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Infants who develop autism show distinct brain connectivity

February 20, 2012 //
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The development of white matter tracts, the nerve bundles that join one brain region to another, is different in babies who go on to develop autism compared with those who do not, according to a new study.

Researchers scanned the brains of infant siblings of children with autism — who have an increased risk of developing the disorder themselves — several times during their first two years of life. The so-called ‘baby sibs’ who go on to receive a diagnosis of autism at 24 months of age have distinct brain patterns at 6 months and abnormal neural development from 6 to 24 months, according to the study. The results were published 17 February in the American Journal of Psychiatry.

“The story is that autism is an unfolding process, not something that happens in the third trimester and then is done,” says lead investigator Joseph Piven, professor of psychiatry at the University of North Carolina-Chapel Hill. “We see the brain changing over time in a dynamic way.”

Read more at…

SFARI, February 2012.

Categories 2012, Autism, Brain Science, Health and Medicine, News, SFARI

Robot Renaissance

February 17, 2012 //
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Just over a year ago, I wrote about a handful of research groups creating robots that can engage children who have autism using speech, facial expressions or body movements. These ‘social’ bots ranged from a miniature dinosaur and a dancing yellow snowman to several sophisticated, full-size humanoids.

The eclectic collection now includes a boy that can sense when it’s touched, a floating female head that expresses a wide range of emotions and a low-cost fuzzy penguin that can track a child’s eye movements. Descriptions of all three appear in the latest conference proceedings of the IEEE Engineering in Medicine and Biology Society.

Read more at…

SFARI, February 2012.

Categories 2012, Autism, Blogging, Brain Science, Business and Technology, Health and Medicine, SFARI

Study Boosts ‘Multi-Hit’ Gene Model of Autism

February 14, 2012 //
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By screening the genomes of hundreds of people with autism and analyzing the effect of newly identified mutations in cultured neurons, researchers have clarified the disorder’s complex link to a gene called SHANK2.

Functional mutations in SHANK2 crop up about twice as often in individuals with autism as in typical controls, according to a study published 9 February in PLoS Genetics.

The SHANK2 protein buttresses the synapse, or junction between neurons. The new findings add to already robust evidence from genetic studies and animal models that synaptic proteins — notably SHANK3, neurexins and neuroligins — are important in autism, the researchers say.

But a more surprising finding helps to explain why not everyone who has a SHANK2 mutation has autism. The three individuals with autism known to carry SHANK2 deletions also carry rare deletions or duplications — so-called copy number variations, or CNVs — in an autism-linked segment of chromosome 15. This supports the idea that autism arises not from a single genetic glitch, but from multiple hits to the genome.

“I think many people are still thinking about the genome like the old black-and-white movies from the 1950s: The good guy was in white, the bad guy was in black, and everybody knew what was going on,” says lead investigator Thomas Bourgeron, professor of genetics at the University of Paris Diderot.

But studies like this show that a ‘bad’ genetic glitch isn’t necessarily the only bad guy.

“When we find a single mutation in a patient with autism, we can’t say that we’re done,” Bourgeron says. “We still have to work on the whole genome of these patients to understand exactly what’s going on.”

Read more at…

SFARI, February 2012.

Categories 2012, Autism, Genetics, Health and Medicine, News, SFARI

Autism in Africa

February 7, 2012 //
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Mental illness is the leading cause of disability in the world, according to the World Health Organization. Even more troubling: Four out of five people with psychiatric disorders live in developing countries, where they have few opportunities for treatment.

That’s certainly the case for autism in Africa, though, like in other resource-poor areas of the world, awareness is beginning to improve. In the past few years, a handful of researchers in various African countries have investigated children with autism. A new review of these reports finds that these children tend to be diagnosed much later than their counterparts in the U.S., and are more likely to be nonverbal.

The review, published in the December issue of the South African Journal of Psychiatry, analyzes six studies: three from Nigeria, the most populous country in Africa, and one each from Tunisia, Tanzania and Kenya.

Read more at…

SFARI, February 2012.

Categories 2012, Autism, Blogging, Health and Medicine, SFARI

Video Insights

January 20, 2012 //
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‘Behavioral intervention’ is one of those broad terms that I suspect many people recognize but don’t really understand. I’m one of them.

The high-level definition: It’s a common and time-intensive treatment for autism, often based on applied behavioral analysis, an approach in which bad behaviors are discouraged and positive behaviors reinforced.

But it’s not that simple. Behavioral interventions take many forms — discrete trial training, pivotal response training and the Picture Exchange Communication System, to name just a few. The differences among these are subtle and not easy to describe.

Happily, a new online resource of definitions and short video clips helps distinguish them.

Read more at…

SFARI, January 2012.

Categories 2012, Autism, Blogging, Education, SFARI

Love Story

January 17, 2012 //
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As anyone who’s read Shakespeare, seen the Twilight movies or trudged through junior high school knows, there is no social interaction more maddeningly complex than romantic love.

So someone with autism, who presumably lacks the ability to understand others’ thoughts and feelings, couldn’t possibly manage a meaningful relationship. Right?

