NEW YORK, N.Y. (December 18, 2013) Each year Autism Speaks, the world's leading autism science and advocacy organization, asks its science leadership and scientific advisory committee to consider the hundreds of studies that have been reported on this year in the organization's news column. From these, they selected the ten advances in autism research they saw as the most significant in 2013.
The year 2013 brought a number of advances in autism research. Many of the year's most important advances used new technologies and built on the foundation of knowledge established by years of investment in basic research.
Increasingly, there has been a shift toward research projects 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," said Autism Speaks Chief Science Officer Rob Ring. "When it comes to scientific discovery in autism research, it just keeps getting better and better."
Here are Autism Speaks' Top Ten Advances in Autism Research 2013:
- Whole Genome Sequencing Advances Autism Diagnosis and Personalized Care
In July, the first results from Autism Speaks "10K Autism Genomes 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 Identify Earliest Known Sign of Autism; Potential Window for Very Early Intervention
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 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, two research teams separately reported studies that help pinpoint specific periods in brain development when genetic mutations can converge to increase risk for autism. Their research uncovered surprising commonalities in how many autism-linked genes affect a small handful of brain pathways in key areas, suggesting important new targets for future treatments.
- "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. And it opened the door to clinical trials that will administer the probiotic to children with autism and GI symptoms.
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. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children3
. Researchers Find Gene Mutations That May Be a Key to Autism4
. Pregnancy Length May Influence Severity of Autism5
. Children Born to Obese Moms May Face Higher Autism Risk: Study6
. Online Tool Could Diagnose Autism Quickly, Developers Say7
. Autism by the numbers: Yale researchers examine impact of new diagnostic criteria8
. In Mice, Drug Reverses Symptoms of Condition Linked to Autism 9
. Study of half siblings provides genetic clues to autism10
. Genes Associated With Autism Also Related to Schizophrenia11
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