Today at Neuroscience 2015, researchers reported on a new study supporting the idea that certain antibodies in a woman’s bloodstream can interfere with prenatal brain development in ways that predispose a child to autism. The results raise interest in identifying and blocking such antibodies in pregnant women.

Antibodies are proteins that bind to foreign invaders such as viruses and bacteria to mark them for destruction by the immune system. But sometimes they bind to healthy cells to cause an autoimmune, or “self-destructive,” reaction.

Previous research has associated some cases of autism spectrum disorder (ASD) with maternal antibodies that interfere with prenatal brain development. (See diagram above, courtesy Pediatric Bioscience.)

In the new study, researchers isolated several such antibodies from mothers of children affected by autism. Then they injected them into pregnant mice.

"We found that male offspring but not female offspring exposed in utero to one particular antibody showed structural abnormalities in the developing brain," says lead author Lior Brimberg, of the Feinstein Institute for Medical Research, in Manhasset, New York. "As adults, those male mice displayed behavioral abnormalities reminiscent of ASD." These included repetitive behaviors, learning inflexibility and reduced sociability.

The clear male versus female effect in mice is in line with autism’s little-understood sex disparity in people: Autism affects nearly five times as many boys and men as girls and women.

The researchers further studied the antibody and found that it attacks a cell-membrane protein that’s key to healthy brain-cell function. This dovetails with still other human and animal studies that have linked autism to mutations in the gene that produces this same brain-cell protein.

"This approach allows identification of potential ASD-inducing antibodies and could lead to the development of reagents [medicines] that block these antibodies and prevent the occurrence of this subtype of ASD," Dr. Brimberg says. It also advances understanding of at least one of the pathways by which autism develops.

The study was funded by the Simons Foundation, the U.S. Department of Defense and the Brain & Behavior Research Foundation.

See all our Neuroscience 2015 coverage here.

For more on maternal antibodies and autism, also see

Study IDs brain proteins targeted by autism-related antibodies

and

Your ATN@Work: Investigating maternal antibodies and autism
 

Subscribe to a daily feed of Autism Speaks Science News here.

Researchers studying brain scans from premature and full-term babies have zeroed in on differences that may help explain why autism is particularly common among children who were born extremely preterm.

In particular, they associate being 10 weeks or more premature with persistent weakness in brain connections that are important for attention, communication and the processing of emotions.

Calling the news “hopeful,” the study authors suggest that early intervention therapies might be tailored to strengthen these brain networks and improve outcomes.

"The brain is particularly 'plastic' very early in life and potentially could be modified by early intervention," says study leader Cynthia Rogers, a child psychiatrist at Washington University School of Medicine, in St. Louis. "We usually can't begin interventions until after symptoms develop. But what we're trying to do is develop objective measures of brain development in preemies that can indicate whether ... we can intervene with extra support and therapy early on to try to improve outcomes." Such interventions might begin as early as infancy.

Dr. Rogers presented her team’s findings today in Chicago at Neuroscience 2015, the annual scientific meeting of the Society for Neuroscience.

One of every nine infants in the United States is born prematurely, putting them at increased risk of developmental difficulties including autism spectrum disorder (ASD).

To get a better picture of how premature birth affects the brain, the Washington University team used functional magnetic resonance imaging and diffusion tensor brain imaging to compare 58 babies born at full term with 76 infants born 10 weeks or more early.

The premature babies received their brain scans within a few days of their due dates. The full-term babies were scanned on their second or third day of life.

The researchers found that brain networks involved in attention, communication and emotion remained weaker in the premature infants. They propose this to be a possible explanation for why children born prematurely have unusually high rates of neurodevelopmental and mental health disorders such as autism and anxiety.

The preemies also showed weaknesses in two brain networks that previous research has associated with both autism and attention deficit and hyperactivity disorder (ADHD).

The researchers will continue to follow the children’s development into grade school.

"We're analyzing the data we've already gathered, but we want to bring the children back when they are 9 or 10 and continue to follow their development," Dr. Rogers says. The hope, she says, is to identify persistent brain weaknesses that can be addressed with individualized therapies and educational supports.

See all our Neuroscience 2015 coverage here.

Subscribe to a daily feed of Autism Speaks Science News here.

A new study of genes associated with autism reveals that many also predispose to one or more of the medical and mental issues that commonly accompany the disorder.

The findings, presented this week at Neuroscience 2015 in Chicago, advance understanding of autism as a “whole-body” disorder.

They also support the hope that genetic testing may become a standard method for personalizing diagnosis and therapy for autism and its associated conditions.

The 115 autism-linked genes in the analysis were part of a larger sample of 200 genes linked to a range of brain disorders including attention-deficit and hyperactivity disorder, bipolar disorder and schizophrenia.

Autism Speaks helped fund the research with a Meixner Fellowship in Translational Research for study co-author Jasmine Plummer. Study leader Pat Levitt, of Children’s Hospital Los Angeles, is also pursuing a major Autism Speaks-funded study into autism’s “gut-brain connection.”

Their analysis showed that nearly a quarter of the larger group of 200 genes were also associated with intellectual disability. Intellectual disability affects around a third of children and adults who have autism. It linked another 27 of the 200 genes to epilepsy. Studies suggest that epilepsy affects 15 to 30 percent of people who have autism. 

Looking at the 115 genes that predispose specifically to autism, the researchers found another nine associated with gastrointestinal (GI) disorders. They linked still other autism genes to increased risk for cancer, autoimmune disorders, heart disease and kidney problems.

“The findings support Autism Speaks commitment to treating autism as a whole-body condition,” comments neuroscientist Dan Smith, Autism Speaks’ vice president for innovative technologies. “Our hope for genetic analyses like this one is that they will reveal the causes of whole-body autism symptoms. Genomics is an important part of figuring that out, and it’s why many large genome projects are underway, including Autism Speaks whole genome sequencing MSSNG project.”

