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Blood Test Shows Promise for Guiding Autism Diagnosis and Treatment

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New test associates autism with gene-expression patterns affecting immune system and proteins involved in brain development

New test associates autism with gene-expression patterns affecting immune system and proteins involved in brain development

March 13, 2015

In a new report, researchers describe their development of a novel blood test to identify gene-expression patterns distinctive to autism in infants and toddlers. The test, they say, has potential to be further developed for both diagnosing autism before full symptoms emerge and for guiding research on early treatments.

The study, led by researchers at the University of California-San Diego School of Medicine, appears online in JAMA Psychiatry.

In analyzing the blood samples, the UCSD researchers went beyond conventional gene testing to look at patterns of gene expression. In other words, they looked at which genes were turned “on” or “off” in blood samples from 215 toddlers, 131 of whom had autism.

Overall, the two groups of toddlers showed significantly different patterns of gene-expression related to immune function (inflammation) and protein production. The altered protein patterns were concentrated in pathways known to be crucial to early brain development.

“This study is important for identifying biological pathways that are affected in autism,” comments Paul Wang, Autism Speaks’ head of medical research. “The findings reinforce the theory that inflammatory and immune pathways are involved in autism’s development, alongside disturbances in protein synthesis.” Dr. Wang and Autism Speaks were not involved in the study.

In their study, the UCSD investigators ran two related but slightly different blood analyses with two different groups of young boys, ages 1 to 4. They plan a future study with girls, once they’re able to recruit a sufficiently large group.

In the first analysis, a state-of-the art gene-expression screen proved 83 percent accurate in distinguishing 87 boys with autism from 55 age-matched boys without the disorder. In the second analysis, a slightly older test was 75 percent accurate in distinguishing 44 boys with autism from 29 without the disorder. This is about the same accuracy as current autism-screening tests based on behavioral differences.   

“Given the small sample size, it’s not yet clear whether this type of testing can be helpful in screening the general population of children for autism,” Dr. Wang cautions. More promising, Dr. Wang says, is the potential for blood tests such as these to guide future autism treatments that target the distinct, underlying biology of each child’s challenges.

The UCSD team has begun larger studies using their new gene-expression screen with larger numbers of infants and toddlers.

Note: The lead and senior authors of the study – Tiziano Pramparo and Eric Courchesne – disclose that they have a pending patent application that includes data from their research.


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Unlocking the World of Nonverbal Children with Autism

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Boston University spotlights Autism Speaks-funded research aimed at helping nonverbal children with autism communicate

Boston University spotlights Autism Speaks-funded research aimed at helping nonverbal children with autism communicate

March 17, 2015

“Emily Browne is laughing and nobody really knows why,” writes science writer Chris Berdik, for Boston University Research News. “The 14-year-old with a broad face and a mop of curly brown hair has autism. She drifts through her backyard, either staring into the distance or eyeballing a visitor chatting with her dad, Brendan, and her 15-year-old sister, Jennifer on the nearby patio. That’s where the laughter started – a conversational chuckle from somebody on the patio that Emily answered with a rollicking high-pitched guffaw.”

But Emily can’t join the conversation, Berdik explains. She is among the 30 percent of children with autism who is minimally verbal or entirely nonverbal.

The feature story that follows spotlights several Autism Speaks-funded research projects – research made possible by the generosity and passion of our families, donors and volunteers.

To learn more about Autism Speaks-funded research at Boston University and its sister institutions, follow these links:

* Music as a Path to Language in Autism

* Novel methods for testing language comprehension in children with ASD

* Neurophysiological investigation of language acquisition in infants at risk for ASD

* Comparing AMMT vs. Control Therapy in facilitating speech output in nonverbal children with autism

For still more Autism Speaks-funded research focused on helping nonverbal children and adults, also see:

* Your Dollars@Work: Helping Nonverbal Children Speak

* Developmental and Augmented Intervention for Facilitating Expressive Language

* Promoting Communication Skills in Toddlers At Risk for Autism

* A Novel Parent Directed Intervention to Enhance Language Development in Nonverbal Children with ASD

Read the rest of “Unlocking Emily’s World” at Boston University Research News.

Explore all the research and family-service projects that Autism Speaks is funding using this website’s grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.
 

Assisted Reproduction & Autism: Single Births Reduce Risk

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Largest study of its kind confirms higher risk of autism with assisted reproduction; but effect disappears for single births

Largest study of its kind confirms higher risk of autism with assisted reproduction; but effect disappears for single births

March 19, 2015

In the largest study of its kind, researchers have confirmed that autism is twice as common among children born through assisted reproductive compared to natural conception. But they traced most of this increased risk to pregnancy and birth complications – especially those associated with multiple births (twins, triplets, etc.).

In fact, they found no increased rate of autism among children from assisted reproduction technology (ART) that resulted in a single birth.

The findings appear online today in the American Journal of Public Health.

"These results indicate that the higher autism risk may be due mainly to the large numbers of multiple births and complications of pregnancy and delivery among children conceived with ART," says lead researcher Christine Fountain, of Fordham University.

Addressing long-standing concerns

Assisted reproduction generally involves in vitro fertilization of one or more eggs that are then implanted in the mother’s womb. Assisted reproduction is associated with a number of factors known to independently increase a child’s risk of autism. These include having older parents; being a twin, triplet or other multiple; and birth complications including preterm delivery and low-birth weight.

A number of smaller studies had looked for associations between assisted reproduction and autism – both of which have increased dramatically in recent decades. However, their results have been mixed. Some showed an increased risk. Others did not.

Largest-ever study

To get a clearer picture, the new study looked at medical records related to nearly 6 million births in California between 1997 and 2007.

Overall the researchers found autism to be twice as common among children born through assisted reproduction than those who were not. However, this increased risk dropped considerably when the researchers accounted for advanced maternal age (over age 34) and medical complications during pregnancy or birth.

Even then, a small increased risk persisted for mothers 20 to 34 years of age. But the increased risk disappeared altogether when the researchers looked only at single births.  

Recommendations

"The results indicate that reducing multiple births during ART may be beneficial for decreasing the risk of autism,” says co-author Dmitry Kissin, a reproductive-health epidemiologist with the Centers of Disease Control and Prevention.

In the past, it was standard procedure to transfer multiple embryos to the womb after in vitro fertilization – to increase the chances of successful pregnancy. However, the resulting multiple births increased the likelihood of a broad range of pregnancy and birth complications. In recent years, reproductive medicine societies have recommended a general reduction in the number of embryo transfers, and this has reduced rates of multiple births.

Autism-related GI Issues Already Present in Infancy

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Large study finds GI distress unusually common among babies and toddlers who are later diagnosed with autism

Large study finds GI distress unusually common among babies and toddlers who are later diagnosed with autism

March 25, 2015

In the largest study of its kind, researchers have found that autism-related gut problems are already common in infancy – even before autism’s behavioral symptoms become obvious. The findings suggest that these GI issues – which include chronic constipation, diarrhea and food intolerances – are not simply a consequence of autism-related food aversions.

The report appears online today in JAMA Psychiatry.

“While earlier studies have already shown that GI issues are common in children with autism, this study is important for being the largest and for looking earlier in life,” comments developmental pediatrician Paul Wang, Autism Speaks’ head of medical research. Dr. Wang was not directly involved in the study.

“It's hard to blame picky eating, when GI symptoms start so early,” Dr. Wang adds. “This is why it's so important that we understand what’s causing these issues.”

Read about Autism Speaks Gut-Brain Research Initiative here.

The researchers, led by Columbia University epidemiologist Michaeline Bresnahan, analyzed information on more than 45,000 children in the Norwegian Mother and Child Cohort Study. This included 195 children diagnosed with autism by age 3 and 4,636 children with delayed language or motor development. As part of the study, mothers filled out detailed health questionnaires when their children were 6, 18 and 36 months.

The analysis showed that children who were diagnosed with autism by 36 months were more than twice as likely as typically developing children to have had chronic GI problems at 6 months and 18 months, as reported by their mothers.

The children with autism were likewise more likely to have GI symptoms than were children with delays in language or motor development. This suggests that the GI disturbances were not simply related to the developmental delays that mark autism.

In addition, the researchers found that when typically developing children had GI symptoms in infancy, the problems tended to resolve by age 3. By contrast, the problems were more likely to persist among the children with autism.

While higher levels of GI symptoms are associated with autism, Dr. Bresnahan cautions that "the vast majority of children with these symptoms won't go on to develop autism, nor do all people with autism have GI problems as children."

"Factors that disrupt signaling along the gut-brain axis while the brain is still under development may ultimately provide a key to understanding how the disorder occurs in the subset of children with autism and GI complaints," adds study co-author Ian Lipkin, also of Columbia University, in New York City.

