1. Alessio N, Brigida AL, Peluso G, Antonucci N, Galderisi U, Siniscalco D. {{Stem Cell-Derived Exosomes in Autism Spectrum Disorder}}. {Int J Environ Res Public Health};2020 (Feb 4);17(3)
Neurodevelopmental lifelong pathologies defined by problems with social interaction, communication capacity and presence of repetitive/stereotyped clusters of behavior and interests are grouped under the definition of autism spectrum disorder (ASD). ASD prevalence is still increasing, indicating the need to identify specific biomarkers and novel pharmacotherapies. Neuroinflammation and neuro-immune cross-talk dysregulation are specific hallmarks of ASD, offering the possibility of treating these disorders by stem cell therapy. Indeed, cellular strategies have been postulated, proposed and applied to ASD. However, less is known about the molecular action mechanisms of stem cells. As a possibility, the positive and restorative effects mediated by stem cells could be due to their paracrine activity, by which stem cells produce and release several ameliorative and anti-inflammatory molecules. Among the secreted complex tools, exosomes are sub-organelles, enriched by RNA and proteins, that provide cell-to-cell communication. Exosomes could be the mediators of many stem cell-associated therapeutic activities. This review article describes the potential role of exosomes in alleviating ASD symptoms.
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2. Anderson AH, Stephenson J, Carter M. {{Perspectives of Former Students with ASD from Australia and New Zealand on Their University Experience}}. {J Autism Dev Disord};2020 (Feb 8)
The university experience of students with ASD was explored through a qualitative study of 11 former university students and six significant others from Australia and New Zealand. A range of key issues were identified including difficulties encountered when studying, reasons for completion and non-completion, supports used, and coping strategies used by the participants. Many switched to part-time to manage their poor mental health and/or executive function and most had slow rates of progress. Also, some felt they had made poor discipline choices. The participants offered suggestions for future students and for making universities more autism friendly, and the possible need for transition and more structured study supports was identified.
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3. Chakrabarty M, Wada M. {{Perceptual effects of fast and automatic visual ensemble statistics from faces in individuals with typical development and autism spectrum conditions}}. {Sci Rep};2020 (Feb 7);10(1):2169.
We investigated whether covert ensembles of high- (emotion), and low-level (brightness) visual information, extracted from peripheral faces (presentation/encoding:200 ms), unintentionally influences perception of a central target face stimulus in individuals typically developing (TD) and with autism spectrum condition (ASC). Graded alterations in the summary intensities of the emotion and brightness of the peripheral stimuli modulated the perceptions of the target face in both TD and ASC. In contrast, when we measured goal-directed (overt) ensemble face- emotion and brightness perception, we found that in half of ASC the overt ensemble emotion perception was impaired than TD. Additionally, we repeated both experiments with a backward visual mask to restrict not just encoding but also background processing in the visual system to 200 ms. This revealed that the effect of peripheral ensembles on centre perception was present only with brightness at least in TD but of overt ensembles was evident with both emotion and brightness in TD and ASC alike. These results suggest that while ensemble statistics of low-level information derived automatically and rapidly (200 ms) from contextualized faces are used for target face perception, the same takes longer with high-level information. However, overt facial ensembles are rapidly processed in both TD and ASC.
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4. Constable PA, Ritvo ER, Ritvo AR, Lee IO, McNair ML, Stahl D, Sowden J, Quinn S, Skuse DH, Thompson DA, McPartland JC. {{Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Feb 7)
Light-adapted (LA) electroretinograms (ERGs) from 90 individuals with autism spectrum disorder (ASD), mean age (13.0 +/- 4.2), were compared to 87 control subjects, mean age (13.8 +/- 4.8). LA-ERGs were produced by a random series of nine different Troland based, full-field flash strengths and the ISCEV standard flash at 2/s on a 30 cd m(-2) white background. A random effects mixed model analysis showed the ASD group had smaller b- and a-wave amplitudes at high flash strengths (p < .001) and slower b-wave peak times (p < .001). Photopic hill models showed the peaks of the component Gaussian (p = .035) and logistic functions (p = .014) differed significantly between groups. Retinal neurophysiology assessed by LA-ERG provides insight into neural development in ASD. Lien vers le texte intégral (Open Access ou abonnement)
5. Doi H, Kanai C, Tsumura N, Shinohara K, Kato N. {{Lack of implicit visual perspective taking in adult males with autism spectrum disorders}}. {Res Dev Disabil};2020 (Feb 5);99:103593.
