The journal Molecular Autism has launched an ongoing series of open-access research articles and accompanying podcasts on understanding sex/gender differences in autism. The podcasts feature interviews with leading researchers discussing their investigations and have accompanying links to the full text of their published findings.

The journal will continue to add to this open-access collection on sex/gender differences as additional articles publish. Current podcasts and papers include:

Christine Wu Nordahl on anatomical brain differences in preschool girls versus boys
“The entire field of medicine is moving towards this notion of individualized medicine and understanding certain gender differences … how they influence diagnosis and treatment can only move us towards this goal of really treating each individual based on their symptoms and biology.” – Christine Wu Nordahl, University of California, Davis

* Listen to the podcast here.
* Read Dr. Nordahl’s research paper here.

Valerie Hu on a key biochemical difference in the brains of males versus females with autism
“This new study suggests another mechanism for the higher autism susceptibility in males that is linked to RORA deficiency…. It’s just one aspect to personalized medicine, where one takes into account the genetics and the underlying biology within a given individual; in this case we’re adding sex as part of the underlying biology.” – Valerie Hu, George Washington University

Note: This research was made possible by post-mortem donations to the Autism Speaks Autism Tissue Program, which is now part of Autism BrainNet. Learn more about Autism BrainNet and post-mortem tissue donation that advances understanding of autism here.

* Listen to the podcast here.
* Read Dr. Hu’s research findings here.

Jake Gockley and Stephan Sanders on the genetics of the “female protective effect” in autism
“Understanding sexual dimorphism in the brain and how genetic risk factors could potentially confer autism risk in a sex-specific manner is vital in treating autism in its entirety and ensuring that specific subsets aren’t set at a disadvantage.” – Jake Gockley, Yale University School of Medicine

* Listen to the podcast here.
* Read Dr. Sanders and Gockley’s research paper here.

Donna Werling on differences in autism risk associated with having a sister versus brother with autism
“Autism is such a heterogeneous condition. It has a spectrum-like presentation. There are up to 1,000 genes involved in risk. And yet the male bias in autism is so persistent.… Harnessing the component of sex differential biology involved in risk could be useful in a wide range of patients across that heterogeneous spectrum.” – Donna Werling, University of California, Los Angeles

* Listen to the podcast here.
* Read Dr. Werling’s research paper here.

Access the entire special collection here.

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

The University of Missouri Medical School has honored autism specialist and pediatric gastroenterologist Timothy Buie with its 2015 Take Wing Award. The annual award honors a graduate for excellence in his or her chosen field of medical practice and research.

Dr. Buie is a pioneer in the treatment of gastrointestinal (GI) conditions in children with autism. He serves as the director of gastroenterology and nutrition at the Lurie Center for Autism at the Massachusetts General Hospital for Children. The center is one of 14 sites in the Autism Speaks Autism Treatment Network (ATN).

Dr. Buie has published a broad range of research papers and book chapters on the GI problems common among children with autism. He has also developed guidelines for healthcare providers in recognizing and addressing these issues.

Dr. Buie recently developed and co-produced the Autism Speaks online medical video series “Office Hours with Dr. Tim Buie,” featuring such topics as:

Autism and probiotics

Autism and acid reflux

Autism and GI-related sleep disturbance

Exploring autism’s gut-brain connection

Follow the title links to view the videos and their accompanying Q&A’s with Dr. Buie.

* Learn more about the Autism Speaks Autism Treatment Network here.
* Find the ATN center nearest you here.
* Explore our archive of ATN expert-advice blogs and news stories here.

As Congress considers the 21st Century Cures Act, advocates for the autism community joined leaders in science and government today at the Autism Speaks 2015 National Leadership Summit in Washington, DC.

The day’s events began with a science panel and briefing and precede a full day of lobbying by hundreds of Autism Speaks supporters on Capitol Hill.

“Our goal is to determine how we can collaborate to do more good, in more places, for even more people affected by autism in every community in the country,” said Autism Speaks President Liz Feld.

Looking into the audience, Ms. Feld thanked Towson University men’s basketball coach Pat Skerry for starting the autism awareness program Coaches Powering Forward. She also thanked Autism Speaks volunteer and ethnic diversity activist Helen Taylor for “reminding us to practice what we preach” and representatives from Alpha Xi Delta fraternities and sororities for “embracing this mission in a way you really can’t find anywhere else,” among others.

The race for 21st Century Cures
The co-sponsors of the 21st Century Cures Act, Rep. Fred Upton (R-MI) and Rep. Diana DeGette (D-CO), together delivered the keynote presentation, “The Race for 21st Century Cures.” They described how they have looked at, “the full arc of this process,” from the discovery of clues in basic science, to streamlining the drug and device-development process, to unleashing the power of digital medicine and social media in treatment delivery. Their initiative, they said, is aimed at “closing the gaps between advances in scientific knowledge about cures and the regulatory policies created to save more lives.”

U.S. Senator Kelly Ayotte (R-New Hampshire), who co-sponsored the 2014 Autism Cares Act, underscored the importance of the Achieving a Better Life Experience Act (ABLE). ABLE became law in 2014, following advocacy efforts by Autism Speaks and other disability organizations. It enables states to offer 529-savings plans for people with disabilities. “We need to empower individuals to live the best quality life,” Sen. Ayotte said. “The ABLE Act is a tremendous step forward.”

