Today, I am happy to share the results of the Autism Speaks Science Planning Survey. Let me begin by extending tremendous thanks to the more than 6,000 people who completed the survey – including nearly 500 individuals on the autism spectrum, more than 4,000 of their family members and more than 1,700 researchers, clinicians and educators.

Your input provides integral guidance for our next three-year strategic plan for science, which we look forward to announcing later this year.

So what did we learn from our broad and diverse community? We saw strong support across the range of basic and applied autism research. Overall, we saw particularly strong support for research aimed at health and well-being, autism’s associated physical and mental health conditions, the transition into adulthood and life-span issues. This included the development of new behavioral therapies and social supports, as well as new medical treatments and improved screening and earlier diagnosis of both autism and its many associated health conditions.

Most importantly, perhaps, we are encouraged to see the strong alignment between the community’s input and the pillars of Autism Speaks mission “to enhance lives today and accelerate a spectrum of solutions for tomorrow” – with an emphasis on being a catalyst for research breakthroughs.

Already, your input is guiding the formation of our strategic planning for the next three years, and it will continue to do so in the weeks ahead as we finalize the plan and share it with you.

For those of you who would like to delve further into the survey findings, we’ve posted a question-by-question summary of the responses here.

With thanks and best wishes,

Autism Speaks Chief Science Officer Thomas Frazier

Today, the Autism Speaks MSSNG team announced the upload of an additional 2,030 fully sequenced genomes to the project’s cloud-based databank – making it the world’s largest whole genome resource for autism research, with more than 7,000 genomes from individuals affected by autism and their family members.

“To provide guidance on personalized care to people with autism, it’s important to fully understand what genetic form of autism each person has,” says MSSNG research director Stephen Scherer. “To accomplish this, we need to perform whole genome sequencing on a large and diverse group of participants and provide this information to the research community in an accessible form.” Dr. Scherer also directs The Centre for Applied Genomics at The Hospital for Sick Children (SickKids), in Toronto.

MSSNG team member Susan Walker, also of The Centre for Applied Genomics, made the announcement as part of her presentation on the Autism Speaks MSSNG program, at the annual meeting of the American Society for Human Genetics, in Orlando, Florida. She also described how the team is adding to the behavioral and medical information associated with each privacy-protected genome. These additional measures include developmental milestones, social abilities, language, sleep issues and anxiety, to name just a few.

MSSNG’s mission is to advance the development of personalized treatments and supports for people with autism based on deeper understanding of the gene variations that influence the condition’s symptoms and associated medical conditions.

Autism Speaks makes MSSNG resources freely available to qualified researchers worldwide, together with a powerful tool kit of online analytic tools. It is also developing a lay-friendly community web portal where participating individuals and families can access meaningful information about their genomes, as well as connect with individuals and families with genetic similarities if they so desire.

“We are thrilled that more than 100 scientists around the world are already using MSSNG resources to identify new subtypes of autism and study their underlying genetics and biology,” says Autism Speaks Chief Science Officer Tom Frazier. “This is the crucial research we need to address the highly individual needs of each person on the autism spectrum.”

MSSNG is a collaboration between Autism Speaks, SickKids and Verily (formerly Google Life Sciences), which hosts the MSSNG database on its cloud platform.

We've relaunched the Autism SpeaksScience Digest as a quarterly newsletter. Subscribe here for updates on autism research, perspectives from Autism Speaks science staff and experts, our popular “Got Questions” blog and notices of free webinars, webcasts and meetings of interest to the autism community. We hope you'll enjoy this resource and invite your friends to do the same. 

(December 13, 2017) Autism Speaks today released its Strategic Plan for Science 2018-2020, with emphasis on the organization’s mission to enhance lives today and accelerate a spectrum of solutions for tomorrow.

“We want see the decade ahead delivering personalized therapies and services that meet the needs of people across the autism spectrum and the life span, says Autism Speaks Chief Science Officer Thomas Frazier. “This includes increasing access to early childhood screening and intervention, to services that decrease the impact of co-occurring medical and mental health problems, and to programs that improve the transition into adulthood.”

“This plan renews our commitment to be an engine that drives cutting-edge science and paves the way for personalized autism care,” adds Autism Speaks President and Chief Executive Officer Angela Geiger. “These advances in research will help transform the landscape for people affected by autism, accelerating progress toward new and improved options that will enhance the quality of life now and in the future.”

The strategic plan’s priorities were shaped by guidance from leading autism researchers, healthcare providers, people on the autism spectrum and their families. Earlier this year, Autism Speaks collected direct input from the autism community through a 20-question, online Science Planning Survey, open to the public and completed by more than 6,000 people.

The plan’s priority objectives include:

* Support research that deepens understanding of autism’s causes, including basic research on the biological processes that lead to many different types of autism and their associated physical and mental health conditions.

* Support studies that translate these basic discoveries into promising personalized treatments and services ready to be evaluated in pilot studies.

* Foster opportunities for clinical testing of promising treatments, individual services and public health programs, with an emphasis on serving underserved communities at home and abroad.

* Improve the measurement of autism and its associated features to enhance screening, diagnosis, subgroup identification and the tracking of change during clinical trials and across the life span.

* Promote consensus-building in autism research and healthcare by facilitating engagement among professionals and with the autism community, with the goal of speeding and expanding the delivery of effective, evidence-based care and services.

* Continually review research areas and Autism Speaks science activities to identify those ripe for culmination or transition to other funding sources and to ensure that new research funding complements rather than duplicates that by other funding organizations. In this way, Autism Speaks can best fulfill its signature role of supporting highly innovative research in its early stages, identifying the most promising discoveries and therapies for expanded support by larger funders such as the National Institutes of Health.

* Broadly and effectively communicate our science strategic plan and ongoing progress against its goals, with an emphasis on engaging with the autism community.

“The plan released today is a living document,” Dr. Frazier emphasizes. “We will continue to review progress and incorporate feedback in the coming years.”

Read the full Autism Speaks Strategic Plan for Science 2018-2020, including the proposed activities to achieve the above objectives here.

Join Dr. Frazier tomorrow (Dec 14) at 1 pm Eastern for a Facebook Live Chat about the science plan. We welcome your thoughts and questions.

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

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

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

The selections listed below include commentary by science staff and advisors with related expertise. (Autism Speaks funding noted where applicable)
 

Harnessing the power of parent participation in early intervention

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

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

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

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

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

Advances and insights in autism genomics

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Yuen RK, Merico D, Bookman M, et al. Nat Neurosci. 2017 Apr;20(4):602-11. [Autism Speaks research grants 9767, 9365, 7907]

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

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium. Mol Autism. 2017 May 22;8:21.

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

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

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

Deciphering early differences in infant behavior and brain development

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

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

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

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

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

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

New insights into predictors and possible contributors to autism

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

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

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

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

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

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

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

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

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

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

Autism Speaks, with generous support from the Royal Arch Masons International, is pleased to announce two new funding opportunities for research focused on improving understanding, evaluation and treatment of auditory processing disorders among people who have autism and related conditions.

The goal is to increase quality of life, with an emphasis on personalizing interventions.

Since the 1970s, the Royal Arch Masons International have ranked among the leading philanthropies helping children with auditory processing disorders, also known as central auditory processing disorders. This includes a range of conditions affecting the way individuals process the information they hear. Many people with autism have related challenges that can include difficulty using and comprehending speech and/or paying attention to and remembering spoken information.

The new research grant opportunities include

one pilot research award, up to $60,000

and

one predoctoral fellowship award, up to $40,000.

Autism Speaks seeks proposals for research that will

* increase understanding of the relationship between auditory processes and neurobehavioral function;

* lead to improved treatments for auditory processing challenges and related brain function and behavioral challenges;

* improve healthcare guidelines for identifying, evaluating and treating central auditory processing disorders;

* hold the potential to increase quality of life for people who have differences in brain development.

