scholarly journals Brief Report: Sensory processing phenotypes in Phelan-McDermid Syndrome and SYNGAP1-related Intellectual Disability

2020 ◽  
Author(s):  
Ariel M Lyons-Warren ◽  
Maria C McCormack ◽  
J. Lloyd Holder
Keyword(s):  
Intellectual Disability ◽  
Sensory Processing ◽  
Autism Spectrum ◽  
Sensory Profile ◽  
Typically Developing ◽  
Syndromic Autism ◽  
Sensory Features ◽  
Syndromic Asd ◽  
Underlying Mechanisms ◽  
Sensory Profiles

AbstractSensory processing differences are an established feature of both syndromic and non-syndromic Autism Spectrum Disorders (ASD). Significant work has been done to characterize and classify specific sensory profiles in non-syndromic Autism. However, it is not known if syndromic Autism disorders such as Phelan-McDermid Syndrome (PMD) or SYNGAP1-related Intellectual Disability (SYNGAP1-ID) have unique sensory phenotypes. Understanding the sensory features of these disorders is important for providing appropriate care and for understanding the underlying mechanisms of the disorders. In this manuscript we use the Short Sensory Profile-2 to characterize sensory features in 41 patients with PMD and 24 patients with SYNGAP1-ID and compare their responses to both expected results for typically developing children and published sensory profiles for non-syndromic ASD.

scholarly journals Sensory processing of children and students with autism spectrum disorder and typical development in relation to gender and age

2021 ◽  
Vol 20 (3) ◽  
pp. 185-201
Author(s):  
Ana Roknić ◽  
Sanja Vuković
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Sensory Information ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Typical Development ◽  
Educational Plan ◽  
Gender And Age ◽  
Sensory Profiles

Introduction. Sensory processing is a neurobiological process in which a person uses their senses, sends information to an appropriate reception and processing center, and responds to environmental stimulations. Previous research has shown that sensory processing difficulties are more common among people with autism spectrum disorder than among people of the typical population. Objectives. The aim of this paper was to determine the patterns of sensory processing in subjects of the typical population and subjects with autism spectrum disorder, as well as gender and age differences in sensory profiles in these groups of subjects. Methods. Using The Child Sensory Profile 2 as the measuring instrument, the characteristics of sensory processing were examined in 120 subjects of both genders, 60 subjects with autism spectrum disorder and 60 subjects of typical development, ages three to 13 years and 11 months. Results. The obtained results show that there are differences between the two groups of respondents and that these differences occur in all nine subscales of the instrument. It was found that subjects with autismspectrumdisorder hadmore difficulty in processing sensory information compared to subjects of the typical population, especially in the domain of tactile perception. The results also show that the quality of sensory information processing in both groups of respondents improved with age. In relation to the respondents' gender, the obtained differences were significant in the domain of the total score of the instrument, in favor of the boys, but this was not observed in the measurements on all subscales. Conclusion. In accordance with the above findings, when creating an individual educational plan, it is necessary to take into account all the specifics of sensory processing of children with autism spectrum disorder.

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

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Joana Maria Almeida Osório ◽  
Borja Rodríguez-Herreros ◽  
David Romascano ◽  
Vincent Junod ◽  
Aline Habegger ◽  
...  
Keyword(s):  
Sensory Processing ◽  
Autism Diagnostic Observation Schedule ◽  
Parent Report ◽  
Autism Spectrum ◽  
Sensory Profile ◽  
Small Subset ◽  
Typically Developing ◽  
Sensory Stimuli ◽  
Tactile Defensiveness ◽  
Processing Measure

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.

scholarly journals Sensory Processing and Aggressive Behavior in Adults with Autism Spectrum Disorder

2021 ◽  
Vol 11 (1) ◽  
pp. 95
Author(s):  
Frank van den Boogert ◽  
Bram Sizoo ◽  
Pascalle Spaan ◽  
Sharon Tolstra ◽  
Yvonne H. A. Bouman ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Aggressive Behavior ◽  
Sensory Processing ◽  
Short Form ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Sensory Sensitivity ◽  
Aggression Questionnaire ◽  
Adults With Asd

