every 100.

— Ends —

Notes to editors: The University of Nottingham is Britain's University of the Year (The Times Higher Awards 2006). It undertakes world-changing research, provides innovative teaching and a student experience of the highest quality. Ranked by Newsweek in the world's Top 75 universities, its academics have won two Nobel Prizes since 2003. The University is an international institution with campuses in the United Kingdom, Malaysia and China.
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PostPosted: Mon Apr 02, 2007 8:25 am    Post subject: Kennedy Krieger Institute launches first national online aut Reply with quote

Kennedy Krieger Institute
2 April 2007

Kennedy Krieger Institute launches first national online autism registry

The Interactive Autism Network to accelerate autism research by linking researchers and families nationwide
(Baltimore, MD)—Kennedy Krieger Institute today announced the launch of the Interactive Autism Network (IAN) – the first national online autism registry – at www.IANproject.org. Parents are filled with questions about autism, and, unfortunately, researchers are still struggling with many of the same questions. IAN brings these two groups together in a way that’s never been done before, through an online registry, to find answers.

Designed to drive autism research forward more quickly and efficiently, IAN will facilitate the exploration of causes, treatments and the search for a possible cure to this puzzling disorder. The Kennedy Krieger project is spearheaded by the husband and wife research team of Drs. Paul and Kiely Law, physicians by training and parents of a 13-year-old son with autism. The IAN project will link researchers to parents, the people who know the most about their child, in two important ways:

Data Collection - Parents of children with autism will be engaged online, providing valuable genealogical, environmental and treatment data without having to leave their home or office. By the end of the year, IAN’s goal is to have the largest pool of family-provided data on autism, enabling researchers to explore hypotheses and search for parallels among affected children in ways that have not been previously possible.

Research Recruitment - IAN will match parents of children with autism with local and national IRB-approved research studies for which they are uniquely qualified. Each year, many autism studies are not completed because scientists cannot find enough qualified participants in a timely manner. By facilitating the process of research recruitment, IAN aims to remove this stumbling block.

“Parents are looking for a more direct way to get involved and speed up autism research, hoping for effective treatments and eventually a cure,” said Dr. Paul Law, Director, Interactive Autism Network at the Kennedy Krieger Institute in Baltimore, Maryland. “IAN will fill that research gap for parents and researchers, transforming the face of autism research as we know it.”

Among the families who registered during the IAN pilot phase, 80% had never participated in any autism research. The IAN project will utilize the power and reach of the Internet, which is widely available regardless of income, education, race and ethnicity, to significantly increase family participation. In the long-term, this new research approach may impact not only autism research, but how other disease states are studied as well.

To protect participant confidentiality, the data collection and management processes throughout the site are carefully designed to ensure privacy and maintain the highest level of medical and scientific research ethics.

In addition to collecting data and recruiting participants for research, the IAN project hopes to engage the entire autism community – from parents to policy makers to the media – in an online meeting place where they can become more knowledgeable consumers of autism research. This arm of the IAN project provides consumer-friendly, evidence-based information about autism, explains the value of research in general, and gives updates on current and future research studies.

“By linking parents and researchers, the IAN project aims to organize and mobilize autism research efforts in hopes of achieving results similar to the leukemia community,” said Dr. Gary Goldstein, President and CEO of the Kennedy Krieger Institute. “Thirty years ago, the majority of children with leukemia died. Today, the majority survive because increased participation by a very organized research community led to discoveries of new and better treatments.”

IAN is funded by a grant from Autism Speaks, a non-profit organization dedicated to increasing awareness about the growing autism health crisis and raising funds for critical autism research.

"We are proud to be funding this important initiative and excited about its potential to not only collect critical data, but also connect families and researchers nationwide in order to speed the search for the causes, better treatments and a cure for autism," said Mark Roithmayr, president of Autism Speaks.


###
About Autism

Autism spectrum disorders (ASD) is the nation’s fastest growing developmental disorder, with current incidence rates estimated at 1 in 150 children. This year more children will be diagnosed with autism than AIDS, diabetes and cancer combined, yet profound gaps remain in our understanding of both the causes and cures of the disorder. Continued research and education about developmental disruptions in individuals with ASD is crucial, as early detection and intervention can lead to improved outcomes in individuals with ASD.

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 12,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit www.kennedykrieger.org.

