1. Besaury L, Amato P, Sancelme M, Delort AM. {{Draft Genome Sequence of Pseudomonas syringae PDD-32b-74, a Model Strain for Ice-Nucleation Studies in the Atmosphere}}. {Genome Announc};2017 (Jul 27);5(30)
We report here the whole genome sequence of Pseudomonas syringae PDD-32b-74, a gammaproteobacterium isolated from cloud water. This microorganism is equipped with ice-nucleation protein and biosurfactant genes that could potentially be involved in physicochemical processes in the atmosphere and clouds.
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2. DiCriscio AS, Troiani V. {{Pupil adaptation corresponds to quantitative measures of autism traits in children}}. {Sci Rep};2017 (Jul 25);7(1):6476.
The pupil is known to reflect a range of psychological and physiological variables, including cognitive effort, arousal, attention, and even learning. Within autism spectrum disorder (ASD), some work has used pupil physiology to successfully classify patients with or without autism. As we have come to understand the heterogeneity of ASD and other neurodevelopmental disorders, the relationship between quantitative traits and physiological markers has become increasingly more important, as this may lead us closer to the underlying biological basis for atypical responses and behaviors. We implemented a novel paradigm designed to capture patterns of pupil adaptation during sustained periods of dark and light conditions in a pediatric sample that varied in intellectual ability and clinical features. We also investigate the relationship between pupil metrics derived from this novel task and quantitative behavioral traits associated with the autism phenotype. We show that pupil metrics of constriction and dilation are distinct from baseline metrics. Pupil dilation metrics correlate with individual differences measured by the Social Responsiveness Scale (SRS), a quantitative measure of autism traits. These results suggest that using a novel, yet simple, paradigm can result in meaningful pupil metrics that correlate with individual differences in autism traits, as measured by the SRS.
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3. Dieleman LM, De Pauw SSW, Soenens B, Beyers W, Prinzie P. {{Examining bidirectional relationships between parenting and child maladjustment in youth with autism spectrum disorder: A 9-year longitudinal study-CORRIGENDUM}}. {Dev Psychopathol};2017 (Jul 26):1-2.
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4. Dimitrova N, Ozcaliskan S, Adamson LB. {{Do Verbal Children with Autism Comprehend Gesture as Readily as Typically Developing Children?}}. {J Autism Dev Disord};2017 (Jul 25)
Gesture comprehension remains understudied, particularly in children with autism spectrum disorder (ASD) who have difficulties in gesture production. Using a novel gesture comprehension task, Study 1 examined how 2- to 4-year-old typically-developing (TD) children comprehend types of gestures and gesture-speech combinations, and showed better comprehension of deictic gestures and reinforcing gesture-speech combinations than iconic/conventional gestures and supplementary gesture-speech combinations at each age. Study 2 compared verbal children with ASD to TD children, comparable in receptive language ability, and showed similar patterns of comprehension in each group. Our results suggest that children comprehend deictic gestures and reinforcing gesture-speech combinations better than iconic/conventional gestures and supplementary combinations-a pattern that remains robust across different ages within TD children and children with ASD.
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5. Doll CA, Vita DJ, Broadie K. {{Fragile X Mental Retardation Protein Requirements in Activity-Dependent Critical Period Neural Circuit Refinement}}. {Curr Biol};2017 (Aug 07);27(15):2318-2330.e2313.
Activity-dependent synaptic remodeling occurs during early-use critical periods, when naive juveniles experience sensory input. Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS). In the well-mapped Drosophila olfactory circuitry, projection neurons (PNs) relay peripheral sensory information to the central brain mushroom body (MB) learning/memory center. FMRP-null PNs reduce synaptic branching and enlarge boutons, with ultrastructural and synaptic reconstitution MB connectivity defects. Critical period activity modulation via odorant stimuli, optogenetics, and transgenic tetanus toxin neurotransmission block show that elevated PN activity phenocopies FMRP-null defects, whereas PN silencing causes opposing changes. FMRP-null PNs lose activity-dependent synaptic modulation, with impairments restricted to the critical period. We conclude that FMRP is absolutely required for experience-dependent changes in synaptic connectivity during the developmental critical period of neural circuit optimization for sensory input.
