I’ve been reading news reports that it might be possible to detect autism by watching how much a 1-year-old focuses on a speaker’s mouth. Is this true?
In recent days, you may have read media stories about research showing that typically developing babies tend to switch from eye gazing to lip reading when first learning to talk, but then switch back to focusing primarily on a speaker’s eyes by 12 months. The research report appears online this week in the Proceedings of the National Academy of Sciences.
In reporting their results, developmental psychologist David Lewkowicz and doctoral student Amy Hansen-Tift, of Florida Atlantic University, suggest that this shift in focus may be different for infants who have autism spectrum disorder (ASD) or are at risk for developing it. Taking this idea a step further, they propose that paying attention to how babies shift their focus during their first year of life might help identify infants at risk for ASD – perhaps before other obvious symptoms emerge. To back their idea, they cite previous research suggesting that 2-year-olds with autism tend to look mostly at the mouths of those speaking to them, while typically developing 2-year-olds focus mostly on eyes.
It’s an intuitively appealing idea. But in truth, past studies have not consistently supported this notion that children with ASD focus less on eyes and more on mouths.
It is true that children with autism tend to pay less attention to social actions such as expressions. However, it’s possible that children with autism, like typical children, show a similar pattern of paying more attention to the mouth when they are learning language.
Given that language delays are common among children with autism, one would predict that this language-acquisition period might be prolonged. In addition one would expect that mouth-versus-eyes gaze patterns would vary among children with ASD depending on each child’s level of language skill.
Fortunately, while we don’t yet know whether eye gaze is a reliable predictor of ASD, research solidly supports the usefulness of other signs for screening toddlers. The American Academy of Pediatrics (AAP) recommends that all children receive autism screening at 18 and 24 months of age. One of the AAP’s recommended screening tools is the Modified Checklist for Toddlers, or M-CHAT, which you can access on our website, here. Please also see our Learn the Signs resource page.
Meanwhile, Autism Speaks continues to fund a wealth of research on early screening and diagnosis because evidence suggests that early intervention improves outcomes. You can explore these and other Autism Speaks studies here. This research – like all the resources Autism Speaks develops and offers – is made possible by our families and supporters. Thank you for your support.
For more research news and perspective, please visit our science page.
If you’ve been following autism research in recent years, you have probably read—many times—that familial, or inherited, risk is seldom the whole picture. A few inherited genes are sufficient by themselves to cause autism. But most so-called “autism genes” only increase the risk that an infant will go on to develop this developmental disorder. As is the case in many complex diseases, it appears that autism often results from a combination of genetic susceptibility and environmental triggers.
This is where epigenetics comes in. Epigenetics is the study of the factors that control gene expression, and this control is mediated by chemicals that surround a gene’s DNA. Environmental epigenetics looks at how outside influences modify these epigenetic chemicals, or “markers,” and so affect genetic activity.
It is important to remember that scientists use the term “environment” to refer to much more than pollutants and other chemical exposures. Researchers use this term to refer to pretty much any influence beyond genetic mutation. Parental age at time of conception, for example, is an environmental influence associated with increased risk of autism, as are birth complications that involve oxygen deprivation to an infant’s brain.
Because epigenetics gives us a way to look at the interaction between genes and environment, it holds great potential for identifying ways to prevent or reduce the risk of autism. It may also help us develop medicines and other interventions that can target disabling symptoms. We have written about epigenetics previously on this blog (here and here). So in this answer, I’d like to focus on the progress reported at a recent meeting hosted by Autism Speaks.
The Environmental Epigenetics of Autism Spectrum Disorders symposium, held in Washington, D.C. on Dec. 8, was the first of its kind. The meeting brought together more than 30 leaders in autism neurobiology, genetics and epidemiology with investigators in the epigenetics of other complex disorders to promote cross-disciplinary collaborations and identify opportunities for future studies.
Rob Waterland, of Baylor College of Medicine in Texas, described epidemiological studies and animal research that suggested how maternal nutrition during pregnancy can affect epigenetic markers in the brain cells of offspring.
