Genomic Insights into Pediatric Neurodevelopmental Disorders: Current Trends and Future Directions

Abstract

Pediatric neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual disability (ID), and epilepsy present complex challenges due to their diverse etiologies involving genetic, environmental, and epigenetic factors. Recent advancements in genomic technologies, including whole-exome sequencing (WES) and whole-genome sequencing (WGS), have significantly enhanced our understanding of these disorders. This review provides a comprehensive overview of current trends and future directions in genomic research on NDDs. We explore the genetic basis of NDDs, highlighting single-gene disorders and polygenic contributions, as well as the role of copy number variations (CNVs). Functional genomics approaches, such as gene expression profiling and epigenetic studies, have elucidated key pathways and mechanisms underlying these disorders. Integrative approaches combining multi-omics data and systems biology have further advanced our knowledge, identifying novel genes and regulatory networks involved in NDDs. The translation of genomic findings into clinical practice is transforming the diagnosis and treatment of NDDs. Genetic testing, including WES, WGS, and targeted gene panels, has improved diagnostic accuracy, while therapeutic developments such as gene therapy and antisense oligonucleotides (ASOs) offer new avenues for treatment. Biomarker discovery is crucial for early diagnosis and monitoring treatment responses. Future perspectives include leveraging emerging technologies like single-cell genomics, long-read sequencing, and CRISPR-based functional genomics to deepen our understanding of NDDs. Addressing ethical and social considerations is essential for the responsible translation of genomic discoveries into clinical practice. This review underscores the potential of genomic research to revolutionize the understanding, diagnosis, and treatment of pediatric neurodevelopmental disorders.