In related remarks, Jo Handelsman, associate director for science in the White House Office of Science and Technology Policy, discussed the importance of President Obama’s Brain Initiative, launched in 2014, and the President’s Precision Medicine Initiative, launched earlier this year.

Putting families first
Autism Speaks Chief Science Officer Rob Ring expressed appreciation for the morning’s unprecedented gathering of “those who are leading the charge” in delivering personalized treatment for autism and other developmental disorders. “In our research, we need to think of autism as a whole body disorder and not just a disorder of the brain,” he said. “And we need to put the individual and their families into the centerpiece of this research.”

Venture philanthropy delivers products and services
Autism Speaks’ Dan Smith discussed the role of venture-capital philanthropy in delivering much-needed services and products to the autism community. Dr. Smith is Autism Speaks’ vice president for innovative technology and president of its not-for-profit affiliate DELSIA (Delivering Scientific Innovation for Autism). Autism Speaks created DELSIA in 2012 to support the commercial translation of scientific breakthroughs and technological advances into products for the autism community. Learn more about DELSIA here.

The revolution driving autism research
With Al Jazeera America correspondent Mary Snow as moderator, the science panelists explored how the revolution in genomic medicine – epitomized by Autism Speaks’ MSSNG collaboration with Google – is deepening understanding of autism and speeding research that can deliver personalized treatments. The MSSNG project (pronounced “missing”) is sequencing the genomes of 10,000 individuals in families affected by autism.

Thomas Insel, director of the National Institute of Mental Health highlighted the federal government’s increased focus on research that can deliver immediate benefits to the autism community. “Some of the things we can do to make a difference right now include early detection, early intervention and making sure we can deliver services that help adults,” he said.

Panelists also included Richard Mohs, Eli Lilly’s vice president for neuroscience clinical development. “I would like people to understand that we shouldn’t be afraid to fail,” he said of the search for new medicines to treat autism’s core symptoms and related health issues. “But hopefully these failures are informative failures.” The “good news,” he added “is that with new technology, finding targets is easier.”

Mary Woolley, president of Research!America, described why her organization’s mission is to relentlessly fight to make medical research a higher national priority. “We speak out in ways that people who work for the federal government can’t,” she said. “They’re constrained as federal employees … but we can say we need a lot more money!”

And panelist Megan Anderson Brooks, of The American Brain Coalition, discussed the coalition’s partnership with Autism Speaks in supporting the 21st Century Cures Initiative.

The morning scientific session was followed by panels on family services and legislative agendas. For coverage of these sessions, click here.

A new study finds that many young children who don’t meet the full criteria for an autism diagnosis nonetheless struggle with varying degrees of autism symptoms. Their challenges deserve attention and early intervention services, the researchers conclude. 

"Our study demonstrates the importance of recognizing autism-related challenges among different types of children, including those with or without an autism diagnosis,” says lead author Lisa Wiggins. “Recognizing autism symptoms in early childhood may encourage interventions catered to the individual child and help researchers learn more about the various ways autism develops."

The findings– part of the larger Study to Explore Early Development (SEED) – appear in the Journal of Autism and Developmental Disorders.

SEED is an ongoing research initiative by the Centers for Disease Control and Prevention (CDC). It is following the development of more than 2,000 children, ages 2 to 5, from diverse communities across the United States. SEED’s in-depth assessments of the children allowed Dr. Wiggins and colleagues to group the children into four categories:

* Children who qualify for a diagnosis of autism spectrum disorder (ASD)

* Children with other developmental delays and some autism symptoms

* Children with other developmental delays and no autism symptoms

* Children who are developing typically

Around a third of the children with “other developmental delays” also had some symptoms of autism. For example, a child might avoid eye contact, have little interest in other children or get extremely upset by minor changes in routine. Any one or two of these symptoms are insufficient for a diagnosis of ASD. But they can create significant challenges in daily life, the researchers note.

Of the four groups, the children diagnosed with autism clearly had the most problems with learning, challenging behaviors and interacting with others. They were also more likely to have parent-reported symptoms of sensory integration disorder. Sensory integration involves processing and responding to sights, sounds, touch, smells, tastes and other sensations.

Children classified as “other developmental delay with ASD symptoms” had significantly more problems with learning, challenging behaviors and interacting than did the children with developmental delay but no ASD symptoms. Those with developmental delay and ASD symptoms were also more likely to have parent-reported attention deficit/hyperactivity disorder (ADHD) than were the children in any other group.

While the children with diagnosed autism had the greatest need for early learning and behavioral interventions, the investigators concluded that many of those with lesser autism symptoms would likewise benefit from early intervention.

These results support earlier findings – by the Autism Speaks Baby Siblings Research Consortium– that there is a “broader autism phenotype” that includes children whose symptoms fall short of warranting a diagnosis, but who nonetheless would likely benefit from autism-related services. The consortium found that nearly one in three younger siblings of children with autism fall into this group. This is in addition to the one in three younger siblings of affected children who themselves develop autism.

To learn more, see “Study Looks Beyond the Risk of Autism in Baby Siblings.”

