Abstract

The topic of this special issue on secondary versus idiopathic autism allows for discussion of how different groups may come to manifest autism spectrum disorder (ASD) or ASD-like symptoms despite important etiological differences. A related issue is that, because many of the social communication deficits that define ASD represent a failure to acquire developmentally expected skills, these same deficits would be expected to occur to some extent in all individuals with intellectual disability (ID). Thus, regardless of etiology, ASD symptoms may appear across groups of individuals with vastly different profiles of underlying deficits and strengths. In this focused review, we consider the impact of ID on the diagnosis of ASD. We discuss behavioral distinctions between ID and ASD, in light of the diagnostic criterion mandating that ASD should not be diagnosed if symptoms are accounted for by ID or general developmental delay. We review the evolution of the autism diagnosis and ASD diagnostic tools to understand how this distinction has been conceptualized previously. We then consider ways that operationalized criteria may be beneficial for making the clinical distinction between ID with and without ASD. Finally, we consider the impact of the blurred diagnostic boundaries between ID and ASD on the study of secondary versus idiopathic ASD. Especially pertinent to this discussion are findings that a diagnosis of ID in the context of an ASD diagnosis may be one of the strongest indicators that an associated condition or specific etiological factor is present (i.e., secondary autism).

Highlights

  • Whereas the rest of this special issue is devoted to specific factors that relate to secondary versus idiopathic autism spectrum disorder (ASD), in this focused review, we discuss a diagnostic concern that cuts across this discussion: When and how should ASD be diagnosed in the presence of intellectual disability (ID) of varying degrees? This discussion is relevant because of the high rate of ID in what is being termed “secondary” or non-idiopathic ASD, similar to what was previously described as “complex” ASD; see Miles et al [1], where specific genetic etiologies are identified as contributing to the manifestation of ASD

  • We focus on the impact of ID on the diagnosis of ASD

  • The other related trend is the increase in research on genetic conditions, many of them previously considered to be disorders associated with ID (e.g., Fragile X Syndrome and Williams Syndrome), where increasingly high rates of ASD features and/or diagnoses are reported [6, 9]

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Summary

Introduction

Whereas the rest of this special issue is devoted to specific factors that relate to secondary versus idiopathic autism spectrum disorder (ASD), in this focused review, we discuss a diagnostic concern that cuts across this discussion: When and how should ASD be diagnosed in the presence of intellectual disability (ID) of varying degrees? This discussion is relevant because of the high rate of ID in what is being termed “secondary” or non-idiopathic ASD, similar to what was previously described as “complex” ASD; see Miles et al [1], where specific genetic etiologies are identified as contributing to the manifestation of ASD. The DSM-5 states that it may be difficult to specify the severity of ID in individuals with sensory impairments due to limitations in administering and interpreting standardized measures in this population [33], but there is no consideration of sensory impairments in the differential diagnosis section pertaining to ASD criteria.

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