BACKGROUND: Some theorists have suggested that the ability of visual perspective-taking (VPT) constitutes a rudimentary process of social cognition, and as such, the ability of VPT in people with autism spectrum disorder (ASD) has been the focus of intensive research. AIM: The present study investigated whether adult males with ASD show signs of implicit VPT in first-level VPT tasks, in which participants were required to judge whether a target object can be seen from another’s perspective, even when they are not explicitly required to take another’s perspective. METHODS AND PROCEDURES: We examined whether the information from another’s visual perspective interferes with visual processing from the participant’s own perspective (« altercentric interference ») using the reaction time as the main performance indicator in adult males with or without ASD. Eye movement patterns during VPT were analyzed for some participants. OUTCOMES AND RESULTS: The results revealed signs of altercentric interference in neurotypical adults, but not in adult males with ASD. CONCLUSIONS AND IMPLICATIONS: The results indicate the possibility that people with ASD may rely on a different strategy than neurotypical adults in completing a first-level VPT task.
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6. Fan C, Gao Y, Liang G, Huang L, Wang J, Yang X, Shi Y, Drager UC, Zhong M, Gao TM, Yang X. {{Transcriptomics of Gabra4 knockout mice reveals common NMDAR pathways underlying autism, memory, and epilepsy}}. {Mol Autism};2020 (Feb 7);11(1):13.
Autism spectrum disorder (ASD) is a neuronal developmental disorder with impaired social interaction and communication, often with abnormal intelligence and comorbidity with epilepsy. Disturbances in synaptic transmission, including the GABAergic, glutamatergic, and serotonergic systems, are known to be involved in the pathogenesis of this disorder, yet we do not know if there is a common molecular mechanism. As mutations in the GABAergic receptor subunit gene GABRA4 are reported in patients with ASD, we eliminated the Gabra4 gene in mice and found that the Gabra4 knockout mice showed autistic-like behavior, enhanced spatial memory, and attenuated susceptibility to pentylenetetrazol-induced seizures, a constellation of symptoms resembling human high-functioning autism. To search for potential molecular pathways involved in these phenotypes, we performed a hippocampal transcriptome profiling, constructed a hippocampal interactome network, and revealed an upregulation of the NMDAR system at the center of the converged pathways underlying high-functioning autism-like and anti-epilepsy phenotypes.
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7. Folta SC, Curtin C, Must A, Pehrson A, Ryan K, Bandini L. {{Impact of Selective Eating on Social Domains Among Transition-Age Youth with Autism Spectrum Disorder: A Qualitative Study}}. {J Autism Dev Disord};2020 (Feb 7)
Food selectivity is a common feeding problem among autistic children. The objective of this qualitative study was to explore the impact of selective eating on key social domains-with family, peers, and in other social situations-of transition-age autistic youth who self-identified as being food selective. Interviews were conducted with 20 autistic youth ages 18-23 years. Data were analyzed using descriptive and thematic coding. Participants had developed a range of strategies to cope with their food selectivity, and although some expressed concerns, they did not feel that it had a major impact on social situations. A responsive approach to supporting such youth would likely involve recognizing the effort and skills that the youth have already developed around this issue.
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8. Hunsche MC, Saqui S, Mirenda P, Zaidman-Zait A, Bennett T, Duku E, Elsabbagh M, Georgiades S, Smith IM, Szatmari P, Ungar WJ, Vaillancourt T, Waddell C, Zwaigenbaum L, Kerns CM. {{Parent-Reported Rates and Clinical Correlates of Suicidality in Children with Autism Spectrum Disorder: A Longitudinal Study}}. {J Autism Dev Disord};2020 (Feb 7)
This study investigated rates of suicidal ideation (SI) and suicidal and/or self-injurious behaviour (SSIB) reported by parents on the Child Behavior Checklist for 178 children with ASD over four annual assessments (ages 7-11 years). Analyses examined the frequency and persistence of SI and SSIB, and the association of SI and SSIB at any time point with child characteristics and internalizing and externalizing problems at age 7. SI occurred in 9.6% of children and was associated with fewer ASD symptoms and better adaptive functioning at age 7. SSIB occurred in 14.6% and was associated with poorer adaptive functioning and more externalizing behaviour at age 7. Internalizing problems were not associated with SI or SSIB at any time point. SI and SSIB rarely co-occurred (4%).