The CDC continues to recruit SEED study participants, ages 2 to 5, and their families at sites across the United States. (See map below.) Its research goals include greater understanding of the behavioral and health challenges that often affect children with autism. The study is also designed to foster inclusion of children from groups such as minority communities that have been under-represented in autism research.

To learn more about SEED, including participation, click here.

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

The largest-ever study of a suspected link between cesarean delivery and autism confirms an association but suggests that it’s due to a shared trigger. In other words, the C-section procedure itself does not appear to increase the risk that a child will develop autism. Rather, one or more common, underlying factors may increase the likelihood for both.

The findings appear online today in the medical journal JAMA Psychiatry.

“While this study supports earlier findings of an association between cesarean and autism risk, it adds important information to the picture,” comments epidemiologist Michael Rosanoff, Autism Speaks director for public health research.

The researchers analyzed the health records of more than 2.7 million Swedish children. This included 13,411 pairs of siblings in which only one had autism and 2,555 sibling pairs where one was born by cesarean and the other by unassisted vaginal delivery.

Confirming the results of smaller studies, the researchers found that, overall, autism rates among children born by cesarean were around 20 percent higher than that of children born by unassisted vaginal delivery. This was after controlling for possible confounding risk factors such as extreme prematurity.

The researchers then went further – to look at differences between the sibling pairs. They found no significant difference in C-section rates between those who developed autism and those who did not.

As a result, the authors conclude, “It is more likely that birth by cesarean section is related to some unknown genetic or environmental factor that leads to increased risk of both [autism and C-section].”

For example, a fetus with developmental issues may have low muscle tone that can interfere with moving into proper position for natural delivery. In this and other ways, the fetus plays a crucial role in initiating and advancing natural labor, explains developmental pediatrician Paul Wang, Autism Speaks head of medical research.

“The findings are reassuring since cesarean section is often a life-saving procedure for both mother and child,” Dr. Wang adds. “At the same time, it underscores how crucial it is that women receive optimal healthcare including well-pregnancy care, beginning before conception and through delivery.” 

For related research news, also see:

CDC study supports link between autism and pregnancy problems

Avoiding toxic exposures during pregnancy

Prenatal folic acid reduces autism risk

Study finds moderate exercise during pregnancy promotes newborn brain development

According to a pair of small studies, a reading program that capitalizes on the strengths of students with autism both improves their comprehension and establishes new connections between areas of the brain involved in understanding language.

The two related reports appear online ahead of print in the journals Autism Research and Human Brain Mapping.

Reading comprehension challenges are common among children who have autism. Indeed, many of these children initially appear to be “hyperlexic,” having vocabulary and reading speeds far beyond what’s typical for their age. But on closer examination, they often lack understanding of what they read.

Research has also shown that, as a group, children with autism have decreased connectivity between the areas of the brain involved in making sense of incoming information – including written and spoken language.

The program being studied encourages students to visualize images when they read and hear language.

“People with autism are relatively better at visual-spatial processing,” explains senior author Rajesh Kana, a psychologist at the University of Alabama-Birmingham. “The intervention facilitates the use of such strengths to ultimately improve language comprehension.”

Called the Visualizing and Verbalizing Program, the intervention was developed by educator Nanci Bell and speech-language pathologist Patricia Lindamood. They also established a chain of education centers and summer camps that offer related programs.

The University of Alabama research is the most recent in a series of studies on their methods.

The study participants included 13 children with autism, ages 8 to 13 years. All could read aloud well but had poor comprehension of what they were reading at the beginning of the study. For comparison, the study also included an age-matched group of children placed on a wait list for the program.

The participating children received 200 hours of instruction – four hours a day, five days a week.

The students took reading comprehension tests before and after the program. The researchers also used functional magnetic resonance imaging (fMRI) to track brain activity and connectivity at the beginning and end of the study.

The investigators reported seeing significantly increased brain activation and connectivity between two of the brain’s core language areas. Further, this increased activity and connectivity corresponded to the amount of improvement each student showed in reading comprehension.

“The ASD brain processing after intervention looks richer, with visual, semantic and motor coding that is reflected by more active visual activity and involvement of the motor areas,” Dr. Kana says.

By contrast, the same tests showed no significant changes in reading comprehension or brain activity in the control groups.

“Children with autism have many strengths, and these studies show the importance of using strengths-based models of intervention to support their growth and development,” comments Lucia Murillo, Autism Speaks’ assistant director for education research. “It’s important to remember that we need to identify such strengths in order to individualize the most effective learning programs.”

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

“Oxytocin has been of keen interest to neuroscientists since the 1970s, when studies started to show that it could drive maternal behavior and social attachment,” writes science journalist Helen Shen in this week’s Nature. “That view has led some clinicians to try oxytocin as a treatment for psychiatric conditions such as autism spectrum disorder. But the early trials have had mixed results, and scientists are now seeking a deeper understanding of oxytocin and how it works in the brain.”

In particular, Shen writes, “scientists are concerned by reports from the physicians and parents of children with autism spectrum disorder who say that they are already using oxytocin off-label — before it has been thoroughly tested. Indeed, some studies have found the prolonged use can worsen rather than improve autism symptoms.

On the promising side, Shen quotes researchers as welcoming a new era of collaborative research on oxytocin.

