Blog - On SFARI

• Regression analysis

  

  Is regressive autism real?

  That is, do some children with autism develop normally for the first couple of years of their life, and then suddenly lose their ability to speak and socialize?

  That’s a controversial and highly charged question in the field — depending on how you define regression.

  There are dozens of studies looking at how to diagnose autism before the symptoms become obvious, usually at age 2 or 3 years old. Some of these studies, such as Yale University researcher Ami Klin’s eye tracking research, aim to detect subtle differences in a child as young as a few months old.

  Some clinicians also say that when they study the videotapes from an autistic child’s first birthday, they see telltale signs that the parent may have missed.

  Nonetheless, many parents and experts say regression is a true phenomenon. In the December issue of Neuropsychology Review, researcher Gerry A. Stefanatos estimates that up to a third of children with autism have the regressive form of the disorder.

  In his review, Stefanatos focuses more on the signs that a child has regressed — the child stops responding to his or her name, for example, and becomes prone to tantrums.

  He also emphasizes that it’s important to treat the disorder as soon as possible, so parents should consult a pediatrician as soon as they observe these symptoms, without chalking it as a manifestation of the ‘terrible twos’.

  That’s all sensible advice, and one that would merit little protest, but I’m not so sure about the characterization of regressive autism as a distinct disorder with differences from autism spectrum disorder. On that matter, I believe, the jury is still very much out.

  Posted on 16 December 2008 16:17:00 EST .:. 0 comments

• New chromosomal culprits

  

  The latest of many full genome scans of large groups of people with and without autism has identified two new chromosomal regions associated with the disorder. The findings were unveiled last week at the American Society of Human Genetics meeting in Philadelphia.

  The regions, one on chromosome 6 and one on chromosome 20, had never before been implicated in autism. The samples came from 800 families in the AGRE collection, a gene bank of thousands of families in which at least two children have autism.

  Researchers compared about half a million single-nucleotide markers between the autism and control genomes — a resolution much higher than previous attempts.

  As with the other relatively large regions of the genome that have been linked to autism, the next step in the research will be identifying candidate genes within the region, and then screening those genes for causal mutations, says lead author Dan Arking, an assistant professor at Johns Hopkins School of Medicine.

  Arking's team (which included some of the scientists behind the touted 16p linkage studies also found that those who carry a specific allele near the SEMA5A gene region are at a lower risk of being diagnosed with autism. In follow-up work in postmortem brain tissue for 30 individuals, the scientists found that SEMA5A expression is lower in samples from people with autism.

  The study highlights the two primary kinds of findings in autism genetics: relatively common genetic variants with small effects; and rare genetic variants with large effects.

  Posted on behalf of Virginia Hughes

  Posted on 20 November 2008 11:24:00 EST .:. 0 comments

• Onward to the capital

  

  Even as I type this, thousands of neuroscientists are descending on Washington D.C. for an annual event that is almost beyond description. An estimated 36,000 people are expected to attend Neuroscience 2008, this year’s meeting of the Society for Neuroscience, hobnob, listen to lectures, present posters and down drinks at the many social events.

  In case you’re among the few neuroscientists that isn’t going, we will be posting daily updates from the conference here on the website. Even if you are going, well, you already know how impossible it is to grasp more than a fraction of the conference’s talks, so you’ll want to visit us anyway.

  Our fearless reporters Virginia Hughes and Kelly Chi, and I will all be writing primarily about autism — from genetics to animal models and experimental therapies — but also about aspects of schizophrenia, about cognition and attention and about the molecular wiring of the brain as it relates to autism.

  Let the games begin…

  For all reports from the Society for Neuroscience annual meeting, click here.

  Posted on 14 November 2008 14:37:00 EST .:. 0 comments

• Strange play

  

  As early as 12 months of age, babies who later develop autism repeatedly spin and rotate their toys more than typically developing children, according to a new study. They are also more likely to glance sideways at objects or stare at them for long periods.

  In the U.S. the average age of a child being diagnosed with autism diagnosis is 3 years. But as many parents and clinicians know, signs of autism are often obvious much earlier.

  In this study, researchers at the University of California, Davis, M.I.N.D. institute studied 35 1-year-old ‘baby sibs’ — children whose siblings have already been diagnosed with autism and who are therefore considered at high risk of autism — and 31 typically developing controls.

