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Background: Autism spectrum disorder (ASD) is a group of neurodevelopmental conditions associated with quantitative differences in cortical and subcortical brain morphometry. Qualitative assessment of brain morphology provides complementary information on the possible underlying neurobiology. Studies of neuroradiological findings in ASD have rendered mixed results, and await robust replication in a sizable and independent sample. Methods: We systematically and comprehensively assessed neuroradiological findings in a large cohort of participants with ASD and age-matched controls (total N = 620, 348 ASD and 272 controls), including 70 participants with intellectual disability (47 ASD, 23 controls). We developed a comprehensive scoring system, augmented by standardized biometric measures. Results: There was a higher incidence of neuroradiological findings in individuals with ASD (89.4 %) compared to controls (83.8 %, p = .042). Certain findings were also more common in ASD, in particular opercular abnormalities (OR 1.9, 95 % CI 1.3–3.6) and mega cisterna magna (OR 2.4, 95 % CI 1.4–4.0) reached significance when using FDR, whereas increases in macrocephaly (OR 2.0, 95 % CI 1.2–3.2), cranial deformities (OR 2.4, 95 % CI: 1.0–5.8), calvarian / dural thickening (OR 1.5, 95 % CI 1.0–2.3), ventriculomegaly (OR 3.4, 95 % CI 1.3–9.2), and hypoplasia of the corpus callosum (OR 2.7, 95 % CI 1.1–6.3) did not survive this correction. Furthermore, neuroradiological findings were more likely to occur in isolation in controls, whereas they clustered more frequently in ASD. The incidence of neuroradiological findings was higher in individuals with mild intellectual disability (95.7 %), irrespective of ASD diagnosis. Conclusion: There was a subtly higher prevalence of neuroradiological findings in ASD, which did not appear to be specific to the condition. Individual findings or clusters of findings may point towards the neurodevelopmental mechanisms involved in individual cases. As such, clinical MRI assessments may be useful to guide further etiopathological (genetic) investigations, and are potentially valuable to fundamental ASD research.

Fecal bile acid excretion is one of the two major routes by which cholesterol is eliminated from the body, fecal cholesterol being the other. During their enterohepatic circulation, bile acids are secreted into the duodenum, pass down the jejunum and into the ileum where more than 95% is reabsorbed by the gut. Bile acids that escape reabsorption in the small intestine are metabolized by microorganisms in the large intestine. The major routes of metabolism are reported to be deconjugation, dehydroxylation, especially at the 7 alpha-hydroxy position, and dehydrogenation of the hydroxyl moieties. There are also some reports that saponifiable metabolites containing mostly deoxycholic acid form a major component of the bile acids found in human feces. We have identified a novel metabolite of cholic acid, 3 alpha-hydroxy polydeoxycholate, in both human and hamster feces that is the major constituent of these saponifiable metabolites. Furthermore, we have shown in hamsters that the animals that excreted more bile acid were excreting the additional bile acid as polydeoxycholate. As expected, there was a negative correlation between bile acid excretion in the feces and plasma cholesterol concentrations in these animals. We speculate that polydeoxycholate is formed in the lower gut of both humans and hamsters and that, by its formation, bile acid will be sequestered in an insoluble form, thus inhibiting its reabsorption by the gut. This process may help to reduce plasma cholesterol concentrations and coronary heart disease in humans.