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Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century

Abstract

Diagnosis, intervention and support for people with autism can be assisted by research into the aetiology of the condition. Twin and family studies indicate that autism spectrum conditions are highly heritable; genetic relatives of people with autism often show milder expression of traits characteristic for autism, referred to as the Broader Autism Phenotype (BAP). In the past decade, advances in the biological and behavioural sciences have facilitated a more thorough examination of the BAP from multiple levels of analysis. Here, the candidate phenotypic traits delineating the BAP are summarised, including key findings from neuroimaging studies examining the neural substrates of the BAP. We conclude by reviewing the value of further research into the BAP, with an emphasis on deriving heritable endophenotypes which will reliably index autism susceptibility and offer neurodevelopmental mechanisms that bridge the gap between genes and a clinical autism diagnosis.

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Notes

  1. 1.

    In this review, the term ‘autism’ is commensurate with ‘autism spectrum condition’ and includes the sub-categories: autistic disorder, Asperger syndrome and Pervasive development disorder not otherwise specified (DSM-IV).

  2. 2.

    In this review we restrict the discussion of the BAP to studies conducted in the relatives of people with autism.

  3. 3.

    Intellectual Disability (previously referred to as mental retardation, DSM-IV) is most commonly defined by an IQ score equal to or below 70.

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Acknowledgements

Edward Sucksmith is funded by an Open University PhD Studentship, which is a collaboration with the Autism Research Centre (ARC) of Cambridge University, UK. We gratefully acknowledge Dr Payam Rezaie and Dr Antonio Martins-Mourao for their comments on an earlier draft of the review and colleagues at the ARC, Cambridge for their theoretical guidance.

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Sucksmith, E., Roth, I. & Hoekstra, R.A. Autistic Traits Below the Clinical Threshold: Re-examining the Broader Autism Phenotype in the 21st Century. Neuropsychol Rev 21, 360–389 (2011). https://doi.org/10.1007/s11065-011-9183-9

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Keywords

  • Autism
  • Broader autism phenotype
  • Social cognition
  • Phenotypic heterogeneity
  • Endophenotypes