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Autism Speaks science staff and advisers review the 2017 studies that most powerfully advanced understanding, treatment and support for people on the autism spectrum

January 02, 2018

Autism Speaks is pleased to announce its annual selection of the ten studies that most-powerfully advanced the field of autism research to enhance lives today and accelerate a spectrum of solutions for tomorrow.

The Autism Speaks Medical and Scientific Advisory Board and the Autism Speaks science leadership team selected the annual Top Ten from more than 4,000 peer-reviewed research reports published in scientific journals this year.

“These studies exemplify the noteworthy advances we’re witnessing across the field – from research into the causes and biology of autism to the evaluation of new methods for earlier identification and intervention,” says Autism Speaks Chief Science Officer Thomas Frazier. “Their results are helping children today and laying the foundation for more-effective, personalized treatments and support services across the lifespan.”

Harnessing the power of parent participation in early intervention

A therapist reviews a video of mother-child interactions as part of a program teaching parents how to increase social engagement with infants at high risk for autism. 

Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3 years. Green, J, Pickles, A, Pasco, G, et al. J Child Psychol Psychiatr. 2017 Dec;58(12):1330-40. [Autism Speaks research grants 7773 and 1292]

Longitudinal follow-up of academic achievement in children with autism from age 2 to 18. Kim SH, Bal VH, Lord C. J Child Psychol Psychiatr. 2017 Sept 26 Epub

“These two studies stand out in demonstrating the benefits of parent participation in early intervention for autism. The study led by Jonathan Green, at the University of Manchester, is the first to show long-term benefits – milder autism features and increased social interaction – from a very early intervention that teaches parents how to interact with infants at high risk for autism. (Read more about this study here.)

The research led by So Hyun Kim, at Weill Cornell Medicine, focuses on the understudied topic of what influences academic achievement in children and youth on the autism spectrum. I find it particularly interesting that the study identified parent participation in early intervention by age 3 to be a significant predictor of academic achievement, in addition to cognitive abilities.”   

Stelios Georgiades, Ph.D., member of the Autism Speaks Medical and Scientific Advisory Board and co-director of the McMaster Autism Research Team, at McMaster University & Hamilton Health Sciences, in Hamilton, Ontario

Advances and insights in autism genomics

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Yuen RK, Merico D, Bookman M, et al. Nat Neurosci. 2017 Apr;20(4):602-11. [Autism Speaks research grants 976793657907]

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Weiner DJ, Wigdor EM, Ripke S, et al. Nat Genet. 2017 Jul;49(7):978-985.

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium. Mol Autism. 2017 May 22;8:21.

“These studies highlight how far we’ve come and how fast we’re moving in understanding the complex genetics of autism, though they were not alone in doing so. (Also see Turner 2017Werling 2017 and Grove 2017.)

Previously, genetic studies focused almost exclusively on genes, which contain instructions, or coding, for making proteins in our body. But they didn’t look closely at other parts of the genome, such as the less-understood “non-coding” regions. We’re just beginning to understand the role of non-coding DNA changes in autism. The next step is to combine the results of these and still more genomic studies. Only then will we be able to understand how different types of genetic – and environmental – risks interact with each other.

Joseph Buxbaum, Ph.D., member of the Autism Speaks Medical and Scientific Advisory Board and director of the Seaver Autism Center, Icahn School of Medicine at Mount Sinai, in New York City

Deciphering early differences in infant behavior and brain development

An infant views images of faces as researchers use highly sensitive eye-tracking technology to monitor where she’s focusing.

Image courtesy Emory University

Infant viewing of social scenes is under genetic control and is atypical in autism. Constantino JN, Kennon-McGill S, Weichselbaum C, et al. Nature. 2017 Jul 20;547(7663):340-344.

Early brain development in infants at high risk for autism spectrum disorder. Hazlett HC, Gu H, Munsell BC, et al. Nature. 2017;542:348-51. [Autism Speaks research grant 6020]

“These two studies are important for revealing new early predictors of autism and its severity. Such predictors can help us identify infants who may benefit from early interventions before the outward signs of autism develop. The study findings also give us insights into autism’s underlying biology, which can help us develop better treatments and support services.  

Because autism tends to run in families, both studies enrolled the baby siblings of children already diagnosed with the condition. Heather Hazlett’s team identified an increase in brain surface volume before 12 months in babies who later developed autism. During the second year of life, their overall brain size increased at the same time as their behavioral symptoms appeared. And the babies with the largest brain overgrowth developed the most-severe symptoms.

John Constantino’s team followed up on their previous discovery that, as babies, children who later developed autism were already paying less attention to socially important features of faces – the eyes and mouth. The team’s new study confirmed this finding and found that the preference for looking at eyes and mouths is strongly controlled by genetics across the general population. This implies that a strong genetic influence leads to differences in how a young child begins to experience and draw information from the social world. Such insights hold promise for guiding the development of interventions that support very early social development and communication in babies and toddlers at risk for autism. This includes any baby who shows warning signs. (See “Learn the signs of autism”)

Edwin Cook, M.D., member of the Autism Speaks Medical and Scientific Advisory Board and director of the Laboratory of Developmental Neuroscience, University of Illinois, Chicago

New insights into predictors and possible contributors to autism

Brain imaging shows increased cerebrospinal fluid around the brains of babies who later developed autism (right).

