Autism spectrum disorder (ASD) is characterized by persistent difficulties with communication and social interactions, as well as restricted and repetitive patterns of behaviors, interests, and activities.
According to recent epidemiological data, the overall prevalence of ASD in the United States is 23 per 1,000 among children aged eight years and older, and it is four times more common in boys than girls.
Individuals with ASD may experience a variety of symptoms and levels of severity, ranging from mild to severe, requiring lifelong support and care.
ASD can be classified as either a syndrome, which corresponds to rare and severe cases with a history or clinical findings (e.g., Fragile X syndrome, Phelan-McDermid syndrome, etc.), or idiopathic, which encompasses the majority of cases.
Approximately 80% of ASD cases have no clear etiology; However, diverse mutations, genetic variants, environmental factors, and genetic factors can interact and contribute as risk factors for the development of the disorder.
Despite their numerous nature, autism risk genes converge on a limited number of biological processes involved in critical steps of neurodevelopment. Some mutations may affect excitatory or inhibitory neurons, different neurotransmitter systems, and specific populations of neurons in the cerebral cortex or cerebellum. Increasing knowledge of the key mechanisms involved in the neurobiology of autism spectrum disorder (ASD) is crucial for identifying new potential therapeutic targets.
To achieve this, the impact of genetic variation at the cellular and molecular levels during neurodevelopment must be determined. Studies investigating the pathophysiology of ASD have relied on brain imaging, post-mortem tissue analyses, and animal models. In recent decades, in vitro models containing patient-derived induced pluripotent stem cells (iPSCs) have been developed and demonstrated their ability to consistently reproduce many aspects of human neurodevelopment, providing new opportunities for research in the field of ASD. With the advent of induced pluripotent stem cells (iPSCs) and the subsequent production of brain organoids from these cells, the potential to manipulate a variety of morphological and lineage-differentiation processes involved in organogenesis has greatly increased.
These structures allow for more detailed studies of diverse diseases and disorders, including genotype-phenotype correlation studies, which contribute to better simulation of early aspects of brain development and provide important clues to better elucidate the disorder.