A collaboration between Google and Autism Speaks, MSSNG is creating the world’s largest genomic database on families affected by autism and making it freely available for global research.

Learn more about MSSNG here.

Autism Speaks Autism Treatment Network is delivering on the vision of providing whole-person care and support for children with autism and their families at 14 medical centers across the United States and Canada.

Learn more about the ATN and find the ATN center nearest you here.

Read more about Dr. Plummer’s Autism Speaks fellowship project here.

Read about Dr. Levitt’s Autism Speaks gut-brain research here.

See all our Neuroscience 2015 coverage here.

Know a health care provider, early educator or other care giver in a position to help recognize children who have autism?

The CDC has improved its online Autism Case Training programs with real-life scenarios showing children with autism in a variety of clinic, classroom and home settings.

At present, the average of age of autism diagnosis in the United States remains stuck at around 4 years. But autism can be diagnosed as early as age 2, and research consistently shows that earlier intervention improves outcomes.

The CDC's online trainings provide guidance on the red flags, diagnosis and care of children with autism and have the endorsement of the American Academy of Pediatrics. They are also free for anyone to access and are approved for continuing medical education (CME) and continuing education (CE) credits for professionals.

Learn more and access the CDC trainings and video clips HERE.

For more information and guidance on early recognition of autism, also see:

SCREEN YOUR CHILD
An automated online version of M-CHAT (the Modified Checklist for Autism in Toddlers)

and

LEARN THE SIGNS

A new study brings deeper understanding of the distinctive ways that autism influences how people view their world – in particular where they focus and what they miss when scanning a scene.

The researchers, from the California Institute of Technology, say their insights might guide future interventions that help those with autism better navigate daily life. Their report appears in the journal Neuron.

Previous research suggests that autism’s core symptoms of impaired social and communication skills are strongly shaped by how an affected person perceives the world. In particular, people with autism often lack the strong focus on faces that’s needed to read other people’s social cues.

In their study, the Caltech researchers endeavored to go beyond the simple truism that people with autism “don’t look at faces” to explore how they process complex real-life scenarios.  

Instead of showing study participants isolated images of single objects or faces, they asked them to look at hundreds of real-life scenes full of countless combinations of objects, people and animals.

"Complex images of natural scenes were a big part of this unique approach," says co-author Shuo Wang. “Having objects that are related in a natural way and that show something meaningful provides the semantic context. It is a real-world approach."

Twenty of the participants had autism. All were verbal, and none had intellectual disability. The researchers also enrolled a comparison group of 19 people unaffected by autism. They matched the two groups for age, race, gender, educational level and IQ.

Each subject viewed each scene for three seconds while an eye-tracking device recorded his or her attention patterns across the image.

The results confirmed previous research showing that people with autism are less drawn to faces than are other people. They also brought two new insights:

* Whatever the image, the participants with autism tended to focus on whatever was front and center in the scene before them.

* In addition, their attention tended to be caught by objects that stood out from the surroundings, regardless of whether it the object was important to what was going on.

"Our work shows that the story is not as simple as saying 'people with ASD don't look normally at faces,’” says co-author Ralph Adolphs. “They don't look at most things in a typical way.”

Dr. Adolphs plans to look for further insights by using brain imaging to track and compare the brain activity of people with or without autism while there are viewing scenes similar to those in this study.

Subscribe to a daily feed of Autism Speaks Science News here.

A five-week treatment with oxytocin nasal spray improved social, emotional and behavioral issues among young children with autism, according to new research published this week in Molecular Psychiatry.

A naturally occurring hormone, oxytocin plays a role in social bonding. In early studies – including a clinical trial supported by Autism Speaks – a nasal spray containing a synthetic version of oxytocin temporarily increased social responsiveness in children with autism. However, results have been inconsistent in larger, follow-up studies. 

Moreover, studies in laboratory animals have suggested that long-term use might actually decrease the brain’s natural production of this so-called “social hormone.” And still other research has shown that oxytocin levels are no lower in people with autism, on average, than they are in other people.

The new study, conducted at the University of Sydney, Australia, enrolled 39 children, ages 3 to 8 years of age. Thirty-one of the children completed the study. Each received synthetic oxytocin or a placebo (saline solution) in a nasal spray twice daily for five weeks. The researchers then switched the two groups so that those who had received oxytocin received the placebo, and vice versa. Neither the researchers nor the families knew when each child was getting the active treatment until the study’s end.

Meanwhile, the researchers observed the children’s behavior as they participated in behavioral therapy sessions at the university’s autism clinic. They also had parents fill out daily questionnaires on their children’s behavior.

"We used some of the most widely used assessments of social responsiveness for children with autism," says co-author Adam Guastella, a child psychologist in the university’s Brain and Mind Centre. "We found that following oxytocin treatment, parents reported their child to be more socially responsive at home. Our own blind independent clinician ratings also supported improved social responsiveness in the therapy rooms of the Brain and Mind Centre."

"The potential to use such simple treatments to enhance the longer-term benefits of other behavioral, educational and technology-based therapies is very exciting," adds study co-author Ian Hickie, a psychiatrist at the Sydney Brain and Mind Centre.

Overall, the nasal spray was well tolerated and the most common adverse events were increased thirst, urination and constipation. However, two children receiving oxytocin had to discontinue because of worsening behavioral challenges.

The next step, the researchers say, is to understand how oxytocin changes brain circuitry to improve social behavior and to see how oxytocin might be used to improve children’s response to behavioral therapy and social-skills classes. The goal is to develop the potential of oxytocin-based medicines – not in isolation – but in the context of multi-disciplinary care, they say.

“While it’s premature to give children oxytocin based on this small and limited trial, I think it shows the importance of studying such treatments in younger children,” comments developmental pediatrician Paul Wang, Autism Speaks senior vice president for medical research. “This is why early diagnosis is so important – so that treatment and treatment research can begin at the ages when it’s likely to make the most difference.”

Read the full, open-access research paper here.