Image courtesy University of North Carolina, Chapel Hill

Increased extra-axial cerebrospinal fluid in high-risk infants who later develop autism. Shen MD, Kim SH, McKinstry RC, et al. Biol Psychiatry. 2017 Aug 1;82(3):186-193. [Autism Speaks research grant 6020]

Association between serotonergic antidepressant use during pregnancy and autism spectrum disorder in children. Brown HK, Ray JG, Wilton AS, et al. JAMA. 2017 Apr 18;317(15):1544-1552.

“The large study led by Mark Shen involved 343 infants and confirmed the unexpected results of a smaller 2013 study that found increased cerebrospinal fluid overlying the brain in babies who are later diagnosed with autism. This discovery represents more than an early biomarker of autism risk. It may lead to a better understanding of the neurodevelopmental processes that contribute to autism. For example, we now need to understand whether fundamental problems with the production or control of cerebrospinal fluid contribute to autism. Or perhaps the increased fluid stems from an underlying factor such as inflammation.

The report by Hilary Brown and colleagues is one of the best in a flurry of studies suggesting that serotonin antidepressants taken during pregnancy do not increase risk for autism. Some earlier studies suggested such a risk. But we know that autism occurs at higher rates in families affected by depression, anxiety or obsessive-compulsive disorder – the conditions commonly treated with these medicines. The new study found no difference in autism rates between siblings whose mothers took such a medication during one pregnancy but not the other.

This illustrates the need for exquisite control for differences in study populations when identifying risk factors for autism. The results also offer crucial guidance to expectant mothers who want to balance a medicine’s potential risk to a future child against the known risks of leaving a serious medical condition such as depression untreated.”

 - Jeremy Veenstra-VanderWeele, M.D., member of the Autism Speaks Medical and Science Advisory Committee and director of Division of Child and Adolescent Psychiatry, Columbia University College of Physicians and Surgeons, in New York City

Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Emerson RW, Adams C, Nishino T, et al. Sci Transl Med. 2017 Jun 7;9(393). [Autism Speaks research grant 6020]

“Earlier identification of autism is crucial for earlier intervention with its great potential to improve outcomes. To that end, Robert Emerson and colleagues showed that, at 6 months of age, differences in brain activity patterns (e.g. functional brain connections) can predict a later diagnosis of autism. This discovery is consistent with those of previous studies that identified tell-tale differences in anatomical, or structural, brain connections in babies who later developed autism. Together, this body of research reinforces the idea that the brain changes leading to autism begin very early in life.

However, this year’s study involved just 59 infants at high risk for autism (because they were born into families already affected by the condition). It’s important to confirm its results with a larger group of babies. If the findings prove true – and these brain-imaging methods become practical for use outside of research studies – we may gain an important new tool for detecting autism and intervening earlier in babies at high risk for the condition.”

 - Autism Speaks Chief Science Officer Thomas Frazier, Ph.D. 


New research suggests that a simple, inexpensive test may be able to accurately identify whether or not children as young as 3 months will go on to have autism.

study published online this week in the journal Scientific Reports found that the developmental disorder can be flagged in infants by measuring electrical activity in the brain using an electroencephalogram, or EEG.

The test was able to pick up on autism in some babies by 3 months and had near-perfect accuracy by 9 months.

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“EEGs are low-cost, non-invasive and relatively easy to incorporate into well-baby checkups,” said Charles Nelson, director of the Laboratories of Cognitive Neuroscience at Boston Children’s Hospital and a co-author of the study. “Their reliability in predicting whether a child will develop autism raises the possibility of intervening very early, well before clear behavioral symptoms emerge. This could lead to better outcomes and perhaps even prevent some of the behaviors associated with ASD.”

The study looked at 99 children considered to be at high risk for autism because they had an older sibling with the condition as well as 89 low-risk kids. All of the participants had EEGs at ages 3, 6, 9, 12, 18, 24 and 36 months and they took part in a traditional behavioral evaluation for autism.

Using computational algorithms, researchers assessed six different frequencies of the EEGs and were able to offer a “highly accurate” prediction of autism risk at just 3 months.

“The results were stunning,” said William Bosl, an associate professor of health informatics and clinical psychology at the University of San Francisco who worked on the study. “Our predictive accuracy by 9 months of age was nearly 100 percent. We were also able to predict ASD severity, as indicated by the (Autism Diagnostic Observation Schedule) Calibrated Severity Score, with quite high reliability, also by 9 months of age.”

Those behind the study said that additional research on a larger and more diverse population of children is needed to determine if the EEG approach would be an effective way to detect autism in clinical settings.


More children are being diagnosed with autism spectrum disorder, according to new data from the Centers for Disease Control and Prevention (CDC). Their new numbers now show that autism affects one in 59 children, an increase from previously reported one in 68 children.

