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https://www.readbyqxmd.com/read/28335463/dysfunctional-mtorc1-signaling-a-convergent-mechanism-between-syndromic-and-nonsyndromic-forms-of-autism-spectrum-disorder
#1
REVIEW
Juliana Magdalon, Sandra M Sánchez-Sánchez, Karina Griesi-Oliveira, Andréa L Sertié
Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway has been identified as a molecular feature common to several well-characterized syndromes with high prevalence of ASD. Additionally, recent findings have also implicated mTORC1 signaling abnormalities in a subset of nonsyndromic ASD, suggesting that defective mTORC1 pathway may be a potential converging mechanism in ASD pathology across different etiologies...
March 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28326932/a-critical-role-of-spinal-shank2-proteins-in-nmda-induced-pain-hypersensitivity
#2
Seo-Yeon Yoon, Soon-Gu Kwon, Yong Ho Kim, Ji-Hee Yeo, Hyoung-Gon Ko, Dae-Hyun Roh, Bong-Kiun Kaang, Alvin J Beitz, Jang-Hern Lee, Seog Bae Oh
Background Self-injurious behaviors (SIBs) are devastating traits in autism spectrum disorder (ASD). Although deficits in pain sensation might be one of the contributing factors underlying the development of SIBs, the mechanisms have yet to be addressed. Recently, the Shank2 synaptic protein has been considered to be a key component in ASD, and mutations of SHANK2 gene induce the dysfunction of N-methyl-D-aspartate (NMDA) receptors, suggesting a link between Shank2 and NMDA receptors in ASD. Given that spinal NMDA receptors play a pivotal role in pain hypersensitivity, we investigated the possible role of Shank2 in nociceptive hypersensitivity by examining changes in spontaneous pain following intrathecal NMDA injection in S hank2-/- ( Shank2 knock-out, KO) mice...
January 2017: Molecular Pain
https://www.readbyqxmd.com/read/28321286/crispr-cas9-mediated-heterozygous-knockout-of-the-autism-gene-chd8-and-characterization-of-its-transcriptional-networks-in-cerebral-organoids-derived-from-ips-cells
#3
Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng, Herbert M Lachman
BACKGROUND: CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies. Loss of function mutations in the gene have also been found in schizophrenia (SZ) and intellectual disabilities and influence cancer cell proliferation. We previously reported an RNA-seq analysis carried out on neural progenitor cells (NPCs) and monolayer neurons derived from induced pluripotent stem (iPS) cells that were heterozygous for CHD8 knockout (KO) alleles generated using CRISPR-Cas9 gene editing...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316774/glutathione-metabolism-in-the-prefrontal-brain-of-adults-with-high-functioning-autism-spectrum-disorder-an-mrs-study
#4
Dominique Endres, Ludger Tebartz van Elst, Simon A Meyer, Bernd Feige, Kathrin Nickel, Anna Bubl, Andreas Riedel, Dieter Ebert, Thomas Lange, Volkmar Glauche, Monica Biscaldi, Alexandra Philipsen, Simon J Maier, Evgeniy Perlov
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by difficulties in social communication, unusually restricted, repetitive behavior and interests, and specific abnormalities in language and perception. The precise etiology of ASD is still unknown and probably heterogeneous. In a subgroup of patients, toxic environmental exposure might lead to an imbalance between oxidative stress and anti-oxidant systems. Previous serum and postmortem studies measuring levels of glutathione (GSH), the main cellular free radical scavenger in the brain, have supported the hypothesis that this compound might play a role in the pathophysiology of autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28315628/association-of-estrogen-receptor-alpha-polymorphisms-with-symptoms-of-autism-among-chinese-han-children
#5
Xuelai Wang, Shuang Liang, Takashi X Fujisawa, Shota Nishitani, Akemi Tomoda, Mingyang Zou, Yang Li, Lijie Wu, Kazuyuki Shinohara
OBJECTIVES: Autism has a significant sex difference. This implies that the sex hormones might have effect on autism. Estrogens play an important role in early nervous system development and sex differentiation through estrogen receptors in brain. Thus, we tested the hypothesis that estrogen receptor alpha (ESR1) gene affects the pathogenesis of autism and related symptoms. METHODS: Genotypes of rs11155819 and rs2234693 were determined in boys with autism and normal boys from Chinese Han population...
November 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28314621/docosahexaenoic-acid-dha-an-essential-nutrient-and-a-nutraceutical-for-brain-health-and-diseases
#6
REVIEW
Grace Y Sun, Agnes Simonyi, Kevin L Fritsche, Dennis Y Chuang, Mark Hannink, Zezong Gu, C Michael Greenlief, Jeffrey K Yao, James C Lee, David Q Beversdorf
Docosahexaenoic acid (DHA), a polyunsaturated fatty acid (PUFA) enriched in phospholipids in the brain and retina, is known to play multi-functional roles in brain health and diseases. While arachidonic acid (AA) is released from membrane phospholipids by cytosolic phospholipase A2 (cPLA2), DHA is linked to action of the Ca(2+)-independent iPLA2. DHA undergoes enzymatic conversion by 15-lipoxygenase (Alox 15) to form oxylipins including resolvins and neuroprotectins, which are powerful lipid mediators. DHA can also undergo non-enzymatic conversion by reacting with oxygen free radicals (ROS), which cause the production of 4-hydoxyhexenal (4-HHE), an aldehyde derivative which can form adducts with DNA, proteins and lipids...