For more research news and perspective on oxytocin for autism, also see:

Can oxytocin treat autism?

Study: Low oxytocin doesn’t cause autism, but can worsen social disability

Bonding over oxytocin

Study provides new clues to oxytocin-autism connection

Oxytocin for Treating Autism? Not So Fast…

Autism Speaks has funded twelve oxytocin studies at ten sites in the U.S. and abroad. (See map above.) Learn more about these studies here. Like all the research supported by Autism Speaks, these grants are made possible by the passion and generosity of our families, donors and volunteers.

Subscribe to a daily feed of Autism Speaks Science News here.

Today the leadership of Autism Speaks and the Stavros Niarchos Foundation welcomed the seventh class of Dennis Weatherstone Predoctoral Fellows during the program’s annual luncheon at the Princeton Club, in New York City.

The two-year fellowships enable highly promising doctoral students to pursue autism research projects under the mentorship of the field’s leading scientists. 

“Over the last seven years, thanks to the generosity and vision of the Stavros Niarchos Foundation and the Weatherstone family, we have launched 59 talented young scientists into careers in autism research,” said Autism Speaks President Liz Feld. “Already, we’ve seen the return on our investment – from deeper understanding of what causes autism to more effective therapies and supports to improve quality of life. But the real payoff, we know, has yet to come, as this remarkable new generation takes us in directions we’ve not yet imagined.”

Autism Speaks established the highly competitive Weatherstone fellowship program in 2008 with a generous gift from the Niarchos Foundation. The program’s name honors the foundation’s first chairman, Sir Dennis Weatherstone. A distinguished financier, Sir Weatherstone and his wife shared a deep, personal commitment to supporting autism research. Lady Weatherstone continues to support the career development of Autism Speaks Weatherstone fellows. 

"We ask you to give your very best to find solutions, each in your own way," Niarchos Foundation Chief Operating Officer Vasili Tsamis told this year's fellows. "You are here to write history." 

Autism Speaks Chief Science Officer Rob Ring joined in welcoming the young scientists, calling Autism Speaks' fellowships the "crown jewels" of its research program. "Through our research portfolio, we invest in so many areas of investigation, from genomic discovery to medical interventions and epidemiology. But our investment in your potential is the most inspiring and offers us the greatest return on our mission." 

Paul Wang, Autism Speaks’ senior vice president for medical research, introduced this year’s eight fellows saying, “This new class of Weatherstone fellows will be studying a wide range of topics, from genes that protect or predispose to autism, to behavioral treatments for toddlers diagnosed with autism. By supporting them in this work, we ensure a continued pipeline of highly skilled researchers who will continue to improve the diagnosis and treatment of autism for many years into the future.”

Each fellow presented an overview of his or her research project and personal motivation to work in the field of autism.

Read about all eight 2015 Weatherstone fellows and their research projects here.

Weatherstone alumna Tychele Turner presented the findings of her breakthrough research on the genetics of autism in girls and women.

Read about Dr. Turner's findings here.

Letter from the Taekwondo champion
In what has become an annual tradition, Lady Weatherstone closed the luncheon by reading a letter of encouragement from her daughter Cheryl Weatherstone Vance, whose son, Hunter, has autism. Ms. Weatherstone Vance is a black belt  world champion in American Taekwondo.

“My dad was right when he said there is nothing stronger than the heart of a champion,” Weatherstone Vance wrote. “You are my champions. So when the path becomes hard, please stay the course, get back up and fight another round.… With a grateful heart, I thank you for choosing autism as your field of research to help find that missing piece of the puzzle.”  

Read Weatherstone Vance’s full letter here.

Read about all 59 Weatherstone research projects to date here. 

A large, new study on the association between autism and obesity finds that the tendency toward unhealthy weight gain starts surprisingly early.

Of the 5,053 children with autism in the study, nearly a third (32 percent) of the 2 to 5 year olds were overweight, compared to less than a quarter (23 percent) of 2 to 5 year olds in the general population.

Sixteen percent of the 2 to 5 year olds with autism were medically obese, compared to 10 percent of 2 to 5 year olds in the general population.

The investigators also found lesser but significant increases in obesity rates among teens with autism and among children whose autism was complicated by sleep and mood problems, the latter including depression and anxiety.

The study, by researchers in the Autism Speaks Autism Treatment Network (ATN), appears today in Pediatrics.It was supported through the ATN’s federally funded role as the Autism Treatment Network for Physical Health (AIR-P). The study participants were children whose parents had enrolled them in the voluntary ATN Patient Registry.

New insights focus call for action
“These new findings are important for showing that obesity and unhealthy weight start early among children with autism,” says developmental pediatrician Paul Wang, Autism Speaks senior vice president for medical research. Dr. Wang likewise highlights the importance of seeing the association between obesity and the sleep and mood problems that commonly co-occur with autism.

“We need to make sure that obesity and unhealthy weight gain are recognized and addressed whenever they occur in children with autism spectrum disorder,” he emphasizes. “The complex, whole-body nature of autism clearly demands that this be done with multi-pronged and coordinated treatment approach such as that provided at our ATN centers.”

Investigating longstanding concerns
Families and physicians have long raised the problem of weight gain and obesity among children and teens who have autism. Significant weight gain is a common side effect of behavior-calming medications such as risperidone, which are given to many children and teens severely affected by autism. Along these lines, the new study found that the likelihood of being overweight or obese increased with the number of psychoactive medicines a child or teen was taking. (Some children were taking as many as five.)

In addition, some have proposed that autism’s link to obesity may stem, in part, from the lack of physical activity that can accompany social isolation. The classic example is the child who stays at home playing video games rather than participating in group play or sports. The new study didn’t explore this issue because its information was drawn from medical records that didn’t include comprehensive information on diet and daily physical activity.

The authors of the study included Alison Presmanes, Katharine Zuckerman and Eric Fombonne, of Oregon Health & Science University, in Portland.

