1. {{Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy}}. {Am J Med Genet A}. 2018; 176(3): 510-2.
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2. {{Autism spectrum disorder in primary care}}. {The Nurse practitioner}. 2018; 43(2): 28-9.
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3. Bussu G, Jones EJH, Charman T, Johnson MH, Buitelaar JK. {{Prediction of Autism at 3 Years from Behavioural and Developmental Measures in High-Risk Infants: A Longitudinal Cross-Domain Classifier Analysis}}. {J Autism Dev Disord}. 2018.
We integrated multiple behavioural and developmental measures from multiple time-points using machine learning to improve early prediction of individual Autism Spectrum Disorder (ASD) outcome. We examined Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and early ASD symptoms between 8 and 36 months in high-risk siblings (HR; n = 161) and low-risk controls (LR; n = 71). Longitudinally, LR and HR-Typical showed higher developmental level and functioning, and fewer ASD symptoms than HR-Atypical and HR-ASD. At 8 months, machine learning classified HR-ASD at chance level, and broader atypical development with 69.2% Area Under the Curve (AUC). At 14 months, ASD and broader atypical development were classified with approximately 71% AUC. Thus, prediction of ASD was only possible with moderate accuracy at 14 months.
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4. Choi J, Lee S, Won J, Jin Y, Hong Y, Hur TY, Kim JH, Lee SR, Hong Y. {{Pathophysiological and neurobehavioral characteristics of a propionic acid-mediated autism-like rat model}}. {PLoS One}. 2018; 13(2): e0192925.
Autism spectrum disorder (ASD) is induced by complex hereditary and environmental factors. However, the mechanisms of ASD development are poorly understood. The purpose of this study was to identify standard indicators of this condition by comparing clinical, pathophysiological, and neurobehavioral features in an autism-like animal model. A total of 22 male Sprague-Dawley rats were randomly divided into control and 500 mg/kg propionic acid (PPA)-treated groups. Rats were subjected to behavioral tests, gene expression analyses, and histological analyses to detect pathophysiological and neurobehavioral alterations. Exploratory activity and non-aggressive behavior were significantly reduced in PPA-treated rats, whereas enhanced aggressive behavior during adjacent interactions was observed on day 14 after PPA administration. To evaluate gene expression after PPA administration, we analyzed hippocampal tissue using reverse transcription PCR. Glial fibrillary acidic protein was augmented in the PPA-treated group on day 14 after appearance of ASD-like behaviors by PPA administration, whereas octamer-binding transcription factor 4 expression was significantly decreased in the PPA-treated group. Histological evaluation revealed significantly reduced diameter and layer thickness of granule cells in PPA-treated rats compared with control rats. We conclude that PPA administration induced abnormal neural cell organization, which may have led to autism-like neurobehaviors, including increased aggressive behavior, reduced exploratory activity, and isolative and passive behaviors.
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5. Cole EJ, Barraclough NE, Enticott PG. {{Investigating Mirror System (MS) Activity in Adults with ASD When Inferring Others’ Intentions Using Both TMS and EEG}}. {J Autism Dev Disord}. 2018.
ASD is associated with mentalizing deficits that may correspond with atypical mirror system (MS) activation. We investigated MS activity in adults with and without ASD when inferring others’ intentions using TMS-induced motor evoked potentials (MEPs) and mu suppression measured by EEG. Autistic traits were measured for all participants. Our EEG data show, high levels of autistic traits predicted reduced right mu (8-10 Hz) suppression when mentalizing. Higher left mu (8-10 Hz) suppression was associated with superior mentalizing performances. Eye-tracking and TMS data showed no differences associated with autistic traits. Our data suggest ASD is associated with reduced right MS activity when mentalizing, TMS-induced MEPs and mu suppression measure different aspects of MS functioning and the MS is directly involved in inferring intentions.
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6. Dickinson A, Gomez R, Jones M, Zemon V, Milne E. {{Lateral inhibition in the autism spectrum: An SSVEP study of visual cortical lateral interactions}}. {Neuropsychologia}. 2018; 111: 369-76.
Circuit level brain dysfunction has been suggested as a common mechanism through which diverse genetic risk factors and neurobiological sequelae lead to the core features of autism spectrum disorder (Geschwind 2009; Port et al. 2014). An important mediator of circuit level brain activity is lateral inhibition, and a number of authors have suggested that lateral inhibition may be atypical in ASD. However, evidence regarding putative atypical lateral connections in ASD is mixed. Here we employed a steady state visual evoked potential (SSVEP) paradigm to further investigate lateral connections within a group of high functioning adults with ASD. At a group level, we found no evidence of altered lateral interactions in ASD. Exploratory analyses reveal that greater ASD symptom severity (increased ADOS score) is associated with increased short range lateral inhibition. These results suggest that lateral interactions are not altered in ASD at a group-level, but that subtle alterations in such neurobiological processes may underlie the heterogeneity seen in the autism spectrum in terms of sensory perception and behavioral phenotype.