About Autism Speaks

Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention, treatments and cure for autism, and to advocating for the needs of affected families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman and Executive Officer, General Electric, and Chairman and CEO, NBC Universal. Autism Speaks has merged with both the National Alliance for Autism Research (NAAR) and Cure Autism Now (CAN), bringing together the nation's three leading autism advocacy organizations. To learn more about Autism Speaks, please visit www.autismspeaks.org.
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PostPosted: Fri May 04, 2007 9:26 am    Post subject: No link between mercury and autism: study Reply with quote

No link between mercury and autism: study
Thu May 3, 5:01 PM ET

MONTREAL (AFP) - Mercury levels have no relationship to the development of autism, a developmental disorder whose cause remains unclear, according to a Canadian study published Thursday.

"In recent years, hypotheses have been raised concerning a possible relationship between mercury exposure and autism," said Eric Fombonne, head researcher and director of pediatric psychiatry at the Montreal Children's Hospital.

"Specifically, the concerns have been related to childhood thimerosal-containing vaccines, dental amalgams, and methylmercury in food," he said in a statement.

For the full article:

http://news.yahoo.com/s/afp/20.....0503210131
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PostPosted: Sun May 06, 2007 5:26 am    Post subject: A frown or a smile? Children with autism can't discern Reply with quote

University of California - Los Angeles
8 May 2007

A frown or a smile? Children with autism can't discern

Area of brain that plays a role in evaluating emotions shows no activity
When we have a conversation with someone, we not only hear what they say, we see what they say. Eyes can smolder or twinkle. Gazes can be direct or shifty. “Reading” these facial expressions gives context and meaning to the words we hear.

In a report to be presented May 5 at the International Meeting for Autism Research in Seatlle, researchers from UCLA will show that children with autism can’t do this. They hear and they see, of course, but the areas of the brain that normally respond to such visual cues simply do not respond.

Led by Mari Davies, a UCLA graduate student in psychology, and Susan Bookheimer, a professor of psychiatry and biobehavioral sciences at the Semel Institute for Neuroscience and Human Behavior at UCLA, the research compared brain activity between 16 typically developing children and 16 high-functioning children with autism. While undergoing functional magnetic resonance imaging (fMRI), both groups were shown a series of faces depicting angry, fearful, happy and neutral expressions. In half the faces, the eyes were averted; with the other half, the faces stared back at the children.

With the typically developing group, the researchers found significant differences in activity in a part of the brain called the ventrolateral prefrontal cortex (VLPFC), which is known to play a role in evaluating emotions. While these children looked at the direct-gaze faces, the VLPFC became active; with the averted-gaze pictures, it quieted down. In contrast, the autistic children showed no activity in this region of the brain whether they were looking at faces with a direct or an indirect gaze.

“This part of the brain helps us discern the meaning and significance of what another person is thinking,” Davies said. “When responding to someone looking straight at you, as compared to someone who’s looking away, the brain discerns a difference. When the other person looks away, the brain quiets down.”

For instance, with angry expressions, the brain may quiet down, because when a negative gaze is averted, it is no longer seen as a direct threat. “Gaze has a huge impact on our brains because it conveys part of the meaning of that expression to the individual. It cues the individual to what is significant,” Davies said.

While the results show the key role of eye gaze in signaling communicative intent, it also shows that autistic children, even when gazing directly into someone’s eyes, don’t recognize visual cues and don’t process that information. That may be why children diagnosed with autism have varying degrees of impairment in communication skills and social interactions and display restricted, repetitive and stereotyped patterns of behavior.

“They don’t pick up what’s going on — they miss the nuances, the body language and facial expressions and sometimes miss the big picture and instead focus on minor, less socially relevant details,” Davies said. “That, in turn, affects interpersonal bonds.”


###
The research was funded by the National Institute of Child Health and Human Development. Other study authors include Mirella Dapretto, Marian Sigman and Leigh Sepeta.

The Semel Institute for Neuroscience and Human Behavior at UCLA is an interdisciplinary research and education institute devoted to the understanding of complex human behavior, including the genetic, biological, behavioral and sociocultural underpinnings of normal behavior and the causes and consequences of neuropsychiatric disorders. In addition to conducting fundamental research, the institute faculty seeks to develop effective treatments for neurological and psychiatric disorders, improve access to mental health services, and shape national health policy regarding neuropsychiatric disorders.
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PostPosted: Wed Jun 27, 2007 12:17 pm    Post subject: MIT locates key enzyme for reversing retardation in mice Reply with quote

MIT locates key enzyme for reversing retardation in mice
'Elegant genetic manipulation' inhibits Fragile X symptoms
Deborah Halber, News Office Correspondent, MIT
June 25, 2007


Researchers at the Picower Institute for Learning and Memory at MIT have, for the first time, reversed symptoms of mental retardation and autism in mice.

The work will be reported in the online early edition of the Proceedings of the National Academy of Sciences the week of June 25-29.

The mice were genetically manipulated to model Fragile X Syndrome (FXS), the leading inherited cause of mental retardation and the most common genetic cause of autism. The condition, tied to a mutated X chromosome gene called fragile X mental retardation 1 (FMR1) gene, causes mild learning disabilities to severe autism.

According to the Centers for Disease Control, FXS affects one in 4,000 males and one in 6,000 females of all races and ethnic groups. The prevalence of autism ranges from one in 500 to one in 166 children. There is no effective treatment for FXS and other types of autism.

"Our study suggests that inhibiting a certain enzyme in the brain could be an effective therapy for countering the debilitating symptoms of FXS in children, and possibly in autistic kids as well," said co-author Mansuo L. Hayashi, a former Picower Institute postdoctoral fellow currently at Merck Research Laboratories in Boston.

The study identifies a key enzyme-a chemical reaction-inducing protein-as a possible target for an FXS drug. The enzyme, called p21-activated kinase, or PAK, affects the number, size and shape of connections between neurons in the brain.

Halting PAK's enzymatic activity reversed the structural abnormality of neuronal connections found in the FXS mice, said co-author Susumu Tonegawa, 1987 Nobel laureate and Picower Professor of Biology and Neuroscience. "Strikingly, PAK inhibition also restored electrical communication between neurons in the brains of the FXS mice, correcting their behavioral abnormalities in the process," he said.

There are known chemical compounds that inhibit the enzymatic activity of PAK. These compounds or versions of them may be useful in the future development of drugs for treating FXS, he said.

"These are intriguing findings because the expression of the gene that inhibits PAK occurs in the third week after birth, which means that the neuronal abnormalities in the fragile X mouse are reversed after they appear," said Eric Klann, a professor at New York University's Center for Neural Science. "This is very exciting because it suggests that PAK inhibitors could be used for therapeutic purposes to reverse already established mental impairments in fragile X children."

Restoring neuronal connections
Tonegawa, Hayashi, MIT graduate student Bridget M. Dolan of the Department of Biology and colleagues study the molecules that govern the formation of neuronal connections in the brain. They explore how abnormalities in these molecules could interfere with an animal's behavior.

In the brain, small protrusions called dendritic spines on the branch-like dendrites of one neuron receive chemical signals from other neurons and communicate them to the main cell body. The numbers and shapes of dendritic spines are key to normal brain function.

FXS patients have higher numbers of dendritic spines in their brains, but each spine is longer and thinner, and transmits weaker electric signals, than those in non-affected individuals. When the enzymatic activity of PAK was inhibited in the FXS mice, abnormalities in their spine number and structure-as well as the weaker electrical communication between their neurons-were reversed.

Reversing behavioral symptoms
The FXS mice exhibited symptoms similar to those in FXS patients. These included hyperactivity; purposeless, repetitive movements reminiscent of autistic people; attention deficits and difficulty with learning and memory tasks.

"These behavioral abnormalities are ameliorated, partially or fully, by inhibiting the enzymatic activity of PAK," Tonegawa said. "Notably, due to an elegant genetic manipulation method employed by the Picower Institute researchers, PAK inhibition in the FXS mice did not take place until a few weeks after appearance of disease symptoms. This implies that future treatment may still be effective even after symptoms are already pronounced."

"While future studies will be necessary to further characterize the precise molecular nature of the interaction between PAK and FMR1, our findings clearly demonstrate that PAK inhibition can counteract several key cellular and behavioral symptoms of FXS," the authors noted.

In addition to Tonegawa, a Howard Hughes Medical Institute investigator, Hayashi and Dolan, authors include colleagues at the National Institute of Mental Health and Neurosciences; the Tata Institute of Fundamental Research in India; and Seoul National University in Korea.

