Meta-analytic evidence of differential prefrontal and early sensory cortex activity during non-social sensory perception in autism

Jassim, Nazia; Baron‐Cohen, Simon; Suckling, John

doi:10.1016/j.neubiorev.2021.04.014

Cited by 25 publications

(12 citation statements)

References 106 publications

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“…Thus, our results in ASD would indicate a relatively increased salience attribution of geometric motion and decreased salience attribution of social motion. Whether atypical LC‐NE phasic activity as indexed by diverging pupillary patterns is the result of altered bottom‐up sensory processing (Jassim et al, 2021) or a function of different salience attribution by higher‐order cognitive functions (Green et al, 2016) remains to be differentiated.…”

Section: Discussionmentioning

confidence: 99%

Pupillometric measures of altered stimulus‐evoked locus coeruleus‐norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder

2022

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Attenuated social attention has been described as a reduced preference for social compared to geometric motion in preschoolers with autism spectrum disorder (ASD). The locus coeruleus-norpinephrine (LC-NE) system modulates sensory reactivity and is a promising underlying mechanism. LC-NE activity is indexed by a stimulus-evoked pupillary response (SEPR) and partially by a luminanceadaptation pupillary response (LAPR), which were both shown to be aberrant in ASD. We examined whether SEPR and LAPR explain an attenuated social motion preference. We applied pupillometry via video-based eye tracking in young children (18-65 months) with ASD (n = 57) and typically developing (TD) children (n = 39) during a preferential looking paradigm of competing social and geometric motion and a changing light condition paradigm. We found an attenuated social motion preference in the ASD compared to the TD group. This was accompanied by atypical pupillometry showing a smaller SEPR to social motion, a larger SEPR to geometric motion and a reduced LAPR to a dark screen. SEPR but not LAPR explained the group difference in social motion preference. An ASD diagnosis was statistically predicted by the social motion preference, while this effect was mediated by the inclusion of SEPR to geometric and social motion. Our findings suggest a decreased sensory reactivity to social and increased reactivity to non-social motion in ASD, which may concurrently contribute to an attenuated social attention. The LC-NE system is supported as a promising underlying mechanism of altered social attention in young children with ASD, while the specificity of findings remains to be addressed.

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Section: Discussionmentioning

confidence: 99%

Pupillometric measures of altered stimulus‐evoked locus coeruleus‐norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder

2022

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“…The unique superiority in visuospatial cognition observed in this specific autism subgroup may be concomitant with atypical functional resource allocation in regions associated with visual processing ( Jassim et al, 2021 , Samson et al, 2012 ) and an altered pattern of functional connectivity ( Belmonte et al, 2004 , Courchesne and Pierce, 2005 , Minshew and Keller, 2010 , O’Reilly et al, 2017 , Picci et al, 2016 ). In concert with decreased activation in certain frontal areas, stronger activation in parietal and occipital regions has been observed in autistics during tasks involving different types of stimuli (e.g., objects, faces, words; Samson et al, 2012 ) and even during complex cognitive tasks such as fluid reasoning ( Sahyoun et al, 2010 , Simard et al, 2015 , Soulières et al, 2009 , Yamada et al, 2012 ).…”

Section: Introductionmentioning

confidence: 98%

Differential neural correlates underlying mental rotation processes in two distinct cognitive profiles in autism

Thérien

Degré-Pelletier

Barbeau

et al. 2022

NeuroImage: Clinical

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“…Differently, high expression level was observed during post-birth periods in most brain regions ( Figure 3B ). To reveal a dynamic change of MAST3 in DEE-related and ASD-relevant brain regions during brain development, such as TC and DFC ( Ives-Deliperi and Butler, 2021 ; Jassim et al, 2021 ), a univariate linear regression analysis was applied. In TC and DFC, expression of MAST3 was significantly upregulated during the period of embryonic development (TC: R 2 = 0.785 and p = 3.403E-05, DFC: R 2 = 0.4958 and p = 0.0016) than that during the post-natal period (TC: R 2 = 0.332 and p = 0.002961, DFC: R 2 = 0.2463 and p = 0.0362) ( Figures 3C–F ).…”

Section: Resultsmentioning

confidence: 99%

“…More patients with MAST3 variants in DUF domain may yield a significant p -value. By applying univariate linear regression analysis using RNA sequencing data from BrainSpan, we found that in ASD-relevant brain region DFC and DEE-related brain region TC ( Ives-Deliperi and Butler, 2021 ; Jassim et al, 2021 ), the expression of MAST3 was significantly upregulated during brain development. From the co-expression analysis, nine DEE/NDD genes ( SYNGAP1, SYN1, IQSEC2, DNM1, PACS1, STXBP1, GRIN1, STX1B, and KIF1A ) were highly correlated with MAST3 .…”

Section: Discussionmentioning

confidence: 99%

The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association

Xiao

Qin

et al. 2022

Front. Mol. Neurosci.

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Objective: To prove microtubule associated serine/threonine kinase 3 (MAST3) gene is associated with neurodevelopmental diseases (NDD) and the genotype-phenotype correlation.Methods: Trio exome sequencing (trio ES) was performed on four NDD trios. Bioinformatic analysis was conducted based on large-scale genome sequencing data and human brain transcriptomic data. Further in vivo zebrafish studies were performed.Results: In our study, we identified four de novo MAST3 variants (NM_015016.1: c.302C > T:p.Ser101Phe; c.311C > T:p.Ser104Leu; c.1543G > A:p.Gly515Ser; and c.1547T > C:p.Leu516Pro) in four patients with developmental and epileptic encephalopathy (DEE) separately. Clinical heterogeneities were observed in patients carrying variants in domain of unknown function (DUF) and serine-threonine kinase (STK) domain separately. Using the published large-scale exome sequencing data, higher CADD scores of missense variants in DUF domain were found in NDD cohort compared with gnomAD database. In addition, we obtained an excess of missense variants in DUF domain when compared autistic spectrum disorder (ASD) cohort with gnomAD database, similarly an excess of missense variants in STK domain when compared DEE cohort with gnomAD database. Based on Brainspan datasets, we showed that MAST3 expression was significantly upregulated in ASD and DEE-related brain regions and was functionally linked with DEE genes. In zebrafish model, abnormal morphology of central nervous system was observed in mast3a/b crispants.Conclusion: Our results support the possibility that MAST3 is a novel gene associated with NDD which could expand the genetic spectrum for NDD. The genotype-phenotype correlation may contribute to future genetic counseling.

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Meta-analytic evidence of differential prefrontal and early sensory cortex activity during non-social sensory perception in autism

Cited by 25 publications

References 106 publications

Pupillometric measures of altered stimulus‐evoked locus coeruleus‐norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder

Pupillometric measures of altered stimulus‐evoked locus coeruleus‐norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder

Differential neural correlates underlying mental rotation processes in two distinct cognitive profiles in autism

The Role of Microtubule Associated Serine/Threonine Kinase 3 Variants in Neurodevelopmental Diseases: Genotype-Phenotype Association

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