Executive functioning phenotypes in youth with epilepsy

The objectives of this study were to identify executive functioning (EF) phenotypes in youth with epilepsy and to examine whether phenotypes differ on psychosocial and medical outcomes (i.e., absence/presence of seizures in the past three months), health-related quality of life (HRQOL), and emotional and behavioral functioning.

Youth 5-18 years with diagnosed epilepsy and caregivers completed a battery of questionnaires as part of a larger national validation of the Pediatric Quality of Life (PedsQL) Epilepsy Module. The primary measure of interest was the Behavior Rating Inventory of Executive Function-Parent Form. Medical chart reviews and demographic data were also collected. Latent class analysis was used to identify EF phenotypes. Chi-square and analyses of covariance (ANCOVA) were conducted to examine EF phenotype group differences on seizure outcomes, HRQOL, and behavioral and emotional functioning.

Two-hundred and thirty-seven children with epilepsy (M_age = 11.2 years; 56% female; 60% White: Non-Hispanic; 55% experienced seizures in the past three months) and their caregivers participated. Four EF phenotypes were identified: Group 1 - No EF deficits (45% of sample), Group 2 - Global EF deficits (29% of sample), Group 3 - Behavioral Regulation + Working Memory deficits (8% of sample), and Group 4 - Metacognitive deficits (17% of sample). No significant EF phenotype group differences were found for seizure characteristics. The ANCOVAs indicated significant EF phenotype group differences on HRQOL (parent-reported Impact, Cognitive, Sleep, EF, and Mood/Behavior and child-reported Cognitive, Sleep, EF, and Mood/Behavior subscales; ps < .001) and emotional and behavioral functioning (Externalizing, Internalizing, and Behavioral Symptom Index; ps < .001), with the Global EF deficits (Group 2) and Behavioral Regulation + Working Memory deficits groups (Group 3) demonstrating the greatest level of impairment.

Phenotypic variability in EF is significantly related to patient-reported outcomes. Interventions addressing EF deficits need to be individualized to a child's particular EF phenotype to achieve optimal outcomes.