This work was supported by the FRAXA Foundation, the Simons Foundation, the Wellcome Trust and the National Institutes of Health.
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PostPosted: Thu Jun 28, 2007 8:19 am    Post subject: UCLA Study First to Show Autistic Brains Can Be Trained to R Reply with quote

UCLA Study First to Show Autistic Brains Can Be Trained to Recognize Visual and Vocal Cues

22 June 2007
UCLA

To understand the meaning of a conversation, kids automatically do what adults do —besides processing the meaning of words, they unconsciously "read" the expression on a person's face and listen to their tone of voice, then integrate that information with the context at hand to discern meaning, be it humor, anger, irony or straightforwardness.

Individuals with autism typically don't do this. They often miss the subtle meanings conveyed by a person's face and tone of voice, and thus have trouble determining the communicative intent of others. Neuroimaging studies have backed this up, showing that individuals with autism spectrum disorders (ASDs) — including autism, pervasive developmental disorder and Asperger's syndrome — show reduced activity in the regions of the brain that respond to such cues.

But what if those brain regions could be trained to respond appropriately? In a report in the current issue of the journal Archives of General Psychiatry and currently online, UCLA researchers did just that. Providing ASD children with explicit instructions to pay more attention to facial expressions and tone of voice elicited an increased response in the medial prefrontal cortex, part of the brain's network for understanding the intentions of others.

"That's significant. The fact that you can 'normalize' activity in this region in the ASD group by directing their attention to these important social cues clearly indicates there's nothing intrinsically wrong with this region in the autistic brain," said Mirella Dapretto, associate professor of psychiatry and biobehavioral sciences at the Semel Institute for Neuroscience and Human Behavior at UCLA and a member of the UCLA Ahmanson-Lovelace Brain Mapping Center. Dapretto co-authored the study with her former graduate student Ting Wang, who is now a postdoctoral fellow at Mount Sinai School of Medicine.

"This is a very positive thing," Dapretto said, "because these findings have implications for future interventions — they suggest that you could train the autistic brain to make use of the information conveyed by the human face and voice to successfully navigate social interactions."

Autism is a complex neurobiological disorder of development that affects one of every 150 children, impairing communication and social skills. ASDs encompass a broad spectrum of disorders that range from mild to severe.

The authors had two goals in mind with their study. One was to examine the neural circuitry in the brain that underlies the problems ASD children face in interpreting communicative intent. The other was to determine whether explicit instructions to pay attention to facial expressions and tone of voice would elicit more normal patterns of brain activity in these children.

While undergoing functional magnetic resonance imaging (fMRI), 18 ASD boys between the ages of 7 and 17, as well as a control group of 18 typically developing (TD) boys, viewed cartoon drawings of children in conversational settings while listening to short vignettes that ended with a potentially ironic remark. Researchers found that, compared with the TD control group, the ASD children had reduced activity in two areas of the brain — the medial prefrontal cortex and right superior temporal gyrus. But when the researchers gave both groups explicit instructions to pay attention to the speaker's facial expression and tone of voice, only the ASD children showed a significant increase in activity in the medial prefrontal cortex.

"The typically developing kids recognized and interpreted these cues automatically when trying to infer if a speaker's remark was sincere or sarcastic, so their brains were already responding appropriately," said Dapretto. "But not so with the ASD kids, who did not show activity in this area when specific instructions weren't provided. This is the first study to show that you can normalize activity in a key region of the so-called 'social brain' in individuals with autism by simply directing their attention to these important social cues."

Other authors of the study included Susan S. Lee and Marian Sigman. The research was funded by the National Alliance for Autism Research, the Cure Autism Now Foundation, the UC Davis M.I.N.D. Institute, and grants from the National Institute of Child Health and Human Development and the National Institute on Deafness and Other Communication Disorders.

The Semel Institute for Neuroscience and Human Behavior at UCLA is an interdisciplinary research and education institute devoted to the understanding of complex human behavior, including the genetic, biological, behavioral and sociocultural underpinnings of normal behavior and the causes and consequences of neuropsychiatric disorders. In addition to conducting fundamental research, the institute faculty seeks to develop effective treatments for neurological and psychiatric disorders, improve access to mental health services and shape national health policy regarding neuropsychiatric disorders.
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PostPosted: Sat Jul 07, 2007 7:24 am    Post subject: Hidden Smarts: Abstract thought trumps IQ scores in autism Reply with quote

Week of July 7, 2007; Vol. 172, No. 1 , p. 4

Hidden Smarts: Abstract thought trumps IQ scores in autism
Bruce Bower

There's more to the intelligence of autistic people than meets the IQ. Unlike most individuals, children and adults diagnosed as autistic often score much higher on a challenging, nonverbal test of abstract reasoning than they do on a standard IQ test, say psychologist Laurent Mottron of Hôpital Rivière-des-Prairies in Montreal and his colleagues.

