Associating neural alterations and genotype in autism and fragile x syndrome: incorporating perceptual phenotypes in causal modeling

J Autism Dev Disord. 2010 Dec;40(12):1541-8. doi: 10.1007/s10803-010-1110-z.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / etiology*
  • Autistic Disorder / physiopathology
  • Brain / physiopathology*
  • Fragile X Syndrome / etiology*
  • Fragile X Syndrome / physiopathology
  • Humans
  • Models, Neurological
  • Nerve Net / physiopathology
  • Perception*
  • Phenotype