Pubmed du 11/01/19

vendredi 11 janvier 2019

1. Cage E, Troxell-Whitman Z. Understanding the Reasons, Contexts and Costs of Camouflaging for Autistic Adults. J Autism Dev Disord. 2019.

Camouflaging entails ’masking’ in or ’passing’ social situations. Research suggests camouflaging behaviours are common in autistic people, and may negatively impact mental health. To enhance understanding of camouflaging, this study examined reasons, contexts and costs of camouflaging. 262 autistic people completed measures of camouflaging behaviours, camouflaging contexts (e.g. work vs. family), camouflaging reasons (e.g. to make friends) and mental health symptoms. Findings indicated a gender difference in reasons for camouflaging, with autistic women more likely to endorse "conventional" reasons (e.g. getting by in formal settings such as work). Both camouflaging highly across contexts and ’switching’ between camouflaging in some contexts but not in others, related to poorer mental health. These findings have implications for understanding camouflaging in autistic adults.

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2. Calorio C, Gavello D, Guarina L, Salio C, Sassoe-Pognetto M, Riganti C, Bianchi FT, Hofer NT, Tuluc P, Obermair G, Defilippi P, Balzac F, Turco E, Bett GC, Rasmusson RL, Carbone E. Impaired chromaffin cells excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers. The Journal of physiology. 2019.

KEY POINTS SUMMARY : Tymothy syndrome (TS) is a multisystem disorder featuring cardiac arrhythmias, autism and adrenal gland dysfunction that originates from a de-novo point-mutation in the gene encoding Cav1.2 (CACNA1C) L-type channel. To study the role of Cav1.2 channel signals on autism, the autistic TS2-neo mouse has been generated bearing the G406R point-mutation associated with TS type-2. Using heterozygous TS2-neo mice, we report that the G406R mutation reduces the rate of inactivation and shifts leftward the activation and inactivation of L-type channels, causing marked increase of resting Ca(2+) -influx ("window" Ca(2+) -current). The increased "window current" causes marked reduction of NaV channel-density, switches normal tonic firing in abnormal burst firing, reduces mitochondria metabolism, induces cell swelling and decreases catecholamine release. Overnight incubations with nifedipine rescue NaV channel-density, the normal firing and the quantity of catecholamine released. We provide evidence that chromaffin cells malfunction derives from altered Cav1.2 channel-gatings. L-type voltage-gated calcium channels (Cav1) have a key role in long-term synaptic plasticity, sensory transduction, muscle contraction and hormone release. A point mutation in the gene encoding Cav1.2 (CACNA1C) causes Tymothy syndrome (TS), a multisystem disorder featuring cardiac arrhythmias, autism spectrum disorder (ASD) and adrenal gland dysfunction. In the more severe type-2 form (TS2), the missense mutation G406R is on exon 8 coding for the IS6-helix of Cav1.2 channel. The mutation causes reduced inactivation and induces autism. How this occurs and how Cav1.2 gating-changes alter cell excitability, neuronal firing and hormone release on molecular basis is still widely unknown. Here, using the TS2-neo mouse model of Timothy syndrome we show that the G406R mutation alters excitability and reduces secretory activity in adrenal chromaffin cells (CCs). Specifically, the TS2-mutation reduces the rate of voltage-dependent inactivation and shifts leftward the activation and steady state inactivation of L-type channels. This markedly increases the resting "window" Ca(2+) current that causes an increased percentage of CCs undergoing abnormal action potential (AP) burst firing, cell swelling, reduced mitochondrial metabolism and decreased catecholamine release. The increased "window Ca(2+) -current" causes also decreased NaV channel-density and increased steady-state inactivation that contribute to the increased abnormal burst firing. Overnight incubation with the L-type channel blocker nifedipine rescues the normal AP firing of CCs, the density of functioning NaV channels and their steady-state inactivation. We provide evidence that CCs malfunction derives from the altered Cav1.2 channel gating and that dihydropyridines are potential therapeutics for ASD. This article is protected by copyright. All rights reserved.

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3. Conlon O, Volden J, Smith IM, Duku E, Zwaigenbaum L, Waddell C, Szatmari P, Mirenda P, Vaillancourt T, Bennett T, Georgiades S, Elsabbagh M, Ungar WJ. Gender Differences in Pragmatic Communication in School-Aged Children with Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2019.

