The Autism News

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By Val Willingham, CNN

When Ryan Wallace got a diagnosis of autism at age 2, his parents never thought they’d hear him speak.

“He used to make noises. When he wanted something he would just point,” says Ryan’s father, Gerald David Wallace. “Or he would scream.”

Therapists say that’s not unusual for someone with Ryan’s condition. According to doctors, many children with autism have difficulty understanding information from the outside world.

“The brain’s ability to process information comes in from the eyes, ears and other senses during infancy,” says Dr. Mark Wallace, an expert on sensory processing who directs the Vanderbilt Brain Institute who is not related to Ryan.”If that [ability] is compromised during the early developmental period, you will never be able to really gain full function in these systems.”

Because these children lack the ability to understand this auditory information, it can prevent them from developing any form of language and therefore their ability to communicate. Some stages of autism make it hard for children to comprehend sounds, words, expressions and even inflections.

“That’s the thing that parents often notice first in their children [who have autism]. They can’t talk,” says Dr. Stephen Camarata, a professor of hearing and speech science at Vanderbilt’s Wilkerson Center for Otolaryngology and Communication Sciences.

“But the hidden side of this is that they also have a lot of difficulty understanding, comprehending, auditory comprehension, listening. And so when a child’s autism is experiencing somebody talking to them, it’s a lot like somebody’s talking to them in a foreign language,” he says.

That can be frustrating for their parents, because at a time when most little ones should be learning to speak, their children can’t form words. Many of these parents seek out programs that claim they can help children with autism speak. Doctors warn that can be risky.

“Families who have a child with autism face daunting challenges, says Camarata. “Because of this, they are often going to leave no stone unturned in their searches for solution. Unfortunately, there are a lot of fringe treatments out there, they aren’t effective and haven’t been scientifically validated.”

In the case of Ryan Wallace, now 7, his parents knew at an early age that something was wrong and they needed to intervene.

“He was a healthy baby boy, but then things started to change,” says Amy Wallace, Ryan’s mom.

“It was around 18 or 20 months we noticed, he was really happy and then he wasn’t” according to his dad. “You could see it in his pictures, as he goes from infant into toddlerhood the smile kind of fades away. And then he wouldn’t look at you. He would just stare into space. And we had no clue what was going on.”

Ryan wouldn’t talk. He’d grunt or if he became emotionally upset, he’d have what his parents called “meltdowns” and would start screeching. His parents didn’t know what to do or how to handle him. Fortunately, when doctors told them Ryan had autism, they immediately got him into speech and occupational therapy.

“We looked everywhere to find him help,” says Amy Wallace. “We finally got him into the Susan Gray School, which is for special-needs kids at Vanderbilt.”

While at Susan Gray, Ryan’s therapists and parents decided to enroll him in a new research project that was scientifically evaluating programs designed to help kids with autism learn to speak, including sensory integration therapy. Sensory integration is an occupational therapy designed to improve communication skills by placing a child in a room specifically designed to challenge all his or her senses. In the study, Ryan is shown pictures on a computer screen and asked to name and identify the items. The procedure is repeated over and over. He also is given a story that includes all the words he has seen on the computer and at the same time works with a therapist.

“So, children learn how to comprehend through interacting with toys, interacting with pictures, and then an adult or another person is talking to them and giving them information about what they’re seeing and experiencing,” explains Camarata. “It’s very repetitive so that the child has lots of opportunities to learn the meaning of each of these things they’re interacting with.”

The study is twofold. Once Ryan has gone through his therapy, he’s fitted with special headgear that records his brain language sensors while he watches a video that incorporates the words he’s just learned. By getting a picture of the brain, it gives doctors an insight into how the autistic brain works.

“The idea is that when you learn a new word you see it and then somebody tells you the name of it and then you link these things in your long-term memory,” says Camarata. “People with autism have a very hard time doing that.”

Sensory integration therapy advocates say the widely used program’s constant stimulation helps children with autism learn to speak. But sensory integration therapy is controversial because there’s very little scientific data on its effectiveness. That’s why, Camarata says, it’s important researchers investigate sensory integration therapy and other therapies to see whether they are effective.

“When these parents are seeking answers,” Camarata says, “we as researchers can come to them with answers that have been tested and validated scientifically.”

Since Ryan has been working with sensory integration therapy, his parents say, his progress has been remarkable. “He’s initiating more. He talks and engages in conversations. He isn’t afraid and comes up to people and says, ‘Hi!’ ” Amy Wallace says with a smile. Ryan’s father, Gerald, agrees. “That’s huge for us. And he says, ‘Love you,’ and now he says, ‘I love you.’ You can’t ask for more.”

The project, which was funded through a two-year, $670,000 federal stimulus grant, is still enrolling children. Sensory integration therapy is just one of many therapies that Camarata, Wallace and their staff hope to investigate in order to prove their worth.

Camarata wants to provide scientifically proven help to families touched by autism.

“I see so many therapies and programs out there that don’t work, and they prey on the desperate needs of families. That’s wrong,” he says. “We are finally starting to get to the point where we can test different interventions and see what works and what doesn’t work. If it helps these children, than we need to let parents know. If the therapy doesn’t help, than it needs to be exposed for what it is.”

Source: http://www.cnn.com/2010/HEALTH/03/01/autism.speech.learning/

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By The Press Association

A baby boy has taken part in a brain study to help psychologists understand how autism develops.

Four-month-old Matai Reid was monitored by scientists at Durham University to see how he responded to different moving images on a television screen.

Matai, from Durham, was fitted with a cap with sensors attached so his brain activity could be recorded.

Dr Vincent Reid, a psychologist at Durham University, said: “We don’t yet know enough about how the brains of very young babies develop and how they react to things.

“It is vital we know more so we can identify problems and developmental delays much earlier which could lead to earlier diagnosis of conditions such as autism.”

Matai’s mother, Gemma Reid, said: “The babies enjoy doing the study I think. They enjoy watching the stimuli. I think it is really important that we examine babies and look at how they behave when they are younger. I think it can tell us a lot about their development.

“There is so much we need to learn about conditions like autism and just looking at how babies develop normally can help with this.”

The National Autistic Society describes autism as a lifelong developmental disability. People who suffer from autism have difficulty with social communication and interaction.

Dr Reid added: “It is important to stress that the procedure is non-invasive, harmless and painless. We are not doing any medical testing in this study but purely looking at babies’ brains from an academic point of view.”

Source: (UKPA)

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The pressures of human evolution may help explain the apparent rise of autism, autoimmune diseases, and other disorders, according to a study by Harvard Professor Peter Ellison (above) and other researchers. (Jon Chase/Harvard Staff Photographer)

By Harvard Gazette

The subtle but ongoing pressures of human evolution could explain the seeming rise of disorders such as autism, autoimmune diseases, and reproductive cancers, researchers said Friday (Jan. 8) in the Proceedings of the National Academy of Sciences. Some adaptations that once benefited humans may now be helping such ailments persist in spite of — or even because of — advancements in modern culture and medicine.

“This work points out linkages within the plethora of new information in human genetics and the implications for human biology and public health, and also illustrates how one could teach these perspectives in medical and premedical curricula,” said author Peter Ellison, John Cowles Professor of Anthropology at Harvard University.

Ellison’s co-authors are Stephen Stearns of Yale University, Randolph Nesse of the University of Michigan, and Diddahally Govindaraju of the Boston University School of Medicine. The research was first presented at the Arthur M. Sackler Colloquium, co-sponsored by the National Academy of Sciences and the Institute of Medicine.

Colloquium presentations described in the current paper include research suggesting that:

● Autism and schizophrenia may be associated with the overexpression of paternally or maternally derived genes and influences, a hypothesis advanced by Bernard Crespi of Simon Fraser University.

● Maternal and paternal genes engage in a subtle tug-of-war well into childhood, with consequences for childhood development, according to David Haig, George Putnam Professor of Organismic and Evolutionary Biology at Harvard.

● Humans may be susceptible to allergies, asthma, and autoimmune diseases because of increased hygiene, according to Kathleen Barnes of Johns Hopkins University. Without being exposed to intestinal worms and parasites, as our ancestors were, our immune systems are hypersensitive.

● Natural selection still influences our biology, despite advances in modern culture and medicine. Stearns found that natural selection favors heavier women and reduces the age at which a woman has her first child.

In the final presentation of the colloquium, researchers called for the integration of evolutionary perspectives into medical school curricula, to help future physicians consider health problems from an evolutionary perspective.

“We’re trying to design ways to educate physicians who will have a broader perspective and not think of the human body as a perfectly designed machine,” said Ellison. “Our biology is the result of many evolutionary tradeoffs, and understanding these histories and conflicts can really help the physician understand why we get sick and what we might do to stay healthy.”

Previous work in evolutionary medicine helped explain why disease is so prevalent and difficult to prevent. Because natural selection favors reproduction over health, biology evolves more slowly than culture, and pathogens evolve more quickly than humans.

“I think that the main take-home point is that evolution and medicine really do have things to say to each other, and some of these insights actually reduce suffering and save lives,” said Stearns.

Source: http://news.harvard.edu/gazette/story/2010/01/evolution-and-ailments/

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By Carina Storrs | Scientific American

Some people seem to have it all, mentally speaking—strong math and verbal skills, a keen memory and good spatial sense. This gift could be chalked up to good “generalist genes,” or genes that affect many cognitive abilities and, broadly speaking, determine intelligence. The downside of generalist genes is that, because their functions overlap, someone who falters at understanding algebra may also be more likely to have trouble learning a foreign language.

But good news for Mensa rejects comes in a study published in the January 7 issue of Current Biology. Scientists identified the first high-level cognitive skill—the ability to recognize faces—that is independent of IQ-related skills. By studying pairs of identical and fraternal twins, the researchers found that, unlike cognitive abilities such as verbal and spatial understanding, the inheritance of facial recognition does not correlate with IQ inheritance.

The finding supports a Swiss Army knife metaphor for the mind, says Jia Liu, a neuroscientist at Beijing Normal University in China and lead author of the study. According to this thinking, the mind is a general-purpose tool that handles IQ-related skills and lower level tasks such as reacting to a stimulus, but that also has specialized tools. One of these, Liu’s study suggests, is facial recognition. As he points out, the ability to distinguish a friend from a stranger is a fundamental skill for social animals like humans. There are, however, shades of gray in that some people can recognize strangers, for example, better than others.

To study the inheritance of facial recognition ability, Liu’s group worked with 102 pairs of identical twins and 71 pairs of fraternal twins that were recruited from elementary and middle schools in Beijing. Because identical twins have the same genome while fraternal twins share 50 percent of their genes, hereditary traits such as IQ are more likely to be similar among identical than fraternal twins. But traits like IQ still vary among identical twins because they are also influenced by environmental factors.

By conducting a facial recognition test, Liu’s group found that the ability to recognize faces was also more similar among identical than fraternal twins and, thus, hereditary. For this experiment, participants first looked at black-and-white pictures of 20 different faces on a computer screen for 1 second per image. Then, in the test trial, the researchers showed the participants 10 of these faces intermixed with 20 new faces and asked them to identify the ones they had already seen. Thirty-seven percent of the pairs of identical twins had the same score in this test, compared with only 5 percent of fraternal twin pairs

The researchers took into account the ability of participants to recognize other types of images. Additional series of tests were done where participants were asked to remember pictures of either inverted or misaligned faces. Even though these images have the same visual content as unaltered faces, they are not recognized as faces. Liu’s group found no difference between the ability of identical and fraternal twins to recognize these images, indicating that it is the ability to recognize faces, not just visual images, which is hereditary.

To determine if facial recognition ability is inherited under the same umbrella as intelligence-related traits, the researchers tested the intelligence of the participants using a popular multiple-choice IQ test called the Raven’s Matrices. Liu’s team found that the pairs of twins that shared similar IQs were in many cases not the same pairs that shared facial recognition ability.

Because facial recognition is inherited independently of the IQ-related cognitive skills, the authors suggest that specialist, rather than generalist, genes are responsible for this skill. “This finding raises the question of what other specific cognitive abilities are independently heritable,” they wrote. Because children with autism can have normal IQs, Liu thinks that autism disorders might be controlled by specialist genes. Other candidates for specialized cognitive abilities are dyslexia and certain aspects of language comprehension, the latter of which Liu’s group plans to study next.

The image shows two of the unaltered and inverted face pictures that were used in the facial recognition test. The image is courtesy of Zhu et al., State Key Laboratory of Cognitive Neuroscience and Learning

Source: http://www.scientificamerican.com/blog/post.cfm?id=in-the-swiss-army-knife-of-the-brai-2010-01-07

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By GEN News Highlights

A group of scientists have linked deletions in certain sections of chromosome 16 with severe, early-onset obesity in children. They claim that the findings represent the first time copy number variants (CNVs) have been associated with the condition.

The research also has implications for the way childhood obesity is diagnosed; the study has already led to some children who were previously thought to have been deliberately overfed by their parents being removed from a social services at-risk register.

The researchers, from University of Cambridge Metabolic Research Laboratories, the Wellcome Trust Sanger Institute, Bristol Children’s Hospital, and St. Mary’s Hospital in Manchester published their data in Nature in a paper titled “Large, rare chromosomal deletions associated with severe early-onset obesity.”

Cambridge University’s Sadaf Farooqi, Ph.D., and colleagues claim that while genome-wide association studies have identified common SNPs associated with increased body mass index, together these only account for a small percentage of the inherited variation. In the hunt for further genetic clues, they compared the genomes of 300 children with severe obesity with those of 7,000 apparently healthy controls. The severely obese study population was chosen to include 143 children who also demonstrated developmental delay, which is known in some cases to be linked with rare CNVs.

Genome analysis highlighted a significantly higher prevalence of deletions in region 16p11.2 among the study cohort compared with the controls. These deletions were associated with highly penetrant familial severe early-onset obesity and severe insulin resistance. One large de novo 16p11.2 deletion was shown to extend through a 593-kilobase region previously associated with autism and mental retardation. The severely obese children who harbored this deletion also showed signs of developmental delay.

Importantly, 16p11.2 deletions were found to span the SH2B1 gene, which is known to be involved in leptin and insulin signaling, the researchers point out. People with deletions involving the SH2B1 gene particularly exhibited excess need to eat and severe insulin resistance that was disproportionate to their degree of obesity.

“Novel CNVs unique to patients with severe early-onset obesity and the increased CNV burden (which is not fully accounted for by SH2B1 deletions) suggest a role for additional genes in the etiology of severe obesity,” the investigators conclude. “Our findings indicate the presence at the same loci of both common variants influencing susceptibility to common obesity and more highly penetrant rare variants including CNVs associated with severe early-onset forms of the disease.”

Source: http://www.genengnews.com/news/bnitem.aspx?name=70396865

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By EmpowHer

While scientists have long known autism is highly hereditary, their challenge has been identifying the genetic factors associated with it. In a recent study, researchers took an important step toward developing a better understanding of this complex neurodevelopmental disorder.

The study uncovered a simple change in the genetic code that is associated with autism, implicating a neuronal gene that has not previously been tied to the disorder. The genetic code is a long chain of four letters (A, C, G and T) in varying sequences that specify genetic information, and researchers found that a particular single-letter change, or mutation, in this code could play an important role in autism. The research highlighted two other regions of the genome which are likely to contain rare genetic differences that may also influence autism risk.

The study was a large multinational collaboration led by researchers at the Broad Institute of Harvard and MIT in Cambridge, Massachusetts, founded in 2003 to use new genome-based knowledge in medical research. Other participants included Massachusetts General Hospital and Johns Hopkins University.

“These genetic findings give us important new leads to understand what’s different in the developing autistic brain compared with typical neurodevelopment,” said Lauren Weiss, the co-lead author of the study’s results, which were published in the October 8 issue of the journal Nature. Weiss, a former postdoctoral fellow at MGH and the Broad Institute, is currently an assistant professor of psychiatry and human genetics at University of California, San Francisco. “We can now begin to explore the pathways in which this novel gene acts, expanding our knowledge of autism’s biology.”

Support for the study was provided by the Autism Consortium, the Nancy Lurie Marks Family Foundation, NARSAD, the National Center for Research Resources, the National Institute of Mental Health, the Simons Foundation, and others.

Using a Two-Pronged Approach

In order to better understand the complex genetics behind autism, the researchers devised a two-pronged approach that looked at the entire genome, which is all of an organism’s hereditary information. The first prong analyzed DNA from autism patients and their family members.

The goal of this family-based method was detecting portions of the genome that harbor rare but large-effect DNA variants.

The second prong, a population-based method known as “association,” examined DNA from unrelated individuals. This step is useful for exposing common genetic variants that are associated with autism and tend to exert more modest effects.

“The biggest challenge to finding the genes that contribute to autism is having a large and well studied group of patients and their family members, both for primary discovery of genes and to test and verify the discovery candidates,” said Aravinda Chakravarti, professor of medicine, pediatrics and molecular biology and genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins, and one of the study’s senior authors. He also notes the study would not have been possible without genomic scanning technologies.

Identifying the Relevant Genomic Regions

The researchers’ results highlight three regions of the human genome. These include parts of chromosomes 6 and 20, the top-scoring regions to emerge from the family-based linkage studies.

Although further research is needed to localize the exact causal changes and genes within these regions that contribute to autism, these findings can help guide future work.

“The genomic regions we’ve identified help shed additional light on the biology of autism and point to areas that should be prioritized for further study,” said Mark Daly, one of the study’s senior authors, a senior associate member at the Broad Institute and an associate professor at the Center for Human Genetic Research at MGH. “Given the genetic complexity of autism, it’s unlikely that a single method or type of genomic variation is going to provide us with a complete picture. Our approach of combining multiple complementary methods aims to meet this critical challenge.”

Although the Nature paper identifies a handful of new genomic regions, the researchers emphasize that the findings are just one piece of a very large – and mostly unfinished – puzzle. Future studies involving larger patient cohorts and higher resolution genomic technologies, such as next-generation DNA sequencing, promise to yield a deeper understanding of autism and its complex genetic roots.

Source: http://www.empowher.com/news/herarticle/2009/12/01/broad-genome-study-increases-understanding-autism

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By ROBERT S. BOYD | McClatchy Newspapers

Scientists are beginning a large-scale effort to identify and analyze the vast majority of cells in or on your body that aren’t of human origin.

Only about 10 percent of the trillions of cells that make up a person are truly human, researchers say. The other 90 percent are bacteria, viruses and other microbes swarming in your gut and on your skin.

“We really are a superorganism,” Brett Finlay, a microbiologist at the University of British Columbia in Vancouver, said in an e-mail. “From the moment we are born until we die, we live in a symbiotic relationship with our microbes.”

