Researchers studying the development of babies in families affected by autism report that motor and visual attention delays at 6 months of age predict a high likelihood of severe autism by age 2. By contrast, children who develop milder forms of autism tend to show their first delays in social and communication skills and do so around 12 months of age.

The findings are important, the investigators say, because they advance understanding of the different ways that autism develops.

The findings also add to a growing body of research that suggests that subtle early signs of autism are evident much earlier than previously thought. At present, autism generally can’t be diagnosed until 18 to 24 months, when its core symptoms of repetitive behaviors and social and communication problems become obvious.

The study, supported in part by Autism Speaks, appears online in the Journal of Neurodevelopmental Disorders.

The study’s authors include several members of Autism Speaks Baby Sibling Research Consortium. BSRC investigators focus on the development of babies born into families that already have a child on the autism spectrum. Because autism tends to run in families, these “baby sibs” are at high risk of developing the condition. In fact, earlier BSRC research shows that autism rates among baby sibs are 20 times higher (1 in 5) than in the general population (1 in 68). Another one in five baby sibs develop some autism-related delays and challenges.

The researchers tracked the behavioral and intellectual development of 210 baby sibs using standardized tests and parent interviews at 6, 12 and 24 months of age. For comparison they also tracked the development of 98 babies in families not affected by autism.

Red flags for severe autism

By 24 months, 49 of the 210 baby sibs had a diagnosis of autism. Of these children, those with the most severe autism symptoms had shown delays in motor development and visual attention at 6 months. In particular, they had lagged in the ability to lift their heads and watch people’s faces. At 24 months, their severe symptoms tended to involve challenging behaviors and difficulty with daily living skills such as drinking from a cup.

By contrast, the children who developed milder forms of autism had not shown motor or visual attention delays at 6 months. Their first symptoms appeared around 12 months of age and tended to involve delays in language development.

The researchers caution that the early delays they found at 6 and 12 months are not easily detected without specialized testing. The importance of the findings, they emphasize, may be in advancing understanding of how different forms of autism develop – with an eye to developing early interventions of particular benefit to particular children.

“These studies of high-risk infant siblings show again and again that autism starts early, with some children showing delays and differences in development by 6 months of age,” comments developmental pediatrician Paul Wang, head of medical research at Autism Speaks. “We need to continue this line of research, so we can start interventions at the earliest possible time.”

“This research is also showing that different children may show different paths in the development of their symptoms,” Dr. Wang adds. “This underscores the need to tailor interventions for each child, depending on his or her needs.”

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

A small, carefully controlled study found no improvement in behavior, autism symptoms, sleep patterns or bowel habits when children with autism were placed on a gluten-free, casein-free diet.

The diet is popular among families who have children with autism. Some propose that gluten (a protein found in wheat and some other grains) and casein (a protein found in dairy products) can worsen autism symptoms by causing inflammation in the gut that spreads to the brain.

The study findings appear online in the Journal of Autism and Developmental Disorders.

In the study, the researchers first placed 14 children with autism, ages 3 to 5 years, on a gluten/casein-free diet for 4 to 6 weeks. Then, over the following 12 weeks, they sent home look-alike, taste-alike snacks and meals that either contained gluten and/or casein or were gluten/casein-free. Neither researchers nor parents knew when a child was getting food containing gluten and/or casein until the end of the study.

Meanwhile, parents completed detailed questionnaires on their children’s behaviors, sleep patterns and bowel movements. (Many children with autism suffer from chronic constipation and/or diarrhea.) 

When the researchers broke the code to see when each child received gluten and/or casein foods, they found no pattern of improvement or worsening of behavior or other issues.  

At the same time, the researchers found that – with nutritional counseling – families can adopt a gluten/casein-free diet without causing nutritional deficiencies in their children.

They call for larger studies enrolling more children to see if there is a small subset of children whose autism symptoms are helped by the diet. Such studies need to ensure that neither parents nor researchers know when children are eating gluten and/or casein, they say, so that expectations don’t influence results.

The research was led by Susan Hyman, who co-leads the Autism Speaks Autism Treatment Network site at the University of Rochester Medical Center. It was supported by research grants from the National Institutes of Health and the University of Rochester.

For more on the study, also see “Autism Isn’t Helped by Gluten-Free Diet: Study,” in the Wall Street Journal.

