Abstract

BackgroundFace individual identity recognition skill is heritable and independent of intellectual ability. Difficulties in face individual identity recognition are present in autistic individuals and their family members and are possibly linked to oxytocin polymorphisms in families with an autistic child. While it is reported that developmental prosopagnosia (i.e., impaired face identity recognition) occurs in 2–3% of the general population, no prosopagnosia prevalence estimate is available for autism. Furthermore, an autism within-group approach has not been reported towards characterizing impaired face memory and to investigate its possible links to social and communication difficulties.MethodsThe present study estimated the prevalence of prosopagnosia in 80 autistic adults with no intellectual disability, investigated its cognitive characteristics and links to autism symptoms’ severity, personality traits, and mental state understanding from the eye region by using standardized tests and questionnaires.ResultsMore than one third of autistic participants showed prosopagnosia. Their face memory skill was not associated with their symptom’s severity, empathy, alexithymia, or general intelligence. Face identity recognition was instead linked to mental state recognition from the eye region only in autistic individuals who had prosopagnosia, and this relationship did not depend on participants’ basic face perception skills. Importantly, we found that autistic participants were not aware of their face memory skills.LimitationsWe did not test an epidemiological sample, and additional work is necessary to establish whether these results generalize to the entire autism spectrum.ConclusionsImpaired face individual identity recognition meets the criteria to be a potential endophenotype in autism. In the future, testing for face memory could be used to stratify autistic individuals into genetically meaningful subgroups and be translatable to autism animal models.

Highlights

  • Face individual identity recognition skill is heritable and independent of intellectual ability

  • Impaired face individual identity recognition meets the criteria to be a potential endophenotype in autism

  • Prosopagnosia is more common in autism than in controls We found that prosopagnosia was more common in autism: 36% of AUT met the clinical cut-off for prosopagnosia, while this was the case for only 6% of neurotypical controls (NT)

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Summary

Introduction

Face individual identity recognition skill is heritable and independent of intellectual ability. Weaknesses of many endophenotypes proposed so far include the unknown prevalence in autism or relevance to a small subgroup of autistic individuals [15, 21, 22], reduced proximity to gene action (i.e., being under genetic influences of unknown or small effect sizes that are comparable to those of autism itself) [23], unknown or high genetic complexity [14, 24], lack of known or envisaged neurobiological bases [13], and limited translatability to animal models [12, 14, 23] Such weaknesses are not specific to autism endophenotype literature but apply to endophenotypes of psychiatric conditions in general [25,26,27]. Individual identity recognition (IIR) could be a potential new autism endophenotype devoid of most of the weaknesses described above

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