“At birth, babies emerge from a sterile environment into one that is laden with microbes,” said Laurie Comstock, a microbiologist at Harvard Medical School in Boston. “The infant’s intestines then rapidly become home to one of the densest populations of bacteria on Earth.”

Most of these microbes are harmless, researchers say. Many are necessary to life and health. A troublesome minority, however, can cause everything from teenage acne and obesity to autism and cancer.

The National Institutes of Health has launched a $115 million, five-year project to identify, analyze and catalog hundreds of microbial species resident in or on the human body.

Called the Human Microbiome Project, it’s modeled after the Human Genome Project, which decoded most of the human genes in the 1990s. The first 35 microbiome research grants took effect this summer.

“The composition of the complex microbial communities inhabiting the human body has a tremendous influence on human health and disease,” said Richard Gibbs, a leading human genome researcher at the Baylor College of Medicine in Houston. Gibbs received a grant to sequence the genes of 400 bacterial strains by 2011.

The goal of the Microbiome project, which is international in scope, is to identify which microbes are harmful and to figure out ways to prevent or treat diseases they cause.

It’s a bewildering task because scientists estimate there are about 1,000 different species of microbes living in the human gut and about as many more separate species on human skin.

The microbes form tiny colonies of bacteria that settle in different areas of the body. Jeffrey Gordon, a microbiologist at the University of Washington in St. Louis, likened them to “ecosystems,” similar to those that plants and animals form on islands on Earth.

The most popular site for human skin microbes, surprisingly, is the forearm, which is home to 44 different microbial species, according to a recent study by Julia Segre, a microbiologist at the National Human Genome Research Institute in Bethesda, Md. The most barren region is behind the ear, where only 15 species typically settle, she reported in the journal Science last May.

“Hairy moist underarms lie a short distance from dry forearms, but these two niches are as ecologically dissimilar as rainforests are to deserts,” Segre said.

Different tribes of microbes are associated with different maladies. For example, bacteria associated with the skin disease psoriasis favor the outer elbow, Segre reported. Eczema bugs prefer the inner elbow.

Microbes also vary between people. Matthias Tschoep, an obesity expert at the University of Cincinnati’s College of Medicine, identified 383 microbial genes that differed significantly between pairs of obese and slender twins. Microbes in obese people harvest sugars and fats in the diet more efficiently than do others on slender people, he reported in Nature.

“It is possible that drug targets or drug candidates for the treatment of obesity could be identified from the obesity-associated microbiome,” Tschoep said.

At a Conference on the Beneficial Effects of Microbes held in San Diego last fall, scientists described many ways in which microbes can be helpful – even essential – to humans.

Bacteria in the gut make it possible to digest food, synthesize vitamins, remove toxins and develop the immune system after birth.

One of the new Human Microbiome grants went to Robert Modlin, a dermatologist at the University of California, Los Angeles, to study microbes lurking under the skin that cause 17 million Americans – including 80 percent of those age 12 to 24 – to suffer from acne.

“Success may lead to the development of new, effective therapeutic strategies for treatment of acne,” Modlin’s grant announcement declared.

Source: http://www.kansascity.com/437/story/1419921.html

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By Times of India

Scientists at Beth Israel Deaconess Medical Center (BIDMC) say that a form of partial epilepsy, which is associated with auditory and other sensory hallucinations, may result from the disruption of brain development during early childhood.

The researchers claim that their findings provide the first genetic link between childhood brain development and a seizure disorder that lasts throughout adulthood, and also identify a new pathway that controls how neuron circuits are “pruned” and matured.

“During early childhood – roughly between the ages of one and five – the brain undergoes a period of major circuit remodeling,” Nature magazine quoted senior author Dr. Matthew Anderson, a principal investigator in the Departments of Neurology and Pathology at BIDMC, as saying.

“Our discovery that a familial form of temporal lobe epilepsy can develop at this point demonstrates the fragility of the brain during this critical period,” he added.

In their study report, the researchers have revealed that their findings focus on the development of synapses, the connections between brain cells.

“At birth, the brain is loaded with excitatory synapses which help make nerve cells ‘fire,’” says Anderson, who is also an Assistant Professor of Neurology and Pathology at Harvard Medical School. “However, if these excess synapses are not adequately ‘pruned,’ they can overgrow, leading to excessive transmission of excitatory signals and the development of pathological conditions, including learning disabilities and autism in addition to epilepsy,” he adds.

Anderson has revealed that his study involved a genetically engineered mouse model, and and brain slice patch-clamp electrophysiology techniques.

He said that his team found that a mutant form of the LGI1 (leucine-rich glioma-inactivated 1) gene was preventing the normal brain development.

“The first clue was our discovery that LGI1 is not expressed until the exact time when excitatory synapses are matured. We subsequently learned that the mLGI1 gene was indeed prohibiting excitatory synapses from being adequately pruned, leading to an increased excitability of circuits in the brain which left it prone to excessive synchronous discharges that are characteristic of epilepsy,” said Anderson.

