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Got Questions? The Doctors Will Be In!

January 31, 2012 14 comments

Please join us Thursday Feb. 2nd for “The Doctors Are In!” the next in our ongoing series of monthly webchats co-hosted by Autism Speaks Chief Science Officer Geri Dawson, Ph.D., and our Assistant Vice President, Head of Medical Research Joe Horrigan, M.D.

Held at 3 p.m. Eastern (2 Central/1 Mountain/noon Pacific), this monthly “office hour” will provide ongoing, personal access to two leading clinical experts in the behavioral and medical treatment of autism. Dr. Dawson is a licensed clinical psychologist, and Dr. Horrigan is a board-certified child and adolescent psychiatrist.  Both have extensive clinical experience treating individuals with autism spectrum disorder (ASD).

Drs. Dawson and Horrigan welcome your questions on behavioral therapies, medical issues and other concerns related to autism. However, the guidance provided on the webchat is not meant to substitute for care by a personal physician and other appropriate care providers.

This and future webchats can be accessed via the “Live Chat” tab in the left column of the Autism Speaks Facebook page. You can also set up a personal email reminder with direct link here.

We hope you’ll mark it on your calendar:

The Doctors Are In!
* The first Thursday of every month
* 3 p.m. Eastern (2 Central/1 Mountain/noon Pacific)
* Join via the Live Chat tab at https://www.facebook.com/autismspeaks.

Read the transcript of last month’s “Office Hour” webchat here

Adults with Autism: Sharing Ideas, Filling the Gaps

January 30, 2012 30 comments

Guest post by Merope Pavlides, editor of AutismAfter16.com, author of Animal-assisted Interventions for Individuals with Autism and mom to two sons, one of whom is on the autism spectrum.

Autism is not a condition of childhood. Autism follows the person. It follows the person into the workplace, the community, adult relationships and health care. Until recently, however, little attention has been paid to issues surrounding adulthood with autism. Fortunately, we have now begun a national dialogue, and Autism Speaks is bringing its voice—and resources—to the discussion in a big way.

On January 26th, Autism Speaks held a research summit entitled, “Adults with Autism: Sharing Ideas, Filling the Gaps,” in Chapel Hill, NC. The event was co-hosted by Extraordinary Ventures, a model employer of adults with autism. Extraordinary Ventures was founded by Autism Speaks supporters and parents Lori and Gregg Ireland.

The meeting brought together many premier scholars on adult autism issues, as well as Autism Speaks representatives, autism service providers, parents and donors. My husband, Peter Emch, and I were invited to participate as parents and long-time supporters of Autism Speaks. The very fact that Autism Speaks included parents in an event like this is hugely meaningful, because it grounds the research agenda in real-world experience and need.

Moderated by Autism Speaks Chief Science Officer, Geri Dawson, Ph.D., the meeting provided the opportunity for investigators to present overviews of current research projects funded by Autism Speaks and for all participants to ask questions and share ideas. The morning session showcased studies aimed at describing autism spectrum disorder (ASD) in adults, while we spent the afternoon with prescriptive research involving topics such as how to improve interventions.

Morning keynote speaker Marsha Mailick Seltzer, Ph.D., of the University of Wisconsin’s Waisman Center, outlined “Trajectories of Development in Adolescents and Adults with ASD.” Afternoon headliner Paul Shattuck, Ph.D., of Washington University, discussed “Service Use and Outcomes among Youth with ASD.” I found it interesting that both Seltzer and Shattuck noted that, despite few published studies on adults with autism, there is an abundance of data awaiting analysis. This means that we need to be investing resources in finding the meaning in the information that’s already available.

As a parent of a young adult with autism, it’s gratifying to sit in a room with so many smart, energetic people and learn that they want to bring their talent and enthusiasm to bear on the same issues that worry me as a parent. I’m also a special educator. As such, I’m so glad to see researchers demonstrating concern for how academic findings translate into real-life practice. While it’s crucial that we continue to deepen our understanding of what life is like for adults with autism, it’s just as important to make immediate progress in improving their lives.

