Stephen M. Edelson, Ph.D.
Autism Research Institute
Fifty years ago, when Dr. Bernard Rimland founded the Autism Research Institute (ARI), he challenged virtually every accepted belief about autism. At a time when most authorities believed that autism stemmed from bad parenting, he stated unequivalocally that parents were in reality their children’s strongest allies. In addition, he made the following assertions—all considered radical at the time:
- The majority of individuals with ASD have one or more co-morbid medical conditions.
- Many “autistic” behaviors are a result of an underlying medical and/or sensory issue.
- Many forms of autism result from an interaction between genes and environmental insults.
These three premises, which we now know to be true, revolutionized research in the field of autism. ARI has been at the forefront of this research, focusing our efforts on uncovering the underlying causes of autism and establishing an evidence-based standard of treatment.
While we are excited by the progress made in the past 50 years, we often pose this question at ARI: “What is the next step?” In my opinion, there are several important areas of research that currently deserve our attention. They include:
Subtyping. Many pioneers in the autism field, including Drs. Leo Kanner and Bernard Rimland, initially focused their efforts on a small group of children referred to as having Kanner’s syndrome or “classical autism.” However, the definition of autism has expanded considerably over the years, and the umbrella phrase “autism spectrum disorder” (or ASD) is now used to refer to many types of individuals who share similarities but who are also quite different in many ways.
There is debate within the autism community as to whether the autism spectrum is a continuum or includes many unique subgroups of individuals. Some argue that if it is a continuum, ADHD marks one end of the distribution and Asperger syndrome marks the other end. With respect to subgrouping, the individuals in each subgroup share many similarities and have few differences.
One possibility is that there is a continuum of individuals with ASD who share a similar genetic vulnerability, and that subgroups reflect different environmental insults. This would lead to unique differences among those with ASD. Furthermore, some variability within each subgroup would be expected based on the timing, amount, and duration of exposure.
This view is consistent with Dr. Mary Coleman’s argument that the autism spectrum reflects separate disease entities, but they all share a common dysfunctional signaling pathways within the central nervous system that leads to similar symptoms and behaviors. It also is consistent with Dr. Manuel’s Casanova’s “triple-hit” hypothesis, which proposes that autism stems from the interaction of a genetic predisposition, an environmental insult, and the time window during brain development when the environmental exigency acts. According to this hypothesis, variability in each or all of these factors could account for the clinical heterogeneity of ASD.
If there truly are subgroups of autism, identifying them will allow researchers to begin studying the underlying cause, prognosis, and most effective treatments for each type of autism. ARI has been working on this for several years, and our preliminary results are encouraging.
Multidisciplinary research. There is now enough scientific evidence for us to state with confidence that autism affects multiple organs and cellular processes including the brain, the gastrointestinal and immune systems via its effects on metabolism. A recent report published by Autism Speaks concludes: “We now know, beyond doubt, that for many people, autism is a whole-body disorder.”
Although most researchers agree that these biological systems are interdependent, little attention has been focused on their interaction. If one of the primary aims of autism research is to uncover the biological underpinnings of autism, multiple organ systems as well as processes need to be investigated simultaneously in the same individuals. Such multifaceted research can be accomplished through better networking among researchers and the establishment of multidisciplinary funding opportunities. ARI has focused much of our attention recently on networking, encouraging, and funding such studies.
Medical and sensory issues associated with challenging behaviors. At ARI we often receive letters and emails from parents who are struggling to find ways to help children who engage in challenging, sometimes devastating behaviors. These include self-injury, aggression, and severe tantrums. Although behavioral and medical interventions can often manage these behaviors, they do not necessarily treat the underlying causes. In addition, medications are often associated with side effects.
For many years Dr. Rimland and I—as well as many others—have argued that challenging behaviors may result from underlying medical and/or sensory issues that lead to discomfort or pain. During their lectures, Drs. Tim Buie and Margaret Bauman often show videos of patients exhibiting severe behaviors. These behaviors are often reduced or eliminated when these patients’ GI symptoms are properly treated.
Interestingly, a group of neurotypical students who were enrolled in a high school criminal science class recently agreed to be pepper-sprayed. Soon after, many of them reacted to the severe pain by exhibiting “autistic-like” behaviors such as hand-flapping, rocking, and posturing. To view a video of their reactions, simply log on to YouTube and search “pepper-sprayed students.”
With respect to sensory issues, many individuals with ASD have difficulty recognizing discomfort or pain resulting from medical problems such as ear infections, stomachaches, and migraine headaches. Sensory processing of internal sensations is referred to as interoception. (See my editorial in ARRI, Vol. 30(4), 2016.) There are at least three different ways in which those on the autism spectrum may process internal sensations in a non-optimal way. With respect to discomfort or pain, these include:
- Experiencing little or no feeling (for instance, exhibiting no response to a ruptured appendix).
- Over-reacting to “normal” levels of discomfort such as a stomachache.
- Feeling that something is wrong, but being unable to pinpoint its location.
ARI is currently collaborating with sensory experts, behavior specialists, and physicians to develop ways to help individuals with ASD recognize and communicate their internal discomfort or pain. I encourage other researchers and organizations to consider studying this important issue.
Sleep. Sleep problems are a major challenge for many individuals with ASD, and quite often disrupt the lives of their family members as well. Based on a recent survey by ARI, common sleep problems include difficulty falling asleep, night waking, waking early, and poor sleep quality. Unfortunately, only a handful of researchers are studying this quality-of-life issue.
Research shows that sleep issues are often related to gastrointestinal problems. Insufficient sleep may also affect brain development, especially in the childhood years. Given the importance of sleep, more resources should be focused on understanding and treating sleep problems in autism.
Adults/Seniors. Much attention has focused—and deservedly so—on employment, residential settings, and recreational needs for this age group. However, there are other issues that need urgent attention, including medical problems, anxiety, depression, behavioral and sensory challenges, and sexuality.
Dr. Margaret Bauman has often stressed that we need to understand how individuals with autism progress throughout their lifetime. Although this sounds obvious, there are no ongoing longitudinal studies designed to document changes in these individuals’ physiology and behavior beginning in childhood and continuing into their senior years. Such monumental research would provide much insight into many issues, such as prognosis as well as the developmnent of medical co-morbidities and symptoms over time.
Large funding agencies, such as the National Institutes of Health (NIH), the Simons Foundation, and Autism Speaks, play a central role in determining what topics will be funded and thus studied. I hope the areas described above are currently on their radar. Teamwork among researchers and funding agencies will empower us to find the real answers and effective solutions that individuals with ASD and their families desperately need.