Today, the researchers of EU-AIMS – the world’s largest multi-center study of potential autism medicines – announced they have forged an agreement with the European Medicines Agency on procedures for selecting study participants and assessing the effectiveness of new treatments.

EU-AIMS stands for European Autism Interventions – A Multicentre Study for Developing New Medications. As a founding member of EU-AIMS, Autism Speaks has contributed expertise to all its work programs, which are dedicated to speeding the development of safe and effective medicines for autism.

The European Medicines Agency is the European equivalent of the U.S. Food and Drug Administration. It is the regulatory agency that must approve any new medicine being brought to market in the European Union. The agency’s support marks a major milestone in planning and launching future clinical trials, the study authors write in a special correspondence published in Nature Reviews Drug Discovery

“We now recognize the enormous diversity among people with autism spectrum conditions,” says Eva Loth, EU-AIMS project science coordinator and deputy lead clinical researcher. “We need to move away from the idea of a one-size-fits all treatment for autism. We believe that it will be more fruitful to develop treatments – medical and non-medical – for different persons with autism depending on their specific needs. To do this, it is vital to have clearly defined biomarkers, or biological measures, to identify subtypes of autism and match them with the treatments most likely to provide benefit.” Dr. Loth pursues research at the Sackler Institute for Translational Neurodevelopment, at King’s College London.

The EU-AIMS Longitudinal European Autism Project (LEAP) is combining genetic testing, neuroimaging, cognitive testing and clinical assessments to identify biological risk markers associated with subtypes of autism. It will enroll some 400 children and adults with autism and 300 children with typical development or mild intellectual impairment in studies across seven European universities. As the largest such study of its kind, it will be the first to provide researchers with the ability to identify autism subgroups that may respond best to different treatments.

At the beginning of the project, the EU-AIMS researchers approached the European Medicines Agency to ensure that the regulators would accept the biomarkers identified in its study. In their Nature correspondence, the LEAP team announce that the agency supported their proposed criteria for the selection of study participants and the types of symptom improvements that should be used to measure benefit and also agreed upon the methods used to identify biomarkers to help distinguish distinct subtypes of autism.

“It's critical for researchers to engage with the drug regulators early on, to figure out exactly what will be required to prove that a treatment is safe and effective for persons with autism,” says Autism Speaks Vice President for Medical Research Paul Wang. “The new publication shows how the EU-AIMS group has succeeded in starting this dialogue, and it represents a key step toward translating autism science into autism treatment.”

Inclusive enrollment
For example, the European Medical Agency supported the inclusion of study participants who have autism complicated by co-occurring conditions such as attention deficit hyperactivity disorder, anxiety and depression. Up to 70 percent of children and adults with autism have one or more mental health conditions, the LEAP researchers note. As such it’s vital to include them in clinical studies.

Similarly, the agency supported plans to include people with autism and intellectual disability. Intellectual disability affects an estimated 55 percent of those with autism. It is especially common among those most severely affected by autism and, so, may be in the greatest need of medical treatment.

Biomarkers to identify subgroups
The regulatory agency also agreed on the importance of further study of LEAP’s proposed biomarkers for autism. These include the results of brain-imaging tests that can track brain activity and connectivity, eye-tracking studies that measure attention to social cues and analysis of biological samples such as blood, saliva and urine. Biological samples are particularly important for identifying genetic risk factors that may contribute to some forms of autism.

“Basic science is now at the brink of being able to identify molecular mechanisms and to translate them into effective therapeutic targets for treatment of individuals with ASD,” the researchers write. “Validation and qualification of ASD biomarkers will be key to giving industry the confidence to carry out the costly, large-scale clinical trials needed to assess the efficiency and mechanism of therapeutic interventions, delineate the patient populations that will benefit from them, and facility the regulatory approval of new therapies.”

“EU-AIMS continues to be a pioneer in the autism field,” says Autism Speaks Chief Science Officer Rob Ring. “The consortium’s LEAP project is helping chart a roadmap for how new treatments can and will be evaluated and approved by regulatory agencies in the future.”

Read more about EU-AIMS here.
Read more about Autism Speaks participation in EU-AIMS, here. 

By Kirsten Klatka, clinical program manager for the Autism Speaks Autism Treatment Network (ATN). In this role, Ms. Klatka helps lead the ATN’s federally funded work as the Autism Intervention Research Network for Physical Health (AIR-P).

This year, the Autism Speaks ATN/AIR-P is partnering with the Anderson Center at Cincinnati Children’s Hospital to build a Learning Network in autism care. A Learning Network enables patients and families, clinicians, researchers and communities to collaborate in quality improvement, innovation, and research to improve care and outcomes for children.

We are currently in the planning stages of our nationwide Autism Learning Network. This stage of the project involves identifying specific aims and measures.

Last December, the Anderson Center team met with AIR-P/ATN leadership, family representatives, and faculty advisors to develop a shared understanding of what a Learning Network in autism care might look like.

This work included identifying goals, understanding ways to measure progress, and focusing on a group of patients with whom to begin this work.

We discussed what  goals families would like to see for their children and what an ideal system of care might look like. The group agreed that the following topics were important:

* Child and family well-being,

* Successful family and community participation,

* Physical health and safety, and

* Meaningful relationships.

We proposed that our first targetgroup will be children, ages 6 to 12, with challenging behaviors that disrupt or interfere with their daily quality of life.

From this pilot group, we will spread our learning network to improve how we address the needs of other patient groups.

The design team is now working to identify ways to measure improvements across each of the patient groups we hope to benefit.

Why are we doing this work?
Our healthcare system often doesn’t meet the  needs of children with autism. This is an especially common situation among families with lower incomes and those in ethnic-minority communities.

Our overall goal for the Autism Learning Network is to improve the health and quality of life for all people with autism. To start, we will focus on increasing the number of children with autism who:

* get regular check-ups from a primary care provider,

* get regular dental care, and

* have regular vision and hearing checks.

We believe that by increasing the number of children with autism who are receiving this important care, we will increase their quality of life and physical health.

What exactly is a Learning Network?
A learning network is a collection of practice teams. Each team includes a doctor, a nurse, 1-2 parents of children with autism, an administrative coordinator (like a receptionist), and a member from the hospital leadership. The entire network collaborates to improve their patients’ health by making positive changes in care delivery.

In order to achieve this goal, the members  regularly review measures toidentify what works well for patients and what needs to be changed to work better. The team tries out different strategies and assesses how well the strategy achieves the desired goal. If it benefits patients in clear ways, the practice team can choose to expand the change to all providers in their practice. They can also share their successful new methods with colleagues outside their practice.

Conversely, if a change doesn’t work, the team can decide to either reject the change revise it.

Learning from other Networks
I have had the opportunity to learn about the experiences and successes of learning networks that have been operating for several years. These networks have accomplished some amazing things through their work together. For example, another Anderson Center-led Learning Network– ImproveCareNow – works to improve the health of children with ulcerative colitis or Crohn’s disease. They have increased the remission rate of these disorders from 55 percent to 75 percent among the network’s pediatric patients.

