Neurotypical Counterparts Research Articles

Potential of Salivary Biomarkers in Autism Research: A Systematic Review.

The diagnostic process for autism spectrum disorders (ASD) is based on a behavioral analysis of the suspected individual. Despite intensive research, no specific and valid biomarker has been identified for ASD, but saliva, with its advantages such as non-invasive collection, could serve as a suitable alternative to other body fluids. As a source of nucleic acid of both human and microbial origin, protein and non-protein molecules, saliva offers a complex view on the current state of the organism. Additionally, the use of salivary markers seems to be less complicated not only for ASD screening but also for revealing the etiopathogenesis of ASD, since enrolling neurotypical counterparts willing to participate in studies may be more feasible. The aim of the presented review is to provide an overview of the current research performed on saliva in relation to ASD, mutual complementing, and discrepancies that result in difficulties applying the observed markers in clinical practice. We emphasize the methodological limitations of saliva collection and processing as well as the lack of information regarding ASD diagnosis, which is critically discussed.

6.27 Under Pressure: Expressed Emotion and Stress in Youth With Autism Spectrum Disorder

While underlying mechanisms linking expressed emotion (EE) to patient outcomes remain under investigation, it has been suggested that high EE constitutes a significant family-level stressor, leading to an increased likelihood of relapse and poor outcomes in vulnerable individuals, particularly those with autism spectrum disorder (ASD), who often have difficulty regulating their stress responses. High EE appears to be present in a significant proportion of families with an individual with neurodevelopmental disabilities (NDDs). The goal of the current study is to investigate our hypotheses: 1) EE is correlated with self-reported stress in both neurotypical (NT) youth and youth with ASD; 2) the correlation between EE and stress will be stronger in individuals with ASD compared to their neurotypical counterparts. The current analysis includes 30 adolescents aged 13 to 17 years (N = 16 ASD, 12.5% female; N = 14 NT, 21% female). The NIH Patient-Reported Outcomes Measurement Information System (PROMIS) Psychological Stress Experiences Form was administered to measure stress as experienced by the adolescents. EE was determined using the Five-Minute Speech Sample (FMSS) administered to the primary caregiver. In adolescents with ASD, those with high EE had significantly higher self-reported stress than those with low EE (p < 0.01). While a similar direction of effect was found between high EE and self-reported stress in the overall sample, this result did not reach statistical significance (p = 0.09). The correlation between EE and self-reported stress was not significantly different in adolescents with ASD compared to neurotypical subjects (p = 0.22). The significant association found between EE and self-reported stress in adolescents with ASD lays a foundation for future clinical work aimed at decreasing familial stress for youth with NDDs. While the association between high EE and self-reported stress in subjects overall did not reach statistical significance in our preliminary results, the trend mirrors existing literature demonstrating that neurotypical youth are also deleteriously affected by EE and suggests that future study with a larger sample size may uncover a significant association. Further investigation regarding the direction of these effects would provide additional insight into appropriate targets for stress reduction and clinical intervention.

Scoping review on sex education for high school-aged students with intellectual disability and/or on the autism spectrum: parents’, teachers’ and students’ perspectives, attitudes and experiences

ABSTRACT Sex education is critical for the development of healthy sexual identity and relationships. However, students with intellectual disability and/or on the autism spectrum often receive less holistic sex education in comparison to their neurotypical counterparts. A scoping review was undertaken to determine parents’, teachers’ and students’ perspectives, attitudes and experiences related to sex education for high school-aged students with intellectual disability and/or on the autism spectrum. Findings revealed that only a few studies consulted students themselves, while most sought only parents’ and teachers’ perspectives. Teachers and parents had generally positive attitudes towards sex education for students with intellectual disability and/or on the autism spectrum. However, teachers’ beliefs may prevent them from delivering sex education as intended. Furthermore, parents reported a lack of confidence in discussing sexuality with their children. Well-designed, disability-inclusive education programmes that prioritise safety, assertiveness and self-determination can support positive outcomes. Removing barriers to sex education in schools, and learning from students with intellectual disability and/or on the autism spectrum what they think could improve things for themselves and peers, is key to supporting them with their needs.

Enhanced rationality in autism spectrum disorder.

Challenges in social cognition and communication are core characteristics of autism spectrum disorder (ASD), but in some domains, individuals with ASD may display typical abilities and even outperform their neurotypical counterparts. These enhanced abilities are notable in the domains of reasoning, judgment and decision-making, in which individuals with ASD often show 'enhanced rationality' by exhibiting more rational and bias-free decision-making than do neurotypical individuals. We review evidence for enhanced rationality in ASD, how it relates to theoretical frameworks of information processing in ASD, its implications for basic research about human irrationality, and what it may mean for the ASD community.