Also see “How helpful is the casein-gluten-free diet?” in the Autism Speaks Food for Thought blog.

After serving 13 years as director for the National Institute of Mental Health (NIMH), Tom Insel will leave to join the Google Life Sciences team at Alphabet (formerly Google) in November. As director of the NIMH, Dr. Insel also chaired the Interagency Autism Coordinating Committee (IACC) of the U.S. Department of Health and Human Services.

In his new role, Dr. Insel will lead a new program creating technology for earlier detection, better prevention and more effective management of mental health conditions.

Google Life Sciences is a vital partner to MSSNG– Autism Speaks’ historic program to sequence the whole genomes of 10,000 people in families affected by autism and make this unprecedented information available for global research that improves the lives of those affected by the condition.

In the 1990s, Dr. Insel was the founding director of Emory University’s Center for Behavioral Neuroscience and director of its federally funded Center for Autism Research. Known for his research into the neurobiology of complex social behaviors, Tom was a pioneer in the study of the role oxytocin and vasopressin in social bonding.

For more on Dr. Insel’s NIH departure, see the NIH Director’s Statement Regarding Dr. Thomas Insel’s Departure.

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

The Escher Fund for Autism, Autism Speaks and the Autism Science Foundation invite you to the first in an ongoing series of free symposia on the environmental epigenetics of autism, Oct. 1st at 1 pm Eastern.  

Speakers will include cell biologist Amander Clark, of the University of California, Los Angeles, and geneticist Ryan Yuen, of Toronto’s SickKids Hospital. Their talks will be followed by discussion and questions from the audience.

Both researchers and the lay public are welcome.

Click here for free registration.

Dr. Clark is one of the world’s leading molecular biologists studying environmental effects on the germline in laboratory animals. Ryan Yuen published one of the first genome-sequencing studies in autism.

“This webinar is meant to start a dialogue between researchers of different disciplines and to explain to the community the scientific questions researchers are tackling,” says Alycia Halladay, chief science officer of the Autism Science Foundation. “It may raise more questions than answers, but it will be incredibly important for bringing in fresh ideas from other disciplines to address some of autism’s greatest mysteries."

“It has long been thought that the underlying cause of autism is result of an interaction between genetics and environment,” adds Mathew Pletcher, Autism Speaks’ head of genomic discovery. “While our understanding of autism genetics has seen significant advancement in the last decade, a similar understanding of environmental influences has remained more elusive. With this seminar series, we hope to bring these two fields of studies back together to inform each other and develop a more holistic view on how autism can arise.”

Click here for free registration.

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

The Society for Neuroscience and the American Brain Coalition invite researchers and the general public to a free webinar, “New Discoveries in Brain Technology: The Potential of the BRAIN Initiative,” on Thursday Sept. 24^th, at 1 pm Eastern

Register here.

The US Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is an ambitious national project to develop new technologies to study the brain and advance understanding of neurological disorders. These tools and methods are helping researchers deepen their basic understanding of brain complexities and create a foundation for future progress on a wide range of neurological and psychiatric conditions that affect a billion people worldwide.

This webinar will focus on one such tool, and guests will discuss its potential to advance research on developmental disorders such as autism. Come learn more about this innovative project, how basic science can propel the advancement of treatments in unexpected ways.

Speakers will include:

Robert Ring, chief science officer for Autism Speaks, the largest science and advocacy foundation focused on autism. Dr. Ring leads the organization’s science mission, which is focused on “putting scientific breakthroughs to work for families.” He has overseen the launch of numerous initiatives that have dramatically expanded the strategic scope and increased the impact of the science investments at Autism Speaks. Dr. Ring holds separate adjunct faculty appointments in the psychiatry department at Mount Sinai School of Medicine and department of pharmacology and physiology at Drexel University College of Medicine.

Spencer Smith, assistant professor in the cell biology and physiology department at the University of North Carolina School of Medicine. His lab explores how neurons and the networks they form compute. To enable new neurobiology experiments, his lab is engineering novel optical systems for two-photon imaging of neural activity across large brain volumes with single neuron resolution.

Nancy Minshew, child neurologist and professor of psychiatry and neurology at the University of Pittsburgh. For the past 30 years, Dr. Minshew’s clinical research has focused on elucidating the cognitive and brain basis of autism. She is focusing on developing and testing new interventions to improve generalizable thinking skills and adaptive function in adolescents and adults with autism. Dr. Minshew also played a central role in the establishment of three state-funded regional autism centers in Pennsylvania, and an Autism Speaks treatment network site in Pittsburgh.

