title: 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.
authors.affiliation: Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Kandice J
authors.initials: KJ
authors.lastname: Varcin
authors.affiliation: Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Graduate School of Education, Harvard University, Boston, MA, USA charles.nelson@childrens.harvard.edu.
authors.forename: Charles A
authors.initials: CA
authors.lastname: Nelson
authors.affiliation: Semel Institute of Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
authors.forename: Jordan
authors.initials: J
authors.lastname: Ko
authors.affiliation: F.M. Kirby Neurobiology Center, Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
authors.affiliation: Division of Pediatric Neurology, Mattel Children's Hospital at University of California, Los Angeles, CA, USA.
authors.forename: Joyce Y
authors.initials: JY
authors.lastname: Wu
authors.affiliation: Semel Institute of Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
authors.forename: Shafali Spurling
authors.initials: SS
authors.lastname: Jeste
mesh_terms: D002540:Cerebral Cortex / Q000503:physiopathology*; D004569:Electroencephalography; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D010775:Photic Stimulation; D014402:Tuberous Sclerosis / Q000150:complications / Q000503:physiopathology*; D014796:Visual Perception / Q000502:physiology*
keywords: event-related potentials; neurodevelopmental disorders; tuberous sclerosis complex; visual evoked potentials; visual processing