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Autism etiology

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https://www.readbyqxmd.com/read/29218394/modulation-of-sphingosine-1-phosphate-s1p-attenuates-spatial-learning-and-memory-impairments-in-the-valproic-acid-rat-model-of-autism
#1
Hongmei Wu, Quanzhi Zhang, Jingquan Gao, Caihong Sun, Jia Wang, Wei Xia, Yonggang Cao, Yanqiu Hao, Lijie Wu
RATIONALE: Autism spectrum disorders (ASD) are a set of pervasive neurodevelopmental disorders that manifest in early childhood, and it is growing up to be a major cause of disability in children. However, the etiology and treatment of ASD are not well understood. In our previous study, we found that serum levels of sphingosine 1-phosphate (S1P) were increased significantly in children with autism, indicating that S1P levels may be involved in ASD. OBJECTIVE: The objective of this study was to identify a link between increased levels of S1P and neurobehavioral changes in autism...
December 7, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/29214007/cytokine-levels-and-associations-with-symptom-severity-in-male-and-female-children-with-autism-spectrum-disorder
#2
Anne Masi, Edmond J Breen, Gail A Alvares, Nicholas Glozier, Ian B Hickie, Anna Hunt, Jennie Hui, John Beilby, David Ravine, John Wray, Andrew J O Whitehouse, Adam J Guastella
Background: Autism spectrum disorders (ASDs) are complex, pervasive, and heterogeneous neurodevelopmental conditions with varying trajectories, significant male bias and largely unknown etiology. However, an understanding of the biological mechanisms driving pathophysiology is evolving. Immune system aberrations, as identified through cytokine profiles, are believed to have a role in ASD. Altered cytokine levels may facilitate identification of ASD subtypes as well as provide biological markers of response to effective treatments...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29212874/the-na-k-h-exchanger-nhx1-controls-multivesicular-body-vacuolar-lysosome-fusion
#3
Mahmoud Abdul Karim, Christopher Leonard Brett
Loss-of-function mutations in human endosomal Na+(K+)/H+ Exchangers (NHEs) NHE6 and NHE9 are implicated in neurological disorders including Christianson Syndrome, autism and attention deficit and hyperactivity disorder (ADHD). These mutations disrupt retention of surface receptors within neurons and glial cells by affecting their delivery to lysosomes for degradation. However, the molecular basis of how these endosomal NHEs control endocytic trafficking is unclear. Using Saccharomyces cerevisiae as a model, we conducted cell-free organelle fusion assays to show that transport activity of the orthologous endosomal NHE Nhx1 is important for multivesicular body (MVB)-vacuolar lysosome fusion, the last step of endocytosis required for surface protein degradation...
December 6, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29201281/graph-theoretical-approaches-towards-understanding-differences-in-frontoparietal-and-default-mode-networks-in-autism
#4
Brandalyn C Riedel, Neda Jahanshad, Paul M Thompson
Autism Spectrum Disorder is a complex developmental disorder affecting 1 in 68 children in the United States. While the prevalence may be on the rise, we currently lack a firm understanding of the etiology of the disease, and diagnosis is made purely on behavioral observation and informant report. As one method to improve our understanding of the disease, the current study took a systems-level approach by assessing the causal interactions among the frontoparietal and default mode networks using structural covariance of a large Autism dataset...
2017: Proceedings of the IEEE International Symposium on Biomedical Imaging: from Nano to Macro
https://www.readbyqxmd.com/read/29197649/heritable-genotype-contrast-mining-reveals-novel-gene-associations-specific-to-autism-subgroups
#5
Matt Spencer, Nicole Takahashi, Sounak Chakraborty, Judith Miles, Chi-Ren Shyu
Though the genetic etiology of autism is complex, our understanding can be improved by identifying genes and gene-gene interactions that contribute to the development of specific autism subtypes. Identifying such gene groupings will allow individuals to be diagnosed and treated according to their precise characteristics. To this end, we developed a method to associate gene combinations with groups with shared autism traits, targeting genetic elements that distinguish patient populations with opposing phenotypes...
November 29, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29191242/copy-number-variation-meta-analysis-reveals-a-novel-duplication-at-9p24-associated-with-multiple-neurodevelopmental-disorders
#6
Joseph T Glessner, Jin Li, Dai Wang, Michael March, Leandro Lima, Akshatha Desai, Dexter Hadley, Charlly Kao, Raquel E Gur, Nadine Cohen, Patrick M A Sleiman, Qingqin Li, Hakon Hakonarson
BACKGROUND: Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim to identify shared structural variants spanning the spectrum of five neuropsychiatric disorders. METHODS: We investigated copy number variations (CNVs) in five cohorts, including schizophrenia (SCZ), bipolar disease (BD), autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and depression, from 7849 cases and 10,799 controls...
