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

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.

Exploring Sensory Subgroups in Typical Development and Autism Spectrum Development Using Factor Mixture Modelling

This study uses factor mixture modelling of the Short Sensory Profile (SSP) at two time points to describe subgroups of young autistic and typically-developing children. This approach allows separate SSP subscales to influence overall SSP performance differentially across subgroups. Three subgroups were described, one including almost all typically-developing participants plus many autistic participants. SSP performance of a second, largely-autistic subgroup was predominantly shaped by a subscale indexing behaviours of low energy/weakness. Finally, the third subgroup, again largely autistic, contained participants with low (or more “atypical”) SSP scores across most subscales. In this subgroup, autistic participants exhibited large P1 amplitudes to loud sounds. Autistic participants in subgroups with more atypical SSP scores had higher anxiety and more sleep disturbances.

The association between sensory traits and daily parenting challenges of typical mothers and their children

Introduction Sensory modulation impacts daily family life; however, parents’ sensory traits are rarely considered and analysed together with their child’s. This study aimed to: (1) determine the association between healthy child and mother sensory modulation traits and (2) examine how these traits interact in predicting daily parenting challenges. Method Seventy-three healthy mothers of typically developing 3–6-year-old children completed the Short Sensory Profile, Adult/Adolescent Sensory Profile and Parenting Daily Hassles questionnaires. Mother and child sensory over-responsivity (SOR), under-responsivity (SUR) and seeking traits were entered as predictors of frequency of daily hassles. Results Mother and child’s SOR and SUR traits were significantly associated ( r = .33 and .25, respectively). The frequency of parenting challenges was significantly associated with both mother and child’s sensory seeking ( r = .25 and .26, respectively). A mediation model demonstrated a significant indirect effect of mother SOR on the frequency of daily hassles ( β = .26, p < .05), with the child’s SOR ( β = .33, p < .01), and seeking behaviours ( β = .48, p < .001) mediating this effect. Conclusion Mothers with elevated sensory traits of children with elevated sensory traits are likely to experience higher frequencies of daily parenting burden, even within the typical population. Therapists who wish to practice a developmental and family-centred approach should assess how the mother–child sensory traits interact and how this interaction can influence the family’s well-being.

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

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.

ASSESSMENT OF SENSORY PROCESSING CHARACTERISTICS IN CEREBRAL PALSY CHILDREN

ABSTRACT AIMS & OBJECTIVES Children with cerebral palsy present with the complain of motor and sensory deficits. The movement and posture difficulties are well addressed by the rehabilitation team; however, sensory deficits remain unaddressed. Therefore, this study aims to assess the sensory processing characteristics in Spastic Diplegic children using Short Sensory Profile. METHODOLOGY This cross-sectional study was conducted at special education institutes/schools of Karachi. The Cerebral Palsy children with Spastic Diplegia aged 4-15 years were enrolled through Non-Probability Convenience Sampling Technique. Data was collected from parents/guardians of the participants using Short Sensory Profile questionnaire. RESULTS A sample of 70 participants was obtained out of 133 with a highest reported mean score of 17.38 in Tactile Sensitivity, while lowest in Taste/Smell and Movement Sensitivity i.e. 8.77 and 6.12 respectively. Moreover, a significant weak correlation was determined between Tactile and Movement Sensitivity (p<0.05). CONCLUSION It was found that all CP children enrolled in the study were showing Atypical sensory performance on Short Sensory Profile. Further investigation is required to establish psychometric properties of Short Sensory Profile on CP population and understand the correlation of sensory modulation impairments with functional performance for better intervention outcome for CP children.

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

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.