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6. Ebihara K, Fujiwara H, Awale S, Dibwe DF, Araki R, Yabe T, Matsumoto K. {{Decrease in endogenous brain allopregnanolone induces autism spectrum disorder (ASD)-like behavior in mice: A novel animal model of ASD}}. {Behav Brain Res};2017 (Jul 22);334:6-15.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with core symptoms of social impairments and restrictive repetitive behaviors. Recent evidence has implicated a dysfunction in the GABAergic system in the pathophysiology of ASD. We investigated the role of endogenous allopregnanolone (ALLO), a neurosteroidal positive allosteric modulator of GABAA receptors, in the regulation of ASD-like behavior in male mice using SKF105111 (SKF), an inhibitor of type I and type II 5alpha-reductase, a rate-limiting enzyme of ALLO biosynthesis. SKF impaired sociability-related performance, as analyzed by three different tests; i.e., the 3-chamber test and social interaction in the open field and resident-intruder tests, without affecting olfactory function elucidated by the buried food test. SKF also induced repetitive grooming behavior without affecting anxiety-like behavior. SKF had no effect on short-term spatial working memory or long-term fear memory, but enhanced latent learning ability in male mice. SKF-induced ASD-like behavior in male mice was abolished by the systemic administration of ALLO (1mg/kg, i.p.) and methylphenidate (MPH: 2.5mg/kg, i.p.), a dopamine transporter inhibitor. The effects of SKF on brain ALLO contents in male mice were reversed by ALLO, but not MPH. On the other hand, SKF failed to induce ASD-like behavior or a decline in brain ALLO contents in female mice. These results suggest that ALLO regulates episodes of ASD-like behavior by positively modulating the function of GABAA receptors linked to the dopaminergic system. Moreover, a sex-dependently induced decrease in brain ALLO contents may provide an animal model to study the main features of ASD.
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7. Gillespie SM, Mitchell IJ, Abu-Akel AM. {{Autistic traits and positive psychotic experiences modulate the association of psychopathic tendencies with theory of mind in opposite directions}}. {Sci Rep};2017 (Jul 25);7(1):6485.
Various clinical disorders, including psychopathy, and autism and schizophrenia spectrum disorders, have been linked with impairments in Theory of Mind (ToM). However, although these conditions can co-occur in the same individual, the effect of their inter-play on ToM abilities has not been investigated. Here we assessed ToM abilities in 55 healthy adults while performing a naturalistic ToM task, requiring participants to watch a short film and judge the actors’ mental states. The results reveal for the first time that autistic traits and positive psychotic experiences interact with psychopathic tendencies in opposite directions to predict ToM performance-the interaction of psychopathic tendencies with autism traits was associated with a decrement in performance, whereas the interaction of psychopathic tendencies and positive psychotic experiences was associated with improved performance. These effects were specific to cognitive rather than affective ToM. These results underscore the importance of the simultaneous assessment of these dimensions within clinical settings. Future research in these clinical populations may benefit by taking into account such individual differences.
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8. Harrison AJ, Bradshaw LP, Naqvi NC, Paff ML, Campbell JM. {{Development and Psychometric Evaluation of the Autism Stigma and Knowledge Questionnaire (ASK-Q)}}. {J Autism Dev Disord};2017 (Jul 25)
ASD knowledge deficits contribute to disparities in the timing and quality of ASD services. To address the limitations with existing measures of ASD knowledge, we developed and examined the Autism Stigma and Knowledge Questionnaire (ASK-Q), which comprehensively assesses multiple subdomains of ASD knowledge while maintaining strong psychometric support and cross-cultural utility. ASK-Q items derived from the published research are organized into four subscales: (i) diagnosis, (ii) etiology, (iii) treatment, and (iv) stigma. ASK-Q items were selected based on ratings of face, construct, and cross-cultural validity by a group of 16 international researchers. Using Diagnostic Classification Modeling we confirmed the proposed factor structure and evaluated the statistical validity of each item among a lay sample of 617 participants.
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9. Hoyland AL, Ogrim G, Lydersen S, Hope S, Engstrom M, Torske T, Naerland T, Andreassen OA. {{Event-Related Potentials in a Cued Go-NoGo Task Associated with Executive Functions in Adolescents with Autism Spectrum Disorder; A Case-Control Study}}. {Front Neurosci};2017;11:393.
