Innovative Approach Affords Researchers Clearer View Of Autism

Science Daily — Using new technology and a unique approach, Binghamton University researchers are hoping to help children with autism spectrum disorders (ASD) deal with their most common and problematic areas of deficit - social and life skills.

Raymond Romancyzk, director of Binghamton University's Institute for Child Development, is heading up an intensive research project to learn how children - with and without autism - interact with the world around them. Using a combination of a state-of-the-art eye tracking system, miniaturized psychophysiological monitoring and multiple computers for high-speed processing, Romancyzk and his team are able to ask questions that could help answer how individuals with autism process information and stimuli from the world around them.

The team is using a tracking system that doesn't require the subject to wear a tracking device. Instead a video camera, built into a small desk observes a child. First, reference points are established by having the child watch a short animation, and with the help of a computer, the system overlays the position of a child's eyes onto a second video image of the child's field of vision. While the tracking systems observes the child's face, the eyes are located in the video image and computers record further eye movement.

This allows the team to see where and for exactly how long and where the child is looking, such as at faces, objects, and actions, either live or on video, and permits measurement of an index of physiological anxiety, and the more standard measurement of affect, performance, and behavior. The fact that children don't have any physical contact with the eye tracking system and don't have to wear any special apparatus makes it a great tool even with very young children, whether they have autism or not.

Gathering data from "typical' children will help researchers better distinguish where the differences between non-autistic children and children with autism. The new technology is enabling researchers to ask questions that may have far-reaching implications for educational and clinical approaches for autism.

"Part of the reason for this elaborate scheme is we've also been doing some research on how adults interact with children with autism, how they perceive what they think is going on versus what the child is actually doing," said Romanczyk. "This ties into the subtleties of social interaction that we take for granted. You look at someone and you can tell by their body posture, their gestures, tone of voice, eye gaze and so on, what's being communicated. With children with autism, it's more difficult to do."

The Binghamton University laboratory is the first to achieve simultaneous non-invasive measurement of multiple variables within the full range of individuals with ASD. To support their on-going research efforts, Romancyzk's team recently received funding through the Organization for Autism Research. One aspect of this grant will be to develop a parent-administered assessment of the child's social deficits. The assessment will be validated with the more comprehensive laboratory assessment process, and specific treatment strategies tailored to each child with severe social interaction deficits will be developed based upon the parental and comprehensive laboratory assessments.

Note: This story has been adapted from a news release issued by Binghamton University.

Experts Question Prevalent Stereotypes About Autism

Science Daily — 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."

Note: This story has been adapted from a news release issued by University of Wisconsin-Madison.

Utah Researchers Confirm Chromosome May Harbor Autism Gene

Science Daily — Using technology that allows DNA from thousands of genes to be collected and surveyed on a 3 x 1½-inch chip, University of Utah medical researchers have confirmed that a region on a single chromosome probably harbors a gene that causes autism. The researchers at the U School of Medicine made the finding by tracing variations in the DNA of an extended Utah family that has a high occurrence of the disorder and whose members are descended from one couple.

As part of the study, the researchers also ruled out one gene that appeared to be a good candidate for being linked to autism. They're now looking at other genes for a connection to the disorder.

Published in Human Heredity online, the study is part of the Utah Autism Research Project. The researchers are interested in finding more families with a history of autism to join the study.

The just-published research confirms Finnish studies of families that linked autism to the same region on chromosome 3, according to principal author Hilary Coon, Ph.D., research associate professor of psychiatry. In fact, the results of the U of U research were surprisingly similar to the Finnish studies, Coon said.

"It was remarkable to confirm the Finnish studies," she said. "Our results were so close to their evidence, we thought it was important."

Autism is a behavioral disorder that strikes before age 3 and is characterized by impaired ability in social interactions and communication. Those with autism also display repetitive behaviors and interests.

The study involved 31 members of a family of Northern European ancestry, seven of whom have autism or an autism-related disorder. The family members are part of the Utah Population Database, a computerized set of the genealogies of 170,000 Utah families comprising 1.6 million people. Information on some families goes back to the state's pioneer founders.

The researchers used a gene chip similar to a microarray to search for genetic markers of autism.

They used a coated glass chip from Affymetrix, Inc. This chip has 10,000 short segments of DNA with known gene sequence variations, called single nucleotide polymorphisms (SNPs), attached to 3/8 by 3/8-inch area. The DNA strands of the family members were broken up and then bonded to the DNA on the chip, allowing researchers to compare the variations in the SNPs of the different DNA on an extremely fine scale.

The chance of the same variants of SNPs in a particular region on a chromosome being passed through several generations from a founding couple to multiple affected family members is slight. When such identical blocks of SNPs are found, the chromosomal region often is a good candidate for being linked to a disease.

Other studies, including the Finnish ones, have found a high degree of evidence linking chromosome 3 to autism, so Coon and the other U researchers began their search on that chromosome. The first region of the chromosome they looked at contained 106 SNPs, 70 of which strongly indicated a gene in that region being linked to autism.

One gene, FXR1, appeared to be a likely candidate for a link to autism. FXR1 is similar to the X-chromosome Fragile X gene, FMR1. Mutations in FMR1 cause Fragile X Syndrome, an inherited condition that can cause mental impairments ranging from learning disabilities to severe cognitive problems. Fragile X syndrome has been shown to overlap with autism, and because FXR1 is similar to the gene that causes the syndrome, U researchers suspected FXR1 might be linked to autism. But after analyzing the entire coding sequence of FXR1, the researchers found no alterations in the gene likely to contribute to autism.

Based on statistical evidence, they're now looking at other genes. But evidence that a gene on a particular region of chromosome 3 is linked to the disorder doesn't preclude other genes from being a cause of autism, according to Coon. All in all, the researchers have a daunting search ahead of them.

"We're just looking for the needle in the haystack," Coon said.

Along with the original family, the U researchers are studying two more families with autism in some members, and they'd like to find others in which the disorder occurs. Large and small families with individual or multiple cases of autism are welcome to join. Those interested can call (801) 585-9098.

Other authors of the study are: Nori Matsunami, Jeff Stevens, Judith S. Miller, Ph.D, assistant professor of psychiatry, and Carmen Pingree, all with the Neurodevelopmental Genetics Project in the Department of Psychiatry; Nicola J. Camp, Ph.D., assistant professor of medical informatics; Alun Thomas, Ph.D., professor of medical informatics; Janet E. Lainhart, M.D., associate professor of psychiatry; Mark F. Leppert, professor and chair of Human Genetics; and William M. McMahon, M.D., professor of psychiatry and principal investigator of the Utah Autism Research Project.

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The University of Utah Health Sciences Center is internationally regarded for its research and clinical expertise in the health sciences. Through its four major colleges --the School of Medicine; College of Pharmacy; College of Nursing; and College of Health--the Health Sciences Center conducts leading-edge research in cancer, genetics, pharmaceutical sciences, and numerous other areas of medicine. The Health Sciences Center also is the major training ground for Utah's physicians, pharmacists, nurses, therapists, and other health-care professionals.

Note: This story has been adapted from a news release issued by University of Utah Health Sciences Center.