Progress and Priorities in Autism Research: It’s Beginning to Feel a Lot Like Springtime
By Joshua Gordon on April 24, 2019
The cherry blossoms are blooming, the daffodils are bright, and it’s getting just warm enough to enjoy an early evening walk without a jacket. It’s April in Bethesda, time to dust off the outdoor furniture, put away the winter clothes, and... focus on autism. That’s right: April is Autism Awareness Month, time to take stock in where we’ve been, figure out what we’ve accomplished, and think about next steps.
First, we must recognize that for most individuals and families impacted by autism, though research has resulted in many positive changes, we still have a long way to go. In this spirit, it is worth spending a little time thinking about what the state of autism research and knowledge was approximately 20 years ago, how that has changed, and what we hope to know 20 years from now.
Early Signs: Autism’s Past
In 1999, when I was a resident in psychiatry, the state of the art in the field of autism care was very different from what it is today. There were actually three different diagnoses assigned to individuals on the spectrum at that time: autistic disorder, Asperger’s syndrome, and pervasive developmental disorder. While these labels meant something to the clinicians who used them, they did a poor job of reflecting the true heterogeneity of autism and were not really helpful in terms of guiding treatment.
Twenty years ago, it was thought that the symptoms of autism emerged closer to age three, so earlier diagnosis was not common, and although we had a valid screening tool that could help identify children at risk in the second year of life, this tool was in minimal use. Thanks in part to previous NIMH-funded research, we did have a novel therapeutic intervention – applied behavioral analysis – that for the first time offered hope for improving the developmental trajectory of children with autism, but it was costly and usually not covered by insurance.
What was happening in autism research 20 years ago? It was focused almost exclusively on boys – very few girls, and even fewer adults, were included in research. Other than intellectual disability and epilepsy, we knew very little about conditions that co-occur with autism, and although we knew autism had a strong genetic component, we knew next to nothing about the genes that contribute to it – the gene for Rett’s Syndrome, which shares many features with autism, was the first genetic factor of relevance to autism, identified that very year. And most disturbingly, in the wake of a scientifically flawed and inaccurate article published in 1998 (since discredited and retracted), scientists and parents worldwide were terrified by the possibility that the measles, mumps, and rubella vaccine (called “MMR” for short) might cause autism.
April Showers, May Flowers: Autism’s Present
Twenty years of hard work have resulted in great scientific progress and an updated understanding of autism spectrum disorder (ASD). The vaccine-autism link has been thoroughly debunked through some of the largest and most comprehensive psychiatric epidemiological studies ever performed. Meanwhile, we’ve made tremendous progress deciphering the genetic basis of autism, identifying nearly 100 different genes (not to mention multiple environmental factors) that contribute to autism risk. For some 15-20 percent of children receiving autism diagnoses today, genetic sequencing can pinpoint the causal mutation. And while these findings can’t yet inform treatment, many families and individuals on the spectrum are comforted by knowing this “genetic diagnosis.”
Speaking of diagnoses, the past two decades have led to the recognition that autism is best described as a spectrum. The revised diagnosis of ASD better captures the variation seen in different individuals with autism and has facilitated research aimed at parsing the heterogeneity of autism using data-driven approaches rather than arbitrary labels.
An improved understanding of the early behavioral signs of ASD and updated diagnostic tools now enable trained clinicians to make the diagnosis of ASD much earlier, and screening for ASD in the second year of life is now recommended by the American Academy of Pediatrics. Moreover, we know efforts to identify autism early are crucial, thanks in part to NIMH-funded research showing that children who get into treatment earlier have better long-term functional outcomes.
Treatment-wise, applied behavioral analysis is now widely accepted as an evidence-based therapy for ASD and is a mandated covered service in most states. Though more needs to be done to address challenges associated with ASD, there are two U.S. Food and Drug Administration (FDA)-approved drugs to treat irritability and aggression in ASD. In addition, there is a growing portfolio of research investigating the links between co-occurring conditions and ASD, and how we can best treat them.
In terms of research, there is now a strategic plan for autism research formulated by the Interagency Autism Coordinating Committee (IACC). The committee is tasked by the U.S. Congress to provide advice to the Secretary of Health and Human Services on issues related to ASD, and to coordinate autism research and services activities across the federal government, with input from stakeholders broadly representing the autism community. Using input from the IACC strategic plan, as well as information gathered from scientists and dedicated autism program officials, NIMH now funds a broader array of autism research.
For example, within the last five years, NIMH has supported research on previously under-researched groups of people with ASD, including girls and adults of any gender, ensuring that our findings are informative throughout the lifespan for all those affected. One early finding: we now know that some children with ASD will essentially “lose” the diagnosis by late adolescence – demonstrating that symptoms of ASD are not necessarily life-long and raising hope that better and earlier treatments can optimize outcomes for those on the spectrum.
To this end, we’re currently funding research to develop strategies for early screening to identify ASD at the earliest age possible. This research will also help us learn about how autism develops and to pave the way for newer, earlier, and better interventions focused on improving quality of life. We’re also investing in research on supportive services and solutions for improving outcomes for youth with ASD transitioning into adulthood and their families.
Visions of Summer: Autism’s Future
What will the state of autism research look like twenty years from now? It is incredibly hard to predict, but knowing the work we’re doing now, I’m optimistic that we will make important strides in the coming decades. I am hopeful that in the next 20 years, we’ll have thoroughly defined the genetic factors, and many of the environmental factors, that underlie the biology of autism, including the variations we observe across the spectrum of ability, gender, and the lifespan.
Having a better understanding of the environmental and genetic mechanisms of autism will, I hope, allow us to diagnose ASD during all stages of life with confidence. This knowledge may also lead to the development of new treatments for ASD and allow for the personalization of interventions, which will increase the likelihood of better outcomes for people on the autism spectrum.
Of course, not all of this may come to pass, and we hope the timeline is a little shorter. But in terms of autism research, it feels a lot like springtime, with our understanding of autism growing steadily. I am looking to a summery future with optimism and commitment.