From molecules to models: A holistic review of autism spectrum disorder mechanisms and research tools.

This review explains that autism has both genetic and environmental causes. While certain gene changes increase autism risk, factors like older parent age, pregnancy health problems, diabetes during pregnancy, and gut bacteria changes in early life also play important roles. The research looks at brain function, behavior, and examines different treatment approaches to help develop better therapies for people with autism.

This comprehensive review examines autism spectrum disorder (ASD) from multiple perspectives, analyzing its complex pathophysiology through neurophysiological, behavioral, and post-mortem findings. The paper synthesizes current understanding of ASD mechanisms, emphasizing that while genetic variations in regulatory genes remain central to ASD risk, environmental factors also significantly contribute to the disorder's development. These environmental influences include advanced parental age, poor maternal health during pregnancy, gestational diabetes, and early-life gut microbiome alterations. The review explores metabolic pathway dysregulation, the gut-brain axis role, and evaluates both established and emerging pharmacotherapeutic approaches.

Animal models used in ASD research are also discussed, providing insights for developing novel therapeutic opportunities.

The multifactorial understanding of ASD pathophysiology supports personalized medicine approaches considering both genetic and environmental factors. The identification of metabolic and gut-brain axis involvement provides new therapeutic targets, while environmental risk factor recognition enables prevention strategies and early intervention planning.

This is a narrative review that synthesizes existing research rather than presenting new empirical data. The abstract does not specify inclusion criteria, search methodology, or quality assessment of reviewed studies, which limits the ability to assess the comprehensiveness and rigor of the evidence synthesis.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction, as well as restricted, repetitive patterns of behavior, interests, or activities. These features are associated with atypical early brain development and connectivity. While ASD has been traditionally associated with molecular genetic alterations, recent research highlights the significant contribution of various environmental factors to the pathophysiology of the disorder. Pathogenic genetic variations in key regulatory genes remain central to ASD risk; however, environmental influences such as advanced maternal or paternal age, poor maternal health during pregnancy, gestational diabetes mellitus, alterations in the early-life gut microbiome, and other perinatal or early childhood environmental exposures have all been associated with an increased likelihood of developing ASD.

This review synthesizes recent advances in our understanding of ASD by providing a comprehensive analysis of the disorder's diverse pathophysiological mechanisms from multiple perspectives. Specifically, this paper discusses neurophysiological, behavioral, and post-mortem findings, and explores the utility of widely used animal models in ASD research. Particular attention is given to dysregulation of key metabolic pathways and the role of the gut-brain axis in ASD. The review also evaluates both established and emerging pharmacotherapeutic approaches, highlighting significant cellular, histological, and behavioral alterations associated with ASD.

Collectively, these insights provide a foundation for developing novel tools to understand the molecular pathways of these genes and its implication of novel therapeutic opportunities for individuals with ASD.