scholarly journals Cluster Analysis of Short Sensory Profile Data Reveals Sensory-based Subgroups in Autism Spectrum Disorder

2021 ◽  
Author(s):  
Ariel Maia Lyons-Warren ◽  
Ying-Wooi Wan
Keyword(s):  
Autism Spectrum Disorder ◽  
Cluster Analysis ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Targeted Interventions ◽  
Short Sensory Profile ◽  
Sensory Features ◽  
Variant Frequency

Abstract Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social interactions and communication. Additional features include restricted, repetitive patterns of behaviors, and differences in sensory processing. The clinical presentation of patients with ASD is heterogeneous, likely reflecting multiple underlying etiologies. Heterogeneity in presentation and treatment response are barriers to development of precise therapeutic approaches. Therefore, identification of clinically meaningful subgroups within ASD is critical to develop targeted interventions. We hypothesized that sensory features can be used to identify clinically recognizable subgroups with shared underlying etiologies. Methods: Subjects included 378 individuals with a clinical diagnosis of ASD who contributed Short Sensory Profile (SSP) data assessing the frequency of sensory behaviors and whole genome sequencing results to the Autism Speaks’ MSSNG database. To determine if the SSP could be used to subgroup individuals with ASD, we performed cluster analysis on responses to all 38 questions, followed by an independent cluster analysis using only a subset of questions selected specifically to assay hyper- and hypo-sensitivity to sensory stimulation. Cross-validation of the resulting clusters determined the final subgroups. To test for shared underlying etiologies, we correlated variant frequency across subgroups for each of 24,896 genes. Variant frequency included any variation in each gene regardless of the type of variant. To be significantly associated with a subgroup, a gene variant frequency had to be greater than four standard deviations (SD) from the mean frequency for all subgroups and 3 SD different from each subgroup.Results: We identified seven distinct sensory-based ASD subgroups. Subgroup 1, characterized by atypical scores in all sensory areas, was not associated with any genes. Subgroups 2, 4 and 6 were significantly associated with four to six genes each. Subgroups 3, 5 and 7 were enriched for 126, 12 and 50 genes, respectively. Limitations: This study was performed using retrospective data that did not include other phenotypic data such as age, comorbidities, or measures of disease severity. All those likely contribute to the variability of the identified subgroupsConclusions: These results support the use of sensory features to identify ASD subgroups with shared genetic mechanisms.

scholarly journals Psychometric Evaluation of the Short Sensory Profile in Youth with Autism Spectrum Disorder

2018 ◽  
Vol 48 (12) ◽  
pp. 4231-4249 ◽  
Author(s):  
Zachary J. Williams ◽  
Michelle D. Failla ◽  
Katherine O. Gotham ◽  
Tiffany G. Woynaroski ◽  
Carissa Cascio
Keyword(s):  
Autism Spectrum Disorder ◽  
Psychometric Evaluation ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Short Sensory Profile

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.

SHORT SENSORY PROFILE: ADAPTATION MADE WITH THE UKRAINIAN SAMPLE OF HEALTHY CHILDREN AND CHILDREN WITH AUTISM SPECTRUM DISORDER

2020 ◽  
pp. 44-57
Author(s):  
Yu. V. Vakulenko
Keyword(s):  
Autism Spectrum Disorder ◽  
Children And Adolescents ◽  
Sensory Information ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Healthy Children ◽  
Psychometric Characteristics ◽  
Short Sensory Profile

The article describes and analyzes the questionnaire “Short Sensory Profile (SSP)”. The original variant of the Profile, its features and advantages in using as a diagnostic tool and as an informational material describing for parents the specifics of their children’s disorders are described. The impaired processing and integration of sensory information characteristic for healthy children and children with autism spectrum disorder (ASD) is examined. Attention is drawn that sensory features and its violations characteristic for healthy and ASD children should be researched with a Ukrainian sample. The results of SSP adaptation and validation with the sample of Ukrainian children are presented. The questionnaire was translated into Ukrainian language from the original one (English) by a professional interpreter. The adapted version passed an asymmetrical translation, which helped to preserve the meanings of used statements and comply with the requirements of language clarity and certainty. The parents of 506 children (293 healthy children and 213 children with autism spectrum disorder) took part in the questionnaire adaptation; they filled the questionnaire about their children’s sensory patterns. Children were further divided into 6 groups by age and the presence / absence of a diagnosed autism spectrum disorder. Excel 2016 was used to calculate the scores, and IBM SPSS v.23 statistical application was used to check the psychometric characteristics of the questionnaire. The SSP psychometric characteristics, such as internal consistency of the statements, retest reliability, obvious validity, validity by the criteria and constructive validity, were at high and sufficient levels. The procedure and interpretation of the study results were standardized. For this, the frequency distribution was calculated by the general indicator and additionally by age groups to determine the severity of sensory disturbances in children and adolescents. According to the results of frequency distribution, the overall distribution of scores was determined, which gave the possibility to determine the presence and severity of the violations in processing and integration of sensory information by children and adolescents.

scholarly journals Longitudinal Study of Sensory Features in Children with Autism Spectrum Disorder

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Lucia Perez Repetto ◽  
Emmanuelle Jasmin ◽  
Eric Fombonne ◽  
Erika Gisel ◽  
Mélanie Couture
Keyword(s):  
Autism Spectrum Disorder ◽  
Assessment Tool ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Children With Asd ◽  
Sensory Features ◽  
Severity Scores ◽  
The Stability