The Maternal and Child Health Bureau of the U.S. Health Resources and Services Administration funds the AIR-P through a cooperative agreement with Massachusetts General Hospital.

The AIR-P continues to fund research into the autism-obesity link with the aim of developing solutions that enhance health and quality of life. Read more about this research here. Read about all the ATN/AIR-P ongoing research projects here.

Subscribe to a daily feed of Autism Speaks Science News here.

“Almost everyone agrees that autism is caused by a combination of genetics and the environment,” writes science journalist Sarah DeWeert. “But while geneticists can comfortably rattle off lists of dozens of autism-linked genes, there’s much less agreement about which environmental factors contribute to the disorder — and by how much.”

DeWeert takes an in-depth look at why decades of research have pinned down relatively few of the environmental factors that affect autism risk, in the “Deep Dive” feature section of the online autism research news site Spectrum.

Read her full feature story here.

Several of the studies mentioned in the story have received support from Autism Speaks, which has invested more than $16 million into research on the environmental factors that contribute to – or protect against – autism.

Read more about Autism Speaks Environmental Factors in Autism Research Initiative here.

You may also be interested in the following related news stories and blog posts:                                                                                                                            

Autism ‘Tooth Fairy’ Studies Promise Insights into Environmental Risks

Prenatal Inflammation Linked to Autism Risk

Air Pollution and Autism Risk

New Research on PCBs and Autism

Beyond Autism Genes: Epigenetic Differences in Identical Twins

What is epigenetics, and what does it have to do with autism?

What do scientists mean when they talk about ‘environmental factors’ that cause autism?

“Baby Ezra is sitting on his mother's lap and staring at the computer screen with the amazement of someone still new to the world. The five-month-old's eyes rest on a series of pictures: three dancing women, four black circles, then a face among random objects. Ezra studies the screen with fascination — although now and then, his attention wanders. He lets out a gurgle, and moments later, a short cry. He is chewing a sock….

How do you get into the mind of a human being who cannot speak, does not follow instructions and rudely interrupts your experiments? That is the challenge embraced by scientists at the Babylab.”

So begins science journalist Linda Geddes’ news feature on the University of London’s Babylab, in this week's online edition of Nature.

In 2013, the Babylab started the flagship project of which Ezra is part: an effort to study infants from 12 weeks old who are at high risk of autism spectrum disorder or attention deficit hyperactivity disorder alongside a control group, in order to detect more early signs of these conditions and find behavioral therapies that might help, Geddes reports. 

Since then, Babylabl’s scientists have pioneered techniques such as infant near-infrared spectrometry to track brain activity. They are also combining multiple high-tech techniques to identify early signs of autism and help develop early interventions that can help.

"In many cases, we diagnose autism well after parents and others suspect that something may be wrong,” comments Dan Smith, Autism Speaks’ vice president of innovative technologies. “That lag represents a loss of vital early neurodevelopment time. That’s why big, rigorous research and projects like Babylab are so important. They promise to solve this problem by finding previously hidden signs earlier and more reliably."

Follow the title link to read the full story – “The big baby experiment.”

A new government survey of parents suggests that 1 in 45 children, ages 3 through 17, have been diagnosed with autism spectrum disorder (ASD). This is notably higher than the official government estimate of 1 in 68 American children with autism, by the Centers for Disease Control and Prevention (CDC).

Because the new numbers come from a parent survey, they don’t replace the CDC’s 1-in-68 figure as the official estimate of autism prevalence in the United States.

However, the CDC has acknowledged that its estimate has significant limitations. It’s based on an analysis of the medical and school records of 8-year-old children at monitoring sites across the country. As such, it can miss children who are not receiving medical or special education services related to autism. 

“The 1 in 45 estimate is not surprising and is likely a more accurate representation of autism prevalence in the United States,” comments epidemiologist Michael Rosanoff, Autism Speaks director for public health research. “This means that 2 percent of children in the U.S. are living with autism. The earlier they have access to care, services and treatment, the more likely they are to progress.” (Read statements from Autism Speaks and Autism Society of America here.)

The parent survey results released today are from the 2014 National Health Interview Survey. Conducted by the National Center for Health Statistics, it’s the most in-depth survey of its kind in the United States. In all, more than 12,000 parents are interviewed on family health conditions. As part of the interview, one child in each family is randomly selected to be the subject of detailed questions on health and disabilities.

In part, the 2014 survey's high autism prevalence number reflects changes in the order and wording of the survey’s questions, the authors say. They made these changes after noting that the questions on their 2011-2013 survey had likely confused parents and resulted in an underreporting of autism.

For exact wording and order of survey questions, see figure 1 below.

Indeed, the rewording and reordering of the questions produced a near doubling of reported autism diagnoses – from 1 in 80 in the 2011-2013 surveys to 1 in 45 in the 2014 survey. (See figure 2 below.)

The new numbers are more similar to those from another national parent survey – the 2013 National Survey of Children’s Health– which found an autism prevalence of 1 in 50.

Pursuing more accurate numbers
In its effort to develop better methods for identifying autism and estimating prevalence, Autism Speaks has funded studies using active surveillance methods that go beyond parent reports and record reviews. In the first such study, in South Korea, researchers went into schools to screen children for autism. They found a prevalence of 1 in 38 – with many of the children having gone previously undiagnosed.

Autism Speaks and the CDC have since collaborated to support a study testing the same active screening methods in a U.S. community. The results are expected in 2016. 

“We need to better understand not only who has autism,” Rosanoff concludes, “but whether they are receiving the support they need and how we can ensure that they do receive it.”

Download the full report here.

For more coverage, also see:
"Latest US estimate suggests 1 in 45 children have autism" (Associated Press)

"New survey method finds more kids with autism" (NBC News)

“Autism cases in US jump to 1 in 45: Who gets the diagnosis, in 8 simple charts” (Washington Post)

Subscribe to a daily feed of Autism Speaks Science News here.

