"For now, there is a reluctant coexistence with the fiction of 'autism,'
but all signs point to an eventual breakup."
An overview of two of the days packed with presentations. by Jill Escher
Last week I had the good fortune to attend the International Meeting for Autism Research (IMFAR), which for the first time was held right here in San Francisco. I participated wearing many hats: as a pre-conference presenter, as a parent advocate, as an event sponsor, as the hypothesizer/funder behind a new study, and even as a roving reporter for the podcast "Autastic."
The conference was huge, with about 2,300 registrants and countless hundreds oral sessions, special meetings and posters. At best one can only glimpse a slice of overall contents, with subjects ranging from novel genetic discoveries to neuroscience, from epidemiology to early detection, from sensory processing to suitable employment. After taking in as much as I could, I walked away noting a few overarching themes.
Last week I had the good fortune to attend the International Meeting for Autism Research (IMFAR), which for the first time was held right here in San Francisco. I participated wearing many hats: as a pre-conference presenter, as a parent advocate, as an event sponsor, as the hypothesizer/funder behind a new study, and even as a roving reporter for the podcast "Autastic."
The conference was huge, with about 2,300 registrants and countless hundreds oral sessions, special meetings and posters. At best one can only glimpse a slice of overall contents, with subjects ranging from novel genetic discoveries to neuroscience, from epidemiology to early detection, from sensory processing to suitable employment. After taking in as much as I could, I walked away noting a few overarching themes.
1. The unifying principle is disunity
"Pure garbage" is how one researcher described to me the idea of ASD as a single entity, echoing a refrain heard throughout the conference. The theme actually kicked off with keynote speaker Pat Levitt's first slide emphasizing how even Leo Kanner himself, who described autism in 1943, saw autism as highly diverse. Levitt's talk about the complexity of neurodevelopment was meant to help nudge the field away from a "one size fits all" approach. And the conference ended, in one oral session at least, with a description of the vastly varied genomic glitches (more than 200) that seem to increase risk for ASD.
"Pure garbage" is how one researcher described to me the idea of ASD as a single entity, echoing a refrain heard throughout the conference. The theme actually kicked off with keynote speaker Pat Levitt's first slide emphasizing how even Leo Kanner himself, who described autism in 1943, saw autism as highly diverse. Levitt's talk about the complexity of neurodevelopment was meant to help nudge the field away from a "one size fits all" approach. And the conference ended, in one oral session at least, with a description of the vastly varied genomic glitches (more than 200) that seem to increase risk for ASD.
Pat Levitt's opening slide.
Honoree Alison Singer with INSAR president Geraldine Dawson. Between these points, Advocate of the Year honoree Alison Singer of the Autism Science Foundation delivered an impassioned speech decrying the current fashion for over-lumping such staggeringly different neurodevelopmental disabilities under one word. "Autism used to mean something," she said, "but today the word autism is so broadly applied that it is practically meaningless. Autism can mean genius level IQ or IQ below 50. Autism can mean highly verbal or nonverbal. It can mean graduating from Harvard Law School, or 'exiting' high school with a certificate of attendance. It can mean self injury, sleep disorders, aggression, pica, wandering, biting, or not."
The absurdity of a single "autism" was abundantly clear to IMFAR's Lifetime Achievement Award honoree, the legendary Mary Coleman, MD. Citing state-of-the-art science, she stressed that autism is simply "not valid as a diagnosis," but rather is nothing more than some "overlapping clinical presentations" for myriad different biological conditions with different etiologies (causes) and processes and outcomes (and, one hopes someday, treatments).
The absurdity of a single "autism" was abundantly clear to IMFAR's Lifetime Achievement Award honoree, the legendary Mary Coleman, MD. Citing state-of-the-art science, she stressed that autism is simply "not valid as a diagnosis," but rather is nothing more than some "overlapping clinical presentations" for myriad different biological conditions with different etiologies (causes) and processes and outcomes (and, one hopes someday, treatments).
"Autism used to mean something, but today the word autism
is so broadly applied that it is practically meaningless."
is so broadly applied that it is practically meaningless."
Lifetime Achievement Award honoree Mary Coleman and yours truly.
Other researchers also did not flinch at predicting the downfall of the diagnostic concept of autism. P Wang of Yale, a fast-talking discussant in a session on genomics, wryly stated that the unifying theme in autism genomics is "disunity" and that "autism is a Snapchat diagnosis, it's going to disappear."