What are some examples of changes?
To know where changes need to be made, the practice teams collect information from the families and doctors they see at their centers. The teams will look at the data and discuss it regularly to assess whether the small changes they are making are producing clear benefits. For example, one practice team might find that at the start of the project, 95 percent of the children are regularly seeing a primary care doctors, but only half are regularly seeing a dentist. In this scenario, the team may develop and implement one or more strategies to improve the rate of regular dental care. This might include decreasing anxiety around dental visits with a visual-support hand out such as the Autism Speaks Dental Guide. The care team might also identify dentists in the area who regularly see children who have autism. They might offer a behavioral therapy class to help the children and families manage the kind of challenging behaviors that frequently arise for our children during a dentist visit. Similarly they might offer support to local dentists – for instance with the Autism Speaks ATN/AIR-P Dental Professionals Tool Kit.

Introducing a new app for families
We’re particularly excited about the mobile app we are creating to help families share information with their children’s healthcare providers. This app will also help families track improvements and challenges in their child’s health and behavior. For example, if a child is having trouble sleeping, parents might decide to enter information about when he goes to sleep, how many times he wakes in the night and when he gets up in the morning.

Families can then share and discuss the results with their child’s healthcare provider to plan the next step in care.

We are currently working with families, doctors and technology experts to determine what kinds of information we want to collect through the app. We look forward to sharing it widely once we have it up and running.

What’s next?

Similarly – now that we’ve determined our goals for the Autism Learning Network, we are excited to start collecting and analyzing data and trying out small changes. We look forward to sharing what we have learned in the coming months.

Two new studies spotlight the evolving understanding of autism spectrum disorder (ASD) and the factors that potentially affect the risk of ASD. One study assesses prenatal exposure to asthma medication, and the other analyzes prenatal exposure to antidepressants. Both raise more questions for expectant mothers and women planning to have children, specifically if they are being treated for depression or asthma.

Does Using Asthma Medication During Pregnancy Raise the Risk of Autism?

A study, published in the February 2016 edition of the journal Pediatrics, found a modest connection between autism risk and prenatal exposure to certain medications used to treat asthma called beta-agonists. The drugs involved include inhaled medications, such as albuterol, salmeterol (Serevent), and formoterol (Foradil).

Researchers from Drexel University analyzed health records from Denmark's system of national databases to find information on 5,200 children diagnosed with an autism spectrum disorder. The researchers compared them with 52,000 children of the same age without autism. Overall, under 4 percent of children with autism had been exposed to a beta-agonist, versus just under 3 percent of other kids.

Autism Speaks Director of Public Health Michael Rosanoff said, “This is yet another study that hints at the complexity of autism and the sensitivity of child neurodevelopment during pregnancy. Its findings suggest a link between prenatal exposure to drugs used to treat asthma and increased risk of autism in children. However, the increased risk is very modest and certainly does not suggest asthma medication causes ASD.”

Experts caution expectant mothers with asthma not to stop using their medication. Autism Speaks Senior Vice President and Head of Research Dr. Paul Wang said, “All drugs have risks, and those risks have to be weighed against the risks of discontinuing the drugs. Asthma drugs are no exception. Leaving asthma untreated is dangerous for the mother and for her pregnancy.”

Bottom line:

• Risk does not equal cause. The modest findings in this study are not evidence that asthma medications cause ASD.
• Asthma should not go untreated without medical supervision, especially during pregnancy.
• Consult your physician if you have any concerns.

Does Taking Antidepressants During Pregnancy Raise the Risk of Autism?

A second study – this one from Massachusetts General Hospital – found no evidence tying prenatal antidepressant exposure to autism risk. Researchers analyzed medical records data from three Massachusetts health care systems. Researchers noted that any connection between antidepressant use and autism disappeared once researchers accounted for the severity of the mother’s depression. In other words, severity of depression presented a more direct link to ASD than the medication itself.

This new study follows a similar study released in December 2015, which suggested there may be a link between prenatal antidepressant use and autism. From a research standpoint, both studies have limitations. Rosanoff said people need to consider the scope and limitations of both studies, “We emphasized in last month’s analysis that there was a weak, but statistically significant link with little clinical significance to expectant moms. The statistical significance could simply have been due to chance given the nature of the analysis.” Rosanoff added, “The mixed results of the scientific literature on this subject suggest we have more to learn.”

Other factors may play a bigger role in the risk of autism. Dr. Wang said, “Maternal depression, in and of itself, is a risk factor for ASD. Research supports the fact that taking antidepressants actually provides valuable benefits, including the prevention of preterm births. We’ve seen more consistent data that preterm births and low birth weight increase the risk of autism.”

Bottom Line:

• Expectant mothers with depression should consult their physicians before making any changes to their medication.
• Antidepressants can help prevent preterm birth, a stronger variable in the risk of ASD.
• Even with mixed results, increased risk has been small and may be more a factor of severity of depression than exposure to medication.

Where do we go from here?

These studies provide valuable insight, but ultimately point in one direction. Rosanoff tells us, “These findings exemplify the complexity of autism etiology and how there is no single factor that ‘causes’ it.”

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.

On Tuesday January 12, the Interagency Autism Coordinating Committee (IACC) held its first full committee meeting of 2016. The IACC is an advisory committee to the U.S. Department of Health and Human Services. It works across federal agencies to coordinate autism-related research and services in consultation with the autism community.

IACC Chair Bruce Cuthbert, acting director of the National Institute of Mental Health, opened the meeting.

View the full meeting agenda and list of speakers here.

Like all IACC full committee meetings, the day featured a public comment period. A father of a child with autism urged the IACC to support further research exploring autism’s brain-gut connection. (Learn more about related Autism Speaks-funded research here.)

Other parents called for the IAAC to recognize how recent changes to the Medicaid Home & Community Based Services (HCBS) program are creating difficulties for those with autism. In response, the IAAC voted to form a submcommittee to explore issues of access to and choice of housing.

In written public comments read aloud at the meeting, further research on a possible connection between autism and vaccination received mixed support. While some parents urged further research into a possible link, others pleaded that the IAAC to no longer dedicate time to this matter. (Decades of research have found no such link.)

Learn about submitting public comment and/or registering to give live comment at the next IACC meeting here.

Science highlights
Psychologist James McPartland, of the Yale Child Study Center, updated the committee on Yale’s Autism Biomarkers Consortium for Clinical Trials. While autism is currently diagnosed using information gathered from clinical assessments and parent reports, the goal of ABC-CT is to improve early diagnosis of autism by identifying objective biological signatures, or biomarkers, of autism present before behavioral symptoms appear. This is being done using data from brain imaging, attention-tracking, genetics and other approaches. The goal of earlier identification is earlier intervention that can improve outcomes.

Read more about the ABC-CT study here.

Others researchers in attendance echoed the importance of developing objective measures of autism for earlier detection and intervention. Neuroscientist Karen Pierce, of the University of California, San Diego, described how her lab has used functional brain imaging to distinguish infants who later developed communicative impairments from those who did not. She and other researchers expressed optimism that interventions for those severely impaired by autism will be far more effective if these children can be identified and helped earlier in life.