Dr. Walter Zahorodny, a pediatrician and autism researcher, is “stunned by the speed of increase.”

This data was collected in 2014 through the Autism and Developmental Disabilities Monitoring (ADDM) Network, an organization described by the study's authors as “an active surveillance system that provides estimates of the prevalence of autism spectrum disorder (ASD) among children aged 8 years.”

How a dad overcame anxiety about bringing son with autism to work today

In this study, the ADDM Network first identified over 10,000 children with symptoms of ASD in 11 states. A team of researchers and experts in the field then reviewed their medical and school records since birth, confirming an autism diagnosis in 5,473 children. This extremely thorough approach limited confusion and ensured accurate and consistent diagnoses and results. Part of the difficulty in autism research is that there isn’t a medical “test” that determines if a child falls on the autism disorder spectrum -- it’s an evaluation based on observation, so reliable numbers have been historically difficult to guarantee.

The overall prevalence of autism was 16.8 per 1,000 children, or 1.68 percent, according to the study. This number varied between different states. The state with the lowest rate was Arkansas at 13.1 per 1,000 children. The state with highest rate was New Jersey at 29.3 in 1,000 children. There’s no reason given for regional variation.

Zahorodny, the lead researcher at the New Jersey site, states “3 percent is a real landmark, given that we started at 1 percent autism prevalence 14 years ago.”

These rates of autism are significantly higher than those in the last study from ADDM, which looked at a similar number of young children in 2012. This new study looked at exactly the same six locations that participated in 2012, and in these sites, the 2014 autism rates were 20 percent higher than they were in 2012.

Historically, the rate of autism in white children is 20-30 percent greater than black children and 50-70 percent greater than Hispanic children. In agreement with that previous data, autism was more common in white children, although there was a significant increase in the diagnosis in black and Hispanic children, with the prevalence in white children only 7 percent greater than in black children and 22 percent greater than in Hispanic children. In agreement with past studies, autism was about four times more common in boys.

One outlier: There was virtually no difference in autism rates between white, black, and Hispanic children in New Jersey. The authors argue that perhaps New Jersey’s overall higher autism prevalence is related to the more inclusive diagnosis of minority children, and therefore might be the most accurate rate in the study.

This study is not intended to be representative of the entire country. There are clear limitations, primarily because the data originated from only 11 collection sites. In addition, there were discrepancies in the amount and type of medical and educational data that was recorded from state to state. The data in this study is only as accurate as the information that was documented by physicians, counselors, and schools.

Why are more children than ever diagnosed with autism spectrum disorder?

The short answer: We don’t know.

The cause of autism is still unknown. There are associations between autism and prematurity, advanced parental age, and genetics -- however no evidence of causation, according to the American Academy of Pediatrics (AAP). There's also a lot of discussion about potential environmental causes, yet again, there's no science to support these claims (the claim that vaccines cause autism has been disproven by the AAP time and time again).

To be diagnosed on the spectrum, a child must have three key characteristics: delayed language development, abnormal, repetitive behaviors, and difficulty socializing. Children with autism can have stereotypical behaviors such as rocking, spinning, hand-flapping, and toe-walking. They can also have difficulty making eye contact or playing with other children.

It’s important to know that there are many children that are NOT on the spectrum who may display these behaviors. The diagnosis of autism is made by looking at a child’s development, language, and behavior as a whole. If you have concerns about your child, you should speak with a pediatrician.

As the name implies, there's a wide range in severity. While many children are able to do well in school and make friends with minimal assistance, others may need significant speech and behavioral therapy to function.

Which brings us to the treatment of autism: Therapy, therapy, and more therapy.

There's no cure for autism, but certain types of therapies have been proven to improve a child’s ability to function in the real world.

One of the most alarming findings in this new study is the widespread delayed diagnosis of autism. The median age of diagnosis was 52 months, just over 4 years. Children with autism should be diagnosed by 3 years old and receive appropriate therapies by 4 years old, according to Department of Health and Human Services Healthy People 2020 goals.

We are diagnosing most children too late, according to these numbers.

"We need to have strong concerted efforts toward universal autism screening,” Zahorodny said in response to this data. The AAP states that all children should be screened for autism by their primary care provider at 18 months and again at 24 months.

Is autism really becoming more common?

It's unclear if this rise in autism is due to an increase in diagnosis or an increase in the actual prevalence of autism. Some scientists argue that physicians are doing a better job at diagnosing autism, particularly in minority populations, and that’s why the autism numbers are up.

Thomas Frazier, the chief science officer at Autism Speaks, feels “there is a meaningful increase.”

Both Frazier and Zahorodny agree that while the increase in diagnosis is contributing to the prevalence, it cannot be the only cause. It seems the increase in autism is significant enough that many psychologists and pediatricians worry we're missing a piece of this puzzle.

Laura Shopp, M.D. is a third-year pediatrics resident affiliated with Indiana University who works in the ABC News Medical Unit.

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