Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex

Abstract

Tuberous sclerosis complex is an autosomal dominant genetic disorder that confers a high risk for neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. Studies have demonstrated specific delays in visual reception skills that may predict the development of autism spectrum disorder and intellectual disability. Based on evidence for alterations in the retinogeniculate pathway in animal models of tuberous sclerosis complex, we asked whether children with tuberous sclerosis complex demonstrate alterations in early visual processing that may undermine the development of higher-level visual behaviors. Pattern-reversal visual evoked potentials were recorded in infants with tuberous sclerosis complex (n = 16) and typically developing infants (n = 18) at 12 months of age. Infants with tuberous sclerosis complex demonstrated remarkably intact visual evoked potentials even within the context of intellectual disability and epilepsy. Infants with tuberous sclerosis complex show intact visual cortical processing, suggesting that delays in visually mediated behaviors in tuberous sclerosis complex may not be rooted in early visual processing deficits.

Keywords: event-related potentials; neurodevelopmental disorders; tuberous sclerosis complex; visual evoked potentials; visual processing.

Figure 1

(A) Grand-averaged VEP waveforms for Typically Developing (TD) and TSC groups, (B) Individual VEP traces for 12-month old Typically Developing (TD) infants, (C) Individual VEP traces for 12-month old infants with TSC.

Figure 2

Topographic maps of the maximal amplitude (as determined by median latency values for each group) of the N1, P1 and N2 VEP components for TSC (top row) and Typically Developing (TD; bottom row) groups.