Autism Speaks and the Simons Foundation have entered into an agreement with the National Institutes of Health to align two of the world’s largest repositories of donated postmortem brain tissue for medical research: Autism BrainNet and the NIH NeuroBioBank.

The partnership will produce a unified resource for neurological research by aligning the procedures that the two repositories use to collect, prepare and preserve the field’s most precious and limited resource – the human brain. The agreement will also establish shared standards and strict criteria that researchers must meet to obtain tissue from the two brain banks.

“The collaboration between the NIH NeuroBioBank and Autism BrainNet is a key step in developing the necessary resources to understand and treat autism spectrum disorder,” says NIH NeuroBioBank project officer Michelle Freund.

“This collaboration will send a clear message to the autism community that a unified, national approach is underway to collect a critical number of brain donations for autism research,” adds Autism BrainNet Director David Amaral. “We aim to achieve this goal as quickly as possible in order to facilitate research into autism’s causes, with the ultimate goal of developing more effective treatments to decrease disability and increase quality of life.”

In recent years, human genetic sequencing, animal research and other approaches have led to significant advances in our understanding of autism spectrum disorder. However, many avenues of autism research have been hampered by the extreme lack of direct access to human brain tissue. Unified procedures in how donated brain tissue is collected, prepared and stored is vital for avoiding discrepancies in their analysis.

“Postmortem brain tissue is essential to understanding how genetic and environmental factors influence the human brain,” says Marta Benedetti, senior scientist for the Simons Foundation Autism Research Initiative. “This unprecedented public-private collaboration will catalyze discovery of new mechanisms implicated in the development of autism spectrum disorder at the level of gene expression, cells and circuits – which are not accessible to current imaging technology. It will also allow for the much-needed replication of published findings.”

Adds Daniel Smith, Autism Speaks’ vice president for innovation technologies: “This important partnership arms autism researchers with a higher quality resource to study the underpinnings of autism. Joining forces to standardize our brain banking procedures is an investment in serving our community members with the most meaningful research possible.”

The Simons Foundation and Autism Speaks created Autism BrainNet in 2014, building on the Autism Tissue Program created in 1988 by the National Alliance for Autism Research (NAAR) and Cure Autism Now (CAN), two of the legacy organizations that became Autism Speaks.

The NIH NeuroBioBank is a program of the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Like Autism BrainNet, it facilitates the collection and distribution of human post-mortem brain tissue for a broad range of neurological research. It does so in collaboration with tissue repositories, health advocacy groups, and individuals interested in post-mortem brain donation – in order to advance research on neurological conditions.

Autism BrainNet depends on postmortem donations from individuals and families affected by autism spectrum disorder. Many families have found great meaning in making this donation. Learn more about becoming a donor family at TakesBrains.org.

Also see the related NIH announcement
"NIH-supported NeuroBioBank joins Autism BrainNet in brain donation initiative"

Researchers have identified a difference in brain activity that may explain why many people with autism struggle to pick up on social cues and to screen out distracting sights, sounds and other sensations.

The difference – a slowness in the brain activation and habituation involved learning patterns – increased with autism severity. Importantly, the findings suggest areas where people with autism may benefit from tailored teaching approaches and other supports.

The findings appear this week in the journal NeuroImage.

The study, conducted by Sarah Schipul and Marcel Just, of Carnegie Mellon University, involved 16 adults affected by autism spectrum disorder (ASD) and 16 adults unaffected by the condition.

A simple task – for some…
The researchers asked the participants to repeatedly view a pattern of dots. With each presentation, the dots varied slightly but the overall pattern remained the same. At the end of the exercise, the participants were asked to correctly identify the pattern, presented alongside a different pattern.

This type of pattern familiarization – which occurs largely beyond conscious awareness – is called implicit learning. Implicit learning is likewise thought to be crucial for learning language and social cues, as well as screening out distracting sights, sounds and other sensations.

The researchers used functional magnetic resonance imaging (fMRI) to track how quickly each participant’s brain became familiar with the dot pattern. They could see this familiarization process as a decrease in active brain responses to the pattern over multiple viewings. This decrease in brain activity, the researchers say, indicates that the brain is learning the pattern and requires less energy to process it on subsequent viewings.  

They found that the brains of the control subjects (unaffected by autism) adapted more quickly when they repeatedly saw the pattern. With each subsequent exposure, their brains responded less and less – indicating that the pattern had been learned and become “old news.”

"This finding provides a tentative explanation for why people with ASD might have difficulty with everyday social interactions,” Dr. Just says. Social rules and cues – like background patterns – tend to be learned implicitly, or without conscious awareness, he explains.

So the study’s findings support the idea that many people with autism need extra support and coaching to consciously learn social rules and responses.

Brain adaptation and autism severity
What’s more, the results showed that the slowness in brain adaptation increased with the severity of the participant’s autism symptoms. 

"Seeing that individuals with more atypical neural responses also had more severe ASD symptoms suggests that these neural characteristics underlie or contribute to the core symptoms of ASD," Just says. "For example, the ability to learn implicit social clues may be affected in ASD, leading to impaired social processing."

Decreased brain synchronization
A second finding of the study involved brain synchronization – that is, how well brain activity coordinated across different regions of the brain while the study volunteers learned the dot pattern.

The researchers had specifically designed the implicit learning exercise to engage both the frontal and posterior regions of the brain. But the brain scans showed that brain synchronization between these regions was significantly lower in the participants who had autism.

"This alteration of brain synchronization,” Just explains, may lead to symptoms of the disorder that involve processes that require brain coordination between frontal and other areas, such as language processing and social interaction.”

By increasing understanding of the brain differences behind autism symptoms, such research may guide the development of tailored teaching methods that help those with autism master skills that most people learn unconsciously. 

Also see these related news stories:

Study: Too much repetition can hinder learning in those with autism

More evidence of need to teach ‘mind reading’ skills to those with autism

New insights into the autistic point of view

Under the leadership of First Lady Candida Montilla, the Dominican Republic has signed on as the newest partner in Autism Speaks’ Global Autism Public Health (GAPH) initiative.

