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Autism etiology

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https://www.readbyqxmd.com/read/28631035/brief-report-the-negev-hospital-university-based-hub-autism-database
#1
Gal Meiri, Ilan Dinstein, Analya Michaelowski, Hagit Flusser, Michal Ilan, Michal Faroy, Asif Bar-Sinai, Liora Manelis, Dana Stolowicz, Lili Lea Yosef, Nadav Davidovitch, Hava Golan, Shosh Arbelle, Idan Menashe
Elucidating the heterogeneous etiologies of autism will require investment in comprehensive longitudinal data acquisition from large community based cohorts. With this in mind, we have established a hospital-university-based (HUB) database of autism which incorporates prospective and retrospective data from a large and ethnically diverse population. The collected data includes social-demographic characteristics, standardized behavioral testing, detailed clinical history from electronic patient records, genetic samples, and various neurological measures...
June 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28625682/are-circadian-rhythms-new-pathways-to-understand-autism-spectrum-disorder
#2
M-M Geoffray, A Nicolas, M Speranza, N Georgieff
Autism Spectrum Disorder (ASD) is a frequent neurodevelopmental disorder. ASD is probably the result of intricate interactions between genes and environment altering progressively the development of brain structures and functions. Circadian rhythms are a complex intrinsic timing system composed of almost as many clocks as there are body cells. They regulate a variety of physiological and behavioral processes such as the sleep- wake rhythm. ASD is often associated with sleep disorders and low levels of melatonin...
June 15, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28609577/cerebrolysin-prevents-deficits-in-social-behavior-repetitive-conduct-and-synaptic-inhibition-in-a-rat-model-of-autism
#3
Roberto Cuevas-Olguin, Swagata Roychowdhury, Anwesha Banerjee, Francisco Garcia-Oscos, Eric Esquivel-Rendon, María Elena Bringas, Michael P Kilgard, Gonzalo Flores, Marco Atzori
Autism spectrum disorder (ASD) is a syndrome of diverse neuropsychiatric diseases of growing incidence characterized by repetitive conduct and impaired social behavior and communication for which effective pharmacological treatment is still unavailable. While the mechanisms and etiology of ASD are still unknown, a consensus is emerging about the synaptic nature of the syndrome, suggesting a possible avenue for pharmacological treatment with synaptogenic compounds. The peptidic mixture cerebrolysin (CBL) has been successfully used during the last three decades in the treatment of stroke and neurodegenerative disease...
June 13, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28608855/mice-lacking-the-chromodomain-helicase-dna-binding-5-chromatin-remodeler-display-autism-like-characteristics
#4
M T Pisansky, A E Young, M B O'Connor, I I Gottesman, A Bagchi, J C Gewirtz
Although autism spectrum disorders (ASDs) share a core set of nosological features, they exhibit substantial genetic heterogeneity. A parsimonious hypothesis posits that dysregulated epigenetic mechanisms represent common pathways in the etiology of ASDs. To investigate this hypothesis, we generated a novel mouse model resulting from brain-specific deletion of chromodomain helicase DNA-binding 5 (Chd5), a chromatin remodeling protein known to regulate neuronal differentiation and a member of a gene family strongly implicated in ASDs...
June 13, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#5
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28608247/tryptophan-status-in-autism-spectrum-disorder-and-the-influence-of-supplementation-on-its-level
#6
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/28607477/gabaa-receptor-subunit-gene-polymorphisms-predict-symptom-based-and-developmental-deficits-in-chinese-han-children-and-adolescents-with-autistic-spectrum-disorders
#7
Shuhan Yang, Xuan Guo, Xiaopeng Dong, Yu Han, Lei Gao, Yuanyuan Su, Wei Dai, Xin Zhang
GABAA receptor subunit genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11-q13 have been implicated in the etiology of autistic spectrum disorders (ASD). This study intended to investigate the possible role of single-nucleotide polymorphisms (SNPs) present in GABRB3 (rs2081648 and rs1426217), GABRA5 (rs35586628), and GABRG3 (rs208129) genes in ASD susceptibility and symptom-based and developmental phenotypes of ASD in Chinese Han children and adolescents. 99 ASD patients and 231 age- and gender- frequency-matched typical developing (TD) controls were tested by TaqMan® genotyping assay...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28586261/modulation-of-reward-in-a-live-social-context-as-revealed-through-interactive-social-neuroscience
#8
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/28585386/understanding-neurodevelopmental-disorders-using-human-pluripotent-stem-cell-derived-neurons
#9
Claudia Tamburini, Meng Li
Research into psychiatric disorders has long been hindered by the lack of appropriate models. Induced pluripotent stem cells (iPSCs) offer an unlimited source of patient-specific cells, which in principle can be differentiated into all disease-relevant somatic cell types to create in vitro models of the disorder of interest. Here, neuronal differentiation protocols available for this purpose and the current progress on iPSCs-based models of schizophrenia, autism spectrum disorders and bipolar disorder were reviewed...