To learn more, also see “Office Hours with Dr. Buie: Exploring Autism’s Gut-Brain Connection.”

 

 

Research on Girls Provides Insights into Severe Autism

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Autism Speaks Weatherstone fellow uses novel approach to uncover genes associated with severe autism

Autism Speaks Weatherstone fellow uses novel approach to uncover genes associated with severe autism

March 25, 2015

By focusing on girls severely affected by autism, researchers have identified a new gene strongly associated with autism and shed new light on the disorder’s root causes.

The study appears online ahead of the April 2 issue of the journal Nature.

Autism Speaks co-funded the research through a Weatherstone Predoctoral Fellowship for lead author Tychele Turner, at Johns Hopkins University.

Learn more about Autism Speaks Weatherstone Predoctoral Fellowships here.

Turner focused her genetic research on girls, she explains, because a growing body of research suggests that they are partially protected against autism. Girls and women make up just 20 percent of those affected by autism. But when they do develop the disorder, their symptoms tend to be more severe. Consequently, researchers have proposed that it takes a stronger genetic “hit” to tip the developing female brain into autism.

Following this line of thinking, Turner and her colleagues identified 13 families with more than one female affected by autism. In doing so, they associated autism with four genes not previously linked to the disorder.

They then delved deeply into one gene, CTNND2, to better understand its role in brain development. Their studies included analysis of the gene’s activity in the developing brains of zebra fish, mice and post-mortem human brain tissue.

They found that CTNND2 produced a protein (delta-catenin) found at high levels in the brain before birth. So it likely plays a key role in early brain development. Specifically, mutations in CTNND2 disrupted the connections called synapses that form between brain cells. This bolsters earlier evidence that problems with brain connectivity are the root cause of autism.

In addition, the research team found many interactions between CTNND2 and other genes involved in brain development. (See illustration below.)
 

"These findings are important on two levels,” comments Paul Wang, Autism Speaks head of medical research. “They help confirm that autism involves problems in connectivity between neurons during early brain development. The study also gives us a wealth of information about a particular gene that may offer new targets for medical treatment of severe autism.”

Turner and her colleagues are now working to find the functions of the other three genes that their analysis associated with severe autism.

Her co-authors included Kamal Sharma, Maria X. Sosa, Dallas R. Auer, Vasyl Pihur, Richard Huganir, and Aravinda Chakravarti of The Johns Hopkins University; Edwin C. Oh, Yangfan P. Liu, Nicholas Katsanis of Duke University; Ryan L. Collins, Harrison Brand and Michael E. Talkowski of Massachusetts General Hospital and Harvard Medical School; Stephan J. Sanders and Matthew W. State of the University of California, San Francisco, Daniel Moreno-De-Luca of Yale University; Christa Lese Martin of Geisinger Health System; Teri Plona, Kristen Pike, and Daniel R. Soppet of Leidos Biomedical Research; Michael W. Smith of the National Human Genome Research Institute; SauWai Cheung of Baylor College of Medicine; and Edwin Cook of the University of Illinois at Chicago.

Explore all the research and family-service projects that Autism Speaks is funding using this website’s grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.


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Autism Speaks Chief Science Officer Discusses MSSNG in Journal Nature

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In feature profile, CSO Rob Ring describes Autism Speaks’ collaboration with Google to create world’s largest genomic database on autism

March 26, 2015


This week in the journal Nature, Autism Speaks Chief Science Officer Rob Ring is profiled in a Q&A about MSSNG, Autism Speaks’ collaboration with Google to create the world’s largest genomic database on autism.

Read the full profile here.

The Microbiome in Autism Spectrum Disorder

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The journal Microbial Ecology in Health and Disease publishes a special issue on the role that gut bacteria may play in autism

The journal “Microbial Ecology in Health and Disease” publishes a special issue on the role that gut bacteria may play in autism

March 26, 2015


This month, the online journal Microbioal Ecology in Health and Diseasefeatures a special issue on The Microbiome in Autism Spectrum Disorder.

Follow the title links to read the articles in full:

An n=1 case report of a child with autism improving on antibiotics and a father’s quest to understand what it may mean, by John Rodakis

Gut bacteria in children with autism spectrum disorders: challenges and promise of studying how a complex community influences a complex disease, by Rosa Krajmalnik-Brown, Catherine Lozupone,Dae-Wook Kang and James B. Adams

Towards large-cohort comparative studies to define the factors influencing the gut microbial community structure of ASD patients, by Daniel McDonald, Mady Hornig, Catherine Lozupone, Justine Debelius, Jack A. Gilbert, Rob Knight

A model for the induction of autism in the ecosystem of the human body: the anatomy of a modern pandemic?, by Staci D. Bilbo, Cynthia D. Nevison, William Parker

The human gut microbiota with reference to autism spectrum disorder: considering the whole as more than a sum of its parts, by Michael C. Toh, Emma Allen-Vercoe

To learn more about research on the microbiome and autism, also see:

Autism Speaks Invests $2.3 Million into Research on Autism’s Gut-Brain Connection

and

Autism Speaks’ Office Hours with Gastroenterologist Tim Buie: Exploring Autism’s Gut-Brain Connection

 

World Autism Awareness Day at the UN: Science, Collaboration & Answers

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Autism Speaks co-hosts United Nations panel on the occasion of World Autism Awareness Day 2015

Autism Speaks co-hosts United Nations panel on the occasion of World Autism Awareness Day 2015

April 03, 2015

On World Autism Awareness Day, April 2, Autism Speaks co-hosted a United Nations panel –“Science, Collaboration and Answers for the Global Autism Community” – with the countries of Qatar and Bangladesh. Co-sponsors included the Permanent UN Missions of India, Nigeria and the Republic of Korea.

“It’s an honor to be here on World Autism Awareness Day – a day that every member country of the United Nations has sanctioned,” said Autism Speaks co-founder Suzanne Wright in opening remarks.

Added Madam Ban Soon-taek, spouse of UN Secretary General Ban Ki-moon: “We are proud to have walked closely with Autism Speaks for the past eight years. We are so impressed by the commitment of its founders Suzanne and Bob Wright to support individuals, families and communities affected by autism.”

Global Autism Awareness
In 2007, Qatar partnered with Autism Speaks to spearhead the passage of the UN’s World Autism Awareness Day Resolution. Passed unanimously by all UN member states, the resolution embodies a commitment to improve the quality of life of children and adults affected by autism.

Since then Autism Speaks has partnered with Bangladesh, other UN member states and the World Health Organization to develop, pass and implement additional autism and developmental disabilities resolutions and international commitments.

In this tradition, Autism Speaks has continued to co-host – with Qatar and Bangladesh – annual UN events on World Autism Awareness Day.

Advances in Science, Collaboration and Evidence-based Services

Rebecca Jarvis, chief business and economic correspondent for ABC News, moderated the afternoon scientific session.


 

Saima Wazed Hossain, chairperson of the National Advisory Committee on Autism of Bangladesh, gave an overview of how she and her colleagues – including parent advocates – worked with 13 government ministries to incorporate autism services into their existing public health, education and employment agendas. “We met with each minister individually, inviting a family member of someone with autism to go with us,” she explained. “The key was not asking them to find new money, but to make good choices that could provide support for those with autism.” The Bangladeshi model – now an exemplar for other resource-poor and middle-income nations – focuses on empowering and educating parents so they can make changes in their communities.

Amal Al Mannai, chief executive officer of the Qatar Foundation for Social Action, described its mission of providing guidance on developing an “inclusive and enabling society” where people with autism and other developmental disabilities can prosper.

 

 


 

 

Andy Shih, Autism Speaks senior vice president for scientific affairs, provided an overview of Autism Speaks work in more than 60 countries. Dr. Shih’s Global Autism Public Health (GAPH) team provides guidance to governments and parent-advocacy groups on developing national autism policies and culturally appropriate services around the world.

Joining Dr. Shih by video were GAPH team members sending World Autism Awareness Day progress reports from Albania, Morocco, Mexico and Peru. (See video above.)

“Our goal is to work in collaboration with local stakeholders to deliver practical, feasible and sustainable services,” Dr. Shih concluded. “No two countries have the same needs. So you can think of GAPH as precision medicine on a community level.”

Mohammed Badr Al Sada, executive director of Qatar’s Al Shaffalah Center, described the center’s mission to provide comprehensive services for children and teens with developmental disabilities and their families. The center is in the final phase of developing an autism school curriculum that can serve as a model for the region. The center has also developed innovative vocational programs with major employers including Qatar Airways, with the support of Qatar’s Ministry of Trade and Commerce.

