ABSTRACT
La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)
The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic DisorderABSTRACT
La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)
The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Educational Technology , Autism Spectrum Disorder , Autistic DisorderABSTRACT
Unlike other functional integration methods that examine the relationship and correlation between two channels, effective connection reports the direct effect of one channel on another and expresses their causal relationship. In this article, we investigate and classify electroencephalographic (EEG) signals based on effective connectivity. In this study, we leverage the Granger causality (GC) relationship, a method for measuring effective connectivity, to analyze EEG signals from both healthy individuals and those with autism. The EEG signals examined in this article were recorded during the presentation of abstract images. Given the nonstationary nature of EEG signals, a vector autoregression model has been employed to model the relationships between signals across different channels. GC is then used to quantify the influence of these channels on one another. Selecting regions of interest (ROI) is a critical step, as the quality of the time periods under consideration significantly impacts the outcomes of the connectivity analysis among the electrodes. By comparing these effects in the ROI and various areas, we have distinguished healthy subjects from those suffering from autism. Furthermore, through statistical analysis, we have compared the results between healthy individuals and those with autism. It has been observed that the causal relationship between these two hemispheres is significantly weaker in healthy individuals compared to those with autism.
ABSTRACT
Introduction: Over the past few decades, there has been growing concern about the concurrent trends of increasing Autism Spectrum Disorder (ASD) prevalence and declining sperm quality. These trends represent significant public health challenges that warrant thorough investigation of their underlying causes and implications. Objectives: The primary objectives of this study are to analyze trends in ASD prevalence and sperm quality parameters from 2000 to 2024, assess the statistical significance and effect size of these trends, explore potential correlations between ASD prevalence and sperm quality parameters, and identify significant predictors among sperm quality parameters that influence ASD prevalence. Methods: This study employed a longitudinal approach using multiple regression, time series analysis, ANOVA, Principal Component Analysis (PCA), hierarchical clustering, logistic regression, and cross-correlation analysis. Data on ASD prevalence were sourced from the CDC Autism and Developmental Disabilities Monitoring Network, while sperm quality data were collected from various published studies. Results: The findings reveal significant negative associations between ASD prevalence and sperm quality parameters such as sperm concentration and motility, suggesting that better sperm quality is linked to lower ASD rates. Conversely, parameters like sperm DNA fragmentation (SDF), volume of ejaculate, pH level, and semen viscosity show positive associations with ASD prevalence, indicating higher values in these parameters correlate with higher ASD rates. Conclusion: The study highlights the importance of maintaining reproductive health to potentially mitigate ASD risk and calls for further research to elucidate the underlying mechanisms driving these trends. These findings support the hypothesis that reproductive health factors play a crucial role in ASD etiology and suggest potential biological markers for assessing ASD risk.
ABSTRACT
INTRODUCTION: Very preterm birth is an important risk factor for autism spectrum disorder (ASD). The aim of this study is the early detection of ASD risk, using a follow-up protocol, in children weighing less than 1500 g at birth or born before 32 weeks of gestation. METHODS: This is a prospective longitudinal study in which a total of 133 very premature babies were monitored to the age of 2 years with the M-CHAT autism screening test and, in the event of a positive result, the Autism Diagnostic Observation Schedule (ADOS-2). RESULTS: 53 cases (4 out of 10) screened positive, and the rest negative. Among the positives, the ADOS-2 was administered in 50 cases, of which 24 scored above the ASD cutoff point. The average age of detection was 25.39 months. The results suggest an estimated prevalence of ASD in the very premature population of 18.46 %. CONCLUSIONS: The application of the follow-up protocol in the very premature population is effective for early detection of ASD.
ABSTRACT
Evidence suggests different mismatch negativity (MMN) and P3a responses in individuals with autism spectrum disorder (ASD). Since unaffected siblings shared aberrant neurocognition and brain connectivity with ASD probands, this study investigated MMN and P3a responses in unaffected siblings and explored its neurocognitive implications and effects modifiers. We assessed 43 unaffected siblings of ASD probands and 64 non-autistic comparisons (NTC) using MMN and P3a on both frequency and duration oddball paradigms. The amplitude and latency of MMN and P3a were compared between unaffected siblings and NTC, and validated in 67 ASD probands. In addition, the neurocognitive correlates of MMN and P3a parameters were explored in attention performance, spatial working memory (SWM), and visual research via the tasks of the Conners' Continuous Performance Test and the Cambridge Neuropsychological Test Automated Battery. Compared to NTC, unaffected siblings and ASD probands presented a shorter MMN latency. The P3a amplitude of the duration paradigm (dP3a) was correlated with fewer commission errors, fewer SWM total errors, higher detectability, and more correct responses on visual search tasks. In addition, the dP3a amplitude significantly interacted with sibship, age, and full-scale IQ to predict attention performance, SWM total errors, and total correct response on visual search. Findings suggest that unaffected siblings of ASD may have earlier brain responses upon novelty discrimination. P3a amplitude may correlate with better neurocognitive performance, but the effect was moderated by sibship, age, and intelligence.
ABSTRACT
Grandparents play different roles in families of children and adolescents on the autism spectrum. They are frequently engaged in caregiving tasks with the person on the autism spectrum, providing emotional and instrumental support to the family. However, despite their frequent involvement and the importance of their role in the family, there are few studies that address the experiences of these grandparents, particularly in the Spanish and southern Europe context. This study explores the impact and needs of having a grandchild on the autism spectrum and the resources that grandparents have and use to face the difficulties that arise. A semi-structured interview was carried out with 17 grandparents of children and adolescents on the autism spectrum. We conducted a coding reliability thematic analysis of the impact and used a quantitative content analysis of grandparents' needs and resources. Results indicated three main aspects related to the impact: personal growth, wanting to help and not being able to, and suffering at three levels: for themselves, their sons and daughters, and grandchildren. Grandparents perceived needs in four contexts: their own needs, the needs of the nuclear family, the needs of the person on the autism spectrum, and the needs of society. The most frequent needs were informational and management of behavioral difficulties. In the resources, the most frequently used strategies were religious beliefs and informal support seeking. It is essential to address the quality of parents-grandparents' relationships, and include grandparents in intervention programmes, as a way of addressing grandparents' needs.
ABSTRACT
PURPOSE: To explore actions taken by health care professionals during a procedure with a child with autism spectrum disorder DESIGN AND METHOD: Critical incident technique was used, which is a technique with a qualitative descriptive retrospective design, to capture situations experienced by health care professionals during a procedure in an anaesthesia or radiology department. Health care professionals from anaesthesia and radiology departments (n = 20) were interviewed about situations affecting the procedure. RESULTS: The findings revealed a broad range of actions (n = 205) taken by the health care professionals during a procedure with a child with autism spectrum disorder. The analysis resulted in two main areas: Finding a way to facilitate a procedure in a high technology environment and Creating a trustful relationship with a child with autism spectrum disorder. The most common action in the first area, was to adjust routines. In the second area the most common action was to take one step at a time and not force or rush the child during the procedure. PRACTICE IMPLICATIONS: The health care professionals used a broad range of different actions to facilitate a procedure in the high technology environment for a child with ASD, which indicates the need for a flexible approach. The actions taken included both adjustments to the environment and enhancing interactions with the child.
Subject(s)
Autism Spectrum Disorder , Humans , Male , Female , Child , Retrospective Studies , Child, Preschool , Health Personnel/psychology , Qualitative Research , AdultABSTRACT
Sex heterogeneity has been frequently reported in autism spectrum disorders (ASD) and has been linked to static differences in brain function. However, given the complexity of ASD and diagnosis-by-sex interactions, dynamic characteristics of brain activity and functional connectivity may provide important information for distinguishing ASD phenotypes between females and males. The aim of this study was to explore sex heterogeneity of functional networks in the ASD brain from a dynamic perspective. Resting-state functional magnetic resonance imaging data from the Autism Brain Imaging Data Exchange database were analyzed in 128 ASD subjects (64 males/64 females) and 128 typically developing control (TC) subjects (64 males/64 females). A sliding-window approach was adopted for the estimation of dynamic amplitude of low-frequency fluctuation (dALFF) and dynamic functional connectivity (dFC) to characterize time-varying brain activity and functional connectivity respectively. We then examined the sex-related changes in ASD using two-way analysis of variance. Significant diagnosis-by-sex interaction effects were identified in the left anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC) and left precuneus in the dALFF analysis. Furthermore, there were significant diagnosis-by-sex interaction effects of dFC variance between the left ACC/mPFC and right ACC, left postcentral gyrus, left precuneus, right middle temporal gyrus and left inferior frontal gyrus, triangular part. These findings reveal the sex heterogeneity in brain activity and functional connectivity in ASD from a dynamic perspective, and provide new evidence for further exploring sex heterogeneity in ASD.
ABSTRACT
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is often present in people with intellectual disability (ID) and autism. However, few ADHD measures have been developed specifically for individuals with these conditions. There is little literature exploring how well ADHD measures are performing at picking up specific symptoms at the item level. METHODS: Analyses were conducted on data from 122 children aged 7-15 years old with diagnoses of both ADHD and ID enrolled in the Hyperactivity and Special Educational Needs trial. Parents and teachers completed ratings of ADHD symptoms on the Aberrant Behavior Checklist (ABC) hyperactivity subscale and the revised Conners' Rating Scales hyperactivity scale and ADHD index. Cronbach's alpha was used to examine the reliability of these measures. Item response theory explores the performance of individual items. Multiple indicators, multiple causes models were used to test for measurement invariance by ID severity, co-occurring autism traits and child age. RESULTS: The reliability of parent and teacher reports of ADHD symptoms on the Conners' and ABC was acceptable across the range of ID. Item performance was generally good, and information was provided across the continuum of ADHD traits. Few items on either measure were non-invariant (i.e., item endorsement generally did not differ based on other child characteristics). When non-invariance was found, the effect was small. CONCLUSIONS: Both the parent-reported and teacher-reported versions of the Conners' hyperactivity scale and ADHD index and the ABC hyperactivity subscale appear to function well in the current sample of children with co-occurring ADHD and ID.
ABSTRACT
Oral folinic acid has shown potential to improve symptoms in children with autism spectrum disorder (ASD). However, randomized controlled trials (RCTs) are limited. This double-blind, placebo-controlled RCT aimed to compare changes in Childhood Autism Rating Scale (CARS) scores in children with ASD aged 2-10 years, among folinic acid (2 mg/kg/day, maximum of 50 mg/day) and placebo groups at 24 weeks, in comparison with baseline. Both the groups received standard care (ABA and sensory integration therapy). Secondary objectives included changes in behavioral problems measured by the Child Behavior Checklist (CBCL) and serum levels of anti-folate receptor autoantibodies and folic acid, correlated with changes in autism symptom severity. Out of the 40 participants recruited in each group, 39 and 38 participants completed the 24-week follow-up in the folinic acid and placebo groups, respectively. The change in CARS score was higher in the folinic acid group (3.6 ± 0.8) compared to the placebo group (2.4 ± 0.7, p < 0.001). Changes in CBCL total score and CBCL internalizing score were also better in the folinic acid group (19.7 ± 9.5 vs. 12.6 ± 8.4 and 15.4 ± 7.8 vs. 8.5 ± 5.7, p < 0.001 for both). High-titer anti-folate receptor autoantibodies were positive in 32/40 and 33/40 cases in the folinic acid and placebo groups, respectively (p = 0.78). In the placebo group, improvement in CARS score was comparable regardless of autoantibody status (p = 0.11), but in the folinic acid group, improvement was more pronounced in the high-titer autoantibody group (p = 0.03). No adverse reactions were reported in either group. CONCLUSIONS: Oral folinic acid supplementation is effective and safe in improving ASD symptoms, with more pronounced benefits in children with high titers of folate receptor autoantibodies. TRIAL REGISTRATION: CTRI/2021/07/034901, dated 15-07-2021. WHAT IS KNOWN: ⢠Folate receptor autoantibodies are more prevalent in children with autism spectrum disorder (ASD) compared to typically developing children. ⢠Folate receptor autoantibodies play a significant role in the neuropathogenesis of autism spectrum disorder. WHAT IS NEW: ⢠Add-on oral folinic acid supplementation is safe and effective in reducing the severity of symptoms in children with ASD. ⢠The clinical benefits are more pronounced in children with high titers of folate receptor autoantibodies.