I was especially excited to hear so much conversation on the topic of our adults as learners. As a society, we tend to think about the autism service system for adults as involved exclusively in care giving. Rather we need to develop dynamic supports that provide ongoing opportunities for personal growth and development. The summit allowed those who are studying adult needs to connect with those who are examining skill-building models. It’s this type of collaboration that fosters new programs that not only look good on paper, but also work in the real world.

Finally, participating in an event like this reminds me of how important it is for families to understand that they are integral to the research process. Sometimes we feel as though investigators go about their work in ivory towers without understanding the real needs of those on the ground. As families, we must be active participants in the research process. Not only in the sense of filling out questionnaires and providing information, but in terms of actively making use of the knowledge emerging from this research. That doesn’t mean we need to bury our noses in scholarly journals. It does mean that we need to enter into thoughtful discussion with scientists about how to incorporate what they are learning into what we need from adult service providers. Good scholarship is being conducted through Autism Speaks funding. As a community, let’s not allow it to happen in a vacuum.

[Editor’s note: Thanks to our grant search engine, you can explore Autism Speaks-funded research concerning adolescents, adults and related services here.]

I’ve been reading news reports that it might be possible to detect autism by watching how much a 1-year-old focuses on a speaker’s mouth. Is this true?

January 27, 2012 4 comments

This week’s “Got Questions?” answer is from Autism Speaks Chief Science Officer Geri Dawson, Ph.D.

In recent days, you may have read media stories about research showing that typically developing babies tend to switch from eye gazing to lip reading when first learning to talk, but then switch back to focusing primarily on a speaker’s eyes by 12 months. The research report appears online this week in the Proceedings of the National Academy of Sciences.

In reporting their results, developmental psychologist David Lewkowicz and doctoral student Amy Hansen-Tift, of Florida Atlantic University, suggest that this shift in focus may be different for infants who have autism spectrum disorder (ASD) or are at risk for developing it. Taking this idea a step further, they propose that paying attention to how babies shift their focus during their first year of life might help identify infants at risk for ASD – perhaps before other obvious symptoms emerge. To back their idea, they cite previous research suggesting that 2-year-olds with autism tend to look mostly at the mouths of those speaking to them, while typically developing 2-year-olds focus mostly on eyes.

It’s an intuitively appealing idea. But in truth, past studies have not consistently supported this notion that children with ASD focus less on eyes and more on mouths.

It is true that children with autism tend to pay less attention to social actions such as expressions. However, it’s possible that children with autism, like typical children, show a similar pattern of paying more attention to the mouth when they are learning language.

Given that language delays are common among children with autism, one would predict that this language-acquisition period might be prolonged. In addition one would expect that mouth-versus-eyes gaze patterns would vary among children with ASD depending on each child’s level of language skill.

Fortunately, while we don’t yet know whether eye gaze is a reliable predictor of ASD, research solidly supports the usefulness of other signs for screening toddlers. The American Academy of Pediatrics (AAP) recommends that all children receive autism screening at 18 and 24 months of age. One of the AAP’s recommended screening tools is the Modified Checklist for Toddlers, or M-CHAT, which you can access on our website, here. Please also see our Learn the Signs resource page.

Meanwhile, Autism Speaks continues to fund a wealth of research on early screening and diagnosis because evidence suggests that early intervention improves outcomes. You can explore these and other Autism Speaks studies here. This research – like all the resources Autism Speaks develops and offers – is made possible by our families and supporters. Thank you for your support.

For more research news and perspective, please visit our science page.

Autism and Associated Medical Conditions

January 24, 2012 18 comments

Guest post by epidemiologist Laura Schieve, Ph.D., of the National Center on Birth Defects and Developmental Disabilities, at the Centers for Disease Control and Prevention.

In recent years, several reports have suggested that children with autism or other learning or behavioral developmental disabilities are more likely than typically developing children to have health conditions such as respiratory or gastrointestinal illnesses.