Mucosa-associated specific bacterial species disrupt the intestinal epithelial barrier in the autism phenome

Gut-Brain Axis provides a bidirectional communicational route, an imbalance of which can have pathophysiological consequences. Differential gut microbiome studies have become a frontier in autism research, affecting 85% of autistic children. The present study aims to understand how gut microbiota of autism subjects differ from their neurotypical counterparts. This study would help to identify the abundance of bacterial signature species in autism and their associated metabolites.16S rRNA metagenomic sequence datasets of 30 out of 206 autism subjects were selected from the American Gut Project Archive. First, the taxonomic assignment was inferred by similarity-based methods using the Quantitative Insights into Microbial Ecology (QIIME) toolkit. Next, species abundance was characterized, and a co-occurrence network was built to infer species interaction using measures of diversity. Thirdly, statistical parameters were incorporated to validate the findings. Finally, the identification of metabolites associated with these bacterial signature species connects with biological processes in the host through pathway analysis.Gut microbiome data revealed Akkermansia sp. and Faecalibacterium prausnitzii to be statistically lower in abundance in autistic children than their neurotypical peers with a five and two-fold decrease, respectively. While Prevotella sp. and Sutterella sp. showed a five and a two-fold increase in cases, respectively. The constructed pathway revealed succinate and butyrate as the significant metabolites for the bacterial signature species identified.The present study throws light on the role of mucosa-associated bacterial species: Veillonella sp., Prevotella sp., Akkermansia sp., Sutterella sp., Faecalibacterium prausnitzii, Lactobacillus sp., which can act as diagnostic criteria for detection of gut dysbiosis in autism.

Attention and sensory integration for postural control in young adults with autism spectrum disorders.

Postural control impairments have been reported in adults with autism spectrum disorders (ASD). Balance relies on the integration of multisensory cues, a process that requires attention. The purpose of this study was to determine if the influence of attention demands on sensory integration abilities relevant for balance partially contributes to postural control impairments in ASD. Young adults with ASD (N = 24) and neurotypical participants (N = 24) were exposed to sensory perturbations during standing. An established dual-task paradigm was used, requiring participants to maintain balance in these sensory challenging environments and to perform auditory information processing tasks (simple reaction time task and choice reaction time task). Balance was assessed using sway magnitude and sway speed, and attention demands were evaluated based on the response time in the auditory tasks. While young adults with ASD were able to maintain balance in destabilizing sensory conditions, they were more challenged (greater sway speed) than their neurotypical counterparts. Additionally, when exposed for an extended amount of time (3min) to the most challenging sensory condition included in this study, adults with ASD exhibited a reduced ability to adapt their postural control strategies (sway speed was minimally reduced), demonstrating a postural inflexibility pattern in ASD compared to neurotypical counterparts. Finally, the impact of performing an auditory information processing task on balance and the dual-task cost on information processing (response time) was similar in both groups. ASD may disrupt temporal adaptive postural control processes associated with sensory reweighting that occurs in neurotypicals.

Advanced characterization of static postural control dysfunction in persons with multiple sclerosis and associated neural mechanisms

BackgroundMultiple sclerosis (MS) is an autoimmune-based chronic inflammatory disease characterized by the neurodegeneration of the central nervous system and produces postural dysfunction. Quiet or static standing is a complex task carried out through afferent sensory inputs and efferent postural corrective outputs. Currently the mechanisms underlying these outputs remain largely unknown. Research questionAssess the relationship between multi-dimensional measures of postural control and microstructural integrity of the cortical sensorimotor pathway (CSP) in persons with MS (PwMS) and neurotypical adults. MethodsPostural control performance was assessed by both overall and directional time-to-boundary measures across four manipulated sensory stance conditions (eyes open/closed; stance firm/foam) in twenty-nine neurotypical and twenty-seven PwMS. These postural outcomes were evaluated with mixed-model repeated measures analysis of variance across group (MS and control) and stance condition. Postural performance was also correlated with magnetic resonance imaging diffusion tensor-derived measures of microstructural integrity of the CSP. ResultsPwMS displayed significantly (p = 0.026) worse anterior-posterior postural control compared to their neurotypical counterparts across sensory testing conditions and poorer CSP microstructural integrity in comparison to neurotypical adults (p = 0.008). Additionally, PwMS displayed a significant association (2D (rho = -0.384, p = 0.048), AP (rho = -0.355, p = 0.035), and ML (rho = -0.365, p = 0.030) between integrity of the CSP and postural control performance during proprioceptive-based balance, such that those with worse cortical structure had poorer balance control. SignificanceThis is the first study to establish connections between the microstructural integrity of the CSP and multi-dimensional postural control performance. Results indicate that a reduction in the CSP microstructural integrity is associated with poorer postural control in PwMS. These outcomes identify neural underpinnings of postural control dysfunction in PwMS and provide new avenues for evaluating the efficacy of postural rehabilitation strategies in PwMS that express proprioceptive-based postural deficits.