Possible gender differences in manifestations of autism spectrum disorder (ASD) were examined using data on production of narratives. The Expression, Reception and Recall of Narrative Instrument (ERRNI ; Bishop, Expression, Reception and Recall of Narrative Instrument, Harcourt assessment, London, 2004) was administered to a sample of matched 8-year-old intellectually able boys and girls with ASD (13M, 13F), who had been selected from a large, longitudinal study. In addition, transcripts of the narratives were analyzed in detail. Significant gender differences were found in narrative production. Girls included more salient story elements than boys. On detailed language analysis, girls were also shown to tell richer stories, including more descriptors of planning or intention. Overall, our findings suggest that subtle differences in social communication may exist between intellectually able boys and girls with ASD. If reliably identifiable in young children, such gender differences may contribute to differential diagnosis of ASD. In addition, such differences may pave the way for differential approaches to intervention when the target is effective communication in sophisticated discourse contexts.

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4. Guang S, Pang N, Deng X, Yang L, He F, Wu L, Chen C, Yin F, Peng J. Synaptopathology Involved in Autism Spectrum Disorder. Frontiers in cellular neuroscience. 2018 ; 12 : 470.

Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental disorders characterized by impaired social communication, social interaction and repetitive behaviors. ASD affects 1 in 59 children, and is about 4 times more common among boys than among girls. Strong genetic components, together with environmental factors in the early stage of development, contribute to the pathogenesis of ASD. Multiple studies have revealed that mutations in genes like NRXN, NLGN, SHANK, TSC1/2, FMR1, and MECP2 converge on common cellular pathways that intersect at synapses. These genes encode cell adhesion molecules, scaffolding proteins and proteins involved in synaptic transcription, protein synthesis and degradation, affecting various aspects of synapses including synapse formation and elimination, synaptic transmission and plasticity. This suggests that the pathogenesis of ASD may, at least in part, be attributed to synaptic dysfunction. In this article, we will review major genes and signaling pathways implicated in synaptic abnormalities underlying ASD, and discuss molecular, cellular and functional studies of ASD experimental models.

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5. Idei H, Murata S, Chen Y, Yamashita Y, Tani J, Ogata T. A Neurorobotics Simulation of Autistic Behavior Induced by Unusual Sensory Precision. Computational psychiatry (Cambridge, Mass). 2018 ; 2 : 164-82.

Recently, applying computational models developed in cognitive science to psychiatric disorders has been recognized as an essential approach for understanding cognitive mechanisms underlying psychiatric symptoms. Autism spectrum disorder is a neurodevelopmental disorder that is hypothesized to affect information processes in the brain involving the estimation of sensory precision (uncertainty), but the mechanism by which observed symptoms are generated from such abnormalities has not been thoroughly investigated. Using a humanoid robot controlled by a neural network using a precision-weighted prediction error minimization mechanism, it is suggested that both increased and decreased sensory precision could induce the behavioral rigidity characterized by resistance to change that is characteristic of autistic behavior. Specifically, decreased sensory precision caused any error signals to be disregarded, leading to invariability of the robot’s intention, while increased sensory precision caused an excessive response to error signals, leading to fluctuations and subsequent fixation of intention. The results may provide a system-level explanation of mechanisms underlying different types of behavioral rigidity in autism spectrum and other psychiatric disorders. In addition, our findings suggest that symptoms caused by decreased and increased sensory precision could be distinguishable by examining the internal experience of patients and neural activity coding prediction error signals in the biological brain.

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6. Iverson JM, Shic F, Wall CA, Chawarska K, Curtin S, Estes A, Gardner JM, Hutman T, Landa RJ, Levin AR, Libertus K, Messinger DS, Nelson CA, Ozonoff S, Sacrey LR, Sheperd K, Stone WL, Tager-Flusberg HB, Wolff JJ, Yirmiya N, Young GS. Early motor abilities in infants at heightened versus low risk for ASD : A Baby Siblings Research Consortium (BSRC) study. Journal of abnormal psychology. 2019 ; 128(1) : 69-80.

