Autism Speaks releases its annual Top Ten list of the most significant achievements in autism research.
Autism Speaks, the world’s largest autism science and advocacy organization, has released its list of the 10 most significant science achievements in autism research for 2011.
“Not only has the research community continued to make significant progress towards effective treatments, 2011 offered some game-changing discoveries which help us understand underlying causes of ASD,” explained Autism Speaks Chief Science Officer Geraldine Dawson, Ph.D., in a release. “Some of these discoveries will have direct and immediate impact on quality of life of people with autism.”
With input from Autism Speaks' Scientific Advisory Committee (SAC), Autism Speaks science staff culled through thousands of publications to arrive at these choices. “These outstanding scientific advances are changing the way we think about autism and its causes,” said SAC member Gary Goldstein, M.D., president and chief executive officer of the Kennedy Krieger Institute. “From the game-changing twin study to the emerging clues on environmental risk factors, these studies highlight the important role of gene-environmental interactions in autism.”
This year’s highlights also reflect discoveries which advance translational research – the science of designing drugs to address core symptoms of autism. Research in 2011 also delivered evidence that may yield immediate benefits, that adequate folic acid around the time of conception may lower autism risk, and the validation of a method for screening at one year that may enable earlier intervention to improve children’s outcomes. An international study from South Korea not only found a much higher prevalence of ASD in schoolchildren by using a community screening method – 1 in 38 – but provides evidence that community screening elsewhere may yield much higher prevalence rates than would be found in standard surveys of medical records.
In no particular order, here are the highlights deemed most significant by Autism Speaks for 2011:
“It’s More than Just Genes”
Early environment shared by twins contributes to autism risk
For years, scientists have been following twins to help determine the contributions of genetic and non-genetic factors in the development of autism. But until this year, only three small autism twin studies, with just 66 twin pairs total, had been completed. Together they suggested that autism’s development stemmed almost entirely from inherited genes.
“Population Screening Reveals Dramatically Higher Autism Rates”
South Korean study suggests many missed diagnoses in general population
A South Korean study that directly screened schoolchildren for autism spectrum disorder (ASD) revealed a prevalence of 1 in 38 children, or 2.6 percent. Two-thirds of the affected children were in mainstream classrooms, previously undiagnosed and receiving no services.
“Baby Siblings at Risk”
Autism recurs in families more often than previously thought; underscores importance of early screening
Many parents of children with autism want to know the likelihood of having another child on the spectrum. Knowing that younger siblings are at high risk can promote earlier screening, diagnosis and therapy, which may improve outcomes.
“De Novo Genetic Changes Provide New Clues for Autism”
Four studies show spontaneous mutations in DNA may contribute substantially to autism occurrence
This year, four separate studies shed new light and confirmed earlier findings that in some – perhaps many – cases, genetic mutations associated with autism arise in an egg or sperm or very early in embryonic development. As such, they are not present in the genetic makeup of either parent. Together, the four studies identify hundreds of places in the human genome where spontaneous, or “de novo,” mutations could increase the risk of ASD, possibly by altering early brain development.
“Different Forms of Autism Share Striking Brain Similarities”
Atypical patterns of brain gene expression appear to be shared by those across the autism spectrum
As its name suggests, autism spectrum disorder (ASD) is known for its broad range, or spectrum, of outcomes – from profoundly disabled to highly but “differently” functional. Recent years have likewise revealed a diversity of genes that predispose to the development of ASD.
“Prenatal Vitamins Before and After Conception May Decrease Autism Risk”
Study bolsters idea that low folic acid may increase risk in those with genetic vulnerabilities
This year brought evidence that taking prenatal vitamins during the months before and after conception may lower the risk of having a child with autism spectrum disorder (ASD) – at least if the mother or child carries certain genes that increase susceptibility to autism. The study appeared in the July issue of the journal Epidemiology.
“Gene Knockout Mouse May Offer Leap Forward in Autism Animal Models”
New mouse model exhibits all core autism traits; may offer advantages for testing helpful medicines
This September, scientists at University of California, Los Angeles, debuted a new mouse that may represent a more useful animal model for studying autism spectrum disorder (ASD) and testing potential treatments. The mouse shows more behavioral and biological similarities to people with ASD than do most previous mouse models. It also responds to a drug (risperidone) already approved for treating some symptoms of ASD. This suggests that the mice may be particularly suited for testing promising new medicines aimed at relieving autism’s most disabling symptoms.
“Tweaking Electrical Activity in the Brain Impairs and Restores Mouse Social Behaviors”
Researchers pioneer technique to test how changes in brain activity may produce autism symptoms
Researchers altered the social behavior of mice by using light to manipulate electrical activity in a brain region involved in learning and socializing. The study, published this fall in Nature, bolsters the theory that autism may stem from an imbalance in the natural signals that excite or dampen activity within the brain. The study also offers a new approach to creating animal models of autism – crucial for testing promising medicines that might relieve disabling symptoms.
“More Evidence Linking Immune System to Some Forms of Autism”
Children with regressive forms of autism show greatest signs of ongoing inflammation
In January, researchers at the University of California, Davis, reported evidence that many children with autism spectrum disorder (ASD) have signs of ongoing inflammation. They found levels of inflammatory markers called cytokines to be higher in children with autism than in those who did not have the disorder. Further analysis showed that the increased levels of cytokines occurred primarily in children who had a regressive form of autism. Regression refers to a loss of developmental skills such as language and sociability after a period of seemingly normal early development.
“Earlier Autism Screening Shows Promise”
Brief parent questionnaire enables pediatricians to screen for autism at one-year well-baby check up
Early detection of autism allows for early intervention with behavior therapies that can improve outcomes. Current American Academy of Pediatrics guidelines call for screening all toddlers at 18 and 24 months, the age at which existing screening methods are best able to identify children with autism. Physicians have lacked validated autism screens for younger children – until now.
To read any of the articles in their entirety, visit the Autism Speaks website.
Image: Wikimedia Commons
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