Find more information and instructions for applying in this Request For Applications.

Also see:

Autism Speaks announces 2016 Royal Arch Masons fellowship

A new U.S. Food and Drug Administration (FDA) report, “The Voice of the Patient: Autism,” distills the input the agency received from members of the autism community during a 2017 public meeting and panel discussion on Patient-Focused Drug Development in Autism.

The public meeting and report are part of a broader FDA initiative to make patient priorities an integral part of drug development.

The FDA’s most familiar role is as the arbiter of whether a new medicine is safe and effective for public use. The agency also plays a crucial role in guiding the early design of studies that aim to bring new treatments to market. It is in this second role that the agency has promised to represent patient priorities and perspectives.

For instance, the new FDA report on the autism community’s priorities includes emphasizes a desire for therapies that “alleviate our discomforts rather than … take away our unique gifts.”

It also notes a community consensus on prioritizing treatments for the many health conditions that frequently accompany autism. These include epilepsy, GI disorders, disrupted sleep, medication-related obesity and mental health challenges including anxiety, attention deficit and hyperactivity disorder (ADHD) and depression. (To learn more, see Autism and Health: A Special Report by Autism Speaks.)

By contrast, participating members of the autism community expressed relatively low interest in medicines or other therapies that decrease sensory-related repetitive behaviors such as flapping and spinning. So in using that feedback, the FDA might discourage researchers from making “decreased repetitive behaviors” a primary goal in a study evaluating the benefits of a new medicine or other treatment.

Read the full FDA report here.

Click hereto read a Q&A with meeting participants Stuart Spielman, Autism Speaks’ senior policy advisor and counsel, and Thomas Frazier, Autism Speaks’ chief science officer. They attended as parents of children who have autism, and Dr. Frazier also participated as a panelist.

In a new study, an international team of researchers used the power of whole genome sequencing to discover a previously hidden type of genetic change associated with autism. They also discovered that these rare structural variations are inherited almost exclusively from fathers – for reasons yet to be discovered.

The report appears today in the journal Science.

“These unexpected findings broaden our appreciation for the enormous diversity of ways that autism develops, and in doing so, hold promise for the development of personalized therapies and services,” says Autism Speaks Chief Science Officer Thomas Frazier. “This study also illustrates the importance of the detailed, comprehensive research made possible through whole genome sequencing.”

The researchers analyzed the complete genomic sequences of 9,274 people in families affected by autism. The vast majority of these people had contributed DNA to the Simons Simplex Collection or the Autism Speaks MSSNG Whole Genome Sequencing Project.

Exploring the genome’s “dark matter”

The researchers linked increased risk for autism to rare structural changes (deleted or duplicated DNA sequences) in the still-mysterious “noncoding” region of the human genome.

This region makes up 98 percent of our DNA. It lies outside the 2 percent of our DNA that makes up our genes. (Genes “code,” or spell-out directions, for creating proteins. Proteins, in turn, control the development and activity of every cell in the body.)

Until recently, researchers largely ignored the noncoding portion of the genome, and some even dubbed it “junk DNA.” We now know that noncoding DNA plays a crucial if incompletely understood role in directing when and where our genes switch on and off. This precise coordination of gene activity is particularly crucial for brain development and function.

Hidden structural variations

Still, a role for non-coding structural variations, like the duplications and deletions identified in the new study, had not been widely investigated until now. This was due, in part, to the difficulty of detecting these variations and their effects.

The research team developed a new method for analyzing whole genome sequences that allowed them to both detect the rare noncoding structural changes and identify which ones disrupt the regulation of gene activity and contribute to autism.

“This represents an important step toward understanding how variation in the ‘switches’ that turn genes on and off influence the development of the brain and risk for autism,” says senior study author Jonathan Sebat, of the University of California San Diego School of Medicine. “Still larger studies could help to identify specific switches that are important and could significantly improve the value of [whole genome] DNA sequencing in the clinic.”