Executive functions are often affected in autism spectrum disorders (ASD). The underlying biology is however not well known. In the DSM-5, ASD is characterized by difficulties in two domains: Social Interaction and Repetitive and Restricted Behavior, RRB. Insistence of Sameness is part of RRB and has been reported related to executive functions. We aimed to identify differences between ASD and typically developing (TD) adolescents in Event Related Potentials (ERPs) associated with response preparation, conflict monitoring and response inhibition using a cued Go-NoGo paradigm. We also studied the effect of age and emotional content of paradigm related to these ERPs. We investigated 49 individuals with ASD and 49 TD aged 12-21 years, split into two groups below (young) and above (old) 16 years of age. ASD characteristics were quantified by the Social Communication Questionnaire (SCQ) and executive functions were assessed with the Behavior Rating Inventory of Executive Function (BRIEF), both parent-rated. Behavioral performance and ERPs were recorded during a cued visual Go-NoGo task which included neutral pictures (VCPT) and pictures of emotional faces (ECPT). The amplitudes of ERPs associated with response preparation, conflict monitoring, and response inhibition were analyzed. The ASD group showed markedly higher scores than TD in both SCQ and BRIEF. Behavioral data showed no case-control differences in either the VCPT or ECPT in the whole group. While there were no significant case-control differences in ERPs from the combined VCPT and ECPT in the whole sample, the Contingent Negative Variation (CNV) was significantly enhanced in the old ASD group (p = 0.017). When excluding ASD with comorbid ADHD we found a significantly increased N2 NoGo (p = 0.016) and N2-effect (p = 0.023) for the whole group. We found no case-control differences in the P3-components. Our findings suggest increased response preparation in adolescents with ASD older than 16 years and enhanced conflict monitoring in ASD without comorbid ADHD during a Go-NoGo task. The current findings may be related to Insistence of Sameness in ASD. The pathophysiological underpinnings of executive dysfunction should be further investigated to learn more about how this phenomenon is related to core characteristics of ASD.
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10. Inui T, Kumagaya S, Myowa-Yamakoshi M. {{Neurodevelopmental Hypothesis about the Etiology of Autism Spectrum Disorders}}. {Front Hum Neurosci};2017;11:354.
Previous models or hypotheses of autism spectral disorder (ASD) failed to take into full consideration the chronological and causal developmental trajectory, leading to the emergence of diverse phenotypes through a complex interaction between individual etiologies and environmental factors. Those phenotypes include persistent deficits in social communication and social interaction (criteria A in DSM-5), and restricted, repetitive patterns of behavior, interests, or activities (criteria B in DSM-5). In this article, we proposed a domain-general model that can explain criteria in DSM-5 based on the assumption that the same etiological mechanism would trigger the various phenotypes observed in different individuals with ASD. In the model, we assumed the following joint causes as the etiology of autism: (1) Hypoplasia of the pons in the brainstem, occurring immediately following neural tube closure; and (2) Deficiency in the GABA (gamma-aminobutyric acid) developmental switch during the perinatal period. Microstructural abnormalities of the pons directly affect both the structural and functional development of the brain areas strongly connected to it, especially amygdala. The impairment of GABA switch could not only lead to the deterioration of inhibitory processing in the neural network, but could also cause abnormal cytoarchitecture. We introduced a perspective that atypical development in both brain structure and function can give full explanation of diverse phenotypes and pathogenetic mechanism of ASD. Finally, we discussed about neural mechanisms underlying the phenotypic characteristics of ASD that are not described in DSM-5 but should be considered as important foundation: sleep, global precedence, categorical perception, intelligence, interoception and motor control.
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11. McCullagh EA, Salcedo E, Huntsman MM, Klug A. {{Tonotopic alterations in inhibitory input to the medial nucleus of the trapezoid body in a mouse model of Fragile X syndrome}}. {J Comp Neurol};2017 (Jul 26)
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine and GABA) in the auditory brainstem of Fmr1 knockout mice. We found decreases in either glycinergic or GABAergic inhibition to the medial nucleus of the trapezoid body (MNTB) specific to the tonotopic location within the nucleus. MNTB is one of the primary inhibitory nuclei in the auditory brainstem and participates in the sound localization process with fast and well-timed inhibition. Thus, a decrease in inhibitory afferents to MNTB neurons should lead to greater inhibitory output to the projections from this nucleus. In contrast, we did not see any other significant alterations in balance of excitation/inhibition in any of the other auditory brainstem nuclei measured, suggesting that the alterations observed in the MNTB are both nucleus and frequency specific. We furthermore show that glycinergic inhibition may be an important contributor to imbalances in excitation and inhibition in FXS and that the auditory brainstem is a useful circuit for testing these imbalances. This article is protected by copyright. All rights reserved.