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7. Herman C, Healy O, Lydon S. {{An interview-informed synthesized contingency analysis to inform the treatment of challenging behavior in a young child with autism}}. {Dev Neurorehabil}. 2018; 21(3): 202-7.
PURPOSE: Experimental Functional analysis (EFA) is considered the « gold standard » of behavioural assessment and its use is predictive of treatment success. However, EFA has a number of limitations including its lengthy nature, the high level of expertise required, and the reinforcement of challenging behaviour. This study aimed to further validate a novel interview-informed synthesised contingency analysis (IISCA). METHODS: An open-ended interview and brief direct observation informed an IISCA for a young boy with autism who engaged in challenging behaviour. Resulting data supported the hypothesis that the target behaviour was multiply controlled by escape from demands and access to tangible items. An intervention comprised of most-to-least prompting, escape extinction, differential reinforcement and a high-probability instruction sequence was evaluated using a reversal design. RESULTS: This intervention reduced challenging behaviour to low levels and resulted in increased compliance. CONCLUSIONS: Findings support the status of the IISCA as a valid, practical, and effective process for designing function-based interventions.
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8. Hirata K, Egashira K, Harada K, Nakashima M, Hirotsu M, Isomura S, Watanuki T, Matsubara T, Kaku Y, Kaneyuki H, Watanabe Y, Matsuo K. {{Differences in frontotemporal dysfunction during social and non-social cognition tasks between patients with autism spectrum disorder and schizophrenia}}. {Sci Rep}. 2018; 8(1): 3014.
Although literature evidence suggests deficits in social and non-social cognition in patients with autistic spectrum disorder (ASD) and schizophrenia (SCZ), the difference in neural correlates of the impairments between the two disorders has not been elucidated. We examined brain function in response to a non-social cognition and a social cognition task using functional near-infrared spectroscopy (fNIRS) in 13 patients with ASD, 15 patients with SCZ, and 18 healthy subjects. We assessed the brain function of participants using a verbal fluency task and an emotional facial recognition task. The patients with ASD showed significantly reduced brain activation in the left frontotemporal area during both tasks compared to healthy subjects. The patients with ASD with larger score in ‘attention to detail’ in the autism spectrum quotient showed lower activation of the left frontotemporal area during the two tasks. The patients with SCZ showed significantly reduced activation, compared to healthy subjects, and greater activation, compared to patients with ASD, in the area during the verbal fluency task. The patients with SCZ with more severe symptoms had lower brain activation during the task in this area. Our results suggest that two distinct areas are involved in the distinctive brain pathophysiology relevant to cognitive processing in patients with ASD and SCZ.
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9. Hu X, Zheng Q, Lee GT. {{Using Peer-Mediated LEGO(R) Play Intervention to Improve Social Interactions for Chinese Children with Autism in an Inclusive Setting}}. {J Autism Dev Disord}. 2018.
The purpose of this study was to examine the effects of a peer-mediated LEGO(R) play intervention on improving social skills for children with ASD in an inclusive preschool in China. Three boys with ASD and 13 typically developing children participated in this study. A multiple-probe across participants design was used. The intervention consisted of LEGO(R) construction activities incorporated with peer-mediated strategies for one child with ASD and two typically developing peers. The intervention sessions were conducted two sessions per week with a total of 28-31 sessions for each participant. Results indicated that all three children with ASD increased their social initiations and responses following the completion of the intervention. Social validity was also obtained.
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10. Jin Z, Yang Y, Liu S, Huang H, Jin X. {{Prevalence of DSM-5 Autism Spectrum Disorder Among School-Based Children Aged 3-12 Years in Shanghai, China}}. {J Autism Dev Disord}. 2018.
We estimated the prevalence of ASD in a population-based sample comprising children aged 3-12 years (N = 74,252) in Shanghai. This included a high-risk group sampled from special education schools and a low-risk group randomly sampled from general schools. First, we asked parents and then teachers to complete the Social Communication Questionnaire for participating children. Children who screened positive based on both parental and teachers’ reports were comprehensively assessed. ASD was identified based on DSM-5 criteria. We identified 711 children as being at-risk for ASD, of which 203 were identified as ASD cases. The prevalence of ASD was 8.3 per 10,000, which is likely an underestimate, given that 81.6% of the children diagnosed with ASD had IQs below 40. This is the first report on the prevalence of ASD according to DSM-5 in China.
