Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis

Abstract

(Abstracted from JAMA Pediatr 2023;177(5):472–478) Exome sequencing (ES) is a powerful diagnostic tool that is now used routinely in diagnosing neurodevelopmental disorders, although it is not used as commonly as a tool for the diagnosis of cerebral palsy (CP). Cerebral palsy can and often does occur simultaneously with neurodevelopmental disorders such as intellectual disability (ID), autism spectrum disorder (ASD), and speech disorders, which are often evaluated by ES due to their significant genetic components and the variety of known genes that are associated with each disorder.