November 30, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29188587/focus-on-the-social-aspect-of-autism
#7
Joanna Kałużna-Czaplińska, Ewa Żurawicz, Jagoda Jóźwik-Pruska
Autism spectrum disorder (ASD) describes a set of neurodevelopmental disorders. Despite extensive ASD research lasting more than 60 years, its causes are still unknown. Without indicating the etiology, its development cannot be stopped. Over the years, both the definition and diagnostic criteria have developed. The number of ASD incidence is rising. The economical aspect should also be highlighted. This disorder presents particular challenges to affected children, their parents and physicians. The research of ASD, physician activities, policy making and raising the level of awareness must be coordinated...
November 29, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29174305/perinatal-hypothyroidism-increases-play-behaviors-in-juvenile-rats
#8
Spencer G Smith, Katharine V Northcutt
Thyroid hormones play an instrumental role in the development of the central nervous system. During early development, the fetus is dependent on maternal thyroid hormone production due to the dysfunction of its own thyroid gland. Thus, maternal thyroid dysfunction has been shown to elicit significant abnormalities in neural development, neurochemistry, and behavior in offspring. Previous reports have suggested that human maternal hypothyroidism may increase the chances of having children with autism spectrum disorder and attention-deficit/hyperactivity disorder...
November 21, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29170682/adaptive-skill-trajectories-in-infants-with-fragile-x-syndrome-contrasted-to-typical-controls-and-infants-at-high-risk-for-autism
#9
Kelly E Caravella, Jane E Roberts
Background: Adaptive behaviors are essential for optimal outcomes and independence in individuals with developmental disabilities. This study examined longitudinal trajectories of adaptive behavior in infants with fragile X syndrome (FXS), compared to typical development (TD) and infant siblings of children diagnosed with autism (ASIBs). Method: Participants included 76 male infants (FXS =25, ASIBs=27, TD = 24) assessed up to 4 times between 6 and 24 months of age for a total of 215 assessments of adaptive behavior...
August 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/29169997/psd95-a-synaptic-protein-implicated-in-schizophrenia-or-autism
#10
REVIEW
Austin A Coley, Wen-Jun Gao
The molecular components of the postsynaptic density (PSD) in excitatory synapses of the brain are currently being investigated as one of the major etiologies of neurodevelopmental disorders such as schizophrenia (SCZ) and autism. Postsynaptic density protein-95 (PSD-95) is a major regulator of synaptic maturation by interacting, stabilizing and trafficking N-methyl-d-aspartic acid receptors (NMDARs) and α-amino-3-hydroxy-5-methyl-4-isox-azoleproprionic acid receptors (AMPARs) to the postsynaptic membrane...
November 20, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29163124/the-search-for-an-effective-therapy-to-treat-fragile-x-syndrome-dream-or-reality
#11
REVIEW
Sara Castagnola, Barbara Bardoni, Thomas Maurin
Fragile X Syndrome (FXS) is the most common form of intellectual disability and a primary cause of autism. It originates from the lack of the Fragile X Mental Retardation Protein (FMRP), which is an RNA-binding protein encoded by the Fragile X Mental Retardation Gene 1 (FMR1) gene. Multiple roles have been attributed to this protein, ranging from RNA transport (from the nucleus to the cytoplasm, but also along neurites) to translational control of mRNAs. Over the last 20 years many studies have found a large number of FMRP mRNA targets, but it is still not clear which are those playing a critical role in the etiology of FXS...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29151244/identification-of-rare-noncoding-sequence-variants-in-gamma-aminobutyric-acid-a-receptor-alpha-4-subunit-in-autism-spectrum-disorder
#12
Anthony J Griswold, Derek Van Booven, Michael L Cuccaro, Jonathan L Haines, John R Gilbert, Margaret A Pericak-Vance
Alterations of the gamma-aminobutyric acid (GABA) signaling system has been strongly linked to the pathophysiology of autism spectrum disorder (ASD). Genetic associations of common variants in GABA receptor subunits, in particular GABRA4 on chromosome 4p12, with ASD have been replicated by several studies. Moreover, molecular investigations have identified altered transcriptional and translational levels of this gene and protein in brains of ASD individuals. Since the genotyped common variants are likely not the functional variants contributing to the molecular consequences or underlying ASD phenotype, this study aims to examine rare sequence variants in GABRA4, including those outside the protein coding regions of the gene...