If scientists can work across disciplines to decipher how oxytocin helps the brain process social information, this might lead to the design of behavioral therapies that could be given alongside the hormone to maximize its potential.

Read Shen’s excellent – and open access – news feature here.

We hope you enjoy this glimpse behind the scenes as Autism Speaks and Google collaborate to create and expand the world's largest genomic database for autism research - dedicated to transforming the future of those affected by autism through open-access science.

Learn more at MSS.NG.

A new study finds that the relatively rare speech disorder apraxia affects nearly 65 percent of children with autism. The finding is important because apraxia warrants a specific type of therapy not otherwise part of an autism intervention program.

"Children with apraxia have difficulty coordinating the use of their tongue, lips, mouth and jaw to accurately produce speech sounds, so that each time they say the same word, it comes out differently, and even their parents have difficulty understanding them," explains developmental behavioral pediatrician Cheryl Tierney, of the Pennsylvania College of Medicine.

Dr. Tierney co-authored the new report, in the Journal of Developmental and Behavioral Pediatrics. In it, she and her colleagues emphasize the importance of keeping both conditions in mind when evaluating a child for either one.

The researchers assessed 30 children, ages 15 months to 5 years, seen at their developmental communication clinic. Their follow-up testing showed that 64 percent of the children initially diagnosed with autism also had apraxia, and 37 percent of the children initially diagnosed with apraxia also had autism. By contrast, apraxia occurs in just 1 or 2 out of 1,000 children in the general population. Autism affects 1 in 68.

Developmental experts have long noted autism and apraxia frequently coincide. The new study, though small, underscores just how commonly this overlap may occur.

Both conditions can be improved with early intervention, though each warrants a different intervention. In particular, the researchers emphasize that nonverbal children diagnosed with either autism or apraxia should continue to be screened for the other condition until they start talking.

"Children with autism frequently present with communication challenges including delayed speech and language development," notes speech-language pathologist Donna Murray, senior director of the Autism Speaks Autism Treatment Network (ATN). "Speech-language pathologists are trained to identify the signs and symptoms of apraxia and will be able to assist families of children with autism in understanding the nature of their child’s communication delays and develop an intervention plan to treat apraxia if needed."

Learn more about apraxia from the American Speech-Language Hearing Association here.

The 14 centers in the Autism Speaks ATN can provide such services and/or help families find appropriate specialists in surrounding communities.

* Learn more about the Autism Speaks Autism Treatment Network here.
* Find the ATN center nearest you here.
* Explore our archive of ATN expert-advice blogs and news stories here.

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

The International Society for Autism Research (INSAR) and SFARI.org (the independent news site of the Simons Foundation for Autism Research) invites the Autism Speaks community to participate in a free series of weekly interactive presentations on key topics in autism research.

The “Summer Institute for Autism Research” is designed for college students and early-career scientists interested in autism, though all are welcome to participate.

The lineup of speakers includes: Kevin Pelphrey (brain function and structure), Lynn Koegel (early intervention), Cathy Lord (diagnosis and identification), Matthew State (genetics), Jeremy Veenstra-VanderWeele (pharmacological pipelines) and Joseph Buxbaum (animal models).

A new session will be broadcast every Thursday through July 23. Each two-hour session will feature approximately 90 minutes of presentation that includes background, emerging data and next steps for the field. This will be followed by 30 minutes of discussion moderated by members of the INSAR Student and Trainee Committee along with other junior researchers in the field.

Advance registration is free, and participants can download course materials, including suggestions for further reading, a glossary of terms, learning objectives and discussion questions. Video replays and materials from past sessions are likewise available to all.

Learn more and register here.

On June 16, Al Jazeera America correspondent Mary Snow moderated “The Revolution Driving Autism Research,” as science panelists explored how the revolution in genomic medicine – epitomized by Autism Speaks’ MSSNG collaboration with Google – is deepening understanding of autism and speeding research that can deliver personalized treatments. 

Panelists included Autism Speaks Chief Science Officer Rob Ring, National Institute of Mental Health Director Tom Insel, Eli Lilly’s Vice President for Neuroscience Clinical Development Richard Mohs and Research!America President Mary Woolley.

View the half-hour panel discussion above.

Also see “Autism research, treatment & services get major push on Capitol Hill.”

Researchers are calling on doctors and therapists to give greater attention to autism-related food aversions in light of findings that these issues place significant stress on the entire family. While confirming that extremely narrow eating is common among children with autism, their studies also find that it disrupts family mealtimes, increases parents' stress levels and restricts what the entire family eats.

“While such findings come as no surprise to families affected by autism, they should be on the radar screens of those working with children affected by autism,” says study co-author Carol Curtin. Curtin directs the Center for Excellence in Developmental Disabilities at the University of Massachusetts Medical School.

“It’s critical that clinicians and dietitians understand the unique issues that families of children with autism face during mealtimes,” Curtin adds. “[They need] to offer families support in addressing these challenges."

Do you or your child have autism-related feeding or eating issues? Send your questions and look for expert advice in Autism Speaks’ “Food for Thought” blog column.