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9. Kong Y, Zhou W, Sun Z. {{Nuclear receptor corepressors in intellectual disability and autism}}. {Mol Psychiatry};2020 (Feb 7)
Autism spectrum disorder (ASD) is characterized by neurocognitive dysfunctions, such as impaired social interaction and language learning. Gene-environment interactions have a pivotal role in ASD pathogenesis. Nuclear receptor corepressors (NCORs) are transcription co-regulators physically associated with histone deacetylases (HDACs) and many known players in ASD etiology such as transducin beta-like 1 X-linked receptor 1 and methyl-CpG binding protein 2. The epigenome-modifying NCOR complex is sensitive to many ASD risk factors, including HDAC inhibitor valproic acid and a variety of endocrine factors, xenobiotic chemicals, or metabolites that can directly bind to multiple nuclear receptors. Here, we review recent studies of NCORs in neurocognition using animal models and human genetics approaches. We discuss functional interplays between NCORs and other known players in ASD etiology. It is conceivable that the NCOR complex may bridge the in utero environmental risk factors of ASD with epigenetic remodeling and can serve as a converging point for many gene-environment interactions in the pathogenesis of ASD and intellectual disability.
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10. Lei J, Brosnan M, Ashwin C, Russell A. {{Evaluating the Role of Autistic Traits, Social Anxiety, and Social Network Changes During Transition to First Year of University in Typically Developing Students and Students on the Autism Spectrum}}. {J Autism Dev Disord};2020 (Feb 7)
This is the first longitudinal study to quantitatively evaluate changes in social network structure (SNS) and perceived social support (PSS) amongst first-year students on the autism spectrum (n = 21) and typically developing (TD; n = 182) students transitioning to university. The relative impact of changes in SNS/PSS, students’ social anxiety and autistic traits, on first-year university transition outcomes were also examined. Both groups gained friends over time who provided better support quantity and quality during first year of university. Social anxiety showed long-term differential negative impact on students on the autism spectrum and TD students’ academic, social and personal/emotional adjustments, and institutional attachment, suggesting stakeholders should focus on delivering interventions to reduce social anxiety to improve university transition outcomes.
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11. Lu L, Chen T, Chen Y, Yuan M, Gerstein M, Li T, Liang H, Froehlich T. {{Towards developing a practical artificial intelligence tool for diagnosing and evaluating autism spectrum disorder: A study using multicenter ABIDE II datasets}}. {JMIR Med Inform};2020 (Feb 9)
BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with unknown etiology. Early diagnosis and intervention are the keys to improving outcomes for patients with ASD. Structural MRI (sMRI) has been widely used in clinic to facilitate the diagnosis of brain diseases such as brain tumors. However, sMRI is less frequently investigated in neurological and psychiatric disorders such as ASD due to subtle, if any, anatomical changes of the brain. In recent years, more and more evidence has suggested that ASD is associated with anatomical changes of the brain. OBJECTIVE: The aim of this study was to investigate the possibility of identifying structural patterns in the ASD patients’ brain as potential biomarkers in the diagnosis and evaluation of ASD in clinic. METHODS: We developed a novel two-level histogram-based morphometry (HBM) classification framework in which an algorithm based on a 3D version of histogram of oriented gradients (HOG) was used to extract features from sMRI data. We applied this framework to distinguish ASD patients from healthy controls using four datasets from the second edition of the Autism Brain Imaging Data Exchange (ABIDE II) including sites ETH Zurich (ETH), NYU Langone Medical Center: Sample 1 (NYU), Oregon Health and Science University (OHSU), and Stanford University (SU). We used stratified 10-fold cross-validation method to evaluate the model performance, and optimized the parameters for 3D HOG and selected the best algorithms for each level of the HBM framework. We applied the Naive Bayes approach to identify the predictive ASD-related brain regions based on