Background. Between 45 and 95% of children with Autism Spectrum Disorder (ASD) present sensory features that affect their daily functioning. However, the data in the scientific literature are not conclusive regarding the evolution of sensory features in children with ASD. The main objective of this study was to analyze the sensory features of children within the age of 3-4 (T1) when they received their ASD diagnosis and two years later (T2) when they started school. Methods. We conducted a prospective cohort study to assess sensory features in 34 children with ASD over time. The data were collected using a standardized assessment tool, the Sensory Profile. Results. Our analyses show that sensory features in children with ASD are stable from the age of three to six years. The stability of sensory scores is independent of correction by covariates, such as cognitive level and autism severity scores. Conclusions. Children with ASD have sensory features that persist from the time of diagnosis at the age of 3 to 4 years to school age. This persistence of sensory features from an early age underscores the need to support these children and their parents. Sensory features should be detected early and managed to improve functional and psychosocial outcomes.

How Are They Doing? Neurodevelopmental Outcomes at School Age of Children Born Following Assisted Reproductive Treatments

2020 ◽  
pp. 088307382096716
Author(s):  
Adel Farhi ◽  
Saralee Glasser ◽  
Lidia V. Gabis ◽  
Galit Hirsh-Yechezkel ◽  
Shay Frank ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Treatment Group ◽  
Developmental Coordination Disorder ◽  
Multivariable Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Short Sensory Profile ◽  
Assisted Reproductive Treatment ◽  
Coordination Disorder

Objective: The purpose of this study was to assess major neurodevelopmental aspects of children conceived by assisted reproductive treatments compared to spontaneously conceived children during the early school years. Material & Methods: In this follow-up study, mothers of 358 children born following assisted reproductive treatments and 401 spontaneously-conceived children were interviewed by telephone regarding their children’s health and development, when the children were 7-8 years old. The main outcomes were maternal responses to 4 questionnaires: Developmental Coordination Disorder Questionnaire, Short Sensory Profile, Autism Spectrum Screening Questionnaire, and the Attention-deficit hyperactive disorder (ADHD) Child Symptom Inventory-4 subscale. Mothers reported diagnoses of ADHD and autism spectrum disorder. Results: No significant differences were found between the groups in Developmental Coordination Disorder Questionnaire or Short Sensory Profile scores upon univariate or multivariable analyses. There was a slightly higher but nonsignificant rate of diagnosed ADHD among children in the assisted reproductive treatment group (9.6% vs 5.5%; P = .18); on multivariable analysis, a nonsignificant increase in ADHD was also found for assisted reproductive treatment children (hazard ratio 1.45, 95% confidence interval 0.81-2.61). Regarding the Child Symptom Inventory-4 criteria for ADHD among the children who had never been diagnosed, there was also a slightly higher but nonsignificant rate among the assisted reproductive treatments compared to spontaneously-conceived children on univariate (2.4% vs 1.8%; P = .50) and multivariable analysis (odds ratio 0.88, 95% confidence interval 0.27-2.86). Autism spectrum disorder diagnosis or Autism Spectrum Screening Questionnaire scores were not significantly different; however, 5 of the 6 children with autism spectrum disorder diagnoses were in the assisted reproductive treatment group. Conclusions: Neurodevelopmental measures were similar in both groups, although nonconclusive regarding ADHD and autism spectrum disorder risk. These findings contribute to the knowledge regarding long-term assisted reproductive treatment outcomes.

Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Caloric Intake ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nutritional Deficiencies ◽  
Childhood And Adolescence ◽  
Restricted Interests ◽  
Balanced Diet ◽  
The Individual

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.

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 Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZWT/Q1038R mouse model of autism spectrum disorder

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kohei Kitagawa ◽  
Kensuke Matsumura ◽  
Masayuki Baba ◽  
Momoka Kondo ◽  
Tomoya Takemoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Behavior ◽  
Mouse Model ◽  
Mouse Models ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Behavioral Deficits

AbstractAutism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder characterized by core symptoms of impaired social behavior and communication. Recent studies have suggested that the oxytocin system, which regulates social behavior in mammals, is potentially involved in ASD. Mouse models of ASD provide a useful system for understanding the associations between an impaired oxytocin system and social behavior deficits. However, limited studies have shown the involvement of the oxytocin system in the behavioral phenotypes in mouse models of ASD. We have previously demonstrated that a mouse model that carries the ASD patient-derived de novo mutation in the pogo transposable element derived with zinc finger domain (POGZWT/Q1038R mice), showed ASD-like social behavioral deficits. Here, we have explored whether oxytocin (OXT) administration improves impaired social behavior in POGZWT/Q1038R mice and found that intranasal oxytocin administration effectively restored the impaired social behavior in POGZWT/Q1038R mice. We also found that the expression level of the oxytocin receptor gene (OXTR) was low in POGZWT/Q1038R mice. However, we did not detect significant changes in the number of OXT-expressing neurons between the paraventricular nucleus of POGZWT/Q1038R mice and that of WT mice. A chromatin immunoprecipitation assay revealed that POGZ binds to the promoter region of OXTR and is involved in the transcriptional regulation of OXTR. In summary, our study demonstrate that the pathogenic mutation in the POGZ, a high-confidence ASD gene, impairs the oxytocin system and social behavior in mice, providing insights into the development of oxytocin-based therapeutics for ASD.

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