Screening controversy
Another highlight of the meeting was an intense discussion of last year’s US Preventive Services Task Force (USPSTF) “inconclusive” finding on the effectiveness of universal autism screening at 18-month and 24-month well child visits. The American Academy of Pediatrics and autism advocacy groups including Autism Speaks have long urged such universal screening.

In a panel discussion, USPSTF Chair David Goodman joined four autism specialists, including pediatrician Daniel Coury, medical director of the Autism Speaks Autism Treatment Network. Goodman presented how the USPSTF reviews the evidence to develop its recommendations, and why at this time the draft recommendation is that there is insufficient information to recommend universal screening. He emphasized that the “I” rating was not meant to discourage screening, but rather to spur further research on its effectiveness and possible ways to improve screening.

Still, the panel discussion made clear that great concern remains that physicians and health insurers will misinterpret the “I” recommendation as meaning autism screening as optional and of questionable benefit.

“The IACC members were very attentive to the presentations and have a good grasp of the significance of this issue,” Dr. Coury commented.  “I feel their input on funding for studies to answer the questions raised by USPSTF will be positive and that more research in this area will be supported.”

View the archived video cast of the full IACC meeting here.

Reported by Autism Speaks advocacy intern Charles Lynch. Lynch is a doctoral student in cognitive neuroscience at Georgetown University. 

In his “State of the State” address this week, Missouri Governor Jay Nixon will propose a $5 million contribution to the University of Missouri’s Thompson Center for Autism and Neurodevelopmental Disorders.

"Here in Missouri, we believe that all children – including those with autism – deserve the opportunity to live up to their God-given potential," Nixon said Friday at the center, which is one of 14 sites in the Autism Speaks Autism Treatment Network.

“This funding would go far in expanding much needed autism services in Missouri,” comments Donna Murray, who oversees the ATN, as Autism Speaks’ vice president and head of clinical programs. “The Thompson Center ATN is a recognized leader in the diagnosis and treatment of autism, as well as in innovative training methods to broaden services for children with autism in underserved regions of the state.” 

The funding, part of Nixon’s fiscal year 2017 budget, would allow the Thompson Center to train an additional 100 autism specialists and allow an estimated 2,000 more clinic visits a year over the next five years. During fiscal 2015, the center served an estimated 2,800 children with autism over 9,400 visits, The Missourian reports. Read the full story here.

* 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.

A new report describes unusually low levels of vitamin B12 in the brains of people affected by autism or schizophrenia. The study also found that levels of the vitamin decrease with age regardless of whether a person has a neurological condition.

The open-access paper appears today in the journal PLOS One.

The researchers speculate that the abnormally low B12 levels seen in brains affected by autism or schizophrenia might result from oxidative stress – a harmful inflammatory condition. Previous studies have documented signs of oxidative stress in the brains of some people affected by either condition.

"The large deficits of brain B12 from individuals with autism and schizophrenia could help explain why patients suffering from these disorders experience neurological and neuropsychiatric symptoms," says study leader Richard Deth, of Nova Southeastern University, in Fort Lauderdale, Florida. "These are particularly significant findings because the differences we found in brain B12 with aging, autism and schizophrenia are not seen in the blood, which is where B12 levels are usually measured."

Deth and his co-authors call for additional research to explore whether the use of supplemental methyl B12 and antioxidants could help prevent oxidative stress and ease symptoms of these conditions.

Research made possible by postmortem brain donations
The study involved analysis of tissue from 64 postmortem brain donations. These included donations made to Autism BrainNet, an initiative supported by Autism Speaks and the Simons Foundation for Autism Research.

The researchers found that, overall, levels of B12 in the brain tissue from children with autism were three times lower than the levels in brain tissue from children unaffected by the condition. In fact, the average B12 brain levels for the children with autism was close to that of brain tissue from unaffected adults in their 50s. This pattern of lower-than-typical B12 levels persisted across the lifespan in the brain tissue from donors affected by either autism or schizophrenia. 

B12 and brain development
An active form of B12 called methylcobalamin, or methyl B12, supports healthy brain development through a process known as epigenetic regulation of gene expression, Deth says. (For more on epigenetics and brain development, see “What is epigenetics, and what does it have to do with autism?”) Lowered levels of methyl B12 in the brain could adversely affect early brain development and could disrupt learning and memory later in life, he proposes.

Read the full article –"Decreased brain levels of vitamin B12 in aging, autism and schizophrenia" – here. The study received financial support from the Autism Research Institute.

Learn more about the importance of postmortem brain donation for autism research – and learn how you and your family can participate – at autismbrainnet.com and takesbrains.org.

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

The first scientific estimate of autism’s prevalence in Mexico pegs the number at 1 in 115. While the number may be an underestimate, it provides a solid foundation for government leaders and agencies that have expressed eagerness to understand and meet their nation’s need for autism services.

Funded by Autism Speaks, the study appears this week in the Journal of Autism and Developmental Disorders.

At just under 1 percent, the estimate is roughly in line with the “1 in 100” figure for Hispanic children diagnosed with autism in the United States. Autism’s overall prevalence in the United States is an estimated 1 in 68. Experts generally agree that the lower Hispanic number reflects a lower rate of identifying autism – not a true lower prevalence. The same may be true of the new estimate for Mexico.

Establishing a clear picture of need
Most importantly, the researchers say, the study results give Mexican public health agencies their first clear picture of the need for autism services in their country.

“These results tell us that there are around 400,000 children and adolescents in Mexico who are affected by autism and in need of services,” says lead researcher Eric Fombonne, of Oregon Health & Science University.

“Of particular concern is that Mexican children with autism are being diagnosed at a very late age – indicating lost opportunities for early interventions and increased burden on families,” Dr. Fombonne adds. In the study, nearly 78 percent of the children with autism did not receive their diagnosis until age 3. Another 22 percent went undiagnosed until age 5.

Autism can be reliably diagnosed as early as ages 18 to 24 months, though even in the U.S. the average age of diagnosis remains closer to 4 years of age.

A model for other nations

“This study not only provides a much-needed platform for autism advocacy and policy planning in Mexico, it also serves as a model for much needed autism prevalence research across the Americas.,” says Michael Rosanoff, Autism Speaks director of public health research.

Through its Global Autism Public Health (GAPH) initiative, Autism Speaks has forged partnerships with 70 countries to help them create systems of care and support based on culturally sensitive and economically viable methods. This includes Mexico and 11 countries in Central and South America.

Study methods
To make their estimate, the researchers focused on Leon, a city of nearly 1.6 million people in central Mexico, with demographics similar to the country as a whole.

The study combined two methods for identifying children with autism.

First, they looked for established autism diagnoses in the service records of 8 year olds attending special education programs. This is similar to the methods used by the U.S. Centers for Disease Control and Prevention (CDC) to estimate autism’s prevalence in the United States.

Second, they used the direct survey method pilot tested by an Autism Speaks-funded study in South Korea in 2011. This involved conducting in-person autism screenings of students in general classrooms (with parent permission), followed by a full evaluation for autism. These school children had gone undiagnosed before the study screenings.

Most of the children that the study identified as having autism (57.5 percent) were among the previously undiagnosed students in general classrooms. The other 42.5 percent were among those in special education programs.