The disunity has profound implications for research. Last year's IMFAR included an interest group led by researcher Eric London, who with colleagues recently published a paper on the lack of "construct validity" in autism, questioning the utility of this denominator in research and treatment. Singing that tune this year, several sessions highlighted how causation, prevalence, and outcome vary sharply depending on how one defined autism in the first place.
Autism with ID? Without ID? What about low ID but hovering over the arbitrary cutoff of 70? What about comorbid ADHD or mental illness? What about severe behaviors? And why, some researchers acknowledged, do we consider those as "co-morbidities" anyway when they are really just expressions of underlying neurobiological malfunctions that cannot be disaggregated and overlap quite grandly?
Speaking about growing research advocacy around identified mutations, Jon Spiro of the Simons Foundation stated that there are "very profound differences in the biology of autism depending on the genetic etiology." In terms of neurobiological impairment, the heterogeneity is likewise vast, Jerzy Weigel for example discussed the wide variety of deficits in long-range connectivity in autism brains, while others discussed impairments as varied as abnormal synaptic function, impaired development of brain regions such as the amygdala and/or cerebellum, and many more. The varied clinical presentations discussed included those who are nonverbal with "externalizing" behaviors such as aggression and self-injury, and also those who are entirely different, with intact cognition but sensory dysfunction and social anxieties.
The disunity has profound implications for research. Last year's IMFAR included an interest group led by researcher Eric London, who with colleagues recently published a paper on the lack of "construct validity" in autism, questioning the utility of this denominator in research and treatment. Singing that tune this year, several sessions highlighted how causation, prevalence, and outcome vary sharply depending on how one defined autism in the first place.
Autism with ID? Without ID? What about low ID but hovering over the arbitrary cutoff of 70? What about comorbid ADHD or mental illness? What about severe behaviors? And why, some researchers acknowledged, do we consider those as "co-morbidities" anyway when they are really just expressions of underlying neurobiological malfunctions that cannot be disaggregated and overlap quite grandly?
Speaking about growing research advocacy around identified mutations, Jon Spiro of the Simons Foundation stated that there are "very profound differences in the biology of autism depending on the genetic etiology." In terms of neurobiological impairment, the heterogeneity is likewise vast, Jerzy Weigel for example discussed the wide variety of deficits in long-range connectivity in autism brains, while others discussed impairments as varied as abnormal synaptic function, impaired development of brain regions such as the amygdala and/or cerebellum, and many more. The varied clinical presentations discussed included those who are nonverbal with "externalizing" behaviors such as aggression and self-injury, and also those who are entirely different, with intact cognition but sensory dysfunction and social anxieties.
Many presentations discussed autism's many psychiatric and medical co-morbidities.
Frankly, IMFAR felt like 100 conferences in one, with only the most tenuous of strings holding us all together. For now, there is a reluctant coexistence with the fiction of "autism," but all signs point to an eventual breakup.
2. Significant strides in underlying biology, but not causation
In spite of the crazy stew of biological and functional realities that we call "autism," I was struck by how far we've come in understanding the conditions since the dawn of the mysterious autism surge in the 1980s. With diminishing returns in the examination of autism exomes (that 1.5% of the genome that codes for proteins), some researchers are making early headway in looking at regulatory parts of the genome and epigenome (for example, the genomic modifier of DNA methylation). A Munoz Jimenez from Cold Spring Harbor Laboratories presented data on the Simons Simplex Collection suggesting that half of those autism cases resulted from a wide variety of de novo germline mutations. C E Mourdant from UC Davis shared information suggesting that cord blood from autism newborns exhibited different methylation signatures, indicating that mechanisms of global gene expression seem to be awry in autism. These trends mining the autism genome for more and more molecular information are heartening.
On the causation front, I didn't learn much new to be honest (hey, the poster showing no association between maternal height and autism disappointed the five-foot-tall me), but I did have the privilege of helping to present a poster on a UK study I funded finding a link between grandmaternal pregnancy smoking and increased risk of autism and autism-related traits in grandchildren. Talking with epidemiologists from around the world about my multigenerational work was the highlight of IMFAR for me. As epidemiologist Craig Newschaffer commented, the autism field tends to have a "low-hanging fruit problem," meaning that researchers focus on the easier questions (yet another parental age study, anyone?) to the exclusion of some of the thornier exposure issues.
