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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/28334131/pca-leverage-outlier-detection-for-high-dimensional-functional-magnetic-resonance-imaging-data
#2
Amanda F Mejia, Mary Beth Nebel, Ani Eloyan, Brian Caffo, Martin A Lindquist
Outlier detection for high-dimensional (HD) data is a popular topic in modern statistical research. However, one source of HD data that has received relatively little attention is functional magnetic resonance images (fMRI), which consists of hundreds of thousands of measurements sampled at hundreds of time points. At a time when the availability of fMRI data is rapidly growing-primarily through large, publicly available grassroots datasets-automated quality control and outlier detection methods are greatly needed...
February 27, 2017: Biostatistics
https://www.readbyqxmd.com/read/28334080/cortical-thickness-abnormalities-in-autism-spectrum-disorders-through-late-childhood-adolescence-and-adulthood-a-large-scale-mri-study
#3
Budhachandra S Khundrakpam, John D Lewis, Penelope Kostopoulos, Felix Carbonell, Alan C Evans
Neuroimaging studies in autism spectrum disorders (ASDs) have provided inconsistent evidence of cortical abnormality. This is probably due to the small sample sizes used in most studies, and important differences in sample characteristics, particularly age, as well as to the heterogeneity of the disorder. To address these issues, we assessed abnormalities in ASD within the Autism Brain Imaging Data Exchange data set, which comprises data from approximately 1100 individuals (~6-55 years). A subset of these data that met stringent quality control and inclusion criteria (560 male subjects; 266 ASD; age = 6-35 years) were used to compute age-specific differences in cortical thickness in ASD and the relationship of any such differences to symptom severity of ASD...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333493/bayesian-approaches-to-autism-towards-volatility-action-and-behavior
#4
Colin J Palmer, Rebecca P Lawson, Jakob Hohwy
Autism spectrum disorder currently lacks an explanation that bridges cognitive, computational, and neural domains. In the past 5 years, progress has been sought in this area by drawing on Bayesian probability theory to describe both social and nonsocial aspects of autism in terms of systematic differences in the processing of sensory information in the brain. The present article begins by synthesizing the existing literature in this regard, including an introduction to the topic for unfamiliar readers. The key proposal is that autism is characterized by a greater weighting of sensory information in updating probabilistic representations of the environment...
March 23, 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28332277/sequencing-of-sporadic-attention-deficit-hyperactivity-disorder-adhd-identifies-novel-and-potentially-pathogenic-de-novo-variants-and-excludes-overlap-with-genes-associated-with-autism-spectrum-disorder
#5
Daniel Seung Kim, Amber A Burt, Jane E Ranchalis, Beth Wilmot, Joshua D Smith, Karynne E Patterson, Bradley P Coe, Yatong K Li, Michael J Bamshad, Molly Nikolas, Evan E Eichler, James M Swanson, Joel T Nigg, Deborah A Nickerson, Gail P Jarvik
Attention-Deficit Hyperactivity Disorder (ADHD) has high heritability; however, studies of common variation account for <5% of ADHD variance. Using data from affected participants without a family history of ADHD, we sought to identify de novo variants that could account for sporadic ADHD. Considering a total of 128 families, two analyses were conducted in parallel: first, in 11 unaffected parent/affected proband trios (or quads with the addition of an unaffected sibling) we completed exome sequencing. Six de novo missense variants at highly conserved bases were identified and validated from four of the 11 families: the brain-expressed genes TBC1D9, DAGLA, QARS, CSMD2, TRPM2, and WDR83...