classification contributions of each HOG feature. RESULTS: Based on the 3D HOG feature extraction method, our proposed HBM framework achieved >0.75 AUC on each dataset, with the best AUC of 0.849 on the ETH site. We compared the 3D HOG algorithm with the original 2D HOG algorithm and improved >4% AUC on each dataset, with the best improvement of 10% on the SU site. Comparison of the 3D HOG algorithm with the scale-invariant feature transform (SIFT) algorithm showed >14% AUC improvement on each dataset. Furthermore, we identified ASD-related brain regions based on the sMRI images. Some of these regions (e.g., frontal gyrus, temporal gyrus, ingulate gyrus, postcentral gyrus, precuneus, caudate and hippocampus) are known to be implicated in ASD in prior neuroimaging literatures. We also identified less well-known regions that may play unrecognized roles in ASD and be worth further investigation. CONCLUSIONS: Our research suggested it was possible to identify neuroimaging biomarkers that can distinguish ASD patients from healthy controls based on sMRI brain images. As a cost-effective and non-invasive tool for investigating brain structural changes, sMRI is also more amenable to populations for whom compliance is a challenge as it can be completed under sedation. Therefore, our tool could be useful in the diagnosis and evaluation of ASD in clinic. We also demonstrated the potentials of applying data-driven artificial intelligence technology in the clinical settings of neurological and psychiatric disorders that usually harbor in the brain subtle anatomical changes often invisible to human eyes.
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12. Maine A, Brown MJ, Ski CF, Thompson DR, Marsh L, O’Leary L. {{Recruitment settings, delivery contexts, intervention techniques and outcomes of health promotion programmes for young adults with intellectual and developmental disabilities: A systematic review}}. {Res Dev Disabil};2020 (Feb 5);99:103592.
BACKGROUND: People with intellectual and developmental disabilities (IDD) are at risk of developing long term health conditions, and a preventative health agenda research is emerging. However, little is known about the recruitment settings, delivery contexts, intervention techniques and outcomes of health promotion programmes for this population. Therefore, the aim of this review was to synthesize and evaluate these characteristics. METHOD: A systematic review of studies identified from multiple databases on healthy lifestyle interventions for adolescents and young people with IDD was conducted. Data were synthesized and evaluated using a logic model. Quality of rigour was also assessed. RESULTS: Sixteen geographically diverse studies were selected and evaluated. Participants were most commonly recruited from schools, with interventions typically taking place in a gym setting and involving physical activity training. CONCLUSIONS: This review indicates that physical activity and dietary interventions in people with IDD may lead to lifestyle changes, however more robust evidence is required. Educational settings are conducive, with settings beyond schools requiring further consideration.
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13. Orefice LL. {{Peripheral Somatosensory Neuron Dysfunction: Emerging Roles in Autism Spectrum Disorders}}. {Neuroscience};2020 (Feb 6)
Alterations in somatosensory (touch and pain) behaviors are highly prevalent among people with autism spectrum disorders (ASDs). However, the neural mechanisms underlying abnormal touch and pain-related behaviors in ASDs and how altered somatosensory reactivity might contribute to ASD pathogenesis has not been well studied. Here, we provide a brief review of somatosensory alterations observed in people with ASDs and recent evidence from animal models that implicates peripheral neurons as a locus of dysfunction for somatosensory abnormalities in ASDs. Lastly, we describe current efforts to understand how altered peripheral sensory neuron dysfunction may impact brain development and complex behaviors in ASD models, and whether targeting peripheral somatosensory neurons to improve their function might also improve related ASD phenotypes.
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14. Page J, Lustenberger C, Frhlich F. {{Nonrapid eye movement sleep and risk for autism spectrum disorder in early development: A topographical electroencephalogram pilot study}}. {Brain Behav};2020 (Feb 9):e01557.
