Advances of Genomic Medicine in Neurodevelopmental Disorders
摘要
Neurodevelopmental disorders (NDDs) are a group of conditions with developmental onset, characterized by abnormalities in cognition, language, behavior, and motor function. These disorders significantly impair personal, social, academic, and occupational functioning. NDDs are mostly diagnosed by clinical evaluation and using psychological assessment tools. Due to the complex overlapping clinical presentation of NDDs, diagnosis of this disorder is difficult by clinical evaluation and psychological assessment. Early diagnosis of NDD can lead to better outcomes by facilitating educational planning and therapeutics. The integration of genomic medicine is a revolution in the discovery of new genetic causes of NDDs and has become a crucial tool for the diagnosis, understanding, and treatment of NDDs. The advent of advanced genomic technologies, particularly exome sequencing (ES) and genome sequencing (GS), has significantly improved the diagnostic yield for these conditions. Accurate diagnosis enables early intervention by utilizing available pharmacogenomic biomarkers and appropriate developmental therapies. Additionally, targeted gene therapies like engineered viral vectors, antisense oligonucleotides (ASOs), and clustered regulatory interspaced short palindromic repeats (CRISPR)-based genome editing show promise as potential curative approaches. While each of these technologies presents distinct limitations, their thoughtful design and strategic implementation may help to overcome these challenges and improve their clinical applicability.