Infantile Spasms presents with epileptic spasms and neurocognitive regression in infants. Evaluation includes electroencephalogram, neuroimaging, and metabolic testing. Specifically, gene sequencing can reveal a precise etiology and guide management. However, there is an absence of clear evidence-based guidelines to direct the use of gene sequencing. 

Here we report a retrospective cohort study of children diagnosed in the University of North Carolina Healthcare System between 2015 and 2020 with Infantile Spasms. We abstracted electronic medical records data including gene sequencing results and demographic factors that are classically social determinants of health (race, ethnicity, zip code/rurality, insurance carrier, preferred language). 

Of the 186 patients identified, 104 (56%) had no gene sequencing completed and genetic sequencing was performed in 82 (44%) patients (targeted gene panels or whole exome sequencing). Gene sequencing in 35 patients (43%) yielded diagnostic results. There was no statistically significant difference in completed genetic testing between patients identified as White or Caucasians (47%), Black or African American (31%, p=0.11), Hispanic or Latino (61%, p=0.19), or Other Race (45%, p=0.80). Of the patients identified, 96 (52%) were female (assigned sex at birth). There was no statistically significant difference in completed gene sequencing for female (41%) and male patients (47%, p=0.44). 

Our results suggest that gene sequencing may be underutilized in patients with Infantile Spasms. Gene sequencing may have implications for timely and targeted treatment. There was no significant difference in the percentage of subjects with completed genetic testing based on reported race, ethnicity, or assigned sex at birth.