From basic science to applications that improve lives

The goal of clinical genome sequencing for autism is to guide the development of personalized plans to address each person’s needs for treatment and/or support services. This is particularly important for the many subtypes of autism that are accompanied by serious medical problems and cognitive disabilities.

“This kind of analysis can only be done using whole genome sequence data and is, in part, why we created MSSNG,” says study co-author Stephen Scherer. Dr. Scherer is the research director of the Autism Speaks MSSNG program. He also directs the Centre for Applied Genomics at Toronto’s Hospital for Sick Children (SickKids) and the McLaughlin Centre at the University of Toronto.

“Understanding different types of genetic variants is vital to understanding the biochemical pathways that underlie autism,” adds Dean Hartley, Autism Speaks senior director of discovery and translational science. “Once we understand a given pathway, we can design personalized interventions that support or change that pathway to increase a person’s quality of life.”

Follow these title links to learn more about:
the Autism Speaks MSSNG program
and
the Autism Speaks Strategic Plan for Science 2018-2020.

The Centers for Disease Control and Prevention (CDC) today released its biennial update of autism’s estimated prevalence among the nation’s children, based on an analysis of 2014 medical records and, where available, educational records of 8-year-old children from 11 monitoring sites across the United States.

The new estimate represents a 15 percent increase in prevalence nationally: to 1 in 59 children, from 1 in 68 two years previous.

However, prevalence estimates varied widely between monitoring sites, with significantly higher numbers at sites where researchers had full access to school records. This suggests that the new national numbers reflect a persistent undercount of autism’s true prevalence among the nation’s children.

“These findings demonstrate that while progress has been made on some fronts, there is still much work to do,” says Autism Speaks President and Chief Executive Officer Angela Geiger. “They urgently warrant a significant increase in life-enhancing research and access to high quality services for people with autism across the spectrum and throughout their lifespan.”

Autism Speaks calls on legislators, public health agencies and the National Institutes of Health to advance research that helps us better understand the increased prevalence and the complex medical needs that often accompany autism. In doing so, policy makers should follow the U.S. Interagency Autism Coordinating Committee’s recommendation to double the autism research budget.

Autism Speaks also urges government leaders to advance policies that better provide individualized support and services in areas including education, transition to adulthood, residential options and employment.

Key findings of the new report include:

* Nationally, 1 in 59 children had a diagnosis of autism spectrum disorder (ASD) by age 8 in 2014, a 15 percent increase over 2012.

* But estimated rates varied, with a high of 1 in 34 in New Jersey (a 20 percent increase), where researchers had better access to education records. On the low side, autism’s estimated prevalence in Arkansas was just 1 in 77. “This suggests that the new national prevalence estimate of 1 in 59 still reflects a significant undercount of autism’s true prevalence among our children,” says Autism Speaks Chief Science Officer Thomas Frazier. “And without more and better research, we can’t know how much higher it really is.”

* The gender gap in autism has decreased. While boys were 4 times more likely to be diagnosed than girls (1 in 37 versus 1 in 151) in 2014, the difference was narrower than in 2012, when boys were 4.5 times more frequently diagnosed than girls. This appears to reflect improved identification of autism in girls – many of whom do not fit the stereotypical picture of autism seen in boys.

* White children were still more likely to be diagnosed with autism than were minority children. However, the ethnic gap had narrowed since 2012, particularly between black and white children. This appears to reflect increased awareness and screening in minority communities. However, the diagnosis of autism among Hispanic children still lagged significantly behind that of non-Hispanic children.

* Disappointingly, the report found no overall decrease in the age of diagnosis. In 2014, most children were still being diagnosed after age 4, though autism can be reliably diagnosed as early as age 2. Earlier diagnosis is crucial because early intervention affords the best opportunity to support healthy development and deliver benefits across the lifespan.

“It’s encouraging to see evidence of improved identification of autism in girls and minority groups,” Dr. Frazier says. “We must continue to narrow this gap while greatly speeding up the time from first concerns about a child’s development to screening, diagnosis and intervention. If most children aren’t being diagnosed until after age 4, we’re losing months if not years of intervention that can deliver benefits throughout their lives.”