July 2017: Brain Pathology
https://www.readbyqxmd.com/read/28584888/autism-spectrum-disorder-neuropathology-and-animal-models
#10
REVIEW
Merina Varghese, Neha Keshav, Sarah Jacot-Descombes, Tahia Warda, Bridget Wicinski, Dara L Dickstein, Hala Harony-Nicolas, Silvia De Rubeis, Elodie Drapeau, Joseph D Buxbaum, Patrick R Hof
Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each...
June 5, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28584692/human-embryonic-stem-cells-in-the-treatment-of-autism-a-case-series
#11
Geeta Shroff
Background: Autism spectrum disorder is a neurodevelopmental disorder accompanied by weak immune system and neuroinflammation. Multiple factors contribute to etiology of autism spectrum disorder including genetic disorders, environmental substances/toxins, imbalanced immune system, encephalitis, and viral infections. Autism spectrum disorder is an incurable disease; however, it can be managed by educational and medical interventions. Human embryonic stem cell therapy has been shown to improve blood perfusion in the brain; thus, this therapy may be effective in improving motor skills, social skills, and cognition in patients with autism spectrum disorder...
March 2017: Innovations in Clinical Neuroscience
https://www.readbyqxmd.com/read/28579490/habituation-is-altered-in-neuropsychiatric-disorders-a-comprehensive-review-with-recommendations-for-experimental-design-and-analysis
#12
REVIEW
Troy A McDiarmid, Aram C Bernardos, Catharine H Rankin
Abnormalities in the simplest form of learning, habituation, have been reported in a variety of neuropsychiatric disorders as etiologically diverse as Autism Spectrum Disorder, Fragile X syndrome, Schizophrenia, Parkinson's Disease, Huntington's Disease, Attention Deficit Hyperactivity Disorder, Tourette's Syndrome, and Migraine. Here we provide the first comprehensive review of what is known about alterations in this form of non-associative learning in each disorder. Across several disorders, abnormal habituation is predictive of symptom severity, highlighting the clinical significance of habituation and its importance to normal cognitive function...
June 1, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28577550/study-protocol-of-the-asd-net-the-german-research-consortium-for-the-study-of-autism-spectrum-disorder-across-the-lifespan-from-a-better-etiological-understanding-through-valid-diagnosis-to-more-effective-health-care
#13
Inge Kamp-Becker, Luise Poustka, Christian Bachmann, Stefan Ehrlich, Falk Hoffmann, Philipp Kanske, Peter Kirsch, Sören Krach, Frieder Michel Paulus, Marcella Rietschel, Stefan Roepke, Veit Roessner, Tanja Schad-Hansjosten, Tania Singer, Sanna Stroth, Stephanie Witt, Anne-Kathrin Wermter
BACKGROUND: Autism Spectrum Disorder (ASD) is a severe, lifelong neurodevelopmental disorder with early onset that places a heavy burden on affected individuals and their families. Due to the need for highly specialized health, educational and vocational services, ASD is a cost-intensive disorder, and strain on health care systems increases with increasing age of the affected individual. METHODS: The ASD-Net will study Germany's largest cohort of patients with ASD over the lifespan...
June 2, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28569757/fetal-and-postnatal-metal-dysregulation-in-autism
#14
Manish Arora, Abraham Reichenberg, Charlotte Willfors, Christine Austin, Chris Gennings, Steve Berggren, Paul Lichtenstein, Henrik Anckarsäter, Kristiina Tammimies, Sven Bölte
Genetic and environmental factors contribute to the etiologies of autism spectrum disorder (ASD), but evidence of specific environmental exposures and susceptibility windows is limited. Here we study monozygotic and dizygotic twins discordant for ASD to test whether fetal and postnatal metal dysregulation increases ASD risk. Using validated tooth-matrix biomarkers, we estimate pre- and post-natal exposure profiles of essential and toxic elements. Significant divergences are apparent in metal uptake between ASD cases and their control siblings, but only during discrete developmental periods...
