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Autism etiology

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https://www.readbyqxmd.com/read/28077936/redox-proteomic-identification-of-carbonylated-proteins-in-autism-plasma-insight-into-oxidative-stress-and-its-related-biomarkers-in-autism
#1
Chengyun Feng, Youjiao Chen, Jintao Pan, Aochu Yang, Li Niu, Jie Min, Xianling Meng, Liping Liao, Kaoyuan Zhang, Liming Shen
BACKGROUND: Autism is a severe childhood neurological disorder with poorly understood etiology and pathology. Currently, there is no authentic laboratory test to confirm the diagnosis of autism. Oxidative damage may play a central role in the pathogenesis of autism. Present study is an effort to search for possible biomarkers of autism and further clarify the molecular changes associated with oxidative stress that occurs in the plasma of autistic children. METHODS: We performed redox proteomics analysis to compare carbonylated proteins in the plasma of autistic subjects and healthy controls...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28074329/dietary-adequacy-of-egyptian-children-with-autism-spectrum-disorder-compared-to-healthy-developing-children
#2
Nagwa A Meguid, Mona Anwar, Geir Bjørklund, Adel Hashish, Salvatore Chirumbolo, Maha Hemimi, Eman Sultan
Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking...
January 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28068486/the-changing-epidemiology-of-autism-spectrum-disorders
#3
Kristen Lyall, Lisa Croen, Julie Daniels, M Daniele Fallin, Christine Ladd-Acosta, Brian K Lee, Bo Y Park, Nathaniel W Snyder, Diana Schendel, Heather E Volk, Gayle C Windham, Craig Newschaffer
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Research on ASD epidemiology has made significant advances in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations and gained footing in the areas of polygenic risk, epigenetics, and gene-by-environment interaction...
December 21, 2016: Annual Review of Public Health
https://www.readbyqxmd.com/read/28063882/mice-lacking-grip1-2-show-increased-social-interactions-and-enhanced-phosphorylation-at-glua2-s880
#4
Mei Han, Rebeca Mejias, Shu-Ling Chiu, Rebecca Rose, Abby Adamczyk, Richard Huganir, Tao Wang
Glutamate receptor interacting proteins 1 and 2 (GRIP1/2) play an important role in regulating synaptic trafficking of AMPA receptor 2/3 (GluA2/3) and synaptic strength. Gain-of-function GRIP1 mutations are implicated in social behavioral deficits in autism. To study mechanisms of Grip1/2-mediated AMPA signaling in the regulation of social behaviors, we performed social behavioral testing on neuron-specific Grip1/2-double knockout (DKO) and wild type (WT) mice that are matched for age, sex, and strain background...
January 4, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28018676/increased-serum-levels-of-tumor-necrosis-factor-alpha-resistin-and-visfatin-in-the-children-with-autism-spectrum-disorders-a-case-control-study
#5
Mohammad Ali Ghaffari, Elham Mousavinejad, Forough Riahi, Masoumeh Mousavinejad, Mohammad Reza Afsharmanesh
Background. Autism spectrum disorders (ASDs) are complex disorders where the pathogenesis is not fully understood. Several proinflammatory and immunoinflammatory disturbances have been observed in the etiology of ASD. There is, however, limited knowledge on variations of adipokines in ASD. The present study aimed to analyze the serum levels of resistin, visfatin, and tumor necrosis factor-alpha (TNF-α) in children with ASD in relation to body weight, gender, and ASD severity level. Method. In total, 30 children with ASD (mean age: 7...
2016: Neurology Research International
https://www.readbyqxmd.com/read/27984183/repeated-prenatal-exposure-to-valproic-acid-results-in-cerebellar-hypoplasia-and-ataxia
#6
Stacey L Main, Randy J Kulesza
Autism spectrum disorder (ASD) is a developmental brain disorder characterized by restricted and repetitive patterns of behavior, social and communication defects, and is commonly associated with difficulties with motor coordination. The etiology of ASD, while mostly idiopathic, has been linked to hereditary factors and teratogens, such as valproic acid (VPA). VPA is used clinically to treat epilepsy, mood disorders, and in the prevention of migraines. The use of VPA during pregnancy significantly increases the risk of ASD in the offspring...
