Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model

Abstract

ABSTRACT Purpose To identify possible predictors of executive functions of individuals with CHARGE syndrome, as these will be important targets for interventions. Methods A population-based cross-sectional study investigating the executive functions of a representative sample of 35 Norwegians with CHARGE syndrome divided into two subgroups to handle their inherent heterogeneity. Both performance-based measures and rating scale findings were included and organized according to the 3-factor model of Miyake and colleagues. Results Both measures showed comprehensive executive dysfunctions within the population, which were largely unrelated to deafblindness. Working memory stood out as a strength within the executive domain and the only factor presenting results within the normal range. Verbal working memory was a particular cognitive resource for participants with deafblindness, and, unlike those without deafblindness, unrelated to sensorimotor functions. Conclusions Individuals with CHARGE syndrome appear to be at risk for underdeveloped executive functions due to neurogenetic and environmental factors. Performance-based measures and ratings from caregivers gave unique and complementary knowledge and implied the need of both when investigating executive functioning in CHARGE syndrome. Participants with deafblindness presented strong verbal working memory despite their auditory impairments, indicating effective compensatory mechanisms The results also indicated an untapped cognitive potential in both subgroups. Because of their relatively advanced working memory significantly correlating with global cognition, the environment should assume equal learning potential of individuals with CHARGE syndrome regardless of their degree of sensory impairments.