Basic research into genetics, environmental factors, and other biological contributors to autism over the past 30 years has given us a far deeper understanding of neurodevelopment and how differences in brain structure and function underlie behavior. But I often hear people in the autism community question the value of this research, because what we have learned has not always translated into more actionable interventions or services. As an autistic person who is also an autism researcher, I understand and sympathize with that frustration.
While basic research into autism has not produced as much tangible improvement in the lives of autistic people as we had hoped, the knowledge generated by this work has hopefully set the stage for future discoveries with a greater degree of clinical impact. At the same time, funding organizations like the National Institute of Mental Health are realizing the importance of more applied research on behavioral treatments, service provision, and implementation science that will provide real and tangible benefits for autistic individuals in the here and now.
The common denominator in advancing autism science in its various forms and accelerating meaningful discoveries is participation. We desperately need autistic people and their families to become active participants in research studies that seek to better understand autism and the experiences of autistic people. I can say that because I do it myself.
To date, I have participated in numerous studies that examined genetics and autism, and explored topics including rhythm perception, mental health, social cognition, language and communication, the genetic basis of sensory differences, and the impact of the COVID-19 pandemic on the autistic community. Whenever I read an academic paper that used data I contributed, I am delighted to know that I can use my own lived experiences to help others better understand autism. Participating in research studies has also taught me a lot about myself, helping me to recognize many of my own strengths and weaknesses, bringing to light the relationships between my cognitive style and my eating disorder, and allowing me to reflect on my past experiences in ways that I hadn’t before.
The opportunity to contribute to all these studies came through Spark Research Match, an autism research database that has collected DNA samples from nearly 100,000 autistic people, their siblings, and biological parents. These samples are individually and collectively analyzed to develop deeper insight into the genetic changes that contribute to autism, co-occurring medical and mental health conditions, and the many ways in which autistic people differ from each other. Because of this enormous sample size, the research offers scientists the opportunity to find clinically meaningful subgroups of autistic people based on their specific patterns of genetic changes. Already, specific genetic diagnoses affect medical care, allowing patients and families to have better prognostic information and figure out whether someone should be screened for common co-occurring conditions that are likely to accompany a particular genetic diagnosis.
These data offer an opportunity for secondary data analyses, data collected for one study could be combined with data collected in another study and used to answer questions that may not have occurred to the original research team. Over time, existing data can also be combined with even more information from future studies, allowing researchers to answer questions about how autistic people develop over long periods of time.
I was fortunate enough to receive my autism diagnosis at the age of 4, and this early diagnosis was extremely helpful in allowing me to receive the services and support I needed to succeed academically and socially. Though I have known that I was autistic for much of my life, it was only in college, after beginning to learn about autism in an academic context, that I truly understood what my diagnosis meant and how central being autistic was to my identity. As an undergraduate studying psychology and neuroscience at Yale, I took a class on autism through the Yale Child Study Center. The course offered a multi-disciplinary perspective on autism that included history, clinical features, diagnostic assessments, neuroscience, education, genetics, behavioral intervention, and the experiences of autistic adults and caregivers.
Complementing my personal experience as an autistic person, the topics allowed me to gain new perspectives on some of the ways I thought and acted, giving me a far deeper understanding of myself and my autism than ever before. This experience led me to pursue a career in clinical and translational autism research, seeking to integrate my academic understanding of autism with my lived experience to better understand the neurobiology of autism and work toward improving clinical care for other autistic people.
There are many questions yet to be answered about autism, neurodevelopment, and the complex biological and psychological factors that influence autistic people’s lives. Though basic research into autism may take time before it translates into tangible benefits, the answers from basic biological and psychological studies of autism can certainly help inform the development of better interventions, supports, and accommodations so that autistic people can live their best possible lives. I am confident that, 30 years from now, we will be able to look back at this era of basic and applied autism research and be proud of the knowledge and solutions that it produced. But we will only get these answers if we actively participate in the science.