The UMass study appears online ahead of print in the Journal of Autism and Developmental Disorders. The investigators enrolled 53 children with autism and 58 typically developing children between the ages of 3 and 11 years. Their parents completed in-depth questionnaires that assessed eating patterns, food intake and family interactions at mealtimes. As a group, the children with autism had significantly more self-imposed food restrictions and their parents reported more mealtime behavior problems, higher spousal stress and significant limitations to what the family ate.

Also see the Autism Speaks ATN/AIR-P Guide to Exploring Feeding Behavior in Autism. This tool kit provides guidance from experts in the Autism Speaks Autism Treatment Network.

Further evidence of the toll on family and child come with a related report in the journal Appetite. Valentina Postorino and colleagues at Rome’s Children's Hospital Bambino Gesù followed 158 children with autism, half of whom were highly selective in what they would eat. Overall, the parents of the children with extremely narrow diets reported higher levels of stress and greater challenges with their child’s behavior.

In addition, the Italian researchers found that at all the children with restricted diets had at least one – and often more – hypersensitivity to particular textures, flavors or other sensory aspects of food.

“Food selectivity is a significant stressor for families with a negative impact on quality of life,” Dr. Postorino says. Contrary to hopes that children will simply “outgrow” the problem, she adds, research shows that food aversions persist without treatment.

The good news is that research has demonstrated the effectiveness of autism-specific behavioral therapies aimed at broadening diets. These interventions range from in-patient, feeding-disorder programs to in-home strategies for parents. The latter are particularly important, Curtin and her team write, and deserve further research and development.

For more information and advice on autism-related feeding issues, also see:

* Your ATN@Work: A model program for autism-related feeding disorders

* Parent of teen with autism seeks help with narrowing food choices

* Child with autism won’t eat foods that ‘smell’

* Will eating-disorder program help with autism-related food aversions?

* Family feels trapped: Child with autism refuses to eat outside home

In a newly published study, researchers describe the coping styles and attitudes that help keep spousal relationships strong and positive as parents care for a child who is affected by autism.

Their report appears this week in the Journal of Autism and Developmental Disorders.

"In our day-to-day work with families of children with autism, we have been struck by the strength of the parents and the strength of the marital bonds of many families," says senior author Michael Alessandri. Dr. Alessandri directs the University of Miami Center for Autism and Related Disabilities.

"Instead of perpetuating the 'doom and gloom' model of autism's effect on the family, we sought to look at families through a more optimistic lens," he says.

A substantial number of studies have documented the stresses that parenting a child with autism places on parents and siblings. In particular, the pressure can take its toll on the parents' relationship with each other. These findings have helped draw attention to the importance of supporting the entire family of a child affected by autism.

To understand what helps these moms and dads strengthen their bond, the University of Miami researchers tried to identify the factors associated with their spousal happiness.

For the study, 67 couples parenting a child with autism answered questionnaires measuring the link between specific personality traits and coping styles and their satisfaction with their relationship.

The most important factors – for both mothers and fathers – included seeking emotional support, receiving spouse support and “benefit finding” – the tendency to find the good in a bad situation. To a lesser extent, optimism and support from friends were likewise associated with greater relationship satisfaction.

"We want to highlight the reasons why those families do well," Dr. Alessandri says. "After all, it is the positive outcomes that will truly inform our clinical work and help shape more impactful treatments for families…. Strengthening these qualities should be the target of family-focused interventions."

Other important findings of the study include:

* A parent’s self-perceived strength also correlated with his or her relationship satisfaction.

* Mothers were more likely to rely on social support to help them cope with challenges.

* Mothers reported greater levels of “benefit finding” than did fathers.

* Overall, perceived partner support was more important to relationship satisfaction for mothers than it was for fathers.

* One partner’s high relationship satisfaction directly related to the high satisfaction of the other.

* Optimism was associated with greater individual satisfaction, but didn’t predict a partner's shared satisfaction.

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

Join Autism Speaks and the National Fragile X Foundation to support Fragile X Awareness Month this July. Fragile X is the leading cause of inherited autism linked to intellectual disability. Finding effective treatments and a cure for fragile X enhances our goal to change the future for all who struggle with an autism spectrum disorder.

In the video above, Katie Couric partners with Yahoo News to share important research findings on the fragile X gene and its link to autism. The video provides a glimpse into one family’s journey with fragile X and lends insight into the kind of research needed to “crack the codes” that will solve the puzzles of fragile X, autism and other brain-body conditions.

Katie also asks the all-important question, “If the fragile X protein is so critically important and may be related to a whole host of diseases, why is there not more funding for fragile X research?”  The answer is simple: We need to increase awareness.

Supporting families and advocating for fragile X research and awareness requires leadership and greater investment. Working together, we will find the missing pieces of the puzzle.

For more information, visit 5forfx.fragilex.org or call the National Fragile X Foundation at 800-688-8765.

The National Institutes of Health (NIH) has awarded a $900,000 grant to support one of the first basic-science studies exploring the observation that, in some people, fever eases the symptoms of autism.

The study follow up on the growing number of reports from parents who describe how the onset of fever – for instance during a cold – improves sociability and communication in children who have autism.

"Like many research topics, the phenomenon isn't totally unknown, but exact mechanisms linking body temperature and autism haven't yet been organized as a principle and unpacked to see how it could work," says senior investigator Jeffrey Alberts. Dr. Alberts heads a developmental psychobiology laboratory at Indiana University. His research associate Christopher Harshaw will lead the study.

