Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century

Neuropsychol Rev. 2011 Dec;21(4):360-89. doi: 10.1007/s11065-011-9183-9. Epub 2011 Oct 12.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Autistic Disorder / classification*
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics
  • Child
  • Executive Function
  • Genetic Predisposition to Disease
  • Humans
  • Interpersonal Relations
  • Language
  • Neuroimaging
  • Phenotype*
  • Social Behavior
  • Stereotyped Behavior