However the studies behind these reports were often small and showed inconsistent findings. Some of their methods had limitations. One of the biggest problems was that they didn’t adequately compare children with different types of developmental disabilities. Because of these limitations, many public health professionals and healthcare providers have been skeptical about whether children with autism or other behavioral developmental disabilities truly faced an elevated risk of other medical problems.

My colleagues and I wanted to help paint a clearer picture of this important public health issue. Our study, recently published in the journal Research in Developmental Disabilities, compared the medical conditions and healthcare needs of children with developmental disabilities with those of children without developmental disabilities. We also compared children with autism with those who had other developmental disabilities.

We assessed children included in the National Health Interview Surveys from 2006 to 2010. Households throughout the United States are randomly selected to participate in this annual survey. In households with children, one child is randomly selected to participate. Each child’s parent or other primary caregiver is interviewed in-person about the child’s health and development. Interviewers asked whether a doctor or other healthcare provider has ever told them the child has certain conditions including autism and several other developmental disabilities. We also ask if the child has a health condition such as asthma or has experienced other symptoms such as frequent diarrhea or colitis in the past year.

We included more than 41,000 children aged 3 to 17 years in the study. Of these, 5,469 had one or more of the following five developmental disabilities:  autism, intellectual disability, attention deficit and hyperactivity disorder (ADHD), learning disability or other developmental delay.

As a group, these children had higher than expected rates of all of the medical conditions we studied. More specifically, they were:

* 1.8 times more likely than children without developmental disabilities to have ever had an asthma diagnosis,

* 1.6 times more likely to have had eczema or a skin allergy during the past year,

* 1.8 times more likely to have had a food allergy during the past year,

* 2.1 times more likely to have had three or more ear infections during the past year,

* 2.2 times more likely to have had frequent severe headaches or migraines during the past year, and

* 3.5 times more likely to have had frequent diarrhea or colitis during the past year.

These increased rates of health conditions held true even for children diagnosed with ADHD or learning disability, but not diagnosed with autism or intellectual disability.

However, one finding stood out in particular when we compared the developmental disability groups to each other: Children with autism were twice as likely as children with ADHD, learning disability or other developmental delay to have had frequent diarrhea or colitis during the past year. They were seven times more likely to have experienced these gastrointestinal problems than were children without any developmental disability.

This detailed assessment demonstrates that children with autism or many other types of developmental disabilities do, in fact, face an increased risk for many common health conditions. This, in turn, provides evidence that children with developmental disabilities require increased health services and specialist services, both for their core functional deficits and for health problems beyond their core developmental disabilities.

Reference: Schieve LA, Gonzales V, Boulet SL, Visser SN, Rice CE, Van Naarden-Braun K, Boyle CA. Concurrent medical conditions and health care use and needs among children with learning and behavioral developmental disabilities, National Health Interview Survey, 2006-2010.  Res Dev Disabil. 2011;33:467-76.

Read more autism research news and perspective on the science page. Explore the studies Autism Speaks is funding with our Grant Search. And thanks for making this research possible! 

The Changing Definition of Autism: Critical Issues Ahead

January 20, 2012 76 comments

Posted by Autism Speaks Chief Science Officer Geri Dawson, PhD.

Many in our community are understandably concerned that a planned revision of the medical definition of autism spectrum disorder (ASD) by the American Psychiatric Association (APA) will restrict its diagnosis in ways that will prevent many persons from receiving vital medical and social services.

Before I catch you up on some of the details behind this revision, let me first say that although the proposed changes have a solid scientific rationale, we at Autism Speaks are likewise concerned about their effect on access to services. It is crucial that these changes don’t result in discrimination against people who are struggling with autism symptoms.  As the APA moves forward in formalizing the new definition, we urge that this issue be kept at the forefront of the discussion. As the changes are implemented, scientists, families and providers will all need to carefully monitor its impact on those affected by all forms of ASD. The bottom line is this: We must ensure that all those who struggle with autism symptoms get the services they need.