Research has identified early appearing differences in gross and fine motor abilities in infants at heightened risk (HR) for autism spectrum disorder (ASD) because they are the younger siblings of children with ASD, and it suggests that such differences may be especially apparent among those HR infants themselves eventually diagnosed with ASD. The present study examined overall and item-level performance on the gross (GM) and fine motor (FM) subscales of the Mullen Scales of Early Learning (MSEL) administered at 6 months to a large, geographically diverse sample of HR infants with varying developmental outcomes (ASD, elevated ADOS without ASD, low ADOS without ASD) and to infants with low ASD risk (low risk [LR]). We also explored whether motor abilities assessed at 6 months predicted ASD symptom severity at 36 months. FM (but not GM) performance distinguished all 3 HR groups from LR infants with the weakest performance observed in the HR-Elevated ADOS children, who exhibited multiple differences from both LR and other HR infants in both gross and fine motor skills. Finally, 6-month FM (but not GM) scores significant predicted 36-month ADOS severity scores in the HR group ; but no evidence was found of specific early appearing motor signs associated with a later ASD diagnosis. Vulnerabilities in infants’ fine and gross motor skills may have significant consequences for later development not only in the motor domain but in other domains. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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7. Key AP, Jones D, Peters S. Spoken Word Processing in Rett Syndrome : Evidence from Event-Related Potentials. Int J Dev Neurosci. 2019.

This study examined the feasibility of using auditory event-related potentials to evaluate spoken word processing during passive listening in girls with Rett syndrome (n = 11) and typical peers (n = 33), age 4-12 years. The typical group demonstrated the expected pattern of more negative amplitudes within 200-500 ms in response to words than nonwords at left temporal sites. In participants with Rett syndrome, word-nonword differentiation was observed at the right temporal sites. More negative left hemisphere amplitudes in response to words were associated (at trend level) with better receptive language skills and more adaptive behavior. The results indicate that girls with Rett syndrome differentiate known words from novel nonwords, but may do so using potentially atypical neural processes. Brain-behavior correlations support validity of the proposed neural markers of word processing, making passive listening paradigms a promising approach for assessing speech and language processing in participants with limited spoken language skills.

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8. Kuschefski M, Falter-Wagner CM, Bente G, Vogeley K, Georgescu AL. Inferring power and dominance from dyadic nonverbal interactions in autism spectrum disorder. Autism Res. 2019.

Research studies to date have revealed conflicting results with respect to the processing of nonverbal cues from social interactions in autism spectrum disorder (ASD). Therefore, the aim of the present study was to investigate the contribution of two important factors for the perception of dyadic social interactions, namely (a) the movement contingency and (b) the spatial context. To this end, 26 adult participants with ASD and 26 age-, sex-, and IQ-matched typically developed control participants observed animations presenting nonverbal interactions between two human virtual characters enacting power relationships. We manipulated (a) movement contingency by exchanging one of the two original agents with an agent from another dyad and (b) spatial context by changing agents’ spatial orientation to a back-to-back position. Participants were asked to rate dominance and submissiveness of these agents. Results showed that the movement contingency manipulation affected accuracy and consistency of power perception and that the spatial context manipulation slowed down reaction times comparably in both groups. With regard to group differences, individuals with ASD were found to judge power relationships slower compared to control participants, potentially suggesting a more explicit processing style in ASD. Furthermore, the spatial context manipulation slowed down the reaction times more in the contingent compared to the non-contingent conditions only in the ASD group. These findings contribute to the ongoing debate whether individuals with ASD have difficulties in understanding nonverbal cues in a dyadic context by suggesting that they do so in more subtle ways than previously investigated. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : This study shows that the ability and speed of judging who is dominant in a social interaction depends on two factors : (a) whether their movements are matched and (b) whether they are facing each other or not. This is similarly the case for participants with and without autism. Interestingly, however, individuals with autism seem to judge generally slower, suggesting a more explicit processing style. The two factors seem to interact, suggesting that nonverbal processing difficulties are subtler than previously thought.

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9. McVey AJ. The neurobiological presentation of anxiety in autism spectrum disorder : A systematic review. Autism Res. 2019.

Anxiety is common among people with autism and is associated with unique and additive challenges. Anxiety is thought to have neurobiological components, and measures of arousal in typical development have long been studied. Recently, neurobiological measures of anxiety in autism have begun to receive empirical evaluation, but results have not yet been examined together. This systematic review, therefore, summarizes the state of the research of the neurobiology of anxiety in autism. Studies published between 1999 and June 2017 were reviewed. Results across measures of arousal point to inconsistencies in results and a lack of synthesis in the literature. Considerations regarding these inconsistencies are discussed, recommendations for future studies are offered, and clinical implications for this work are presented. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Anxiety is common among people with autism. Because anxiety has been linked with a variety of differences in physiological (bodily) and neurophysiological (brain) functioning in people without autism, research has begun to examine these processes in autism as well. This literature, however, has not yet been examined as a whole. Therefore, this paper begins to address that gap to provide the field with a better understanding of how anxiety affects people with autism and discusses implications for future research and clinical practice.