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11. Kyle SM, Vashi N, Justice MJ. {{Rett syndrome: a neurological disorder with metabolic components}}. {Open biology}. 2018; 8(2).
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on symptom relief. Thought to be an entirely neurological disorder, RTT research has focused on the role of MECP2 in the central nervous system. However, the variety of phenotypes identified in Mecp2 mutant mouse models and RTT patients implicate important roles for MeCP2 in peripheral systems. Here, we review the history of RTT, highlighting breakthroughs in the field that have led us to present day. We explore the current evidence supporting metabolic dysfunction as a component of RTT, presenting recent studies that have revealed perturbed lipid metabolism in the brain and peripheral tissues of mouse models and patients. Such findings may have an impact on the quality of life of RTT patients as both dietary and drug intervention can alter lipid metabolism. Ultimately, we conclude that a thorough knowledge of MeCP2’s varied functional targets in the brain and body will be required to treat this complex syndrome.
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12. Li G, Lee O, Rabitz H. {{High efficiency classification of children with autism spectrum disorder}}. {PLoS One}. 2018; 13(2): e0192867.
Autism spectrum disorder (ASD) is a wide-ranging collection of developmental diseases with varying symptoms and degrees of disability. Currently, ASD is diagnosed mainly with psychometric tools, often unable to provide an early and reliable diagnosis. Recently, biochemical methods are being explored as a means to meet the latter need. For example, an increased predisposition to ASD has been associated with abnormalities of metabolites in folate-dependent one carbon metabolism (FOCM) and transsulfuration (TS). Multiple metabolites in the FOCM/TS pathways have been measured, and statistical analysis tools employed to identify certain metabolites that are closely related to ASD. The prime difficulty in such biochemical studies comes from (i) inefficient determination of which metabolites are most important and (ii) understanding how these metabolites are collectively related to ASD. This paper presents a new method based on scores produced in Support Vector Machine (SVM) modeling combined with High Dimensional Model Representation (HDMR) sensitivity analysis. The new method effectively and efficiently identifies the key causative metabolites in FOCM/TS pathways, ranks their importance, and discovers their independent and correlative action patterns upon ASD. Such information is valuable not only for providing a foundation for a pathological interpretation but also for potentially providing an early, reliable diagnosis ideally leading to a subsequent comprehensive treatment of ASD. With only tens of SVM model runs, the new method can identify the combinations of the most important metabolites in the FOCM/TS pathways that lead to ASD. Previous efforts to find these metabolites required hundreds of thousands of model runs with the same data.
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13. Mahapatra S, Vyshedsky D, Martinez S, Kannel B, Braverman J, Edelson SM, Vyshedskiy A. {{Autism Treatment Evaluation Checklist (ATEC) Norms: A « Growth Chart » for ATEC Score Changes as a Function of Age}}. {Children (Basel, Switzerland)}. 2018; 5(2).
Most early-intervention Autism Spectrum Disorder (ASD) clinical trials are limited by the availability of psychometric technicians who assess each child’s abilities before and after therapeutic intervention. If parents could administer regular psychometric evaluations of their children, then the cost of clinical trials will be reduced, enabling longer clinical trials with the larger number of participants. The Autism Treatment Evaluation Checklist (ATEC) was designed nearly two decades ago to provide such a tool, but the norms on the longitudinal changes in ATEC in the « treatment as usual » population were lacking. Here we report the norms of the observational cohort who voluntarily completed ATEC evaluations over the period of four years from 2013 to 2017.
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14. Martinez M, Thomas KC, Williams CS, Christian R, Crais E, Pretzel R, Hooper SR. {{Family Experiences with the Diagnosis of Autism Spectrum Disorder: System Barriers and Facilitators of Efficient Diagnosis}}. {J Autism Dev Disord}. 2018.
This paper examines family experiences with the efficiency of ASD diagnosis. Children were age 8 or younger with ASD (n = 450). Outcomes were delay from first parent concern to diagnosis, shifting diagnoses, and being told child did not have ASD. Predictors were screening, travel distance, and problems finding providers. Logit models were used to examine associations. Screening was associated with reduced delay in diagnosis; problems finding providers were associated with greater delay. Screening, travel distance, and delay in diagnosis were associated with shifting diagnoses and being told child did not have ASD. Physician and parent training in communication and addressing mental health professional shortages and maldistribution may improve the diagnosis experiences of families of children with ASD.
