Visual processing in genetic conditions linked to autism: A behavioral study of binocular rivalry in individuals with 16p11.2 deletions and age‐matched controls

Abstract

Close phenotypic characterization of individuals with genetic conditions linked to autism provides a promising approach to navigating the heterogeneity of autism spectrum conditions. The current study investigated sensory processing in individuals with a rare genetic event that is highly penetrant for autism, 16p11.2 deletions, using a well-characterized visual paradigm, binocular rivalry, which is thought to be a non-invasive index of excitatory/inhibitory balance in the visual cortex. We characterized rivalry dynamics in 45 adolescent and adult individuals (19 individuals with 16p11.2 deletions, 26 age-matched neurotypical controls). We found that binocular rivalry perceptual transition rates were significantly slower for individuals with 16p11.2 deletions, relative to controls. Importantly, these results could not be accounted for by differences in motor response latencies or perceptual decision criteria, which were matched between groups. Results should be interpreted with caution given the unmatched psychometric features between groups, such as IQ. Future studies should study visual processing in other genetic groups linked to autism beyond 16p to understand the specificity of these findings. These results highlight the importance of characterizing sensory functions in individuals with genetic alterations associated with autism. Lay SummaryIndividuals with 16p11.2 deletions have a much higher prevalence of an autism diagnosis, compared with individuals in the typical population. To better understand sensory processing in this condition, we tested how individuals with and without 16p11.2 deletions perform on a simple visual task called binocular rivalry, which is thought to be linked to the balance of excitatory and inhibitory neurotransmission in visual cortex. Individuals with 16p11.2 had slower binocular rivalry dynamics compared with control individuals. These results highlight the importance of understanding sensory behavior in genetic conditions linked to autism.

Rhythmic attentional sampling in autism

“…Similarly, it has been hypothesized that the perceptual alternations in binocular rivalry are, at least in part, the result of modulation by right‐sided fronto‐parietal brain regions in attention network (Lumer et al, 1998; Tong et al, 2006). In autism, it has been consistently found that the rate of transitions in binocular rivalry is slower (Choi et al, 2023; Freyberg et al, 2015; Robertson et al, 2013; Spiegel et al, 2019), however our current results show that spatial attention sampling rate is not changed. Future work is needed to clarify the relationship between attentional oscillations and binocular rivalry and their underlying cortical dynamics, and how these mechanisms may differ and interact in autism.…”

Three Decades of Valproate: A Current Model for Studying Autism Spectrum Disorder

“…The term was first introduced to explain sensory, social, and emotional behaviors in individuals with ASD [ 265 ]. Binocular rivalry is a perceptual process that emphasizes the importance of reciprocal inhibition [ 266 , 267 ], which is dependent on E/I dynamics and is reduced in individuals with ASD [ 268 , 269 ]. The distribution of neurons in the neocortex is arranged in mini-columns, which modulates the microcircuitry of glutamatergic and GABAergic signaling.…”

Health supervision for children and adolescents with 16p11.2 deletion syndrome

“…Given the potential for improvement when therapy is started at an early age (Bernier et al 2017), evaluation by age 3 is recommended despite traditional recommendations to wait until age 7 to assess for auditory processing difficulties. • Evaluation for visual processing disorders (Choi et al 2023) is recommended (Kooiker et al 2020) by age 4 with an experienced developmental optometrist and subsequent vision therapy if necessary. • Brain MRI to assess for Chiari malformation if there are recurring headaches (Schaaf et al 2011).…”

“…• Educationally based mental health services assessment should be completed between the ages of 5-7 and reassessed as part of the IEP. • Evaluation for auditory and visual processing disorder if not done already and under continued specialty care (Jenkins et al 2016), (Choi et al 2023).…”