November 18, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29150292/neonatal-and-regressive-forms-of-autism-diseases-with-similar-symptoms-but-a-different-etiology
#13
William E Barbeau
Autistic Spectrum Disorder (ASD) can be a debilitating, life-long neurocognitive disease. ASD is caused by genetic and epigenetic factors and largely unknown and poorly understood environmental triggers. Signs and symptoms of ASD often appear in the first year of life while the disease strikes other infants who had previously been developing normally at around 2years of age. Ozonoff and her colleagues recently suggested that there are three different pathways or trajectories for the development of ASD in infants 6-24months of age...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29150285/a-review-of-prevalence-studies-of-autism-spectrum-disorder-by-latitude-and-solar-irradiance-impact
#14
Somayya Syed, Kathleen A Moore, Evita March
Autism Spectrum Disorder (ASD) is a lifelong disability with no known cause or cure. Among the suggested etiologies, is Cannell's hypothesis of a deficiency in Vitamin D the main natural source of which is Solar Ultraviolet-B (UVB) radiation. The aim in this paper is to build on this hypothesis and explore the relationship of solar irradiance of which UVB is a component, by latitude with the prevalence rates of ASD. Twenty-five reports published between 2011 and 2016 using comparable diagnostic criteria were reviewed...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29137272/immunological-cytokine-profiling-identifies-tnf-%C3%AE-as-a-key-molecule-dysregulated-in-autistic-children
#15
Jiang Xie, Li Huang, Xiaohong Li, Hua Li, Yongmei Zhou, Hua Zhu, Tianying Pan, Keith M Kendrick, Wenming Xu
Recent studies have suggested that the etiology of autism spectrum disorder (ASD) may be caused by immunological factors, particularly abnormalities in the innate immune system. However, it is still unclear which specific cytokines may be of most importance. The current study therefore investigated which cytokines showed altered concentrations in blood in ASD compared with healthy control children and which were also correlated with symptom severity. Our study sample included 32 children diagnosed with ASD and 28 age and sex-matched typically developing children...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29129319/modeling-the-interplay-between-neurons-and-astrocytes-in-autism-using-human-induced-pluripotent-stem-cells
#16
Fabiele Baldino Russo, Beatriz Camille Freitas, Graciela Conceição Pignatari, Isabella Rodrigues Fernandes, Jonathan Sebat, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with unclear etiology and imprecise genetic causes. The main goal of this work was to investigate neuronal connectivity and the interplay between neurons and astrocytes from individuals with nonsyndromic ASD using induced pluripotent stem cells. METHODS: Induced pluripotent stem cells were derived from a clinically well-characterized cohort of three individuals with nonsyndromic ASD sharing common behaviors and three control subjects, two clones each...
October 3, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29128349/a-strategic-plan-to-identify-key-neurophysiological-mechanisms-and-brain-circuits-in-autism
#17
REVIEW
Frédérique Bonnet-Brilhault, Joëlle Malvy, Laurie Tuller, Philippe Prévost, Rasha Zebib, Sandrine Ferré, Christophe Dos Santos, Sylvie Roux, Emmanuelle Houy-Durand, Rémy Magné, Yassine Mofid, Marianne Latinus, Claire Wardak, Nadia Aguillon-Hernandez, Magali Batty, Marie Gomot
Autism and Autism Spectrum Disorder (ASD) cover a large variety of clinical profiles which share two main dimensions: social and communication impairment and repetitive behaviors or restricted interests, which are present during childhood. There is now no doubt that genetic factors are a major component in the etiology of autism but precise physiopathological pathways are still being investigated. Furthermore, developmental trajectories combined with compensatory mechanisms will lead to various clinical and neurophysiological profiles which together constitute this Autism Spectrum Disorder...
November 8, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/29118110/cellular-functions-of-the-autism-risk-factor-ptchd1-in-mice
#18
David Tora, Andrea M Gomez, Jean-Francois Michaud, Patricia T Yam, Frédéric Charron, Peter Scheiffele
The gene PTCHD1 is mutated in patients with autism spectrum disorders (ASD) and intellectual disabilities (ID) and has been hypothesized to contribute to Sonic hedgehog (Shh) signaling and synapse formation. We identify a panel of Ptchd1 interacting proteins that include postsynaptic density proteins and the retromer complex, revealing a link to critical regulators of dendritic and postsynaptic trafficking. Ptchd1 knock-out male mice exhibit cognitive alterations, including defects in a novel object recognition task...
November 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29112191/identifying-specific-prefrontal-neurons-that-contribute-to-autism-associated-abnormalities-in-physiology-and-social-behavior
#19
A C Brumback, I T Ellwood, C Kjaerby, J Iafrati, S Robinson, A T Lee, T Patel, S Nagaraj, F Davatolhagh, V S Sohal
Functional imaging and gene expression studies both implicate the medial prefrontal cortex (mPFC), particularly deep-layer projection neurons, as a potential locus for autism pathology. Here, we explored how specific deep-layer prefrontal neurons contribute to abnormal physiology and behavior in mouse models of autism. First, we find that across three etiologically distinct models-in utero valproic acid (VPA) exposure, CNTNAP2 knockout and FMR1 knockout-layer 5 subcortically projecting (SC) neurons consistently exhibit reduced input resistance and action potential firing...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29102779/sialic-acid-and-anti-ganglioside-antibody-levels-in-children-with-autism-spectrum-disorders
#20
Xiaolei Yang, Shuang Liang, Lin Wang, Panpan Han, Xitao Jiang, Jianli Wang, Yanqiu Hao, Lijie Wu
BACKGROUND: Autism spectrum disorders (ASD) may result from a combination of genetic and environmental factors, and impact neurological functions and behaviors. Sialic acid (SA) is an indispensable nutrient for early brain development, and its polymer polySia (PSA) can modify neural cell adhesion molecules (NCAM), thereby indirectly mediating neuronal outgrowth, synaptic connectivity and memory formation. To investigate the association between SA and ASD, we conducted a case-control study...
November 1, 2017: Brain Research
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