October 27, 2016: Neuroscience
https://www.readbyqxmd.com/read/27975050/clinical-performance-of-an-ultrahigh-resolution-chromosomal-microarray-optimized-for-neurodevelopmental-disorders
#7
Karen S Ho, Hope Twede, Rena Vanzo, Erin Harward, Charles H Hensel, Megan M Martin, Stephanie Page, Andreas Peiffer, Patricia Mowery-Rushton, Moises Serrano, E Robert Wassman
Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27974215/cumulative-impact-of-polychlorinated-biphenyl-and-large-chromosomal-duplications-on-dna-methylation-chromatin-and-expression-of-autism-candidate-genes
#8
Keith W Dunaway, M Saharul Islam, Rochelle L Coulson, S Jesse Lopez, Annie Vogel Ciernia, Roy G Chu, Dag H Yasui, Isaac N Pessah, Paul Lott, Charles Mordaunt, Makiko Meguro-Horike, Shin-Ichi Horike, Ian Korf, Janine M LaSalle
Rare variants enriched for functions in chromatin regulation and neuronal synapses have been linked to autism. How chromatin and DNA methylation interact with environmental exposures at synaptic genes in autism etiologies is currently unclear. Using whole-genome bisulfite sequencing in brain tissue and a neuronal cell culture model carrying a 15q11.2-q13.3 maternal duplication, we find that significant global DNA hypomethylation is enriched over autism candidate genes and affects gene expression. The cumulative effect of multiple chromosomal duplications and exposure to the pervasive persistent organic pollutant PCB 95 altered methylation of more than 1,000 genes...
December 13, 2016: Cell Reports
https://www.readbyqxmd.com/read/27965598/defining-precision-medicine-approaches-to-autism-spectrum-disorders-concepts-and-challenges
#9
Eva Loth, Declan G Murphy, Will Spooren
The tremendous clinical and etiological variability between individuals with autism spectrum disorder (ASD) has made precision medicine the most promising treatment approach. It aims to combine new pathophysiologically based treatments with objective tests (stratification biomarkers) to predict which treatment may be beneficial for a particular person. Here we discuss significant advances and current challenges for this approach: rare monogenic forms of ASD have provided a major breakthrough for the identification of treatment targets by providing a means to trace causal links from a gene to specific molecular alterations and biological pathways...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27959270/speculations-on-vitamin-k-vkorc1-genotype-and-autism
#10
M C DeSoto
Humans vary in the gene that encodes for Vitamin K epoxide reductase complex (VKORC1). Recent research has documented the protective effect of Vitamin K on neural cells and its role in maintaining normal neural development. Of interest, specific neural effects of Vitamin K overlap with key brain development aberrations, including those associated with autism. Furthermore, Vitamin K protects against oxidative stress associated with toxic exposure. Research on the neural effects is reviewed, and a small sample of severely autistic children of Somali descent residing in the Minneapolis/St...
November 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27956748/association-of-rare-missense-variants-in-the-second-intracellular-loop-of-nav1-7-sodium-channels-with-familial-autism
#11
M Rubinstein, A Patowary, I B Stanaway, E McCord, R R Nesbitt, M Archer, T Scheuer, D Nickerson, W H Raskind, E M Wijsman, R Bernier, W A Catterall, Z Brkanac
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five families in which second- and third-degree relatives were affected. By focusing on novel and protein-altering variants, we identified a small set of candidate genes...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27941670/chromosomal-microarray-analysis-of-consecutive-individuals-with-autism-spectrum-disorders-using-an-ultra-high-resolution-chromosomal-microarray-optimized-for-neurodevelopmental-disorders
#12
Karen S Ho, E Robert Wassman, Adrianne L Baxter, Charles H Hensel, Megan M Martin, Aparna Prasad, Hope Twede, Rena J Vanzo, Merlin G Butler
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory...
December 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27900342/cacna1c-protecting-young-hippocampal-neurons-in-the-adult-brain
#13
Héctor De Jesús-Cortés, Anjali M Rajadhyaksha, Andrew A Pieper
Neuropsychiatric disease is the leading cause of disability in the United States, and fourth worldwide.(1,2) Not surprisingly, human genetic studies have revealed a common genetic predisposition for many forms of neuropsychiatric disease, potentially explaining why overlapping symptoms are commonly observed across multiple diagnostic categories. For example, the CACNA1C gene was recently identified in the largest human genome-wide association study to date as a risk loci held in common across 5 major forms of neuropsychiatric disease: bipolar disorder, schizophrenia, major depressive disorder (MDD), autism spectrum disorder and attention deficit-hyperactivity disorder...