The U.S. National Institute of Mental Health (NIMH) and Canada’s Ontario Brain Institute are linking their big data initiatives to advance autism research.

Researchers suspect there are many complex causes and subtypes of autism. This makes the disorder complicated to study and treat. For these reasons, autism researchers come from a wide-range of scientific and medical backgrounds are looking at broad collections of data ranging from brain imaging to behavioral assessments.

The new US-Canadian collaboration will combine information from the Brain Centre for Ontario Data Exploration (Brain-CODE) and the National Database for Autism Research (NDAR) to provide a common platform for autism researchers worldwide. It will include analytic tools and findings from a broad range of studies, ranging from brain imaging to behavioral assessments.

It will complement other global big data endeavors such as Autism Speaks MSSNG program. MSSNG is sequencing the whole genomes of 10,000 individuals in families affected by autism and uploading them to the Google Cloud Platform together with analytic tools to advance research that improves the lives of those affected by autism.

"By combining resources, we significantly increase our chances to both understand [autism’s] different underlying biologies and to translate such discoveries into novel treatments," says Canadian autism researcher and pediatric neurologist Evdokia Anagnostou, of Toronto’s Holland- Bloorview Kids Rehabilitation Hospital. (Dr. Anagnostou co-directs the Autism Speaks Autism Treatment Network center at Bloorview.)

"Autism Speaks partners with both Ontario Brain Institute and NIMH and applauds this collaborative initiative to increase supports for the ASD research community,” adds Jill Farber, executive director of Autism Speaks Canada. “We value the significance of cross-border partnerships as vital to accelerating advancements in ASD knowledge."

A small new study suggests a high rate of Parkinson’s disease among middle-aged adults with autism. If confirmed with larger studies, the findings have important implications for the care and wellbeing of an aging population of people with autism. Parkinson’s is a chronic and progressive movement disorder.

The open-access study, by researchers from the University of North Carolina and the University of Western Australia, appears the Journal of Neurodevelopmental Disorders.

In the first part of the study, the investigators found high rates of Parkinson’s motor signs (trembling, rigidity, instability, etc.) in a broad investigation of health issues among 19 adults with autism in their fifties and older.

The researchers then followed up with a more-targeted assessment for Parkinson symptoms in another 18 adults with autism in their forties or older. In this group, they found 12 participants (32 percent) met the basic diagnostic criteria for Parkinson’s.

However, some of these participants were taking medications for epilepsy, anxiety and other issues. Because such medications and conditions can complicate a diagnosis, the investigators ran their analysis again looking only at the 20 participants who were not on psychoactive medicines. Four of these participants (20 percent) received a diagnosis of Parkinson’s disease.

By contrast, Parkinson’s affects less one tenth of one percent (0.1 percent) of the general population over age 60.

“Understanding the neurobiology, associated conditions and care needs of older adults with autism is largely unexplored territory,” says senior author Joe Piven, a psychiatrist and autism researcher at the University of North Carolina.  “With the knowledge that autism is typically a lifelong condition and the coming tsunami of population growth, this lack of knowledge and capacity for care is a huge, looming public health issue.”

Dr. Piven and his co-authors also note that autism and Parkinson’s share many overlapping characteristics. Some of the same gene changes that increase risk for Parkinson’s are likewise implicated as contributing to autism. Both disorders affect similar brain regions and motor control. The overlap suggests that the two disorders may share similar underlying biology, the researchers say, and might even respond, in some cases, to similar treatments.

In a Q&A with the journal’s editors, Dr. Piven adds:

“There is good reason to think that as far as findings in older adults with autism are concerned, this report is just the tip of the iceberg…. The overwhelming focus in autism to date has been on children, adolescents and more recently young adults. But research on ‘older adults with autism’ is a new frontier that will likely reveal very rich and important new knowledge about this condition.” Read the full Q&A at BioMed Central here.

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

New research suggests that, in at least half of cases, autism traces to one of roughly 200 gene-disabling mutations found in the child but neither parent.

Many of these “high-impact” mutations, the investigators found, completely disable genes crucial to early brain development. In addition, they appear to be more common among people who are severely disabled by autism versus those only mildly affected.