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is characterized by frequent partial seizures—two to five per month—that are associated with auditory or other sensory auras. Tonic-clonic seizures also occur in the majority of ADLTE patients, but are infrequent, developing only about once a year.

“These partial seizures can have a significant impact on a patient’s quality of life. Because patients can be disoriented and excessively tired following a seizure event, their day-to-day lives can sometimes be seriously disrupted. And when it comes to driving and other activities, there is still a real danger associated with this condition,” notes Anderson.

“One important reason to identify genetic causes of epilepsy is the hope that these discoveries will eventually lead to new therapies. By identifying this new pathway, we may have found a new target for future drug development,” he adds.

A research article describing Anderson’s study has been published in the journal Nature Medicine.

Source: http://timesofindia.indiatimes.com/life-style/health-fitness/health/Epilepsy-linked-to-disruption-of-brain-development/articleshow/4928534.cms

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Method may pave way for treatment

By Carolyn Y. Johnson | The Boston Globe

Scientists are trying a new approach to unravel the workings of the autistic brain: the neurological equivalent of banging a patient’s knee with a hammer to test reflexes.

Instead of a hammer, though, researchers are pressing a flat paddle against patients’ heads and creating a magnetic field that triggers brain cell activity.

As the quest to understand autism has grown more urgent, researchers have used brain scanners to peer into autistic minds, searched for faulty genes, and scrutinized the play of 1-year-olds.

The work has provided theories – but few concrete answers – about what goes awry to cause social isolation, repetitive behaviors, and communication problems that afflict an estimated one in 150 children with autism spectrum disorders. The hunt has focused on everything from “mirror neurons,” brain cells some re searchers think enable people to understand other’s actions and intentions, to an overgrowth of local connections in the brain.

Now a small but growing number of researchers see hope in a tool called transcranial magnetic stimulation, which lets scientists spark activity in specific areas of the brain and watch what happens to patients’ behavior. The technology may illuminate some of the biology behind the disease, and some specialists speculate it may one day offer a treatment.

“There’s a lot of mystery about autism – it’s not as if there’s a well-understood story of what’s going on at all, and there’s a huge variety of autism, too,” said John Gabrieli, a neuroscientist at Massachusetts Institute of Technology. Transcranial magnetic stimulation “is fantastic for identifying brain regions that are essential for specific mental functions. . . . I think if we can start to use it more systematically with autism, one could hope we’d understand a lot more about what’s going on.”

Gabrieli said he hopes to team up with researchers at Beth Israel Deaconess Medical Center who are already getting preliminary results with the technology, finding that autistic brains appear to be more malleable than those of other people.

Researchers at the Boston hospital’s Berenson-Allen Center for Noninvasive Brain Stimulation used rapid, repetitive stimulation to simulate what happens in the brain when people learn a new task. Then they gave a single pulse of stimulation and measured minute muscle twitches that told them how long people’s brains maintained connections formed by the initial stimulation.

In people with no evidence of autism, changes lasted about 30 minutes, on average. But in people on the autism spectrum, the initial stimulation caused brain changes that lasted much longer – on average an hour and a half.

“As they’re going through their world, their brains are changing their circuits much more and much longer,” said Lindsay Oberman, a postdoctoral researcher at Beth Israel Deaconess. “They’re making connections, just not breaking them at the same rate as normal people.”

That suggests to Oberman that important cognitive processes may be getting stuck on labyrinthine side roads.

Researchers in the laboratory are also investigating whether stimulating a specific area of the brain improves language skills.

John Elder Robison, 51, said he decided to participate in the experiments because it wasn’t until he reached adulthood that he was diagnosed with Asperger syndrome, a disease on the autism spectrum.

“I have a strong desire to do this to benefit people like me,” Robison said. “I knew how much I had struggled as a young person – not knowing, being called ‘retard’ or ‘freak.’ This might help young people.”

Use of transcranial magnetic stimulation to investigate autism is in its early days, but the technology is well-established. In the noninvasive procedure, a current travels through two loops in a figure-eight-shaped paddle, creating a changing magnetic field. The paddle is pressed against the patient’s head, and the changing field induces an electrical current in brain tissue.

Transcranial magnetic stimulation was approved by the US Food and Drug Administration as a depression treatment last fall. The main side effect is a risk of seizure, but the risk is low, researchers say, because years of research have provided insight into how to use the technology safely.

While such stimulation may turn out to be a useful tool in autism research, Michael Merzenich, emeritus professor at the University of California at San Francisco, cautioned that a limitation of the technology may be that so much has gone wrong in the autistic brain.

“Virtually any way you would probe it in detail, you’d quickly reveal abnormalities,” Merzenich said. “My question is, if I start poking around . . . it’s a pretty complex, multivariable mess that I’m poking. How likely is it that’s going to lead to great insight?”

