A small study by researchers at Stanford University School of Medicine has identified a biological marker in the cerebrospinal fluid (CSF) of human infants that may predict the future development of autism spectrum disorder (ASD). The study, which exploited a “one-of-a-kind” archive of biomaterials, showed that the hormone vasopressin was present at much lower levels in the CSF of 0–3-month-old babies who were later diagnosed with ASD than it was in CSF samples from infants who weren’t subsequently diagnosed with ASD.
The researchers suggest that if their findings can be replicated in a much larger, prospective study, measurement of the neurochemical marker could “transform how ASD is detected, both in behaviorally symptomatic children, and in infants at risk for developing it.” The investigators reported on their results in the Proceedings of the National Academy of Sciences(PNAS), in a paper titled, “Neonatal CSF vasopressin concentration predicts later medical record diagnosis of autism spectrum disorder.” The study’s first author is Ozge Oztan, PhD, a research scientist in psychiatry and behavioral sciences at Stanford. The co-senior authors are Karen Parker, PhD, associate professor of psychiatry and behavioral sciences at Stanford University’s department of psychiatry and behavioral sciences, and John Constantino, MD, professor of psychiatry and pediatrics at Washington University in St. Louis.
ASD is a brain disorder characterized by social interaction impairments and restricted, repetitive behaviors. The condition is currently diagnosed on the basis of behavioral criteria, the authors explained, because disease biology remains poorly understood, and no robust biomarkers have yet been identified. “Consequently, there are no laboratory-based diagnostic tests to detect, or medications to treat, ASD’s core features.”
Even without effective medications, early ASD diagnosis provides the opportunity for intensive behavioral therapy, which leads to better developmental outcomes. “When young children aren’t appropriately processing basic social stimuli early in life, it puts their brains on a different developmental trajectory,” said Parker. And while autism can be diagnosed from behavioral symptoms at around two years of age, long appointment wait times and shortages of autism specialists often delay diagnosis until four years of age—which is the typical age for diagnosis in the United States—or even later, causing children to miss the benefits of early treatment. If we could identify these children earlier, we could intervene earlier, Parker added.
“By the time a child is showing behavioral abnormalities and has received 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 authors stated. “The capability of rapidly detecting ASD based on a patient’s biological markers, when a child’s symptoms emerge—or even more optimistically, before the disorder manifests behaviorally—would revolutionize ASD detection and enable timely intervention.”
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