The study, by scientists at Cold Spring Harbor Laboratory, New York, appears this week in the Proceedings of the National Academy of Sciences. (Download the full paper here.)

The DNA analysis of 1,866 families affected by autism looked at the growing list of more than 500 gene changes known to increase autism risk. It identified 239 genes with the greatest likelihood of causing autism if disrupted by a mutation.

This shortened “priority list” may prove particularly helpful to doctors and geneticists using genetic screens to guide diagnosis and personalized treatment.

The study’s findings run counter to the commonly held idea that autism almost always results from a complex interplay of common and subtle gene changes and environmental influences – none of which would cause autism by itself.

“These findings argue strongly that genetics can provide meaningful answers for a significant portion of individuals with autism,” comments Mathew Pletcher, head of Autism Speaks’ genomic discovery program. “From this extends the idea we can provide better care and support by deepening our understanding of the health risks that arise from each person’s specific genetic disruption.” (Dr. Pletcher was not involved in the new study.)

Autism Speaks’ MSSNG program aims to drive such advances by providing the global autism research community with an unprecedented collection of 10,000 whole genome sequences from people affected by autism and their families. These genomes – and the sophisticated tools to work with them – are being hosted on the Google Cloud platform. (See video below.)

MSSNG: Changing the future of autism through open science. Learn more here.

Mutation in child but neither parent
Most of the high-impact mutations identified in the new study occurred in the child but neither parent. Such newly arising, or de novo, mutations first occur in the mother’s egg, the father’s sperm or early in embryo development.

Some of the first research out of the Autism Speaks MSSNG project implicated de novo mutations in the higher rates of autism seen among children of older parents. With age, a woman’s eggs and a man’s sperm-producing cells tend to accumulate these mutations. And one potential source of these accumulating mutations, Dr. Pletcher notes, is lifetime exposure to environmental “insults” such as radiation and toxic chemicals.

To learn more about the interaction of environment influences and genetics in autism, Dr. Pletcher invites readers to participate in a free October 1^st webinar. Learn more here.

Join dietician Patricia Novak and occupational therapist Karla Ausderau for a free webinar on improving nutrition in children with autism and gastrointestinal (GI) issues and/or food allergies.

The webinar will take place Oct. 21, 2015, at 1 - 2:30 pm Eastern and is sponsored by Nutricia North America, a maker of medical nutrition formulas.

Register here.

Ms. Novak works within the Autism Speaks Autism Treatment Network center at Children’s Hospital Los Angeles. She has more than 30-years’ experience helping children who have autism overcome feeding issues.

Dr. Ausderau pursues research and works with families on the sensory and motor aspects of autism-related feeding issues, at the University of Wisconsin-Madison.

Their presentation will be followed by a live question and answer period with participants.

The webinar and discussion will focus on:

* How autism’s core symptoms can affect eating

* The most common disrupted-eating patterns in children affected by autism

* How GI issues, food allergies and other underlying medical problems can disrupt eating patterns in children with autism

* Evidence-based strategies to support mealtime behavior and foster nutrition in children with autism and GI issues or food allergies

Registration is limited. Register here.

The CDC team that gave us the “Learn the Signs Act Early” campaign has released a new free online training for early childhood educators and day care providers.

“Watch Me! Celebrating Milestones and Sharing Concerns” – provides early care and education providers with tools and best practices to work with families in monitoring early development and helping children with developmental delays get the early support they need. 

The one-hour training is free, available online and approved for continuing education credit. 

Too many young children with developmental delays or disabilities miss the opportunity to benefit from early intervention services that can help them reach their full potential. The CDC asks our parents and readers to help change this situation by promoting the new training among early care and education providers in their communities.

Promote this training today to make a difference in the lives of so many children! Learn more and register for the training here.

Autism Speaks is pleased to open its request for applications (RFAs) for its 2016 Weatherstone Predoctoral Fellowships and Meixner Postdoctoral Fellowships in Translational Research. 

Both programs support the career development of promising scientists as they pursue vital investigations into the causes, diagnosis and treatment of autism under the mentorship of leading investigators in the field.

