Sensory processing in 16p11.2 deletion and 16p11.2 duplication

Abstract

Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP‐2) along with other standardized questionnaires assessing autistic traits (SRS‐2), ADHD traits (Conners 3), anxiety (SCAS‐P) and adaptive behavior (VABS‐3). SBQ and CSP‐2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP‐2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy‐one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives.

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

“…Importantly, our results could not be explained by differences in motor latencies or perceptual decision criteria between the groups. Together, the current results add to a growing body of literature demonstrating differences in sensory processing in 16p11.2 deletion (Smith et al, 2022), and suggest that visual functions like binocular rivalry may help to characterize putative alterations in sensory functions in autism genetic subgroups.…”

“…Although 16p11.2 deletions are well-documented genetic alterations associated with autism, only a few studies have focused on phenotypically characterizing these two conditions, especially in the sensory domain. One recent questionnaire-based study reported high levels of parent-reported sensory processing difficulties in individuals with 16p, at similar levels as is commonly reported for individuals with autism (Smith et al, 2022), highlighting the important of empirically studying sensory processes in the condition. Along these lines, one study demonstrated reductions in selective visual attention using a video game paradigm in children with 16p11.2 deletion (Anguera et al, 2016), and an eye-tracking study demonstrated a relative reduction in top-down as compared with bottom-up attention to images of real world scenes for individuals with 16p11.2 (Haskins et al, 2022).…”

“…GABAergic signaling has been implicated in animal models of 16p11.2 (Lee et al, 2017; Rein et al, 2021; Stoppel et al, 2018). Yet, in humans, only a few studies have examined behavioral processes that are known to depend on E/I balance in the condition, although recent questionnaire‐based reports highlight atypical sensory processing as an important feature in the condition (Smith et al, 2022). Here, we directly tested whether binocular rivalry dynamics differed in individuals with 16p11.2 as compared with age‐matched typically developing (TD) adolescents and adults.…”

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

“…The disruption of correlated activity in neural networks located in discrete brain areas could give rise to a range of behavioral symptoms exhibited by individuals with NPDs, by disrupting the sparse coding patterns, increasing noise or impairing the processing of salient signals 61 – 64 . For example, excessive synchrony in local somatosensory and visual cortices could provoke enhanced sensory sensitivity exhibited by 16p11.2 duplication carriers 65 . Alternatively, aberrant synchrony may contribute to ‘noisy networks’ which impair information processing and undermine higher-order cortical processing 66 – 68 .…”

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

“…The disruption of correlated activity in neural networks located in discrete brain areas could give rise to a range of behavioral symptoms exhibited by individuals with NPDs, by disrupting the sparse coding patterns, increasing noise or impairing the processing of salient signals 61,62,63,64 . For example, excessive synchrony in local somatosensory and visual cortices could provoke enhanced sensory sensitivity exhibited by 16p11.2 duplication carriers 65 . Alternatively, aberrant synchrony may contribute to 'noisy networks' which impair information processing and undermine higher-order cortical processing 66,67,68 .…”