IMFAR Highlights Research Advances
Researchers Gather to Assess State of Autism Science
By Francesca Lyman
Autism remains a medical challenge that continues to elude scientists and clinicians as they delve into the workings of the brain underlying the disorder, and try to explain the increasing number of diagnosed cases cropping up in the United States and around the world.
Yet new findings and perspectives may be bringing greater hope to the fields of autism research -and to those struggling with the disorder – judging from the 6th annual International Meeting for Autism Research, or IMFAR, held in Seattle May 3-5. The conference was attended by more than 900 scientists, physicians, psychologists, psychiatrists, geneticists, neuroscientists, educators and parents, and drew participants from 30 countries around the world, including Africa, Australia, Canada, Europe, Hong Kong, India, Israel and Japan. Autism Speaks was a primary sponsor of the meeting along with Cure Autism Now (CAN), the National Institutes of Health (NIH) and the Autism Society of America (ASA).
“The autism field is really poised for some major discoveries,” said Peter Bell, Executive Vice President of Autism Speaks, introducing a keynote address by researcher Patricia Kuhl, co-director of the University of Washington’s Institute for Learning and Brain Science and an expert in how infants acquire language.
Kuhl, who has received funding from CAN, described how collaborations between the disciplines of behavioral science and neuroscience were combining to help better understand language, learning and the social brain.
Among them are tools like magneto-encephalography, or MEG, which allow physicians to map magnetic fields from neurons in the brain. Kuhl showed videos of how she and her colleagues placed caps fitted with sensors on heads of the children to record their brain waves as they listened to familiar words as well as the sound waves of words played backwards.
One interesting difference between typically developing children and children with autism, said Kuhl, is that autistic children have an unusual preference for the mechanical computer-generated warble of sound waves rather than the soothing tones of baby talk, which psychologists call “motherese.” This, she said, could serve as an early predictor of autism as well as a clue to its severity.
Using tools like these, researchers are helping facilitate earlier treatments, which can in some cases help slow or reverse the course of the autism spectrum disorder, said Geraldine Dawson, co-chairperson of the conference and Director of the University of Washington‘s Autism Center
Successes, Challenges in Research
Behavioral studies are only some of the areas in which scientists are beginning to make headway.
Dawson, who also serves on Autism Speaks Scientific Advisory Board, ticked off a list of successes in the field, from consortia studying the earliest signs of autism, to attempts at designing early interventions, to the assembly of large genetic collaborations and databases, like Autism Speaks’ Autism Genome Project (AGP) and the Autism Genetic Resource Exchange (AGRE), which are facilitating new genetic findings through fine-mapping of the genes that may shed further light on the workings of the disorder.
Several sessions highlighted some of thesignificant progress made in autism genetics, such as the work by Daniel Geschwind, the Director of the Neurogenetics Program at the University of California at Los Angeles and member of the steering committee of AGRE. Geschwind described the advances made to date using many different scientific approaches, which have pointed researchers towards select genes and chromosomes involved with autism susceptibility. Included in his discussion were the results of several large scale whole genome scans in autism.
Yet much about the genetics of this disease continues to be elusive. But many researchers, like geneticist Matt State of Yale University, who collaborates with Geschwind and also serves on the steering committee of AGRE, predicted rapid progress in the next couple of years and felt that “autism genetics is at a tipping point.” This is because the last few years have brought about improved technologies and management of the heterogeneity of autism.
“Now that we’ve assembled these large samples of genetic databases, we’re now just beginning to do the work of really investigating this disease, using all the analytical tools available, from fine-mapping of genes, to epidemiological and environmental studies,” added Dawson.
By convening one of the largest groups of autism researchers in a wide range of fields from neuroscience and psychology to epidemiology and biochemistry, as well as activists and parents, the conference succeeded in achieving its core goals, said Dawson, which she identified as “bringing together a wide range of experts to share information and present new findings for the benefit of people in autism.”
New Tools from Field of Neuroscience
In keynote speeches over three days, scientists presented new findings in a range of fields, from neuroscience to genetics to developmental psychology. In each area, presenters discussed the current state of the research, its applications, and how new research could be translated into new ways to diagnose and treat autism.