Dr. Manuel Casanova, a neuroscientist at the University of Louisville, began using the technique on patients a few years ago.

Casanova was interested in groups of brain cells called minicolumns, which are abnormally small in autistic people and seem to lack what he calls an inhibitory “shower curtain” that prevents activity from spilling into the rest of the brain. His idea was to boost the shower curtain using the stimulation.

Casanova reported last year in the Journal of Autism and Developmental Disorders that when he used repetitive stimulation on 13 high-functioning people with autism spectrum disorder, the treatment seemed to improve synchronization between brain regions. The patients were also able to sit still longer, follow directions better, and reduce repetitive behaviors.

Initially, he paid for the research out of his own pocket, but last week he received gratifying validation – a grant from the National Institutes of Health to support his work over the next four years.

Dr. Marco Iacoboni, a psychiatry professor at the University of California at Los Angeles, recently submitted a grant proposing a study using the technique. He would like to use it to inhibit activity in a part of the brain that may be suppressing the activity of “mirror neurons” – brain cells that appear to be active both when a person moves and when the person watches someone move.

Robison, the Asperger patient, said he believes some of the experiments at Beth Israel Deaconess have helped him, and Oberman and colleagues have been encouraged by their attempts to use the tool as a treatment. But researchers embracing the tool also urge caution.

“These are just the very first steps – it’s the first man on the moon just collecting rocks and looking at the composition of the rocks,” Iacoboni said. “There is a very strong rationale for doing this; that’s why it’s promising. But people shouldn’t hope we’ve found anything yet.”

Source:  http://www.boston.com/news/local/massachusetts/articles/2009/06/08/magnetic_stimulation_helps_researchers_trigger_responses_in_autistic_brain/

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The Autism News English autism, autistic, Beth Israel Deaconess Medical Center, brain cell activity, English, John Gabrieli, Magnetic fields, Massachusetts Institute of Technology, neurological, neuroscientist, new approach, scientists, test reflexes, the Boston hospital's Berenson-Allen Center for Noninvasive Brain Stimulation

The Autism News | English

By Elizabeth Eaves | Forbes Magazine dated June 22, 2009 | Ideas & Opinions

What caused the explosion in autism diagnoses? Why are boys more affected by the disorder?

When Simon Baron-Cohen first worked with children with autism, the disorder was found in 4 out of 10,000. Today, not quite three decades on, the rate of diagnosis is 100 in 10,000. In a study published this month in the British Journal of Psychiatry, Baron-Cohen and colleagues estimate that the true incidence is 156.

When Robert Wright, the former chairman of nbc Universal and a cofounder of the advocacy group Autism Speaks, spoke recently in London, he compared autism with swine flu, which was affecting far fewer people yet being called a pandemic: Shouldn’t autism be getting the same kind of attention?

Scientists like Baron-Cohen, a professor of developmental psychopathology at Cambridge University and director of its Autism Research Centre, see that kind of talk as alarmist. “I don’t think it’s the right way to think about autism, as an epidemic,” he says, sitting in a room at the Chicago Hilton, where the 2009 International Meeting for Autism Research is taking place. He has reason to be wary of hyperbole and distortions. In 1998 British gastroenterologist Andrew Wakefield published a study in the Lancet linking autism to the vaccine for measles, mumps and rubella. The paper was based on only 12 subjects, and the theory has been debunked in much larger studies. Wakefield is being investigated by Britain’s General Medical Council for, among other things, misrepresenting his subjects’ medical records. But the vaccine theory lives on among parents who refuse to vaccinate their children, with public health consequences for the rest of the population.

One reason the myth survives, no doubt, is the mystery that still surrounds the disorder’s cause and apparent rise; another is the sadness families feel raising severely autistic children, who may never communicate much or live independently. Baron-Cohen has been the first to advance and test some groundbreaking ideas in the field. But as for what has caused the increase in reported cases, he doesn’t put undiscovered toxins at the top of the list of suspects. “A good part” of the rise, he says, can be explained by better diagnosis and an expanded definition of autism.

Since autism was first described in 1943, the definition has shifted. Doctors have come to agree that autism is characterized by poor social skills, communication difficulties and strong, narrow interests and repetitive behavior. Once upon a time it was understood as categorical: Either you were autistic or you weren’t. Starting in the late 1990s, Baron-Cohen advanced the idea of an autism spectrum on which everyone falls, just as we would fall on a spectrum of height. As he sees it, we’re all a little bit autistic. Indeed, many adults going through the Autism Spectrum Quotient questionnaire, a tool created by the Cambridge center, will recognize certain traits in themselves, like preferring to be alone, disliking spontaneity or easily remembering phone numbers. Today the notion of a spectrum is widely, though not universally, accepted in the field.