Other findings

* The new report found that new diagnostic criteria for autism adopted in 2013 (DSM-5) made only a slight difference in prevalence estimates. Autism prevalence was slightly higher (by 4 percent) based on the older (DSM-IV) definition of autism compared to DSM-5. Future prevalence reports will be based fully on the DSM-5 criteria for autism and provide a better measure of the change’s impact.

* The nation still lacks any reliable estimate of autism’s prevalence among adults. As autism is a lifelong condition for most people, this represents an unacceptable gap in our awareness of their needs – particularly in areas such as employment, housing and social inclusion. Each year, an estimated 50,000 teens with autism age out of school-based services.

A wide range of resources for recognizing early signs of autism and for accessing support and services throughout the lifespan are available at AutismSpeaks.org.

Autism Speaks encourages people to go to AutismSpeaks.org  and volunteer, donate and get others to come on board. Now is the time to make a difference for the millions of people with autism worldwide.

The Interagency Autism Coordinating Committee (IACC) has published its annual list of the past year’s highlights in autism research – 2017 IACC Summary of Advances in Autism Spectrum Disorder Research.

Eight of the “Top Twenty” reportscame out of studies supported by Autism Speaks, either directly through research grants or through the Autism Speaks Autism Treatment Network (ATN) in its federally funded role as the Autism Intervention Research Network for Physical Health (AIR-P).

The twenty scientific papers spanned the broad range of autism research, including new findings on:

* early brain development in infants at risk for autism

* the interplay between genetic and epigenetic effects in autism

* the brain and behavioral effects of parent-led, play-based interventions

* a promising medication to curb obesity and diabetes risk related to the use of anti-psychotic medicines

* improved understanding of the benefits and limitations of the behavioral and diagnostic scales used by clinicians when diagnosing and meeting the needs of people who have autism.

“Autism Speaks is proud to have supported these ground-breaking studies in its commitment to being a catalyst for research breakthroughs that improve the lives of people who have autism,” says Autism Speaks Chief Science Officer Thomas Frazier. “This work is truly made possible by the passion and generosity of our volunteers and donors.”

The selections supported by Autism Speaks include:

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

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

A prospective study of the concordance of DSM-IV and DSM-5 diagnostic criteria for autism

spectrum disorder. Mazurek MO, Lu F, Symecko H, et al. J Autism Dev Disord. 2017 Sep;47(9):2783-2794. [Autism Speaks ATN and the AIR-P]

Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder. Andrews SV, Ellis SE, Bakulski KM, Sheppard B, et al. Nat Commun. 2017 Oct 24;8(1):1011. [Autism Speaks research grants 7659 and 6020]

Adaptive behavior in autism: minimal clinically important differences on the Vineland-II. Chatham CH, Taylor KI, Charman T, et al. Autism Res. 2017 Sep 21. [Autism Speaks science staff and Autism Speaks ATN and the AIR-P]

A randomized, placebo-controlled trial of metformin for the treatment of overweight induced by antipsychotic medication in young people with autism spectrum disorder: open-label extension. Handen BL, Anagnostou E, Aman MG, et al. J Am Acad Child Adolesc Psychiatry. 2017 Oct;56(10):849-856.e6. [Autism Speaks ATN and the AIR-P]

Parent-delivered early intervention in infants at risk for ASD: effects on electrophysiological and

habituation measures of social attention. Jones EJ, Dawson G, Kelly J, et al. Autism Res. 2017 May;10(5):961-972. [AS research fellowship 2140]

For more information about the IACC’s publications and activities, visit www.iacc.hhs.gov.

For more on the top research studies of 2017, also see
“Autism Speaks names top ten autism studies of 2017.”

Autism Speaks is proud to be a longstanding sponsor of the annual meeting of the International Society for Autism Research (INSAR), this year in Rotterdam, the Netherlands, May 9- 12. The conference is the world’s largest gathering of autism scientists, doctors, therapists, parents and individuals on the spectrum.

