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https://www.readbyqxmd.com/read/28641949/reduced-protein-expressions-of-cytomembrane-gabaar%C3%AE-3-at-different-postnatal-developmental-stages-of-rats-exposed-prenatally-to-valproic-acid
#1
Yixin Li, Yang Zhou, Li Peng, Yong Zhao
Decreased inhibition plays an extremely important role in pathogenesis of autism spectrum disorder (ASD). Therefore, we aimed to determine whether expression levels of the γ-aminobutyric acid type A receptor β3 subunit (GABAARβ3), K(+)-Cl(-) cotransporter 2 (KCC2), and Na(+)-K(+)-Cl(-) cotransporter 1 (NKCC1) related to inhibition transmission are changed in a sodium valproate-induced rat model of ASD. Decreased expression levels of membrane GABAARβ3 (m-GABAARβ3) and KCC2 as well as increased endocytosis of GABAARs were found in the model group...
June 19, 2017: Brain Research
https://www.readbyqxmd.com/read/28639981/increasing-nursing-students-knowledge-of-autism-spectrum-disorder-by-using-a-standardized-patient
#2
Constance E McIntosh, Cynthia M Thomas, Susan Wilczynski, David E McIntosh
Nursing students participated in a simulation using a standardized patient role-playing an adolescent with autism spectrum disorder (ASD). The researchers used student feedback to develop and improve a simulation aimed at increasing learner skills and knowledge for treating ASD patients. Students indicated that the standardized patient provided realism not obtained when using static manikins or high-fidelity simulators. Students strongly agreed or agreed that classroom instruction prior to the simulation was important to increasing their knowledge of ASD...
June 20, 2017: Nursing Education Perspectives
https://www.readbyqxmd.com/read/28638592/evaluating-the-quality-of-peer-interactions-in-children-and-adolescents-with-autism-with-the-penn-interactive-peer-play-scale-pipps
#3
Rebecca M Jones, Andrew Pickles, Catherine Lord
BACKGROUND: A core difficulty for individuals with autism is making friends and successfully engaging and interacting with peers. The majority of measures to assess peer interactions are observations in a school setting or self-report. The present study examined the convergent validity of using a teacher rating scale, the Penn Interactive Peer Play Scale (PIPPS), for collecting information about the quality of peer interactions at school. METHODS: Teachers completed the PIPPS for 107 children with ASD when the child was 9 and 13 years of age...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28635106/long-noncoding-rna-and-its-contribution-to-autism-spectrum-disorders
#4
REVIEW
Jie Tang, Yizhen Yu, Wei Yang
Recent studies have indicated that long noncoding RNAs (lncRNAs) play important roles in multiple processes, such as epigenetic regulation, gene expression regulation, development, nutrition-related and other diseases, toxic response, and response to drugs. Although the functional roles and mechanisms of several lncRNAs have been discovered, a better understanding of the vast majority of lncRNAs remains elusive. To understand the functional roles and mechanisms of lncRNAs is critical because these transcripts represent the majority of the transcriptional output of the mammalian genome...
June 20, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28630661/intrainsular-connectivity-and-somatosensory-responsiveness-in-young-children-with-asd
#5
Michelle D Failla, Brittany R Peters, Haleh Karbasforoushan, Jennifer H Foss-Feig, Kimberly B Schauder, Brynna H Heflin, Carissa J Cascio
BACKGROUND: The human somatosensory system comprises dissociable paths for discriminative and affective touch, reflected in separate peripheral afferent populations and distinct cortical targets. Differences in behavioral and neural responses to affective touch may have an important developmental role in early social experiences, which are relevant for autism spectrum disorder (ASD). METHODS: Using probabilistic tractography, we compared the structural integrity of white matter pathways for discriminative and affective touch in young children with ASD and their typically developing (TD) peers...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28618077/generation-of-a-microglial-developmental-index-in-mice-and-in-humans-reveals-a-sex-difference-in-maturation-and-immune-reactivity
#6
Richa Hanamsagar, Mark D Alter, Carina S Block, Haley Sullivan, Jessica L Bolton, Staci D Bilbo
Evidence suggests many neurological disorders emerge when normal neurodevelopmental trajectories are disrupted, i.e., when circuits or cells do not reach their fully mature state. Microglia play a critical role in normal neurodevelopment and are hypothesized to contribute to brain disease. We used whole transcriptome profiling with Next Generation sequencing of purified developing microglia to identify a microglial developmental gene expression program involving thousands of genes whose expression levels change monotonically (up or down) across development...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28616126/autistic-traits-affect-interpersonal-motor-coordination-by-modulating-strategic-use-of-role-based-behavior
#7
Arianna Curioni, Ilaria Minio-Paluello, Lucia Maria Sacheli, Matteo Candidi, Salvatore Maria Aglioti
BACKGROUND: Despite the fact that deficits in social communication and interaction are at the core of Autism Spectrum Conditions (ASC), no study has yet tested individuals on a continuum from neurotypical development to autism in an on-line, cooperative, joint action task. In our study, we aimed to assess whether the degree of autistic traits affects participants' ability to modulate their motor behavior while interacting in a Joint Grasping task and according to their given role. METHODS: Sixteen pairs of adult participants played a cooperative social interactive game in which they had to synchronize their reach-to-grasp movements...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28608247/tryptophan-status-in-autism-spectrum-disorder-and-the-influence-of-supplementation-on-its-level
#8
Joanna Kałużna-Czaplińska, Jagoda Jóźwik-Pruska, Salvatore Chirumbolo, Geir Bjørklund
Recent reports show that the worldwide incidence of autism spectrum disorder (ASD) is dramatically increasing, although ASD etiology and pathogenesis are still far to be fully elucidated. Some dietary-derived essential compounds, such as the amino acid tryptophan, appear to be impaired in patients with ASD. Tryptophan (Trp) plays a significant role in the human organism and serves as a precursor for a wide range of bioactive compounds, including major neurotransmitters. Research indicates that tryptophan might be deficient in subjects with ASD...