March 10, 2017: Prostaglandins, Leukotrienes, and Essential Fatty Acids
https://www.readbyqxmd.com/read/28303423/theory-of-mind-predominantly-associated-with-the-quality-not-quantity-of-pretend-play-in-children-with-autism-spectrum-disorder
#7
Shu-Kai Lin, Ching-Hong Tsai, Hsing-Jung Li, Chien-Yu Huang, Kuan-Lin Chen
This study aimed to clarify the relationships between theory of mind and pretend play in children with autism spectrum disorder, using refined assessments of theory of mind and pretend play while controlling for autistic behaviors and verbal comprehension. A total of 92 children with autism spectrum disorder aged 4-10 years were enrolled. In two visits, the children were assessed with the Theory of Mind Task Battery, the Child-Initiated Pretend Play Assessment, the Childhood Autism Rating Scale, and the Verbal Comprehension Index of the Wechsler Intelligence Scales, respectively, for their theory of mind, pretend play performance, autistic behaviors, and verbal comprehension...
March 16, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/28299627/analysis-of-estrogen-receptor-%C3%AE-gene-methylation-in-autistic-males-in-a-chinese-han-population
#8
Xuelai Wang, Shuang Liang, Yi Sun, Haixin Li, Fumio Endo, Mitsuyoshi Nakao, Noriko Saitoh, Lijie Wu
Autism spectrum disorder (ASD) is a neurodevelopment disorder with abnormalities of social interaction, communication and repetitive behaviors. The higher prevalence of ASD in men implies a potential relationship between sex hormones and ASD etiology. The ESR2 gene encodes estrogen receptor beta (ESR2) and plays an important role during brain development. A relationship between ESR2 and ASD has been suggested by studies on single nucleotide polymorphisms and mRNA and protein expression levels in ASD patients...
March 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28298276/early-life-nutritional-programming-of-cognition-the-fundamental-role-of-epigenetic-mechanisms-in-mediating-the-relation-between-early-life-environment-and-learning-and-memory-process
#9
REVIEW
Laura Moody, Hong Chen, Yuan-Xiang Pan
The perinatal period is a window of heightened plasticity that lays the groundwork for future anatomic, physiologic, and behavioral outcomes. During this time, maternal diet plays a pivotal role in the maturation of vital organs and the establishment of neuronal connections. However, when perinatal nutrition is either lacking in specific micro- and macronutrients or overloaded with excess calories, the consequences can be devastating and long lasting. The brain is particularly sensitive to perinatal insults, with several neurologic and psychiatric disorders having been linked to a poor in utero environment...
March 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28291971/can-gut-microbes-play-a-role-in-mental-disorders-and-their-treatment
#10
Klara Latalova, Miroslav Hajda, Jan Prasko
The gut microbes, collectively called microbiota, are linked to the brain through a bidirectional system that involves the vagus nerve, the immune system, and various neurotransmitters. Stress response, memory functions, social behavior, and mood are modulated by microbiota. Furthermore, microbiota play a role in the development of the central nervous system. These features, established largely in rodent studies, have informed hypotheses about the role of microbiota in human psychiatric disorders. Microbiota affect phenomena that are known to be parts of the depression phenotype, such as exaggerated response to stress and inflammatory features...
March 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#11
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28284951/hippocampal-bdnf-overexpression-or-micror124a-silencing-reduces-anxiety-and-autism-like-behaviors-in-rats
#12
Amine Bahi
MicroRNA124a (miR124a) has emerged recently as a key player for multiple neuropsychiatric disorders including depression, anxiety, alcoholism, and cocaine addiction. Although we have previously reported that miR124a and its target the brain-derived neutrophic factor (BDNF) play an important role in autism-like behaviors, the molecular and behavioral dysfunctions remain unknown. The aim of this study was to understand the effects of sustained decreases in miR124a and increases of BDNF in the dentate gyrus (DG) on neonatal isolation-induced anxiety-and autism like behaviors in rats...
March 8, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28284582/the-association-of-cntnap2-rs7794745-gene-polymorphism-and-autism-in-iranian-population
#13
Sahar Zare, Farhad Mashayekhi, Elham Bidabadi
Autism is a heterogeneous and multifactorial disease that results from the interaction between genetic vulnerability and environmental factors. Several studies showed that many of genes that play role in autism are component of signaling networks that regulate growth and synaptic plasticity, play an important role in the etiology of autism. Contactin associated-like 2 (CNTNAP2) gene is a member of the superfamily of synaptic adhesion proteins and encodes a scaffold protein called CASPR2 that is involved in the interaction of neuron-glia and clusters K(+) channels in myelinated axons...