Their team will examine two types of mice: those with genetic mutations that lead to autism-like social dysfunction and those whose ability to generate heat and regulate body temperature has been impaired. This will enable them to look at the basic biology linking temperature regulation to social behavior.

In the mice with autism-like symptoms, the IU scientists will examine the ability to maintain proper body temperature. In the mice with poor heat regulation, they will study social development from infancy to adulthood.

"We're predicting these two types of mice are going to intersect; that the inability to produce heat is going to affect individuals' social behavior, as well as affect their interactions with their mother and alter the dynamics of the group," Dr. Alberts says. "By the same token, in those with impaired social behavior, we expect to find problems maintaining body temperature."

The investigators will also compare the behavior and biology of both types of mice to a control group of mice with normal social and heat-regulating abilities.

Based on the reports from parents about fever and autism, the IU scientists predict that their research findings will produce important information to guide future studies enrolling people who have autism.

For more on this topic, also see:

Study finds fever may improve sociability in children with autism

Parents see son's autism symptoms ease during fever

Autism Speaks is pleased to announce its 2015 class of Meixner Postdoctoral Fellows in Translational Research. The fellowship program invests in rising talent in autism research and is made possible by a generous gift by the estate of the late Charles Meixner.

"Our dedication to translating research into real-world treatments and supports may be best epitomized by our continuing investment in this new generation of autism researchers,” says Autism Speaks Chief Science Officer Rob Ring. “These are the remarkable scientists whose careers will convert breakthroughs in science and technology into interventions that can transform lives.”

The Meixner Postdoctoral Fellowships in Translational Research support exceptional scientists beginning their careers in autism research as they pursue projects that include both laboratory research and clinical studies directly involving participants affected by autism.

Each fellow works under the guidance of two or more mentors who rank among the field's leaders in basic or clinical research. Each fellowship spans two years.

The estate of Charles Meixner established the program with a generous gift to Autism Speaks in 2013. Charles and his wife, Maria Teresa, were profoundly affected by autism when their five-year-old daughter Caroline was diagnosed with what was then termed infantile schizophrenia.

“Little was known about the disorder at that time and even less was available with respect to intervention and treatment,” said Meixner family spokesperson Hector de Marchena. “For this reason, our Uncle Charles made clear his desire to bequeath this gift to Autism Speaks.”

This year’s class of fellows and their projects are:

Alan Lewis, a psychiatrist pursuing research at Yale University, will study the safety, effectiveness and biological action of transdermal nicotine as a potential treatment for destructive and disruptive behavior in people who have autism.

Challenging behaviors are not a core symptom of autism. But many children and adults affected by autism struggle with behaviors that pose a danger to themselves and others. When behavioral intervention fails, medication options are extremely limited and often cause unwanted side effects.

Research has suggested that, in some individuals with autism, aggressive behavior may result from problems affecting the brain’s nicotinic acetylcholine receptors. The chemical nicotine engages these receptors. In addition, studies with animals suggest that administering nicotine reduces aggression.

Dr. Lewis will test the potential benefits of nicotine therapy to reduce harmful behavior in two ways:

He will conduct a pilot clinical trial to assess the safety and effectiveness of transdermal (skin patch) nicotine in reducing disruptive and destructive behavior in participants who have autism.

He will study the biological action of nicotine in the brains of laboratory mice bred to display aggression and autism-like behaviors.

Dr. Lewis’s mentors at Yale include neuroscientist Marina Picciotto and child psychologist Denis Sukhodolsky. 

Alexandros Kanellopoulos, at Belgium’s Vlaams Instituut voor Biotechnologie, will advance understanding of how mutations in the CYFIP1 gene produce autism-related communication problems. People with deletions or duplications of the CYFIP1 gene at are high risk for developing autism, epilepsy and/or schizophrenia. The gene regulates the production of proteins that play a crucial role in the function of the brain’s nerve cells (neurons).

In his clinical study, Dr. Kanellopoulos will enroll participants who have autism and mutations or duplications in the CYIP1 gene. He will assess their communication abilities and behaviors and those of their family members. This will help distinguish symptoms associated with the CYFIP1 mutation from behaviors stemming from other influences. In doing so, he hopes to increase understanding of the communication and behavioral difficulties associated with this mutation and guide the development of future treatments.

He will also study the neurons and behavioral abnormalities of fruit flies that have a genetic condition that reduces cell levels of the protein produced by CYFIP1. As part of this animal research, he will perform preliminary research on the effectiveness of potential treatments.

Dr. Kanellopoulos’s mentors at Vlaams institut voor Biotechnologie include neuroscientist Claudia Bagni and psychiatrist Jean Steyaert.

Sarah Baum, of Vanderbilt University, will explore possible causes of sensory-processing difficulties in people with autism. She will also investigate how these sensory difficulties contribute to communication challenges. Her goal is to advance the development of more effective treatment strategies for autism and sensory-processing disorders, which often go hand and hand.

In particular, Dr. Baum will explore the possibility that autism-related sensory challenges result from a highly variable, or inconsistent, brain response to incoming sensory information (sights, sounds, touch, etc.). This inconsistency may make it difficult for the brain to respond appropriately to sensory cues.

