April is Autism Awareness Month. As a neurogeneticist who works in the field, I believe anything that raises general awareness of what we know about autism — and as importantly, what we don’t — is useful, and potentially much more than that. On a more pragmatic level, I hope that this will lead to increased opportunities for funding and willingness among families to participate in research.
Like many colleagues now in the field, I didn’t set out to work on autism. Twenty years ago, I was a PhD student in a biology department. Students interested in neuroscience generally did research in experimentally tractable model systems such as the nematode worm C. elegans.
As an aspiring geneticist and experimentalist, I wanted no part of the limitations of human research. The complete human genome sequence was still a decade away, and the application of standard genetic models to human disease was just reaching “critical mass” in identification of monogenic disease genes. Neuropsychiatric disorders were poorly understood, diagnostic criteria were changing, and the few published papers on autism genetics were mainly theoretical and expressed widely varying viewpoints.
I became aware of autism 10 years ago. My 3-year-old son’s speech was atypical; he showed striking deficits in expressive language. He had difficulty interacting with other children his age. Grandparents and friends offered their opinions, collectively amounting to “don’t worry, he’ll grow out of it.” Lacking experience and any known family history, I did not worry all that much. My 1-year-old daughter was developing normally, and we had recently moved from an apartment to a ‘fixer-upper’ house to accommodate our growing family, leaving little time to reflect on what might be going on with my son.
Ultimately it took the polite but unwavering urging of the director of the day care center in which my son was enrolled to convince us to seek expert advice. When the diagnosis ultimately came, it was devastating.
Pointing Blame and Finding Reason
The research career in plant genetics in which I’d invested the better part of 15 years fell apart rapidly — it didn’t seem to matter anymore. Sleep became a rare commodity. I developed shingles. Nights were dominated by endless Internet queries. My marriage came under great stress, as my wife and I came to terms with our changing lives and what to do next. And we faced another serious challenge: another pregnancy in mid-term, with another son on the way. Could we afford to have another child? What if he also turned out to be autistic?
We scrutinized our lives to determine possible contributions to autism. I remembered anecdotes from my son’s earlier childhood: a febrile seizure when he’d had a high fever; episodes of hand flapping and toe walking; falling off the sofa once and hitting his head. He’d been unable to sleep without first spending half an hour in a rocking swing when younger. He suffered from moderate but seemingly endless episodes of constipation. He was sensitive to certain loud noises, and didn’t like to make eye contact. He was a picky eater who didn’t like food with certain textures.
It didn’t stop there. Our “new” old house, built in the 1920s, had already undergone significant renovation, potentially releasing clouds of dust from lead-based paint. (Those parts of the house had been effectively isolated, and tests were ultimately negative.) Could it be his diet, rich in grains and processed foods despite our attempts to introduce fruit and vegetables? Too much gluten? A vitamin deficiency? Or was it genetic? My own mother had mentioned that I was a very shy child, as was my identical twin, and that we’d acquired speech relatively late. The first question my twin brother asked when I told him of the diagnosis was, “Were we autistic too?” I had been pondering the same possibility.
When I look back on this period of our lives, I now realize that I was acting as any parent would: desperately searching for answers, and hoping for anything that would lead to a cure. There were many possible explanations for why my son was autistic, as well as treatments based on them. A former scientific colleague, for instance, whose own career had been derailed by the birth of a profoundly autistic child, promoted the use of chelation therapy. But as I began to research the efficacy of such treatment, my scientific training again took hold. I soon realized there was no conclusive evidence that it worked, and actually had clear potential for harm.
Discipline and skepticism returned, and we began to accept the situation. Within a few months, my oldest son was enrolled in a school specializing in developmental disabilities. We noticed rapid and pronounced changes in his behavior and speech. He was soon able to attend the local public school, albeit in special education classes. By the age of 7, he was no longer considered to be within the autistic spectrum. My younger son was ultimately diagnosed with Asperger syndrome, but — drawing on our experience — we sought immediate intervention when he showed signs of developmental delay. I firmly believe this led to a better outcome, as he received intensive behavioral and speech therapies during the critical window of neuroplasticity between the ages of 1 and 4.
So what is the real significance of Autism Awareness Month? For me, it’s now a time to think about what we (and I) have learned over the last decade, and to reflect on my own experience — first as a parent, and then as a researcher who has been fortunate to contribute to important studies in the field. For those affected by autism as well as their families and friends, it’s a time of hope—not the false promises of pseudoscience, but acknowledgment that we have won some hard-earned gains and there will be better outcomes as a consequence. And for the general public, it truly is about awareness: recognizing that autism is common, that we are moving forward, and that the financial, intellectual, and emotional support they can offer is needed, and greatly appreciated
Michael Ronemus, PhD, is a research assistant professor at Cold Spring Harbor Laboratory in Cold Spring Harbor, New York.