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Associating Neural Alterations and Genotype in Autism and Fragile X Syndrome: Incorporating Perceptual Phenotypes in Causal Modeling

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Abstract

We have previously described (see companion paper, this issue) the utility of using perceptual signatures for defining and dissociating condition-specific neural functioning underlying early visual processes in autism and FXS. These perceptually-driven hypotheses are based on differential performance evidenced only at the earliest stages of visual information processing, mediated by local neural network functioning. In this paper, we first review how most large-scale neural models are unable to address atypical low-level perceptual functioning in autism, and then suggest how condition-specific, local neural endophenotypes (described in our companion paper) can be incorporated into causal models to infer target candidate gene or gene clusters that are implicated in autism’s pathogenesis. The usefulness of such a translational research approach is discussed.

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Acknowledgments

Supported by funding from a Canadian Institutes of Health Research (CIHR)-Clinical Research Initiative fellowship to AB, a Fonds de la Recherche en Santé du Québec (FRSQ) doctoral scholarship to JH, a CIHR-Canada Research Chair (Tier 1) to KC, a Natural Sciences and Engineering Research Council of Canada discovery grant to CK, and a CIHR Operating Grant to KC and AC.

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Authors and Affiliations

  1. Perceptual Neuroscience Laboratory for Autism and Developmental Conditions, University of Montreal Center of Excellence for Pervasive Developmental Disorders (CETEDUM), Hôpital Rivière-des-Prairies, 7070, boul. Perras, Montréal, QC, H1E 1A4, Canada

    Armando Bertone

  2. Department of Psychiatry, Université de Montréal, Montréal, QC, Canada

    Armando Bertone

  3. McGill Child Laboratory for Research and Education in Developmental Disorders, McGill University, Montréal, QC, Canada

    Julie Hanck & Kim Cornish

  4. School of Psychology, University of Ottawa, Ottawa, ON, Canada

    Cary Kogan

  5. Department of Psychology, McGill University, Montréal, QC, Canada

    Avi Chaudhuri

  6. Centre for Developmental Psychiatry and Psychology, School of Psychology and Psychiatry, Monash University, Melbourne, Australia

    Kim Cornish

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  1. Armando Bertone
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  2. Julie Hanck
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  3. Cary Kogan
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  4. Avi Chaudhuri
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Correspondence to Armando Bertone.

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Bertone, A., Hanck, J., Kogan, C. et al. Associating Neural Alterations and Genotype in Autism and Fragile X Syndrome: Incorporating Perceptual Phenotypes in Causal Modeling. J Autism Dev Disord 40, 1541–1548 (2010). https://doi.org/10.1007/s10803-010-1110-z

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