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12. Muratori F, Tonacci A, Billeci L, Catalucci T, Igliozzi R, Calderoni S, Narzisi A. {{Olfactory Processing in Male Children with Autism: Atypical Odor Threshold and Identification}}. {J Autism Dev Disord};2017 (Jul 25)
Sensory issues are of great interest in ASD diagnosis. However, their investigation is mainly based on external observation (parent reports), with methodological limitations. Unobtrusive olfactory assessment allows studying autism neurosensoriality. Here, 20 male children with high-functioning ASD and 20 matched controls were administered a complete olfactory test battery, assessing olfactory threshold, identification and discrimination. ASD children show lower sensitivity (p = 0.041), lower identification (p = 0.014), and intact odor discrimination (p = 0.199) than controls. Comparing olfactory and clinical scores, a significant correlation was found in ASD between olfactory threshold and the CBCL social problems (p = 0.011) and aggressive behavior (p = 0.012) sub-scales. The pattern featuring peripheral hyposensitivity, high-order difficulties in odor identification and regular subcortical odor discrimination is discussed in light of hypo-priors hypothesis for autism.
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13. Murphy CM, Christakou A, Giampietro V, Brammer M, Daly EM, Ecker C, Johnston P, Spain D, Robertson DM, Murphy DG, Rubia K. {{Abnormal functional activation and maturation of ventromedial prefrontal cortex and cerebellum during temporal discounting in autism spectrum disorder}}. {Hum Brain Mapp};2017 (Jul 26)
People with autism spectrum disorder (ASD) have poor decision-making and temporal foresight. This may adversely impact on their everyday life, mental health, and productivity. However, the neural substrates underlying poor choice behavior in people with ASD, or its’ neurofunctional development from childhood to adulthood, are unknown. Despite evidence of atypical structural brain development in ASD, investigation of functional brain maturation in people with ASD is lacking. This cross-sectional developmental fMRI study investigated the neural substrates underlying performance on a temporal discounting (TD) task in 38 healthy (11-35 years old) male adolescents and adults with ASD and 40 age, sex, and IQ-matched typically developing healthy controls. Most importantly, we assessed group differences in the neurofunctional maturation of TD across childhood and adulthood. Males with ASD had significantly poorer task performance and significantly lower brain activation in typical regions that mediate TD for delayed choices, in predominantly right hemispheric regions of ventrolateral/dorsolateral prefrontal cortices, ventromedial prefrontal cortex, striatolimbic regions, and cerebellum. Importantly, differential activation in ventromedial frontal cortex and cerebellum was associated with abnormal functional brain maturation; controls, in contrast to people with ASD, showed progressively increasing activation with increasing age in these regions; which furthermore was associated with performance measures and clinical ASD measures (stereotyped/restricted interests). Findings provide first cross-sectional evidence that reduced activation of TD mediating brain regions in people with ASD during TD is associated with abnormal functional brain development in these regions between childhood and adulthood, and this is related to poor task performance and clinical measures of ASD. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc.
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14. Purpura G, Costanzo V, Chericoni N, Puopolo M, Scattoni ML, Muratori F, Apicella F. {{Bilateral Patterns of Repetitive Movements in 6- to 12-Month-Old Infants with Autism Spectrum Disorders}}. {Front Psychol};2017;8:1168.
Aim: Some patterns of repetitive movements and their frequency have been proved to distinguish infants with Autism Spectrum Disorders (ASD) from infants with Typical Development (TD) and Developmental Delay (DD) from 12 months of life on. The purpose of this study is to investigate if a specific repertoire of repetitive movements is present earlier in life, and if their higher rate and duration could differentiate infants with ASD from infants with DD and TD aged between 6 and 12 months. Method: We conducted a retrospective analysis of video-clips taken from home videos to compare the frequency and the duration of Repetitive Movement Episodes (RMEs) in a sample of 30 children equally distributed among the three groups. Results: Significantly higher total scores in bilateral RMEs with arms, hands, fingers, and lower limbs were found to distinguish ASD infants from both DD and TD infants, with a satisfactory diagnostic efficiency. No significant difference was found between the distributions of unilateral RMEs between ASD and DD/TD. Interpretation: Results indicate the presence at this age of an ASD-specific pattern of bilateral repetitive movements. We hypothesize a continuum between this pattern and the lack of variability in finalized and communicative movements and gestures observed in children with ASD during the second year of life.
