Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.

ABSTRACT:

Objective

To investigate disparities in the utilization of genetic sequencing among children with Infantile Epileptic Spasms Syndrome (IESS), a severe early-onset epilepsy where timely diagnosis and treatment are crucial for improving neurodevelopmental outcomes, previous studies have highlighted disparities in the evaluation and management of IESS. Genetic sequencing has emerged as a crucial tool in diagnosing unexplained epilepsies, offering precise etiological insights that can guide management. Despite guidelines recommending genetic sequencing for all unexplained epilepsies, little is known about how demographic and clinical factors influence the utilization of genetic sequencing in children with IESS.

Methods

Retrospective cross-sectional cohort study, of 121 children

SUBMITTER: Marzouki KE 

PROVIDER: S-EPMC12014927 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature