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Background  Behavioral phenotypical continua from health to disease suggest common underlying mechanisms with quantitative rather than qualitative differences. Until recently, autism spectrum disorders and schizophrenia were considered distinct nosologic entities. However, emerging evidence contributes to the blurring of symptomatic and genetic boundaries between these conditions. The present study aimed at quantifying behavioral phenotypes shared by autism spectrum disorders and schizophrenia to prepare the ground for biological pathway analyses.    Methods  Specific items of the Positive and Negative Syndrome Scale were employed and summed up to form a dimensional autism severity score ( PAUSS ). The score was created in a schizophrenia sample (N = 1156) and validated in adult high-functioning autism spectrum disorder (ASD) patients (N = 165). To this end, the Autism Diagnostic Observation Schedule (ADOS), the Autism (AQ) and Empathy Quotient (EQ) self-rating questionnaires were applied back to back with the newly developed  PAUSS.Results   PAUSS  differentiated between ASD, schizophrenia and a disease-control sample and substantially correlated with the Autism Diagnostic Observation Schedule. Patients with ADOS scores ≥12 obtained highest, those with scores <7 lowest  PAUSS  values. AQ and EQ were not found to vary dependent on ADOS diagnosis. ROC curves for ADOS and  PAUSS  resulted in AuC values of 0.9 and 0.8, whereas AQ and EQ performed at chance level in the prediction of ASD.    Conclusions  This work underscores the convergence of schizophrenia negative symptoms and autistic phenotypes.  PAUSS  evolved as a measure capturing the continuous nature of autistic behaviors. The definition of extreme-groups based on the dimensional  PAUSS  may permit future investigations of genetic constellations modulating autistic phenotypes.

Autism beyond diagnostic categories: characterization of autistic phenotypes in schizophrenia