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Autism etiology

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https://www.readbyqxmd.com/read/29626339/using-pattern-classification-to-identify-brain-imaging-markers-in-autism-spectrum-disorder
#1
Derek Sayre Andrews, Andre Marquand, Christine Ecker, Grainne McAlonan
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social interaction and communication, as well as repetitive and restrictive behaviours. The etiological and phenotypic complexity of ASD has so far hindered the development of clinically useful biomarkers for the condition. Neuroimaging studies have been valuable in establishing a biological basis for ASD. Increasingly, neuroimaging has been combined with 'machine learning'-based pattern classification methods to make individual diagnostic predictions...
April 7, 2018: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/29614380/serotonin-as-a-link-between-the-gut-brain-microbiome-axis-in-autism-spectrum-disorders
#2
REVIEW
Narek Israelyan, Kara Gross Margolis
Autism-spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and repetitive patterns of behavior. ASD is, however, often associated with medical comorbidities and gastrointestinal (GI) dysfunction is among the most common. Studies have demonstrated a correlation between GI dysfunction and the degree of social impairment in ASD. The etiology of GI abnormalities in ASD is unclear, though the association between GI dysfunction and ASD-associated behaviors suggest that overlapping developmental defects in the brain and the intestine and/or a defect in communication between the enteric and central nervous systems (ENS and CNS, respectively), known as the gut-brain axis, could be responsible for the observed phenotypes...
March 31, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29609622/16p11-2-microdeletion-syndrome-a-case-report
#3
D Dell'Edera, C Dilucca, A Allegretti, F Simone, M G Lupo, C Liccese, R Davanzo
BACKGROUND: The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION: Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents' DNA were analyzed by comparative genomic hybridization-array platform...
April 3, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29607791/attention-deficit-hyperactivity-disorder-and-risk-for-psychiatric-and-neurodevelopmental-disorders-in-siblings
#4
Elina Jokiranta-Olkoniemi, Keely Cheslack-Postava, Petteri Joelsson, Auli Suominen, Alan S Brown, Andre Sourander
BACKGROUND: Probands with attention-deficit/hyperactivity disorder (ADHD) are at increased risk for several psychiatric and neurodevelopmental disorders. The risk of these disorders among the siblings of probands has not been thoroughly assessed in a population-based cohort. METHODS: Every child born in Finland in 1991-2005 and diagnosed with ADHD in 1995-2011 were identified from national registers. Each case was matched with four controls on sex, place, and date of birth...
April 2, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29606903/mosaic-brain-aneuploidy-in-mental-illnesses-an-association-of-low-level-post-zygotic-aneuploidy-with-schizophrenia-and-comorbid-psychiatric-disorders
#5
REVIEW
Yuri B Yurov, Svetlana G Vorsanova, Irina A Demidova, Alexei D Kolotii, Ilia V Soloviev, Ivan Y Iourov
Background: Postzygotic chromosomal variation in neuronal cells is hypothesized to make a substantial contribution to the etiology and pathogenesis of neuropsychiatric disorders. However, the role of somatic genome instability and mosaic genome variations in common mental illnesses is a matter of conjecture. Materials and Methods: To estimate the pathogenic burden of somatic chromosomal mutations, we determined the frequency of mosaic aneuploidy in autopsy brain tissues of subjects with schizophrenia and other psychiatric disorders (intellectual disability comorbid with autism spectrum disorders)...
April 2018: Current Genomics
https://www.readbyqxmd.com/read/29603654/click-evoked-auditory-brainstem-responses-and-autism-spectrum-disorder-a-meta-analytic-review
#6
Nicole M Talge, Brooke M Tudor, Paul R Kileny
Behavior does not differentiate ASD risk prior to 12 months of age, but biomarkers may inform risk before symptoms emerge. Click-evoked auditory brainstem responses (ABRs) may be worth consideration due to their measurement properties (noninvasiveness; reliability) and conceptual features (well-characterized neural generators), but participant characteristics and assessment protocols vary considerably across studies. Our goal is to perform a meta-analysis of the association between ABRs and ASD. Following an electronic database search (PubMed, Medline, PsycInfo, PsycArticles), we included papers that were written in English, included ASD and typically-developing (TD) groups, and reported the information needed to calculate standardized mean differences (Hedges's g) for at least one ABR latency component (I, III, V, I-III, III-V, I-V)...
March 30, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29602155/cytokine-profile-in-autistic-patients
#7
Mohammad Mahdi Eftekharian, Soudeh Ghafouri-Fard, Rezvan Noroozi, Mir Davood Omrani, Shahram Arsang-Jang, Maziar Ganji, Vajiheh Gharzi, Hanieh Noroozi, Alireza Komaki, Mehrdokht Mazdeh, Mohammad Taheri
The etiology of Autism Spectrum Disorders (ASDs) as severe neurodevelopmental ailments is not known. However, several evidences point to dysregulation of immune system as an underlying cause of ASD. In the present study we evaluated the mRNA expression levels of TNF-α, TGF-β, IFN-γ, CXCL8, IL-1β, IL-2, 1L-4, IL-6, IL-17 in whole blood samples of 30 ASD patients and 41 age and sex-matched healthy subjects with means of real-time PCR. TNF-α, IL-6 and IL-17 have been shown to be significantly up-regulated in ASD patients compared with healthy subjects (P < 0...