Just over 30 percent of the children identified as having autism also had intellectual disability. This is generally in line with rates in the United States and elsewhere. The study also found the 4-to-1 boy to girl ratio that’s been seen in virtually all prevalence studies to date.

Autism Speaks will continue to offer its guidance and support to Mexican public health agencies and Mexican autism-advocacy groups as they work to develop and expand services to meet the need of individuals and families affected by autism in their nation.

Learn more about Autism Speaks Global Public Health initiative here.

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

Autism Speaks, Grand Challenges Canada and Pakistan’s Human Development Research Foundation are partnering on a major rollout of an innovative program for families of children with autism and intellectual disabilities.

The program integrates two components: first, the Parent Skills Training program, developed by Autism Speaks and pilot tested with the World Health Organization; and second, the Family Networks for Kids innovation, piloted by the Human Development Research Foundation with the support of Grand Challenges Canada.

The Parent Skills Training program empowers parents and other caregivers to work with children who have autism in practical, culturally sensitive ways using strategies that research has shown to be effective.

Read more about the Autism Speaks/WHO Parent Skills Training program here.

Developmental disorders including autism and intellectual disabilities affect an estimated 13.2 million Pakistani children – almost all of them untreated due to poor awareness, stigma and lack of specialist services outside urban areas. The new project will deliver and test the effectiveness of Parent Skills Training across a rural area of Pakistan that is home to more than a million people.

“It is so exciting to see this vision – for a new system of evidence-based care delivered by nonspecialists – becoming a reality,” says Andy Shih, Autism Speaks senior vice president for scientific affairs.

“Most importantly, we want to learn two things from this ambitious project,” Dr. Shih adds. “How well does our current Parent Skills Training program work when you scale up to a population level and how can we integrate a program such as this into a country’s existing systems of health, education and social protection.”

Through its Global Autism Public Health Initiative (GAPH), Autism Speaks has a special interest in developing affordable, evidence-based autism screening methods and interventions for children in countries where most families lack access to professional services.

Chief among these is the Parent Skills Training program. Through the program, WHO and Autism Speaks staff and researchers have begun training highly motivated parents, educators and community health workers to serve as Master Trainers in countries and communities that lack access to professional autism specialists and therapists. The Master Trainers, in turn, train community members – including other parents and teachers – who in turn teach still more families and caregivers how to work with children who have autism.

Autism Speaks and the WHO pilot tested the Parent Skills Training program in China last year and has trainings in the planning in other world regions.

See “Autism Speaks and WHO take Parent Skills Training to China.”

The Pakistani project is the first large-scale deployment of Parent Skills Training. It will include a rigorous study to evaluate the approach’s effectiveness on this large scale.

Working with local partners
The project will build on the Family Networks for Kids (FaNs) program created by Pakistan’s Human Development Research Foundation.

Funded by Grand Challenges Canada, FaNs is designed to guide parents in recognizing and helping children cope with mental health issues. Grand Challenges Canada, which is funded by the Government of Canada, is dedicated to supporting bold ideas with big impact in global health.

In each Family Network, family volunteers called “champions” learn to help both with their own children and neighboring families whose children need such services.

As part of the new partnership with Autism Speaks and Grand Challenges Canada, FaNs will start screening 27,000 families for autism and intellectual disabilities. They will do so using wireless phone connections to an Interactive Voice Response system. The system prompts parents through a screening questionnaire. This reduces the need for rural families to travel to distant medical centers or wait for health workers to visit to their villages for screening.

Importantly, the new funding will also allow the foundation to train 300 of its champions to deliver the Autism Speaks/WHO Parent Skills Training to local parents, teachers and other caregivers. The training will employ electronic tablets loaded with interactive learning modules that include story-telling characters.

The goal is to provide these services to at least 3,000 children and teens.

Read more about the FaNs program and its results here.

Evaluating effectiveness
To evaluate the effectiveness of the program, researchers will compare daily function and behavior of children whose parents receive the training with that of a control group of children whose parents are wait-listed to receive it after the study period.

“In many ways, this is no different than developing a medicine,” Dr. Shih says. “We need to see how Parent Skills Training works in real-life communities on a large scale. Only then can we see if we need to further refine our methods to maximize their benefits to children and families.”

World Vision Pakistan and Pakistan’s Federal Ministry of National Health Services have pledged to provide additional support for the project. The Pakistani government has also expressed interest in assessing the program for wider adoption across Pakistan.

Learn more about Autism Speaks Global Autism Public Health initiative here.

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

As Autism Speaks moves forward into the new year with great ambition, its science staff and Scientific Advisory Board reviewed the many important research reports of the past year to identify the ten that most powerfully advanced our understanding and treatment of autism. Several of these studies opened up new avenues of research and/or demonstrated new opportunities to directly improve the lives of those affected by the disorder.

“We are excited to see progress being made across the broad scope of autism science, from genomics to international health,” says Paul Wang, Autism Speaks senior vice president and head of medical research. “Not only are we uncovering the causes of autism, we're also making progress in its treatment. We will be working hard this year to continue pushing forward on all these fronts, to make sure that their potential benefits to families are fulfilled as quickly as possible.”

For each of the selected scientific papers, Dr. Wang asked a member of the Autism Speaks science staff or Scientific Advisory Board to provide perspective on why it was so important in advancing the field of autism research.

Advances and insights from autism genomics

1 Whole-genome sequencing of quartet families with autism spectrum disorder.Yuen RK, Thiruvahindrapuram B, Merico D, et al. Nat Med. 2015 Feb;21(2):185-91.

2 Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I, Levy D, Allen J, et al. Proc Natl Acad Sci 2015 Oct 13;112(41):E5600-7.

3 Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Sanders SJ, He X, Willsey AJ, et al. Neuron. 2015 Sep 23;87(6):1215-33

"The year 2015 unveiled several important genetic and genomic studies using new analysis approaches to deepen our dissection of the complexities of autism’s genetic factors. The three studies we cite here yielded unprecedented information and insights that further refine our understanding of the genes and their role in the development of autism spectrum disorder. These studies are the beginnings of a new era of whole genome analysis that will allow a clearer picture of both the smallest genetic changes and the larger structural chromosome changes that we must decipher in our search to better understand the many subtypes of autism and their precision treatments."
– Stephen Scherer, Autism Speaks Scientific Advisory Board member and director of Autism Speaks’ MSSNG program. Dr. Scherer directs the McLaughlin Centre at the University of Toronto and the Centre for Applied Genomics at Toronto’s Hospital for Sick Children.

For more on these genetics and genomics studies, also see:
“Largest-ever autism genome study finds most siblings have different autism-risk genes”
and
“Study finds half of all autism cases trace to rare gene-disabling mutations.”

Breakthroughs in effective parent-led interventions

4 Parent-mediated intervention versus no intervention for infants at high risk of autism: a parallel, single-blind, randomised trial. Green J, Charman T, Pickles A, et al. LancetPsychiatry, 2015, 2(2):133–40.

5Effect of parent training vs. parent education on behavioral problems in children with autism spectrum disorder:  A randomized clinical trial. Bearss K, Johnson C, Smith T, Lecavalier L, et al. JAMA 2015; 313:1524-1533.