June 12, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#9
Nisha S Pulimood, Rodrigues Wandilson Dos Santos, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP Response Element Binding factor), SRF (Serum Response Factor) and MEF2 (Myocyte Enhancer Factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex. These three proteins bind to the Synaptic Activity Response Element (SARE), an enhancer sequence found upstream of many plasticity-related genes (Kawashima et al...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28607166/unique-vs-redundant-functions-of-neuroligin-genes-in-shaping-excitatory-and-inhibitory-synapse-properties
#10
Soham Chanda, William D Hale, Bo Zhang, Marius Wernig, Thomas C Südhof
Neuroligins are evolutionarily conserved postsynaptic cell-adhesion molecules that interact with presynaptic neurexins. Neurons express multiple neuroligin isoforms that are targeted to specific synapses, but their synaptic functions and mechanistic redundancy are not completely understood. Overexpression or RNAi-mediated knockdown of neuroligins respectively causes dramatic increase or decrease in synapse density, whereas genetic deletions of neuroligins impair synapse function with only minor effects on synapse numbers, raising fundamental questions about the overall physiological role of neuroligins...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28607094/pharmacology-of-the-nav1-1-domain-iv-voltage-sensor-reveals-coupling-between-inactivation-gating-processes
#11
Jeremiah D Osteen, Kevin Sampson, Vivek Iyer, David Julius, Frank Bosmans
The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. This voltage-gated sodium (Nav) channel subtype also plays an important role in mechanical pain signaling by primary afferent somatosensory neurons. Therefore, pharmacologic modulation of Nav1.1 represents a potential strategy for treating excitability disorders of the brain and periphery. Inactivation is a complex aspect of Nav channel gating and consists of fast and slow components, each of which may involve a contribution from one or more voltage-sensing domains...
June 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28606411/can-parasitic-worms-cure-the-modern-world-s-ills
#12
REVIEW
Margaret M Harnett, William Harnett
There has been increasing recognition that the alarming surge in allergy and autoimmunity in the industrialised and developing worlds shadows the rapid eradication of pathogens, such as parasitic helminths. Appreciation of this has fuelled an explosion in research investigating the therapeutic potential of these worms. This review considers the current state-of-play with a particular focus on exciting recent advances in the identification of potential novel targets for immunomodulation that can be exploited therapeutically...
June 9, 2017: Trends in Parasitology
https://www.readbyqxmd.com/read/28604031/spontaneous-gaze-selection-and-following-during-naturalistic-social-interactions-in-school-aged-children-and-adolescents-with-autism-spectrum-disorder
#13
Elina Birmingham, Krista Haley Smith Johnston, Grace Iarocci
Using a novel naturalistic paradigm allowing participants the freedom to spontaneously select and follow gaze cues in their environment, this study extends previous research conducted with younger children to determine whether school-age children with autism spectrum disorder (ASD, n = 17) demonstrate abnormal gaze following relative to typically developing (TD, n = 15) children. The participant and experimenter played a series of games, during which the experimenter pseudorandomly averted her gaze toward a social target (person) or a nonsocial target (object)...
June 12, 2017: Canadian Journal of Experimental Psychology, Revue Canadienne de Psychologie Expérimentale
https://www.readbyqxmd.com/read/28590943/suppressed-play-behaviour-and-decreased-oxytocin-receptor-binding-in-the-amygdala-after-prenatal-exposure-to-low-dose-valproic-acid
#14
Freja Bertelsen, Davide Folloni, Arne Møller, Anne M Landau, Jørgen Scheel-Krüger, Michael Winterdahl
To better understand the role of the neuropeptide oxytocin in autism spectrum disorder (ASD), we investigated potential deficits in social play behaviour and oxytocin receptor (OXTR) density alterations in the amygdala in a rodent model of ASD. Pregnant rats were injected daily with 20 or 100 mg/kg valproic acid (VPA) or saline from day 12 until the end of pregnancy. The number of pinning and pouncing events was assessed at postnatal days 29-34. Brains from male offspring (n=7/group) were removed at postnatal day 50...