Devora Kestel, of the Pan American Health Organization, highlighted the “treatment gap” for children with autism in low-resource world regions. “In underdeveloped and middle-income countries an almost unbelievable 80 percent of children with autism and other developmental disorders do not receive treatment,” she said. “Yet there are reasons for optimism given recent international commitments.” Dr. Kestel credited parents and caregivers of children with developmental disabilities with driving the progress.

She noted that tools for empowering parents were among the priorities identified by the first World Health Organization conference on autism in 2013. “We are taking that task seriously,” Dr. Kestel said, in welcoming the first “Capacity Building Workshop on Parent Skills Training for Developmental Disorders,” co-sponsored by Autism Speaks and WHO in Geneva next week (April 7-10).

Steve Scherer, of Toronto’s Centre for Applied Genomics, introduced Autism Speaks’ historic MSSNG (pronounced “missing”) autism genomics program, which he directs. The program's mission is to finding the missing answers to autism through genomics and open science. 

“MSSNG is the largest whole genome sequencing project in the world and the only one I know of that’s making data open access to researchers and families,” he said. “We join in celebrating World Autism Awareness Day today by beginning the transfer of the next 1,000 genomes into its database.”

By sequencing the genomes of 10,000 participants from families affected by autism, MSSNG will go beyond empowering research to connect families affected by similar genetic subtypes of autism.

“While we’ve begun this work in North America, we need participation from all the countries represented at this table,” Dr. Scherer said. “Each child with autism is like a snowflake, and we need to understand all the forms of autism.” Dr. Scherer also noted that international research is particularly important for understanding how genetics interacts with different environmental influences to produce autism.

Helen Tager-Flusberg, past president of the International Society for Autism Research (INSAR), described the organization’s commitment to bringing together autism scientists, professionals and families from around the world. “With representatives from more than 40 countries each year, our goal is to increase participation from scientists and other stakeholders from lower income countries.” To make this happen, INSAR offers discounted rates and is planning its first world-region conferences, beginning in Shanghai later this year.

Mesbah Ansari, a counselor with the UN Mission from Iran, spoke as a father and certified Pivotal Response Training (PRT) therapist who, with his wife, runs a national PRT training program for Iranian parents and therapists. He urged the UN to include autism on its universal health agenda with the twin goals of parent empowerment and the creation of a more “autism friendly world.”

“Too long we’ve concentrated our resources only on therapists,” he said. “Now we know that it’s important to train parents and guardians in the skills and techniques they need to treat their beloved children in the natural environment of their homes.”

Mr. Ansari welcomed the upcoming WHO-Autism Speaks workshop on parent skills training. “My wife and I use our training in all aspects of life with our son,” he added. “We’ve made it a method of life rather than a treatment.”

Usman Sarki, UN ambassador from Nigeria, emphasized advocacy and engagement on a global level. “The world needs to be able to trust the United Nations to provide the highest standards and to hold governments and leaders accountable to their commitments.”

 

 

View a video of the full event, including welcoming remarks, panel discussion and presentations below.

 


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‘Frankie & Me,’ Special Videocast for Autism Awareness Month

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Inspired by daughter, Autism Speaks-funded researcher Kevin Pelphrey to discuss advances in understanding autism in girls and women

Inspired by daughter, Autism Speaks-funded researcher Kevin Pelphrey to discuss advances in understanding autism in girls and women

April 06, 2015

The National Institute of Mental Health invites the public to view a special National Autism Awareness Month lecture by renowned Yale neuroscientist and Autism Speaks-funded researcher Kevin Pelphrey – father of a daughter on the autism spectrum – at 2 pm Eastern Time April 6, 2015.

View the lecture live or archived at http://videocast.nih.gov.

A developmental psychologist, Dr. Pelphrey directs the Yale Center for Translational Developmental Neuroscience. As a world-renowned autism researcher, he is motivated by his family to change the way we view autism and to develop new treatments informed by neuroscience and genetics.

Dr. Pelphrey will discuss his personal and professional journey with Frances, who said her first word at three and a half years old. When Frankie received her diagnosis at age four, Dr. Pelphrey shifted his research to autism. In particular, his work focuses on identifying the unique genetic and neural mechanisms that give rise to autism in girls and young women.

Read more about Dr. Pelphrey’s Autism Speaks-funded research here.

Explore all the research and family-service projects that Autism Speaks is funding using this website’s grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.

Social Training with Peers Helps Kids with Autism

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Study shows effectiveness of guided playgroups that pair 5 and 6 year olds who have autism with unaffected classmates

Study shows effectiveness of guided playgroups that pair 5 and 6 year olds who have autism with unaffected classmates

April 08, 2015


A newly published study documents the lasting benefits of a program that enlists typically developing kindergarteners and first graders to help teach social skills to classmates who have autism – all in the context of an after-school playgroup.

The results of the study, funded by the U.S. Department of Education, appear in theJournal of Autism and Developmental Disorders.

The researchers began by teaching their “Peer Networks Intervention” strategies to teachers, speech therapists and classroom assistants. The school staff then oversaw play groups that included a kindergartener with autism paired with two or three typically developing classmates.

To be enrolled in the study, the children with autism needed enough communication skills to follow simple directions and make simple requests with at least two- to three-word phrases.

The half-hour play groups met, on average, three times a week. After introducing a concept such as sharing, the teachers asked the “typical” classmates to help prompt the child with autism in a friendly manner. For example, during a game that involved sharing a toy, the classmate might prop up a small sign with the words “May I have it?” and “Here, you go.”

 

 

In a follow-up to their playgroup study, the Kansas University researchers created “Connecting Kids,” a series of child-friendly videos that help typically developing children understand and support friends and classmates who have autism. 

In this way, the children practiced social skills such as requesting, commenting and using niceties such as “please” and “thank you.” The play groups continued to meet for the first six months of kindergarten and again for the first six months of first grade.

In all, 56 children with autism completed the program. For comparison, the researchers also followed the social development of a comparison group of 39 children with autism who received only the school’s standard special education services for students with autism.

To find out if the children were using their new social skills outside of the play groups, the researchers observed their interactions with other classmates in other situations. They recorded such observations on at least four occasions, including the end of first grade.

“We found that the children who participated in the social network not only made significant progress in social communication during the intervention but also made many more initiations to their peers in general,” says senior researcher Debra Kamps, director of the University of Kansas Center for Autism Research and Training.

To make sure their measurements were objective, the researchers used standardized checklists of social communication behaviors. They also asked teachers to complete questionnaires about student behavior.

The results showed that children with autism who participated in the peer-network play groups initiated significantly more social interactions with classmates than did the children in the comparison group. Children in the program also showed more growth in language and appropriate conversation.

Finally, teacher ratings of the children’s social skills showed significantly greater improvements in social skills and classroom behavior for the children who participated in the program.

As further evidence of effectiveness, many of the teachers have continued to use the peer network strategies in their classrooms, Dr. Kamps says. "We know how to do this, and our research has shown us that it's not hard to teach people how to do it," she concludes.

"It’s exciting to see studies continuing to demonstrate the effectiveness of interventions that incorporate peers in treatment practices, comments Lucia Murillo, Autism Speaks assistant director for education research. "At the same time, as the authors described, the children with autism in this study had moderate to high language levels. So it’s important to recognize that the same results may not apply to all children on the autism spectrum.”

The positive results of the “Peer Network Intervention” support those of a related peer-training program pioneered by Autism Speaks-funded researcher Connie Kasari. To learn more about Dr. Kasari’s study – ranked as one of “Top Ten Research Advances of 2012” – see “Peer Training Outperforms Traditional Autism Interventions.

Infant Brain Activity Predicts Language Development in Autism

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Brain scans of sleeping babies and toddlers at risk of autism may guide earlier, personalized interventions and new medical treatments

Brain scans of sleeping babies and toddlers at risk of autism may guide earlier, personalized interventions and new medical treatments

April 09, 2015

Researchers have found they can go far in predicting which children with autism will eventually develop language and which will not – based on differences in brain activity when the children are infants and toddlers.

The findings represent a potential breakthrough in tailoring future early intervention programs to improve communication and language even before a diagnosis of autism is possible at 18 to 24 months.

Further research on these early brain differences might also guide the development of new medicines that target the underlying brain biology, the authors conclude.

The study appears today in the journal Neuron.

“Why some toddlers with autism spectrum disorder get better and develop good language and others don't has been a mystery that is of the utmost importance to solve,” says senior author Eric Courchesne. Dr. Courchesne co-directs the University of California-San Diego Autism Center, where the study was conducted.

For example, some children with autism and language delays catch up with their peers in terms of speech even if their intonation and conversation skills are unusual. Others fail to develop language or even lose early speech abilities.