2. Significant strides in underlying biology, but not causation
In spite of the crazy stew of biological and functional realities that we call "autism," I was struck by how far we've come in understanding the conditions since the dawn of the mysterious autism surge in the 1980s. With diminishing returns in the examination of autism exomes (that 1.5% of the genome that codes for proteins), some researchers are making early headway in looking at regulatory parts of the genome and epigenome (for example, the genomic modifier of DNA methylation). A Munoz Jimenez from Cold Spring Harbor Laboratories presented data on the Simons Simplex Collection suggesting that half of those autism cases resulted from a wide variety of de novo germline mutations. C E Mourdant from UC Davis shared information suggesting that cord blood from autism newborns exhibited different methylation signatures, indicating that mechanisms of global gene expression seem to be awry in autism. These trends mining the autism genome for more and more molecular information are heartening.
On the causation front, I didn't learn much new to be honest (hey, the poster showing no association between maternal height and autism disappointed the five-foot-tall me), but I did have the privilege of helping to present a poster on a UK study I funded finding a link between grandmaternal pregnancy smoking and increased risk of autism and autism-related traits in grandchildren. Talking with epidemiologists from around the world about my multigenerational work was the highlight of IMFAR for me. As epidemiologist Craig Newschaffer commented, the autism field tends to have a "low-hanging fruit problem," meaning that researchers focus on the easier questions (yet another parental age study, anyone?) to the exclusion of some of the thornier exposure issues.
Manning a poster with researcher Dheeraj Rai of the University of Bristol.
3. Hello, see that dark and ominous cloud above our heads?
I'll wrap up with no small amount of pain. Let's face it, there's an unnerving disconnect between the harsh, even panic-inducing, realities often faced by the growing number of autism families and the research and mood on display at IMFAR. Hardly anyone in this cavernous conference in California seemed to be aware that our state now counts 93,000 cases of severe autism in our developmental services system, up from about 2,000 in about 1980, or that our adult system is on the verge of collapse, crushed by growing caseloads and stagnant funding, or that fully 1.5% of live-born boys in our state now go on to develop more severe (developmental services) forms of autism, a truly catastrophic statistic given the lifespan costs of autism. Families seeing no roadmap for their grown autistic children are panicking. They need a sense of urgency from the research community to fuel innovation and solutions. That sense of urgency, however, was notably lacking at IMFAR.
I'll wrap up with no small amount of pain. Let's face it, there's an unnerving disconnect between the harsh, even panic-inducing, realities often faced by the growing number of autism families and the research and mood on display at IMFAR. Hardly anyone in this cavernous conference in California seemed to be aware that our state now counts 93,000 cases of severe autism in our developmental services system, up from about 2,000 in about 1980, or that our adult system is on the verge of collapse, crushed by growing caseloads and stagnant funding, or that fully 1.5% of live-born boys in our state now go on to develop more severe (developmental services) forms of autism, a truly catastrophic statistic given the lifespan costs of autism. Families seeing no roadmap for their grown autistic children are panicking. They need a sense of urgency from the research community to fuel innovation and solutions. That sense of urgency, however, was notably lacking at IMFAR.
"Families seeing no roadmap for their grown autistic children are panicking. They need a sense of urgency from the research community to fuel innovation and solutions. That sense of urgency, however, was notably lacking at IMFAR."
DDS autism prevalence used to be 1 in 1,000. Now it's 1 in 100. (Source: California Dept. of Public Health)
Yes, I understand that IMFAR is a platform for sharing ideas and discoveries, to learn from each other and forge new collaborations. With that as a metric, it's a smashing success. But the flurry of small research successes still felt like so many band-aids on a huge, gaping wound.
Incremental gains are important, yes. But as I said in my pre-conference panel remarks, "All the research in the world means nothing if we can't fix the mounting adult autism crisis."
Incremental gains are important, yes. But as I said in my pre-conference panel remarks, "All the research in the world means nothing if we can't fix the mounting adult autism crisis."
Jill Escher is president of Autism Society San Francisco Bay Area, the founder of the Escher Fund for Autism, a housing provider for adults with autism and DD, and the mother of two children, ages 11 and 18, with nonverbal autism.
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