Gaze behaviour to lateral face stimuli in infants who do and do not receive an ASD diagnosis

Cerebral lateralisation of function is a common characteristic across vertebrate species and is positively associated with fitness of the organism, in humans we hypothesise that it is associated with cognitive fitness. This investigation evaluated the early development of lateralised gaze behaviour for face stimuli in infants at high and low risk for autism from the British Autism Sibling Infant Study (BASIS). The BASIS cohort includes a low risk group and three high-risk groups who at age 3 were developing (i) typically, (ii) atypically or (iii) had received a diagnosis for ASD. Using eye-tracking data derived from a face pop-out task at 6 and 14 months of age, all non-ASD groups showed a bias for stimuli on the left at both timepoints. At 6 months the ASD group demonstrated a preference for stimuli on the right and were slower than their neurotypical counterparts to look at faces on the left. However, by 14 months these differences disappear. Longitudinal associations between lateral looking behaviour at 6 months and language and motor ability at 14 months were also found. Results suggest that infants who go on to be diagnosed with autism exhibit early differences in gaze behaviour that may be associated with subsequent cognitive outcomes.

Oral health status of children and adolescents with autism spectrum disorder: A systematic review of case-control studies and meta-analysis.

Children and adolescents diagnosed with Autism Spectrum Disorder (ASD) are thought to be more vulnerable to oral diseases than typically-developing individuals. This is due to their increased barriers to dental care services, self-harm behaviors and dietary habits that may favor tooth decay. In this review, we summarized the current evidence comparing the oral health status of children and adolescents diagnosed with and without ASD. After a systematic search in the literature, we found that the salivary pH of individuals diagnosed with ASD was significantly lower, but the results were not clinically significant that can increase their risks to tooth decay. We also found weak evidence suggesting a higher percentage of children and adolescents diagnosed with ASD having the habit of tooth grinding compared with their neurotypical counterparts. When comparing salivary flow rate, tooth decay, gum diseases, tooth malalignment and tooth trauma; no significant differences were found between the two groups. The findings did not suggest ASD as a predisposing factor to oral diseases: other factors including sugary diet and inadequate oral hygiene may play a more important role. We also call for further research to establish more concrete association between ASD and oral diseases.

Scoping Review of the Driving Behaviour of and Driver Training Programs for People on the Autism Spectrum.

Gaining a driver's licence represents increased independence and can lead to improved quality of life for individuals and their families. Learning to drive a motor vehicle and maintaining safe on-road skills are often more difficult for people on the autism spectrum. Many countries currently have no autism-specific licencing requirements for learner drivers, and there is a general lack of ASD-specific support and training packages for individuals, their families, and driving instructors. This review synthesises the peer-reviewed literature about the driving characteristics of drivers on the spectrum and driver training available for the cohort. The evidence in this review showed that individuals on the autism spectrum drive differently from their neurotypical counterparts. There are shortcomings in tactical skills of drivers on the autism spectrum, but the extent to which this affects their own safety or the safety of other road users is unclear. Tactical skills can be improved through training programs. There are few autism spectrum-specific learner training programs available. Development of an effective training program will benefit individuals on the spectrum to learn to drive, be independent, and be safe on the road.

Atypical audiovisual temporal function in autism and schizophrenia: similar phenotype, different cause.