2016: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/27897003/de-novo-mutations-in-autism-implicate-the-synaptic-elimination-network
#14
Guhan Ram Venkataraman, Chloe O'Connell, Fumiko Egawa, Dorna Kashef-Haghighi, Dennis P Wall
Autism has been shown to have a major genetic risk component; the architecture of documented autism in families has been over and again shown to be passed down for generations. While inherited risk plays an important role in the autistic nature of children, de novo (germline) mutations have also been implicated in autism risk. Here we find that autism de novo variants verified and published in the literature are Bonferroni-significantly enriched in a gene set implicated in synaptic elimination. Additionally, several of the genes in this synaptic elimination set that were enriched in protein-protein interactions (CACNA1C, SHANK2, SYNGAP1, NLGN3, NRXN1, and PTEN) have been previously confirmed as genes that confer risk for the disorder...
2016: Pacific Symposium on Biocomputing
https://www.readbyqxmd.com/read/27895198/autism-and-reactive-attachment-disinhibited-social-engagement-disorders-co-occurrence-and-differentiation
#15
Susan Dickerson Mayes, Susan L Calhoun, Daniel A Waschbusch, Raman Baweja
DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th edition) Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare disorders sharing social difficulties with autism. The DSM-5 and ICD-10 (International Classification of Diseases, 10th revsion) state that RAD/DSED should not be diagnosed in children with autism. The purpose of our study is to determine whether children can meet criteria for both autism and RAD/DSED and to identify specific symptoms discriminating the disorders...
November 28, 2016: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#16
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27885946/epilepsy-surgery-in-patients-with-autism
#17
Malgosia A Kokoszka, Patricia E McGoldrick, Maite La Vega-Talbott, Hillary Raynes, Christina A Palmese, Steven M Wolf, Cynthia L Harden, Saadi Ghatan
OBJECTIVE The purpose of this study was to report outcomes of epilepsy surgery in 56 consecutive patients with autism spectrum disorder. METHODS Medical records of 56 consecutive patients with autism who underwent epilepsy surgery were reviewed with regard to clinical characteristics, surgical management, postoperative seizure control, and behavioral changes. RESULTS Of the 56 patients with autism, 39 were male, 45 were severely autistic, 27 had a history of clinically significant levels of aggression and other disruptive behaviors, and 30 were considered nonverbal at baseline...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27871640/multidimensional-influences-on-autism-symptom%C3%A2-measures-implications-for-use-in%C3%A2-etiological-research
#18
Karoline Alexandra Havdahl, Vanessa Hus Bal, Marisela Huerta, Andrew Pickles, Anne-Siri Øyen, Camilla Stoltenberg, Catherine Lord, Somer L Bishop
OBJECTIVE: Growing awareness that symptoms of autism spectrum disorder (ASD) transcend multiple diagnostic categories, and major advances in the identification of genetic syndromes associated with ASD, have led to widespread use of ASD symptom measures in etiologic studies of neurodevelopmental disorders. Insufficient consideration of potentially confounding factors such as cognitive ability or behavior problems can have important negative consequences in interpretation of findings, including erroneous estimation of associations between ASD and etiologic factors...
December 2016: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27870420/imaging-sex-gender-and-autism-in-the-brain-etiological-implications
#19
REVIEW
Meng-Chuan Lai, Jason P Lerch, Dorothea L Floris, Amber N V Ruigrok, Alexa Pohl, Michael V Lombardo, Simon Baron-Cohen
The male preponderance in autism prevalence has brought together the disparate topics of sex/gender and autism research. Two directions of neuroimaging studies on the relationships between sex/gender and autism may inform male-specific risk mechanisms and female-specific protective mechanisms of autism. First, we review how sex/gender moderates autism-related brain changes and how this informs general models of autism etiology. Better-powered human neuroimaging studies suggest that the brain characteristics of autism are qualitatively, rather than simply quantitatively, different between males and females...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27863250/histone-acetylome-wide-association-study-of-autism-spectrum-disorder
#20
Wenjie Sun, Jeremie Poschmann, Ricardo Cruz-Herrera Del Rosario, Neelroop N Parikshak, Hajira Shreen Hajan, Vibhor Kumar, Ramalakshmi Ramasamy, T Grant Belgard, Bavani Elanggovan, Chloe Chung Yi Wong, Jonathan Mill, Daniel H Geschwind, Shyam Prabhakar
The association of histone modification changes with autism spectrum disorder (ASD) has not been systematically examined. We conducted a histone acetylome-wide association study (HAWAS) by performing H3K27ac chromatin immunoprecipitation sequencing (ChIP-seq) on 257 postmortem samples from ASD and matched control brains. Despite etiological heterogeneity, ≥68% of syndromic and idiopathic ASD cases shared a common acetylome signature at >5,000 cis-regulatory elements in prefrontal and temporal cortex. Similarly, multiple genes associated with rare genetic mutations in ASD showed common "epimutations...
November 17, 2016: Cell
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