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10. Minakova E, Lang J, Medel-Matus JS, Gould GG, Reynolds A, Shin D, Mazarati A, Sankar R. Melanotan-II reverses autistic features in a maternal immune activation mouse model of autism. PLoS One. 2019 ; 14(1) : e0210389.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impaired social interactions, difficulty with communication, and repetitive behavior patterns. In humans affected by ASD, there is a male pre-disposition towards the condition with a male to female ratio of 4:1. In part due to the complex etiology of ASD including genetic and environmental interplay, there are currently no available medical therapies to improve the social deficits of ASD. Studies in rodent models and humans have shown promising therapeutic effects of oxytocin in modulating social adaptation. One pharmacological approach to stimulating oxytocinergic activity is the melanocortin receptor 4 agonist Melanotan-II (MT-II). Notably the effects of oxytocin on environmental rodent autism models has not been investigated to date. We used a maternal immune activation (MIA) mouse model of autism to assess the therapeutic potential of MT-II on autism-like features in adult male mice. The male MIA mice exhibited autism-like features including impaired social behavioral metrics, diminished vocal communication, and increased repetitive behaviors. Continuous administration of MT-II to male MIA mice over a seven-day course resulted in rescue of social behavioral metrics. Normal background C57 male mice treated with MT-II showed no significant alteration in social behavioral metrics. Additionally, there was no change in anxiety-like or repetitive behaviors following MT-II treatment of normal C57 mice, though there was significant weight loss following subacute treatment. These data demonstrate MT-II as an effective agent for improving autism-like behavioral deficits in the adult male MIA mouse model of autism.

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11. Monz BU, Houghton R, Law K, Loss G. Treatment patterns in children with autism in the United States. Autism Res. 2019.

Children with autism receive different types of non-drug treatments. We aimed to describe caregiver-reported pattern of care and its variability by geography and healthcare coverage in a US-wide sample of children aged 3-17 years. We recruited caregivers from the Simons Foundation Powering Autism Research for Knowledge (SPARK) cohort. Two online questionnaires (non-drug treatment, Autism Impact Measure) were completed in September/October 2017. Primary outcome measures were caregiver-reported types and intensities of treatments (behavioral, developmental/relationship, speech and language (SLT), occupational, psychological, "other" ; parent/caregiver training) in the previous 12 months. Main explanatory variables were geography and type of healthcare coverage. We investigated associations between the type/intensity of treatments and geography (metropolitan/nonmetropolitan) or coverage (Medicaid vs privately insured by employer) using regression analysis. Caregivers (n = 5,122) were mainly mothers (92.1%) with mean (SD) age of 39.0 (7.3) years. Mean child age was 9.1 (3.9) years ; mostly males (80.0%). Almost all children received at least one intervention (96.0%). Eighty percent received SLT or occupational therapy, while 52.0% received both. Behavioral therapy and SLT were significantly more frequent and more intense in metropolitan than in nonmetropolitan areas. No consistently significant associations were seen between healthcare coverage and frequency or intensity of interventions. At least one barrier such as "waiting list" and "no coverage" was reported by 44.8%. In conclusion, in children sampled from SPARK, we observed differences between metropolitan and nonmetropolitan areas, while we did not find significant differences between those privately insured versus Medicaid. Autism Research 2019. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY : The American Academy of Child and Adolescent Psychiatry recommends the use of multiple treatment modalities in autism spectrum disorder (ASD). We wanted to understand what types of treatment children (aged 3-17 years) with ASD receive in the United States, how and where the treatments take place and for how long. We invited caregivers from Simons Foundation Powering Autism Research for Knowledge ("SPARK ," https://sparkforautism.org/) to complete the study questions online. Participants reported on utilization of conventional, non-drug treatments for ASD, including behavioral interventions, developmental/relationship interventions, speech and language therapy (SLT), occupational therapy, psychological therapy, and parent/caregiver training. People that completed the study (n = 5,122) were primarily mothers of the child with ASD (92%) ; most of the children were boys (80%). The ASD care for the child was mostly coordinating by the mother. Almost all children received at least some type of non-drug therapies (96%), most often SLT and/or occupational therapy, mainly provided in school. Behavioral therapy was most often received in public school in rural areas, while at home in urban areas. We saw less use of behavioral therapy and SLT in rural areas, but overall comparable use between children covered by Medicaid and those covered by private insurance. Almost half the caregivers reported at least one barrier to treatment, such as "waiting list" and "no coverage." More than half said that their child benefited "much" or "very much" from the therapies received. While overall non-drug treatment rates for children with ASD were high in the United States in our study, differences existed depending on where the family lives ; not only regarding the type of therapy, but also where it takes place.

