Autism Spectrum Disorder: From Bench to Molecular Mechanisms

Dear Colleagues,

Autism Spectrum Disorder is a complex neurobiological condition that affects approximately 1 in 31 children as of 2026. While traditionally defined by behavioral markers—such as challenges in social communication and restricted, repetitive patterns of behavior—modern research has shifted toward a "biologically anchored" framework that seeks to link these outward traits to their internal molecular origins. Autism Spectrum Disorder: From Bench to Molecular Mechanisms serves as a comprehensive guide to this evolving landscape, bridging the gap between basic laboratory research and the clinical reality of the disorder.

As of early 2026, the field has reached a transformative inflection point. Recent breakthroughs have expanded the catalog of known autism-risk genes from a handful to over 2,500, identifying four distinct biological subtypes that align specific genetic profiles with clinical presentations. This Special Issue explores these "points of biological convergence," including:

• Synaptopathy and Circuitry: How alterations in synaptic proteins and neural circuits—such as the Wnt and mTOR pathways—disturb the excitatory-inhibitory balance of the brain.
• Genetic Heterogeneity: The role of rare variants, polygenic load and X-linked gene expression in shaping individual neurodevelopmental trajectories.
• Systemic Interactions: New evidence linking Autism Spectrum Disorder to gut-microbe imbalances and neuroimmune dysregulation, providing a "brain-body" perspective on the disorder.
• Translational Advances: The use of organoid "mini-brains" and CRISPR-Cas9 technology to model human development and test personalized therapeutic targets, such as the reticular thalamic nucleus.

By synthesizing the latest data from large-scale genomic studies and multi-tiered research approaches, this issue provides investigators, clinicians and students with the necessary tools to understand Autism Spectrum Disorder not just as a set of symptoms, but as a diverse spectrum of precisely defined molecular mechanisms.

Dr. Dario Siniscalco
Guest Editor

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