Events include more than 20 scientific presentations by Autism Speaks science staff, funded researchers and clinicians in the Autism Speaks Autism Treatment Network. Each provides a glimpse into the early findings of one or more highly promising research projects that was competitively selected for presentation by the INSAR leadership.

“Autism Speaks is honored to continue our sponsorship of the INSAR meeting as the leading conference for discoveries in autism research,” says Autism Speaks Chief Science Officer Thomas Frazier. “The studies presented this year cover the full range of research from genetics and biology to early brain changes to the delivery of tailored interventions. They represent meaningful advances in our understanding of the biology of autism and improvements in our ability to deliver interventions that improve lives.”

You can view the full lineup of Autism Speaks-affiliated presentations and activities in the program book below.

We’ll also be updating this page with daily news briefs from Rotterdam. So please bookmark it and stay tuned.  

Download the AS@INSAR program book here.

Autism Speaks invites the public to free local presentations of its “Autism Research Series: Discovery to Solutions,” featuring Chief Science Officer Thomas Frazier and other senior members of the Autism Speaks staff. Together with local autism researchers, they will explore important new scientific advances in support of people with autism and their families.

All the events will include “town hall” style discussions with panelists and audience members.

The Autism Research Series is open to all, with a special welcome to people with autism and their families, researchers, educators, clinicians and policy makers, in addition to members of the local community

“Autism Sp​eaks is committed to being a catalyst for life-enhancing research with a special focus on near-term solutions for people with autism,” says Dr. Frazier. “As part of this commitment, we are pleased to join local autism researchers and community members to explore the important implications of the latest findings.”

Autism Speaks launched this highly popular series of research discussions in 2017. The 2018 summer schedule below includes hyperlinks for details and free registration to each event.

Boston June 6

St. Louis June 11

Seattle June 14

Dallas June 18

Tampa June 20

Atlanta July 26

Your town not on the list, or you can’t attend in person? Watch an archived live stream of the “Discovery to Solutions” presentation recently hosted by the Autism Speaks Minnesota Community here.

Subscribe to Autism Speaks’ Science Digest 
to receive autism research news and expert advice posts delivered quarterly to your inbox.

Autism Speaks is pleased to announce $1.5 million in funding for two clinical trials evaluating new medical and behavioral therapies, with an emphasis on addressing the physical and mental health conditions that frequently accompany autism.

“Our goal is to identify near-term solutions for autism-related behaviors that reduce quality of life and to develop improved treatments for the medical conditions that affect many people on the spectrum,” says Autism Speaks Chief Science Officer Thomas Frazier.

Children and adults affected by autism have strikingly high rates of many medical and mental health conditions including epilepsy, gastrointestinal disorders, disrupted sleep and anxiety, as well as behaviors and communication challenges that can interfere with safety, learning and daily function.

“Funding clinical trials focused on more-effective treatments goes directly to our mission of enhancing lives today while accelerating a spectrum of solutions for tomorrow,” Dr. Frazier says.

The new research funding will support two separate clinical trials enrolling people with autism. The research grants will extend for up to three years, with up to $250,000 in funding per year for each study.

In inviting applications for this funding, Autism Speaks is looking for research that emphasizes the following:

* Target outcomes (goals) should include improvements in one or more medical and/or mental health conditions associated with autism, in addition to improvements in challenging autism symptoms that decrease the quality of life.

* Autism Speaks will give preference to clinical studies that include less cognitively able participants. Around one-third of people with autism have an intellectual disability, and this population has been underrepresented in autism research.

* The study should include objective measures, or biomarkers, of improvements and other changes over the course of the clinical trial. This is in line with Autism Speaks’ strategic goal of fostering consensus and objectivity in how autism research identifies and measures the benefits of new therapies, support services and other approaches to improving quality of life for people on the spectrum.

Researchers can find the official request for applications (RFA), including technical requirements and deadlines here.