“We will collaborate on an awareness campaign based on our Spanish-language materials, as well as on a prevalence study that will be among the first in Latin America,” says Michael Rosanoff, Autism Speaks director for public health research. Prevalence studies are a vital step in enabling governments to recognize and meet the need for autism services

The Dominican Republic will also join in the field trials of the Parent Skills Training program developed by Autism Speaks and the World Health Organization (WHO).

Earlier this month, Autism Speaks public health team members Michael Rosanoff and Lucia Murillo traveled to Santiago to attend the inauguration of the Dominican Republic’s new Integral Disabilities Care Center, the second of five centers commissioned by the First Lady to deliver services to children with developmental disabilities and provide training to parents and caregivers.

"The partnership with Autism Speaks GAPH Initiative will allow services to reach beyond the walls of these centers and deeper into the communities of the Dominican Republic,” Rosanoff says. “We are grateful to be working with the First Lady and the autism families of the Dominican Republic to help them reach their vision."

* Read more about Autism Speaks Global Autism Public Health initiative here.
* Read more about the Autism Speaks/WHO Parent Skills Training program here.
* Access Autism Speaks Spanish-language resources here. 

Autism researchers have found a promising new method to detect prenatal exposures that may increase risk for autism – and to do so years after the exposures occurred.

In their study, the researchers showed that a chemical signature of prenatal exposure to cigarette smoke persists in the blood of preschoolers. It’s not known whether smoking during pregnancy contributes to autism. Rather, since a mother can say whether or not she smoked, the researchers could see if a clear chemical signature of prenatal exposure persisted into childhood.

They will now look for markers for less-obvious toxic exposures suspected to increase autism risk. These include exposure to pesticides, air pollution, plasticizers and maternal inflammation. 

The study, led by Daniele Fallin and Christine Ladd-Acosta, appears this week in the journal Environmental Research. It was funded, in part, by Autism Speaks’ inaugural Geier Grant in Environmental Research.

Fallin directs the Bloomberg School's Wendy Klag Center for Autism & Developmental Disabilities, at Johns Hopkins University. Her Geier grant supports her team’s study of gene-environmental interactions across the entire genome of children who have autism.

More specifically, Fallin’s team is looking at so-called epigenetic markers. These chemical tags sit atop a gene’s DNA and help control when and where the gene is active.

Epigenetic control of gene activity is particularly crucial for guiding early brain development. And it’s known that chemical exposures, infection and other stresses can alter epigenetics – and so alter gene activity in important and lasting ways.

“We have long known that the body is an accumulator of past exposures – evidence of lead exposure lives on in our bones, for example,” Fallin says. “But we did not know that something as easy-to-collect as blood could contain evidence of exposures not only during your life but prenatally. That's what makes this so compelling.”

“Smoking is one thing,” she adds. “But if this turns out to be possible for other kinds of exposures, this could be a paradigm shift.”

In the study, the researchers performed whole genome epigenetic analysis on the blood of 531 children, ages 3 to 5, from six sites across the United States. They also asked the children’s mothers about smoking during pregnancy.

They then analyzed epigenetic patterns (methylation) at 26 locations across the children’s genomes. Based on this analysis, they were able to identify which mothers smoked during pregnancy with 81 percent accuracy.

Other researchers had previously identified these epigenetic signatures of prenatal smoking in infant cord blood. The new study is the first to show that the tell-tale chemical evidence persists to at least age 5.

Fallin says she hopes this area of research has broader reach. With smoking, she says, it is relatively easy to determine whether someone was exposed prenatally: You simply ask the mother or ask someone whether their mother smoked while she was pregnant. But exposures to other toxins are more difficult to tease out. For many, the mother may not know whether she was exposed.

To learn more, also see:

What is epigenetics, and what does it have to do with autism?

Your Dollars@Work: Investigating early influences on autism risk

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A newly published study provides the first “best practices” guidelines on the inpatient psychiatric care of children affected by autism and/or intellectual disability.

Children with autism are hospitalized in psychiatric units much more frequently than are typically developing children. Unfortunately, fewer than a dozen U.S. hospitals have specialized psychiatric care units for children with developmental disorders, notes study senior author Matthew Siegel, a child psychiatrist and director of the Developmental Disorders Program at Maine Behavioral Healthcare’s Spring Harbor Hospital.

“Kids with autism or intellectual disability now make up 10 to 20 percent of the population in most child psychiatric units in the United States,” Dr. Siegel says. “That’s simply too many to have hospitals try to just get by using their typical approach.”  

A panel of autism specialists – including pediatricians, psychiatrists and psychologists – wrote the new autism-specific guidelines for pediatric psychiatric hospitals and units. They address a number of crucial yet frequently overlooked issues that should be addressed whenever a child or teen with autism is admitted for inpatient psychiatric care for severe emotional or behavioral problems. They include:

* Thorough screening for hidden medical issues that may be causing the emotional or behavioral problems. These include sleep disturbances, seizures, constipation, dental problems, ear infections and overlooked injuries. This is particularly important for nonverbal and minimally verbal children who have difficulty communicating their pain or distress.

* Evaluation and support of the child’s communication and sensory challenges. These need to be identified at admission and addressed throughout the hospital stay.

* Creation of an autism-supportive environment and programming. Difficulty understanding expectations and verbal directions can make following rules particularly difficult for children with autism or intellectual disability.

*Train all hospital staff on how best to work with children who have autism. Everyone who works with the child needs to understand and become skilled in the behavioral, communication and de-escalation strategies that work best with children who have autism.

In the coming weeks, the full guidelines – “Psychiatric Hospitalization of Children with Autism or Intellectual Disability: Consensus Statements on Best Practices” – will be made available, free of charge, on PubMed Central here. Meanwhile, the abstract and first page of the study can be viewed in the Journal of the American Academy of Child and Adolescent Psychiatryhere.

