Steady-state visual evoked potentials in children with neurofibromatosis type 1: associations with behavioral rating scales and impact of psychostimulant medication

Abstract

Background Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1. Methods SSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n = 28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6 Hz, 10 Hz, and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson’s correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioral problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n = 8) with paired t-tests. Results We observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioral problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6 Hz) was rescued with the intake of psychostimulant medication. Conclusions Impaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1.

Autism spectrum disorder profiles in RASopathies: A systematic review

“…(2016). and seven additional studies in NF1 cohorts (Chisholm et al., 2022; Huijbregts & de Sonneville, 2011; Lalancette et al., 2022; Lubbers et al., 2022; Morotti et al., 2021; Payne et al., 2020; van Eeghen et al., 2013) ( n = 1046) and 2 studies in NS (Adviento et al., 2014; Naylor et al., 2023) ( n = 96) and compared these data with those from Adviento et al. (2014).…”

“…The scores for CFC, CS, and iASD have been adopted from Adviento et al (2014). The score for NF1 has been calculated by pooling data from 8 studies (Chisholm et al, 2022;Huijbregts & de Sonneville, 2011;Lalancette et al, 2022;Lubbers et al, 2022;Morotti et al, 2021;Morris et al, 2016;Payne et al, 2020;van Eeghen et al, 2013). The score for NS has been calculated by pooling data from two studies (Adviento et al, 2014;Naylor et al, 2023).…”

“…We pooled mean SRS T scores from Morris et al (2016). and seven additional studies in NF1 cohorts (Chisholm et al, 2022;Huijbregts & de Sonneville, 2011;Lalancette et al, 2022;Lubbers et al, 2022;Morotti et al, 2021;Payne et al, 2020;van Eeghen et al, 2013) (n = 1046) and 2 studies in NS (Adviento et al, 2014;Naylor et al, 2023) (n = 96) and compared these data with those from Adviento et al (2014). on the other RASopathies (n = 40 for CS and n = 49 for CFC), calculating 95%CI's assuming normal distributions.…”

A High-Resolution LED Stimulator for Steady-State Visual Stimulation: Customizable, Affordable, and Open Source

“…Sensory repetitive stimulation induces neural activity synchronization in populations of cortex neurons, which is reflected as distinct oscillatory patterns in the electroencephalogram (EEG) across various sensory modalities. In the case of visual stimulation, steady-state visually evoked potentials (SSVEPs) are neural responses elicited by visual stimuli oscillating at specific frequencies, providing valuable insights into the functional organization of visual processing and cognitive functions in health [ 1 , 2 , 3 , 4 ] and pathological conditions [ 5 , 6 , 7 , 8 , 9 , 10 ]. SSVEPs can be recorded from the scalp using EEG recordings, obtaining the maximum amplitude at the stimulation frequency, usually at occipital brain regions.…”

A High-Resolution LED Display for Steady State Visual Stimulation: Customized, Affordable, and Open Source

“…Sensory repetitive stimulation induces neural activity synchronization in populations of neurons of the cortex, which is reflected as distinct oscillatory patterns in the electroencephalogram (EEG) across various sensory modalities. In the case of visual stimulation, Steady State Visual Evoked Potentials (SSVEPs) are neural responses elicited by visual stimuli oscillating at specific frequencies, providing valuable insights into the functional organization of visual processing and cognitive functions in health [1][2][3][4] and pathological conditions [5][6][7][8][9][10]. SSVEPs can be recorded from the scalp using the EEG, obtaining maximum amplitude at the stimulation frequency, usually at occipital brain regions.…”