Binding across sensory modalities yields substantial perceptual benefits, including enhanced speech intelligibility. The coincidence of sensory inputs across time is a fundamental cue for this integration process. Recent work has suggested that individuals with diagnoses of schizophrenia (SZ) and autism spectrum disorder (ASD) will characterize auditory and visual events as synchronous over larger temporal disparities than their neurotypical counterparts. Namely, these clinical populations possess an enlarged temporal binding window (TBW). Although patients with SZ and ASD share aspects of their symptomatology, phenotypic similarities may result from distinct etiologies. To examine similarities and variances in audiovisual temporal function in these two populations, individuals diagnosed with ASD (n=46; controls n=40) and SZ (n=16, controls=16) completed an audiovisual simultaneity judgment task. In addition to standard psychometric analyses, synchrony judgments were assessed using Bayesian causal inference modeling. This approach permits distinguishing between distinct causes of an enlarged TBW: an a priori bias to bind sensory information and poor fidelity in the sensory representation. Findings indicate that both ASD and SZ populations show deficits in multisensory temporal acuity. Importantly, results suggest that while the wider TBWs in ASD most prominently results from atypical priors, the wider TBWs in SZ results from a trend toward changes in prior and weaknesses in the sensory representations. Results are discussed in light of current ASD and SZ theories and highlight that different perceptual training paradigms focused on improving multisensory integration may be most effective in these two clinical populations and emphasize that similar phenotypes may emanate from distinct mechanistic causes.

Individuals with autism have higher 8-Iso-PGF2α levels than controls, but no correlation with quantitative assay of Paraoxonase 1 serum levels.

Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 α (8-iso-PGF2α, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls. A quantitative assay of Paraoxonase 1 (PON1) was conducted. Data regarding comorbidities, structural MRI scans, medication, intelligence quotient (IQ) and Childhood Autism Rating Scale scores (CARS) were also included in our study. Our results show that patients diagnosed with autism have higher levels of 8-iso-PGF2α than their neurotypical counterparts. Levels of this particular metabolite, however, do not correlate with quantitative serum levels of Paraoxonase 1, which has been shown to be altered in individuals with autism. Neither 8-iso-PGF2α nor quantitative levels of PON1 provide any meaningful correlation with clinical or neuroimaging data in this study group. Future research should focus on providing data regarding PON 1 phenotype, in addition to standard quantitative measurements, in relation to 8-iso-PGF2α as well as other clinical and structural brain findings.

Sexuality in High-Functioning Autism: A Systematic Review and Meta-analysis.

Preliminary research examining sexuality within High-Functioning Autism (HFA) has been yet to consider the impact sex may have on the sexual/romantic functioning of this population. A systematic database search was carried out to identify 27 observational and cross-sectional publications meeting predetermined inclusion criteria. Using standardised mean differences, a random-effects meta-analysis pooled data from 9 eligible studies. Exhibiting higher levels of sexual understanding, females with HFA were subject to more adverse sexual experiences than males with HFA and neurotypical counterparts. Males reported greater desire for, and engagement in both solitary and dyadic sexual contact. Findings have provided initial insight into characterising the sexuality of males and females with HFA, yet also necessitated the need for future research in the field.

Strange Words: Autistic Traits and the Processing of Non-Literal Language.

Previous investigations into metonymy comprehension in ASD have confounded metonymy with anaphora, and outcome with process. Here we show how these confounds may be avoided, using data from non-diagnosed participants classified using Autism Quotient. Participants read sentences containing target words with novel or established metonymic senses (e.g., Finland, Vietnam) in literal- or figurative-supporting contexts. Participants took longer to read target words in figurative contexts, especially where the metonymic sense was novel. Importantly, participants with higher AQs took longer still to read novel metonyms. This suggests a focus for further exploration, in terms of potential differences between individuals diagnosed with ASD and their neurotypical counterparts, and more generally in terms of the processes by which comprehension is achieved.

Motor skills in Czech children with attention-deficit/hyperactivity disorder and their neurotypical counterparts

Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed neurobehavioural disorder. Characterized by recurring problems with impulsiveness and inattention in combination with hyperactivity, motor impairments have also been well documented in the literature. The aim of this study was to compare the fine and gross motor skills of male and female children with ADHD and their neurotypical counterparts within seven skill assessments. This included three fine motor tasks: (1) spiral tracing, (2) dot filling, (3) tweezers and beads; and four gross motor tasks: (1) twistbox, (2) foot tapping, (3) small plate finger tapping, and (4) large plate finger tapping. It was hypothesized that children with ADHD would display poorer motor skills in comparison to neurotypical controls in both fine and gross motor assessments. However, statistically significant differences between the groups only emerged in four of the seven tasks (spiral tracing, dot filling, tweezers and beads and foot tapping). In line with previous findings, the complexity underlying upper limb tasks solidified the divide in performance between children with ADHD and their neurotypical counterparts. In light of similar research, impairments in lower limb motor skill were also observed. Future research is required to further delineate trends in motor difficulties in ADHD, while further investigating the underlying mechanisms of impairment.

