Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes

John N. Constantino

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


A recent generation of family studies has revealed that autism can be predicted from an array of neurobehavioural susceptibilities that are appreciable before the syndrome is diagnosed, and that each may be traceable to partially-independent sets of genetic variation. Some of these liabilities are not necessarily specific to ASD—those that are non-specific could account fo. significant share of the ‘missing heritability’ of autism, would (by definition) contribute to pleiotropy, and relate to so-called ‘co-morbidities’, which are inappropriately named if they actually contribute to (or exacerbate) the severity of autism itself. Linking genetic variants to these underlying traits rather than t. diagnosis of ‘autism’ may be more productive in devising personalized approaches to developmental intervention, especially if autism represents an epiphenomenon of earlier-interacting susceptibilities. In this article, the implications of conceptualizing autism a. syndrome of neurobehavioural degeneration is considered, predicated on the notion that it can arise fro. critical co-aggregation of earlier-interacting neuropsychiatric liabilities, the phenotypic expression of which—importantly—can be moderated by sex.

Original languageEnglish
Pages (from-to)18-24
Number of pages7
JournalInternational Review of Psychiatry
Issue number1
StatePublished - Jan 2 2018


  • Autism spectrum disorder
  • development
  • endophenotype
  • genetics
  • personalized medicine


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