Post by Francesca Happé, president of the International Society for Autism Research (INSAR) and director of the Medical Research Council’s Social, Genetic and Developmental Psychiatry Centre at King’s College London.
I am pleased to take this opportunity to share with the Autism Speaks community the state of the science being presented this week at the International Meeting for Autism Research (IMFAR).
Nearly 2,000 scientists and researchers will gather in Salt Lake City to discuss and debate the latest findings about this most mysterious of conditions. Since autism was first named, a little more than 70 years ago, much has been learned — but many questions remain.
One of the major challenges to research is that the manifestation is so varied, giving rise to the notion of the autism spectrum.
One child with autism may be silent, aloof, not seeking out his parents even when hurt or upset. We see this child seemingly locked into repetitive play such as lining up toys or spinning coins for hours on end.
Another individual on the spectrum may talk incessantly about football scores, be indiscriminately over-friendly and unable to tell the difference between a joke and a lie.
The wide range of symptoms makes it hard to research causes or treatments for autism spectrum disorder (ASD). Many researchers now talk about "the autisms."
No doubt there are many routes to autism. Instead of one gene for autism, research has identified hundreds that probably combine in multiple ways to predispose an individual to autism.
Among the topics that will be exercising minds at IMFAR 2015 is the identification of biomarkers that can help researchers divide ASD into more-homogeneous subgroups. One IMFAR session will focus specifically on how genomic discovery may enable us to identify autism subtypes and guide research into their tailored treatments.
The potential for new pharmaceuticals
Developing new pharmacological treatments is the goal of the European Autism Interventions — A Multicenter Study for Developing New Medications (EU-AIMS), supported by the largest single grant for autism research anywhere in the world. The latest findings from this $33.6 million academic-industry collaboration will be presented at IMFAR 2015 in the panel “Translating Cellular and Animal Models of Synaptic Gene Deficits to Large-Scale Clinical Studies.”
Learn about Autism Speaks’ role in EU-AIMS, the world’s largest study for developing autism medicines here.
In his keynote address, Columbia University’s Jeremy Veenstra-VanderWeele will likewise discuss cutting-edge work on pathways to new treatments for ASD.
Advances in behavioral therapies
Currently, our most effective interventions for ASD are educational and behavioral. So it is fitting that our second keynote address will be delivered by Sally Rogers, professor of psychiatry and behavioral sciences at UC Davis MIND Institute. Dr. Rogers will reflect on 50 years of early intervention for autism, which has demonstrated that remarkably good outcomes are possible.
Autism and mental health
Much of what makes life difficult for people with ASD is not autism itself, but the physical and mental health issues that frequently accompany autism. These conditions include epilepsy, intellectual disability, sleep problems, anxiety and depression. Mental health issues, in particular, frequently worsen in adolescence or adulthood, even while autism symptoms are becoming more subtle.
A number of presentations at IMFAR 2015 will cover clinical and epidemiological perspectives on co-occurring psychiatric disorders across the life span, as well as new interventions for problems such as anxiety in ASD.
Beyond early intervention: Autism in adulthood
The popular concept of autism is of the child with the far-away gaze, and the vast majority of autism research focuses on children. However, it's become increasingly important to remind ourselves that most people with autism are adults.
Concentration on early diagnosis and intervention for ASD has been important. But it can leave the impression that later intervention is impossible or ineffective. In fact, little is known about ASD in older adults. It may be that intensive interventions can lead to major improvements in functioning and well-being late in life.
It is therefore encouraging that new research will be presented at IMFAR 2015 on adult interventions, aging and factors associated with adult outcomes in ASD.
Follow Autism Speaks’ daily coverage of IMFAR research presentations here.
Autism in girls and women
According to current estimates, males diagnosed with autism outnumber females 4 to 1, with the ratio more skewed at the high-functioning end of the spectrum. The source of this imbalance is not known, though it’s not unique to ASD.
Understanding the origins and nature of sex differences is important to improve recognition and services for girls and women on the autism spectrum. Increasingly, women with ASD are telling their own stories. Researchers attending IMFAR 2015 will benefit from a panel session focused on the first-person experience of people with ASD.
Anthropologist and father of a daughter with ASD, Roy Richard Grinker, director of the Institute for Ethnographic Research at the George Washington University, will open the meeting with IMFAR 2015’s third keynote presentation: "Who Owns Autism? Exceptionalism, Stigma and Stakeholders."
Serving the underserved
We must also remind ourselves that the vast majority of the estimated 7 million people living with autism live in nations with little access to professional services.
This year’s IMFAR will include a special meeting of “Autism Researchers without Borders,” a collaboration between Autism Speaks and INSAR born at last year’s conference. We will be enlisting autism researchers to join us in changing the lives of millions affected by autism worldwide, while advancing our understanding of autism risk factors, diagnosis and treatments.
I want to extend a personal thanks to Autism Speaks’ Andy Shih, the inspiration behind “Researchers without Borders,” among the latest programs to come out of Andy’s leadership of Autism Speaks Global Autism Public Health initiative.
The future of autism research
For autism research to take the next leap forward, I see a need for three big initiatives.
First, we need genetic research on the scale seen in other conditions, with tens of thousands and eventually hundreds of thousands participants. This must include thorough information about each person’s skills and difficulties. We need this scale of research to discover the genetic pathways and mechanisms of this heterogeneous condition and enable us to improve outcome and quality of life for each individual.
This aim is already underway thanks to Autism Speaks’ MSSNG project.
Second, we need people with autism and their families to donate brain tissue when they die. Here, too, we have a powerful initiative underway: Autism BrainNet, a program co-funded by Autism Speaks and the Simons Foundation.
Serving the underserved
The third initiative is arguably even more important: to create open-access, globally accessible diagnostic tools for low-income settings.
More than 80 percent of autism research is carried out in high-income countries, with a bias of samples for wealthy white individuals. But 80 percent of those living with autism are in low-income countries. The tools currently used to diagnose autism are prohibitively expensive and impractical in these settings.
Here, too, Andy Shih and Autism Speaks have been instrumental in working with the World Health Organization to support the development of free diagnostic tools that can be used by nonspecialists such as community health workers around the world.
To learn more, see “Identifying Autism in Disadvantaged Regions: Challenges & Opportunities.”
Making ASD diagnosis and services available to all is not only a moral imperative, it’s a scientific one. Studying the rates and developmental trajectories of ASD in very different environments will shed new light on the etiology and nature of autism.
It is time for autism researchers to look outwards and think globally.
In closing, I want to thank the Autism Speaks community for its support of IMFAR and global autism research.