ABSTRACT
OBJECTIVE: The present study investigated whether autistic adults report different levels of mental imagery vividness than non-autistic adults, and, moreover, if autism is associated with aphantasia which is defined as a condition of reduced or absent voluntary imagery. DESIGN AND METHODS: Clinically diagnosed and self-identifying autistic participants were compared with non-autistic participants in their mental imagery vividness (vision, sound, smell, taste, touch, bodily sensation and emotional feeling) and autistic traits using an online survey (N = 121). RESULTS: The autistic group scored significantly lower than the non-autistic group on imagery vividness (d = -0.44), in addition to having a higher proportion of participants scoring at cut-off for aphantasia. Moreover, a similar difference was observed for the emotional feel (η2 = 0.11). CONCLUSION: The vividness of visual and emotional mental imagery was on average lower for autistic individuals, with a higher proportion presenting at cut-off to be considered an aphantasic.
ABSTRACT
Background: Physical activity during early development is closely related to health. Differences in physical activity between young children with autism spectrum disorder and those with typical development are unclear. The purpose of this study was to compare the physical activity levels in children with autism spectrum disorder and typically developing children from the same area, including their sedentary physical activity, light physical activity, moderate-to-vigorous physical activity, and number of days in which the moderate-to-vigorous physical activity guideline recommendation of 60 min per day was met. Methods: A total of 77 participants aged 3-6 years were included: 41 children with autism spectrum disorder (mean age = 61.41 ± 10.69 months) and 36 children with typical development (mean age = 60.36 ± 10.16 months). The physical activity of the children was measured using an ActiGraph GT3x accelerometer. Results: There were no significant differences in daily sedentary physical activity (439.70 ± 54.98 vs. 450.42 ± 53.67) or moderate-to-vigorous physical activity (46.62 ± 18.93 vs. 47.47 ± 18.26) between the two groups. The average daily moderate-to-vigorous physical activity of the two groups did not reach 60 min, and they had similar proportions of participants who reached 60 min a given number of times (24.4% vs. 25%). Daily light physical activity was significantly higher in the autism spectrum disorder group (263.96 ± 43.17 vs. 242.32 ± 37.91, p < 0.05). The moderate-to-vigorous physical activity of both groups was similar and lower than the recommended minimum physical activity. Conclusion: Targeted interventions should be considered in early intervention programs for children with autism spectrum disorder to increase their moderate-to-vigorous physical activity.
ABSTRACT
Introduction: Resolution of a child's diagnosis, the process of accepting and adjusting to the reality of a child's significant diagnosis, has been often associated with decreased parental stress. Hope, a potential buffer against psychological distress, has been suggested as a potential explanation for this relationship. However, the mediating role of hope in the relationship between resolution of diagnosis and parental stress has not been explored. Methods: This study aimed to examine whether four types of hope (child, parental, societal, denial of diagnosis) mediated the relationship between resolution to an autism diagnosis and reduced parental stress. Participants included 73 parents (Mage = 43.22, SD = 7.69, female 97.3%) of autistic children (Mage = 11.15, SD = 4.56, male = 67.1%). Results: Resolution to diagnosis was negatively and significantly correlated with resolution to diagnosis, as well as child, parental and societal hope. These three hopes were also significantly and negatively correlated with parental stress. Importantly, when controlling for level of support and autism awareness, parental hope mediated the relationship between resolution to diagnosis and parental stress. Denial of diagnosis was not correlated with resolution or parental stress but did have significant but weak associate with the other hopes. Discussion: These findings suggest that hope based on parent's abilities to support their child and be supported themselves play an important role in parental stress once parents are more resolved to their child's diagnosis. Supporting parents to manage factors associated with supporting their child's needs, may benefit parents of autistic children.