The same autistic individuals who score near or below the IQ cutoff for "low functioning" or "mental retardation" achieve average or even superior scores on a test that taps a person's ability to infer rules and to think abstractly about geometric patterns, Mottron's team reports in the August Psychological Science.

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http://sciencenews.org/articles/20070707/fob4.asp
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PostPosted: Tue Jul 24, 2007 5:08 pm    Post subject: New Model for Autism Suggests Women Carry the Disorder and E Reply with quote

July 23, 2007
Cold Spring Harbor Laboratory

New Model for Autism Suggests Women Carry the Disorder and Explains Age as a Risk Factor


A new model for understanding how autism is acquired has been developed by a team of researchers led by Cold Spring Harbor Laboratory (CSHL) and Albert Einstein College of Medicine. Autism is a developmental disorder, characterized by language impairments, social deficits, and repetitive behaviors. The researchers analyzed data on autism incidence and found a previously unrecognized pattern. The pattern can be explained by assuming that spontaneous germ-line mutation is a significant cause of the disorder. Parents, especially women, who acquire the mutation – but do not exhibit severe symptoms of the disorder – have a 50% chance of passing the mutation on to their children. Sons often show the most severe symptoms.

Spontaneous mutations are changes in a chromosome that alter genes. Germ-line mutations are newly acquired in a germ cell of a parent, and sometimes are transmitted to offspring at conception. Men and women are equally as likely to acquire a spontaneous mutation that can cause autism, but autism is three times more likely in men, making women the more likely carriers of new mutations. “The fact that germ-line mutations increase with age places older parents at a higher risk of having children with autism, explaining a pattern that has been recently observed,” said CSHL co-author of the study Michael Wigler, Ph.D.

The model proposes two prominent risk classes for families affected by autism. Low risk families give rise to sporadic autism, the more common form, by spontaneous germ-line mutation. The children, mostly female, who receive such a mutation, but do not display the disorder, are the source of the high risk families. The data show that the transmission pattern to boys in high risk families is often of a dominant pattern that may account for a quarter of autism. Although the data does not answer whether there is a gradation of lower risk, the model builds on recent CSHL findings that spontaneous mutation is frequent in sporadic autism and less frequent in children from high risk families.

Wigler suggests that “what we now know about spontaneous mutations and autism offers an alternative to traditional thinking about genetic disorders as purely heritable from a parent. This has implications for other disorders such as morbid obesity, schizophrenia, and congenital heart disease.”

The full citation of the paper published in the July 31, 2007 print edition of the Proceedings of the National Academy of Sciences is: "A unified theory for sporadic and inherited autism," by Xiaoyue Zhao, Anthony Leotta, Vlad Kustanovich, Clara Lajonchere, Daniel H. Geschwind, Kiely Law, Paul Law, Shanping Qiu, Catherine Lord, Jonathan Sebat, Kenny Ye and Michael Wigler.

The research was funded by the Simons Foundation and utilized databases from the Autistic Resource Exchange (AGRE) Consortium, the University of Michigan, and the Interactive Autism Network (IAN). IAN is an on-line national autism registry and database launched in April by the Kennedy Krieger Institute. Families impacted by an Autism Spectrum Disorder can contact IAN at www.ianproject.org.

CSHL is a private, non-profit research and education institution dedicated to exploring molecular biology and genetics in order to advance the understanding and ability to diagnose and treat cancers, neurological diseases, and other causes of human suffering.


For more information, visit www.cshl.edu
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PostPosted: Sat Aug 04, 2007 10:44 am    Post subject: The matrix of autism Reply with quote

Association for Psychological Science
3 August 2007
The matrix of autism

Autistic children are doubly stigmatized. On the one hand, they are often dismissed as “low functioning” or mentally retarded, especially if they have poor speaking skills as many do. Yet when autistics do show exceptional abilities—uncanny visual discrimination and memory for detail, for example—their flashes of brilliance are marginalized as aberrations, mere symptoms of their higher order cognitive deficit. They often earn a dubious promotion to “idiot savant.”