Autism spectrum disorder (ASD) may be accompanied by aggressive behavior and is associated with sensory processing difficulties. The present study aims to investigate the direct association between sensory processing and aggressive behavior in adults with ASD. A total of 101 Dutch adult participants with ASD, treated in outpatient or inpatient facilities, completed the Adolescent/Adult Sensory Profile (AASP), the Reactive-Proactive Aggression Questionnaire (RPQ), and the Aggression Questionnaire—Short Form (AQ-SF). Results revealed that sensory processing difficulties are associated with more aggressive behavior (f2=0.25), more proactive (f2=0.19) and reactive aggression (f2=0.27), more physical (f2=0.08) and verbal aggression (f2=0.13), and more anger (f2=0.20) and hostility (f2=0.12). Evidence was found for an interaction of the neurological threshold and behavioral response on total aggression and hostility. Participants with higher scores in comparison to the norm group in sensory sensitivity had the highest risk of aggressive behavior. In conclusion, clinical practice may benefit from applying detailed diagnostics on sensory processing difficulties when treating aggressive behavior in adults with ASD.

scholarly journals Implication of the Sensory Environment in Children with Autism Spectrum Disorder: Perspectives from School

2021 ◽  
Vol 18 (14) ◽  
pp. 7670
Author(s):  
Ana Gentil-Gutiérrez ◽  
José Luis Cuesta-Gómez ◽  
Paula Rodríguez-Fernández ◽  
Jerónimo Javier González-Bernal
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
School Factors ◽  
Cross Sectional ◽  
Sensory Stimuli ◽  
Children With Asd

(1) Background: Children with Autism Spectrum Disorder (ASD) frequently have difficulties in processing sensory information, which is a limitation when participating in different contexts, such as school. The objective of the present study was to compare the sensory processing characteristics of children with ASD in the natural context of school through the perception of professionals in the field of education, in comparison with neurodevelopmental children (2) Methods: A cross-sectional descriptive study as conducted with study population consisting of children between three and ten years old, 36 of whom were diagnosed with ASD and attended the Autismo Burgos association; the remaining 24 had neurotypical development. The degree of response of the children to sensory stimuli at school was evaluated using the Sensory Profile-2 (SP-2) questionnaire in its school version, answered by the teachers. (3) Results: Statistically significant differences were found in sensory processing patterns (p = 0.001), in sensory systems (p = 0.001) and in school factors (p = 0.001). Children with ASD who obtained worse results. (4) Conclusions: Children with ASD are prone to present sensory alterations in different contexts, giving nonadapted behavioral and learning responses.

scholarly journals Dissecting the phenotypic heterogeneity in sensory features in Autism Spectrum Disorder: a factor mixture modelling approach

2020 ◽  
Author(s):  
Julian Tillmann ◽  
Mirko Uljarevic ◽  
Daisy Crawley ◽  
Guillaume Dumas ◽  
Eva Loth ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Adaptive Functioning ◽  
Factor Model ◽  
Autism Spectrum ◽  
Factor Scores ◽  
Repetitive Behaviours ◽  
Mixture Modelling ◽  
Sensory Features ◽  
Restricted And Repetitive Behaviours

Abstract Background Heterogeneity in the phenotypic presentation of Autism Spectrum Disorder (ASD) is apparent in the profile and the severity of sensory symptoms. Here we applied Factor Mixture Modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and Attention-Deficit/Hyperactivity Disorder. Methods 332 children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile. Then, latent class models (with two-to-five subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup, seven-factor model. Results The ‘three-subgroup/seven-factor’ FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety. Limitations Results were derived using a single parent-report measure of sensory symptoms, the SSP, which has some notable construct limitations that constrain the generalisability of findings. Conclusion Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD.

scholarly journals Dissecting the phenotypic heterogeneity in sensory features in Autism Spectrum Disorder: a factor mixture modelling approach

2020 ◽  
Author(s):  
Julian Tillmann ◽  
Mirko Uljarevic ◽  
Daisy Crawley ◽  
Guillaume Dumas ◽  
Eva Loth ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Adaptive Functioning ◽  
Factor Model ◽  
Autism Spectrum ◽  
Factor Scores ◽  
Repetitive Behaviours ◽  
Mixture Modelling ◽  
Sensory Features ◽  
Restricted And Repetitive Behaviours

