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      Is Open Access

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

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          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.

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          Most cited references72

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          Sensory Processing in Children With and Without Autism: A Comparative Study Using the Short Sensory Profile

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            Sensory processing subtypes in autism: association with adaptive behavior.

            Children with autism are frequently observed to experience difficulties in sensory processing. This study examined specific patterns of sensory processing in 54 children with autistic disorder and their association with adaptive behavior. Model-based cluster analysis revealed three distinct sensory processing subtypes in autism. These subtypes were differentiated by taste and smell sensitivity and movement-related sensory behavior. Further, sensory processing subtypes predicted communication competence and maladaptive behavior. The findings of this study lay the foundation for the generation of more specific hypotheses regarding the mechanisms of sensory processing dysfunction in autism, and support the continued use of sensory-based interventions in the remediation of communication and behavioral difficulties in autism.
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              Annotation: what do we know about sensory dysfunction in autism? A critical review of the empirical evidence.

              Unusual responses to sensory stimuli are seen in many children with autism. Their presence was highlighted both in early accounts of autism and in more recent first-person descriptions. There is a widespread belief that sensory symptoms characterize autism and differentiate it from other disorders. This paper examines the empirical evidence for this assumption. All controlled experimental laboratory investigations published since 1960 were identified through systematic searches using Medline/PubMed and PsycInfo search engines. A total of 48 empirical papers and 27 theoretical or conceptual papers were reviewed. Sensory symptoms are more frequent and prominent in children with autism than in typically developing children, but there is not good evidence that these symptoms differentiate autism from other developmental disorders. Certain groups, including children with fragile X syndrome and those who are deaf-blind, appear to demonstrate higher rates of sensory symptoms than children with autism. In reviewing the evidence relevant to two theories of sensory dysfunction in autism, over- and under-arousal theory, we find that there is very little support for hyper-arousal and failure of habituation in autism. There is more evidence that children with autism, as a group, are hypo-responsive to sensory stimuli, but there are also multiple failures to replicate findings and studies that demonstrate lack of group differences. The use of different methods, the study of different sensory modalities, and the changing scientific standards across decades complicate interpretation of this body of work. We close with suggestions for future research in this area.
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                Author and article information

                Contributors
                Joana.Almeida-Osorio@chuv.ch
                Borja.Rodriguez-Herreros@chuv.ch
                David.Romascano@chuv.ch
                Vincent.Junod@chuv.ch
                Aline.Habegger@unil.ch
                Aurelie.Pain@chuv.ch
                Sonia.Richetin@chuv.ch
                Paola.Suarez-Ramirez@chuv.ch
                Bertrand.ISIDOR@chu-nantes.fr
                lvanmaldergem@chu-besancon.fr
                linda.pons@chu-lyon.fr
                Sabine.Manificat@chuv.ch
                Nadia.Chabane@chuv.ch
                Marine.Jequier@chuv.ch
                Anne.Maillard@chuv.ch
                Journal
                Mol Autism
                Mol Autism
                Molecular Autism
                BioMed Central (London )
                2040-2392
                5 February 2021
                5 February 2021
                2021
                : 12
                : 8
                Affiliations
                [1 ]GRID grid.8515.9, ISNI 0000 0001 0423 4662, CHUV-Centre Hospitalier Universitaire Vaudois, Service des Troubles du Spectre de l’Autisme et apparentés, , Lausanne University Hospital, ; Les Allières – Av. Beaumont 23, 1011 Lausanne, Switzerland
                [2 ]GRID grid.8515.9, ISNI 0000 0001 0423 4662, Laboratory for Investigative Neurophysiology (LINE), Department of Radiology, , Lausanne University Hospital and University of Lausanne, ; Lausanne, Switzerland
                [3 ]GRID grid.277151.7, ISNI 0000 0004 0472 0371, Service de Génétique Médicale, , CHU-Nantes, ; Nantes, France
                [4 ]GRID grid.7459.f, ISNI 0000 0001 2188 3779, Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, , Université de Franche-Comté, ; Besançon, France
                [5 ]GRID grid.7459.f, ISNI 0000 0001 2188 3779, Unité de recherche en neurosciences intégratives et cognitives EA481, , Université de Franche-Comté, ; Besançon, France
                [6 ]GRID grid.7429.8, ISNI 0000000121866389, Centre d’investigation clinique 1431, , INSERM, ; Besançon, France
                [7 ]Service Génopsy - Pôle Hospitalo-Universitaire ADIS, Centre hospitalier Le Vinatier, Bron, France
                Author information
                http://orcid.org/0000-0002-4811-0693
                Article
                410
                10.1186/s13229-020-00410-w
                7863523
                33546725
                40744b00-202f-4f72-8d73-0851ac073bff
                © The Author(s) 2021

                Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

                History
                : 16 July 2020
                : 22 December 2020
                Funding
                Funded by: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (CH)
                Award ID: PMPDP3_171331
                Award Recipient :
                Funded by: Fondation Hoffmann (CH)
                Categories
                Research
                Custom metadata
                © The Author(s) 2021

                Neurosciences
                autism spectrum disorder (asd),16p11.2 deletion,copy number variants (cnv),sensory processing,touch,olfaction,children,sensory processing measure (spm)

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