Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder

Area of Science:

• Neurodevelopmental Disorders
• Biomarker Discovery
• Genetics and Neurology

Background:

• Autism Spectrum Disorder (ASD) diagnosis relies on behavioral deficits, complicating early intervention.
• Heterogeneity in ASD etiology (genetic and environmental) presents diagnostic and treatment challenges.
• Early interventions significantly improve long-term outcomes, necessitating reliable presymptomatic diagnostic biomarkers.

Purpose of the Study:

• To systematically review current findings on genetic and neurological biomarkers for presymptomatic ASD diagnosis.
• To analyze mechanisms of presymptomatic neurological, biological, structural, and functional markers for ASD.
• To critically assess the limitations and implications of identified biomarkers for clinical application.

Main Methods:

• Systematic literature review of genetic and neurological biomarkers for presymptomatic ASD.
• Analysis of findings from imaging technologies (MRI, EEG, pupillometry, MEG) in infants.
• Evaluation of genotype-guided therapeutic strategies in animal models.

Main Results:

• Advancements in imaging technologies show promising presymptomatic markers in neonates and infants.
• Genotype-guided therapies in animal models suggest potential for targeted interventions.
• Challenges remain in identifying reliable genomic biomarkers prior to symptom onset.

Conclusions:

• Presymptomatic biomarkers for ASD, particularly from neuroimaging, show promise but require further validation.
• Genomic biomarkers and genotype-guided therapies need more research for clinical utility.
• Continued research is essential to enhance the practicality, reliability, and acceptability of ASD biomarkers for improved diagnosis and treatment.