June 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/28567415/neurodevelopmental-disorders-and-environmental-toxicants-epigenetics-as-an-underlying-mechanism
#15
REVIEW
Nguyen Quoc Vuong Tran, Kunio Miyake
The increasing prevalence of neurodevelopmental disorders, especially autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD), calls for more research into the identification of etiologic and risk factors. The Developmental Origin of Health and Disease (DOHaD) hypothesizes that the environment during fetal and childhood development affects the risk for many chronic diseases in later stages of life, including neurodevelopmental disorders. Epigenetics, a term describing mechanisms that cause changes in the chromosome state without affecting DNA sequences, is suggested to be the underlying mechanism, according to the DOHaD hypothesis...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28566948/clinical-and-autoimmune-features-of-a-patient-with-autism-spectrum-disorder-seropositive-for-anti-nmda-receptor-autoantibody
#16
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
https://www.readbyqxmd.com/read/28559932/exploring-the-heterogeneity-of-neural-social-indices-for-genetically-distinct-etiologies-of-autism
#17
Caitlin M Hudac, Holly A F Stessman, Trent D DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E Eichler, Raphael A Bernier
BACKGROUND: Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder. Promising initiatives utilizing interdisciplinary characterization of ASD suggest phenotypic subtypes related to specific likely gene-disrupting mutations (LGDMs). However, the role of functionally associated LGDMs in the neural social phenotype is unknown. METHODS: In this study of 26 children with ASD (n = 13 with an LGDM) and 13 control children, we characterized patterns of mu attenuation and habituation as children watched videos containing social and nonsocial motions during electroencephalography acquisition...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28557507/structural-learning-difficulties-implicate-altered-hippocampal-functioning-in-adults-with-autism-spectrum-disorder
#18
Melanie Ring, Claire L T Derwent, Sebastian B Gaigg, Dermot M Bowler
Structural learning is fundamental to the formation of cognitive maps that are necessary for learning, memory, and spatial navigation. It also enables successful navigation of the social world, which is something that individuals with autism spectrum disorder (ASD) find particularly difficult. To master these situations, a person needs to bind pieces of information to one another and to consider the context in which experiences happen. Such binding is a capacity of the hippocampus. Although altered hippocampal function has for long been suspected to play a role in the etiology of ASD, the relevant evidence has remained inconclusive because few behavioral tests that are known to specifically necessitate preserved hippocampal function have been employed in studies of ASD...
May 29, 2017: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/28548194/-heritability-and-genetic-comorbidity-of-attention-deficit-disorder-with-hyperactivity
#19
Giannina Puddu, Paula Rothhammer, Ximena Carrasco, Francisco Aboitiz, Francisco Rothhammer
This review aims to summarize information about the genetic etiology of attention deficit disorder with hyperactivity (ADHD), with particular reference to the contributions of our research group. We also discuss the genetic comorbidity estimated from genome-wide single nucleotide polymorphisms (SNP´s) between ADHD and major psychiatric disorders such as schizophrenia (E), major depressive disorder (MDD), bipolar disorder (BD) and autism spectrum disorders (ASD). A high genetic comorbidity was found between E and BD (46%), a moderate comorbidity between MDD and E, MDD and BD and MDD and ADHD (18%, 22% and 10% respectively) and a low comorbidity between E and ASD (2...
March 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28536923/single-nucleotide-polymorphisms-in-slc19a1-and-slc25a9-are-associated-with-childhood-autism-spectrum-disorder-in-the-chinese-han-population
#20
Jun Liu, Weiming Mo, Zengyu Zhang, Hong Yu, Aiping Yang, Fei Qu, Pingfang Hu, Zhuo Liu, Shihu Wang
Genetic variants have been implicated in the development of autism spectrum disorder (ASD). Recent studies suggest that solute carriers (SLCs) may play a role in the etiology of ASD. This purpose of this study was to determine the association between single nucleotide polymorphisms (SNPs) in SLC19A1 and SLC25A12 genes with childhood ASD in a Chinese Han population. A total of 201 autistic children and 200 age- and gender-matched healthy controls were recruited. A TaqMan probe-based real-time PCR approach was used to determine genotypes of SNPs corresponding to rs1023159 and rs1051266 in SLC19A1, and rs2056202 and rs2292813 in SLC25A12...
June 2017: Journal of Molecular Neuroscience: MN
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