Development of a phenotype ontology for autism spectrum disorder by natural language processing on electronic health records.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by restricted, repetitive behavior, and impaired social communication and interactions. However, significant challenges remain in diagnosing and subtyping ASD due in part to the lack of a validated, standardized vocabulary to characterize clinical phenotypic presentation of ASD. Although the human phenotype ontology (HPO) plays an important role in delineating nuanced phenotypes for rare genetic diseases, it is inadequate to capture characteristic of behavioral and psychiatric phenotypes for individuals with ASD. There is a clear need, therefore, for a well-established phenotype terminology set that can assist in characterization of ASD phenotypes from patients' clinical narratives.

SUBMITTER: Zhao M 

PROVIDER: S-EPMC9128253 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature