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https://www.readbyqxmd.com/read/29145823/dbmdega-a-database-for-meta-analysis-of-differentially-expressed-genes-in-autism-spectrum-disorder
#1
Shuyun Zhang, Libin Deng, Qiyue Jia, Shaoting Huang, Junwang Gu, Fankun Zhou, Meng Gao, Xinyi Sun, Chang Feng, Guangqin Fan
BACKGROUND: Autism spectrum disorders (ASD) are hereditary, heterogeneous and biologically complex neurodevelopmental disorders. Individual studies on gene expression in ASD cannot provide clear consensus conclusions. Therefore, a systematic review to synthesize the current findings from brain tissues and a search tool to share the meta-analysis results are urgently needed. METHODS: Here, we conducted a meta-analysis of brain gene expression profiles in the current reported human ASD expression datasets (with 84 frozen male cortex samples, 17 female cortex samples, 32 cerebellum samples and 4 formalin fixed samples) and knock-out mouse ASD model expression datasets (with 80 collective brain samples)...
November 16, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29104944/psychotropic-medication-use-in-autism-spectrum-disorders-may-affect-functional-brain-connectivity
#2
Annika C Linke, Lindsay Olson, Yangfeifei Gao, Inna Fishman, Ralph-Axel Müller
Background: Prescription of psychotropic medications is common in autism spectrum disorders (ASDs), either off-label or to treat comorbid conditions such as ADHD or depression. Psychotropic medications are intended to alter brain function. Yet, studies investigating the functional brain organization in ASDs rarely take medication usage into account. This could explain some of the inconsistent findings of atypical brain network connectivity reported in the autism literature. Methods: The current study tested whether functional connectivity patterns, as assessed with functional magnetic resonance imaging (fMRI), differed in a cohort of 49 children and adolescents with ASDs based on psychotropic medication status, and in comparison with 50 matched typically developing (TD) participants...
September 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29079524/whole-brain-white-matter-connectivity-analysis-using-machine-learning-an-application-to-autism
#3
Fan Zhang, Peter Savadjiev, Weidong Cai, Yang Song, Yogesh Rathi, Birkan Tunç, Drew Parker, Tina Kapur, Robert T Schultz, Nikos Makris, Ragini Verma, Lauren J O'Donnell
In this paper, we propose an automated white matter connectivity analysis method for machine learning classification and characterization of white matter abnormality via identification of discriminative fiber tracts. The proposed method uses diffusion MRI tractography and a data-driven approach to find fiber clusters corresponding to subdivisions of the white matter anatomy. Features extracted from each fiber cluster describe its diffusion properties and are used for machine learning. The method is demonstrated by application to a pediatric neuroimaging dataset from 149 individuals, including 70 children with autism spectrum disorder (ASD) and 79 typically developing controls (TDC)...
October 25, 2017: NeuroImage
https://www.readbyqxmd.com/read/28931838/cerebellar-anatomical-alterations-and-attention-to-eyes-in-autism
#4
Charles Laidi, Jennifer Boisgontier, M Mallar Chakravarty, Sevan Hotier, Marc-Antoine d'Albis, Jean-Franc Ois Mangin, Gabriel A Devenyi, Richard Delorme, Federico Bolognani, Christian Czech, Céline Bouquet, Elie Toledano, Manuel Bouvard, Doriane Gras, Julie Petit, Marina Mishchenko, Alexandru Gaman, Isabelle Scheid, Marion Leboyer, Tiziana Zalla, Josselin Houenou
The cerebellum is implicated in social cognition and is likely to be involved in the pathophysiology of autism spectrum disorder (ASD). The goal of our study was to explore cerebellar morphology in adults with ASD and its relationship to eye contact, as measured by fixation time allocated on the eye region using an eye-tracking device. Two-hundred ninety-four subjects with ASD and controls were included in our study and underwent a structural magnetic resonance imaging scan. Global segmentation and cortical parcellation of the cerebellum were performed...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28871217/diagnosing-autism-spectrum-disorder-from-brain-resting-state-functional-connectivity-patterns-using-a-deep-neural-network-with-a-novel-feature-selection-method