OBJECTIVE: Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that emerges in the beginning years of life (12-48 months). Yet, an early diagnosis of ASD is challenging as it relies on the consistent presence of behavioral symptomatology, and thus, many children are diagnosed later in development, which prevents early interventions that could benefit cognitive and social outcomes. As a result, there is growing interest in detecting early brain markers of ASD, such as in the electroencephalogram (EEG) to elucidate divergence in early development. Here, we examine the EEG of nonrapid eye movement (NREM) sleep in the transition from infancy to toddlerhood, a period of rapid development and pronounced changes in early brain function. NREM features exhibit clear developmental trajectories, are related to social and cognitive development, and may be altered in neurodevelopmental disorders. Yet, spectral features of NREM sleep are poorly understood in infants/toddlers with or at high risk for ASD. METHODS: The present pilot study is the first to examine NREM sleep in 13- to 30-month-olds with ASD in comparison with age-matched healthy controls (TD). EEG was recorded during a daytime nap with high-density array EEG. RESULTS: We found topographically distinct decreased fast theta oscillations (5-7.25 Hz), decreased fast sigma (15-16 Hz), and increased beta oscillations (20-25 Hz) in ASD compared to TD. CONCLUSION: These findings suggest a possible functional role of NREM sleep during this important developmental period and provide support for NREM sleep to be a potential early marker for ASD.
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15. Pham TH, Vicnesh J, Wei JKE, Oh SL, Arunkumar N, Abdulhay EW, Ciaccio EJ, Acharya UR. {{Autism Spectrum Disorder Diagnostic System Using HOS Bispectrum with EEG Signals}}. {Int J Environ Res Public Health};2020 (Feb 4);17(3)
Autistic individuals often have difficulties expressing or controlling emotions and have poor eye contact, among other symptoms. The prevalence of autism is increasing globally, posing a need to address this concern. Current diagnostic systems have particular limitations; hence, some individuals go undiagnosed or the diagnosis is delayed. In this study, an effective autism diagnostic system using electroencephalogram (EEG) signals, which are generated from electrical activity in the brain, was developed and characterized. The pre-processed signals were converted to two-dimensional images using the higher-order spectra (HOS) bispectrum. Nonlinear features were extracted thereafter, and then reduced using locality sensitivity discriminant analysis (LSDA). Significant features were selected from the condensed feature set using Student’s t-test, and were then input to different classifiers. The probabilistic neural network (PNN) classifier achieved the highest accuracy of 98.70% with just five features. Ten-fold cross-validation was employed to evaluate the performance of the classifier. It was shown that the developed system can be useful as a decision support tool to assist healthcare professionals in diagnosing autism.
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16. Yan D, Zhao Y, Wang Z, Yin T, Yang S, Tang X, Wang L. {{[Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2020 (Feb 10);37(2):190-194.
OBJECTIVE: To explore the genetic basis for a child with autism spectrum disorder (ASD) and congenital heart disease. METHODS: G-banded chromosomal karyotyping was carried out for the patient and his parents. The child was also subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). The result was validated by chromosomal microarray analysis (CMA). RESULTS: The karyotype of the patient and his parents were normal. No significant genetic variation was found by WES. However, CNV-seq has discovered a 47, XY, +21 [10%]/46,XY [90%] mosaicism in the patient. The result was confirmed by CMA. CONCLUSION: In addition to Down syndrome, low proportion mosaic trisomy 21 is also associated with ASD. WES and CNV-seq can enable accurate diagnosis for patient with unexplained ASD.
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17. Zhu Z, Tang S, Deng X, Wang Y. {{Maternal Systemic Lupus Erythematosus, Rheumatoid Arthritis, and Risk for Autism Spectrum Disorders in Offspring: A Meta-analysis}}. {J Autism Dev Disord};2020 (Feb 7)
This study assessed the relationships between maternal systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA) and risk for autism spectrum disorders (ASDs) in offspring. Seven observational studies, including 25,005 ASD cases and 4,543,321 participants, were included for meta-analysis. Pooled results by using random-effects models suggested that maternal RA was associated with an increased risk for ASDs [odds ratio (OR) 1.39, 95% confidence interval (CI) 1.16-1.67], while maternal SLE was associated with an increased risk for ASDs only in western population (OR 1.91, 95% CI 1.02-3.57). Further study is warranted to confirm these results.