“These two studies illustrate how far we’ve come in intervention science.  Both studies were performed with the most rigorous scientific designs and recognize the important role of parents. They also represent a number of firsts, including the first randomized trial for infants at risk for autism spectrum disorder and the first large, comparative efficacy study of behavioral challenges in young children with ASD.”
– Connie Kasari, Autism Speaks Scientific Advisory Board member. Dr. Kasari leads several research programs, including the federally funded Autism Intervention Research Network for Behavioral Health, at the University of California Los Angeles.

To learn more about advances in parent-led interventions, also see
“Training Helps Parents Reduce Challenging Autism Behaviors.”

6  Effectiveness of the parent-mediated intervention for children with autism spectrum disorder in south Asia in India and Pakistan (PASS): a randomised controlled trial. Rahman A, Divan G, Hamdani SU, et al. Lancet Psychiatry. 2015 Dec 15. [Epub ahead of print]

“More than 85 percent of individuals and families affected by autism live in low and middle income countries where a pervasive lack of expertise and services presents a barrier to better care and outcome. This groundbreaking study shows that it’s now possible to meet this fundamental challenge by empowering parents and other caregivers with the skills to better meet their children's developmental needs and, so, enhance child outcome and family wellbeing. Lessons from PASS and other model parent-mediated intervention are informing the development of community-based solutions like the WHO-Autism Speaks Parent Skills Training program. We have good reason to celebrate the promise of greater access to evidence-based care around the world in the near future.”

– Andy Shih, Autism Speaks senior vice president for scientific affairs. Dr. Shih leads Autism Speaks’ Global Autism Public Health initiative.

To learn more about this study, also see
“India and Pakistan set to benefit from parent-led autism therapy.”
 

Aging and autism-related health issues in adulthood

7Premature mortality in autism spectrum disorder. Hirvikoski T, Mittendorfer-Rutz E, Boman M, et al. Br J Psychiatry. 2015 Nov 5. [Epub ahead of print]

8 High rates of parkinsonism in adults with autism. Starkstein S, Gellar S, Parlier M, et al. J of Neurodev Disord. 2015; 7:29.

“We already know that adults with autism spectrum disorder have a huge need for supports in education, housing and employment. These two reports showed us that we likewise need to understand the medical issues that adults with ASD confront. In addition to regular medical care, our adult community needs special attention to potential autism-related complications such as Parkinson's, and psychiatric issues including anxiety and depression. We’re also seeing the need for improved monitoring of general medical issues given the overall increase in mortality that research has revealed.

These studies emphasize what Autism Speaks has long advocated: Our adult community needs more resources and more specialized services. Our models include the Center for Autism Services and Transition at Ohio State University’s Wexner Medical Center. Thanks to federal funding from the Health Resources and Services Administration, our Autism Treatment Network sites are engaged in research on issues with huge implications for adult health – including dental care, which we now know affects metabolic health (diabetes) and cardiovascular health (strokes, heart attacks) in adulthood.”
– Paul Wang, Autism Speaks senior vice president and head of medical research

To learn more about this important work, also see
“Study finds high rate of Parkinson's disease among adults with autism,”

“Ohio State University Opens New Transition Program”
and
“Transitioning teens with autism to adult care.”

Lessons in how autism influences learning

9Perceptual learning in autism: over-specificity and possible remedies. Harris H, Israeli D, Minshew N, et al. Nat Neurosci. 2015 Nov;18(11):1574-6.

“This study provided important information on how ‘drilling,’ or learning through repetition, may lead to difficulties in learning new information or patterns – at least for some people affected by autism. In essence, the researchers found that, among study participants affected by autism, repetition in learning tended to lead to inflexibility and hamper their ability to generalize a skill to new situations. The main point of the article, I believe, is that it’s important for teachers and parents to notice whether or not learning through repetition is interfering with skill acquisition and generalization.  

At the same time, the study was limited to tasks presented on a computer screen and the participants with autism were high functioning adults without intellectual disability. We know from clinical experience that repetition of tasks for some skills can be beneficial for some children and adults with autism – for example in learning daily living skills and stepwise instructions such as putting on underwear before pants. We need more research in this area – especially with younger children with different levels of ability.”
– Kara Reagon, Autism Speaks associate director of dissemination science

For more about this study see
“Study suggests too much repetition can hinder learning in those with autism.”

Discovery of unsuspected brain-immune system connection

10Structural and functional features of central nervous system lymphatic vessels.
Louveau A, Smirnov I, Keyes TJ, et al. Nature 523, 337–341 (16 July 2015)

"This is a seminal study because it further reveals the machinery that connects the immune system and the nervous system. Crosstalk between those systems may go awry in autism, and we are now more empowered than ever to understand how and why."
– Daniel Smith, Autism Speaks vice president for innovative technology

For more on this report, see

Discovery of brain-immune link could advance understanding of autism

Researchers have prevented mouse pups from developing the autism-like behaviors that commonly appear after simulating an infection in pregnant female mice. They did so by blocking an inflammation-producing immune signal – interleukin-17a (IL-17a).

The report appears today in the journal Science.

A growing body of research – much of it with animals – has suggested that inflammation during pregnancy can affect early brain development in ways that predispose to autism. Inflammation is commonly associated with infections. But it can also result from inflammatory conditions such as diabetes.

The new study still represents a very early stage in research on inflammation during pregnancy and autism. But it goes a step further than past studies to hint at a possible way to protect healthy prenatal brain development in the presence of inflammation.

 “This is an elegant study that continues to drive home the message that the immune system plays an important role in the development of symptoms linked to autism,” comments Dan Smith, Autism Speaks vice president for innovative technology. “It adds to an existing body of genetic and biochemical evidence suggesting that specific immune system components change the developing brain in ways that may cause behavioral changes.”

The study was led by researchers at New York University Langone Medical Center, Massachusetts Institute of Technology, University of Massachusetts Medical School and University of Colorado-Boulder. 

In the first part of their study, the authors demonstrated that immune responses similar to those triggered by viral infections in pregnant mice changed the brain development of their pups and caused behaviors resembling autism symptoms. These included social avoidance, abnormal communication and repetitive behaviors.

Their further analysis suggested the involvement of immune cells producing the inflammatory chemical IL-17a.

They then showed that blocking the production and action of IL-17a in the womb (using antibodies) prevented both abnormal brain development and autism-like behaviors in the mouse pups.

“To our knowledge, this is the first study to identify a specific population of immune cells that may have a direct role in causing behaviors linked to autism,” says immunologist and co-author Dan Littman, of NYU Langone. “With these study results, Th17 cells, as well as specific proteins they produce, become candidate therapeutic targets.” Littman notes that the immune reactions in the study are caused by viral infections in the mother and have “nothing whatsoever to do with vaccines.”

“We don't yet know just how relevant this mouse model is to people,” cautions developmental pediatrician Paul Wang, Autism Speaks senior vice president and head of medical research, “as autism has many different causes. At the same time, this study shows that researchers are not just asking what causes autism. They’re also asking whether those causes can be modified, or even blocked, giving us hope that the most damaging effects of autism might be ameliorated.”