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation

Mutations of the fragile X mental retardation 1 (FMR1) gene are the genetic cause of fragile X syndrome (FXS). Expanded CGG trinucleotide repeat (>200 repeats) result in transcriptional silencing of the FMR1 gene and deficiency/absence of the FMR1 protein (FMRP). Carriers with a premutation allele (55-200 CGG repeats) are often associated with mildly reduced levels of FMRP and/or elevated levels of FMR1 mRNA, and are associated with the risk of developing a neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). While impairments in numerical processing have been well documented in FXS, recent behavioral research suggests that premutation carriers also present with subtle but significant impairments in numerical processing. Using fMRI, the current study examined whether asymptomatic adults with the premutation would show aberrant neural correlates of magnitude estimation processing in the fronto-parietal area. Using a magnitude estimation task, we demonstrated that activity in the intraparietal sulcus and inferior frontal gyrus, associated with magnitude estimation processing, was significantly attenuated in premutation carriers compared to their neurotypical counterparts despite their comparable behavioral performance. Further, multiple regression analysis using CGG repeat size and FMR1 mRNA indicated that increased CGG repeat size is a primary factor for the decreased fronto-parietal activity, suggesting that reduced FMRP, rather than a toxic gain-of-function effect from elevated mRNA, contributes to altered neural activity of magnitude estimation processing in premutation carriers. In conclusion, we provide the first evidence on the aberrant neural correlates of magnitude estimation processing in premutation carriers accounted for by their FMR1 gene expression.

Fear-Specific Amygdala Function in Children and Adolescents on the Fragile X Spectrum: A Dosage Response of the FMR1 Gene

Mutations of the fragile X mental retardation 1 (FMR1) gene are the genetic cause of fragile X syndrome (FXS). The presence of significant socioemotional problems has been well documented in FXS although the brain basis of those deficits remains unspecified. Here, we investigated amygdala dysfunction and its relation to socioemotional deficits and FMR1 gene expression in children and adolescents on the FX spectrum (i.e., individuals whose trinucleotide CGG repeat expansion from 55 to over 200 places them somewhere within the fragile X diagnostic range from premutation to full mutation). Participants performed an fMRI task in which they viewed fearful, happy, and scrambled faces. Neuroimaging results demonstrated that FX participants revealed significantly attenuated amygdala activation in Fearful > Scrambled and Fearful > Happy contrasts compared with their neurotypical counterparts, while showing no differences in amygdala volume. Furthermore, we found significant relationships between FMR1 gene expression, anxiety/social dysfunction scores, and reduced amygdala activation in the FX group. In conclusion, we report novel evidence regarding a dosage response of the FMR1 gene on fear-specific functions of the amygdala, which is associated with socioemotional deficits in FXS.

Narrative Therapy: A Psychotherapeutic Approach in the Treatment of Adolescents With Asperger's Disorder

The conundrum of how to carry out psychotherapy with an adolescent whose primary currency of information exchange is visual as opposed to linguistic, and who is unable to develop a unified base of knowledge and hence generalize concepts, has confronted many mental health nurses in their encounters with individuals with Asperger's disorder. At the currently estimated escalating rate of occurrence of 1 to every 100 individuals having an autism spectrum disorder, and the estimate that 80% of these people have average or above intelligence, it makes sense that Asperger's disorder is frequently encountered by child and adolescent mental health nurses. Asperger's disorder represents a different way of being in the world that is associated with a higher frequency of anxiety disorders and depression than experienced by neurotypical counterparts. The inherent concretization in the externalization techniques in narrative therapy provide a novelly successful approach to psychotherapy with people with Asperger's disorder and in many cases resolution of the conundrum. This paper considers the features of Asperger's disorder and its consonance with the techniques of narrative therapy, and utilizes a case example that shows the potential efficacy of the application of this established approach in a new context. Contemporary literature on autism and narrative therapy. The implication of the potential application of narrative therapy in psychotherapy with individuals with autism is raised.

Communication skills of young autistic children: Relations between deficit areas

Challenges in social cognition and communication are core characteristics of autism spectrum disorder (ASD), but in some domains, individuals with ASD may display typical abilities and even outperform their neurotypical counterparts. These enhanced abilities are notable in the domains of reasoning, judgment and decision-making, in which individuals with ASD often show ‘enhanced rationality’ by exhibiting more rational and bias-free decision-making than do neurotypical individuals. We review evidence for enhanced rationality in ASD, how it relates to theoretical frameworks of information processing in ASD, its implications for basic research about human irrationality, and what it may mean for the ASD community.