Abstract
Understanding the autistic brain and the involvement of genetic, non-genetic, and numerous signaling pathways in the etiology and pathophysiology of autism spectrum disorder (ASD) is complex, as is evident from various studies. Apart from multiple developmental disorders of the brain, autistic subjects show a few characteristics like impairment in social communications related to repetitive, restricted, or stereotypical behavior, which suggests alterations in neuronal circuits caused by defects in various signaling pathways during embryogenesis. Most of the research studies on ASD subjects and genetic models revealed the involvement of mutated genes with alterations of numerous signaling pathways like Wnt, hedgehog, and Retinoic Acid (RA). Despite significant improvement in understanding the pathogenesis and etiology of ASD, there is an increasing awareness related to it as well as a need for more in-depth research because no effective therapy has been developed to address ASD symptoms. Therefore, identifying better therapeutic interventions like “novel drugs for ASD” and biomarkers for early detection and disease condition determination are required. This review article investigated various etiological factors as well as the signaling mechanisms and their alterations to understand ASD pathophysiology. It summarizes the mechanism of signaling pathways, their significance, and implications for ASD.
Highlights
Gli factors play an important role in cell growth, differentiation, and survival in both the brain and immune system
Disruption of the retinoic acid enzymatic production pathway was found to be associated with autism spectrum disorder (ASD) phenotypes and retinoic acid nuclear receptors, which have been involved in the pathophysiology of ASD; additional studies have to be performed to establish the correlation between ASD pathogenesis and the involvement of RAR and ROR agonists for autism treatment
Existing knowledge and understanding related to the etiology and pathology of ASD is still growing through various collaborative and comprehensive efforts
Summary
Autism Spectrum Disorder (ASD) is a chronic heterogeneous neurodevelopmental disorder characterized by impairment in social communications, related to restricted, repetitive, or stereotypical behavior [1] It is the principal cause of disability among children less than 5 years of age suffering from mental disorders. Some previous research studies suggested that early detection and intervention can improve language and speech abilities as well as reduce cognitive decline and behavior in affected children [5]. They supported the idea that ASD can be diagnosed in the first two years after birth [6]; several studies report that a substantial proportion of affected children are not diagnosed until they are school-aged [7]. Unlocking the etiology of these multifaceted developmental disorders requires a collaborative research discipline including health care professionals, environmental experts, geneticists, bioinformaticians, and computer scientists
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