The theoretical justification for this view is that prototypical autistic skills are not true intelligence at all, but really just low-level perceptual abilities. Indeed, in this view autistics are missing the big picture because they are obsessed with the detail.

But is this true" Are autistics really incapable of abstraction and integration and other high-level thinking" Surprisingly, given how pervasive this view of autism is, it has never been rigorously tested. But a team of scientists in Canada suspected that the tests themselves might be baised and decided to explore the idea in the lab.

Led by psychologist Laurent Mottron of the University of Montreal, the team gave both autistic kids and normal kids two of the most popular IQ tests used in schools. The two tests are both highly regarded, but they are very different. The so-called WISC relies heavily on language, which is why the psychologists were suspicious of it. The other, known as the Raven’s Progressive Matrices, is considered the preeminent test of what’s called “fluid intelligence,” that is, the ability to infer rules, to set and manage goals, to do high-level abstractions. Basically the test presents arrays of complicated patterns with one missing, and test takers are required to choose the one that would logically complete the series. The test demands a good memory, focused attention and other “executive skills,” but—unlike the WISC—it doesn’t require much language.

The idea was that the autistic kids’ true intelligence might shine through if they could bypass the language deficit. And that’s exactly what happened. The difference between their scores on the WISC and the Raven’s test was striking: For example, not a single autistic child scored in the “high intelligence” range of the WISC, yet fully a third did on the Raven’s. Similarly, a third of the autistics had WISC scores in the mentally retarded range, whereas only one in 20 scored that low on the Raven’s test. The normal kids had basically the same results on both tests.

The scientists ran the same experiment with autistic and normal adults, with the same result. As they report in the August issue of Psychological Science, a journal of the Association for Psychological Science, these findings speak not only to the level of autistic intelligence but to the nature of autistic intelligence. While it is probably true that autistics possess extraordinary perceptual skills, and that they use unique cognitive pathways for problem solving, their intelligence clearly goes far beyond rote memory and perception to include complex reasoning ability. That won't come as any surprise to Michelle Dawson, who is autistic. She is also a scientific collaborator on this study.
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PostPosted: Sun Sep 09, 2007 8:10 am    Post subject: 'Rain Man' mice provide model for autism Reply with quote

'Rain Man' mice provide model for autism
7 September 2007
UT Southwestern Medical Center

Mice containing a mutated human gene implicated in autism exhibit the poor social skills but increased intelligence akin to the title character's traits in the movie "Rain Man," researchers at UT Southwestern Medical Center have found.

For the full article:

http://www.utsouthwestern.edu/.....10364.html
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PostPosted: Mon Oct 22, 2007 12:40 pm    Post subject: Autism Consortium releases data on genes involved in autism Reply with quote

The Autism Consortium

Autism Consortium releases data on genes involved in autism to researchers worldwide

BOSTON – OCTOBER 22, 2007 – The Autism Consortium, a group of researchers, clinicians and families dedicated to radically accelerating research and enhancing clinical care for autism, announced today that it has completed the first genome scan for Autism Spectrum Disorders (ASD) through its Autism Gene Discovery Project and has released the reference data set to a database that autism researchers around the world can use. The scan was conducted using new, high resolution technology developed by Affymetrix on genetic data from more than 3,000 children with ASD and their families.

“Today’s release of genetic and phenotypic data on autism marks a significant achievement for the autism research community,” said Thomas Insel, Ph.D., Director of the National Institute for Mental Health. “Progress in finding the causes and cures for autism spectrum disorders rests in large part on improving the rapid access and sharing of data and resources That the Consortium is making the data available to the scientific community even before its own researchers have fully analyzed the information, demonstrates their high degree of commitment to and leadership in advancing autism research.”

Along with complementary data generated by Dr. Aravinda Chakravarti at Johns Hopkins and provided to the NIMH this week, these data provide the most detailed look to date at the genetic variation patterns in families with autism.

Mark Daly, PhD, a Consortium member with the Center for Human Genetic Research at Massachusetts General Hospital and a senior associate member of the Broad Institute of Massachusetts Institute of Technology and Harvard, released genetic data from genome wide scans of DNA variation collected from 3,000 individuals who are either affected by autism spectrum disorders, or are family members of individuals with autism. DNA samples for this scan were provided by the Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks, dedicated to accelerating the pace of autism research.

