Functional connectivity in tuberous sclerosis complex with autistic spectrum disorder preliminary findings

Abstract

Despite the frequent occurrence of autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC), the neu- rophysiological factors that distinguish children with TSC from children with TSC presenting with ASD symptoms remain unspecified. Growing evidence suggests that ASD may be characterized by atypical structural and functional connectivity be- tween specific cortical regions. In this exploratory study, we utilized magnetoencephalography to derive resting brain connec- tivity patterns, in an attempt to identify neurophysiological markers that may differentiate TSC children with ASD (n = 2) from TSC children without ASD (n = 2) and typically developing children (n = 2). Connectivity pattern analysis revealed that TSC children presenting with ASD symptoms can be distinguished from TSC and typically developing children by the presence of long-range, medial, anterior-posterior connections previously observed in adolescents with ASD. While preliminary in nature, our findings support the notion that altered functional connectivity may be a constituent characteristic of ASD and may enable prediction of which TSC children are likely to develop ASD and facilitate early behavioral and medical intervention.