History of Autism Science and Research
In 1943, Leo Kanner published the first paper describing autism. For the next two decades, against the backdrop of Freudian theories pervasive at the time, researchers in the autism field attributed the condition to “cold parenting.” In 1959, Dr. Bernard Rimland’s son, Mark, was diagnosed with autism. Rimland, ARI’s founder, searched tirelessly for ways to help his son and read every article published on autism to that time. He quickly realized the field was blaming parents for causing autism in their children despite a lack of scientific evidence for a psychogenic theory. In 1964 he published his seminal book, Infantile Autism: The Syndrome and its Implications for a Neural Theory of Behavior, where he argued that autism results from complex interactions between genetics, neurology, and the environment.
“Infantile Autism exposed illogical assumptions about the underlying cause of autism that had been accepted by the professional community. As a result of Dr. Rimland’s hard work and perseverance, the autism field was placed on a science-based track.”
~ Bernard Rimland’s ‘Infantile Autism’: The Book that Changed Autism, 2014
Rimland’s pivotal book ushered in a new era of autism science and research focusing on biomedical causes and treatments. His work and that of other pioneering researchers like Ivar Lovaas, Lorna Jean King, Jean Ayres, Lorna Wing, Uta Frith, Mary Coleman, Ed Ritvo, and Mildred Creak led to significant advances in our understanding of biological, behavioral, and sensory issues in autism. The first widely accepted diagnostic criteria were established in 1961 by the British Working Group and consisted of a list of observable symptoms and behaviors required for a formal autism diagnosis. In 1980, the American Psychiatric Association published the first specific definition of autism in the Diagnostic and Statistical Manual (DSM-IIIR). The definition was later updated in the DSM-V (2013).
Over the past few decades, we have learned that autism is a complex and interconnected holistic condition. This understanding allows autism science and research to constantly explore new and exciting fields of study. Drs. Rimland and Edelson realized early on that, due to the interconnectedness and holistic aspects of autism, accurate assessments, insightful research, and successful treatments require a multidisciplinary approach. To bring the multidisciplinary perspective to center stage, Dr. Rimland and Dr. Edelson published the Autism Treatment Evaluation Checklist (ATEC) in 1999. The ATEC is now one of the most widely used assessment tools and can be administered by parents, researchers, schools, clinics, and insurance companies.
“The checklist is designed to evaluate the efficacy of treatments as well as to monitor how an individual progresses over time…[and] contains a total of 77 questions that are classified into four subscales: Speech/Language/Communication, Sociability, Sensory/Cognitive Awareness, and Physical/Health/Behavior.”
~ ATEC: Development and Application, 2016
Autism Science and Research Today
Contemporary autism research focuses on genetics, neurology, metabolism, behavior, gastrointestinal (GI) system, immunology, anxiety, cognition, social interaction, sensory processing, sleep disturbances, and more. While great strides have been made in our understanding of independent fields, there is a notable lack of coordinated cross-discipline work. This shortage is partly due to differing views on research and treatments held by organizations, funding sources, and individuals within autism communities. Although many individuals with autism receive better treatment than even a decade ago, many remain frustrated with the slow progress in research and the limitations of current interventions.
“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.”
There are many pieces of autism pathology and presentation we are still working to understand. However, one aspect is certain. Several recent large-scale studies and meta-analyses have documented significantly higher rates of medical problems in individuals with autism than in the general population. Hundreds of studies on such medical issues using various sample sizes, assessments, and designs have been published in the past decade. The results “overwhelmingly indicate the presence of several common medical comorbidities in autism.” These medical problems often include substantial impairments in the immunological, metabolic, and/or GI systems. Comorbidities frequently associated with autism include anxiety, depression, sensory difficulties, sleep problems, allergies, hyperactivity, irritability, inattention, GI difficulties, and obesity. Most of these medical problems are highly related to challenging behaviors.
“Given the frequent association of medical symptoms with autism, standardized diagnostic assessments (e.g., ADOS-2, ADI-R) and medical evaluations (conducted by pediatricians) should address these common symptoms. If any medical comorbidity is suspected, standard practice should include a referral to a specialist.”
~ Large Scale Studies in Autism: What do they Show?, 2019
Diagnosis and Assessments Today
Although our definition and understanding of autism have progressed, the heterogeneity of autism phenotypes and lived experiences makes creating universally inclusive assessments challenging. Some diagnostic assessments lack validity (accuracy) and reliability (consistency) across large and diverse sample sizes. For example, the Modified Checklist for Autism in Toddlers (M-CHAT) is widely accepted as a valid screening assessment for children 16 – 30 months. However, a recent study in Pediatrics found that more than 60% of children were not correctly screened for autism. They also found that females and children of color were often not appropriately screened, especially in low-income families. These findings support numerous published studies that document the under-representation of autism in these groups.