"We designed our study to gain insight into the brain bases for these different developmental outcomes," Dr. Courchesne says.

“The findings open the possibility of identifying the need for language-focused therapies as early as infancy,” comments Autism Speaks Head of Medical Research Paul Wang, who was not involved in the study. Research has shown that earlier intervention improves long-term outcomes for many children with autism. However, autism’s broad spectrum has made it difficult to select the best therapies for any one child.

"By identifying how subsets of individuals with autism differ in early brain and behavioral development, we can hopefully move steps closer towards more personalizing treatments for individuals with autism,” says lead author Michael Lombardo, of the University of Cambridge and the University of Cyprus.

Monitoring response to speech as babies sleep
The investigators enrolled 103 infants and toddlers, ages 12 to 24 months. The children were being seen at the UCSD autism clinic for developmental delays or other red flags of possible autism.

Using functional magnetic resonance imaging (fMRI), the researchers took a snapshot of each young child’s brain activity in response to speech as the child slept. The children then returned for behavioral and language assessments every six months.

By age four, 60 of the participants had a diagnosis of autism. Of these, 36 eventually developed strong language, though some had early speech delays. The other 24 remained nonverbal or minimally verbal.

Looking back at the children’s early fMRI scans, the researchers found that most of the babies and toddlers who had strong brain activation in response to speech went on to develop good language skills.

By contrast, most of the children who developed autism with poor or absent language had shown no significant activation in brain areas associated with speech in their earlier brain scans.

Combined with behavioral tests, these differences in early brain activity predicted later language development with 80 percent accuracy. Either measure alone (fMRI or behavioral assessments) predicted language development with 68 percent accuracy.

“MRI is one of the most commonly used research methods for studying the brain in autism,” comments Dr. Wang. “Now, by helping to identify which children are at greatest risk for poor language, this test may help guide parents, therapists and educators on how best to tailor a child’s intervention program.”


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Autism Study Fails to Show Benefit of Omega-3 Fatty Acids

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Six-month trial at Autism Speaks ATN in Toronto produced no improvements in symptoms or language among young children with autism

Six-month trial at Autism Speaks ATN in Toronto produced no improvements in symptoms or language among young children with autism

April 10, 2015


In a small but rigorous six-month study, omega-3 fatty acid supplements produced no benefits over dummy pills in the autism symptoms and language development of toddlers and preschoolers with autism.

The study, by researchers at Toronto’s Bloorview Kids Rehabilitation Hospital, appears online in the journal of Molecular Autism. The hospital is part of the Autism Speaks Autism Treatment Network (ATN).

Eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are important for brain development and function.

“During the last trimester of fetal life and the first two years of childhood, the brain undergoes a period of rapid growth,” the researchers write by way of background. “DHA is required for the development of the sensory, perceptual, cognitive and motor neural systems during the brain growth spurt.” EPA, in turn, is found in breast milk and plays a significant role in brain and immune function.

Their clinical trial followed up on questions raised by a series of earlier studies. Some of these studies found that children with autism, as a group, tend to have lower levels of omega-3s than do typically developing children. But other studies failed to find such differences.

The new study enrolled 38 children with autism (28 boys and 10 girls), ages 2 to 5. Half received a liquid supplement containing 1.5 grams each of EPA and DHA. This is the maximum dose of omega-3 fatty acids recommended by Health Canada (the equivalent of the U.S. Food and Drug Administration). Because omega-3 supplement can cause gastrointestinal upset, the children started with a dose of 0.75 grams, and then increased to the full dose after two weeks if no problems arose.

For comparison, the other 19 children received flavored olive oil prepared to look and taste the same as the omega-3 liquid supplement.

After six months, the researchers performed standardized evaluations of autism symptoms, problem behaviors and language development. The results showed no benefits over a placebo, or dummy pill. In fact, those in the treatment group experienced a slight worsening of challenging behaviors such as disruptiveness, aggression and hyperactivity.

“Despite the disappointing results, this new study is commendable,” comments Autism Speaks Head of Medical Research Paul Wang, who was not involved in the study. “The investigators enrolled younger children than in any other study of omega-3 supplementation and provided treatment for a longer period than in any other study. Both of these features were designed to maximize any effect that the supplement might have.”

The study also went further than previous trials by drawing blood to ensure that the children were actually swallowing and absorbing the omega-3 fatty acids. The findings support those of studies giving omega-3 supplements to older children with autism. These likewise found no benefit.

“The biggest limitation of the study was its small size,” Dr. Wang adds. “However, one shouldn’t underestimate the difficulty of running even a relatively small, high-quality clinical trial such as this one. This is a huge effort not only for the researchers but for the families who make sure their children receive the treatment each day and have to bring their children into the clinic for monthly evaluations and blood draws. We are tremendously appreciative of their contribution to this important research.”

Learn more about enrolling in autism studies on our “Participate in Research” page. Also see Autism Speaks Participant’s Guide to Drug Research.

To learn more about research on autism and nutritional supplements, also see:

* Can Essential Fatty Acids Prevent or Treat Autism?

* Prenatal Vitamins Before and After Conception May Decrease Autism Risk

* More about Prenatal Folic Acid and Autism

* Swedish Study Suggests Low Vitamin D at Birth May Increase Autism Risk

* Taking Iron During Pregnancy & Breastfeeding May Lower Autism Risk

* Broccoli Sprouts for Autism? What You Need to Know

* Autism, Probiotics and Dietary Fiber: Q&A with GI Specialist Tim Buie

* Researchers Caution against Commonly Used Autism Supplement

Q&A with Autism Pioneer Simon Baron-Cohen

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The world-renowned researcher discusses his ground-breaking theories and development of autism support services and educational products

The world-renowned researcher discusses his ground-breaking theories and development of autism support services and educational products

April 13, 2015

World-renowned developmental psychologist Simon Baron-Cohen directs the Autism Research Centre at the University of Cambridge, where he also teaches and does research. In addition to more than 400 scientific papers, he has authored many books including Mindblindness and Teaching Children with Autism to Mindread. Most recently, he produced the DVDs Mind Reading and The Transporters to help children with autism learn emotion recognition.

Dr. Baron-Cohen sat down to answer our questions about his career, famous ideas about autism and current projects.

 

Autism Speaks:What drew you to work with children affected by autism three decades ago?

Dr. Baron-Cohen: Little was known about autism when I worked as a teacher in a small psychiatric unit for kids with autism in north London from 1981 to 1982. Called Family Tree, it was influenced by the psychoanalytic theories of the day [that autism was caused by emotionally detached parenting]. I remember Frances Tustin came to visit. But it was also an open-minded, experimental school. For example, the Nobel Laureate and ethologist Niko Tinbergen also visited.

The staff-pupil ratio was one-to-one, with just six kids and six teachers. Our work with the kids was very interactive. In addition to being a teacher, I also drove the mini-bus and often took the kids out to the park. We had video cameras in every room. At staff meetings, we analyzed the videos and discussed why an interaction with a child had gone well or ended unexpectedly with a tantrum or the child running out of the room. The head teacher, June Felton, was pioneering new educational approaches. We were in unchartered territory.

I found the puzzle of autism intriguing, particularly the dissociation between the children’s frequently precocious non-social intelligence, alongside delays in social understanding.

Inspired by that year of teaching, I decided to pursue doctoral studies with Uta Frith, at the Medical Research Council’s Developmental Psychology Unit, attached to University College London. Dr. Frith had studied for her own PhD with Beate (Ati) Hermelin, a Berlin psychologist who fled from the Nazis in 1939.

Hermelin’s 1970 book Psychological Experiments with Autistic Children exemplified how to analyze human cognition and perception through elegant experiments. This approach is in danger of vanishing from contemporary autism research. Hermelin’s own doctoral supervisor was Neil O’Connor, who had worked with the Soviet neuropsychologist Alexander Luria, who himself had worked with another Soviet social-developmental psychologist Lev Vygotsky, who came from my grandparents’ home of Belarus.

As Uta Frith’s doctoral student, I felt privileged to be part of an academic lineage stretching back to early 20th century Russian psychology.

Autism Speaks:You’re famous for your “theory of mind” research. What are its practical applications?

Dr. Baron-Cohen: During my year as a teacher, I became fascinated by the possibility that children with autism didn’t think about what other people were thinking. For example, a child would come right up close to someone else’s face, unaware that the other person might consider this intrusion odd or unsettling.

One boy, age 14, grabbed my glasses and threw them across the room because he didn’t like gold-framed glasses. My startled look of surprise seemed of no concern to him. A 13-year-old girl wandered into her parents’ dinner party with no clothes on, apparently unaware of what the guests were thinking. This absence of embarrassment in teenagers with autism gave me the clue that their “theory of mind,” or awareness of other people’s thoughts, was not developing typically.