To learn about some of the past clinical studies funded by Autism Speaks, also see:

* More evidence that melatonin eases autism-associated insomnia

* New insight into autism and intestinal problems

* Folinic acid improves communication, eases autism symptoms in some children

* Speech devices can help build language in minimally verbal schoolchildren with autism

* Study finds sensory integration therapy benefits children with autism

* Researchers launch study with oxytocin nasal spray

* Preschoolers with autism gain when teachers foster shared attention

* Small study finds B12 injections ease autism symptoms in some children

Subscribe to Autism Speaks’ Science Digest 
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Your guidance will help us develop an easy-to-use information resource to help you assess and select the best options for you and your children.

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In this month’s Autism Matters podcast, host Laura Crane interviews Autism Speaks-funded researcher Helen Tager-Flusberg about innovative ways to include nonverbal and minimally verbal children and adults in autism research.

“In part [this is] because of the challenging behaviors they present alongside their very limited means for communication,” Dr. Tager-Flusberg writes in this month’s issue of Autism.

In the podcast and its related article, Dr. Tager-Flusberg discusses some of the methods she has successfully used to include this often-neglected group in her studies. She also discusses some of the advances in understanding autism that have resulted from involving those who have little or no language.  

* Listen to the podcast here:

* Read about Dr. Tager-Flusberg’s Autism Speaks funded research and fellowships here.

* Learn more about the Autism Matters podcast series – and listen to past podcasts here.

Also see “Autism Speaks (and signs)”

Autism Speaks, with the support of a Royal Arch Research Assistance grant, is funding a pilot study and a research fellowship to address sound-processing difficulties among people with autism and other developmental disabilities.

Royal Arch Masons International ranks among the leading charities helping children with central auditory processing disorder. Many people with autism have related challenges. They can include difficulty using, understanding and remembering information conveyed through speech and other sounds.

“We’re deeply grateful to the Royal Arch Masons for this opportunity to advance understanding of a major communication and learning challenge for people with autism,” says Autism Speaks Chief Science Officer Tom Frazier. “Our longstanding partnership continues to advance the development of more-effective and personalized interventions that improve lives.”

Also see Autism and auditory processing disorder: What’s the connection?”

The one-year pilot study will be funded at $60,000. The two-year fellowship will be funded at $80,000.

Two groundbreaking research projects

In the pilot study, neuropsychologist Aysenil Belger will assess how sound processing difficulties develop in families affected by autism. Dr. Belger directs the developmental disabilities research center at the University of North Carolina at Chapel Hill. Her coinvestigator is speech-language pathologist Linda Watson.

Our goal: To guide the development of early interventions that ease the symptoms of auditory processing disorder in autism.

The study will enroll 20 infants (ages 12 to 18 months) from families affected by autism. For comparison, it will include 20 babies from unaffected families. The researchers will identify differences in brain activity related to sound processing and their associations with autism symptoms and language development. Learn more about this study.

Royal Arch Masons fellowDeborah Rupert will identify brain-pathway changes caused by mutations in the MECP2 gene. Changes in the MECP2 gene result in Rett syndrome, which shares features with both autism and auditory processing disorder.

Our goal: To identify brain pathways that respond to treatment to ease symptoms of auditory processing disorder and autism.

Ms. Rupert will pursue her research at Cold Spring Harbor Laboratory under the guidance of Stephen Shea. Learn more about this fellowship project.

A longstanding partnership to improve lives

In 2011, Autism Speaks and the Royal Arch Masons forged a strong relationship that has included $1 million in pledged funding. In 2016, Autism Speaks announced the first Royal Arch Masons Fellowship. In addition to supporting research, Royal Arch Mason funding helps Autism Speaks teach healthcare providers and caregivers about auditory processing disorder in autism and the importance of evaluation when children show related challenges.

"The General Grand Chapter Royal Arch Masons and our members are proud to be partnering in a major effort to make a real difference for the benefit of all mankind in dealing with central auditory processing disorder through our philanthropy Royal Arch Research Assistance," says Jim Hodge, president of the Royal Arch Research Assistance board of directors. 

Subscribe to Autism Speaks’ Science Digest 
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