Researchers also use assessments to determine the incidence of symptoms, behaviors, and conditions (SBC) and to monitor changes over time, especially before and after treatments. Assessments are selected based on cost, difficulty, and time required, so clinicians and researchers do not always rely on the same assessments for patient evaluations. In fact, the vast number of mixed findings within autism research and evaluation is partly due to the use of different assessments and measures. It is important to understand that all assessments are not equally sensitive when measuring the same SBC.
One exciting and rapidly growing field of study related to assessments is biomarkers. Biomarker research aims to “identify specific biological impairments that are highly correlated with autism.” We cannot assume that one biomarker or screening tool can effectively assess the entire autism spectrum. However, biomarkers may have the potential to help us identify autism subgroups and eventually be used in formal diagnosis.
“We have come a long way since Kanner’s first description of autism, but as the results of the MCHAT study show, we still have a long way to go to reach the goal of diagnosing all individuals with autism as quickly and accurately as possible.“
~ Diagnosis and Screening for Autism: Past, Present, and Future, 2019
The Future of Autism Science, Research, and Assessments
Dr. Edelson speaks to the hopeful future of autism science, research and treatments throughout his editorials. In line with the objectives of ARI and the legacy of Dr. Rimland, Dr. Edelson constantly emphasizes the need for more multidisciplinary research and collaborations. Because autism is a holistic condition associated with many interactive systems within the body, it is necessary for us to explore how these pieces interconnect. We must now integrate elements of autism previously investigated separately into a whole.
Setting collective priorities for the future of autism research is paramount to accomplishing such goals. Dr. Edelson presents four steps that researchers, organizations, and individuals can take immediately to speed the progress of autism research and “move the needle forward.”
1) Subtype autism
Subtyping autism will allow clinicians, practitioners, and researchers to focus efforts on groups of individuals who are similar instead of an entire spectrum with varying presentation, pathology, and underlying biology. Successful subtyping could catapult our understanding and implementation of screenings, diagnosis, assessments, and treatment options.
2) Create and use standardized assessments
As mentioned before, only a few assessments have been shown to evaluate individuals with autism effectively. Using a standard battery of assessments specific to individuals with autism would speed the development of effective treatments and prevent the exploration of less productive avenues. Though it will be challenging to narrow down the most reliable, valid, and correct assessments, the results will benefit professionals, organizations, and individuals across the autism community.
“Clearly, developing a standard battery of tests will take significant time and effort. However… it is definitely a “doable” undertaking. Such an initiative can be successful if it is supported by the medical, scientific, and autism communities.”
~ Needed: A Standard Battery of Assessments, 2020
3) Examine factors related to challenging behaviors
Most individuals with autism experience debilitating problems like anxiety, self-injurious behaviors, and sleep disturbances. There is clear documentation of a relationship between treatable underlying biological conditions and these issues. Thus examining these factors more closely will help find solutions for individuals suffering today.
4) Integrate different perspectives
Stakeholders in the autism community (including individuals on the spectrum, clinicians, researchers, parents, and therapists) supply a melting pot of lived experiences and points of view. The field of autism science is bursting with exciting studies and hopeful findings. Despite this wealth of knowledge, significant advances in effective treatments and critical understandings of autism are few in number. However, now that we understand autism as a complex holistic condition, the future can only be realized through collaboration and interconnected knowledge exchanges.
“Viewing [these topics] holistically will give us greater power to address them”
~ Setting Priorities for Autism Research, 2021
Since its founding in 1967, ARI has supported multidisciplinary research and information exchange. Rimland and Edelson have produced books and papers, organized conferences and think tanks, and activated cross-discipline discussions. Today, ARI produces free expert webinars, continuing education certificates (in collaboration with multiple clinics), think tanks, and a quarterly science newsletter. Perhaps most importantly, however, ARI has established and maintained global networks to support not only scientific investigation but individuals across the entire autism community via knowledge dissemination and coordinated discussions and collaborations. At its founding, and still today, the primary mission of ARI is to encourage and monitor research across the world and summarize the most relevant findings to distribute to global network members (researchers and parents).
By ensuring all stakeholders have access to the most essential and contemporary information, Dr. Edelson and ARI believe autism researchers, advocates, and individuals will be able to learn how to speak with “one voice.” Then, and only then, will we be able to create an effective and inclusive standard of care for all individuals with autism across their lifetimes. If Dr. Rimland taught us anything, it is that one dedicated person, group, or organization can have the power to “ignite a rally” across the autism community.
“The Autism Research Institute encourages active members of the autism community to work together to develop and implement a strategic plan. The sooner the better! Let’s stop sitting back and waiting for an elusive “magic moment,” and start actively planning a highway to the future.”
~ Planning for the Future of Autism Research, 2022
The time is now. The future is here. Together we can pave the way to understanding the autism spectrum and determining a standard of care for all individuals on the autism spectrum.