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Genetic abnormalities in ASD are widely accepted; however, recent studies point to an equal contribution by environmental factors, particularly environmental toxicants. New publications examine estimated toxicant exposures during the preconceptional, gestational and early childhood periods, look for biomarkers of toxicants, and examine potential genetic susceptibilities.

Seizures are very common in individuals with autism, as are abnormal EEG recordings with seizure-like activity. A diagnosis of epilepsy is found in up to 40% of children with autism and, in many cases, is refractory to treatment. The pathology that causes epilepsy has also been implicated in children with autism.

Recent studies suggest ASD is associated with immune system dysfunction. Inflammatory cytokines are often elevated in the blood and brain. Children with ASD sometimes have autoantibodies to brain tissue as well as non-brain tissue such as the folate receptor alpha (FRα) and mitochondria. Another area of interest is the overlap between ASD and PANDAS/PANS.

Autism is associated with an imbalance in glutathione-dependent redox metabolism, linked to folate and methylation metabolism. Together these abnormalities define a distinct ASD endophenotype closely associated with genetic, epigenetic, mitochondrial, and environmental factors. Biomarkers reflecting these abnormalities are being investigated to better understand the mechanisms underlying ASD and to guide new treatments.

Increasing evidence suggests the enteric microbiome plays a critical role in the etiology and symptomatology of ASD, at least in some cases. Dr. Frye’s team has investigated novel approaches for studying and manipulating the enteric microbiome to improve autism symptoms, including the clinical and basic research aspects of enteric microbiome metabolites on mitochondrial function.

Abnormalities in mitochondrial function appear to affect a significant number of children with ASD, but their nature is poorly understood. Through literature reviews and clinical and basic research, Dr. Frye’s team has found that mitochondrial dysfunction in ASD is distinct from other forms of mitochondrial disease, and has developed a cell-line model to study it in detail.

Mutations in hundreds of genes contribute to the risk of ASD. Studies show significant differences in ASD-associated miRNA expression profiles across tissues (saliva, blood, serum, brain). These findings reveal miRNA–gene interactions regulating critical pathways in neuronal proliferation, immune cell death, and neuronal development — a promising area for future discoveries and possible treatments.

Neuroimaging has uncovered connectivity abnormalities in the brains of individuals with ASD. Functional MRI and other advances may have clinical utility as non-invasive ways to investigate neurochemical alterations, providing dynamic insight into the brain’s functional organization and helping evaluate treatments for patients with ASD and other neurodevelopmental disorders.

Although the prevalence of ASD continues to rise, no effective medical treatments have become standard of care. As the pathophysiological abnormalities associated with ASD are studied, treatments targeting neurotransmitter imbalances, sleep onset disorder, and metabolic abnormalities in folate, cobalamin, tetrahydrobiopterin, carnitine, and redox pathways are being investigated — along with treatments for epilepsy, mitochondrial and immune disorders, and the enteric microbiome.