The study was co-funded by the Simons Foundation Autism Research Initiative, the National Research Foundation of Korea, the Smith Family Foundation, Alzheimer’s Association, National Institutes of Health and the Howard Hughes Medical Institute.

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

In today’s Pediatrics, researchers at Johns Hopkins Bloomberg School of Public Health report that they found a three- to four-fold higher rate of autism among children born to women who were both diabetic and obese during pregnancy.

The findings raise many questions and concerns. To provide perspective, we talked with epidemiologist Michael Rosanoff and developmental pediatrician Paul Wang. Dr. Wang is Autism Speaks’ senior vice president for medical research. Mr. Rosanoff is Autism Speaks’ director for public health research.

Q: Too often, this type of finding is taken as implying parents are somehow to blame for their children’s autism. Why would you urge against such an interpretation?

Michael Rosanoff: Autism is a complex condition caused by a combination of environmental and genetic factors. By environmental, researchers mean a broad range of nongenetic influences including maternal health and conditions in the womb. No one environmental factor causes autism by itself. So when we say an environmental factor increases the risk of autism, we are not saying that it causes autism. In other words, not all moms who are both diabetic and obese will have a child with autism. In fact, the vast majority will not.

Paul Wang: We welcome research that helps us identify some of the factors that increase the risk that autism will develop. But as Michael suggests, the vast majority of children exposed to these risk factors do not develop autism. Except in rare cases, it's not possible to say exactly why a particular child has the condition. Parents certainly shouldn’t blame themselves when the scientific understanding is so nebulous – and when so many of autism’s risk factors are beyond their control.  

Q:The researchers found a significant increase in autism risk only when diabetes and obesity occurred together during pregnancy. Does this answer some questions raised by previous research looking at obesity or diabetes separately?

MR: The children of moms who were either obese or had diabetes did not have a significantly increased rate of autism in this study. This counters some previous research that had shown a slight increased risk of autism among children of mothers who were either obese or diabetic during pregnancy.

The significant risk, according to this study, was when obesity and diabetes coincided during pregnancy. Moms who were obese and had diabetes going into pregnancy – that is, they had preexisting diabetes – were four times more likely to have a child with autism than were moms who had neither condition. Obese moms who developed diabetes during pregnancy – what we call gestational diabetes – were three times more likely to have a child with autism.

But because research methods differ between studies, we can’t directly compare these findings to those of previous studies. Scientific research requires retesting and replication. When results are replicated enough, it increases our confidence that the results are correct. In this case, we see growing evidence that obesity and/or diabetes during pregnancy may increase risk for autism. But how high of an increased risk and exactly what causes the increased risk remains unclear.

Q:The researchers suggest that their findings implicate inflammation during pregnancy as increasing autism risk. Why would that be and is it important?

PW: While several studies now implicate obesity and diabetes as risk factors, we still don't know exactly how these conditions might end up contributing to autism. Two possibilities that the authors mention are inflammation and oxidative stress– both of which can affect early brain development.

What’s more, the suggestion that diabetes during pregnancy causes brain inflammation is from studies with animals. It's not definitively known if diabetes in a pregnant woman causes inflammation in her fetus’s developing brain. At the same time, we do know that other inflammatory conditions in pregnancy – such as an infections serious enough to require the mother’s hospitalization – are associated with increased risk for autism.

Q:What should prospective parents take away from these findings?

PW: These findings further support what we know well: that healthy pregnancies are important for healthy fetal and child development. We also know that attention to good health should start before pregnancy, with optimal nutrition and vaccination against diseases like influenza or rubella that can greatly increase the risk of autism if they occur during pregnancy.

Nutritional and weight management during pregnancy are certainly important. We also need further research to understand whether and how we can better support a woman’s pregnancy when conditions such as gestational diabetes or maternal infections arise.

MR: I echo Paul in emphasizing that these findings underscore the importance of optimizing a woman’s health during pregnancy. A healthy pregnancy is vital to healthy brain development and this goes far beyond the development of autism.

What is becoming increasingly clear is that the developing fetus may be particularly sensitive to a number of environmental factors during pregnancy – including maternal obesity and diabetes that may increase the risk of autism. It bears repeating: No one of these factors cause autism in and of itself.

Q: Finally, it’s very understandable for parents – especially parents who already have a child on the spectrum – to feel whipsawed by all the risk studies coming out. Why is this type of research important and what should we be taking from it without driving ourselves crazy?

PW: Science is a process, and sometimes it seems very slow and painstaking. But this is also the strength of science – researchers are constantly double-checking the findings of other researchers. They also build on previous research to improve experiments and design new experiments that address the fresh questions that arise during research. It takes decades to make progress against any complex condition or disorder. And autism certainly ranks among the most complex! With continued support for research, we will continue making progress on autism’s causes and treatments.

CBS News interviewed Dr. Wang for its coverage of the Pediatrics report. View the news segment below.

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

Today, the journal Pediatrics published a special supplement on medical, mental health and behavioral issues commonly associated with autism. The issue provides important autism-specific practice guidelines for the nation’s pediatricians.

Like the journal’s first autism supplement – published in 2012– the work was conducted primarily through the Autism Speaks Autism Treatment Network (ATN) serving as the federally funded Autism Intervention Research Network on Physical Health (AIR-P).*

The new and much-expanded supplement includes treatment recommendations for such autism-associated health issues as

* anxiety,

* depression,

* disturbed sleep and

* severe irritability and problem behaviors.

It also includes much-needed guidance on

* the special needs of adopted children who have autism,

* transition plans for teenagers with autism as they move from pediatric to adult healthcare systems,

* autism-tailored hospital care plans and

* autism-sensitive emergency room procedures.

“The supplement brings together in one place a rich and diverse compilation of clinical research and practice improvement related to the care of children and youth with autism and related neurodevelopmental disorders,” write Drs. Lonnie Zwaigenbaum and Marji Erickson Warfield in the special issue’s introduction. Dr. Zwaigenbaum co-directs the Autism Speaks ATN center at the University of Alberta and Glenrose Rehabilitation Hospital, in Edmonton. Dr. Warfield directs the Starr Center on Intellectual and Developmental Disabilities at Brandeis University, in Waltham, Mass.

Much of the research behind the reports was made possible by the ATN Patient Registry – which in turn is made possible by the voluntary participation of families receiving care at one of the 14 ATN centers across the U.S. and Canada.

Below is the supplement’s full table of contents. Readers can access links to summaries of the articles on the Pediatrics website here.

* The work of the ATN/AIR-P is carried out at the Autism Treatment Network’s 14 autism specialty clinics across the United States and Canada under the guidance of the Network Clinical Coordinating Center at Massachusetts General Hospital for Children, in Boston. The ATN’s role as the AIR-P is funded by the Health Resources and Services Administration of the U.S. Department of Health and Human Service.

* Learn more about the Autism Speaks Autism Treatment Network here.

* Learn more about its role as the federally funded AIR-P

here.

* Find the ATN center nearest you 

here.
 

In a small but carefully conducted study, researchers have shown that one dose of a commonly used blood-pressure medicine temporarily improves conversational skills in adults with autism.

