New neural measures signal autism

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Science Translational Medicine  04 May 2016:
Vol. 8, Issue 337, pp. 337ec73
DOI: 10.1126/scitranslmed.aaf8772

People often lament the meager social skills of their spouses, colleagues, children, and friends, and books and advice columns offer aids for facilitating interaction and communication with others. For people with autism spectrum disorder (ASD), neurodevelopmental missteps drive deficits in socio-communication and a combination of stereotyped behaviors, restricted interests, cognitive inflexibility, or sensory abnormalities that no run-of-the-mill self-help books can salve. Now, Bjornsdotter and colleagues use functional imaging to quantify the neural activity of social perception circuits and pinpoint a potential marker for ASD behavior in males.

In the past three decades, researchers have used neuroimaging to investigate the neural substrates of characteristic behaviors in individuals with ASD in the hopes of discovering biomarkers that can aid in the tracking of disorder progression and determining responses to interventions. However, practical and technical reasons—for example, differences in image acquisition methods and variations in characteristics of participants—have prevented replication of the results of such studies. This problem of replicating neuroimaging findings has been a key challenge in the field of autism.

In a recent investigation involving a discovery cohort of 39 children and adolescents (22 with ASD and 17 neurotypical controls), the authors quantified the neural activity of social perception circuits with functional magnetic resonance imaging (fMRI) in response to point-light displays of coherent versus scrambled human motion—a task relevant for social perception. Compared with neurotypical controls, boys, but not girls, with ASD displayed a relative reduction in social perception circuit responses. This finding was reproduced in a group-level analysis of a larger replication cohort made up of 75 children and adolescents (37 with ASD and 38 neurotypical controls). Remarkably, reductions in responses in the social perception circuits in boys with ASD were also detected in individual-level analyses (that is, measurements of an individual participant instead of a group of participants) with moderate levels of sensitivity and specificity. The authors concluded that the activity of specific brain circuits in response to a social perception task is a promising individual-level candidate neural marker of the male ASD behavioral phenotype.

Is this neuroimaging biomarker ready for use in tracking responses to interventions and disease progression? Clearly, such a biomarker is of great clinical value, if it can distinguish ASD from other neurodevelopmental disorders and differentiate affected from unaffected family members. Whereas the results of this study are encouraging, further replications by researchers in other institutions are needed to validate the specificity and clinical utility of this biomarker.

M. Bjornsdotter et al., Evaluation of quantified social perception circuit activity as a neurobiological marker of autism spectrum disorder. JAMA Psych. 10.1001/jamapsychiatry.2016.0219 (2016). [Abstract]

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