Abstract

BackgroundWhile models of autism spectrum conditions (ASC) are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking. Here we examine agenesis of the corpus callosum (AgCC) as a model at the level of neuroanatomy that may be relevant for understanding self-referential and social-cognitive difficulties in ASC.MethodsWe examined performance on a wide array of tests in self-referential and social-cognitive domains in a patient with both AgCC and a diagnosis of ASC. Tests included a depth-of-processing memory paradigm with self-referential and social-cognitive manipulations, self-report measures of self-consciousness, alexithymia, and empathy, as well as performance measures of first-person pronoun usage and mentalizing ability. The performance of the AgCC patient was compared to a group of individuals with ASC but without AgCC and with neurotypical controls. These comparison groups come from a prior study where group differences were apparent across many measures. We used bootstrapping to assess whether the AgCC patient exhibited scores that were within or outside the 95% bias-corrected and accelerated bootstrap confidence intervals observed in both comparison groups.ResultsWithin the depth-of-processing memory paradigm, the AgCC patient showed decreased memory sensitivity that was more extreme than both comparison groups across all conditions. The patient’s most pronounced difficulty on this task emerged in the social-cognitive domain related to information-processing about other people. The patient was similar to the ASC group in benefiting less from self-referential processing compared to the control group. Across a variety of other self-referential (i.e. alexithymia, private self-consciousness) and social-cognitive measures (i.e. self-reported imaginative and perspective-taking subscales of empathy, mentalizing), the AgCC patient also showed more extreme scores than those observed for both of the comparison groups. However, the AgCC patient scored within the range observed in the comparison groups on measures of first-person pronoun usage and self-reported affective empathy subscales.ConclusionsWe conclude that AgCC co-occurring with a diagnosis of ASC may be a relevant model at the level of neuroanatomy for understanding mechanisms involved in self-referential and high-level social-cognitive difficulties in ASC.

Highlights

  • While models of autism spectrum conditions (ASC) are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking

  • We focus on agenesis of the corpus callosum as one model at the level of neuroanatomy for dissecting aspects of self-referential and social-cognitive difficulties in autism

  • The conditions with the largest deficits in performance were in social-cognitive conditions (Friend and Potter), whereas more subtle deficits were apparent across Self and Syllable conditions

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Summary

Introduction

While models of autism spectrum conditions (ASC) are emerging at the genetic level of analysis, clear models at higher levels of analysis, such as neuroanatomy, are lacking. We examine agenesis of the corpus callosum (AgCC) as a model at the level of neuroanatomy that may be relevant for understanding self-referential and social-cognitive difficulties in ASC. Research on non-syndromic forms of autism show that many simplex cases (up to 10% to 20%, but possibly more) possess de novo mutations in segments of DNA (i.e. deletions and/or duplications) presented as copy number variations [2,3,4] This has resulted in the idea that there may be many types of autism arising from a complex combination of many different mechanisms. We focus on agenesis of the corpus callosum as one model at the level of neuroanatomy for dissecting aspects of self-referential and social-cognitive difficulties in autism. Within the social-cognitive domain, we focus on higher-level social-cognitive understanding of others (i.e. mentalizing, empathy), as well as memory for social agents; each of which have been shown to be sensitive to deficits in higher-functioning adults with ASC

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