Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting

Abstract

Progress in medical genetics has changed the practice of medicine in general and child neurology in particular. A genetic diagnosis has become critically important in determining optimal management of many neurodevelopmental disorders, making genetic testing a routine consideration of patient care in outpatient and inpatient settings. Today's child neurologists should be familiar with various genetic testing modalities and their appropriate use. Molecular genetic testing of children with unexplained developmental delays and/or congenital anomalies has a 20% to 30% chance of identifying a causative etiology. Newer methods have made genetic testing more widely available and sensitive but also more likely to produce ambiguous results.

Keywords: Autism spectrum disorder, ASD; Genetic testing; Global developmental delay, GDD; Intellectual disability, ID; Multiple congenital anomalies, MCA; Neurodevelopmental disabilities, NDD; Whole exome sequencing, WES; Whole genome sequencing, WGS.