  Of the 66, 9 went on to later be diagnosed with autism (including 1 from the control group) and, of those, 7 showed the distinctive play with toys, the researchers reported in the journal Autism.

  There’s some evidence that early intervention can alleviate the symptoms of autism, so this is good news, and could be another approach in the efforts to diagnose autism earlier. The researchers have already launched a larger five-year study to confirm the method’s usefulness.

  Posted on 11 November 2008 16:50:00 EST .:. 1 comment

• Older parents and autism

  

  First-born children of women older than 35 and men older than 40 are three times more likely to develop autism than later children of younger parents, according to a large epidemiological study in the United States.

  This is not the first study to make this connection: smaller epidemiological studies have found a link between older parents and greater risk of autism, schizophrenia and, most recently, bipolar disorder.

  For this study, published in the American Journal of Epidemiology, researchers scanned the records of 253,347 children born in 10 states — part of the federal Autism and Developmental Disabilities Monitoring Network — in 1994. Of these children, 1,251 were later diagnosed with autism.

  The researchers found that for every 10-year increase in the mother’s age, the risk of autism jumps up 20 percent; for men, every 10-year increase in age adds up to a 30 percent higher risk of autism in the child.

  It’s not entirely clear why this should be the case, but as men and women age, they are presumably more likely to acquire and pass on spontaneous mutations and chromosomal changes to their children.

  Intriguingly, the study also suggests that the risk of autism decreases with birth order. The researchers say the trend in Western countries for people to have the first child later in life, and to have fewer children — meaning first-borns are a greater proportion of children — may in part explain the rise in autism prevalence.

  Posted on 7 November 2008 14:09:00 EST .:. 0 comments

• Blame it on the rain

  

  Autism rates are higher in states where it rains more, according to a report that’s in newspapers everywhere today.

  Say what?!

  When you write about autism, and the many avenues scientists are exploring to pin down its cause, you get used to seeing all kinds of nutty theories bandied about. But this one really takes the cake.

  I’m particularly baffled because the research is published in a reasonable journal, the Archives of Pediatrics and Adolescent Medicine, one of the JAMA/Archives journals, and by scientists and ‘policy analysts’ from the more-than-reasonable Cornell University. Not that that makes it any less absurd.

  The researchers looked at annual rainfall for California, Oregon and Washington State between 1987 and 1999, and concluded that autism rates are higher when there is a higher rate of rainfall during the children’s first three years.

  They come up with all sorts of potential explanations: maybe the children watched more TV because they were indoors, or were more exposed to household chemicals, or maybe they didn’t get enough vitamin D — or chemicals “in the upper atmosphere that are transported to the surface by precipitation" are to blame.

  Or maybe, what they’re seeing is, as any novice scientist or reporter can tell you, a classic case of correlation — not the same thing, by a long shot, as cause.

  As one of my journalism colleagues pointed out, the accompanying editorial is delightfully called, “Do these results warrant publication?”

  I would have voted no.

  Posted on 4 November 2008 14:13:00 EST .:. 2 comments

• Rational beings

  

  One of the hallmarks of autism is a tendency to be somewhat emotionally detached. This is of course talked about as mostly a negative thing, but research published in the October 15 Journal of Neuroscience suggests there may be an upside.

  People with autism make rational decisions, relying more on careful thought and analysis than on gut instinct, according to British researchers.

  To prove their point, the researchers based their experiment on the ‘framing effect’, which basically means that how someone responds to a statement depends on how it is framed: for example, most people would rather hear that there is an 80 percent chance of surviving than that there is a 20 percent chance of dying.

  In their experiment, the researchers gave people £50 and then presented them with the same scenario, only worded differently.

  In the first scenario, the ‘gain frame’, participants were told they could either keep £20 or gamble, with a 40 percent chance of keeping the full £50 and a 60 percent chance of losing everything.

  The second scenario, the ‘loss frame’, was exactly the same, but this time the participants were told they could either lose £30 or gamble, with the same odds as above.

  What happened? You guessed it. Control participants are more likely to gamble when they are told they could lose £30, rather than keep £20. Those with autism, in contrast, are less likely to be influenced by the framing effect, and more likely to make their decision rationally.

