CHD8 and autism spectrum disorder: genomic advances and clinical implications for neurological practice

Background: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors. Recent advances in genomics have revealed the CHD8 gene as an important factor in the etiology of ASD, with loss-of-function mutations often associated with variable clinical manifestations of the condition. Understanding the specific role of CHD8 in ASD is crucial to developing more accurate diagnostic strategies and targeted therapies. Objective: To analyze recent studies on the CHD8 gene and its implications in ASD in order to provide a comprehensive overview of the latest genomic findings and discuss their clinical implications in neurological practice. Methods: This is an exploratory and descriptive systematic review conducted according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) and PICO (Population, Intervention, Comparison, Outcome) guidelines. Searches were carried out in the PubMed, SciELO, Cochrane Library and BVS databases, using the descriptors: "CHD8" AND "Genomics" AND "Autism Spectrum Disorder". We included studies published in the last 5 years (2019 - 2024), in English and Portuguese, which investigated the associations between the CHD8 gene and ASD, exploring genomic advances and their clinical implications in neurological practice. Experimental studies, controlled clinical trials and systematic reviews were considered for inclusion in the analysis. Results: During the initial search, 26 articles were identified. After reviewing the titles, abstracts and conclusions, 21 were excluded because they did not meet the inclusion criteria. Five studies were selected for full reading and inclusion in this research. These studies offer significant advances in the understanding of CHD8 in ASD, highlighting its robust association with the pathogenesis of this condition and its influence on specific clinical phenotypes. The research reviewed reveals that mutations in CHD8 are frequently found in individuals with ASD, contributing significantly to the phenotypic variability observed in the condition. In addition, they elucidate the molecular mechanisms by which CHD8 affects synaptic function, gene expression and chromatin compaction, providing important insights for molecular diagnosis and the potential development of personalized gene-based therapies. Conclusion: This study underlines the importance of the CHD8 gene in the etiology of ASD and highlights recent genomic advances that are shaping the understanding of the condition. Integrating these findings into neurological practice may offer new opportunities for early diagnosis, more effective clinical management and the development of targeted therapeutic interventions. Future studies should continue to explore the functional and clinical implications of CHD8, aiming to improve outcomes for individuals affected by ASD related to mutations in this specific gene.