“Autism Speaks is proud to be the leading funder of pre- and post-doctoral fellowships for autism science,” says Paul Wang, Autism Speaks vice president and head of medical research. “Our fellowships support the training of the next generation of autism scientists. The energy and fresh perspectives they bring will be invaluable in developing new diagnostic and therapeutic approaches to benefit all people with autism.”

Dennis Weatherstone Predoctoral Fellowships

Autism Speaks established the Weatherstone fellowships in 2008 with a generous gift from the Stavros Niarchos Foundation. The program’s name honors the foundation’s first chairman, Dennis Weatherstone. A distinguished financier, Lord Weatherstone and his wife shared a deep commitment to supporting autism research. Lady Weatherstone continues to actively support the career development of Autism Speaks Weatherstone fellows. The Weatherstone program includes close interaction among fellows and an annual meeting with the Weatherstone family and the Stavros Niarchos Foundation.

Letters of Interest for the Weatherstone Predoctoral Fellowships are due by Thursday, Nov. 5, 2015, 8 pm ET. Access the Full Request for Applications (RFA), with detailed instructions, here.
Learn more about past and ongoing Weatherstone Predoctoral Fellowship projects here.

Meixner Postdoctoral Fellowships in Translational Research

The estate of Charles Meixner generously funds an annual class of postdoctoral fellows in translational research, continuing a successful program begun in 2011. (More about this major gift here.)

The program aims to accelerate the translation of basic scientific discoveries into new and effective methods and products for diagnosing, preventing or treating autism – while drawing highly qualified young scientists to the field. During their two-year fellowship, successful applicants pursue projects that bridge basic laboratory research and clinical, or “patient-centered,” studies. Their training includes mentoring in both basic and clinical research.

Letters of Intent for the Meixner Postdoctoral Fellowship are due by Tuesday, Jan. 12, 2016, 8 pm ET. Access the Full Request for Applications (RFA), with detailed instructions, here.
Learn more about past and ongoing Meixner Postdoctoral Fellowship projects here.

Information about all of Autism Speaks research funding opportunities can be found on the Open Grants page.

Explore all the research that Autism Speaks is funding, using this website’s Grant Search Engine. 

This week in the Journal of Developmental & Behavioral Pediatrics, pediatrician Dan Coury takes issue with the recent equivocation on universal autism screening by the US Preventive Services Task Force. Dr. Coury is the medical director of the Autism Speaks Autism Treatment Network (ATN).

The Preventive Services Task Force is now considering public comment to its controversial draft recommendations before issuing a final statement on whether scientific evidence backs universal screening for autism at 18 and 24 months.

Such screening is recommended by the American Academy of Pediatrics.

Read Dr. Coury’s full commentary – “Babies, Bathwater and Screening for Autism Spectrum Disorder” – here.

Read ongoing coverage of the recommendations and related statements from the American Academy of Pediatrics, Autism Speaks, The Autism Science Foundation, the American Speech-Language-Hearing Association and others here. 

The US Department of Health and Human Services has awarded $15 million to Massachusetts General Hospital and the Autism Speaks Autism Treatment Network (ATN) to continue serving as the Autism Intervention Research Network on Physical Health (AIR-P) for another five years.

The ATN is a network of 14 medical centers across the United States and Canada, dedicated to advancing integrated, “whole person” care of children and adolescents with autism. Mass General will again serve as the national coordinating center for the ATN’s role as the federally funded AIR-P.

MassGeneral’s Karen Kuhlthau will lead the AIR-P initiative. Dr. Kuhlthau is an associate professor in the department of pediatrics at Harvard Medical School and a widely respected expert on the special health needs of children with autism.

The Autism CARES Act of 2014 extended federal support for the AIR-P. The newest round of funding prioritizes patient-centered autism research that improves physical health, with a mandate to increase services for children in underserved communities.

“We are grateful to the Maternal and Child Health Bureau for this award, which will enable us to further the work of improving the physical health of children with autism, especially those from groups that have been long underserved,” Dr. Kuhlthau says. “This work builds on strong partnerships with ATN sites and the excellent clinical and research expertise available through the network.”

Research initiatives in the planning include:

* ECHO Autism, a tele-health program for improving autism expertise among primary care physicians, with an emphasis on training those in locations remote from major medical centers.

* The Autism Dental Project, with research focused on improving home dental care and increasing access to professional dental care for children with autism. The project will place special focus on children in underserved communities, including those covered by Medicaid.