Now let me provide some background.

The APA is currently completing work on the fifth edition of its Diagnostic and Statistical Manual of Mental Disorders (DSM-5), which will be published in 2013. The DSM is the standard reference that healthcare providers use to diagnose mental and behavioral conditions. As such, it influences availability of treatments as well as insurance coverage.

An expert panel appointed by the APA has proposed that the new version of the DSM change the current definition of ASD, in part because of shortcomings in how it is currently used for diagnosis. The new definition would do three things. First, it would eliminate the previously separate categories of Asperger syndrome and pervasive developmental disorder, not otherwise specified (PDD-NOS) from the diagnostic manual. Second, it would fold these disorders, together with “classic” autism, into the single category of ASD. Finally, it would change the criteria for diagnosing ASD.

Under the current definition, a person can qualify for an ASD diagnosis by exhibiting at least 6 of 12 behaviors that include deficits in social interaction, communication or repetitive behaviors. Under the proposed definition, the person would have to exhibit three deficits in social interaction and communication and at least two repetitive behaviors. The APA has also proposed that a new category be added to the DSM – Social Communication Disorder. This would allow for a diagnosis of disability in social communication without the presence of repetitive behavior.

Based on a recent study, some experts are suggesting that many individuals who currently meet the criteria for ASD, especially those who are more cognitively capable, would no longer meet criteria for ASD. If so, the new criteria would result in discrimination against people who are more cognitively capable.  We are concerned about this and will do all we can to ensure that all people who are struggling with autism symptoms retain the services they deserve.

As these new criteria are rolled out over the coming year, Autism Speaks’ position is that it will be vitally important to collect meaningful information on how the change impacts access to services by those affected by autism symptoms. Further policy changes may be needed to ensure that all persons who struggle with autism symptoms get the services they need.

It is important to keep in mind that this revision in the medical definition of ASD is not just an academic exercise. These changes in diagnostic criteria will likely have important influences on the lives of those in our community who critically need services.

[Editor's note: Please see the Autism Speaks policy statement on the DSM-5 revisions and a related FAQ here.]

Tune-in today to hear Autism Speaks’ leadership discuss the recently released analysis of the DSM-5, to be published in 2013, and hear about its potential implications for individuals to receive an autism diagnosis and appropriate services.

  • Then, please join us for a live web chat at 3 pm Eastern with Autism Speaks Chief Science Officer Dr. Geraldine Dawson and Vice President of Family Services Lisa Goring – click on the tab on the Autism Speaks Facebook page to join in!
You can read the full Chat Transcript here.

Watch Autism Speaks’ Dr. Andy Shih discuss the story on MSNBC “News Nation with Tamron Hall”

What is epigenetics, and what does it have to do with autism?

January 20, 2012 11 comments

This week’sGot Questions?” answer comes from Alycia Halladay, PhD, Autism Speaks director of research for environmental sciences

If you’ve been following autism research in recent years, you have probably read—many times—that familial, or inherited, risk is seldom the whole picture. A few inherited genes are sufficient by themselves to cause autism. But most so-called “autism genes” only increase the risk that an infant will go on to develop this developmental disorder. As is the case in many complex diseases, it appears that autism often results from a combination of genetic susceptibility and environmental triggers.

This is where epigenetics comes in. Epigenetics is the study of the factors that control gene expression, and this control is mediated by chemicals that surround a gene’s DNA. Environmental epigenetics looks at how outside influences modify these epigenetic chemicals, or “markers,” and so affect genetic activity.

It is important to remember that scientists use the term “environment” to refer to much more than pollutants and other chemical exposures. Researchers use this term to refer to pretty much any influence beyond genetic mutation. Parental age at time of conception, for example, is an environmental influence associated with increased risk of autism, as are birth complications that involve oxygen deprivation to an infant’s brain.