Another child would ask me the same set of questions every day (“Is your birthday on a Tuesday this year?”) despite knowing the answer. She wasn’t using language to impart or get new information, and she wasn’t concerned about what I thought about her question. She was simply repeating statements to confirm the factual patterns that interested her.

My PhD proposal was to test whether this aspect of social cognition – understanding what others were thinking – might be delayed or impaired in autism. This led Uta Frith, my co-supervisor Alan Leslie and me to develop the “Sally Anne Test” of false belief. (See image at right.) In this now widely replicated test, the participant is told a story in which Sally watches Anne put a marble in a basket. Sally leaves, and Anne moves the marble to a box. Sally returns to look for the marble. The participant is then asked where Sally will look for her marble.

The results of this experiment confirmed our theory of an autism-related inability to infer other people’s mental states: Most children with autism predicted that Sally would look for the marble in its new location. That is, they failed to appreciate that Sally didn’t know that Anne had secretly moved the marble. By contrast, most typical 4-year-olds predicted that Sally would look for the marble in its old location – evidence that they appreciated what Sally knew and didn’t know.

You asked about the clinical value of this basic cognitive science. We went on to publish Teaching Children with Autism to Mindread, showing that you can break “theory of mind” down into steps that children with autism can learn. We also produced a DVD called Mindreading, a fun project that involved putting every human emotion – there are 412 of them! – into an electronic encyclopedia and computer game that children and adults with autism can use to learn to recognize what another person might be feeling.

The idea of learning about emotions via a computer may seem counterintuitive to how children typically learn social skills. But computer-based learning may actually be preferable for many children and adults on the autism spectrum. We found that, with practice, they can improve their emotion-recognition skills. The DVD turned out to be an excellent example of creating something practical from a theory.

We created another useful application – the Checklist for Autism in Toddlers (CHAT) based on the precursors of theory of mind – pretend play and joint attention. We see these skills emerge by 14 months of age in typically developing infants. The CHAT screens for autism at 18 months based on the absence of these milestones. In 1992, we tested this tool in the first “baby sibs” study. In 1996, we confirmed the results in a larger population of infants. In doing so, we showed that infants could be diagnosed with autism as young as 18 months of age. At that time this was a big step forward for earlier diagnosis.

We have just revised the CHAT to make it more relevant to the idea of the spectrum, or degrees of autism. The new instrument is called the Q-CHAT (Quantitative Checklist for Autism in Toddlers), and we’ll be publishing the results later this year.

Autism Speaks:You’re also known for your “extreme male brain” theory of autism. Please tell us about its development and your related theory of typical sex differences.

Dr. Baron-Cohen: The extreme-male brain theory of autism comes out of the “empathizing-systemizing theory” of typical sex differences. Prior to this, the field of sex differences research had focused on verbal versus spatial abilities as the only important sex differences. The empathizing-systemizing theory argued that, as a group, girls typically develop empathy at an earlier age than boys do. Empathy includes the ability to recognize other people’s thoughts and feelings and the drive to respond with appropriate emotions. Conversely, research suggests that boys, as a group, typically have a stronger interest in rules and patterns, analyzing and creating rule-based systems.

The extreme-male brain theory simply proposes that people with autism show an extreme of the typical male profile: They have intact – or even above average – systemizing drive, alongside below-average empathy.

It’s important to note that people with autism don’t struggle with all aspects of empathy. Most are caring people. For example, they become upset when they hear or see others suffering. We call this “affective empathy.”

By contrast, people with autism tend to struggle to read, or interpret, other people’s thoughts, intentions and feelings. We call this “cognitive empathy,” or theory of mind.

In 2014 we published a very large study using two scales – the Empathy Quotient and the Systemizing Quotient – with more than 800 adults with autism. We also included a control group of nearly 4,000 typical adults. The results precisely fitted what we would have predicted from our extreme-male brain theory.

This didn’t stop at least one journalist calling the theory “controversial”! I hope one day it won’t be contentious to discuss psychological sex differences. But I imagine it still triggers this reaction because of the valid concern that research into sex differences could be used to stereotype people. If you keep in mind that the theory is about group averages, not about individuals, this reduces the risk of misunderstanding.

The extreme male brain theory is occasionally been misunderstood in another way. Some wrongly interpret it as stating that people with autism are hyper-male in all respects, including in aggression. This misinterpretation makes clear that someone hasn’t actually read the theory. It specifically relates only to empathy and systemizing, not to all sex-linked characteristics.  

On the positive side, the extreme male brain theory has led to some novel investigations into the biological mechanisms that create typical sex differences. These include varying levels of prenatal sex hormones and the role these may play in autism. (Editor’s note: More on Dr. Baron-Cohen’s prenatal hormone research below.)

Autism Speaks:Your playful animated series “The Transporters” was nominated for a British Academy of Film (BAFTA) award in the UK, and clinical trials show it leads to improvements in emotion recognition and understanding. How can readers find out more?

The Transporters DVD is another practical product developed from our theories and research findings. Each animated episode features vehicles including trains, trams, tractors and cable cars with expressive human faces. We know that many kids on the autism spectrum love watching wheels and trains going round and round. They’re drawn to the repetition and predictable systems.

In The Transporters, we grafted the moving images of actors’ faces onto the front of each vehicle. This is important because we know that young children with autism look less at faces and make less eye contact than typically developing children do. So we’re harnessing their strong interest in systems to help them with their area of difficulty in cognitive empathy. With The Transporters, we provide enjoyable exposure to facial expressions, to teach which emotions go with different situations.

In short, The Transporters provides opportunities for social learning in an autism-friendly format. One-hundred percent of the profits from the DVD sales go to autism research through the Autism Research Trust, a charity that’s pleased to provide a special discount to the Autism Speaks community.

Watch a demo episode at www.thetransporters.com.

To get your 30 percent discount (valid through the Dec. 30, 2015), enter the discount code LIUB at checkout.

Autism Speaks:You recently published a study showing elevated rates of suicidal thoughts among those affected by Asperger syndrome. And like Autism Speaks, you’ve long championed the need for services and support for adults on the spectrum. What do you see as the most urgent needs?

Dr. Baron-Cohen: In 1999, we opened one of the first clinics for the diagnosis and support of adults with Asperger syndrome. We knew there was a ‘lost generation’ of people born before 1994, when Asperger syndrome was first recognized in the English-speaking medical world.

Editor’s note: In the United States, the once-separate diagnosis of Asperger syndrome was folded into the umbrella diagnosis of “autism spectrum disorder” with the publication of the DSM-5 diagnostic manual.

As you mention, we reported in the Lancet Psychiatry last year that more than half (66 percent) of 374 patients with Asperger syndrome, seen at our clinic, had suicidal thoughts or feelings. More than a third (35 percent) had made plans to commit suicide or had actually attempted to do so. This was an urgent a wake-up call. We need to develop support services for these adults. Their suicidality probably reflects feelings of being marginalized, isolated, lonely and under-valued.

We know, for example, that many adults with autism and Asperger syndrome are unemployed or under-employed. We know the importance of employment in promoting mental health, self-esteem, self-confidence and a sense of inclusion. With small reasonable adjustments to the work place, many people with autism can be an asset at work.

We are pleased to be working with the multinational company SAP to create internships for people with autism who are gifted in computer programming. The aim is that these internships will lead to permanent jobs. For SAP, it’s not just about social responsibility. The company’s leadership understands that people with Asperger syndrome can do the job as well – and sometimes even better – than a neurotypical person.

 

Video courtesy the University of Cambridge.

 

For North American autism employment resources, see
Autism Speaks Joins National Funders to Expand Inclusion in Employment.”

Autism Speaks: You’re now studying hormone levels – particularly levels of the steroid testosterone – in the womb. How is this advancing our understanding of the early development of autism?

Dr. Baron-Cohen: We’ve known since the 1940s that, in laboratory animals, high levels of the hormone testosterone masculinize the brain and body. Further, we know that this effect occurs only during a critical period of prenatal development. In humans, it’s between 9 and 24 weeks of gestation. Amniocentesis, a clinical test used to detect fetal chromosomal abnormalities, is typically done during this period of a woman’s pregnancy. This allows us to study hormone levels in the amniotic fluid without the mother having to go through additional testing. We began our fetal testosterone testing in the late 1990s. Since then, we’ve been following these children and their behavioral development.

Consistent with the fetal sex steroid theory, we found that higher levels of fetal testosterone correlated with a child making less eye contact at the child’s first birthday. It also correlated with slower language development at the child’s second birthday. Still later in development, higher fetal testosterone correlated with poorer social skills and lower cognitive empathy, or theory of mind.