#5
Xinyu Guo, Kelli C Dominick, Ali A Minai, Hailong Li, Craig A Erickson, Long J Lu
The whole-brain functional connectivity (FC) pattern obtained from resting-state functional magnetic resonance imaging data are commonly applied to study neuropsychiatric conditions such as autism spectrum disorder (ASD) by using different machine learning models. Recent studies indicate that both hyper- and hypo- aberrant ASD-associated FCs were widely distributed throughout the entire brain rather than only in some specific brain regions. Deep neural networks (DNN) with multiple hidden layers have shown the ability to systematically extract lower-to-higher level information from high dimensional data across a series of neural hidden layers, significantly improving classification accuracy for such data...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28803955/valproic-acid-exposure-decreases-the-mrna-stability-of-bcl-2-via-up-regulating-mir-34a-in-the-cerebellum-of-rat
#6
Xufang Dai, Yunhou Yin, Liyan Qin
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, limited verbal communication and repetitive behaviors. Previous studies have shown that the level of Bcl-2 in the brain tissues of ASD patients is significantly decreased. However, the mechanisms underlie the down-regulation of Bcl-2 in ASD is still unknown. In this study, we investigated the alteration of Bcl-2 level and associated mechanisms in valproic acid (VPA) exposed ASD rats. VPA exposure resulted in ASD-like behaviors in rats, such as repetitive behavior and social interaction impairment...
August 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28744969/abnormal-functional-activation-and-maturation-of-ventromedial-prefrontal-cortex-and-cerebellum-during-temporal-discounting-in-autism-spectrum-disorder
#7
Clodagh M Murphy, Anastasia Christakou, Vincent Giampietro, Michael Brammer, Eileen M Daly, Christine Ecker, Patrick Johnston, Debbie Spain, Dene M Robertson, Declan G Murphy, Katya Rubia
People with autism spectrum disorder (ASD) have poor decision-making and temporal foresight. This may adversely impact on their everyday life, mental health, and productivity. However, the neural substrates underlying poor choice behavior in people with ASD, or its' neurofunctional development from childhood to adulthood, are unknown. Despite evidence of atypical structural brain development in ASD, investigation of functional brain maturation in people with ASD is lacking. This cross-sectional developmental fMRI study investigated the neural substrates underlying performance on a temporal discounting (TD) task in 38 healthy (11-35 years old) male adolescents and adults with ASD and 40 age, sex, and IQ-matched typically developing healthy controls...
July 26, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28707805/decreased-parvalbumin-mrna-levels-in-cerebellar-purkinje-cells-in-autism
#8
Jean-Jacques Soghomonian, Kunzhong Zhang, Sujithra Reprakash, Gene J Blatt
Recent neuropathology studies in human brains indicate that several areas of the prefrontal cortex have decreased numbers of parvalbumin interneurons or decreased parvalbumin expression in Autism Spectrum disorders (ASD) [Hashemi, Ariza, Rogers, Noctor, & Martinez-Cerdeno, 2017; Zikopoulos & Barbas, ]. These data suggest that a deficit in parvalbumin may be a key neuropathology of ASD and contribute to altered GABAergic inhibition. However, it is unclear if a deficit in parvalbumin is a phenomenon that occurs in regions other than the cerebral cortex...
July 14, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28608249/retinoic-acid-related-orphan-receptor-alpha-rora-variants-are-associated-with-autism-spectrum-disorder
#9
Arezou Sayad, Rezvan Noroozi, Mir Davood Omrani, Mohammad Taheri, Soudeh Ghafouri-Fard
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with various epidemiologic, genetic, epigenetic, and environmental factors being associated with it. The observed sex bias in ASD towards male has prompted investigators to propose sex-dependent mechanisms for ASD. Retinoic acid-related orphan receptor-alpha (RORA) is a new autism candidate gene that has been shown to be differentially regulated by male and female hormones. Previous studies have shown deregulation of its expression in the prefrontal cortex and the cerebellum of ASD patients...