“We’re releasing raw genotype data so that other qualified researchers can take a look at it even as we’re still beginning our own analysis,” Daly said. “Autism Spectrum Disorders are extremely complex and only through collaboration with researchers with many specialized areas of expertise will we gain an understanding of what makes some children susceptible. That’s why we have been committed to providing the data to the research community as fast as we can. The new data will be deposited in the gene bank maintained by AGRE, which, in turn, will make the data available to qualified researchers.”

“It is really something of a landmark to have both data from his laboratory and mine available to autism researchers at virtually the same time,” said Dr. Chakravarti, who collaborated with Dr. Daly for many years. “We will each look carefully at the other’s findings as we continue to search for definitive information about which genes are important in causing autism spectrum disorders.”

The prepublication release of such a significant trove of data is a dramatic departure from the traditional less open culture of research science and a landmark achievement for the Consortium and its Autism Gene Discovery Project, the first comprehensive genetic association study to examine the entire human genome related to autism.

The number of individuals diagnosed with autism spectrum disorders has significantly increased in recent years. Although there is some uncertainty about the role that better diagnosis, greater recognition of the disorders, and biological and environmental factors play; there is growing agreement in the research community that genes have a significant role in autism spectrum disorders. The release of the data from this screen is a significant step toward identifying the genes involved in ASD.

Researchers in the Autism Gene Discovery Project conducted the genome wide study using GeneChip® microarray technology made by Affymetrix Inc, of Santa Clara, California, in their search for autism spectrum disorder-related genes. The Affymetrix 500K Array offers a comprehensive view of the genome, enabling researchers to analyze 500,000 markers simultaneously and perform whole-genome analyses in large populations. The Affymetrix microarray chips were processed by researchers in the Broad Institute's Genetic Analysis Platform.

These tools enable researchers to search across the entire genome for areas of deletions or duplications of genetic material or for single nucleotide polymorphisms (SNPs), small changes in the DNA sequence. Daly, a statistical geneticist, and his colleagues wrote two mathematical algorithms to analyze the genome scan for specific genes involved in autism spectrum disorders, or for the absence of genes that ought to be present. Among other things, the Autism Consortium’s Gene Discovery Group found what they believe may be important new information on the genes involved in autism spectrum disorders. The next step is to conduct an association analysis to determine the role that the genetic variations identified in the scan play in autism spectrum disorders.

According to Daly, the speed at which he collected genome wide data from such a large sample could not have been accomplished without the funding or the collaboration from the Autuism Consortium, which contributed the $1 million needed to complete the project saving the researchers months or years seeking grants. The grant was made possible through a gift from the Anne and Paul Marcus Family Foundation which provided the funds for the Gene Association Study as well as for the purchase of the entire set of samples from AGRE.

“Autism spectrum disorders present major challenges for families, communities, and the health care system,” said Peter Barrett, president of the Autism Consortium. “Our job is to accelerate new ways to diagnose and treat autism spectrum disorders by breaking down barriers. In this case, we are working to foster collaboration between scientists from multiple institutions. Autism spectrum disorders are the focus here, not any single scientific group’s accomplishment. What we've shown within a year is that when people work together toward a common goal, we can speed up our understanding of these disorders and move towards better ways to help individuals with autism spectrum disorders and their families.”


###
About the Autism Consortium:

The Autism Consortium involves a group of leading universities and medical centers in the Boston area. The Consortium includes families, researchers and clinicians who have joined together to radically accelerate research and enhance clinical care for autism spectrum disorders. A private nonprofit, funded entirely by donors, the Consortium is ground-breaking in a number of ways. We focus on families, linking them to the resources they need and supporting them in participating in research studies to understand and treat autism spectrum disorders. The Consortium brings together the best minds across Boston, from Beth Israel Deaconess Medical Center, Boston Medical Center, Boston University, Boston University School of Medicine, Broad Institute of MIT and Harvard, Cambridge Health Alliance, Children’s Hospital Boston, Harvard University, Harvard Medical School, Massachusetts General Hospital, Massachusetts Institute of Technology, McLean Hospital and Tufts-New England Medical Center. To learn more about the Autism Consortium, please visit www.autismconsortium.org

About Autism Speaks:

