The future of autism research is now

Every April to mark Autism Awareness and Acceptance Month, my colleagues and I develop outreach activities on autism spectrum disorder (ASD). It’s been particularly exciting this year to get back into the community and partner with new organizations that employ neurodiverse individuals, and I’m reminded of how far we’ve come in our understanding of ASD. We no longer blame parenting styles as causing ASD and accept that it has strong genetic underpinnings; we know that early, intensive behavioral intervention improves children’s developmental outcomes; we acknowledge the clinical heterogeneity in ASD and increasingly appreciate the unique skill sets that neurodiverse individuals bring to the table.

Yet, despite these advances, there is so much more to learn. ASD is a lifelong condition that most often presents during a child’s first two years. Diagnostic delays are the norm rather than the exception; we need evidence-based approaches to significantly decrease the lag between parents’ first concerns and eventual diagnosis, which currently spans an average of two to three years. Although we’ve now identified more than 400 genes considered to be high-confidence, strong-risk genes for ASD, a genetic cause is not yet identified for most affected individuals. Similarly, no consistent biomarkers exist that objectively rule an ASD diagnosis in or out. These lines of research have important implications for understanding the etiological diversity in ASD that, in turn, may guide the development of personalized treatments.

Research takes time, resources and collaboration—not only among professionals but also with affected individuals and their families. It’s the only way that we will find answers to the many questions we all still have. For the past six years, we’ve been a partner in what is now the largest study of autism in history—SPARK. This is an unprecedented effort to identify new causes of ASD that may inform treatments while simultaneously galvanizing the pace of autism research. For investigators, SPARK’s Research Match program can facilitate participant recruitment so that their research questions can be answered faster. And it’s working. The Simons Foundation, which sponsors SPARK, recently published its five-year progress report, highlighting significant accomplishments in just the past few years. And the future of SPARK promises to be even brighter.

So if you or someone you know is affected by ASD, please share with them the importance of participating in research—it’s an opportunity to share their experience, their voice, and shape what we learn about ASD, now and into the future.

-Dr. Robin Kochel, Associate Professor of Pediatrics, Division of Psychology, Director of Research, Autism Program, Meyer Center for Developmental Pediatrics & Autism, Texas Children’s Hospital