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15. Ramtekkar UP. {{DSM-5 Changes in Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder: Implications for Comorbid Sleep Issues}}. {Children (Basel)};2017 (Jul 27);4(8)
Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are the most common neurodevelopmental disorders. Despite significant comorbidity, the previous diagnostic criteria prohibited the simultaneous diagnosis of both disorders. Sleep problems are highly prevalent in both disorders; however, these have been studied independently for ADHD and ASD. In the context of revised criteria in the Diagnostic Statistical Manual of Mental Disorders 5th edition (DSM-5) that allows combined diagnosis of ADHD and ASD, this short review presents an overview of relationship between sleep problems, ADHD and ASD, as well as conceptualizing the shared pathophysiology. The practical considerations for clinical management of sleep problems in combination with ADHD and ASD are also discussed.
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16. Westman Andersson G, Miniscalco C, Gillberg N. {{A 6-year follow-up of children assessed for suspected autism spectrum disorder: parents’ experiences of society’s support}}. {Neuropsychiatr Dis Treat};2017;13:1783-1796.
BACKGROUND: Early support and interventions are suggested to be important for children with autism spectrum disorder (ASD) and other developmental problems and their families. Parents are described to have a burdensome life situation where the child’s problems have a great impact on the family’s well-being. AIM: To obtain increased knowledge of parents’ experiences of support and interventions 6 years after their child was assessed for ASD. METHODS AND PROCEDURES: A semi-structured questionnaire was sent to all parents (n=101) whose preschool children (<4 years of age) had been assessed for ASD about 6 years prior in Gothenburg, Sweden. The open-ended questions were analyzed thematically using a hermeneutic phenomenological approach. OUTCOMES AND RESULTS: Parents of 56 children answered 30 questions about their experiences concerning support from society after the neuropsychiatric assessment. From the eight open-ended questions, three themes were identified: parental responsibility, resources and competence among actors in society, and inequality. The parents experienced that they had to take responsibility for meeting the needs of and securing support for their child. They found that the support given was unequal, uncoordinated, and with great variations between both geographical areas and professionals. Parents' own resources were described as impacting the possibility to secure adequate interventions, resulting in unequal treatment of families depending on socioeconomic status. Several parents also expressed experiencing a lack of individualization of services and interventions. All children had received some kind of action from society, but not to the degree they had wished for when the children got their ASD diagnosis. CONCLUSION AND IMPLICATIONS: The essence of parents' comments was the experience of authorities and societal actors trying to push the responsibility onto someone else. The study indicates a need for continuous longitudinal support for children identified with neurodevelopmental problems before the age of 3 years. This requires collaboration and coordination between different societal bodies. Lien vers le texte intégral (Open Access ou abonnement)
17. Zhang W, Groen W, Mennes M, Greven C, Buitelaar J, Rommelse N. {{Revisiting subcortical brain volume correlates of autism in the ABIDE dataset: effects of age and sex}}. {Psychol Med};2017 (Jul 26):1-15.
BACKGROUND: Autism spectrum disorders (ASD) are characterized by substantial clinical, etiological and neurobiological heterogeneity. Despite this heterogeneity, previous imaging studies have highlighted the role of specific cortical and subcortical structures in ASD and have forwarded the notion of an ASD specific neuroanatomy in which abnormalities in brain structures are present that can be used for diagnostic classification approaches. METHOD: A large (N = 859, 6-27 years, IQ 70-130) multi-center structural magnetic resonance imaging dataset was examined to specifically test ASD diagnostic effects regarding (sub)cortical volumes. RESULTS: Despite the large sample size, we found virtually no main effects of ASD diagnosis. Yet, several significant two- and three-way interaction effects of diagnosis by age by gender were found. CONCLUSION: The neuroanatomy of ASD does not exist, but is highly age and gender dependent. Implications for approaches of stratification of ASD into more homogeneous subtypes are discussed.