March 27, 2018: Cytokine
https://www.readbyqxmd.com/read/29587883/elevated-polygenic-burden-for-autism-is-associated-with-differential-dna-methylation-at-birth
#8
Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, Jakob Grove, Christine Søholm Hansen, Shan V Andrews, David Michael Hougaard, Michaeline Bresnahan, Ole Mors, Mads Vilhelm Hollegaard, Marie Bækvad-Hansen, Mady Hornig, Preben Bo Mortensen, Anders D Børglum, Thomas Werge, Marianne Giørtz Pedersen, Merete Nordentoft, Joseph Buxbaum, M Daniele Fallin, Jonas Bybjerg-Grauholm, Abraham Reichenberg, Jonathan Mill
BACKGROUND: Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both inherited and environmental risk factors, with epigenetic processes hypothesized as one mechanism by which both genetic and non-genetic variation influence gene regulation and pathogenesis. The aim of this study was to identify DNA methylation biomarkers of ASD detectable at birth...
March 28, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29581796/polymorphisms-in-vitamin-d-receptor-genes-in-association-with-childhood-autism-spectrum-disorder
#9
Zengyu Zhang, Sufang Li, Lianfang Yu, Jun Liu
Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells...
2018: Disease Markers
https://www.readbyqxmd.com/read/29581270/kv4-2-autism-and-epilepsy-mutation-enhances-inactivation-of-closed-channels-but-impairs-access-to-inactivated-state-after-opening
#10
Meng-Chin A Lin, Stephen C Cannon, Diane M Papazian
A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K+ channel, was identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4.2 channels undergo closed-state inactivation (CSI), a mechanism by which channels inactivate without opening during subthreshold depolarizations. CSI dynamically modulates neuronal excitability and action potential back propagation in response to excitatory synaptic input, controlling Ca2+ influx into dendrites and regulating spike timing-dependent plasticity...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29580901/species-conserved-syngap1-phenotypes-associated-with-neurodevelopmental-disorders
#11
REVIEW
Murat Kilinc, Thomas Creson, Camilo Rojas, Massimiliano Aceti, Jacob Ellegood, Thomas Vaissiere, Jason P Lerch, Gavin Rumbaugh
SYNGAP1 loss-of-function variants are causally associated with intellectual disability, severe epilepsy, autism spectrum disorder and schizophrenia. While there are hundreds of genetic risk factors for neurodevelopmental disorders (NDDs), this gene is somewhat unique because of the frequency and penetrance of loss-of-function variants found in patients combined with the range of brain disorders associated with SYNGAP1 pathogenicity. These clinical findings indicate that SYNGAP1 regulates fundamental neurodevelopmental processes that are necessary for brain development...
March 23, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29578363/high-prevalence-of-serum-folate-receptor-autoantibodies-in-children-with-autism-spectrum-disorders
#12
Jiaxiu Zhou, Aiping Liu, Fusheng He, Ya Jin, Shaoming Zhou, Ruihuan Xu, Hailiang Guo, Wenhao Zhou, Mingbang Wang, Qiufen Wei
BACKGROUND: Supplementation of folic acid by pregnant mothers is thought to lower the risk of autism spectrum disorders (ASDs) in the offspring. Folic acid is taken up by cells via receptors with high affinity for folate and reduced folic acid derivatives. However, this is blocked by the presence of folate receptor autoantibodies (FRAA). Cerebral FRAA have been detected with high frequency in children with ASDs, suggesting the existence of a link between folic acid uptake and disease etiology...
March 26, 2018: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/29575155/atypical-audiovisual-temporal-function-in-autism-and-schizophrenia-similar-phenotype-different-cause
#13
Jean-Paul Noel, Ryan A Stevenson, Mark T Wallace
Binding across sensory modalities yields substantial perceptual benefits, including enhanced speech intelligibility. The coincidence of sensory inputs across time is a fundamental cue for this integration process. Recent work has suggested that individuals with diagnoses of Schizophrenia (SZ) and Autism Spectrum Disorder (ASD) will characterize auditory and visual events as synchronous over larger temporal disparities than their neurotypical counterparts. Namely, these clinical populations possess an enlarged temporal binding window (TBW)...
March 25, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29574884/progress-in-the-genetics-of-autism-spectrum-disorder
#14
REVIEW
Marc Woodbury-Smith, Stephen W Scherer
A genetic basis for autism spectrum disorder (ASD) is now well established, and with the availability of high-throughput microarray and sequencing platforms, major advances have been made in our understanding of genetic risk factors. Rare, often de novo, copy number and single nucleotide variants are both implicated, with many ASD-implicated genes showing pleiotropy and variable penetrance. Additionally, common variants are also known to play a role in ASD's genetic etiology. These new insights into the architecture of ASD's genetic etiology offer opportunities for the identification of molecular targets for novel interventions, and provide new insight for families seeking genetic counselling...
