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!
Watch Autism Speaks’ Dr. Andy Shih discuss the story on MSNBC “News Nation with Tamron Hall”
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.
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Read more autism research news and perspective on the science page.
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.)
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.
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.
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.
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.
Guest post by Connie Kasari, Ph.D., Center for Autism Research & Treatment, UCLA Semel Institute
ABC 20/20 recently aired a tragic story that brings up anew the controversy surrounding the intervention called Facilitated Communication (FC). Faced with a lack of success with prior efforts, the family reached out to include FC (an intervention involving a “facilitator” who physically supports the arm of the individual as they use a keyboard to type). As the story is told, the facilitator, trained for only one hour, assisted the child in making salacious sexual abuse allegations against her father. As the investigation evolves, the case against the father falls apart. FC and the facilitator become the focus of scrutiny, while the family is torn apart.
This story will undoubtedly strike many chords with families and researchers alike. As a tragic case in point, the story highlights the desperation families feel in trying to find an intervention that can help their older, nonverbal person. Multiple research studies have rejected the benefits of FC, mainly because the purported effects of the therapy are often the thoughts of the facilitator and not the child, as was discovered in the 20/20 story (Jacobson et al, 1995). Professional organizations have not supported the use of FC with consistent position statements from the American Academy of Child and Adolescent Psychiatry (1993), the American Academy of Pediatrics (1998), American Association on Intellectual and Developmental Disorders (1994), the American Psychological Association (1994), the American Speech Language and Hearing Association (1994) and the Association for Behavior Analysis (1995). Yet parents still reach for disproven therapies, and even compel their schools to provide the therapy despite the research evidence.
Part of the issue here, is that there are few evidence -based communication interventions that have shown benefit to older, school aged children. This situation gives rise to the adoption of less effective interventions and should continue to call on researchers to pay greater attention to this group of individuals with autism. Indeed, the Interagency Coordinating Council for Autism, the National Institutes of Health and Autism Speaks have all placed a high priority on the development of innovative interventions for nonverbal individuals with autism.
While early intervention has decreased the numbers of nonverbal individuals, estimates are that between 30% and 40% of children with autism spectrum disorders remain minimally verbal, even after receiving years of interventions (NIH workgroup, 2010). Having access to communication is critical for all children. Augmentative systems can provide children with a voice, and some children have developed verbal abilities via typing or other communicative systems. Thus, the culprit in the intervention described in the 20/20 story was not the use of a keyboard but the methods used to help the child communicate. Teaching a child to use a keyboard often involves a period of physical prompting to teach the act of typing, but eventually the child should type independently, using little or no physical prompts. The addition of augmentative and alternative communication systems can have a profound effect on children’s ability to communicate, and indeed there are many cases of children who are able to type their responses or to use other augmentative systems. Witness the explosion of the iPad and speech generating applications for children with autism. These augmentative systems can result in improved communication and even increases in spoken language, although the evidence to date is anecdotal or limited to single case designs (Schlosser & Wendt, 2008).
High quality research studies are beginning to address this population of children who are school aged, and minimally verbal. Autism Speaks has funded a High Risk, High Impact intervention study on this population. The Characterizing Cognition in Nonverbal Individuals with Autism (CCNIA) intervention study is conducted at three sites: UCLA, Vanderbilt and Kennedy Krieger Institute and will finish this year.
CCNIA Intervention Study (Kasari, Kaiser, & Landa, 2009): Participants include children who are 5 to 8 years of age, produce fewer than 20 functional words, and who have already had at least two years of intensive intervention but are still not “talking”. The study utilizes an innovative design called a SMART (Sequential Multiple Assignment Randomized Trial) design (Murphy, 2005). This design recognizes the importance of consolidating early successes in treatment such that children are re-randomized to increased intensity of intervention or to the alternate intervention if they are not responding to the initial intervention to which they were randomized.
The interventions involve the merging of two evidence- based communication therapies JASPER (Joint Attention, Symbolic Play, Engagement & Regulation, Kasari et al, 2006, 2008, 2010); and EMT (Enhanced Milieu Training, Kaiser et al, 2000) with children randomized to JASPER/EMT only or to JASPER/EMT with the addition of a speech generating device. Children receive intervention twice per week for three months. Progress towards the initiation of socially meaningful communication is then evaluated. If children have met the defined criteria for improvement in communication, they stay the course for another three months. If they have not progressed they are re-randomized to receive increased intensity of the same therapy or to receive the speech-generating device if they received only the spoken language intervention initially. Children are followed up for three months after the six months of intervention.
While we won’t know the benefit of these interventions until the study is completed later this year, we believe that minimally verbal school aged children require an intervention approach that simultaneously (a) consolidates their early successes in intervention, and (b) adapts interventions to maximize their effects if there are early indications of non-response to the interventions. Sequential adaptations of intervention protocols may be needed to place all minimally verbal individuals on a positive, long-term course toward developing expressive language.
Interagency Autism Coordinating Committee (2011). 2011 IACC Strategic Plan for Autism Spectrum Disorder Research. http://iacc.hhs.gov/strategic-plan/2011/index.shtml.
Jacobson JW, Mulick JA, Schwartz AA. (1995). A history of facilitated communication: Science, pseudoscience, and antiscience: Science Working Group on Facilitated Communication. American Psychologist, 50, 750-765.
Kaiser, A. P., Hancock, T. B., & Nietfeld, J. P. (2000). The effects of parent-implemented enhanced milieu teaching on the social communication of children who have autism. Journal of Early Education and Development [Special Issue], 11(4), 423-446.
Kasari, C., Freeman, S., & Paparell, T. (2006). Joint attention and symbolic play in young children with autism: A randomized controlled intervention study. Journal of Child Psychology and Psychiatry, 47, 611-620.
Kasari, C., Gulsrud, A.C., Wong, C., Kwon, S., & Locke, J. (2010). A randomized controlled caregiver mediated joint engagement intervention for toddlers with autism. Journal of Autism and Developmental Disorders, 40, 1045-1056.
Kasari, C, Kaiser, A., & Landa, R. (2009). Developmental and Augmented Intervention for Facilitating Expressive Language. Sponsored by Autism Speaks, Grant 5666.
Kasari, C., Paparella, T., Freeman, S., & Jahromi, L.B. (2008). Language outcome in autism: Randomized comparison of joint attention and play interventions. Journal of Consulting and Clinical Psychology, 76, 125-137.
Murphy, S.A. (2005). An experimental design for the development of adaptive treatment strategies. Statistics in Medicine, 24, 1455-1481.
Schlosser, R., Wendt, O (2008). Effects of augmentative and alternative communication intervention on speech production in children with autism: A systematic review. American Journal of Speech-Language Pathology, 17 , 212–230.