Listen to a podcast interview with Dr. Siegel, discussing the new guidelines here.

A new study in the Journal of Developmental and Behavioral Pediatrics provides a first look at the prevalence of autism spectrum disorder (ASD) among 4-year-olds. Researchers studied health and educational records for ASD indicators from a subset of the sites participating in the 2010 Autism and Developmental Disabilities Monitoring Network – a network connected with the Centers for Disease Control (CDC).

The key finding shows that prevalence among 4-year-olds was 30 percent lower than CDC estimates for 8-year-olds. The sample used in the new study involved children who turned 4 in 2010, while current CDC prevalence numbers are based on children who turned 8 in 2010. This new data does not replace the CDC prevalence estimate of 1 in 68 at age 8, but it does provide new insight into early diagnosis.

Autism Speaks Director of Public Health Research Michael Rosanoff said, “The difference in prevalence is likely explained by the fact that some 4-year-old children with autism were missed by these study methods.”

The study utilized record-review surveillance methods, which are very similar to the methods the CDC used in its previous research on 8-year-olds. Rosanoff said the methodology could have also contributed to the variation adding, “Less severely affected children were more likely to be missed at 4 years of age than at 8 years of age. These findings may not account for 4-year-olds who may have been diagnosed at a later age.”

The study also examined age of first diagnosis and found that 4-year-olds received their diagnosis an average of three months earlier than the 8-year-olds previously studied.

Rosanoff said, “While autism in many cases can be reliably diagnosed as early as 2-years-old, the average age of diagnosis in the U.S. still remains greater than 4.”

Dr. Paul Wang, Autism Speaks senior vice president and head of medical research, said the findings offer some good news. “The data suggest we are making progress in bringing down the age of diagnosis, but there are still many children who are not diagnosed at age 4, when we want to start appropriate interventions earlier than that. We need to continue to work to bring down that age.”

Dr. Wang added, “It's also clear that when there are concerns, a comprehensive evaluation is critical, and in too many communities, the medical system is not up to the task.”

A new study in JAMA Pediatrics examines health records to assess the possible risk of autism spectrum disorder (ASD) in children whose mother’s took antidepressants during pregnancy. The findings indicate an increased risk of ASD diagnoses in children who were exposed to the type of antidepressants known as selective serotonin reuptake inhibitors (SSRIs) during the second and third trimesters of pregnancy.

Researchers conducted a study of more than 145,000 births over a nine year span. They found 1054 children (0.7 percent) were diagnosed with ASD – which represents an 87 percent increased risk than children not exposed to antidepressants.

Epidemiologist and Autism Speaks Director of Public Health Michael Rosanoff said those findings require important context. “Risk does not equal cause. Eighty-seven percent risk is actually very modest. If the average child has a 1 percent risk, then these children had an 1.87 chance. It may be a risk factor, but according to this study it increases the risk only modestly.”

Rosanoff also urged women with depression to seek medical guidance if they have any doubts. “Women who have depression and are pregnant or considering becoming pregnant should discuss their concerns with their doctors before making any changes to their current medical treatment. There is no evidence to suggest a women should change her medication at this time, but it’s important to understand the risks and benefits of any medication, especially during pregnancy.”

Previous studies have actually supported antidepressant use during pregnancy, and this study appears to exclude some of those variables.

Autism Speaks Director of Medical Research Dr. Paul Wang said, “This study suggests that there is some kind of connection between depression, prenatal development, and autism. But it doesn't prove that antidepressants cause autism. Antidepressants appear to decrease the chance of prematurity, which is itself a risk factor for autism. The researchers of this new paper did not account for all babies who were born prematurely, so they did not capture this possible protective effect.” 

Dr. Wang also pointed to previous research that indicates depression and autism may share genetic ties. “Some of the genes related to depression also raise the risk of ASD.” 

These new findings add to existing research, which looks for links and possible risk factors associated with ASD, particularly during pregnancy. Rosanoff offered this perspective, “This study does fit in with the larger body of autism research suggesting that the prenatal period is a critical window for a child's neurodevelopment, which appears to be particularly sensitive to possible environmental factors during the second and third trimesters.”

Our understanding of autism deepened and broadened in 2014, with scientific publications on an unprecedented number of advances and discoveries. They included the revelation of a previously unknown connection between the brain and the immune system and the reassuring results of the largest-ever comparison of autism rates among vaccinated versus unvaccinated children. At the same time, one of science’s first deep dives into the autism genome revealed that the condition’s genetic underpinnings are even more complex than previously thought.

What did our community think about these advances? To answer that question, here are our most-read and shared autism research stories of 2014:

#10 Autism and apraxia: The importance of screening for both
In June, researchers reported that this otherwise rare speech disorder affects nearly 65 percent of children who have autism. Their report, in the Journal of Developmental and Behavioral Pediatrics, emphasized the importance of screening for both conditions when evaluating a child for either one. Apraxia involves difficulty coordinating the muscles involved in speech production and warrants a specific type of therapy not otherwise part of an autism intervention program. Read more…

#9 Study finds that half of all autism cases trace to rare gene-disabling mutations
In September, investigators reported that at least half the time, autism traces to one of roughly 200 gene-disabling mutations found in the child but neither parent. Many of these mutations completely destroy the function of genes crucial to early brain development, the researchers found. With further study, the new list of “high impact” autism risk genes may prove helpful for identifying and guiding treatment of autism’s many subtypes. Read more…

#8 Doctors, listen up! Parents can spot autism long before diagnosis
Lonnie Zwaigenbaum is one of the world’s leading experts on how to identify autism as early as possible. But this year, his research team found that physicians like himself would do well to listen to a more insightful group of experts – parents. Their report, in the Journal of the American Academy of Child and Adolescent Psychiatry, described how parents’ concerns at 12 months accurately predicted a later autism diagnosis. Read more…

