Response to Mottron et al. (2023) and Woods et al. (2023).

03Original abstract

We've received two responses to our commentary ‘Autism severity and its relationship to disability’ (Waizbard-Bartov et al., 2023). First, Mottron et al. (2023) express concern that “the ‘profound autism’ category could itself have a detrimental effect on diagnosis and mechanistic research in autism” and that “specifiers might act as confounding variables… and blur diagnostic boundaries”, leading to ignoring the dimension of prototypicality of autistic symptomatology, which Mottron et al view as central to research progress. In support of this point, Mottron et al point out that severity of symptoms can vary over time, that syndromic autism with presumed known biological causes or contributors should be distinguished from nonsyndromic, or familial, autism, and that core (prototypical) signs and symptoms have different mechanisms from additional conditions or specifiers. Mottron et al stress the need to “dissociate prototypicality (how ‘autistic’ the person is) from the level of adaptation (functional impact of core and associated symptoms)”… as “their combination confuses the criteria that allow the recognition of autism as a specific condition”. While we acknowledge these concerns, we nevertheless disagree. These claims rest on the assumption that co-occurring challenges are not a fundamental part of having autism. In Waizbard-Bartov et al. (2023) we argue that due to the high prevalence of co-occurring challenges among autistic individuals, and the significant impact these challenges have on individuals' everyday lives, it is appropriate to consider including them as part of a formal classification system for autism severity. It is the nature of diagnostic classifications to evolve over time as more information is collected and a better sense of the condition is reached. When more autistic individuals are diagnosed with co-occurring anxiety than not (Kerns et al., 2020), should anxiety be considered a co-occurring condition or a fundamental part of having autism contributing to its severity level? Others have argued that motor dysfunction is also so common that it too should be included among the core conditions of autism (Bhat, 2021). To put it in terms suggested by Mottron et al., the “center of the autism category”, as well as its boundaries, are changing as more data about “co-occurring” conditions are accrued. Equally important, Mottron et al. (2023) pointed out the unpredictability of the adaptive outcomes of prototypical phenotypes. In our view, this actually makes mapping trajectories and needs based solely on core symptom presentation and their impacts less relevant. To the extent that predictions or determining current needs based on core symptoms alone are needed, the Calibrated Severity Score on the ADOS is designed to capture the severity of core symptoms, controlling for language and general intellectual level. Finally, the assumption of Mottron et al. (2023) that core and co-occurring symptoms, across the autism spectrum, have different underlying mechanisms, seems to us a questionable proposition and one that will eventually yield to large-scale research. For example, in cases of “profound autism”, it should be investigated and not assumed that the individual's core autism symptoms rests on different underlying mechanisms than their intellectual or language status. Multi-dimensional characterization, such as the “core outcome set” developed by the International Consortium of Health Outcome Measurement (Patient-centered outcome measures, 2022), describes core symptoms, adaptive functioning, sleep, anxiety, other neurodevelopmental disorders, and general quality of life. Such characterization allows researchers to investigate outcomes over time, commonality of underlying mechanisms, and effective treatments and support. In the second letter to the editor, Woods et al. (2023) also argue that broadening the diagnostic category for autism to include co-occurring conditions and support needs could potentially lead to harmful consequences. Their main concern seems to be that of diagnostic overshadowing (attributing “certain experiences or symptoms associated with other conditions” to autism when they are indicative of other conditions). They cite a paper (Smith et al., 2012) describing two cases of nonverbal or minimally verbal autism where diagnoses of Amyotrophic Lateral Sclerosis and Multiple Sclerosis were significantly delayed. This is, of course, a tragic occurrence, especially when treatments to delay or stop disease progression are available. Smith et al describe factors associated with suboptimal medical care for autistic individuals (including physician attitudes, communicative competence in the patients, access to health care, and problem behaviors overshadowing the medical issues). We doubt that anyone would disagree with the proposition that individuals with profound autism, including severe challenges in communication, deserve the same quality of medical care as the rest of the population. Woods et al. also raise the concern that “autistic people who have a co-occurring ‘intellectual’ disability and who are minimally speaking have their co-occurring conditions dismissed as ‘autism’, often with dire consequences”, and “if ‘profound autism’ is realised, at best co-occurring conditions and their associated supports will be missed, at worst it will result in death”. We strongly disagree with this perspective and claim that drawing attention to these needs through the use of the term “profound autism” actually promotes needed support and safety. Clinicians who are knowledgeable about prevalent co-occurring challenges in the autistic population will know to ask about and address additional symptoms and perform thorough medical evaluations, but unfortunately, that is often not the case. People with autism might be affected by frequently co-occurring conditions such as anxiety, seizures or GI problems, or other medical conditions. Clinical care for these conditions is often distributed among various providers (who are not familiar with autism or who do not sufficiently communicate with each other), or even go unrecognized altogether. If, however, these additional challenges were to become part of the formal assessment process for autism, they are less likely to be missed and more likely to be addressed early on, with specific resources put in place to support the individuals' needs. As stated by Mottron et al. (2023), profoundness is dynamic and changes with time. In order for needs to be met through appropriate clinical care, evaluation of autism severity should include the different aspects of symptomatic burden faced by the individual across development. Data sharing is not applicable to this article as no new data were created or analyzed in this study.

Autism research : official journal of the International Society for Autism Research, 2023 · doi:10.1002/aur.2982