March 22, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28331572/environmental-risk-factors-for-autism-an-evidence-based-review-of-systematic-reviews-and-meta-analyses
#6
REVIEW
Amirhossein Modabbernia, Eva Velthorst, Abraham Reichenberg
BACKGROUND: According to recent evidence, up to 40-50% of variance in autism spectrum disorder (ASD) liability might be determined by environmental factors. In the present paper, we conducted a review of systematic reviews and meta-analyses of environmental risk factors for ASD. We assessed each review for quality of evidence and provided a brief overview of putative mechanisms of environmental risk factors for ASD. FINDINGS: Current evidence suggests that several environmental factors including vaccination, maternal smoking, thimerosal exposure, and most likely assisted reproductive technologies are unrelated to risk of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28329674/%C3%AE-arrestin2-couples-metabotropic-glutamate-receptor-5-to-neuronal-protein-synthesis-and-is-a-potential-target-to-treat-fragile-x
#7
Laura J Stoppel, Benjamin D Auerbach, Rebecca K Senter, Anthony R Preza, Robert J Lefkowitz, Mark F Bear
Synaptic protein synthesis is essential for modification of the brain by experience and is aberrant in several genetically defined disorders, notably fragile X (FX), a heritable cause of autism and intellectual disability. Neural activity directs local protein synthesis via activation of metabotropic glutamate receptor 5 (mGlu5), yet how mGlu5 couples to the intracellular signaling pathways that regulate mRNA translation is poorly understood. Here, we provide evidence that β-arrestin2 mediates mGlu5-stimulated protein synthesis in the hippocampus and show that genetic reduction of β-arrestin2 corrects aberrant synaptic plasticity and cognition in the Fmr1(-/y) mouse model of FX...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28326932/a-critical-role-of-spinal-shank2-proteins-in-nmda-induced-pain-hypersensitivity
#8
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/28326797/positive-and-negative-social-exchanges-experienced-by-fathers-and-mothers-of-children-with-autism
#9
Emily J Hickey, Lindsay Dubois, Sigan L Hartley
When faced with child-related challenges associated with autism spectrum disorder, positive and negative social exchanges may be critical to parents' psychological well-being. This study examined the types and sources of positive and negative social exchanges reported by mothers and fathers of children with autism spectrum disorder and their association with parental depressive symptoms in 176 families of children (5-12 years; 85% male) with autism spectrum disorder. One-way repeated measure multivariate analyses of variance and multilevel modeling were used...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28326792/-i-was-just-so-different-the-experiences-of-women-diagnosed-with-an-autism-spectrum-disorder-in-adulthood-in-relation-to-gender-and-social-relationships
#10
Lucie Kanfiszer, Fran Davies, Suzanne Collins
Existing literature exploring autism spectrum disorders within female populations predominantly utilises quantitative methodology. A limited number of small-scale, qualitative studies have explored the experiences of adolescent girls with autism spectrum disorder, but adult women have remained largely unheard. This study aims to broaden the stories told within autobiographical literature and empower those within the wider community of women with autism spectrum disorder. In doing so, it seeks to extend existing conceptualisations of experience to include socially and culturally located factors...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28326463/relationship-between-selenium-lead-and-mercury-in-red-blood-cells-of-saudi-autistic-children
#11
Afaf El-Ansary, Geir Bjørklund, Alexey A Tinkov, Anatoly V Skalny, Hussain Al Dera
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can cause significant social, communication and behavioral challenges. Environmental contribution to ASD is due in large part to the sensitivity of the developing brain to external exposures such as lead (Pb), and mercury (Hg) as toxic heavy metals or due to a poor detoxification ability as the phenotype of this disorder. Selenium (Se) as an antioxidant element that counteracts the neurotoxicity of Hg, and Pb, presumably through the formation of nontoxic complexes...
March 21, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28326054/dynamical-constants-and-time-universals-a-first-step-toward-a-metrical-definition-of-ordered-and-abnormal-cognition
#12
REVIEW
Mark A Elliott, Naomi du Bois
From the point of view of the cognitive dynamicist the organization of brain circuitry into assemblies defined by their synchrony at particular (and precise) oscillation frequencies is important for the correct correlation of all independent cortical responses to the different aspects of a given complex thought or object. From the point of view of anyone operating complex mechanical systems, i.e., those comprising independent components that are required to interact precisely in time, it follows that the precise timing of such a system is essential - not only essential but measurable, and scalable...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28325617/human-genetics-and-sleep-behavior
#13
REVIEW
Guangsen Shi, David Wu, Louis J Ptáček, Ying-Hui Fu
Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns...
March 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28325448/diagnosis-of-autism-through-eeg-processed-by-advanced-computational-algorithms-a-pilot-study
#14
Enzo Grossi, Chiara Olivieri, Massimo Buscema
BACKGROUND: Multi-Scale Ranked Organizing Map coupled with Implicit Function as Squashing Time algorithm(MS-ROM/I-FAST) is a new, complex system based on Artificial Neural networks (ANNs) able to extract features of interest in computerized EEG through the analysis of few minutes of their EEG without any preliminary pre-processing. A proof of concept study previously published showed accuracy values ranging from 94%-98% in discerning subjects with Mild Cognitive Impairment and/or Alzheimer's Disease from healthy elderly people...