June 12, 2017: Metabolic Brain Disease
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...
October 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28551753/cerebellar-and-striatal-pathologies-in-mouse-models-of-autism-spectrum-disorder
#11
Saša Peter, Chris I De Zeeuw, Tobias M Boeckers, Michael J Schmeisser
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component. To date, several hundred different genetic mutations have been identified to play a role in its aetiology. The heterogeneity of genetic abnormalities combined with the different brain regions where aberrations are found makes the search for causative mechanisms a daunting task. Even within a limited number of brain regions, a myriad of different neural circuit dysfunctions may lead to ASD. Here, we review mouse models that incorporate mutations of ASD risk genes causing pathologies in the cerebellum and striatum and highlight the vulnerability of related circuit dysfunctions within these brain regions in ASD pathophysiology...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28436342/comparison-of-neural-substrates-of-temporal-discounting-between-youth-with-autism-spectrum-disorder-and-with-obsessive-compulsive-disorder
#12
C O Carlisi, L Norman, C M Murphy, A Christakou, K Chantiluke, V Giampietro, A Simmons, M Brammer, D G Murphy, D Mataix-Cols, K Rubia
BACKGROUND: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) share abnormalities in hot executive functions such as reward-based decision-making, as measured in the temporal discounting task (TD). No studies, however, have directly compared these disorders to investigate common/distinct neural profiles underlying such abnormalities. We wanted to test whether reward-based decision-making is a shared transdiagnostic feature of both disorders with similar neurofunctional substrates or whether it is a shared phenotype with disorder-differential neurofunctional underpinnings...
April 24, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28420309/a-proton-magnetic-resonance-spectroscopic-study-in-autism-spectrum-disorder-using-a-3-tesla-clinical-magnetic-resonance-imaging-mri-system-the-anterior-cingulate-cortex-and-the-left-cerebellum
#13
Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Aya Goji, Yoko Abe, Masahito Miyazaki, Shoji Kagami
The pathophysiology of autism spectrum disorder (ASD) is not fully understood. We used proton magnetic resonance spectroscopy to investigate metabolite concentration ratios in the anterior cingulate cortex and left cerebellum in ASD. In the ACC and left cerebellum studies, the ASD group and intelligence quotient- and age-matched control group consisted of 112 and 114 subjects and 65 and 45 subjects, respectively. In the ASD group, γ-aminobutyric acid (GABA)+/ creatine/phosphocreatine (Cr) was significantly decreased in the anterior cingulate cortex, and glutamate (Glu)/Cr was significantly increased and GABA+/Cr was significantly decreased in the left cerebellum compared to those in the control group...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28392909/neurogenetic-analysis-of-childhood-disintegrative-disorder
#14
Abha R Gupta, Alexander Westphal, Daniel Y J Yang, Catherine A W Sullivan, Jeffrey Eilbott, Samir Zaidi, Avery Voos, Brent C Vander Wyk, Pam Ventola, Zainulabedin Waqar, Thomas V Fernandez, A Gulhan Ercan-Sencicek, Michael F Walker, Murim Choi, Allison Schneider, Tammy Hedderly, Gillian Baird, Hannah Friedman, Cara Cordeaux, Alexandra Ristow, Frederick Shic, Fred R Volkmar, Kevin A Pelphrey
BACKGROUND: Childhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences. METHODS: We pursued a multidisciplinary study of CDD (n = 17) and three comparison groups: low-functioning ASD (n = 12), high-functioning ASD (n = 50), and typically developing (n = 26) individuals...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28271437/cellular-and-circuitry-bases-of-autism-lessons-learned-from-the-temporospatial-manipulation-of-autism-genes-in-the-brain
#15
REVIEW
Samuel W Hulbert, Yong-Hui Jiang
Transgenic mice carrying mutations that cause Autism Spectrum Disorders (ASDs) continue to be valuable for determining the molecular underpinnings of the disorders. Recently, researchers have taken advantage of such models combined with Cre-loxP and similar systems to manipulate gene expression over space and time. Thus, a clearer picture is starting to emerge of the cell types, circuits, brain regions, and developmental time periods underlying ASDs. ASD-causing mutations have been restricted to or rescued specifically in excitatory or inhibitory neurons, different neurotransmitter systems, and cells specific to the forebrain or cerebellum...