“Over the last seven years, AIR-P funding has allowed the ATN sites to develop best practice guidelines for the medical care of children with autism, to disseminate those guidelines to the wider medical community and to study new approaches to the treatment of autism,” says ATN senior director Donna Murray. “With the new AIR-P grant, the ATN sites and clinicians will be able to extend the reach of their clinical and research efforts, with a special emphasis on addressing the needs of underserved communities.”

“Our ATN clinicians and researchers are ideally suited to do this work,” adds developmental pediatrician Paul Wang, Autism Speaks vice president and head of medical research. “They are unmatched in their extensive experience in both caring for families affected by autism and collaborating with them to identify the most pressing needs and to design the right studies to address these needs.”

Learn more about the ATN/AIR-P here.

A new study suggests that, for those who have autism, repetition of information actually hinders the ability to apply what they’ve learned to new situations.

The finding challenges many popular autism education and therapy approaches that emphasize drilling and other forms of repetition.

The study, by an international team of scientists, appears in Nature Neuroscience.

The researchers enrolled a total of 20 adults affected by autism but not intellectual disability in the study. For comparison, they also enrolled 19 unaffected adults matched for IQ, age and gender.

In the first phase of the experiment, the researchers asked ten adults with autism and nine without the condition to find the location of three diagonal lines surrounded by horizontal lines on a computer screen. (See figure at right.)

The researchers measured each participant’s speed and accuracy in finding the diagonal bars during daily practice sessions.

For the first four days, the diagonal lines remained in the same location. On day five, the bars appeared in a new location and remained there through day eight.

Those in the autism group performed just as well as the non-autistic group when learning the initial location of the bars. However, when the location of the diagonal bars changed, a substantial learning difference appeared:

* The participants unaffected by autism found the second location substantially faster than did those on the autism spectrum, and they continued to improve in speed and accuracy each day thereafter.

* By contrast, the participants with autism continued to show difficulty finding the new location. Even on day eight, they were locating it more slowly and with less accuracy than they had found the original location when they first learned the task.

This persistent difficulty, the researchers proposed, suggested that the extensive drilling on days one through four was interfering with the ability to apply the new skill (finding the diagonal bars) in a new context (a changed location).

“It’s like they showed ‘hyperspecificity’ of learning,” says lead researcher Hila Harris, of Israel’s Weizmann Institute. “Their learning became fixed and inflexible – since learning the first location adversely influenced their ability to learn the second instance.”

Next, the researchers looked for a way to circumvent the “hyperspecific” learning. They began again with the second group (ten with autism, ten without). This time, the repetition of the diagonal bar’s first location was broken up with the occasional “dummy” screen that did not contain any diagonal bars. (See figure 2 at right.)

Again the location of the bars changed on the fifth day. But this time, those in the autism group learned the new location just as quickly as those in the comparison group. And like those in the comparison group, they continued to improve in speed and accuracy.

“Our conclusion is that breaks in repetition allow the visual system some time to rest and allow autistic individuals to learn efficiently and to then generalize,” says study co-author David Heeger, of New York University.

“There have been few systematic investigations into the fundamental mechanisms by which information is acquired by ASD individuals – and into the potential reasons for their restricted, atypical learning,” adds co-author Marlene Behrmann, of Carnegie Mellon University.

The inflexible behavior often associated with autism may be what’s interfering with learning new tasks, the researchers conclude.

“These findings may help us improve educational and vocational programs for those with autism,” comments Lucia Murillo, Autism Speaks assistant director of education research.” Dr. Murillo was not involved in the study.

“Though repetition is a great way to learn new skills, being flexible is just as important,” Dr. Murillo emphasizes. “This reinforces the importance of teaching new skills to children and adults with autism in realistic ways and situations that involve change and not just rote drilling.”

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

Harvard researchers are reporting high rates of inflammatory bowel disease (IBD) in children and adults with autism. IBD includes such painful and potentially life-threatening disorders as ulcerative colitis and Crohn’s disease.

The findings, which appear in the journal Inflammatory Bowel Disease, add to the growing evidence of autism’s mysterious gut-brain connection.

Autism Speaks is funding a number of ongoing studies on autism’s gut-brain connection. Learn more about them here.