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15. McKinney C, Gadke DL, Malkin ML. {{Autism Spectrum Disorder Traits in Typically Developing Emerging Adults and Associated Parenting: A Person-Centered Approach}}. {Journal of American college health : J of ACH}. 2018: 0.
Research on parenting children with autism spectrum disorder (ASD) indicates these children receive parenting tailored to their condition. However, little is known about ASD in adulthood, especially in emerging adults at college, and how they are parented. The current study examined how emerging adults in a non-clinical typically-developing sample differed in their current perceptions of parenting as a function of ASD traits. Participants completed questionnaires about their current perceptions of parenting and self-reported ASD traits. Parenting characteristics assessed included parenting style, discipline, parent-child relationship quality, and parental distress. Results indicated that higher levels of self-reported ASD traits were associated with increasingly ineffective parenting characteristics including lower authoritative style, harsher discipline, poorer parent-child relationship quality (e.g., lower involvement), and higher parental distress. Researchers are encouraged to extend ASD research into adulthood by validating diagnostic methods with adults and investigating processes in adulthood that have been well-established in the childhood ASD literature.
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16. Naguy A, Yahya B. {{Restricted and repetitive behaviours in autism spectrum disorder through a clinical lens!}}. {Asian J Psychiatr}. 2018; 31: 79-80.
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17. Ronconi L, Devita M, Molteni M, Gori S, Facoetti A. {{Brief Report: When Large Becomes Slow: Zooming-Out Visual Attention Is Associated to Orienting Deficits in Autism}}. {J Autism Dev Disord}. 2018.
Previous studies independently demonstrated impairments in rapid orienting/disengagement and zooming-out of spatial attention in autism spectrum disorder (ASD). These attentional mechanisms, however, are not completely independent. Aiming at a more complete picture of spatial attention deficits in ASD, we examined the relationship between orienting and zooming in participants with ASD and typically developing peers. We modified a classical spatial cuing task, presenting two small or large cues in the two visual hemifields and subsequently cueing attention to one of them. Our results demonstrate a sluggish orienting mechanism in ASD only when a large attentional focus is deployed. Moreover, only the sluggish orienting mechanism in the large cues condition predicts the severity in the social-interaction symptomatology in individuals with ASD.
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18. Sommer M, Dohnel K, Jarvers I, Blaas L, Singer M, Noth V, Schuwerk T, Rupprecht R. {{False Belief Reasoning in Adults with and without Autistic Spectrum Disorder: Similarities and Differences}}. {Front Psychol}. 2018; 9: 183.
A central diagnostic criteria for autism spectrum disorder (ASD) is the qualitative impairment in reciprocal social interaction and a prominent hypotheses that tried to explain this impairment is the Theory of Mind (ToM) deficit hypotheses. On a behavioral level the critical test for having a ToM, the understanding of false beliefs (FB), is often used for testing ToM abilities in individuals with ASD. Investigating the neural underpinnings several neuroimaging studies revealed a network of areas involved in FB reasoning in neurotypical individuals. For ASD individuals the neural correlates of false belief processing are largely unknown. Using functional magnetic resonance imaging and an adapted unexpected transfer task, that makes it possible to distinguish between the computation of diverging beliefs and the selection of a belief-associated response, we investigated a group of adult high-functioning individuals with ASD (N = 15) and an age and IQ matched group of neurotypical adults (NT; N = 15). On the behavioral level we found no group differences. On the neural level, results were two-fold: In the story phase, in which participants had to compute whether the character’s belief is congruent or incongruent to their own belief, there were no differences between neurotypical participants and those diagnosed with ASD. But, in the subsequent question phase, participants with ASD showed increased activity in the bilateral anterior prefrontal cortex, the left posterior frontal cortex, the left superior temporal gyrus, and the left temporoparietal area. These results suggest that during the story phase in which the participants processed observable actions the neural correlates do not differ between adult individuals with ASD and NT individuals. But in the question phase in which participants had to infer an unobservable mental state results revealed neural differences between the two groups. Possibly, these subtle neural processing differences may contribute to the fact that adult ASD individuals are able to master explicit false belief tasks but fail to apply their strategies during everyday social interaction.
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19. Weill VA, Zavodny S, Souders MC. {{Autism spectrum disorder in primary care}}. {The Nurse practitioner}. 2018; 43(2): 21-8.
Nurse practitioners working in the primary care setting will commonly see children with autism spectrum disorder. It is important for clinicians to be vigilant for subtle developmental signs that can lead to early identification and diagnosis. This article presents information on assessment, screening, the responsibilities of coordinating services, and ways to support families.
