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Friday, December 27, 2013

Top Ten 2013 Advances in Autism Research

From Autism Speaks



December 18, 2013

Highlights from an unprecedented year in advancing diagnosis, prevention and treatment of autism and its associated medical conditions.

This year brought signs of a gratifying maturation in autism research. Beyond an unmistakable increase in the number of autism studies making headlines was a shift toward research that delivered concrete advances in the prevention, diagnosis and personalized treatment of autism and its associated medical conditions. This progress also reflected the growing appreciation that, for some individuals, autism is a whole-body disorder.

"This year has offered us plenty of exciting and relevant science stories to discuss, making it incredibly difficult to narrow down to a top ten," says Autism Speaks Chief Science Officer Rob Ring. "When it comes to scientific discovery in autism research, it just keeps getting better and better."

Here then, are Autism Speaks' Top Ten Advances in Autism Research 2013:


In July, the first results from Autism Speaks "10K Autism Genome Program" demonstrated the usefulness of whole genome sequencing for providing unprecedented guidance for the diagnosis and personalized treatment for autism and its associated medical conditions.


Researchers used high-tech eye tracking to discover a subtle but consistent decline in eye contact that begins around 2 months of age in babies who go on to develop autism. If confirmed, the finding would be the earliest biomarker of autism. It may also represent an opportunity for very early intervention that could improve the course of brain development, learning and social engagement.

Strong Evidence that Prenatal Folic Acid Can Reduce Autism Risk

In February, the Journal of the American Medical Association published the results of a large study showing that autism rates are lower among the children of women who take folic acid supplements in the weeks before and after conception. The findings suggest a safe and practical step women can take to reduce autism risk. However, the benefit may turn out to be restricted to women with propensities to low folic acid levels.

Gene Study of Neurodevelopmental Disorders Finds Overlap between Autism and Major Mental-Health Conditions; Potential for Common Treatments

In February, the results of the largest-ever genetic study of neurodevelopmental disorders and psychiatric illnesses revealed strong commonalities between autism and ADHD, bipolar disorder, depression and schizophrenia. The shared genes included two that balance calcium levels in brain cells, suggesting a common direction for the development of new treatments.

New Tools Enable Investigators to Track Activity of Autism-linked Genes

In November, the results of a large study on a diverse group of children with autism confirmed that they experience high rates of gastrointestinal symptoms. The study went further to associate GI distress with more-severe autism symptoms including social withdrawal and irritability. The findings lend strong support to Autism Speaks Autism Treatment Network guidelines urging doctors to look for and treat GI symptoms in children with autism.

"Optimal Outcomes" Rare but Real in Autism

In January, a landmark study confirmed that a small subset of children with autism entirely overcome their disabilities. Researchers documented that these children had significant autism symptoms when diagnosed and suggested that intensive early intervention and biological differences may have been crucial to their optimal outcomes.

Beyond Autism Genes: Epigenetic Differences in Identical Twins

By studying identical twins who differ in autism diagnosis or symptom severity, researchers found tell-tale clues showing how environmental influences may contribute to – or protect against – autism.

Autism, Long Genes and DNA Detanglers

In August, investigators reported a set of discoveries that linked autism to disruptions in very long genes and the enzymes that untangle them. The researchers have launched a search for chemicals that prevent these important enzymes (topoisomerases) from doing their job. Their discovery may also help explain why autism risk is higher among the children of older parents.

Large Study Supports GI Link to Problem Behaviors in Kids with Autism

In November, the results of a large study on a diverse group of children with autism confirmed that they experience high rates of gastrointestinal symptoms. The study went further to associate GI distress with more-severe autism symptoms including social withdrawal and irritability. The findings lend strong support to Autism Speaks Autism Treatment Network guidelines urging doctors to look for and treat GI symptoms in children with autism.

'Good' Bacteria Ease Autism-like Behaviors in Mouse Model

Researchers using a well-known mouse model of autism found that a probiotic known to relieve gut inflammation also improved social behavior while reducing repetitive behaviors and signs of anxiety. The study added support to the idea that intestinal inflammation can worsen or even cause autism symptoms in people. It opened the door to clinical trials that will administer the probiotic to children with autism and GI symptoms.

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