Response to "A radical change in our autism research strategy is needed: Back to prototypes" by Mottron et al. (2021).
Stop treating autism as one uniform diagnosis—screen for ESSENCE and let experts pick prototypical cases for cleaner research.
01Research in Context
What this study did
Fein et al. (2021) wrote a reply to Mottron’s call for prototype-based autism studies. They said the field must drop the idea that autism is one thing with one broken part.
The team urged researchers to cast a wider net. Screen for ESSENCE conditions, then let expert clinicians pick the clearest autism cases for study.
What they found
The paper is a position piece, not an experiment. It argues that mixing every DSM-label case into one bucket hides real differences and slows progress.
How this fits with other research
Mottron (2021) made the first prototype plea. Deborah et al. answer with the same year, adding the ESSENCE screen step. The two papers echo each other like direct replications.
Müller et al. (2017) seems to push back. They warn that tossing out the ASD label could stall real-world progress. The clash is only on paper: Deborah wants purer research groups, while Ralph-Axel fears losing the common label that links lab to clinic.
Anonymous (2024) extends the debate. Autistic adults say research should focus on daily life, not just lab purity. Their view lines up with Deborah’s broader ESSENCE lens, both asking researchers to look past narrow check-boxes.
Why it matters
If you run studies or review them, this debate is your cue to check who is in your sample. Swap the wide DSM net for an expert-rated prototype plus ESSENCE screen. Cleaner groups can give clearer treatment signals and cut wasted trials.
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02At a glance
03Original abstract
In the face of the enormous amount of evidence that autism as currently diagnosed can be linked to a wide variety of central nervous system and gene dysfunctions, researchers and funders still try more or less desperately to find a single dysfunction that would provide neurobiological validity for autism. In clinical (including clinical research) practice, the almost religious belief in "autism-specific diagnostic instruments" mixed with the unwarranted claims for early behavioral interventions leading to extremely positive results, has released an avalanche of "specialist" autism diagnostic centers (clinical, private, and clinical research orientated) and a pandemic rise in registered autism prevalence rates. Laurent Mottron eloquently argues for a drastic change to the way individuals with autism should be diagnosed/worked-up in order to qualify for inclusion in research studies. He proposes, it would seem, that two "experts" should decide on who is a prototypical case of autism and include only such cases in high-quality autism research studies. I am very much in favor of leaving the current pathways to autism diagnosis (read the overuse of ADI and ADOS at the expense expert judgment by experienced clinicians), but there are some outstanding issues before we take the road suggested. Unitary models of autism brain or gene dysfunction have not really addressed all the conflicting evidence in the field, and efforts to find a single unifying dysfunction have led the field away from research to explore individual variation and micro-subgroups. As I and others have argued elsewhere, "autism must be taken apart in order to find neurobiological treatment targets" (Waterhouse et al., 2016; Waterhouse & Gillberg, 2014). Many autism (and particularly autism spectrum disorder [ASD]) research projects—as currently designed—have come to the end of the road. The ASD diagnosis can be important for "explaining a child's condition," for psychoeducational purposes, and possibly for assigning a child and family for some non-intensive behavioral—and possibly pharmacological—intervention. But ASD research has not provided anything resembling a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying current ASD-defined samples would be warranted. Several new research strategies are needed. The belief that there is a single defining ASD brain—or gene—dysfunction must be relinquished. Individuals with autism should be diagnosed in the context of a setting where all Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE, Gillberg, 2010, 2021) are considered using relevant screening methods (e.g., Hatakenaka et al., 2017; Kadesjö et al., 2004). Researchers should explore individual variation in gene and brain measures within autism (and cover a whole range of symptoms that are currently believed not to be part of the so-called "spectrum"/ASD). So, I agree wholeheartedly with Laurent Mottron as regards the need to take a new path, but I have some urgent questions regarding his model: 1. Who will be the arbiter in terms of choosing the reliable experts? How many of those can there be in the world? Should there be an internationally approved gallery of experts, and should they be expert in child, adult or both? 2. Do the experts have to agree in order for cases to be included in a study? 3. How should the initial screen be done? What instruments would be appropriate? And, last, but not least 4. How should we proceed with the autism diagnosis in the real clinical world (that does not have top quality research linked to it)? How do we train all the young clinically inexperienced "autism experts" so that they can contribute to the diagnosis of prototypical autism and other ESSENCE?
Autism research : official journal of the International Society for Autism Research, 2021 · doi:10.1002/aur.2547