Julie Herbstman, of Columbia University, described research that associated epigenetic changes in umbilical cord blood with a mother’s exposure to air pollutants known as polycyclic aromatic hydrocarbons (PAHs). PAHs are already infamous for their association with cancer and heart disease.
Rosanna Weksberg, of the Hospital for Sick Kids in Toronto, discussed findings that suggest how assisted reproductive technology may lead to changes in epigenetically regulated gene expression. This was of particular interest because assisted reproduction has been associated with ASD. Taking this one step further, Michael Skinner, of Washington State University, discussed “transgenerational epigenetic disease” and described research suggesting that exposures during pregnancy produce epigenetic changes that are then inherited through subsequent generations.
Arthur Beaudet, of Baylor College of Medicine, discussed a gene mutation that controls availability of the amino acid carnitine. This genetic mutation has been found to be more prevalent among children with ASD than among non-affected children, suggesting that it might be related to some subtypes of autism. Further study is needed to follow up on the suggestion that dietary supplementation of carnitine might help individuals with ASD who have this mutation. Caution is needed, however. As Laura Schaevitz, of Tufts University in Massachusetts, pointed out, studies with animal models of autism suggest that dietary supplementation may produce only temporary improvements in symptoms of neurodevelopmental disorders.
So what does this all mean for research that aims to help those currently struggling with autism? The meeting participants agreed that the role of epigenetics in ASD holds great promise but remains understudied and insufficiently understood. For clearer answers, they called for more research examining epigenetic changes in brain tissues. This type of research depends on bequeathed postmortem brain tissue, and Autism Speaks Autism Tissue Program is one of the field’s most important repositories. (Find more information on becoming an ATP family here).
The field also needs large epidemiological studies looking at epigenetic markers in blood samples taken over the course of a lifetime. One such study is the Early Autism Risk Longitudinal Investigation (EARLI). More information on participating in EARLI can be found here.
Autism Speaks remains committed to supporting and guiding environmental epigenetics as a highly important area of research. We look forward to reporting further results in the coming year and years.
Got more questions? Send them to firstname.lastname@example.org.
Read more autism research news and perspective on the science page.
Earlier this week, the LA Times ran a provocative article under the questioning headline above. It suggested that autism’s twentyfold increase over the last generation may be “more of a surge in diagnosis than in disease.” In fact, scientific evidence suggests that autism’s dramatic increase is only partially explained by improved screening and diagnosis.
Some of the clearest evidence of this increase comes from research documenting a 600 percent jump in autism caseload in California between 1992 and 2006. In related studies (here and here), Peter Bearman estimated that around 42 percent of the increase can be explained by changes in diagnostic methods and awareness with another 11 percent possibly due to increases in parental age at the time of conception (a known risk factor).
Taking into account all the factors that have been studied, this leaves approximately half of the increase due to still-unidentified factors. Through research, we’re increasing our understanding of these influences. For example, we now know that prematurity and extreme low-birth weight increase autism risk in babies. Certainly survival rates for premature and very low birth weight infants have increased considerably over the last twenty years.
While no single factor is likely to explain the marked increase in autism’s prevalence, researchers agree that a number of influences likely work together to determine the risk that a child will develop an autism spectrum disorder (ASD).
Bottom line: It is undeniable that more children are being diagnosed with ASD than ever before. The need for increased funding for autism science and services has never been greater. Autism costs society is a staggering $35 billion per year. And with more cases, that figure is likely to increase. Fortunately, there is clear evidence that earlier identification and intervention and supports throughout the lifespan can improve outcomes and quality of life.
If you are concerned about your child’s development, please see the “Learn the Signs” page of our website. If you are an adult struggling with issues that might be related to autism, please follow the hyperlinks to our resource page for adults and our page on Asperger Syndrome.