Abstract Background: Heterogeneity in the phenotypic presentation of Autism Spectrum Disorder (ASD) is apparent in the profile and the severity of sensory features. Here we applied Factor Mixture Modelling (FMM) to test a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and Attention-Deficit/Hyperactivity Disorder.Methods: 332 children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup, seven-factor model.Results: The ‘three-subgroup/seven-factor’ FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety.Limitations: Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings.Conclusion: Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD.

scholarly journals Hypo- and hyper- sensory processing heterogeneity in Autism Spectrum Disorder

2021 ◽  
Author(s):  
Aline Lefebvre ◽  
Julian Tillmann ◽  
Freddy Cliquet ◽  
Frederique Amsellem ◽  
Anna Maruani ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Sensory Processing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Deleterious Mutations ◽  
Short Sensory Profile ◽  
First Degree Relatives ◽  
Hyper Sensitivity ◽  
Glutamatergic Pathways

Abstract Background. Sensory processing atypicalities are part of the core symptoms of autism spectrum disorder (ASD) and could result from an excitation/inhibition imbalance. Yet, the convergence level of phenotypic sensory processing atypicalities with genetic alterations in GABA-ergic and glutamatergic pathways remains poorly understood. This study aimed to characterize the distribution of hypo/hyper-sensory profile among individuals with ASD and investigate the role of deleterious mutations in GABAergic and glutamatergic pathways related genes in sensory processing atypicalities. Method. From the Short Sensory Profile (SSP) questionnaire, we defined and explored a score – the differential Short Sensory Profile (dSSP) - as a normalized and centralized hypo/hypersensitivity ratio for 1136 participants (533 with ASD, 210 first-degree relatives, and 267 controls) from two independent study samples (PARIS and LEAP). We also performed an unsupervised item-based clustering analysis on SSP items scores to validate this new categorization in terms of hypo and hyper sensitivity. We then explored the link between the dSSP score and the burden of deleterious mutations in a subset of individuals for which whole-genome sequencing data were available. Results. We observed a mean dSSP score difference between ASD and controls, driven mostly by a high dSSP score variability among groups (PARIS: p<0.0001, η2 = 0.0001, LEAP: p<0.0001, Cohen’s d=3.67). First-degree relatives were with an intermediate distribution variability profile (p<0.0001). We also reported a positive developmental trajectory of the dSSP score (PARIS: p=0.0006, η2 = 0.02; LEAP: p=0.01, η2 = 0.01). Clusters were similarly characterized by hypo- and hyper-sensitivity items in both study samples (Cramer's V from 0.64 to 0.69, p<0.05). Our genetic analysis showed a trend only for an association with mutations of the GABAergic pathway.Limitations. The major limitation was the dSSP score difficulty to discriminate subjects with a similar quantum of hypo- and hyper- sensory symptoms to those with no such symptoms, resulting both in a similar ratio score of 0.Conclusion. The dSSP score could be a relevant clinical score of the hypo/hyper-sensory individual profile in subjects with ASD. Combined with additional sensory domain characteristics, genetics and endophenotypic substrates, the dSSP score will offer new avenues to explore the underlying neurobiological mechanisms of sensory processing atypicalities in ASD.

scholarly journals Sensory Behaviours and Resting Parasympathetic Functions among Children with and without ADHD

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Ivan Neil Gomez ◽  
Lissa Martha Domondon ◽  
Hector WH Tsang ◽  
Chetwyn CH Chan ◽  
Cynthia YY Lai
Keyword(s):  
Sensory Processing ◽  
Sensory Profile ◽  
Controlled Environment ◽  
Typically Developing ◽  
Experimental Protocol ◽  
Children With Adhd ◽  
Hyperactivity Disorder ◽  
Adhd Children ◽  
The Relationship ◽  
Moderate Positive Correlation

