Genetics of Neonatal Encephalopathy and Related Disorders

Neonatal encephalopathy (NE) is a disorder of term newborns involving dysfunction of the central nervous system and can impact one's health throughout the lifespan. While NE can be caused by a number of exposures or external factors, in some cases there is no cause identified or the severity of the condition cannot fully be explained by external factors. In these cases, there is increasing evidence to suggest underlying genetic factors may contribute to NE.

The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause or contribute to NE. By doing so the investigators hope to improve diagnosis and management of NE.

We have two specific aims:

Aim 1: To identify genetic causes of and contributors to NE and related disorders.

Aim 2: To correlate genetic findings with clinical features.

Proband Criteria:

Inclusion criteria

• Diagnosed with neonatal encephalopathy during the neonatal period as documented in the electronic medical record
• Less than 6 years old at the time of study enrollment
• Patient at Boston Children's Hospital

Exclusion criteria

• Genetic cause of NE already identified
• Deceased prior to enrollment

Parent criteria:

Inclusion criteria

• Biological parent of eligible proband (see above)