In fact, many people with autism forge deep romantic relationships, as I learned last month from an engaging New York Times profile of two teenagers with Asperger syndrome.

The couple, Kirsten and Jack, live together and are in love — and they’re not all that unusual, according to the article. There are apparently large online communities devoted to helping people with Asperger syndrome find dates and improve their intimate relationships.

Read more at…

SFARI, January 2012.

Categories 2012, Autism, Blogging, Education, Health and Medicine, SFARI

Movement During Brain Scans May Lead to Spurious Patterns

January 16, 2012 //
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Head movements taint the results of many brain imaging studies, particularly those analyzing children or individuals with autism. That’s the sobering message from two independent studies published over the past few months in NeuroImage.

Both reports analyze so-called ‘resting-state functional connectivity’ studies: the increasingly popular five-minute brain scans that measure synchrony between different regions when the brain is at rest.

Together, they call into question high-profile findings published in the past couple of years showing that short-range connections in the brain start off strong in children and weaken over the course of typical development, while long-range connections begin weak in children and strengthen over time.

In a study published 14 October, researchers reanalyzed data from several of their own functional connectivity studies after correcting for head motion and found that this maturation pattern usually disappears once head motion is taken into account.

“It really, really, really sucks. My favorite result of the last five years is an artifact,” says lead investigator Steve Petersen, professor of cognitive neuroscience at Washington University in St. Louis.

It’s unclear how many published results head motion has skewed, and whether this changes the bottom-line conclusions. But many researchers are concerned.

“It’s going to impact some findings with regard to the robustness, but whether it completely wipes out the findings that are out there is another question,” says Damien Fair, assistant professor of behavioral neuroscience and psychiatry at Oregon Health and Science University. “It is going to require folks to reanalyze their data, controlling for these new ways of examining motion.”

Read more at…

SFARI, January 2012.

Categories 2012, Brain Science, Business and Technology, Health and Medicine, News, SFARI

Funding Fears Prevent Researchers from Sharing Mice

January 9, 2012 //
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Larry Reiter studies the chromosomal region 15q11-13, one of the genomic hotspots most firmly linked to autism. At his small lab at the University of Tennessee Health Science Center in Memphis, Reiter has sometimes relied on mutant mice — such as animals missing UBE3A, a key gene in the region — engineered by other groups for his experiments1.

But in the past couple of years, as competition has intensified in autism research, Reiter has had trouble gaining access to new mouse models. Frustrated, he has decided to focus instead on fruit flies.

Reiter says he worries that others might be similarly discouraged. “People will shy away from working in this area, because they can’t get the mouse to work on,” he says.

On paper, most funding organizations, such as the National Institutes of Health (NIH) and SFARI — this website’s parent organization — as well as most scientific journals stipulate that once researchers publish details of a model animal, they must make the animals available to other labs (see list).

“Failure to comply with the sharing plan may be carefully considered in future funding decisions for the investigator and their institution,” says J.P. Kim, director of the Division of Extramural Inventions and Technology Resources within the NIH Office of Extramural Research.

In practice, however, many researchers intentionally delay sharing or don’t share at all.

“It’s sort of the ugly secret,” Reiter says. “There is a long and proud tradition in the mouse field of holding on to your mouse, sometimes for 20 years.”

Read more at…

SFARI, January 2012.

Categories 2012, Autism, Brain Science, Business and Technology, Health and Medicine, News, Politics, SFARI

Book Review: Autism’s Twisted Immune Links, Untangled

January 2, 2012 //
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Julius Wagner-Jauregg treated several men with psychosis by exposing them to malaria, and won a Nobel Prize for the work.

In the summer of 1917, an Austrian doctor named Julius Wagner-Jauregg gave a man with advanced symptoms of syphilis, including psychotic episodes, a very peculiar treatment: malaria.

The parasitic infection causes fever, and Wagner-Jauregg had a theory that fever treatment, or ‘pyrotherapy,’ could cure psychosis. The doctor injected the man with blood drawn from a soldier with malaria. Within weeks, as expected, this brought on episodes of fever. After the sixth fever, the man’s psychotic fits ended, and he eventually recovered completely from both syphilis and malaria. Wagner-Jauregg repeated the experiment on nine more men with psychosis, and six of them improved.

This marked the first time that scientists had identified a physical treatment for a mental disorder — a feat that earned Wagner-Jauregg a Nobel Prize. To this day, scientists don’t know the mechanisms underlying his success.

Despite a century-long history, we rarely hear about the link between the immune system and mental illness. But the science behind it is rich and varied — from massive epidemiological studies of twins and pregnant women, to the screening of immune molecules in amniotic fluid and postmortem studies of brain inflammation.

For the non-expert, this field can be more intimidating than a box of jumbled Christmas decorations. In his new book, Infectious Behavior: Brain-Immune Connections in Autism, Schizophrenia, and Depression, biologist Paul Patterson nimbly untangles the strings of lights.

Read more at…

SFARI, January 2012.

Categories 2012, Art and Music, Autism, Health and Medicine, History, Reviews, SFARI
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