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12. Parungao JM, Reyes C, Jackson N, Roizen N, Piper M. Factors Influencing the Adequacy of Bowel Preparation in Patients With Developmental Disabilities. Gastroenterology research. 2018 ; 11(6) : 416-21.

Background : The rate of inadequate bowel preparation in the general population is approximately 23%. As more individuals with developmental disabilities enter late adulthood, a concomitant rise in endoscopic procedures for this population, including screening colonoscopies, is anticipated. However, there are sparse data on the adequacy of bowel preparation in patients with developmental disabilities. Methods : A retrospective analysis of 91 patients with developmental disabilities who underwent colonoscopy from 2006 to 2014 was performed. Bowel preparation adequacy from these procedures was evaluated, together with other data, including age, developmental disability diagnoses, procedure type, indication and setting. Results : Mean age at the time of endoscopy was 52.6 +/- 13.4 years, with an age range of 18 - 74 years. Inadequate bowel preparation was found in approximately 51% of documented cases. Outpatients were more likely to have adequate bowel preparation compared to inpatients, with an odds ratio of 2.75 (95% confidence interval : 1.14 - 6.62, P = 0.022). No other major factors identified had any statistically significant influence on the adequacy of bowel preparation. Conclusion : Over half of patients with developmental disabilities undergoing colonoscopy had inadequate bowel preparations in our study, which is more than twice the rate for the general population. Furthermore, outpatients were 2.75 times more likely to have adequate bowel preparation compared to inpatients. Further studies are recommended to improve endoscopic practices for this patient population.

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13. Qiu S, Li Y, Bai Y, Shi J, Cui H, Gu Y, Ren Y, Zhao Q, Zhang K, Lu M, Wang Y, Li Y, Zhong W, Zhu X, Liu Y, Cheng Y, Qiao Y, Liu Y. SHANK1 polymorphisms and SNP-SNP interactions among SHANK family : A possible cue for recognition to autism spectrum disorder in infant age. Autism Res. 2019.

Autism spectrum disorder (ASD) is a serious lifelong neurodevelopmental disorder. ASD is diagnosed for children at the age of two. ASD diagnosis, as early as possible, lays the foundation for treatment and much better prognosis. Notably, gene-based test is an inherent method to recognize the potential infants with ASD before the age of two. To investigate whether SHANK family contributes to ASD prediction, on the basis of our previous studies of SHANK2 and SHANK3, we further investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. We enrolled 470 subjects (229 cases and 241 healthy controls) who were northeast Chinese Han. Four tag SNPs (rs73042561, rs3745521, rs4801846, and rs12461427) of SHANK1 were selected and genotyped. We used the SNPStats online analysis program to assess the associations between the four SNPs and ASD risk. The SNP-SNP interactions among SHANK family were analyzed using multifactor dimensionality reduction method. We found that the four SHANK1 SNPs were not associated with ASD risk in northeast Chinese Han population. There existed a strong synergistic interaction between rs11236697 [SHANK2] and rs74336682 [SHANK2], and moderate synergistic interactions (rs74336682 [SHANK2]-rs73042561 [SHANK1], rs11236697 [SHANK2]-rs77716438 [SHANK2], and rs11236697 [SHANK2]-rs75357229 [SHANK2]). These SHANK1 variants may not affect the susceptibility to ASD in Chinese Han population. SNP-SNP interactions in SHANK family may confer ASD risk. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : ASD is a serious lifelong neurodevelopmental disorder with strong genetic components. We investigated associations between SHANK1 polymorphisms and ASD risk as well as SNP-SNP interactions among SHANK family. Our results indicated that there exists no association between SHANK1 SNPs and ASD, and SNP-SNP interactions in SHANK family may confer ASD risk in the Northeast Han Chinese population. Future studies are needed to test more SHANK family SNPs in a large sample to demonstrate the associations.

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14. Remmers CL, Contractor A. Development of GABAergic Inputs Is Not Altered in Early Maturation of Adult Born Dentate Granule Neurons in Fragile X Mice. eNeuro. 2018 ; 5(6).

Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the most common known cause of autism. Loss of fragile X mental retardation protein (FMRP) in mice (Fmr1 KO) leads to altered synaptic and circuit maturation in the hippocampus that is correlated with alterations in hippocampal-dependent behaviors. Previous studies have demonstrated that loss of FMRP increased the rate of proliferation of progenitor cells and altered their fate specification in adult Fmr1 KO mice. While these studies clearly demonstrate a role for FMRP in adult neurogenesis in the hippocampus, it is not known whether the functional synaptic maturation and integration of adult-born dentate granule cells (abDGCs) into hippocampal circuits is affected in Fmr1 KO mice. Here, we used retroviral labeling to birthdate abDGCs in Fmr1 KO mice which allowed us to perform targeted patch clamp recording to measure the development of synaptic inputs to these neurons at precise time points after differentiation. The frequency and amplitude of spontaneous GABAergic events increased over the first three weeks after differentiation ; however, this normal development of GABAergic synapses was not altered in Fmr1 KO mice. Furthermore, the relatively depolarized GABA reversal potential (E GABA) in immature abDGCs was unaffected by loss of FMRP as was the development of dendritic arbor of the adult generated neurons. These studies systematically characterized the functional development of abDGCs during the first four weeks after differentiation and demonstrate that the maturation of GABAergic synaptic inputs to these neurons is not grossly affected by the loss of FMRP.

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15. Shire SY, Shih W, Chang YC, Bracaglia S, Kodjoe M, Kasari C. Sustained Community Implementation of JASPER Intervention with Toddlers with Autism. J Autism Dev Disord. 2019.

Intervention research is increasingly conducted in community settings, however it is not clear how well practices are sustained locally or how children progress once external research support is removed. Two school-year cohorts of toddlers with autism (year 1 : n = 55, year 2 : n = 63) received Joint Attention, Symbolic Play, Engagement, and Regulation (JASPER) intervention from teaching assistants (TAs) with external support in year 1 and local, internal support in year 2. TAs sustained intervention strategies with more modest maintenance of high-level skills. Children in both years 1 and 2 made similar gains in initiations of joint attention during independent assessment. Year 1 children made significantly greater play gains. JASPER sustained into year 2, however advancing play may require additional supports.

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16. Vianna P, Gomes JDA, Boquett JA, Fraga LR, Schuch JB, Vianna FSL, Schuler-Faccini L. Zika Virus as a Possible Risk Factor for Autism Spectrum Disorder : Neuroimmunological Aspects. Neuroimmunomodulation. 2019 : 1-8.

The recent outbreak of the Zika virus (ZIKV) and the discovery that perinatal Zika exposure can lead to the Congenital Zika Syndrome has promoted a call for prevention measures. Due to the increased number of babies born with microcephaly, structural brain abnormalities, and neurological alterations in regions affected by ZIKV, investigations were carried out in order to better understand this process. The maternal immune system directly influences the fetal central nervous system, and complications during pregnancy have been associated with neurodevelopmental disorders. Autism spectrum disorder (ASD), a neurodevelopmental disorder commonly manifested in the first years of life, is a disease with multifactorial etiology and is manifested typically by social and communication impairments, as well as stereotyped behaviors. Brain abnormalities, including both anatomically and functionally, can be observed in this disorder, suggesting delays in neuronal maturation and altered brain connectivity. It is known that some viral congenital infections, such as rubella, and cytomegalovirus can interfere with brain development, being associated with brain calcification, microcephaly, and ASD. Here, we reviewed a range of studies evaluating the aspects concerning brain development, immunological status during pregnancy, and neuroimmunomodulation in congenital viral infections, and we discuss if the fetal brain infection caused by ZIKV could predispose to ASD. Finally, we suggest a mechanism encompassing neurological and immunological pathways that could play a role in the development of ASD in infants after ZIKV infection in pregnancy.

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17. Wisniowiecka-Kowalnik B, Nowakowska BA. Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of applied genetics. 2019.

Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social interaction and communication as well as the presence of repetitive and stereotyped behavior. It is estimated that the prevalence of ASD is 1-2% in the general population with the average male to female ratio 4-5:1. Although the causes of ASD remain largely unknown, the studies have shown that both genetic and environmental factors play an important role in the etiology of these disorders. Array comparative genomic hybridization and whole exome/genome sequencing studies identified common and rare copy number or single nucleotide variants in genes encoding proteins involved in brain development, which play an important role in neuron and synapse formation and function. The genetic etiology is recognized in 25-35% of patients with ASD. In this article, we review the current state of knowledge about the genetic etiology of ASD and also propose a diagnostic algorithm for patients.

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