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Using Perceptual Signatures to Define and Dissociate Condition-Specific Neural Etiology: Autism and Fragile X Syndrome as Model Conditions

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Abstract

The functional link between genetic alteration and behavioral end-state is rarely straightforward and never linear. Cases where neurodevlopmental conditions defined by a distinct genetic etiology share behavioral phenotypes are exemplary, as is the case for autism and Fragile X Syndrome (FXS). In this paper and its companion paper, we propose a method for assessing the functional link between genotype and neural alteration across these target conditions by comparing their perceptual signatures. In the present paper, we discuss how such signatures can be used to (1) define and differentiate various aspects of neural functioning in autism and FXS, and subsequently, (2) to infer candidate causal (genetic) mechanisms based on such signatures (see companion paper, this issue).

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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, Montreal, QC, H1E 1A4, Canada

    Armando Bertone

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

    Armando Bertone

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

    Julie Hanck & Kim Cornish

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

    Cary Kogan

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

    Avi Chaudhuri

  6. Centre for Developmental Psychiatry & Psychology, School of Psychology & 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. Using Perceptual Signatures to Define and Dissociate Condition-Specific Neural Etiology: Autism and Fragile X Syndrome as Model Conditions. J Autism Dev Disord 40, 1531–1540 (2010). https://doi.org/10.1007/s10803-010-1109-5

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