Study of Genetic Causes and Features of Neonatal Encephalopathy in Children Under 6 Years Treated at Boston Childrens Hospital

What this Trial Is About

Researchers at Boston Childrens Hospital are investigating the genetic factors that may contribute to neonatal encephalopathy NE and related disorders. NE is a condition affecting the central nervous system of term newborns, sometimes without a clear external cause, and can impact health throughout life. This observational study aims to find genetic changes linked to NE to better understand the range of clinical features and outcomes in affected individuals. The study involves children less than 6 years old with a history of NE who receive clinical care at Boston Childrens Hospital, along with their biological parents. Genetic sequencing is performed to identify DNA variants that may explain NE, with confirmation of findings through clinical laboratory standards. Participants with a known genetic diagnosis or those who are deceased before enrollment are not eligible. Participants will be followed clinically at the hospital, and researchers will collect and analyze genetic data over a 10-year period to measure the diagnostic yield of this genetic testing. The study focuses on correlating genetic findings with clinical features to improve diagnosis and management. Participation involves ongoing clinical observation and genetic analysis without experimental treatment.

Genetics of Neonatal Encephalopathy and Related Disorders