Touch and olfaction/taste differentiate children carrying a 16p11.2 deletion from children with ASD

Abstract

Background Sensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children. Methods Behavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses. Results ASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R. Limitations Sensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed. Conclusions Touch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.

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

“…The relationship observed between autistic symptomatology and sensory differences indicates that children with a 16p11.2 deletion and duplication who experience autistic symptomatology are also likely to experience sensory differences. The observed relationship in 16p11.2 deletion is also consistent with findings reported by Osório, Rodríguez‐Herreros, Romascano, et al ( 2021 ). They reported that ADOS‐2 Total Scores and Social Affect (SA) scores, but not Restricted and Repetitive Behavior (RRB) scores, were associated with sensory differences in 16p11.2 deletion children.…”

“…Overall, our findings in relation to 16p.11.2 deletion are broadly in alignment with those reported on a smaller 16p11.2 deletion cohort by Osório, Rodríguez‐Herreros, Romascano, et al ( 2021 ). However, a key difference from the findings reported by Osório, Rodríguez‐Herreros, Romascano, et al ( 2021 ) was that the current study found children with a 16p11.2 deletion exhibited differences in the processing of touch or oral (response to smells or touch/taste in the mouth) sensory information. Clear differences in touch and oral systems were present in both autistic and non‐autistic 16p11.2 children (although were somewhat less common in non‐autistic children).…”

“…While many of the medical, anthropometric, cognitive, and behavioral phenotypes associated with a 16p11.2 deletion and 16p11.2 duplication have been investigated, to date, no studies have reported on sensory processing phenotypes in children with a 16p11.2 duplication and only one study has investigated these features in children with a 16p11.2 deletion. Osório, Rodríguez‐Herreros, Romascano, et al ( 2021 ) studied groups of children with a 16p11.2 deletion ( n = 17), children with an autism diagnosis ( n = 121), and typically developing children ( n = 45), aged 2–12 years old. Using the parent‐reported Sensory Processing Measure (SPM; Parham & Ecker, 2007 ), they found that, compared to typically developing children, children with a 16p11.2 deletion exhibited differences in domains of vision, hearing, body awareness, and balance and motion but no differences in the touch domain or the taste and smell domain.…”

Sex differences in sensory processing in children with autism spectrum disorder

“…E. Lane et al, 2014;Little et al, 2017a). For instance, modalities such as audition, taste-smell and touch seem to discriminate individuals with ASD from other clinical groups (Little et al, 2017b;McCormick et al, 2016;Os orio et al, 2021;Schaaf & Lane, 2015;Tomchek & Dunn, 2007;Wiggins et al, 2009).In this context, using modality-based approaches to the study of sensory systems could provide more information on how sensory modalities contribute to the different subtypes of sensory difficulties, and whether these are specific to one or more NDD (DeBoth & Reynolds, 2017).…”

“…Over and under‐responses to sensory stimuli can have high levels of co‐occurrence (Ben‐Sasson et al, 2019 ; Dellapiazza et al, 2019 ), and they can also occur in different patterns across different modalities (Ausderau et al, 2014 ; Ausderau et al, 2016 ; DeBoth & Reynolds, 2017 ; A. E. Lane et al, 2011 ; A. E. Lane et al, 2014 ; Little et al, 2017a ). For instance, modalities such as audition, taste–smell and touch seem to discriminate individuals with ASD from other clinical groups (Little et al, 2017b ; McCormick et al, 2016 ; Osório et al, 2021 ; Schaaf & Lane, 2015 ; Tomchek & Dunn, 2007 ; Wiggins et al, 2009 ).In this context, using modality‐based approaches to the study of sensory systems could provide more information on how sensory modalities contribute to the different subtypes of sensory difficulties, and whether these are specific to one or more NDD (DeBoth & Reynolds, 2017 ).…”