For decades, parents and then scientists have reported that gastrointestinal distress is very common among children with autism. Autism Speaks Autism Treatment Network (ATN) has helped develop guidelines on the medical management of such issues as chronic constipation and diarrhea in children with autism.

The new findings go further in establishing a link to extremely serious GI disorders unlikely to be caused by autism-related behavioral issues involving food or toileting.

Harvard bioinformatics researcher Isaac Kohane, computer scientist Finale Doshi-Velez and colleagues analyzed three large healthcare databases in the largest-ever study to look for an IBD-autism connection.

This included:
* more than 7 million patients in a nationwide Aetna insurance database, including more than 52,000 with autism, 

* more than 600,000 patients seen at Boston Children’s Hospital, including 7,201 children with autism, and

* more than 200,000 medical records from Wake Forest Baptist Medical Center, including 1,555 patients with autism.

Rates of IBD varied with age and across the databases, but they remained consistently higher for patients who had autism than for patients without autism across all age groups. (See figures below.)

Autism Speaks Head of Medical Research Paul Wang comments:

“Data from our ATN and other research groups have long shown that GI problems such as constipation, diarrhea, abdominal pain and esophagitis are very common among children with autism. This new research provides strong evidence that IBD is likewise more common in children with autism than in other children.

“IBD can cause severe discomfort and medical complications,” Dr. Wang emphasizes. “This is an issue that physicians must consider when evaluating children with autism and GI symptoms, or with unexplained pain or behavior issues.”

Explore all the research that Autism Speaks is funding using this website’s Grant Search.

This work is made possible by the passion and generosity of Autism Speaks volunteers and donors.

An international team of autism researchers and clinicians has issued a call to close the global gap in autism care by embracing new low-cost methods for screening and diagnosis in communities that lack highly trained specialists.

Their call to action – “Autism Screening and Diagnosis in Low Resource Settings: Challenges and Opportunities to Enhance Research and Services Worldwide,” appears online in the journal Autism Research. (Download the full paper here.)

“Thanks to years of collaborative work by members of the International Society for Autism Research, we now have the framework for developing high-quality, open-sourced methods for screening and diagnosing autism in low-resource communities,” explains senior author Andy Shih. Dr. Shih is Autism Speaks’ senior vice president for scientific affairs and leads the organizations Global Autism Public Health (GAPH) initiative.

“These tools are designed to be used by non-specialists,” Dr. Shih says. “They give us a way to overcome one of the biggest barriers to delivering early intervention services worldwide.” This barrier includes the high cost of using the proprietary methods currently used to diagnose autism in high-income countries such as the United States. Clinicians must pay royalties to use these methods, which also require a high degree of training to administer.

In recent years, Autism Speaks has worked with the International Society for Autism Research (INSAR) and the World Health Organization (WHO) to develop and field test open-access methods for identifying autism – methods that can be used by community health workers with little specialized training.

“These tools are the first step in making early diagnosis and intervention feasible and sustainable – both in low-income regions of the world and in underserved communities in nations such as the US,” Dr. Shih says.

Dr. Shih’s GAPH team is also working with the WHO on the global roll-out of a Parent Skills Training program that will empower community workers, parents and other caregivers to provide low-cost intervention services to children who have autism.

See “Autism Speaks and WHO Train 'Master Trainers' from 18 Countries”

University of Wisconsin epidemiologist Maureen Durkin is the lead author on the new Autism Research commentary. She and Dr. Shih were joined by 12 additional authors from the INSAR leadership.

Also see:

Identifying autism in disadvantaged regions: Challenges and opportunity

Autism researchers without borders

Autism Speaks and the World Health Organization listens

The Autism Science Foundation has launched the Autism Sisters Project, a new initiative to advance research into the autism’s “female protective effect.” The program invites unaffected sisters of boys and men with autism to participate in the research effort.

Science has yet to explain why autism is four to five times more common among boys and men than girls and women. But research suggests the presence of one or more unknown protective factors in females.

The goal of Autism Sisters Project is to build a large database of information that researchers can use to explore this phenomenon and discover how it might be harnessed to help people with autism of both sexes.

“We are learning more about how autism affects males and females differently, as well as the underlying etiological factors behind these differences,” explains Alycia Halladay, chief science officer of the Autism Science Foundation. “This is an exciting and promising opportunity to leverage that understanding for deeper research into potential factors that could have a significant impact on the lives of many people with autism.”