Interestingly, our analysis also associated higher fetal testosterone with stronger interests in systems, better attention to detail, narrower interests and a higher number of autistic traits.

So we found associations between high levels of one hormone – testosterone – during a critical window of fetal brain development with both social and non-social aspects of cognition and behavior.

As a group, male fetuses produce twice as much testosterone as females do. Taken together with our findings, this may explain why autism is more common in males.

Our findings are important because fetal testosterone can change brain structure in a permanent way. For example, fetal testosterone slows down the pruning of connections – also known as apoptosis – between nerve brain cells. We know, from studies of donated post-mortem brain tissue, that autism often involves an excess of neuronal connections within distinct areas of the brain. This is called “local over-connectivity.”

Elevated fetal testosterone levels also change gene expression. That is, it has epigenetic effects. So this research may be relevant to helping us understand the complex gene-environment interactions that can produce autism. (Learn more about autism and epigenetics here.)

However, our Cambridge study involved just 600 typically developing children. This was too small a sample to test if autism involves elevated levels of fetal testosterone. To test this important question, we went on to collaborate with the Danish Biobank, which has more than 100,000 samples of stored amniotic fluid from pregnancies since the 1980s. From these, we identified 128 boys who had gone on to develop autism or Asperger syndrome. As we reported in 2014, we found that children on the autism spectrum indeed had higher levels of fetal testosterone.

Next, we want to test if the same elevation is found in girls who go on to develop autism. We already have a clue in that there are elevated rates of polycystic ovary syndrome in women with autism and their mothers. This syndrome is caused by elevated fetal testosterone.

Autism Speaks:So you’ve come a long way from your early psychological studies into theory of mind, to these new molecular studies into prenatal testosterone?

Dr. Baron-Cohen: It’s true. But to understand autism in its entirety, one needs to cross disciplines – to move from perception and cognition to neuroscience and from there into molecular biology, including hormones and genetics. To integrate findings in this way means working in multi-disciplinary teams, and I feel privileged to have such talented collaborators. I’ve also enjoyed complementing basic research with applied, clinical trials that can evaluate what actually helps.

I’m grateful to the Autism Speaks community for supporting autism research at all of these levels and across the world. But there’s no room for complacency. There’s a lot more work to do.

Can Early Control of Gestational Diabetes Reduce Autism Risk?

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New study advances understanding of when and how diabetes in pregnancy contributes to autism; implications for prenatal care

New study advances understanding of when and how diabetes in pregnancy contributes to autism; implications for prenatal care

April 14, 2015

Diabetes that develops early in pregnancy increases the risk of autism by 40 percent, according to a large new study of more than 320,000 children and their mothers.

The increased risk may stem from the effects of uncontrolled high blood sugar during a critical window of early brain development, the investigators suggest. Their report appears today in the Journal of the American Medical Association (JAMA).

“While the increased risk of autism in this study is modest, the findings add to the growing body of research showing that pregnancy is particularly sensitive period for children’s brain development,” comments epidemiologist Michael Rosanoff, Autism Speaks director for public health research.

To provide perspective, the increased autism risk seen with early gestational diabetes translated into roughly seven additional cases per 1,000 pregnancies.

“Rather than spark anxiety, the findings should underscore the importance of comprehensive prenatal care and monitoring for the health of a woman and her baby,” adds developmental pediatrician Paul Wang, Autism Speaks head of medical research.

Autism Speaks was not involved in the study, which was led by investigators at Kaiser Permanente and the University of California-Los Angeles Keck School of Medicine.

What’s the difference between increasing risk versus causing autism? Read this insightful answer by pediatric neurologist and autism expert Martha Herbert.

What we know about gestational diabetes
Gestational diabetes develops in 6 to 7 percent of pregnancies, usually during the last trimester. It often produces no symptoms. So it can easily go unnoticed unless a woman is getting regular prenatal checkups with blood tests.

The new study found no increased autism risk when gestational diabetes develops after 26 weeks of pregnancy. “It was only the less-common situation of gestational diabetes arising early in pregnancy that showed an increased risk,” Dr. Wang notes.

Autism prevalence was also higher among the children of mothers who entered pregnancy with pre-existing type 2 diabetes. However, the investigators showed that, in this scenario, the increased risk was due to other conditions associated with a mother’s type 2 diabetes. These included being an older mom or having other health conditions such as heart, lung, kidney or liver disease.

By contrast, the increased autism risk seen with early gestational diabetes remained significant even after adjusting for the mother’s age and other health conditions.

The authors propose that the lack of added risk with pre-existing diabetes may be because most obstetricians take care to control known diabetes during pregnancy. All the women in the study were enrolled in a managed healthcare plan (Kaiser Permanente) that provides comprehensive diabetes and prenatal care.

Once detected, gestational diabetes can be effectively managed. Sometimes diet and exercise are enough, according to American College of Obstetricians and Gynecologists. Sometimes medication is needed as well. (More from ACOG here.)

Broader importance of managing diabetes during pregnancy
A large body of research has shown that diabetes and related metabolic disorders during pregnancy can have long-lasting health effects on children. Studies looking specifically at maternal diabetes and autism have produced mixed results. This may be because earlier studies did not separate out the risk associated with early gestational diabetes (before 26 weeks).

“Studies such as this show us that we need big datasets and that we need to look at them carefully to understand what causes or protects against autism,” Dr. Wang concludes. “This is why Autism Speaks is working on MSSNG– the biggest data project ever for advancing understanding and treatment of autism.”


For a video segement on the study from JAMA, click here.

Dr. Wang also provided comment in a related story in USAToday here.


What we know about autism is not enough; MSSNG is the search for the answers.
Learn more about how Autism Speaks and Google are changing the future of autism with open science. 


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Study Links Autism to Epigenetic Changes in Dads’ Sperm

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Findings suggest that fathers’ exposure to environmental hazards may alter gene activity in ways that predispose children to autism

Findings suggest that fathers’ exposure to environmental hazards may alter gene activity in ways that predispose children to autism

April 15, 2015

Researchers have found tell-tale “epigenetic” changes in the DNA from the sperm of men whose children have early signs of autism. These changes – which are likely passed on to offspring –  may reflect, in part, the men’s exposure to environmental hazards.

The study, co-funded by Autism Speaks and the National Institute of Environmental Health Sciences, appears online today in the International Journal of Epidemiology.

Epigenetics is the study of mechanisms that control gene activity without changing the underlying DNA that makes up our genes. In essence, epigenetic molecules control when and where genes turn on and off to coordinate the body’s development and function. Precise epigenetic control is particularly crucial during brain development.

In the new study, investigators looked for epigenetic contributors to autism, a subject of keen interest in recent years.

"If epigenetic changes are being passed from fathers to their children, we should be able to detect them in sperm," says coauthor Daniele Fallin. Dr. Fallin directs the Wendy Klag Center for Autism and Developmental Disabilities, at the Johns Hopkins Bloomberg School of Public Health. She and her team receive Autism Speaks funding to investigate early environmental influences on autism risk. This includes research that may help identify preventive measures and targets for future treatments.

Read more about Dr. Fallin’s Autism Speaks research projects here, here and here.

“These findings offer tantalizing clues about the way risk associated with environmental factors can be transmitted from father to child,” comments Andy Shih, Autism Speaks’ senior vice president for scientific affairs. “It adds to our growing understanding and appreciation of the complexity of gene-environment interaction in autism etiology. It also suggests possible ways to identify relevant environmental risk factors in future studies.” Dr. Shih was not directly involved in the research.

Epigenetics and environmental risk factors for autism

A growing body of research has suggested that environmental influences – including infection and exposure to toxic chemicals – can produce epigenetic changes in the cells that make sperm and eggs. Sperm-making cells may be particularly vulnerable to such environmental exposures. Many experts believe that this explains why autism rates are significantly higher among the children of older dads. Their germ cells have been exposed to more environmental “hits” over the course of a lifetime.

To learn more, also see “Father’s Age Linked to Increased Genetic Mutations in Children.”

In their new study, the Johns Hopkins investigators analyzed the epigenetic markers on DNA in the sperm from 44 dads. The men were part of the ongoing Early Autism Risk Longitudinal Investigation (EARLI). EARLI enrolls families that have a child with autism and follows them through subsequent pregnancies and the birth and development of younger siblings.

Early in their wives’ pregnancies, the men provided sperm samples for DNA and epigenetic analysis. One year after birth, the younger siblings were assessed for early signs of autism.

