Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Area of Science:

• Neurodevelopmental Disorders
• Genetics
• Biomarkers

Background:

• Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by significant heterogeneity.
• This heterogeneity presents challenges for research, diagnosis, and clinical translation of findings.
• Understanding the diverse biological underpinnings of ASD is crucial for developing effective interventions.

Purpose of the Study:

• To systematically review the current understanding of autism spectrum disorder (ASD) pathogenesis, diagnostic markers, and interventions.
• To explore the application of multi-omics and other high-throughput methods in ASD research.
• To identify convergent mechanisms and potential therapeutic targets by analyzing heterogeneity in ASD.

Main Methods:

• Systematic review of existing literature on ASD pathogenesis, diagnostics, and interventions.
• Analysis of multi-omics data to identify molecular mechanisms and genetic backgrounds.
• Review of studies on comorbidities, physiological abnormalities, gut microbiota, and diagnostic markers.

Main Results:

• Multi-omics studies reveal diverse molecular mechanisms and convergent pathways in ASD across different genetic backgrounds.
• Comorbidities, inflammation, immune dysregulation, oxidative stress, mitochondrial dysfunction, and gut microbiota alterations are associated with ASD.
• Progress in behavioral, educational, technological, and medical interventions, including identification of potential drug targets, has been summarized.

Conclusions:

• High-throughput omics methods are valuable tools for advancing ASD research.
• Addressing ASD's heterogeneity by seeking commonalities in mechanisms, biomarkers, and interventions is essential.
• Integrating individual patient characteristics with common disease pathways is key for accurate ASD diagnosis and treatment.