The report appears in the journal Psychopharmacology. It was done at the University of Missouri’s Thompson Center for Autism and Neurodevelopmental Disorders. The Thompson Center is one of 14 sites in the Autism Speaks Autism Treatment Network.

The medicine tested in the study – the beta-blocker propranolol – has long been used by public speakers, musicians and others to ease performance anxiety and related shakiness.

"Propranolol was first reported to improve the language and sociability skills of individuals with autism in 1987,” says senior author and neurologist David Beversdorf. But the effect was never verified with a controlled trial comparing propranolol with a placebo, or dummy pill, he adds.

The new study showed that a single dose of propranolol improves “conversational reciprocity,” or the back and forth flow of conversation.

The study included 20 teens and young adults with autism (19 males and 1 female). Each took either a 40-milligram dose of propranolol or a placebo pill. An hour after administration, the researchers had a structured conversation with the participants, scoring their performance on six social skills necessary to maintain a conversation: staying on topic, sharing information, reciprocity or shared conversation, transitions or interruptions, nonverbal communication and maintaining eye contact. The researchers found the total communication scores were significantly greater when the individual took propranolol compared to the placebo.

"Though more research is needed to study its effects after more than one dose, these preliminary results show a potential benefit of propranolol to improve the conversational and nonverbal skills of individuals with autism," Dr. Beversdorf says. "Next, we hope to study the drug in a large clinical trial to establish the effects of regular doses and determine who would most likely benefit from this medication." As part of further research, researchers will need to assess the safety of long-term use in people who don’t have high blood pressure.

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

A new study suggests that a third (33 percent) of school-age children with autism wander, or bolt, from adult supervision in any given year.

The researchers also looked at wandering in a broader group of schoolchildren with autism or intellectual disability or developmental delay. Just over a quarter (26 percent) of this larger group had strayed from safety in the previous 12 months.

Published in the open-access journal PLOS ONE, the study is the first to estimate the prevalence of wandering in a nationwide sample of school-age children with developmental disabilities.

“As the prevalence of autism spectrum disorders in the United States continues to rise, there is a need to better understand the behaviors that may compromise the safety and well-being of these children,” says lead researcher Bridget Kiely, of the Cohen Children’s Medical Center of New York.

“Not only does [wandering] pose a significant risk to the safety and well-being of children with developmental disabilities,” adds senior researcher Andrew Adesman, “but fear of wandering can be a daily source of stress and anxiety for parents of affected children.” Dr. Adesman is chief of developmental pediatrics at Cohen Children’s Medical Center.

Supporting concerns raised by autism community
The new report bolsters the concerns raised by a 2012 survey of families with children affected by autism. That earlier study – by the Interactive Autism Network (IAN) – found that nearly half of children with autism had wandered from safety at some point in their young lives.

Importantly, the IAN researchers found that autism-related wandering did not stem from inattentive parenting – as wandering in these families was rare among siblings not affected by autism.

“These findings underscore how important it is to give families and caregivers greater access to tools and resources that will help them develop a comprehensive safety plan to prevent wandering,” comments Autism Speaks’ Lindsay Naeder. Naeder directs the organization’s Family Services Autism Response Team. In the last year, Naeder and her colleagues have partnered with the National Center for Missing and Exploited Children and Project Lifesaver International to provide safety training and resources to more than 10,000 people with autism and their families and more than 11,000 first responders.

Diving into the CDC’s Pathways Survey
In the new study, the researchers analyzed information from the Centers for Disease Control and Prevention’s Pathways Survey. It includes nationwide information from parents and guardians of more than 4,000 children with special health-care needs, ages 6 to 17.

The researchers compared wandering information on:

* Children affected by just autism,

* Children affected by both autism and intellectual disability or developmental delay, and

* Children who had intellectual disability and/or developmental delay but not autism.

They found the highest rates of wandering among the children with autism – regardless of whether they had associated intellectual disability or developmental delays. A third of the children with autism (33 percent) had wandered within the last 12 months.

By comparison, just over a fifth (22 percent) of the children affected by intellectual disability or developmental delay – but not autism – had wandered in the last year.

Across all the groups, parents reported that wandering children tended to lack awareness of dangers, to have difficulty distinguishing strangers from people they knew, and to panic when encountering unfamiliar situations or changes in their routines.

“A multi-faceted approach to wandering prevention and response is best to prevent wandering,” Autism Speaks’ Naeder emphasizes. “This needs to include both families and local first responders working together on an ongoing basis.”

To learn more about Autism Speaks’ wandering-related safety initiatives, also see:
* Preventing Wandering: Resources for Parents and First Responders
* Autism Speaks awards grant to Project Lifesaver
* Autism Speaks and NCMEC provide autism safety training to the NYPD

For more on the Pathway Survey as a resource for the autism community, see
“Autism Speaks & Child Health Data Resource Center launch public portal.”

The Escher Fund for Autism, Autism Speaks and the Autism Science Foundation are pleased to invite the autism community, researchers and the general public to their second online symposia on the environmental epigenetics of autism:

“Environmental exposures and the germline:
Investigating causes of epigenomic and genomic errors”

The free online webinar will take place from 1 to 3 pm Eastern, March 3, 2016, with time allotted for questions.

Register here.

“Many questions remain about the interaction of genetics and environmental factors in predisposing individuals for autism,” says Mathew Pletcher, Autism Speaks’ vice president of genomic discovery. “We established these symposia as a means for the thought leaders in environmental epigenetics to come together, share their learnings and build a research community that can collaboratively advance this field… 

“We also wanted to provide the general autism community with a window into recent findings,” Pletcher adds, “while giving them the opportunity to pose questions directly to those conducting this critical work.”

Speaker Dana Dolinoy, of the University of Michigan’s School of Public Health, will discuss inheritable epigenetic effects from toxic exposures. Dr. Dolinoy and leads the school’s Environmental Epigenetics and Nutrition Laboratory. Her team is investigating how nutritional and environmental factors interact with epigenetic gene regulate to shape health and disease.

Speaker Carol Yauk, of Health Canada and Ottawa’s Carleton University, leads research on “toxico-genomics,” which explores how toxic exposures affect the genome (a person’s complete set of genetic material). Her research team’s goal is to develop genomic testing as a faster, less expensive and more accurate way to determine the toxicity of common chemicals.

To register for the environmental epigenetics symposium, click here.

The National Institute of Mental Health and its Office of Autism Research Coordination is sponsoring a free public webcast of a day-long scientific workshop titled

“Loss of Skills and Onset Patterns in Neurodevelopmental Disorders: Understanding the Neurobiological Mechanisms”

The workshop will take place Friday, Feb. 19, 2016, from 9 am to 5 pm Eastern at the National Institute of Mental Health, in Bethesda, Maryland.

Leading researchers will discuss the latest findings on the brain mechanisms associated with developmental regression and the onset of symptoms in autism and related disorders. Of particular focus will be research that provides insights into what causes the loss of previously attained developmental and cognitive skills. The workshop’s goal is to guide future efforts to develop prevention and treatment strategies.

