Using perceptual signatures to define and dissociate condition-specific neural etiology: autism and fragile X syndrome as model conditions.

The functional link between genetic alteration and behavioral end-state is rarely straightforward and never linear. Cases where neurodevelopmental 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).