Advancing detection and treatment of autism through translational research

Autism spectrum disorder (ASD) is a poorly understood brain disorder characterized by core social impairments. ASD impacts 1 in 54 US children and is among the most devastating disorders of childhood in terms of prevalence, morbidity, outcome, and cost. ASD is currently diagnosed on the basis of behavioral criteria because its disease biology remains poorly understood. By the time a child typically receives a formal ASD diagnosis, cumulative delays in the early processing of basic social stimuli have contributed to an atypical trajectory of poor social learning and abnormal social skill acquisition that is immensely difficult to overcome. The capability of rapidly detecting ASD based on a patient’s biology, when a child’s symptoms first emerge, or before the disorder manifests behaviorally, could revolutionize ASD evaluation and intervention. To pursue this possibility, we have pioneered a translational ASD research program, in naturally low-social rhesus monkeys and in children with ASD. Converging evidence from this work indicates that the arginine vasopressin signaling pathway plays a critical and conserved role in regulating social abilities that are impaired in both low-social monkeys and ASD patients. We have also found that people diagnosed with ASD in childhood have significantly lower neonatal cerebrospinal fluid vasopressin concentrations compared to those who do not later receive an ASD diagnosis. On the basis of this biological evidence, we recently conducted a “first in class” clinical trial which showed that vasopressin treatment improves social abilities in children with ASD. These collective findings suggest that a neurochemical marker of impaired social functioning may be present very early in life, before behavioral symptoms emerge, and that vasopressin may hold both diagnostic and therapeutic promise for improving the lives of those with ASD.