Archives for the month of: May, 2010

Chromosomal microarray analysis (CMA), which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, a consortium of clinical geneticists recommends in the 14 May American Journal of Human Genetics.

The recommendation comes on the heels of an April Pediatrics study that found the test is three times more effective at spotting autism variants than are standard clinical methods.

Most clinics rely either on karyotyping — which involves looking at chromosomes under a microscope for gross irregularities — or testing for fragile X syndrome, the most common inherited form of autism, by analyzing the FMR1 gene on the X chromosome.

Because these measures only catch the most obvious genetic problems, however, they produce positive results in only about five percent of children tested.

CMA uses gene chips to pick up more subtle genetic mutations across the genome, making it more likely that abnormalities will be found, experts say.

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SFARI, May 2010.

Many years after completing the Beagle voyage, crafting the theory of natural selection and writing the most famous scientific tome of all time, Charles Darwin took up psychology.

In fact, Darwin performed what may be the world’s first study of how people interpret and understand the emotions of others, according to a paper published in the April issue of the Journal of the History of the Neurosciences.

The experiment originated from a disagreement between Darwin and French neurologist G.B.A Duchenne. Duchenne believed that every emotion expressed on a person’s face is created by a separate muscle. To support this, he went about the grim task of electrically stimulating participants’ facial muscles and photographing the resulting expression, ultimately producing a set of 65 different plates.

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SFARI, May 2010.

Researchers can reliably identify individuals with autism by looking at the expression pattern of a set of genes in cultured blood cells, according to a poster presented Friday at the IMFAR 2010 conference in Philadelphia.

If the method can be validated in a larger and more diverse sample, it may lead to a useful diagnostic test, researchers say.

The current standard for autism diagnosis, a thorough behavioral assessment, has several disadvantages, notes lead investigator Valerie Hu, professor of biochemistry and molecular biology at George Washington University. For instance, children may not show the full extent of their behavioral oddities on the test day, and their behavior may change over time.

“We’re aiming for a more objective, molecular diagnosis, if possible,” Hu says. “This is not it, but it’s a start.”

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SFARI, May 2010.

Children who have autism and their healthy siblings share patterns of brain activity that are different than those seen in children with no family history of the disorder, according to unpublished research presented Thursday at the IMFAR 2010 conference in Philadelphia.

Because the siblings do not show even mild autistic behaviors, the brain activity represents a useful ‘endophenotype’ — a quantifiable trait that arises from carrying autism risk genes, rather than as the result of having the disorder, the researchers say.

“We were stunned that we could find something out about the brain that seems to not be observable with any of your standard clinical tools,” says lead investigator Kevin Pelphrey, associate professor of child psychiatry at the Yale Child Study Center.

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SFARI, May 2010.

Brain imaging reveals distinct signatures in the language circuits of young toddlers with autism while they sleep, according to unpublished data presented yesterday at the IMFAR 2010 meeting in Philadelphia.

When sleeping toddlers with autism hear language, they show more activity in the right superior temporal gyrus, a major hub for language processing, the researchers found. This is strikingly different from healthy controls, who show more activity in this region on the left side of the brain. In the healthy adult brain, grammar and vocabulary are processed mainly in the left side of the brain.

Although the patterns in children change slightly over time, left-hemisphere dominance is always greater in healthy children than in children with autism between ages 1 and 4, says Lisa Eyler, assistant adjunct professor of psychiatry at the University of California, San Diego, who presented the work. “This could be used as a sensitive, brain-based biomarker to use as an early warning sign of autism,” she says.

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SFARI, May 2010.

Adolescents with autism can gauge the direction of moving objects just as well as healthy controls can, but their confidence in their visual ability is sometimes misplaced, according to unpublished data presented yesterday at the IMFAR 2010 conference in Philadelphia.

The results suggest that people with autism have trouble not with perceiving motion, but with using that information to make decisions, the researchers say.

Studies of motion perception often use animated dots, some fraction of which are moving in the same direction. Healthy people can pick out this so-called ‘coherent motion’ when about 10 percent of the dots move in the same direction. Previous work suggested that people with autism need about three times as many dots to see the ‘hidden’ movement.

Richard Krauzlis and colleagues at the Salk Institute in La Jolla, California, used the same test, but with a twist.

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SFARI, May 2010.

How interested a child with autism is in a social scene can be determined in the blink of an eye — literally.

That was the message from scientists who yesterday presented a new method for measuring blink rate during visual perception tasks at the IMFAR 2010 conference in Philadelphia.

Eye-tracking studies of children with autism have shown that they view the world in unusual ways. For example, when they look at a face, toddlers with autism as young as 15 months tend to spend more time looking at the mouth or other peripheral features, rather than at the eyes.

Just because these children look at a particular spot does not mean they think it’s important, however.

“We wanted to develop a measure that would allow us to quantify, on a moment-by-moment basis, how engaged a person is in what they’re attending to,” says Sarah Shultz, a graduate student in the laboratory of Ami Klin at the Yale Child Study Center.

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SFARI, May 2010.

Children with Williams syndrome — a rare genetic disorder that leads to mental retardation and overt friendliness — hold stereotypes based on gender, but not race, according to a report published in April in Current Biology.

Because behavioral and brain imaging studies have shown that individuals with Williams syndrome don’t show fear when appropriate — such as when they see an angry face — the study supports the controversial idea that racial stereotypes are based partly on fear, researchers say.

Scientists have long debated about whether stereotypes — which are often unconscious and immediate, and arise in children as young as 3 years — have evolutionary origins, or are cultural constructs.

“We have a very bad understanding of how our stereotypes originate, but I think this paper has made a really significant advance in this,” notes Uta Frith, emeritus professor of cognitive development at University College London, who was not involved in the work.

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SFARI, May 2010.

Among animal models of autism, the mouse reigns supreme: scientists have manipulated dozens of autism risk genes in the furry critters.

But the biggest findings in autism may well come from tinier brains.

In a review published 30 March in Molecular Psychiatry, a group of Australian researchers argues that flies, bees, worms and fish have much to offer psychiatric research.

Even the most primitive nervous systems share some important features with ours. Synapses in the worm Caenorhabditis elegans, for instance, relay chemical messages using the same neurotransmitters we do. The layout of various brain regions in humans and zebrafish is also remarkably similar.

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SFARI, May 2010.

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