The researchers then looked at the likelihood that a child’s autism symptoms corresponded to an epigenetic change at a particular site in a father’s sperm DNA. They found 193 such sites. At each of these sites, epigenetic changes were significantly associated with children’s autism symptoms.

When the researchers looked at which genes were near the “high risk” sites, they found that many are in or near genes crucial to brain development.

In a related analysis, the investigators found several of the tell-tale epigenetic changes in the post-mortem brain tissue of individuals with autism – providing further evidence that these changes may predispose to autism.


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. 

The team plans to confirm its results in a study of more families and to look at the occupations and environmental exposures of the dads involved.

Further research on the genes implicated in the study may also identify pathways of brain development that might be protected or supported by future medicines.

To learn more about Autism Speaks research into the genetics and epigenetics of autism, also see
MSSNG: Changing the future of autism with open science.

Explore all the research and family-service projects that Autism Speaks is funding using this website’s grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.


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Study Counters Idea that Violent Games Spark Aggression in Those with Autism

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No change in aggression seen after adults with autism play violent video game; response similar to that of adults without autism

No change in aggression seen after adults with autism play violent video game; response similar to that of adults without autism

April 15, 2015

In a new study, researchers tested the idea that adults affected by autism might be more vulnerable than usual to the aggression-inducing effects of violent video games.

“If violent video games caused adults with autism spectrum disorder to behave aggressively, we should have seen some evidence of this in our study,” says lead investigator Christopher Engelhardt, of the Missouri University Thompson Center for Autism and Neurodevelopmental Disorders. “But we did not.”

The Thompson Center is one of 14 sites in the Autism Speaks Autism Treatment Network (ATN).

The full report, accepted for publication in the journal Psychological Science, is available online.

The researchers enrolled 120 young adults, ages 17 to 25, in their study. Sixty had autism and sixty did not, with nine women in each group. Each participant played one of two 15-minute video games – a violent or nonviolent version of a shooting game. Next came a fictional competition designed to measure aggression.

In the task, the participant was told he or she was competing in tests of reaction time against an unseen person on another computer. When the participant won, he or she could blast the opponent with a loud noise, dialing up the volume and length on a scale of 1 to 10.

All the participants “lost” the first round and received a blast at level 9 volume and level 8 duration. The computer program then set them up to lose four out of eight additional tests.

The researchers analyzed the length and volume of blasts each participant delivered as a measure of aggression.

Bottom line: The study found no significant differences in the aggression shown by gamers who had autism and those who did not. Nor did they see a significant difference in aggression following the violent versus nonviolent version of the video game.

“There are some caveats to our findings,” Engelhardt admits. “We exposed participants to violent or nonviolent games for only 15 minutes before measuring their willingness to behave aggressively. This study, therefore, cannot speak to the potential long-term effects of violent-video-game exposure.”

* 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.

Many Doctors Have Delayed Autism Diagnosis by Ignoring Parent Concerns

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New analysis of 2011 survey shows that many healthcare providers were dismissing parents’ early concerns about autism

New analysis of 2011 survey shows that many healthcare providers were dismissing parents’ early concerns about autism

April 15, 2015

A new analysis of a 2011 national survey finds that many parents of children with autism had their early concerns dismissed by their healthcare providers. In fact, they were more likely to have had their first concerns dismissed than were parents of children with other developmental delays, including intellectual disability.

This appears to have resulted in significant delays in autism diagnosis and treatment. The parents reported first raising concerns about possible autism symptoms when their children were around 2 years of age, on average. By contrast, their children’s average age of autism diagnosis was close to 5 years of age.

The findings appear online in the Journal of Pediatrics.

At the time of the 2011 Survey of Pathways to Diagnosis and Treatment, all the children were between the ages of 6 and 17. This included 1,420 children diagnosed with autism and 2,098 children with intellectual disability or another type of developmental delay.

“This research shows that a decade ago parents' concerns about possible autism were being dismissed without action far too often,” comments developmental pediatrician Paul Wang, Autism Speaks’ head of medical research. “Since then we have been actively engaged with the medical community to ensure this no longer happens.”

Since its founding in 2005, Autism Speaks has taken the lead in raising autism awareness both in North America and around the world. In 2013, the organization launched its “Early Access to Care” initiative to lower the age of autism diagnosis – with a special emphasis on underserved communities.

In addition, Autism Speaks Autism Treatment Network has played an active role in developing medical treatment guidelines and providing autism-education for pediatricians and other healthcare providers.

On the positive side, Dr. Wang notes, the new analysis shows that when physicians did act on parents' concerns, diagnoses were getting made earlier.

“We know that the earlier intervention gets started, the better the long- term outcome,” Dr. Wang emphasizes. Autism can be diagnosed as early as 18 months, and associated developmental delays can be identified and addressed even earlier.

“We continue to strongly support screening of all children for possible developmental problems including autism at their 12- and 18-month well-child checkups,” Dr. Wang adds. “We likewise urge healthcare providers to be proactive in helping families access early intervention therapies, special educational services and specialist care, as needed.”

Download Autism Speaks’ First Concern to Action Tool Kit here.

Learn about Early Access to Care resources for parents and caregivers here.

Learn about Early Access to Care resources for professionals here.

Learn about becoming an Early Access to Care community partner here.

Q&A with Autism Speaks’ New Head of Genomic Discovery

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Geneticist Mathew Pletcher is a pioneering researcher and the parent of a child affected by a disabling condition in need of a cure

Geneticist Mathew Pletcher is a pioneering researcher and the parent of a child affected by a disabling condition in need of a cure

April 16, 2015

Autism Speaks is pleased to welcome geneticist Mathew Pletcher to its science team as vice president and head of genomic discovery. Dr. Pletcher comes to Autism Speaks from Pfizer, where he worked as director of medical genetics in the company’s Rare Diseases Research Unit.

In this role, Dr. Pletcher will lead MSSNG (pronounced “missing”), Autism Speaks historic collaboration with Google to create the world’s largest open-access genomic database.


MSSNG: “What we know about autism is not enough; MSSNG is the search for the answers.”

“Throughout his career, Mat has demonstrated a passion for driving the science of the possible,” says Autism Speaks Chief Science Officer Rob Ring. “He has real-world experience in both industry and the non-profit sectors working to turn scientific breakthroughs into treatments for families in need.”

This week, Dr. Pletcher sat down to talk about his path to Autism Speaks and his goals for the year and years ahead.

Dr. Pletcher, you have a deeply personal connection to the world of parent-founded research and advocacy organizations. Please tell us about the foundation that you and your wife helped found.

Dr. Pletcher: Our daughter Finley was three when she was diagnosed with Leber’s congenital amaurosis, or LCA. We quickly learned that there are at least 20 different genetic causes of this progressive disease. Finley’s form is due to a mutation in the gene RDH12. Based on what is known about this type of LCA, Finley will likely lose her sight completely by her teenage years unless a treatment is developed.

 

The hopeful news is that gene therapy has produced tremendous results as a treatment for another genetic form this disease – one caused by a mutation in the gene RPE65. It’s been life-changing for children and even adults with RPE65 LCA. There is a striking video about an 8 year old boy, Corey Haas, who received the treatment. He had been functionally blind. After the treatment he’s riding a bike, playing a baseball and doing other things not possible beforehand.

 

Seeing that path and knowing that something was possible motivated my wife and I. Together with three other families of kids with same diagnosis, we formed our own foundation, the RDH12 Fund for Sight. We have raised over a million dollars for research that’s advancing a gene-therapy cure.

We’re getting tantalizing close to clinical trials – maybe one to three years away. This feels remarkable because at the time Finley received her diagnosis, we were facing a condition that invariably led to blindness. Now that destiny of blindness doesn’t look as certain for our daughter and other children. Now there’s reasonable belief that some level of vision is possible for them in the long term.

What I’ve come to see, as both a parent advocate and a researcher, is the tremendous power of parents motivated to advance research and treatment opportunities, to reshape the world that their children will be facing.

Beyond supporting research, there are also the more practical, personal aspects of this journey. Like families affected by autism, we find ourselves working with our child’s schools, with teachers and principals to help them understand what it means to support a child with special needs in the classroom. The school district we’re in had no experience working with students with vision loss. It has been a long process helping them understand what our daughter needs to function at her best and succeed.

Although I can’t know what it’s like to raise a child with autism, I would like to think that the road my family has traveled shares some of the same emotional challenges that families affected by autism experience every day. At the heart of it, we all want to look ourselves in the mirror and feel that we did everything we could to support our children and improve their futures.

Autism Speaks: The Autism Speaks community is passionate about supporting research that can deliver treatments. But families can also get frustrated by the pace of research. As a researcher who is also a parent wanting breakthroughs, what perspective can you share?