Because epigenetics gives us a way to look at the interaction between genes and environment, it holds great potential for identifying ways to prevent or reduce the risk of autism. It may also help us develop medicines and other interventions that can target disabling symptoms. We have written about epigenetics previously on this blog (here and here). So in this answer, I’d like to focus on the progress reported at a recent meeting hosted by Autism Speaks.

The Environmental Epigenetics of Autism Spectrum Disorders symposium, held in Washington, D.C. on Dec. 8, was the first of its kind. The meeting brought together more than 30 leaders in autism neurobiology, genetics and epidemiology with investigators in the epigenetics of other complex disorders to promote cross-disciplinary collaborations and identify opportunities for future studies.

Rob Waterland, of Baylor College of Medicine in Texas, described epidemiological studies and animal research that suggested how maternal nutrition during pregnancy can affect epigenetic markers in the brain cells of offspring.

Julie Herbstman, of Columbia University, described research that associated epigenetic changes in umbilical cord blood with a mother’s exposure to air pollutants known as polycyclic aromatic hydrocarbons (PAHs). PAHs are already infamous for their association with cancer and heart disease.

Rosanna Weksberg, of the Hospital for Sick Kids in Toronto, discussed findings that suggest how assisted reproductive technology may lead to changes in epigenetically regulated gene expression. This was of particular interest because assisted reproduction has been associated with ASD. Taking this one step further, Michael Skinner, of Washington State University, discussed “transgenerational epigenetic disease” and described research suggesting that exposures during pregnancy produce epigenetic changes that are then inherited through subsequent generations.

Arthur Beaudet, of Baylor College of Medicine, discussed a gene mutation that controls availability of the amino acid carnitine. This genetic mutation has been found to be more prevalent among children with ASD than among non-affected children, suggesting that it might be related to some subtypes of autism. Further study is needed to follow up on the suggestion that dietary supplementation of carnitine might help individuals with ASD who have this mutation. Caution is needed, however. As Laura Schaevitz, of Tufts University in Massachusetts, pointed out, studies with animal models of autism suggest that dietary supplementation may produce only temporary improvements in symptoms of neurodevelopmental disorders.

So what does this all mean for research that aims to help those currently struggling with autism? The meeting participants agreed that the role of epigenetics in ASD holds great promise but remains understudied and insufficiently understood. For clearer answers, they called for more research examining epigenetic changes in brain tissues. This type of research depends on bequeathed postmortem brain tissue, and Autism Speaks Autism Tissue Program is one of the field’s most important repositories. (Find more information on becoming an ATP family here).

The field also needs large epidemiological studies looking at epigenetic markers in blood samples taken over the course of a lifetime. One such study is the Early Autism Risk Longitudinal Investigation (EARLI). More information on participating in EARLI can be found here.

Autism Speaks remains committed to supporting and guiding environmental epigenetics as a highly important area of research.  We look forward to reporting further results in the coming year and years.

Got more questions? Send them to gotquestions@autismspeaks.org.

Read more autism research news and perspective on the science page.


International Conference on Autism in Ireland

January 18, 2012 4 comments

University President James Browne welcomes attendees.

Posted by Simon Wallace, Autism Speaks director of scientific development for Europe

A fine mist was rolling in off the Atlantic as we made our way to the opening session of last week’s International Conference on Autism at the National University of Ireland, in Galway. Autism Speaks partnered with the university and the American Ireland Fund to put together a program that attracted not only researchers and clinicians, but also parents and policy makers. In all, more than 600 delegates attended this productive conference in the beautiful town of Galway, on Ireland’s west coast. The meeting was very much the brainchild of Autism Speaks board member Adrian Jones, a native of Ireland who now works for Goldman Sachs, in New York City. (You can view the full program here.)

Parents and educators joined researchers and physicians.

We received a warm welcome from National University of Ireland President James Browne before spending two days hearing from international experts on advances in clinical practice, early intervention therapies and educational supports. As hoped, the presentations spanned the range of evidence-based practices in the United States and Europe. This included important information coming out of our own Autism Treatment Network (ATN) and other Autism Speaks programs and initiatives.