Studies of autism in twins encouraged scientists to look for a hereditary explanation. Today the strongest evidence supports a genetic theory, most likely with an additional environmental factor that interacts with the risk genes. In a study to be published later this year by Baron-Cohen and a former graduate student, Bhismadev Chakrabarti, the authors identify nine genes as being associated with autistic traits.

It was long observed that people with autism spectrum disorders had certain specialized skills–in particular, they tend to be good at systemizing and paying attention to detail. The same genes that make a person good in a systemizing occupation, like math, physics or engineering, may also contribute to autism, Baron-Cohen explains. This genetic understanding puts him at odds with parent support groups that speak of “curing” or “defeating” autism. Eradicating autism could mean eliminating genes from the gene pool that are probably key to such abilities as doing complex mathematics. Plus, he says, “at the [milder] Asperger end of that spectrum, many of those individuals don’t want to be cured. They just want to be recognized.”

An understanding of autism as hereditary led Baron-Cohen to put forward a theory that could help account for its increasing prevalence: assortative mating. This unproved hypothesis posits that strong systemizers are mating with one another more than they did before. That increase could be explained by the entrance of more women into the workforce. A computer engineer who would have once gone outside the profession to mate now finds a spouse in the same field, who is endowed with similar talents.

In 1997 Baron-Cohen’s center found that the fathers of autistic children were disproportionately represented in fields like engineering. Today he’s trying to look at the talents and occupations of mothers as well as fathers, but he’s meeting some resistance. He tried to set up a study of parents who were alumni of the Massachusetts Institute of Technology, where virtually everyone majors in the sciences. The university refused to cooperate. “We weren’t doing the study to say there’s something funny about MIT,” he says with a sigh. “It just would have been a very convenient sample.” Now he’s trying to set up a similar study using Cambridge alums.

As late as the 1960s autism was thought to be a result of bad parenting. The main proponent of that theory was the Chicago psychoanalyst Bruno Bettelheim (1903–90), who recommended that children with autism be removed from their families. Today Bettelheim is a reviled figure among parents of children with autism. “I keep looking for him as I walk around,” Baron-Cohen says. “I’m fascinated by how people work within the framework of the time. He probably thought he was being kind … and it led him to a form of practice which today just seems unthinkable.”

Fresh out of Oxford in 1981, Baron-Cohen taught in a tiny school north of London called Family Tree, where six teachers worked with six autistic children. On any given day, one child might approach and put his face inches from a teacher’s own, while another might take his clothes off in the park, neither with any self-consciousness. Baron-Cohen was fascinated and curious to learn more, and started studying autism as soon as he embarked on a Ph.D. at University College, London. His long attention to the disorder may account for some of his breakthroughs. “One of the key things about Simon is that he chose to focus on autism as a phenomenon from very early on,” says Chakrabarti, now a lecturer in psychology at the University of Reading. By contrast, many researchers first come at autism from a single discipline like genetics or neurology. Now a youthful-looking, sandy-haired 50, Baron-Cohen is married with three kids, the youngest a teenager. If his name sounds familiar, that may be because his first cousin is Sacha Baron Cohen, of Borat fame. “We’re very proud of him in the family,” he says.

Baron-Cohen is responsible for spreading the idea that the autistic brain is basically an extreme version of the male brain. He observed that people with autism were better at things for which men show more aptitude than women (like systemizing) and worse at things for which women show more aptitude than men (like empathizing). It’s noteworthy that boys are diagnosed with autism four times as often as girls. “There was this massive clue that nature was giving us that autism might be in some way sex-linked,” he says.

For a while, the notion that there might be sex differences in the brain was taboo; merely raising the question cost Larry Summers his job as president of Harvard. Now, though, the Cambridge center is about to use neuroimaging to determine whether typical sex differences in the brain are exaggerated in people with autism.

The Cambridge center’s most recent coup came from a study that began 12 years ago. Researchers obtained amniotic fluid from about 500 pregnant women and tested it for hormone levels, then tested their children every few years. In a study published this year, they revealed that the higher the fetal testosterone, the more autistic spectrum traits the child would later show.

“At this point in the history of autism research, there’s no way that you can say that any single factor is the cause. It’s just way too premature,” Baron-Cohen says, before leaving to take in more of the hundreds of presentations at the conference. “Science is quite a lot like what kids with autism do,” he says. “You know, you look for repeating patterns.”

Prevalence Of Autism

0.04% Rate of diagnosis in 1978.
1% Rate of diagnosis in 2008.
1.56% Estimated rate of prevalence today, including undiagnosed cases.

Sources: Autism and Asperger Syndrome (Oxford University Press, 2008); British Journal of Psychiatry.

Source of the article: http://www.forbes.com/forbes/2009/0622/simon-baron-cohen-autism-ideas-opinions.html

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