Abstract

BackgroundNeurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention. We investigated the neural mechanisms underlying the visual deficits of children and adolescents with NF1 by studying visual evoked potentials (VEPs) and brain oscillations during visual stimulation and rest periods.MethodsElectroencephalogram/event-related potential (EEG/ERP) responses were measured during visual processing (NF1 n = 17; controls n = 19) and idle periods with eyes closed and eyes open (NF1 n = 12; controls n = 14). Visual stimulation was chosen to bias activation of the three detection mechanisms: achromatic, red-green and blue-yellow.ResultsWe found significant differences between the groups for late chromatic VEPs and a specific enhancement in the amplitude of the parieto-occipital alpha amplitude both during visual stimulation and idle periods. Alpha modulation and the negative influence of alpha oscillations in visual performance were found in both groups.ConclusionsOur findings suggest abnormal later stages of visual processing and enhanced amplitude of alpha oscillations supporting the existence of deficits in basic sensory processing in NF1. Given the link between alpha oscillations, visual perception and attention, these results indicate a neural mechanism that might underlie the visual sensitivity deficits and increased lapses of attention observed in individuals with NF1.

Highlights

  • Neurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention

  • Time domain analysis: visual evoked potentials First, we determined the contrast response functions of the mean amplitude of the steady-state Visual evoked potential (VEP) elicited by achromatic stimulation with low-spatial, high-temporal frequency

  • There was a significant effect of stimulus contrast with mean amplitudes of the steady-state VEPs increasing with stimulus contrast (F(2.2,73) = 5.0, P

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Summary

Introduction

Neurofibromatosis type 1 (NF1) affects several areas of cognitive function including visual processing and attention. We investigated the neural mechanisms underlying the visual deficits of children and adolescents with NF1 by studying visual evoked potentials (VEPs) and brain oscillations during visual stimulation and rest periods. Neurofibromatosis type 1 (NF1) is the most common single gene disorder that affects brain function [1]. Deficient visually-evoked activation of occipital, temporal and parietal brain regions have been shown by functional magnetic resonance imaging (fMRI) studies [6,7]. Occipital brain regions encompass early visual cortical areas that underlie low-level vision. Impairments in these areas may result in poor processing of deficits in each of these independent pathways might have specific implications in the visual phenotype of these patients

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