The morning presenters included Helen McConachie, of Newcastle University, who spoke about early intervention. Gillian Baird, a pediatrician from Guy’s Hospital in London, spoke as the chair of a committee that developed the United Kingdom’s clinical guidelines on referral and diagnosis of children and teenagers with autism. Also presenting was Cathy Lord, of Columbia University. Lord has been centrally involved in the upcoming revision of the Diagnostic and Statistical Manual (DSM), which physicians use to diagnose autism and related disorders. She explained that there would no longer be three separate diagnoses of autism, Asperger syndrome and pervasive developmental disorder-not otherwise specified (PDD-NOS). In the future, these will all be included under the unifying diagnosis of autism spectrum disorder (ASD). This is to avoid the persistent inconsistencies in how physicians assign children to one of the three subtypes.

Afternoon workshops included a presentation by our own Vice President for Translational Medicine Rob Ring, who spoke about the latest evidence for clinical use of medications for patients with autism. ATN Program Director Nancy Jones presented on the network’s ongoing work developing best practices and clinical guidelines.

Connie Kasari, of the University of California-Los Angeles, presented the second day’s keynote address, which focused on the large numbers of children with autism who receive services in schools—and the need for more research on the effectiveness of these services. Among the interesting research findings that Kasari described was the insight that young children with autism are more “socially connected” than we previously assumed. Around 20 percent, she explained, enjoy close friendships. Intriguingly, Kasari has observed that this social connectedness drops when schoolchildren with autism go out for recess.

Minister Reilly speaks with reporters.

For me, the highlight of the second day was a presentation by Jamie Reilly, who spoke of the challenges growing up with autism and how he went on to graduate from Ireland’s top-rated university and is now studying for a master’s degree in Belfast. Reilly spoke of the importance of his family—in particular how his “mum” taught him strategies for overcoming many of the difficulties he encountered. He also described how he occasionally continued to make mistakes—for example, saying “good riddance” rather than “goodbye” to one of his teachers at the end of a lesson. With his fantastic sense of humor, Reilly kept us laughing throughout his presentation.

We also heard from Jamie Reilly’s father—James Reilly, a physician and Ireland’s current minister of health. Minister Reilly’s emotional presentation spoke of his pride in his son’s achievements and respect for his wife’s determined efforts to ensure that Jamie had the opportunities he needed. The minister spoke of the need to provide the best evidence-based approaches to help children with autism reach their full potential. He also announced his ministry’s commitment to provide an additional $4 million over the next three years to improve diagnostic and early intervention services. Minister Reilly will also be creating a senior post to coordinate autism-related activities across Ireland’s departments of health and education.

As we wrapped up this fantastic conference, many delegates told us that this was the largest conference ever held at the university and one that stood out in the sheer number of stakeholders from the autism community. We left for our homes and workplaces with the feeling that we are on the “front foot” for the New Year, thanks to what we learned about the latest research and guidelines on evidence-based practices.

Infectious Behavior: The Brain-Immune Connection

January 17, 2012 10 comments

The interconnectedness of the brain and immune system has become a fascinating new field of research, not only in autism but also schizophrenia and even depression. It can be complex stuff. But neurobiologist Paul Patterson, PhD, has produced a remarkably accessible and enjoyable book that intertwines history, case studies and laboratory science. He calls his slim but insightful volume Infectious Behavior: Brain-Immune Connections in Autism, Schizophrenia and Depression.

Patterson is a professor of biological sciences at the California Institute of Technology and a research professor of neurological surgery at the University of Southern California’s Keck School of Medicine. Readers of this blog may find his name and research interests familiar. Last month, we published a guest post from one of our Weatherstone Fellows who is launching her autism research career in his lab. There, Patterson and his junior colleagues are using mouse models to study how some types of maternal infection during pregnancy can increase the risk that a future child will develop autism. The research holds the potential for both deepening understanding of autism and leading to ways that pregnancy-related risks might be reduced.

