Rethinking Our Concepts and Assumptions About Autism

Abstract

Autism is a clinical consensus diagnosis made based on behavioral symptoms of early developmental difficulties in domains of social-communication (SC) and restricted repetitive behaviors (RRB). Many readily assume that alongside being optimal for separating individuals based on SC and RRB behavioral domains, that the label should also be highly useful for explaining differential biology, outcomes, and treatment (BOT) responses. However, we also now take for granted the fact that the autism population is vastly heterogeneous at multiple scales, from genome to phenome. In the face of such multi-scale heterogeneity, here we argue that the concept of autism along with the assumptions that surround it require some rethinking. While we should retain the diagnosis for all the good it can do in real-world circumstances, we also call for the allowance of multiple other possible definitions that are better tailored to be highly useful for other translational end goals, such as explaining differential BOT responses.

Keywords: autism; diagnosis; heterogeneity; precision medicine; subtype.

FIGURE 1

Highlighting the 1987 breakpoint of the change to DSM-III-R criteria. Before DSM-III-R, intellectual disability and early language issues were common key features. Even Rutter’s early opinions were that language was primary or core to autism. The change from monothetic to polythetic criteria in DSM-III-R changed all of this, since it allowed for individuals to be diagnosed without those kinds of issues. Over time, features such as intellectual disability and early language issues were filtered out altogether in the DSM-5 diagnostic criteria and are now used as specifiers. Star indicates one of the monothetic criteria regarding language.