Autism organizations, individuals with autism spectrum disorders (ASD), and parents have differing views on how best to proceed with autism research. However, nearly all of us can agree that the progress that has been made in understanding autism has been frustratingly slow.
True, many individuals on the autism spectrum are receiving much better treatment today than even a decade ago. However, numerous individuals with ASD are dissatisfied with the directions in which research is proceeding. Families are disappointed with the slow progress in developing interventions to help their children, especially those with severe challenging behaviors, those suffering from comorbid medical conditions, and those in their adult and senior years. Clinicians and therapists are frustrated by the limitations of current interventions. And due to the lack of well-validated treatment strategies, health insurance coverage and government-funded educational services are minimal rather than optimal.
Reviewing the progress so far
Only a handful of breakthroughs have stood the test of time since autism was first described by Leo Kanner in 1943. These include the realization that autism is a biological condition (Rimland, 1964); documentation of a genetic contribution (Folstein & Rutter, 1977); the discovery of solid evidence of neurological impairment (Kemper & Bauman, 1985); and the development of behavior therapy (Lovaas, 1987).
Although these were important steps forward, we still know far too little about autism and about how to help individuals on the spectrum. A few months before Dr. Rimland passed away, he shared with me his disappointment that the pressing questions about autism were still unanswered after nearly 50 years of his tireless efforts. Little has changed since we had that conversation.
While there are a number of reasons for this slow progress in autism research, I strongly believe that one of the biggest problems is our failure to prioritize specific research issues common among all areas of study. Fortunately, this is a problem we can solve.
Moving the needle forward
In my opinion, there are four steps we can take immediately to speed the progress of autism research:
- Subtyping autism.
As I have stated many times, the highest priority for the autism research community should be to subtype autism. Accurate subgroupings will allow us to focus our efforts on individuals who are very similar to one another, rather than grouping together a wide spectrum of individuals who differ greatly with regard to their symptoms, their behaviors, and ultimately, their underlying biology.
Researchers have studied autism subtypes over the years, but often they have relied on a limited number of measured characteristics (for instance, brain size, immune factors, medical conditions, or sensory sensitivities) or have examined relatively small numbers of individuals. To speed up subtyping efforts, ARI recently began working on a research project, in collaboration with Droice Laboratories, to determine whether specific subtypes of autism can be accurately defined. Our sample includes more than 40,000 cases that have been documented over a 50-year period.
Once valid subtypes of autism are established, all fields of study can focus their efforts on specific subtypes in order to determine their causes and appropriate treatments.
- Creating and using standardized assessments.
Only a handful of assessment measures have been shown to accurately evaluate individuals on the autism spectrum. Quite a few widely used assessment tools have been validated on neurotypical children and adults or intellectually challenged individuals rather than on individuals with ASD, and some have not been validated at all.
For example, two recent studies examined the impact of gluten-free, casein-free diets on gastrointestinal (GI) issues in individuals with ASD (Gonzalez-Domenech et al., 2020; Piwowarczyk et al., 2020). Both studies found the diets to be ineffective in reducing GI issues. However, the first research team used a non-validated questionnaire to assess GI issues, and the second team relied on the Rome III questionnaire, which has been criticized as insensitive to evaluating GI issues often associated with autism (Gorrindo et al., 2012; Margolis et al., 2019).
Using validated assessments created specifically for individuals with ASD would allow us to better evaluate treatments and make comparisons between them. This would speed the development of effective treatments, while preventing researchers from wasting time and resources exploring less productive avenues.
- Examining factors related to challenging behaviors.
There is an urgent need to find solutions for debilitating problems experienced by the majority of individuals with ASD, such as anxiety, aggression, self-injurious behaviors, and sleep disturbances. Research has clearly documented a relationship between these issues and a number of underlying biological conditions, many of which are highly treatable. (Note: Jane Johnson, a former ARI Board member, and I recently completed a three-book series on multidisciplinary perspectives on anxiety, self-injurious behavior, and sleep disturbances.)
- Integrating different perspectives.
We now know that autism is a holistic condition. It is associated with numerous interactive systems including the nervous, metabolic, immune, gastrointestinal, and sensory systems, in addition to social and executive cognitive processing. It is time for us to explore, through controlled experimentation, how these pieces interconnect.
For instance, oral sensitivities may lead to picky eating. This, in turn, may impact the microbiome and lead to chronic constipation. The internal sensations caused by constipation may be heightened by dysfunctional interoception. This can then lead to anxiety as well as aggression, self-injurious behavior, and sleep disturbances. Separately, researchers have investigated each element in this process; however, they have not integrated their findings into a whole. Viewing issues such as these holistically will give us greater power to address them.
The message for the autism community
It is becoming clear that progress in understanding autism will result not from one “big finding” that answers all questions, but from multiple research threads coming together. Thus, if we truly want to find answers to the questions surrounding autism, we need a well-coordinated effort by all stakeholders in the autism community including those on the spectrum, parents, clinicians, therapists, and researchers.
Moreover, we need to place top priority on the strategies that will have the most benefit for individuals with ASD and their families not decades in the future, but here and now. ARI is actively supporting research based on these strategies, and we hope others in the autism community will join us.
References can be found at ARRIReferences.org.
Stephen M. Edelson, Ph.D.
Executive Director, Autism Research Institute
This editorial appeared in Autism Research Review International, Vol. 35, No. 4, 2021