ABSTRACT
On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.
A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop Phelan-McDermid Syndrome, a rare genetic disorder linked to the SHANK3 gene, manifests in a spectrum of clinical phenotypes including intellectual disability, autism spectrum disorder, and epilepsy. Epilepsy has been particularly under-investigated in this syndrome, and most of the animal models studied to date do not display seizures. On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identity gaps in knowledge surrounding SHANK3-related epilepsy. Conference attendees included patient families, basic scientists, clinical researchers, clinicians and representatives from the pharmaceutical industry with interest in SHANK3-related epilepsy. This review summarizes the outcome of this conference, including a summary of current state of knowledge and resources available, gaps in our understanding, priorities for future research in this important manifestation of PMS.
ABSTRACT
BACKGROUND: One of the most crucial objectives in the education and treatment of young children with autism spectrum disorder (ASD) is independence in daily living skills (DLS). Therefore, as a child with ASD condition grows, measures of everyday functioning including adaptive behaviors should be more regularly monitored and regulated. AIM: The primary aim of this study was to evaluate the feasibility of a developed theory-based training program and its preliminary effectiveness on the acquisition of DLS among school-age children with ASD. METHODS: A preliminary experimental research design (pre- and post-evaluation) was conducted from the beginning of May to the end of July 2023 on 31 children with ASD. The socio-economic status scale, Vineland Adaptive Behavior Scale, and Gilliam Autism Rating Scale were administered before and after a theory-based DLS training program. RESULTS: There was a significant difference in the DLS and motor functioning before and after the implementation of the training program (p < .001 and p = .021, respectively). In addition, there was a significant difference in the total score of autistic severity before and after the implementation of the training program (p < .001). CONCLUSION: The promising outcomes of the study indicate the need for further testing and expansion of this intervention. These findings contribute to the growing body of evidence highlighting the significance of DLS training program in the comprehensive treatment approach for children with ASD. Consequently, proposing DLS training programs as a cost-effective and efficient nursing intervention is warranted.
ABSTRACT
Empathy impairments are considered a key aspect of autism-spectrum disorders (ASD). Previous research consistently shows reduced cognitive empathy, but findings on affective empathy vary, possibly due to experimental design variations (e.g., stimulus modality, social distance) and individual psychological factors (e.g., perceptual abilities, emotional reactivity). This study aims to clarify deficits in affective and cognitive empathy in ASD by addressing these contributing factors. Empathy was examined in 34 autistic individuals and 33 typically developed controls (TDCs) through the Textual Empathy Test (TET). The TET was developed to assess emotional responses when imagining oneself (emotional reactivity) as compared to a target person (friend, stranger) in emotional situations presented via short verbal descriptions. Participants rated emotional states of the target person (cognitive empathy) as well as their own emotional responses when imagining the target person in that situation (affective empathy). Ratings were interpreted relative to normative mean values through standardized regression coefficients. Results showed that high-functioning autism was associated with lower cognitive and affective empathy irrespective of social distance as well as with decreased emotional reactivity compared to controls. Moreover, emotional reactivity mediated the impact of ASD on both empathic components. In summary, altered emotional reactivity may underlie impaired empathy in autistic individuals.