Previous studies suggest that parasympathetic functions support sensory behaviours. However, the relationship between sensory behaviours and parasympathetic functions remain inconclusive and inconsistent among children with and without attention-deficit hyperactivity disorder (ADHD). This research aims to examine the sensory behaviours and resting parasympathetic functions among children with and without ADHD. We compared sensory behaviours and baseline parasympathetic functions of 64 participants, with 42 typically developing and 24 ADHD male children aged 7–12 years. Sensory behaviours were evaluated using the sensory profile. Baseline parasympathetic functions were indexed using the normalized unit of heart rate variability high-frequency bands (HF n.u.). Children underwent an experimental protocol consisting of watching a silent cartoon movie while HF n.u. is continuously monitored, within a controlled environment. The results of this research showed significantly lower HF n.u. (t(64) = 7.84, p < 0.01 ) and sensory processing total score (t(64) = 14.13 =  p < 0.01 ) among children with ADHD compared to their typically developing peers. Likewise, a significant moderate positive correlation (r = 0.36, p < 0.05 ) was found between the HF n.u. and sensory profile total scores among children with ADHD. Children with ADHD have significantly lower resting state parasympathetic functions compared to their typically developing peers.

Atypical sensory profiles as core features of adult ADHD, irrespective of autistic symptoms

2017 ◽  
Vol 43 ◽  
pp. 51-57 ◽  
Author(s):  
D. Bijlenga ◽  
J.Y.M. Tjon-Ka-Jie ◽  
F. Schuijers ◽  
J.J.S. Kooij
Keyword(s):  
Adult Adhd ◽  
Autism Spectrum ◽  
Activity Level ◽  
Sensory Profile ◽  
Future Research ◽  
Autism Spectrum Quotient ◽  
Sensory Sensitivity ◽  
Autistic Symptom ◽  
Autistic Symptoms ◽  
Sensory Profiles

AbstractBackground:Abnormal sensory sensitivity is a feature of autism-spectrum disorder (ASD), but is also reported in attention-deficit/hyperactivity disorder (ADHD). In many cases, ADHD and ASD are comorbid. This study investigated the prevalence of sensory hyper- and hyposensitivity among adults with ADHD, controlling for autistic symptoms.Method:One hundred and sixteen adults diagnosed with ADHD completed the Adolescent/Adult Sensory Profile-NL (AASP-NL) and the Autism-spectrum Quotient (AQ) questionnaires. Prevalences of hyper- and hyposensitivity and autism-spectrum symptoms were compared to norm values. Multivariate binary logistic regressions were used to determine the association of autistic symptoms, age, gender, ADHD subtype, self-reported severity of ADHD symptoms, comorbid disorders, and use of medication on the sensory hypo- and hypersensitivity in adults with ADHD.Results:Adults with ADHD had more autistic symptoms, and they had both more hyper- and hyposensitivity compared to norm groups. This was especially apparent in the Activity level and Auditory sensory modalities. Sensory hypo- and hypersensitivity were both related to an increased ADHD score, even showing a dose-response relationship, but not to any autistic symptom or comorbid disorder. As much as 43% of the females with ADHD reported sensory hypo- and/or hypersensitivity, compared to 22% of the men.Conclusions:Sensory hypo- and hypersensitivity may be viewed as key features of adult ADHD, especially in females, regardless of any autistic symptoms. Future research should be directed at the implications of this sensory dysregulation for the understanding of the pathophysiology of (female) ADHD, and on the usefulness of assessment of atypical sensory profiles in the diagnostic procedure of ADHD in adults.

scholarly journals Why do Sensory Experiences in Autism Vary? An Explanation from Cognitive Linguistics

2017 ◽  
Vol 8 (1) ◽  
pp. 54
Author(s):  
Huma Batool ◽  
Wasima Shehzad
Keyword(s):  
Autism Spectrum Disorder ◽  
Cognitive Linguistics ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Sensory Profile ◽  
Human Beings ◽  
Daily Lives ◽  
Sensory Experiences ◽  
The World ◽  
Sensory Profiles

Sensory perceptual experiences are now directly associated with the diagnosis of Autism Spectrum Disorder (ASD). Given that autism is a heterogenous disorder, literature abounds in evidences that report varied sensory perceptual issues affecting daily lives of individuals with autism. One question that motivated the current study is “Why do they report to have varied sensory profiles?” The answer lies in the way their bodies interact with the world around them—theory of embodiment in cognitive linguistics. Thirteen children with autism were observed through SPCR (Sensory Profile Checklist Revised (Bogdashina, 2003)) against 20 categories, which Bogdashina (2003) refers to as their bodily resources. Out of seven modalities, only three—vision, hearing and proprioception—were studied for current study. The findings were consistent with the embodiment thesis offered by cognitive linguistics—human beings are embodied beings.

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