In the morning address that kicked off the conference, Anthony Bailey, Professor of Psychiatry at the University of Oxford, described a range of recently expanded tools in neuroscience leading to a better understanding of the neurological basis for autism, such as MEG and diffusion tensor imaging, DTI, which provide a finer-grain evaluation of abnormalities in neural function. These can add to other tools, like functional magnetic resonance imaging, or fMRI, which measures brain activity indirectly through changes related to blood flow, and can show differences between the way normally developing children process information in the brain compared to autistic children.
Bailey urged continued research at all levels, especially neuro-imaging, to better understand how autism develops and how it can be helped in later life. By juxtaposing the brain images of autism patients with those of neurotypical individuals, he revealed stark difference in their perception of basic shapes and pictorial material – like faces, houses, eye direction – and speed of recognition.
“What may seem like a simple psychological difference between autistic and non autistic individuals – their difficulties processing facial expressions – is, instead, a matter of great cognitive complexity,” explained Bailey.
He emphasized the need to describe the change in symptoms across the lifespan, from childhood into development. Sometimes these patients develop significant and useful skills later in life, said Bailey, “and we want to develop more effective mechanisms for understanding these processes.”
Bailey also stressed the importance of brain tissue research to better understand autism on a cellular and molecular level. In addition to preliminary neuropathology data he presented on a limited number of brain samples, an entire session of the meeting was dedicated to advancements in this area.
These included results from the largest cohort of age-matched brain tissue samples analyzed to date, as part of the Autism Brain Atlas Project funded by Autism Speaks and led by Jerzy Wegiel and Christoph Schmitz. Wegiel presented data that showed a reduction in the density of neurons in the caudate and putamen, and a shift toward larger than normal neurons in these areas.
These changes may contribute to motor difficulties as well as the pathology of dopamine circuits linked to repetitive behaviors. Schmitz’s group examined the number and density of neurons in the fusiform gyrus – an area of the brain linked to facial perception and found to be functionally abnormal in individuals with autism using fMRI techniques. Using sophisticated stereological techniques, the researchers found fewer neurons in multiple layers of the fusiform gyrus.
AS-funded researcher Manny Casanova and colleagues also had several presentations describing the detailed differences in a structural organization of the brain known as mini-columns. Together, this research emphasizes the role of brain tissue research in helping to determine the most basic cause of functional and behavioral symptoms in autism.
Early Detection, Treatment Viewed as Key
A general consensus was expressed across many broad themes at the conference: that early detection can help head off further neurological impairment and spur improvement; and that better understanding of a whole suite of mental, psychological and physical symptoms can make a difference in early treatment.
Karen Dobkins, a psychology professor at the University of California at San Diego, has found ways to test siblings at risk for autism using facial stimuli as early as 10 months of age. Outgoing INSAR President Sally Rogers, a professor of psychiatry and behavioral sciences at the University of California at Davis, has developed techniques to show how parents can recognize cues and intervene early enough to make a difference.
As part of a panel on the medical aspects of autism, Timothy Buie, a pediatrician specializing in gastro-intestinal disorders at Massachusetts General Hospital for Children in Boston and participant in the Autism Treatment Network (ATN), gave a presentation stressing the need for doctors and parents to be attentive to physical symptoms linked to autism. These include gastro-intestinal distress and other medical issues.
These kinds of cues, Buie suggested, might themselves even be clues to the etiology of the disease. “Psychologists treating autistic kids dismiss their other physical symptoms as simply being part of the syndrome and fail to adequately address them,” Buie said.
Karen Harum, a neurodevelopmental pediatrician attending the conference from Wilmington, N.C., agreed that these were important problems. “Most doctors aren’t well-educated on this disorder,” she said.
Addressing Autism’s Heterogeneity
Another key theme at the conference was the difficulty addressing the heterogeneity of the disorder from the standpoint of genetics. Researchers are looking for clues about which genes may contribute to increased susceptibility.
“We’re still uncertain about how autism might be transmitted in families, who’s affected and how they’re different,” said Yale’s State who added that there were likely multiple genes involved, as well as any number of potential environmental triggers.
State said geneticists are now looking at rare variants of genetic abnormalities, in the same way that Mary-Claire King, research professor in the Department of Medicine and Genetics at the University of Washington, cracked open an understanding of breast cancer by tracing its inheritance to specific genes. Explained State, the “driving rationale” for genetics is the “search for molecular pathways” that can explain the underlying pathology and become the focal point for treatment design.