It’s that real push-pull between the desire of parents to deliver a treatment for their children and the desire of researchers to make sure they have a safe and effective treatment before ever giving it to someone’s child.  

As a parent, that clinical trial is never close enough. With a degenerative disorder like LCA, we’re in a race against the clock. Our daughter has some usable vision left. But each day without a treatment means a little less vision that we’re likely to save. So, do we ever get frustrated with our research partners over the pace of the work? You better believe it. 

At the same time, I’m acutely aware of the nature of scientific research. You think you have things well in hand and then you get an unexpected result. And if we are talking about a medicine that is going into a child, we can’t ignore the potential risks. We have to take the extra time to understand the unexpected result before we can push ahead again.

We’ve celebrated the progress. But time is always on our minds no matter how much we want to be patient and supportive of our research partners. It’s tough.

Autism Speaks: Your work in rare disease drug discovery must have been very rewarding. How did it lead you to Autism Speaks?

Dr. Pletcher: One of my greatest pleasures in rare disease drug development was the interaction and connection I made with the parents of affected children. It was another reminder for me of the power of the motivated parent.

The entire field of rare disease research is driven by advocacy groups founded by parents. It is largely because of these patient-focused groups that rare disease drug discovery has flourished in the last couple years. They are responsible for ground-breaking legislation that encouraged large pharmaceutical companies to invest more in treating rare diseases. In addition, direct investments by disease advocacy groups are ushering in new life-saving therapies.

All of us in our drug discovery unit were motivated by our patient families – every single day. They gave our work meaning. Once you form these personal connections, you feel like you’re all in it together. We knew the names of the children we were working for. I bring these relationships with me, as I continue to stay in contact with the families, getting updates about their journeys. It’s this desire to have a direct connection between the science I do and the people it serves that motivated me to join Autism Speaks.

Autism Speaks: In taking the reins of Autism Speaks’ genomic program, you will be guiding the historic creation of MSSNG, the world’s largest genomic database for open research. What are your goals for the program – this year and beyond?

Beyond the opportunity to work closely with a dedicated and motivated family-led advocacy group, what drew me to Autism Speaks is the science it’s driving. And MSSNG is the key.

At this early stage of the MSSNG program, we’re keeping our focus on delivering the core data – these whole genome sequences that are allowing us to build such a powerful genomics research platform. This will give us the power to advance our understanding of autism in significant and tangible ways.

We are building this platform to do two things:

First, we want to enable, engage and expand scientific research on autism. With a dataset and platform as powerful and enticing as MSSNG, we will go beyond giving current autism researchers critical new tools.

MSSNG is going to draw from the larger scientific community and bring much new expertise to autism research and our search for answers. Researchers in related fields are going to see this powerful open-access resource – a genomic resource that doesn’t exist anywhere else in the world – and become autism researchers. We will expand the brain power that’s being applied to finding treatments and improving quality of life for children and adults on the autism spectrum.

Second, we’re going to turn MSSNG’s data back around to empower the individuals and families who donated their genetic samples. We’re going to build a platform where families can explore the information in their own genomes. We’re going to make sure it helps them better understand their own diagnosis and journey.

MSSNG is going to allow them to connect with other individuals and families whose form of autism has the same genetic underpinnings as theirs. I see these communities sharing experiences and knowledge – a commonality that goes beyond the general diagnosis of autism.

In many ways, I relate this back to my family’s story around our daughter’s RD12 Leber’s congenital amaurosis. We started with this broader diagnosis that has many genetic causes. Not only does the outlook differ depending on the genetic cause of LCA, each person’s underlying genetic cause will determine the type of therapy that may make a difference.

So by identifying the genetic cause of our daughter’s specific form of LCA, we were able to connect with other families who were in the same boat. Only through understanding what was happening on the genetic level were we able to make the connections we needed, connections that have put us on the path to a potential cure.

We want to do something very similar for autism families. MSSNG will enable us to begin subdividing the catch-all term of “autism spectrum disorder” into much more precise subtypes based on genome sequencing, behavioral characteristics and other associated medical symptoms.

Not only will this give people a better understanding of what’s going on with themselves or their children, it will allow them to build the kind of network of support that my family has enjoying through our RDH12 community.

I want to thank Autism Speaks wonderful community of families, volunteers and donors for supporting this work.


Explore all the research and family-service projects that Autism Speaks is funding using this website’s 
grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.


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Lancet Neurology Publishes Series on Advances in Autism Research

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Leading autism researchers highlight progress in gene-targeted precision medicine and insights from brain imaging across the lifespan

Leading autism researchers highlight progress in gene-targeted precision medicine and insights from brain imaging across the lifespan

April 17, 2015

This week’s Lancet Neurology features a special open-access series on advances autism spectrum disorder (ASD).

In “Gene Hunting in Autism Spectrum Disorder: On the Path to Precision Medicine,” researchers Daniel Geschwind and Matthew State discuss how recently identified autism “risk genes” hold great promise as therapeutic targets for future treatments. They describe how new advances in genetic technologies such as “gene hunting” (identifying how specific genes contribute to differences in development) are improving understanding of autism’s underlying biology. They further explain how understanding each person’s unique genetic interactions could lead to a new era of “precision medicine” for autism.

“As this paper highlights, new efforts like Autism Speaks’ MSSNG (pronounced “missing”) program will continue to deliver new insights into opportunities for personalized treatments for children and adults with autism,” comments Autism Speaks Head of Genomic Discovery Mathew Pletcher. “With this knowledge, the field has begun to take the umbrella diagnosis of autism and subdivide it into genetically defined subgroups that often have their own unique health concerns and treatment needs.” 


MSSNG: “What we know about autism is not enough; MSSNG is the search for the answers.”

In “Neuroimaging in Autism Spectrum Disorder: Brain Structure and Function across the Lifespan,” Christine Ecker, Susan Bookheimer and Declan Murphy discuss how brain imaging is advancing our understanding of crucial differences in brain structure and function in people with autism across their lifespans. They describe how these studies are contributing to the development of improved diagnosis, treatment and support for those with autism and other neurodevelopmental disorders.

“Advances in neuroimaging are essential for us to understand how the brain changes with autism,” comments Autism Speaks Vice President for Innovative Technologies Dan Smith. “Progress in neuroimaging research is a long road. But already we have early signs that it will reveal better ways to diagnose autism, characterize how autism symptoms change over the lifespan and deepen our understanding of how different “autisms” develop.


Learn more about brain-imaging research funded by Autism Speaks here.

 

Explore all the research and family-service projects that Autism Speaks is funding using this website’s grant search. These projects are made possible by the passion and generosity of our families, donors and volunteers.
Subscribe to Autism Speaks Science Digest for autism research news, perspective and expert advice delivered biweekly to your inbox.

 

Vikram Patel, Autism Speaks Global Partner, Makes TIME 100 List

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TIME names Autism Speaks-funded researcher among 100 most influential people of 2015; delivering autism services to the underserved

TIME names Autism Speaks-funded researcher among 100 most influential people of 2015; delivering autism services to the underserved

April 17, 2015

Autism Speaks congratulates psychiatrist and mental-health champion Vikram Patel on being named to TIME magazine’s 100 Most Influential People for 2015. Dr. Patel was singled out for a career spent championing the mental health needs of those in resource-poor countries. This work has included pioneering research, funded by Autism Speaks, to develop training programs that empower parents and community workers to deliver effective autism therapies in communities without access to autism specialists. Dr. Patel co-directs the Centre for Global Mental Health, at the London School of Hygiene & Tropical Medicine.

“Dr. Patel has been with us every step of the way as we’ve worked with the World Health Organization to develop evidence-based interventions that work in the world’s most resource-poor regions,” says Andy Shih, Autism Speaks senior vice president for scientific affairs. “It all started with our grant to Dr. Patel’s team for research that showed nonprofessionals can deliver effective interventions and improve outcomes for children and their families.”

Just last week, Dr. Patel’s team was part of a “Master Trainer” workshop on developing parent skills, which Autism Speaks co-sponsored with the World Health Organization (WHO) in Geneva. The workshop prepared more than 30 Master Trainers to return to their countries to set up their own parent skills training programs. (To learn more, see “Autism Speaks and WHO Train 'Master Trainers' from 18 Countries.”)

“We look forward to continuing our work with Dr. Patel to deliver answers to even the lowest resourced communities around the world,” Dr. Shih says.

Learn more about Dr. Patel’s Autism Speaks research projects here and here.

Learn more about the Autism Speaks Global Autism Public Health Initiative here.

Read Dr. Patel’s “TIME 100” biography here

Co-Founders of Autism Speaks Bob and Suzanne Wright were also selected for the Time 100 List in 2008! You can read more about their honor here.

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