Subject(s)
Cognition , Emotions , Empathy , Humans , Empathy/physiology , Male , Female , Emotions/physiology , Adult , Cognition/physiology , Autism Spectrum Disorder/psychology , Autism Spectrum Disorder/physiopathology , Young Adult , Autistic Disorder/psychology , Autistic Disorder/physiopathology , Adolescent , Affect/physiologyABSTRACT
Introduction: The current paper aimed to assess the feasibility of a modified intervention protocol named "Occupational Therapy using Zones of Regulation Concepts in an Equine Environment" (OT-ZOR Equine). Methods: A single arm A-B feasibility study was conducted, involving 14 autistic youth ages 6-13 years who first received 10-weeks of occupational therapy without horses (OT-ZOR Clinic) followed by 10-weeks of OT-ZOR Equine. Results: All participants completed the study and attended 95% of OT-ZOR Equine sessions. Occupational therapists maintained 91% fidelity to the OT-ZOR Equine intervention protocol and there were no serious adverse events. All participants' caregivers and study occupational therapists rated being satisfied or very satisfied with the OT-ZOR Equine intervention. Youth demonstrated improved self-regulation following participation in the OT-ZOR Clinic and OT-ZOR Equine interventions. However, participants' social functioning only improved after OT-ZOR Equine. Discussion: This study demonstrated that OT-ZOR Equine is feasible to implement, acceptable to recipients and providers, and may offer additive benefits in social functioning compared to occupational therapy intervention without horses. The current study provides a foundation for future efficacy research aimed at quantifying additive benefits of integrating horses into occupational therapy for autistic youth.
ABSTRACT
LINE-1 and Alu retrotransposons are components of the human genome and have been implicated in many human diseases. These elements can influence human transcriptome plasticity in various mechanisms. Chimeric transcripts derived from LINE-1 and Alu can also impact the human transcriptome, such as exonization and post-transcriptional modification. However, its specific role in ASD neuropathology remains unclear, particularly in the cerebellum tissues. We performed RNA-sequencing of post-mortem cerebellum tissues from ASD and unaffected individuals for transposable elements profiling and chimeric transcript identification. The majority of free transcripts of transposable elements were not changed in the cerebellum tissues of ASD compared with unaffected individuals. Nevertheless, we observed that chimeric transcripts derived from LINE-1 and Alu were embedded in the transcripts of differentially expressed genes in the cerebellum of ASD, and these genes were related to developments and abnormalities of the cerebellum. In addition, the expression levels of these genes were correlated with the significantly decreased thickness of the molecular layer in the cerebellum of ASD. We also found that global methylation and expression of LINE-1 and Alu elements were not changed in ASD, but observed in the ASD sub-phenotypes. Our findings showed associations between transposable elements and cerebellar abnormalities in ASD, particularly in distinct phenotypic subgroups. Further investigations using appropriate models are warranted to elucidate the structural and functional implications of LINE-1 and Alu elements in ASD neuropathology.
Subject(s)
Alu Elements , Autism Spectrum Disorder , Cerebellum , Long Interspersed Nucleotide Elements , Humans , Cerebellum/metabolism , Cerebellum/pathology , Long Interspersed Nucleotide Elements/genetics , Alu Elements/genetics , Autism Spectrum Disorder/genetics , Male , Female , Retroelements/genetics , DNA Methylation , Transcriptome , AdultABSTRACT
OBJECTIVE: We aim to investigate the relationship between the core symptoms of autism, anxiety levels, and attention deficit hyperactivity disorder (ADHD) traits, and a non-autism-specific, neurophysiological metric, the Delta-Beta phase-amplitude coupling (PAC), extracted from the resting-state EEG for autistic and non-autistic populations across three different age groups (children, adolescents, and adults). METHODS: We analyze the eyes-open resting-state EEG of 371 individuals. We applied a phase de-biasing PAC algorithm expected to result in a more accurate PAC estimate than other PAC methodologies available in the literature. RESULTS: In the adult group, we found a significant increase of the delta-beta PAC in the autistic subgroup who met the Autism Diagnostic Observation Schedule-2 (ADOS-2) Autism Diagnostic Interview-Revised (ADR-R) ADOS-2/ADI-R threshold compared to non-autistic individuals. The differences seem age-specific since we found no statistically significant differences in the children and adolescent populations. Moreover, we found a significant positive correlation with the restricted and repetitive behaviours score of the ADOS-2 diagnostic instrument and with ADHD hyperactivity/impulsivity in the entire autistic cohort. CONCLUSIONS: The neurophysiological differences we found only in the autistic individuals that meet the thresholds also point out the need for future studies that look for autistic neurodiverse subgroups beyond age. SIGNIFICANCE: The delta-beta debiasing PAC (dPAC) may potentially serve as a severity biomarker in the autistic population.