The Autism Sisters Project will focus on three areas:

* Gathering behavioral and genetic information on unaffected sisters and their families from existing autism databases;

* New funding to support genetic sequencing and behavioral and medical assessments of unaffected sisters in families already enrolled in autism research;

* Recruitment of new families with at least one member affected by autism and an unaffected sister. The study will take place at New York City’s Seaver Autism Center. The center is part of the Icahn School of Medicine at Mount Sinai.

“The female protective effect is a very important area of investigation in the autism research community,” says Seaver Autism Center Director Joseph Buxbaum. “This is an enormously exciting opportunity for sisters of individuals with autism to take a proactive role in advancing important research.”

To participate in the Autism Sisters Project at the Seaver Autism Center, call 212-241-0961 or email theseavercenter@mssm.edu.

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

Autism Spectrum News has awarded Autism Speaks Chief Science Officer Rob Ring its Beacon of Hope Award for Advancing Autism Science. Dr. Ring received the honor at the publication’s annual leadership awards reception last night, in White Plains, New York.

The award recognizes Dr. Ring’s “dedication to furthering scientific research to improve our understanding of the causes of autism and the development of effective treatments,” said Autism Spectrum News publisher David Minot.

“Autism Spectrum News is a vital source of trusted news and impactful voice among the autism community,” Dr. Ring said. “It’s a great honor to be recognized with this leadership award, which is as much an acknowledgement of the amazing work Autism Speaks is doing everyday on behalf of families as it is a personal accolade."

Other 2015 awardees included:

Peter Pierri, executive director of New York City’s InterAgency Council of Developmental Disabilities Agencies, received the Beacon of Hope Award for Advocacy.

Richard Swierat, executive director of Arc of Westchester, received the Beacon of Hope Award for Community Impact. Arc of Westchester serves teens and adults with autism and other developmental disabilities.

Proceeds from the event will enhance autism education and awareness by expanding the free print distribution of Autism Spectrum News, Mr. Minot said. View the current online issue here. 

Today in Science magazine, Harvard neurologist Mustafa Sahin and MIT brain scientist Mriganka Sur summarize scientific progress toward delivering precision treatments for autism spectrum disorder (ASD).

“Given the large number of genes that potentially confer ASD risk, the genetic heterogeneity of ASD presents a substantial obstacle to development of one-size fits all therapies,” they write. “Biomarkers can be crucial for predicting subjects most likely to respond [to tailored treatments].”

Biomarkers can include the results of genetic testing, blood work, brain imaging and other medical assessments. In particular, Drs. Sahin and Sur call for research aimed at identifying individual differences in the brain signaling molecules and brain networks that likely produce autism symptoms.

While biomarkers provide the most promising targets for future medicines, in most cases such treatments will be in addition to – not instead of – behavioral therapies, they add.

Going forward, Drs. Sahin and Sur call for a new generation of clinical trials that recruit participants based on common biomarkers and provide interventions that combine pharmacological and behavioral treatments.

“The successful development of new therapies absolutely depends on adoption of the viewpoint put forth by Drs. Sahin and Sur,” agrees Mathew Pletcher, Autism Speaks head of genomic discovery. “Our MSSNG program was created with the goal of providing the data necessary to enable this precision medicine approach for ASD.”

MSSNG is a groundbreaking collaboration between Autism Speaks and Google that is creating the world’s largest genomic database on autism and making it freely available for global research.

Read more about MSSNG here.

Read an abstract of Dr. Sahin and Sur’s paper – "Genes, Circuits, and Precision Therapies for Autism and Related Neurodevelopmental Disorders" – here. (Access to the full article requires a one-time fee or subscription.)

What have scientists learned about autism from brain tissue research, and what do they hope to learn?

Join Autism BrainNet Director David Amaral for “It Takes Brains to Solve Autism,” an hour-long webinar that will include a question-and-answer session.

Date: Wednesday, October 28, 2015

Time: 1 pm Eastern

No prior registration required. Simply log on at www.readytalk.com, enter 2979382 in the "participant join a conference" box and click JOIN.

Send your questions before or during the webinar to tfumberi@simonsfoundation.org.

Can't attend? The webinar will be recorded and posted here.

Autism BrainNet is an initiative of Autism Speaks and the Simons Foundation. Learn more about becoming a donor family at TakesBrains.org.