Autism Speaks is dedicated to increasing awareness of autism spectrum disorders, to funding research into the causes, prevention, treatments and cure for autism, and to advocating for the needs of affected families. It was founded in February 2005 by Suzanne and Bob Wright, the grandparents of a child with autism. Bob Wright is Vice Chairman, General Electric, and served as chief executive officer of NBC for more than twenty years. Autism Speaks has merged with both the National Alliance for Autism Research (NAAR) and Cure Autism Now (CAN), bringing together the nation’s three leading autism advocacy organizations. To learn more about Autism Speaks, please visit www.autismspeaks.org

About the Broad Institute of MIT and Harvard:

The Broad Institute of MIT and Harvard was founded in 2003 to bring the power of genomics to biomedicine. It pursues this mission by empowering creative scientists to construct new and robust tools for genomic medicine, to make them accessible to the global scientific community, and to apply them to the understanding and treatment of disease. The Institute is a research collaboration that involves faculty, professional staff and students from throughout the MIT and Harvard academic and medical communities. It is jointly governed by the two universities.

Organized around Scientific Programs and Scientific Platforms, the unique structure of the Broad Institute enables scientists to collaborate on transformative projects across many scientific and medical disciplines. For further information about the Broad Institute, go to http://www.broad.mit.edu

About Affymetrix, Inc:

Affymetrix Inc. (Nasdaq:AFFX) scientists invented the world's first high-density microarray in 1989 and began selling the first commercial microarray in 1994. The microarray technology is used by the world's top pharmaceutical, diagnostic and biotechnology companies, as well as leading academic, government and nonprofit research institutes. More information about Affymetrix can be found at http://www.affymetrix.com
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PostPosted: Wed Dec 05, 2007 2:15 pm    Post subject: MIT: Missing protein may be key to autism Reply with quote

Massachusetts Institute of Technology

MIT: Missing protein may be key to autism

CAMBRIDGE, Mass.--A missing brain protein may be one of the culprits behind autism and other brain disorders, researchers at MIT's Picower Institute for Learning and Memory report in the Dec. 6 issue of Neuron.

The protein helps synapses develop. Synapses--through which neurons communicate with one other-underlie our ability to learn and remember. Now Li-Huei Tsai, Picower Professor of Neuroscience at MIT, has uncovered an enzyme that is key to that protein's activity.

Synapses are complex structures consisting of ion channels, receptors and intricate protein complexes that all work together to send and receive signals. Improperly formed synapses could lead to mental retardation, and mutations in genes encoding certain synaptic proteins are associated with autism.

Tsai studies a kinase (kinases are enzymes that change proteins) called Cdk5. While Cdk5's best-known role is to help new neurons form and migrate to their correct positions during brain development, “emerging evidence supports an important role for Cdk5 at the synapse,” she said.

To gain a better understanding of how Cdk5 promotes synapse formation, Tsai's lab looked into how Cdk5 interacts with synapse-inducing proteins-in particular, a protein called CASK. CASK--a key scaffolding protein-is one of the first proteins on the scene of a developing synapse.

Scaffolding proteins such as CASK are like site managers, supporting protein-to-protein interactions to ensure that the resulting architecture is sound. Mutations in the genes responsible for Cdk5 and CASK have been found in mental retardation patients.

“We found that Cdk5 is critical for recruiting CASK to do its job for developing synapses,” Tsai said. “Without Cdk5, CASK was not in the right place at the right time, and failed to interact with essential presynaptic components. This, in turn, led to problems with calcium influx.” The flow of calcium in and out of neurons affects processes central to nervous system development and plasticity--its ability to change in response to experience.

Gene mutations and/or deletions in synaptic cell surface proteins and molecules called neurexins and neuroligins have been associated with autism. The problem with CASK recruitment investigated by the Tsai laboratory creates the same result as these genetic changes.

The Picower study also provides the first molecular explanation of how Cdk5, which also may go awry in neurodegenerative diseases such as Alzheimer's, promotes synapse development.

"There are still a lot of unknowns," said Tsai, who is also a Howard Hughes Medical Institute investigator. "Causes for psychiatric disorders are still very unclear, but accumulating evidence strongly suggests that alterations in the synaptogenesis program can lead to these serious diseases.”


###

In addition to Tsai and Picower researcher Benjamin A. Samuels, co-authors are associated with Harvard Medical School; Johns Hopkins University School of Medicine; McLean Hospital in Belmont, Mass.; and Academia Sinica in Taiwan.

This work is supported by the National Institute of Neurological Disorders and Stroke (NINDS).
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