June 6, 2017: Behavioural Pharmacology
https://www.readbyqxmd.com/read/28589497/frequency-of-dendritic-cells-and-their-expression-of-costimulatory-molecules-in-children-with-autism-spectrum-disorders
#15
Khaled Saad, Asmaa M Zahran, Khalid I Elsayh, Ahmed A Abdel-Rahman, Abdulrahman A Al-Atram, Almontaser Hussein, Yasmin G El-Gendy
The aim of our study was to evaluate the frequencies of myeloid dendritic cells (mDCs) and plasmacytoid dendritic cells (pDCs) in children with ASD. Subjects were 32 children with ASD and 30 healthy children as controls. The numbers of mDCs and pDCs and the expression of CD86 and CD80 on the entire DCs were detected by flow cytometry. ASD children had significantly higher percentages of mDCs and pDCs when compared to controls. We found significant inverse relationships between serum 25-hydroxyvitamin D levels and the frequencies of mDCs and pDCs in autistic children...
June 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28588275/de-novo-non-synonymous-tbl1xr1-mutation-alters-wnt-signaling-activity
#16
Akira Nishi, Shusuke Numata, Atsushi Tajima, Xiaolei Zhu, Koki Ito, Atsushi Saito, Yusuke Kato, Makoto Kinoshita, Shinji Shimodera, Shinji Ono, Shinichiro Ochi, Akira Imamura, Naohiro Kurotaki, Shu-Ichi Ueno, Nakao Iwata, Kiyoshi Fukui, Issei Imoto, Atsushi Kamiya, Tetsuro Ohmori
Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents. Among nine SNVs, we explored the functional impact of the de novo mutation in TBL1XR1 [c.30 C > G (p.Phe10Leu)], a gene previously found to be associated with autism spectrum disorder and epilepsy. Protein structural analysis revealed that Phe10Leu mutation may decrease the structural stability of the TBL1XR1 protein...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28586261/modulation-of-reward-in-a-live-social-context-as-revealed-through-interactive-social-neuroscience
#17
Max J Rolison, Adam J Naples, Helena J V Rutherford, James C McPartland
Social neuroscience research investigating autism spectrum disorder (ASD) has yielded inconsistent findings, despite ASD being well-characterized by difficulties in social interaction and communication through behavioral observation. In particular, specific etiologies and functional and structural assays of the brain in autism have not been consistently identified. To date, most social neuroscience research has focused on a single person viewing static images. Research utilizing interactive social neuroscience featuring dual-brain recording offers great promise for the study of neurodevelopmental disabilities...
June 14, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28576939/the-x-linked-intellectual-disability-protein-il1rapl1-regulates-dendrite-complexity
#18
Caterina Montani, Mariana Ramos-Brossier, Luisa Ponzoni, Laura Gritti, Andrzej W Cwetsch, Daniela Braida, Yoann Saillour, Benedetta Terragni, Massimo Mantegazza, Mariaelvina Sala, Chiara Verpelli, Pierre Billuart, Carlo Sala
Mutations and deletions of Interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene, localized on X chromosome, are associated to intellectual disability (ID) and autism spectrum disorder (ASD). IL1RAPL1 protein is localized at the postsynaptic compartment of excitatory synapses and plays a role in synapse formation and stabilization. Here we characterized the role of IL1RAPL1 in regulating dendrite morphology using primary neuronal cultures and Il1rapl1-KO mice. We identified, associated to hippocampal cognitive impairment, an increased number of dendrite branching points in CA1 and CA2 hippocampal neurons of Il1rapl1-KO mice...
June 2, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28575650/defects-in-the-cell-signaling-mediator-%C3%AE-catenin-cause-the-retinal-vascular-condition-fevr
#19
Evangelia S Panagiotou, Carla Sanjurjo Soriano, James A Poulter, Emma C Lord, Denisa Dzulova, Hiroyuki Kondo, Atsushi Hiyoshi, Brian Hon-Yin Chung, Yoyo Wing-Yiu Chu, Connie H Y Lai, Mark E Tafoya, Dyah Karjosukarso, Rob W J Collin, Joanne Topping, Louise M Downey, Manir Ali, Chris F Inglehearn, Carmel Toomes
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all FEVR-affected case subjects do not harbor mutations in these genes, indicating that further mutated genes remain to be identified...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28566948/clinical-and-autoimmune-features-of-a-patient-with-autism-spectrum-disorder-seropositive-for-anti-nmda-receptor-autoantibody
#20
Hélène Gréa, Isabelle Scheid, Alexandru Gaman, Véronique Rogemond, Sandy Gillet, Jérôme Honnorat, Federico Bolognani, Christian Czech, Céline Bouquet, Elie Toledano, Manuel Bouvard, Richard Delorme, Laurent Groc, Marion Leboyer
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by dysfunctions in social interactions resulting from a complex interplay between immunogenetic and environmental risk factors. Autoimmunity has been proposed as a major etiological component of ASD. Whether specific autoantibodies directed against brain targets are involved in ASD remains an open question. Here, we identified within a cohort an ASD patient with multiple circulating autoantibodies, including the well-characterized one against glutamate NMDA receptor (NMDAR-Ab)...
March 2017: Dialogues in Clinical Neuroscience
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