The day-long workshop will be available for viewing on the National Institutes of Health video-cast page here.
Alternately, audio will be available at 800-369-2126, with access code 2193178.

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

New York, N.Y. (Feb. 16, 2016) Autism starts very early in brain development, and its symptoms can be detected by age 2.  We have a broad consensus, based on research, that early intervention for autism results in better outcomes.Yet to our great disappointment – and against expert counsel – the US Preventive Services Task Force has refused to recommend universal autism screening. Unfortunately, the USPSTF statement risks misleading families – and health insurers – on the value of autism screening for all children.

Universal early screening is highly effective in identifying children who have autism, and early intervention is critical to ensure optimal outcomes for children with autism. 

Autism Speaks – together with the Autism Science Foundation – continues to wholly endorse the Bright Futures guidelines of the American Academy of Pediatrics, which call for continuous developmental surveillance and for specific autism screening at 18 months, 24 months and whenever a parent or provider expresses concern.

Also see: "Keeping the 'Grade A' in universal screening for autism," by Autism Speaks Head of Medical Research Paul Wang. 

“Screen Your Child,” on the Autism Speaks website, is a free interactive version of the M-CHAT autism screen for toddlers, one of the screening tools recommended by the American Academy of Pediatrics.

Fox 5 News interviewed Autism Speaks Director of Public Health Research Michael Rosanoff about the task force's controversial decision and why leading pediatric and autism research groups oppose it. 

A new study confirms that autism-related sleep disturbances go hand in hand with daytime behavioral problems. The finding underscores the need for doctors, therapists and caregivers to look for and address sleep issues among kids with autism spectrum disorder (ASD).

The study appears in the Journal of Autism and Developmental Disorders. It was supported by Autism Speaks and conducted through the Autism Speaks Autism Treatment Network (ATN).

"Past research has found that children with ASD often have trouble sleeping at night,” says psychologist and study co-author Micah Mazurek, of the University of Missouri’s Thompson Center for Autism and Neurodevelopmental Disorders. "Many children with ASD also struggle with regulating their behavior during the day. In this study, we were specifically interested in whether sleep is related to challenging behavior.”

The Thompson Center is one of 14 Autism Speaks ATN sites across the U.S. and Canada.

To study the connection between sleep and behavioral problems Mazurek and co-author Kristin Sohl, a neurodevelopmental pediatrician, surveyed parents of 81 children affected by autism. They looked at a range of sleep problems known to be common among children with autism. These include trouble falling asleep, trouble staying asleep and early wakening. They then examined whether and how these problems related to autism-related behavioral problems such as aggression, irritability, inattention and hyperactivity.

Mazurek and Sohl found sleep difficulties to be highly related to daytime behavioral problems. In particular, those children who weren't sleeping well had greater problems with aggression, irritability and paying attention during the day. And children who wakened frequently through the night had the most trouble with daytime behavior.

Going forward, the researchers plan to explore underlying causes and improved interventions for autism-related sleep difficulties. In the meantime, they encourage parents to discuss their children’s sleep issues with their doctors.

“Addressing these issues will help children be at their best during the day." Mazurek says.

Based on the pioneering work of ATN sleep researcher Beth Malow, Autism Speaks has published three age-appropriate ATN/AIR-P Sleep Strategies Guides for children and teens with autism. All three can be downloaded free of charge from the Autism Speaks website here.

“It’s important that individuals with ASD are routinely screened for underlying medical conditions including sleep disturbances,” concludes Donna Murray, Autism Speaks vice president for clinical programs and the Autism Treatment Network. “As part of its mission, the ATN is making sure that our clinicians are identifying and addressing these vital issues.”

To learn more, also see:

* Q&A with Authors of 'Solving Sleep Problems in Children with Autism'

* Helping our Teens with Autism Sleep 

* Office Hours with Dr. Buie: Autism and GI-related Sleep Issues

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

Shank3 ranks among the best studied genes associated with autism. Around 1 percent of people with autism lack a working copy of the gene, which is critical for brain development.

Now researchers working with genetically engineered mice have shown that they can reverse repetitive behaviors and social avoidance by switching a disabled SHANK3 gene back on – even in adulthood. The result, they say, hints that the mature brain can at least partially rewire itself.

“In thinking about the development of new therapies for autism, there has long been a question of whether these potential therapies would have much benefit in older individuals,” comments Mathew Pletcher, Autism Speaks vice president, head of genomic discovery. “This study provides further evidence that even in adulthood, changes that address the underlying genetic cause of autism could provide a benefit.”

“This suggests that, even in the adult brain, we have profound plasticity to some degree,” says senior study author Guoping Feng, a neuroscientist at the Massachusetts Institute of Technology (MIT). “There is more and more evidence showing that some of the defects are indeed reversible.”

The study appears online in the journal Nature.

Vital for brain communication
The Shank3 gene spells out instructions for creating a protein that helps brain nerve cells (neurons) communicate with each other. The Shank3 protein also helps organize hundreds of other proteins involved in coordinating a neuron’s response to incoming signals.

A missing or defective Shank3 gene disrupts communication between neurons and is associated with repetitive behaviors, avoidance of social interaction, anxiety and difficulty with motor coordination.

In previous research, the MIT investigators showed that Shank3 gene defects also reduce the abundance of dendritic spines – small buds on the neurons’ surface that help convey signals between brain cells – in some brain areas. (See photo above.)

Engineering an off/on gene switch
In the new study, the MIT researchers genetically engineered mice to turn off so that their Shank3 gene was turned off during embryonic development but could be turned back on by adding the drug tamoxifen to the mice’s diet. (To be clear, the researchers are not proposing to use tamoxifen as a treatment for autism. Rather, they cleverly engineered their gene knock-out to be reversed by the chemical.)

When the researchers switched on the gene in young adult mice (1 to 4.5 months old), the mice lost their social avoidance and stopped engaging in repetitive behaviors such as compulsive grooming.

Inside the brain, the team found that the density of neuron dendritic spines dramatically increased in brain areas where they had been abnormally reduced. This, they said, demonstrates the adult brain’s plasticity, or ability to “rewire.”

However, the mice’s anxiety and motor coordination symptoms did not disappear. The researchers speculated that these behaviors were tied to early brain connections that are not easily reversed during adulthood.

To test this idea, the researchers tried switching on the Shank3 gene just 20 days after birth. In response, the mice’s anxiety and motor coordination improved.

The research team is now working on identifying the critical periods for the formation of Shank3-controlled brain connections. This, they hope, will help them determine the best time to intervene.

“Some circuits are more plastic than others,” Feng says. “Once we understand which circuits control each behavior and understand what exactly changed at the structural level, we can study what leads to these permanent defects, and how we can prevent them from happening.”

Relevance to people?
How might these findings in genetically engineered mice apply to the 1 percent of people with autism and Shank3 mutations?

In theory, the study authors say, the findings suggest that new gene-editing techniques could someday be used to repair defective Shank3 genes and, so, ease autism symptoms, even in adulthood. However, such techniques are not yet ready for use in humans.

In addition, Feng says that the insights from their study may guide more general approaches to repair or support brain connections to ease some of autism’s most disabling symptoms. 

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