In her clinical study, Dr. Baum will study brain and physiological responses to sensory input in children affected by autism. She will use this information to design a training program aimed at improving sensory processing and communication skills in these children.

Dr. Baum will work in the Multisensory Research Lab of Mark Wallace (director of the Vanderbilt Brain Institute), with the additional guidance of speech-language pathologist and autism specialist Stephen Camarata.

Gil Sharon, of the California Institute of Technology, will explore autism-related changes in the microbiome – the community of digestive bacteria that colonize the intestinal tract – with the aim of understanding how they contribute to behavioral and gastrointestinal (GI) difficulties in people with autism.

Recent research has shown that many people affected by autism have abnormal levels of certain digestive bacteria. It is not yet known what causes these differences. However, the changes have been associated with both GI distress and body-wide inflammation.

In his study, Dr. Sharon will colonize the intestines of germ-free mice with transplants of intestinal bacteria from people who have autism. Germ-free mice are raised in a sterile environment to prevent them from developing their own microbiome. For comparison, he will also colonize mice with intestinal bacteria from people not affected by autism. He will then study the biological and behavioral differences in these two groups of mice.

Dr. Sharon’s research promises to advance understanding of how changes in the microbiome may contribute to autism’s core symptoms as well as to the GI distress that is common among people who have autism. In the process, he hopes to produce an important new line of animal models for studying autism and its potential treatments.

Dr. Sharon will work in the Caltech laboratory of microbiologist-immunologist Sarkis Mazmanian, with additional guidance by neurogeneticist Pat Levitt, at the Children’s Hospital of Los Angeles.

“Because autism is enormously complex and wide-ranging in its challenges, we welcome the broad scope of interests – from sensory and GI issues to molecular pathways in the brain – seen in these fellows and their projects,” says Paul Wang, Autism Speaks vice president and head of medical research. “By combining their fresh energy and new perspectives with the expertise and resources of their mentors, we expect to see their contributions to the well-being of people with autism continue for many years to come.”

Study abstracts for all four research projects can be found using the Autism Speaks Grant Search here.

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New research finds that a father’s early and interactive engagement in childcare is particularly important to a mother’s mental health when their child has autism.

Reporting in Maternal and Child Health Journal, the researchers looked for associations between a father’s style of caregiving when a baby was 9 months old and a mother’s symptoms of depression when their child reached age 4. In all, the researchers followed the parents of 3,550 children, including 50 children with autism and 650 children with other disabilities.

They found that mothers of children with autism reported significantly fewer symptoms of depression when their children were four years old if the father had read to the child as a baby or otherwise engaged in responsive caregiving activities such as soothing the baby or taking the baby to the doctor.

By contrast, the researchers did not find this strong association between a father’s early engagement with the baby and the mother’s later mental health among couples with typically developing children or whose children had other disabilities.

The involvement of fathers in caring for children with autism may be especially important, as previous research has shown that the mothers of children with autism tend to experience much higher levels of stress, depression and anxiety than do other mothers, the researchers conclude.

“It can be very frustrating for parents – and upsetting for children – when children struggle with communication … one of the key criteria of autism,” notes lead author Daniel Laxman, of the University of Wisconsin at Madison's Waisman Center. “If fathers are reading to their kids, telling stories or singing songs, it’s going to be very beneficial for the child's development of communication skills."

“Increased stress in families is a well-known consequence of raising a child with autism,” comments Lucia Murillo, Autism Speaks assistant director of education research. “Making sure the primary caregiver, which most often is mom, has a sufficient support system is extremely important. It’s likewise important to remember that grandparents, aunts, uncles and parent support groups can ease some of this stress.” (Dr. Murillo was not involved in the study.)

In addition, Dr. Laxman notes, some research has suggested that conflict can arise between parents when both become highly involved in child care. "It's important that parents try to be in as much agreement as possible,” he says, “and when they're not in agreement, to reach a decision so they're interacting with their children in a consistent way."

The families were participants in the National Center for Education Statistics Early Childhood Longitudinal Study-Birth Cohort, which collects information at ages 9 months, 2 years and 4 years. 

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Researchers are using stem-cell technology to create brain tissue from the skin cells of people with autism. In doing so, they have overcome one of the greatest challenges in autism research.

“Up until now, researchers studying the molecular and cellular basis of autism could use only animal models or donated post-mortem brain tissue,” explains developmental pediatrician Paul Wang, Autism Speaks’ head of medical research. “Unfortunately, we have only a limited amount tissue available in brain banks such as Autism BrainNet. And research in animals – while very useful – will always have limitations in translating results to people.”

So-called brain organoids – live bits of brain tissue under an inch in diameter – represent an important new research tool to help overcome these limitations, comments Dr. Wang, who was not involved in the research published today.

The report, by neurobiologists at the Yale School of Medicine, appears online in the journal Cell.

The researchers focused on a distinct subgroup of people with autism – those with severe autism associated with an enlarged brain. Around one-fifth of those with severe autism share this characteristic. The researchers took skin cells from four study participants and, for comparison, from their unaffected family members. For each person, they converted the skin cells into pluripotent stem cells and then induced these to develop into a simple form of brain tissue – the brain organoid.

