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Endophenotype Approach to Developmental Psychopathology: Implications for Autism Research

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Abstract

This paper discusses the utility of the endophenotype approach in the study of developmental psychopathology. It is argued that endophenotype research holds considerable promise for the study of gene-brain/cognition-behaviour pathways for developmental disorders. This paper outlines the criteria for determining useful endophenotypes. Possible endophenotypes for autism are discussed as an example of an area where endophenotype research on developmental disorders may be fruitful. It is concluded that although the endophenotype approach holds promise for the study of gene-brain/cognition-behaviour pathways, much work remains to be done in order to validate endophenotype measures. It is also noted that the changing nature of any developmental psychopathology poses a particular challenge to this type of research.

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Notes

  1. For simplicity’s sake, in this paper we use the singular term gene when referring to gene-behaviour/gene-psychopathology pathways. We note, however, that it is unlikely that most psychopathologies are associated with just a single gene.

  2. Note that we accept that there may be pre-behavioural phenotypes that are not heritable. However, as our paper largely advocates increasing the understanding of gene-behaviour pathways, demonstrating the involvement of genetic influences is crucial.

  3. It is also reasonable to assume direction of causality from behaviour to endophenotype, especially in the context of developmentally changing constructs. However, this relationship would still be limited by the genetic background of the individual. The genetic background probably influences the range of behaviours and individual engages in. It also limits the range of possible endophenotypes and the developmental change that can result from behaviour-endophenotype interactions.

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Authors and Affiliations

  1. Department of Psychology, University College London, Gower Street, London, WC1E 6BT, UK

    Essi Viding

  2. Institute of Cognitive Neuroscience, University College London, 17 Queen Square, London, WC1N 3AR, UK

    Essi Viding & Sarah-Jayne Blakemore

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  1. Essi Viding
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  2. Sarah-Jayne Blakemore
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Correspondence to Essi Viding.

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Viding, E., Blakemore, SJ. Endophenotype Approach to Developmental Psychopathology: Implications for Autism Research. Behav Genet 37, 51–60 (2007). https://doi.org/10.1007/s10519-006-9105-4

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