March 8, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28281642/feature-and-motion-based-gaze-cuing-is-linked-with-reduced-social-competence
#14
Dana A Hayward, Jelena Ristic
Gaze following is a fundamental ability that plays an important role in human social function. However, the link between these two processes remains elusive. On the one hand, typically developing persons show robust gaze following in laboratory cuing tasks. On the other hand, investigations with individuals with autism suggest that reduced social competence in this population may partly reflect an atypical access to social information through attending to perceptual changes that normally accompany gaze shifts, like luminance or motion transients...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28272116/l-methylfolate-supplementation-in-a-child-with-autism-and-methyltetrahydrofolate-reductase-enzyme-gene-c677tt-allele
#15
Kim S Siscoe, W David Lohr
Errors in folate metabolism may play a role in the pathology of autism spectrum disorders because of increased vulnerability to oxidative stress. We report a case where L-methylfolate supplementation improved symptoms of aggression and disruptive behavior in a child with autism who tested positive for the C677TT allele of the methyltetrahydrofolate reductase enzyme gene. To our knowledge, this is the first report of L-methylfolate administration in this situation. Further controlled studies of L-methylfolate in this population are warranted...
March 7, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28266806/a-pilot-study-of-serotonergic-modulation-after-long-term-administration-of-oxytocin-in-autism-spectrum-disorder
#16
Tetsu Hirosawa, Mitsuru Kikuchi, Yasuomi Ouchi, Tetsuya Takahashi, Yuko Yoshimura, Hirotaka Kosaka, Naoki Furutani, Hirotoshi Hiraishi, Mina Fukai, Masamichi Yokokura, Etsuji Yoshikawa, Tomoyasu Bunai, Yoshio Minabe
Oxytocin (OT) and the serotonergic system putatively play important roles in autism spectrum disorder (ASD) etiology and symptoms, but no direct neurobiological evidence exists for long-term OT administration effects on the brain's serotonergic system. This pilot study examined 10 male participants with ASD who were administered OT intranasally for 8-10 weeks in an open-label, single-arm, nonrandomized, and uncontrolled manner. Positron emission tomography (PET) with a radiotracer ((11) C)-3-amino-4-(2-[(dimethylamino)methyl]phenylthio)benzonitrile ((11) C-DASB) was used before and after OT treatment...
March 7, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28262759/role-of-a-circadian-relevant-gene-nr1d1-in-brain-development-possible-involvement-in-the-pathophysiology-of-autism-spectrum-disorders
#17
Masahide Goto, Makoto Mizuno, Ayumi Matsumoto, Zhiliang Yang, Eriko F Jimbo, Hidenori Tabata, Takanori Yamagata, Koh-Ichi Nagata
In our previous study, we screened autism spectrum disorder (ASD) patients with and without sleep disorders for mutations in the coding regions of circadian-relevant genes, and detected mutations in several clock genes including NR1D1. Here, we further screened ASD patients for NR1D1 mutations and identified three novel mutations including a de novo heterozygous one c.1499 G > A (p.R500H). We then analyzed the role of Nr1d1 in the development of the cerebral cortex in mice. Acute knockdown of mouse Nr1d1 with in utero electroporation caused abnormal positioning of cortical neurons during corticogenesis...
March 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28259864/-an-attempt-to-identify-22q11-2-microdeletions-in-samples-of-the-hungarian-schizophrenia-dna-bank-by-multiplex-ligation-based-probe-amplification-mlpa-literature-review-methodology-and-results
#18
Izabella Klein, Katalin Szocs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente Herman, Janos M Rethelyi
Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a life-time prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28258508/a-volumetric-and-functional-connectivity-mri-study-of-brain-arginine-vasopressin-pathways-in-autistic-children
#19
Xiao-Jing Shou, Xin-Jie Xu, Xiang-Zhu Zeng, Ying Liu, Hui-Shu Yuan, Yan Xing, Mei-Xiang Jia, Qing-Yun Wei, Song-Ping Han, Rong Zhang, Ji-Sheng Han
Dysfunction of brain-derived arginine-vasopressin (AVP) systems may be involved in the etiology of autism spectrum disorder (ASD). Certain regions such as the hypothalamus, amygdala, and hippocampus are known to contain either AVP neurons or terminals and may play an important role in regulating complex social behaviors. The present study was designed to investigate the concomitant changes in autistic behaviors, circulating AVP levels, and the structure and functional connectivity (FC) of specific brain regions in autistic children compared with typically developing children (TDC) aged from 3 to 5 years...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28256681/-deconstructing-kanner
#20
J Artigas-Pallares, I Paula-Perez
Kanner, in 1943, and Asperger, in 1944, published papers that have been considered the first descriptions of autism. Kanner is acknowledged as having been the first to recognise this condition, while Asperger is attributed with the identification of a milder form of autism which has been denominated Asperger's syndrome. Kanner's paper played an important role in the development of the conceptualisation of autism due to its being published in the United States, where it became popular in the field of child psychiatry...
February 24, 2017: Revista de Neurologia
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