Infectious Behavior explores new discoveries about the powerful biochemical communication that takes place between the brain and the immune system (which protects our bodies from infections and cancer). Patterson lets us listen in on some of this brain-immune “crosstalk,” and he explains how it can provide clues to the nature and causes of common but mysterious disorders of brain development and function. Some of this research, he argues, may shed light on today’s autism epidemic.

“Paul Patterson is attempting to describe a new field of study of which he himself is the leading pioneer,” writes Robert Freedman, MD, chair of psychiatry at the University of Colorado. “[His] efforts are unique in that they bridge the basic science and clinical world in a way that no other researcher in this field has done.”

It’s an engaging and thought-provoking read for nonscientists and scientists alike.

…More autism research news and perspective on the Science page.

I am a 26 years old with autism and many attention-seeking behaviors. What causes them? I am verbal.

January 13, 2012 6 comments

Today’s “Got Questions?” answer comes from Autism Speaks Chief Science Officer Geri Dawson, PhD

Thanks so much for your question. There are many reasons why a person with autism would engage in many attention seeking behaviors. Perhaps you would like to socially interact and make friends with others, but aren’t quite sure the best way to do this. If you are being ignored by others, this might lead you to repeat your attempts to interact again and again.

If you are engaging in a behavior that is ritualized (exactly the same each time) and repetitive, it might reflect a general tendency to engage in repetitive behaviors, which is a symptom of autism. With appropriate guidance, you can learn more appropriate ways of seeking attention and this will help you develop more satisfying relationships with others. Seeking the help of a psychologist or behavior analyst may be particularly beneficial.

For more information and resources, you can follow these links to our pages on Applied Behavioral Analysis, Adults with Autism and Adult Services.

Got more questions? Send them to GotQuestions@autismspeaks.org, and join Dr. Dawson  for her next “Office Hours” webchat with co-host, Joe Horrigan, MD, Autism Speaks assistant vice president and head of medical research (first Thursday of every month at 3 pm Eastern)

Thank You for Supporting our Pioneering Research

January 10, 2012 8 comments

Guest post by epidemiologist Daniele Fallin, PhD, of Johns Hopkins Bloomberg School of Public Health

My work focuses on autism and understanding how genes and environments interplay to cause this developmental disorder. Much of this work is funded by federal grants, but there can be gaps in what these grants can support, especially in new fields of research. Support from Autism Speaks has been amazing in helping fill these gaps.

In particular, Autism Speaks provided important support for two of my current projects. The funding is allowing us to study families with autism and, so, gain insights into  interactions between autism risk genes and environment exposures.

The Early Autism Risk Longitudinal Investigation (EARLI) is a national study of families that have at least one child on the autism spectrum and anticipate having more children. By following these high-risk families we seek to identify causes and risk factors—be they genetic, environmental or a combination of both. Information is regularly collected from mothers enrolled in the study, and their newborns receive free developmental assessments until 3 years of age.

The second study is a genome-wide investigation of DNA methylation, or epigenetics. It will allow us to investigate how various environmental exposures can affect gene expression in ways that increase—or potentially decrease—the risk of autism. This study will place special focus on environmental exposures during crucial periods of prenatal brain development.

Autism Speaks realizes the importance of these new areas of research and has put forth great effort to ensure we can explore and, hopefully, uncover risk factors for autism that, over the long term, may lead to prevention and improved treatments.

We continue to recruit study participants. Specifically we are enrolling mothers who have one or more children with autism and who may become pregnant or who are currently less than 28 weeks pregnant. They must live near an EARLI research site (California, Maryland or Pennsylvania). For more details, please visit www.EARLIstudy.org or our Facebook page.

On behalf of the EARLI research team, I want to extend a special thanks to Autism Speaks supporters for helping make this pioneering research possible.

Explore more of the studies our supporters are funding with our Grant Search Engine. And read more autism research news and perspective on the science page.

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