When the researchers analyzed the organoids from the participants with autism, they found unusual changes in the development of neurons (brain nerve cells). For example, their organoids overproduced inhibitory neurons, which quiet brain activity. This led to an imbalance of inhibitory neurons over the excitatory neurons that increase brain activity.

Of particular interest, they found that they could correct this imbalance by blocking the expression of a single gene. This, they suggest, could provide a promising direction for research aimed at developing medicines that might ease some types of autism.

"This study speaks to the importance of using human cells and using them in an assay that could bring a better understanding of the pathophysiology of autism and with that, possibly better treatments," says senior author Flora Vaccarino, professor of child psychiatry and neurobiology at the Yale School of Medicine.

The investigators are now building on their findings by isolating more of the genetic and epigenetic factors responsible for the neuron imbalances they discovered. (Also see “What is epigenetics, and what does it have to do with autism?”)

With current technology, human brain organoids reach only very early stages of brain development – equivalent to a few months after conception. Research aimed at extending their growth to later stages of brain development is underway.

Learn why post-mortem brain donation is so important to autism research – and how your family can register – at Autism BrainNet, an initiative of Autism Speaks and the Simon’s Foundation. 

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A review of published research emphasizes the need to address significant nutritional issues among people with autism – across their lifespans.

The report highlights a wealth of studies showing that many children with autism have poor nutrition, likely resulting from extremely narrow eating habits. As a result, they may require nutritional supplements or fortified foods.

The same report flags the unacceptable absence of studies looking at nutritional issues among the rapidly growing number of adults with autism.

“We know that children with autism are at risk for nutritional problems, and this review is important for bringing further attention to the issue,” comments Autism Speaks Vice President for Medical Research Paul Wang, who was not involved in the study. “The authors are also absolutely right that we need to focus on the nutritional needs of adults with autism. This needs to include both the adequacy of current diets and the possible consequences of nutritional deficiencies they may have experienced in childhood.”

As an example, Dr. Wang notes the possible role that childhood nutrient deficiencies may play in the increased rates of bone fractures seen among adults with autism.

The scientific review article – "Nutritional Status of Individuals with Autism Spectrum Disorders: Do We Know Enough?" appears in the journal Advances in Nutrition.

Children and adults with autism can become malnourished due to the extremely narrow eating habits that often result from avoidance of new or unfamiliar foods, hypersensitivity to certain tastes and food textures and other mealtime behavior issues. As a result, it’s important for their physicians to assess whether they require nutritional supplements or fortified foods to ensure adequate nutrition, the authors urge.

The report cites a number of studies showing that children with autism are more likely to be significantly overweight or underweight. Restricted dietary patterns likely contribute to both issues. With obesity, other factors can include reduced physical activity and weight gain as a side effect of behavioral medications. Again, the authors urge doctors to evaluate and address such issues to improve the long-term health of their patients with autism.  

In terms of specific vitamin deficiencies of note, the report cites a number of studies that have found low levels of folate, vitamin B-6 and vitamin B-12 among children with autism. So common are these deficiencies, the authors write, that they might even be useful as biomarkers that help diagnose the disorder in very young children. 

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Today, the National Institutes of Health announced $28 million in funding for research that will improve the measures used to target, develop and evaluate new therapies for autism spectrum disorder (ASD).

Currently, autism is diagnosed and treated based on information gathered from clinical assessments and parent questionnaires. The Autism Biomarker Consortium will add to this knowledge by developing more-objective tools to measure social behavior. These will include the use of electroencephalography (EEG) to measure brain function, eye-tracking technology to measure visual attention and automated recording techniques to assess behavior and speech.

The consortium’s larger goals include identifying biological markers (biomarkers) that can be used as targets for technologies and treatments. Its ultimate goal is precision medicine — an emerging approach to treatment that takes into account each person’s genetics and needs.

“The heterogeneity in people with an ASD makes it imperative that we find more precisely diagnosed groups of research subjects so that we can objectively evaluate the clinical effects of an intervention,” comments National Institute of Mental Health Director Thomas Insel. “This consortium project will develop reliable tools and measures that clinical researchers can use to assess potential treatments.”

Autism Speaks collaborated with the National Institute of Mental Health and other consortium partners – including the Foundation for the NIH, the Simons Foundation Autism Research Initiative (SFARI) and the European Autism Interventions-A Multicentre Study for Developing New Medications (EU-AIMS) – to support the larger autism biomarker initiative that gave arise to this project. In addition, Autism Speaks remains engaged in biomarker research as a major partner in EU-AIMS.

James McPartland, of Yale School of Medicine, New Haven, Connecticut, will serve as the project’s principal investigator. Over the next four years, his team will recruit preschool and school-age children to participate in the national multi-center study

Research sites will include Yale University, New Haven, Connecticut; Duke University, Durham, North Carolina; the University of California, Los Angeles; the University of Washington, Seattle; and Boston Children’s Hospital.

For more information about the study, including participation, visit www.asdbiomarkers.org and/or email asdbiomarkers@yale.edu

All the information produced by the project will be made available for other researchers to view and analyze through the NIH-funded National Database for Autism Research and the NIMH Repository and Genomics Resource.

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