April 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28249166/varying-intolerance-of-gene-pathways-to-mutational-classes-explain-genetic-convergence-across-neuropsychiatric-disorders
#16
Shahar Shohat, Eyal Ben-David, Sagiv Shifman
Genetic susceptibility to intellectual disability (ID), autism spectrum disorder (ASD), and schizophrenia (SCZ) often arises from mutations in the same genes, suggesting that they share common mechanisms. We studied genes with de novo mutations in the three disorders and genes implicated in SCZ by genome-wide association study (GWAS). Using biological annotations and brain gene expression, we show that mutation class explains enrichment patterns more than specific disorder. Genes with loss-of-function mutations and genes with missense mutations were associated with different pathways across disorders...
February 28, 2017: Cell Reports
https://www.readbyqxmd.com/read/28150911/cerebellar-contributions-to-biological-motion-perception-in-autism-and-typical-development
#17
Allison Jack, Cara M Keifer, Kevin A Pelphrey
Growing evidence suggests that posterior cerebellar lobe contributes to social perception in healthy adults. However, they know little about how this process varies across age and with development. Using cross-sectional fMRI data, they examined cerebellar response to biological (BIO) versus scrambled (SCRAM) motion within typically developing (TD) and autism spectrum disorder (ASD) samples (age 4-30 years old), characterizing cerebellar response and BIO > SCRAM-selective effective connectivity, as well as associations with age and social ability...
April 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/27977875/developmental-changes-in-neuromagnetic-rhythms-and-network-synchrony-in-autism
#18
Vasily A Vakorin, Sam M Doesburg, Rachel C Leung, Vanessa M Vogan, Evdokia Anagnostou, Margot J Taylor
OBJECTIVE: There is gathering consensus that altered connectivity is a hallmark of the autistic brain. This includes atypical neural oscillations and their coordination across brain regions, which are understood to mediate information processing and integration. It remains unclear whether and how connectivity in various neurophysiological frequency ranges develops atypically in autism spectrum disorder (ASD). METHODS: To address this in a cross-sectional sample, we recorded resting-state magnetoencephalography from 134 children and adolescents with and without ASD, and calculated resting spectral power and inter-regional synchrony (functional connectivity)...
February 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27957319/blood-brain-barrier-and-intestinal-epithelial-barrier-alterations-in-autism-spectrum-disorders
#19
Maria Fiorentino, Anna Sapone, Stefania Senger, Stephanie S Camhi, Sarah M Kadzielski, Timothy M Buie, Deanna L Kelly, Nicola Cascella, Alessio Fasano
BACKGROUND: Autism spectrum disorders (ASD) are complex conditions whose pathogenesis may be attributed to gene-environment interactions. There are no definitive mechanisms explaining how environmental triggers can lead to ASD although the involvement of inflammation and immunity has been suggested. Inappropriate antigen trafficking through an impaired intestinal barrier, followed by passage of these antigens or immune-activated complexes through a permissive blood-brain barrier (BBB), can be part of the chain of events leading to these disorders...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27876135/from-molecules-to-behavior-an-integrative-theory-of-autism-spectrum-disorder
#20
Alexandru-Ştefan Niculae, Denis Pavăl
Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders for which various theories have been proposed. Each theory brings valuable insights and has experimental evidence backing it, yet none provides an overarching explanation for each of the pathological aspects involved in ASD. Here we present an integrative theory of ASD, centered on a sequence of events spanning from the molecular to the behavioral level. We propose that an abnormality in the interplay between retinoic acid and sex hormones predisposes an individual to specific molecular malfunctions...
December 2016: Medical Hypotheses
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