April 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28324861/behavioral-improvements-in-a-valproic-acid-rat-model-of-autism-following-vitamin-d-supplementation
#15
Lin Du, Guolian Zhao, Zipeng Duan, Fan Li
The aim was to identify the effects of early vitamin D supplementation on autism-like behaviors (ASD) induced by valproic acid (VPA, an anti-convulsant and a mood stabilizer) in rats. 10 male Wistar rat pups with prenatal exposure to saline were in control group, and 20 Pups with prenatal exposure to VPA were divided into ASD-N (0.9% saline treated) and ASD-D group (vitamin D 80,000 IU/kg treated) on postnatal day 12. Self-grooming, olfactory habituation/dishabituation, and social interaction tests were conducted to assess social interaction, communication, and repetitive behaviors...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28323282/an-autism-associated-serotonin-transporter-variant-disrupts-multisensory-processing
#16
J K Siemann, C L Muller, C G Forsberg, R D Blakely, J Veenstra-VanderWeele, M T Wallace
Altered sensory processing is observed in many children with autism spectrum disorder (ASD), with growing evidence that these impairments extend to the integration of information across the different senses (that is, multisensory function). The serotonin system has an important role in sensory development and function, and alterations of serotonergic signaling have been suggested to have a role in ASD. A gain-of-function coding variant in the serotonin transporter (SERT) associates with sensory aversion in humans, and when expressed in mice produces traits associated with ASD, including disruptions in social and communicative function and repetitive behaviors...
March 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28322650/parental-feeding-behaviors-and-weight-related-concerns-in-children-with-special-needs
#17
Michele Polfuss, Pippa Simpson, Rachel Neff Greenley, Liyun Zhang, Kathleen J Sawin
Parental feeding behaviors and concern about child weight are associated with obesity among youth who are typically developing. Little is known about this relationship among parents of youth with special needs, despite these children having higher obesity risk. This study used an online survey to explore associations among parental feeding behaviors, parent weight concerns, demographics, and child weight status in a sample of 356 parents of children diagnosed with autism spectrum disorder, spina bifida, and Down syndrome...
January 1, 2017: Western Journal of Nursing Research
https://www.readbyqxmd.com/read/28321863/autistic-phenomena-in-the-adventures-of-pinocchio
#18
Adrian Smith
This paper seeks to demonstrate that the protagonist of Carlo Collodi's The Adventures of Pinocchio illustrates numerous autistic phenomena such as communication difficulties, sensory and perceptual distortions and mindblindness. While Pinocchio is viewed as a literary construct with contraindications of autism, it will be argued that his autistic traits are sufficient to suggest the possibility that Collodi had a partial intuition of the syndrome 60 years before it was identified by Leo Kanner. Approaching Collodi's text in this manner is taken as an opportunity to survey and reflect upon the psychoanalytic literature on autism and to position it in relation to contemporary theories from cognitive neuroscience...
April 2017: Journal of Analytical Psychology
https://www.readbyqxmd.com/read/28319657/risk-of-autism-spectrum-disorders-in-children-born-to-mothers-with-rheumatoid-arthritis-a-systematic-literature-review
#19
Sophie Wojcik, Sasha Bernatsky, Robert W Platt, Christian A Pineau, Ann E Clarke, Éric Fombonne, Anick Bérard, Évelyne Vinet
OBJECTIVE: Recent evidence suggests in utero exposure to maternal antibodies and cytokines as important risk factors for autism spectrum disorders (ASD). We aimed to systematically review the risk of ASD in children born to mothers with rheumatoid arthritis (RA) compared to children born to mothers without RA. METHODS: We conducted a systematic review of original articles using electronic databases: PubMed, EMBase, and Web of Science. RESULTS: Our literature search identified a total of 70 articles...
March 20, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28319204/responses-to-others-pain-in-adults-with-autistic-traits-the-influence-of-gender-and-stimuli-modality
#20
Jing Meng, Zuoshan Li, Lin Shen
Individuals with autism-spectrum disorder (ASD) exhibit impairments in response to others' pain. Evidence suggests that features of autism are not restricted to individuals with ASD, and that autistic traits vary throughout the general population. To investigate the association between autistic traits and the responses to others' pain in typically developing adults, we employed the Autism-Spectrum Quotient (AQ) to quantify autistic traits in a group of 1670 healthy adults and explored whether 60 participants (30 males and 30 females) with 10% highest AQ scores (High-AQ) would exhibit difficulties in the responses to others' pain relative to 60 participants (30 males and 30 females) with 10% lowest AQ scores (Low-AQ)...
2017: PloS One
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