Despite the expanding knowledge base on genetics, and the need for ongoing research in this area, Thomas Insel, director of the National Institute of Mental Health, spoke of the need to look more closely at environmental factors that may be playing a role in genetic mutations.
A better understanding of the genetics is only the beginning. “Genes interact with the environment to create differences in cerebral structure,” said Insel, who discussed the growing need to incorporate environmental studies into the mix. “While there’s been more traction on the genetics side, genetics alone is not explaining the rise in cases.”
Insel also commented on the fact that the conference seemed to be relatively light on environmental sessions, given its importance. “You can be sure this will show up with expanded focus,” said Insel, who mentioned that the National Institutes of Health is also launching a $40 million dollar Genes, Environment, and Health Initiative that may ultimately help researchers better understand the causes of neurodevelopmental disorders such as autism.
At the conference, several posters addressed assorted toxins and toxicants, from thimerosol-containing vaccines to PBDEs. A California Department of Health Services study found no decrease in autism despite the drop in the use of these vaccines, concluding that these don’t seem to be linked.
A study conducted by the University of California at Davis, and others, looking at concentrations of neurotoxic polybrominated diphenyl ethers, or PBDEs, found in flame retardants used in electric and textile products, noted high levels in developmentally-delayed children, but not children with autism spectrum disorder.
Many posters touched upon other environmental factors, including maternal immune responses and advanced parental age. Several presented preliminary data regarding the possible presence of anti-fetal brain autoantibodies in mothers of individuals with autism. Interestingly, in one study the presence of these specific antibodies was found more often in mothers of children who displayed the regressive form of autism. Older parental age has been previously linked to an increased risk of children with autism, and additional studies presented at this meeting also support the association. However, the influence that parental age has on the development of autism in children has yet to be fully understood.
‘Love Hormone’ Treatments?
One session organized by Autism Speaks Board Member Manny Dicicco-Bloom touched on the promise of oxytocin to treat aspects of autism. As part of the session’s focus on using animal models to help guide treatment design, speakers discussed how observations on the basic biology of two neuropeptides, oxytocin and vasopressin, has now led to the testing of oxytocin as a potential therapeutic for social cognitive deficits in autism
It may be too early for parents, doctors and psychologists to begin clamoring for the so-called “love hormone,” oxytocin, in hopes that it might help autistic children. But initial human studies, coupled with animal data, are converging so far to show that “treatments with oxytocin might be an exciting avenue to pursue,” according to Evdokia Anagnostou, assistant professor of psychiatry, Seaver Center and New York Autism Center of Excellence at Mount Sinai Medical Center.
Recent studies in healthy volunteers are showing that oxytocin, a brain hormone that helps ease milk “letdown” in breastfeeding mothers, also a critical hormone for labor and delivery, can also improve the ability of people to “interpret social cues as well as to increase trust,” said Anagnostou.
Anagnostou and Eric Hollander, who directs the Seaver Center, have found promising improvements in adults with autism given intravenous oxytocin, even two weeks after the chemical was administered. “Patients were much better at interpreting emotions, whether faces were happy or sad, when given this compound,” said Anagnostou.
“Not that she’s found a cure, but this early research shows promising preliminary new lines of inquiry,” said Elizabeth Aylward, a neurobiologist at the University of Washington.
Understanding and Coping with Rapid Rise in Autism
Several sessions on epidemiology broached the issue of understanding the dauntingly rapid rise of autism and addressed the need for much better information on the population-based prevalence of these disorders in the United States.
Researchers from the Centers for Disease Control found a higher prevalence among white, non-Hispanic children than black, non-Hispanic children. Another study by the California Department of Health Services also found similar racial disparities. Further research is needed to determine whether this represents a difference in prevalence or an inability to access necessary services.
“We’re beginning to do some very systematic studies,” said Rita Cantor, a professor of human genetics at UCLA, who moderated one of the epidemiological panels. “Genetics has been investigated more systematically because it is by nature so systematic,” she suggested, adding that using epidemiologyto understand risk factors is harder becausethere are few reliable registries and it’s more difficult to quantify potential environmental factors. “But we are beginning to put the important tools in place to study this comprehensively.”