#7 Large study on parental age and autism finds increased risk among children of teen moms
In June, we learned the results of the largest international study of parental age and autism risk. The surprise: high rates of autism among the children of teen moms. The study also confirmed earlier research showing that autism rates rise steadily with parental age after 40. “These results suggest that multiple mechanisms are contributing to the association between parental age and ASD risk,” the investigators concluded. They also emphasized that though parental age affects the risk for autism, the vast majority of children born to both older and teen parents will not be affected. Read more…

#6 ADHD symptoms can delay autism diagnosis for years
Writing in the journal Pediatrics, investigators reported that the symptoms of attention deficit and hyperactivity disorder (ADHD) can significantly delay the identification of autism. In the new study, children initially diagnosed with ADHD received their autism diagnosis an average of three years later than did children who had autism without ADHD. The finding is especially important give that more than half of all children affected by autism also have ADHD or some of its symptoms. Because early intervention can make a crucial difference for young children with autism, the authors urged careful evaluation for autism in children with symptoms of ADHD. Read more…

#5 Largest-ever autism genome study finds most siblings have different autism risk genes
In January, the largest-ever autism genome study revealed that the condition’s genetic underpinnings are even more complex than previously thought: Even within a family, most affected siblings have different autism-linked genes. Led by geneticist Stephen Scherer, director of the Autism Speaks MSSNG project, the report made the cover of Nature Medicine. Read more…

#4 Researchers urge greater attention to autism-related food issues
In July, a study of more than a hundred children ages 3 to 11 confirmed that those affected by autism have high rates of food aversions, or extremely selective eating. Their parents reported more mealtime behavior problems, higher spousal stress and significant limitations to what the family ate, compared to the parents of typically developing kids. The investigators called on physicians and therapists to give greater attention to autism-related eating issues. The good news: Autism-specific behavioral therapies have proven effective at broadening diets and improving mealtime for the whole family. Read more…

#3 No MMR-autism link in large study of vaccinated versus unvaccinated kids
In April, the Journal of the American Medical Association (JAMA) published the largest-ever study comparing autism rates among vaccinated versus unvaccinated children. The investigation – which followed more than 95,000 children – echoed previous research in finding no link between autism and the measles-mumps-rubella vaccine. It included more than 15,000 unvaccinated children and nearly 2,000 children considered at high risk for autism because they were born into families already affected by the condition. Read more …

#2 Study links autism to epigenetic changes in dads’ sperm
Also in April, researchers reported an unusual abundance of “epigenetic” changes to the DNA of sperm from men whose young children had autism symptoms. Epigenetics involves the control of when and where a gene is active. Because epigenetic changes in sperm can be passed on to offspring, they may affect early brain development, the investigators proposed. As for what caused the epigenetic changes, the researchers note that they can accumulate in a man’s sperm-producing cells as a result of exposure to toxic chemicals, infections and other environmental hazards over a lifetime. This accumulation with age might help explain the high rates of autism seen among the children of older dads. Read more…

#1 Discovery of brain-immune system link could advance understanding of autism
In June, University of Virginia neuroscientists reported their discovery of a previously undetected system of lymph vessels in the membranes surrounding the brain. Their discovery dramatically changed scientific understanding of the connection between the brain and immune system and could advance understanding of inflammation’s role in neurological conditions such as autism. Read more …

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For the first time, researchers have documented a direct link between the severity of someone’s autism symptoms and brain levels of the neurotransmitter GABA, or gamma-aminobutyric acid. The findings advance hope for treatments that ease autism symptoms by enhancing the action of GABA – the brain’s primary “calming,” or inhibitory, neurotransmitter.

The study appears today in the journal Current Biology.

“Often, people with autism have trouble filtering irrelevant sensory information, and it’s long been thought this might have something to do with inhibition in the brain,” says study leader Caroline Robertson, a researcher with the Harvard Society of Fellows, in Cambridge, Mass.

Nearly a decade of basic research has suggested that reduced GABA activity in the brain plays a role in producing autism’s hallmark symptoms. But most of this research involved laboratory animals and genetic studies. The new study is the first to test the idea that GABA underlies autistic symptoms in people.

The researchers enrolled 41 participants – 21 of whom were mildly to severely affected by autism. The others were unaffected by the condition.

The participants performed a task that involves inhibition in the brain. They looked through binocular lenses that showed a different image to each eye. Typically, the brain switches between focusing on one or the other of the two images. This requires the brain to “inhibit,” or suppress one image.

The 21 participants with autism were slower to discern the two images than were the participants unaffected by the condition. This reflected their ability to suppress the competing image. It’s also consistent with previous research showing that many people with autism struggle with tasks that require blocking out distracting sights, sounds or other sensory input.

What’s more, their performance scores directly reflected the severity of their autism symptoms.

Next, the researchers used magnetic resonance spectroscopy to measure GABA levels in each participant’s brain. Among the participants unaffected by autism, the ability to suppress the competing image during the perception test increased in direct proportion to GABA levels in their brains. By contrast, GABA levels showed no relationship to test performance among the participants affected by autism.

“This shows that the link between GABA and the ability to suppress competing images is completely absent in autism,” Dr. Robertson says. “It also suggest a disruption in inhibitory signaling in the autistic brain.”

Dr. Robertson and her team call for further research advancing the idea that increasing GABA signaling in the brain – perhaps through medication – could ease symptoms in people disabled by the condition.

“We want to see more research bridging the gap between animal and human research on autistic neurobiology, with the aim of developing new medications to ease symptoms in people disabled by the condition,” she said.

The study was supported by a Milton Fund grant from Harvard University, a Seed Grant from the Simons Center for the Social Brain at the Massachusetts Institute of Technology and an MIT-Mass General Hospital Grand Challenge Award.

Autism Speaks has funded and continues to fund a broad range of pioneering research on GABA's role in autism. Read about these and all of Autism Speaks funded research projects using this website's Grant Search Engine. This work is made possible by the passion and generosity of the Autism Speaks community.

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