March 25, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29573218/understanding-environmental-contributions-to-autism-causal-concepts-and-the-state-of-science
#15
REVIEW
Irva Hertz-Picciotto, Rebecca J Schmidt, Paula Krakowiak
The complexity of neurodevelopment, the rapidity of early neurogenesis, and over 100 years of research identifying environmental influences on neurodevelopment serve as backdrop to understanding factors that influence risk and severity of autism spectrum disorder (ASD). This Keynote Lecture, delivered at the May 2016 annual meeting of the International Society for Autism Research, describes concepts of causation, outlines the trajectory of research on nongenetic factors beginning in the 1960s, and briefly reviews the current state of this science...
March 23, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29570782/childhood-neurodevelopmental-disorders-and-risk-of-coercive-sexual-victimization-in-childhood-and-adolescence-a-population-based-prospective-twin-study
#16
Vide Ohlsson Gotby, Paul Lichtenstein, Niklas Långström, Erik Pettersson
BACKGROUND: Autism spectrum disorder (ASD), Attention-deficit/Hyperactivity disorder (ADHD), and other related neurodevelopmental disorders (NDDs) have, in some previous studies, been shown to increase the risk of being sexually victimized. However, no studies have examined whether the association is driven by a general NDD phenotype versus specific diagnoses, nor the etiology of the association. METHOD: Using a genetically informative, prospective design, we examined the association between ASD and ADHD in childhood and coercive sexual victimization up to age 18...
March 23, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29569150/impaired-lipid-metabolism-markers-to-assess-the-risk-of-neuroinflammation-in-autism-spectrum-disorder
#17
Hanan Qasem, Laila Al-Ayadhi, Geir Bjørklund, Salvatore Chirumbolo, Afaf El-Ansary
Autism spectrum disorder (ASD) is a multifactorial disorder caused by an interaction between environmental risk factors and a genetic background. It is characterized by impairment in communication, social interaction, repetitive behavior, and sensory processing. The etiology of ASD is still not fully understood, and the role of neuroinflammation in autism behaviors needs to be further investigated. The aim of the present study was to test the possible association between prostaglandin E2 (PGE2), cyclooxygenase-2 (COX-2), microsomal prostaglandin E synthase-1 (mPGES-1), prostaglandin PGE2 EP2 receptors and nuclear kappa B (NF-κB) and the severity of cognitive disorders, social impairment, and sensory dysfunction...
March 22, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29564487/gut-microbial-dysbiosis-in-indian-children-with-autism-spectrum-disorders
#18
Joby Pulikkan, Abhijit Maji, Darshan Bharat Dhakan, Rituja Saxena, Binoop Mohan, Milu Maria Anto, Neeti Agarwal, Tony Grace, Vineet K Sharma
Autism spectrum disorder (ASD) is a term associated with a group of neurodevelopmental disorders. The etiology of ASD is not yet completely understood; however, a disorder in the gut-brain axis is emerging as a prominent factor leading to autism. To identify the taxonomic composition and markers associated with ASD, we compared the fecal microbiota of 30 ASD children diagnosed using Childhood Autism Rating Scale (CARS) score, DSM-5 approved AIIMS-modified INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD), and Indian Scale for Assessment of Autism (ISAA) tool, with family-matched 24 healthy children from Indian population using next-generation sequencing (NGS) of 16S rRNA gene amplicon...
March 21, 2018: Microbial Ecology
https://www.readbyqxmd.com/read/29562607/a-cohort-study-comparing-women-with-autism-spectrum-disorder-with-and-without-generalized-joint-hypermobility
#19
Emily L Casanova, Julia L Sharp, Stephen M Edelson, Desmond P Kelly, Manuel F Casanova
Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey...
March 17, 2018: Behavioral Sciences
https://www.readbyqxmd.com/read/29559554/neuropsychiatric-disease-associated-genetic-variants-of-the-dopamine-transporter-display-heterogeneous-molecular-phenotypes
#20
Freja Herborg, Thorvald F Andreassen, Frida Berlin, Claus J Loland, Ulrik Gether
Genetic factors are known to significantly contribute to the etiology of psychiatric diseases such as attention deficit hyperactivity disorder (ADHD) and autism spectrum and bipolar disorders, but the underlying molecular processes remain largely elusive. The dopamine transporter (DAT) has received continuous attention as a potential risk factor for psychiatric disease, as it is critical for dopamine homeostasis and serves as principal target for ADHD medications. Constrain metrics for the DAT-encoding gene solute carrier family 6 member 3 (SLC6A3) indicate that missense mutations are under strong negative selection, pointing to pathophysiological outcomes when DAT function is compromised...
March 20, 2018: Journal of Biological Chemistry
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