Got more questions? Send them to GotQuestions@autismspeaks.org. And join our next live webchat with Dr. Dawson and her co-host, Autism Speaks assistant vice president and head of medical research Joe Horrigan, MD on January 5th. More information on their monthly webchats here.
On Thursday, November 10, representatives from the General Chapter of Royal Arch Masons International presented Autism Speaks with a $100,000 Royal Arch Research Assistance (RARA) grant. The generous contribution will help support the Autism Speaks early diagnosis and early intervention initiative to investigate auditory processing disorders in children with autism.
Many of the precursor symptoms of auditory processing disorders are seen in some children with Autism Spectrum Disorder (ASD). These symptoms include trouble paying attention and remembering information; poor listening skills; difficulty in processing information; behavioral problems; difficulty with comprehending language; and anxiety or confusion in social situations. Young children on the autism spectrum who exhibit precursor symptoms may be diagnosed with a central auditory processing disorder (CAPD) at a later age.
The RARA grant will enable Autism Speaks to address precursor symptoms of auditory processing disorders in an effort to create better outcomes for children who are at risk for developing both ASD and CAPD. In addition, the grant will go towards funding Autism Speaks’ efforts to educate healthcare providers and parents about the role of auditory processing disorders in a child’s autism diagnosis as well as encourage further evaluation for young children who demonstrate auditory processing difficult. Autism Speaks will also disseminate and share information developed in this effort with caregivers and clinicians including methods to treat auditory processing problems associated with ASD.
We would like to thank our friends at the Royal Arch Masons for this wonderful grant. Their support will help clinicians gain a better understanding of the early signs of auditory processing disorder in children with autism, allowing for treatment of this disorder to begin as early as possible.
This guest post is by Caroline McCloskey, a sophomore at UC Berkeley. She is the president and founder of her school’s Autism Speaks U chapter and is a true ambassador for our cause! Autism Speaks U is a program designed for college students who host awareness, advocacy and fundraising events, while supporting their local autism communities.
Helping those with autism has always held a place in my heart. My older brother Joey was diagnosed with autism at a very young age, and has always been my big “little brother.” Joey has a considerably severe case of autism and is often misunderstood because he has difficulty communicating with others. He lives in the world of a six-year old and still watches Disney movies (his favorite being Peter Pan), Sesame Street and Winnie the Pooh. One of the truly amazing things about my brother is his ability to complete a 500-piece puzzle in twenty minutes – something I would never be able to do. He will never fail to impress me with his unique gift and now that I’ve gone to college and live 6000 miles away from home, I miss him dearly.
Coming to the University of California, Berkeley was by far the best decision I have ever made. As soon as I got here I knew that I wanted to get involved on campus, so I looked into various student organizations and tried to find one that promoted autism awareness or raised money for scientific research. No such club or organization existed. I thought to myself: of all the hundreds of student organizations that Berkeley has to offer, how is it that not a single one addresses the problem of autism, something that affects 1 in 110 people?
Consequently, some friends and I took the initiative and our chapter of Autism Speaks U at Berkeley was officially founded on March 9th2011. Now we have over 30 active members and have begun to establish a firm presence on campus as of this academic year. The UC Berkeley community has been very supportive of our efforts and during Autism Awareness Month this year we held an awareness campaign and small-scale fundraiser in the Unit 2 Residence Halls. Our biggest achievement so far has been lighting up the Campanile blue on Autism Awareness Day, which we hope to do again in April 2012.
Right now we are in the process of planning a benefit concert to be held on November 19, of this year. We are also trying to establish a mentoring program with the Berkeley Unified School District, where members of our chapter would volunteer with children and young adults on the spectrum. Furthermore, we are in the early phases of planning a large-scale walk event on UC Berkeley’s campus, which will be held on April 72012, during Autism Awareness Month.
This year we have a very strong team of officers who are all contributing incredible amounts of time and effort to our cause. It means so much to me that my friends have been so supportive of what I am so passionate about, and I honestly appreciate their help and support more than they will ever know. I know that this year we’re going to go far and it’s all because of them: thank you, guys.