Along those lines, for the third year in a row Autism Speaks hosted a special day-long International Epidemiology pre-conference that attracted representatives from over 20 countries. The goal was to encourage more rapid and accurate global autism epidemiology efforts through formation of a network of researchers willing to standardize their procedures and share data.
Epidemiological research in international territories is likely to shed light on the nature of the increase in prevalence, potential causes, including gene x environment interactions, as well as to globalize research and clinical services.
The meeting was followed up by an educational symposium titled “A World View of Autism Epidemiology” chaired by CDC epidemiologist Marshalyn Yeargin-Allsopp. Speakers discussed different strategies for examining the prevalence of autism based on available infrastructure.
Finally, teachers, psychologists and parents were excited by a range of new tools being developed to reach kids with autism by appealing to their preferences, using pictures and images they enjoy, like animations of mechanical objects such as vehicles with faces.
“Don’t anyone say, ‘Thomas the tank engine’ – we’re ‘The Transporters,’ said Ofer Golan of the University of Cambridge in the U.K., whose video production showed “how we graft real human faces onto animated vehicles, to help kids understand key emotions.”
Even more promising for parents, said Portia Iversen, co-founder of Cure Autism Now, was remarkable new research uncovered by Laurent Mottron of the Universite de Montreal. It overturns prevailing assumptions that all autistic kids are mentally retarded, finding that delayed age in producing language may not be an accurate predictor, for it may miss ‘hidden intelligence’ that emerges later in childhood or adulthood.
“This offers so much hope,” said Iversen, “when people by and large are told there isn’t any.”
For more information, visit http://www.imfar.org/
Francesca Lyman is an award-winning journalist, author and editor. For five years, she wrote the “Your Environment” column for MSNBC.com, and is the author of two books, The Greenhouse Trap: What We’re Doing to the Atmosphere and How We Can Slow Global Warming(Beacon Press), and Inside the Dzanga-Sangha Rain Forest: Exploring the Heart of Central Africa (Workman Publishing).
Autistic people have fought the inclusion of ABA in therapy for us since before Autism Speaks, and other non-Autistic-led autism organizations, started lobbying legislation to get it covered by insurances and Medicaid.
ABA is a myth originally sold to parents that it would keep their Autistic child out of an institution. Today, parents are told that with early intervention therapy their child will either be less Autistic or no longer Autistic by elementary school, and can be mainstreamed in typical education classes. ABA is very expensive to pay out of pocket. Essentially, Autism Speaks has justified the big price tag up front will offset the overall burden on resources for an Autistic’s lifetime. The recommendation for this therapy is 40 hours a week for children and toddlers.
The original study that showed the success rate of ABA to be at 50% has never been replicated. In fact, the study of ABA by United States Department of Defense was denounced as a failure. Not just once, but multiple times. Simply stated: ABA doesn’t work. In study after repeated study: ABA (conversion therapy) doesn’t work.
What more recent studies do show: Autistics who experienced ABA therapy are at high risk to develop PTSD and other lifelong trauma-related conditions. Historically, the autism organizations promoting ABA as a cure or solution have silenced Autistic advocates’ opposition. ABA is also known as gay conversion therapy.
The ‘cure’ for Autistics not born yet is the prevention of birth.
The ‘cure’ is a choice to terminate a pregnancy based on ‘autism risk.’ The cure is abortion. This is the same ‘cure’ society has for Down Syndrome.
This is eugenics 2021. Instead of killing Autistics and disabled children in gas chambers or ‘mercy killings’ like in Aktion T4, it’ll happen at the doctor’s office, quietly, one Autistic baby at a time. Different approaches yes, but still eugenics and the extinction of an entire minority group of people.
Fact: You can’t cure Autistics from being Autistic.
Fact: You can’t recover an Autistic from being Autistic.
Fact: You can groom an Autistic to mask and hide their traits. Somewhat. … however, this comes at the expense of the Autistic child, promotes Autistic Burnout (this should not be confused with typical burnout, Autistic Burnout can kill Autistics), and places the Autistic child at high risk for PTSD and other lifelong trauma-related conditions.
[Note: Autism is NOT a disease, but a neurodevelopmental difference and disability.]
Fact: Vaccines Do Not Cause Autism.