  Of course, this same attention to detail is also the undoing of those with autism in social situations: to navigate complex social interactions, we rely on our gut instincts and emotions more than we realize.

  As a possible explanation, the researchers point to their 2006 Science study, which linked the framing effect to the amygdala, a key component of the emotional system. There is some evidence that the activity of the amygdala is affected in people with autism.

  Posted on 23 October 2008 16:38:00 EDT .:. 0 comments

• Science, not politics

  

  Last night’s debate was fascinating on several levels, but leaving the punditry to pundits, I was struck by the fact that, once again, both candidates brought up autism. Apart from AIDS, I don’t recall a single health issue that has received more attention from presidential candidates.

  Senator McCain has brought up autism before on the campaign trail, as have Senators Hillary Clinton and Barack Obama.

  When McCain said that Palin understands autism “better than most”, I thought at first that he had goofed, mixing up autism with Palin’s child’s Down’s syndrome. But the Anchorage Daily News reported Palin mentioning a nephew with autism in a 2006 gubernatorial debate.

  More to our interest here, however, it was Obama who called attention to the need for funding research. Obama is also the choice of many prominent scientists: to date, 65 Nobel laureates have thrown their support behind him; Harold Varmus, beloved former director of the National Institutes of Health, is one of his science advisors; and last week, Francis Collins, director of the National Health Genome Research Institute, officially endorsed him.

  I’m thrilled that after eight years of being marginalized and muffled by the Bush administration, scientists are making themselves heard. If you want more information before you make up your mind, here are a few excellent resources:

  Scientists and Engineers for America’s interactive map allows you to see where candidates stand on key issues

  Nature’s election special: note that although Obama’s campaign provided answers to Nature’s questions, McCain declined, and the magazine had to fill in with statements made elsewhere.

  Nature Medicine’s election special, focusing primarily on biomedical research, and including coverage of people and lobby groups with clout.

  Posted on 16 October 2008 16:32:00 EDT .:. 0 comments

• Tracking children's health

  

  One of the most ambitious research projects involving kids is the National Children’s Study, which aims to follow 100,000 children from birth to age 21. The idea is that by following these kids over time, researchers can study the effect of genes and the environment on all manner of diseases that manifest in childhood — including autism, learning disabilities, asthma, and diabetes.

  To study the effects of genetics and environment on early development, the researchers plan to collect genetic, biological, environmental information from pregnant women and, in some cases, women who are not yet pregnant, and the children they go on to have.

  This week the project, which was launched in 2004, added 27 new centers that, beginning in 2010, will recruit children for the study. Eventually, the study aims to have 40 centers, recruiting volunteers from 105 locations throughout the U.S.

  Because the numbers are so huge, the study is a terrific example of collaboration, bringing together federal agencies, including the National Institutes of Health and the Environmental Protection Agency, universities, hospitals and private companies.

  The children themselves will be a truly representative sample for the country, with recruits from “rural, urban, and suburban areas, from all income and educational levels, and from all racial groups," says Duane Alexander, director of the National Institute of Child Health and Development, one of the participating institutes.

  Posted on 7 October 2008 14:32:00 EDT .:. 1 comment

• Training emotions

  

  Children with autism typically love trains – and avoid faces. British researchers have combined these two details to create toy trains that bear human faces to help kids with autism read emotions.

  Individuals with autism are fascinated by the mechanical predictability of rotating wheels and spinning tops. The new program has eight of these beloved toy trains, trams, cable cars and chain-ferries, all grafted with real faces and emotions.

  In a series of 15 five-minute episodes, the Transporters DVD challenges children aged 2 to 8 years to identify whether the human faces are happy, sad, angry, afraid, excited, disgusted, surprised, tired, unfriendly, kind, sorry, proud, jealous, joking or ashamed.

  When a child answers correctly, the game rewards the child with animated wheels; an incorrect answer prompts the child to try again. Free copies of the DVD have already been distributed to 40,000 families in the U.K.

  In a preliminary assessment, children with autism who watched the DVD for 15 minutes each day for four weeks caught up with typically developing children of the same age in their performance on emotion recognition tasks, say the researchers, led by Simon Baron-Cohen.

  Posted on 30 September 2008 16:18:00 EDT .:. 1 comment