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https://www.readbyqxmd.com/read/28436342/comparison-of-neural-substrates-of-temporal-discounting-between-youth-with-autism-spectrum-disorder-and-with-obsessive-compulsive-disorder
#1
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
#2
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...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28392909/neurogenetic-analysis-of-childhood-disintegrative-disorder
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27868392/cerebellar-gray-matter-differentiates-children-with-early-language-delay-in-autism
#10
Anila M D'Mello, Dorothea M Moore, Deana Crocetti, Stewart H Mostofsky, Catherine J Stoodley
Early language delay (ELD) is one of the earliest indicators of autism spectrum disorder (ASD), and predicts later cognitive and behavioral outcomes. We aimed to determine the neural correlates of ELD in autism, and examine the relationships between gray matter (GM), age of first word/phrase, and core ASD symptoms. We used voxel-based morphometry to examine whole-brain differences in GM in 8-13 year old children with autism (n = 13 ELD; n = 22 non-ELD) and 35 age-matched typically developing (TD) children...
November 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27866083/neuroanatomical-differences-in-fast-and-slow-rat-strains-with-differential-vulnerability-to-kindling-and-behavioral-comorbidities
#11
Pragati Sharma, Stefanie Dedeurwaerdere, Michael A D Vandenberg, Ke Fang, Leigh A Johnston, Sandy R Shultz, Terence J O'Brien, Krista L Gilby
OBJECTIVE: The neurobiological factors underlying a predisposition towards developing epilepsy and its common behavioral comorbidities are poorly understood. FAST rats are a strain that has been selectively bred for enhanced vulnerability to kindling, while the SLOW strain has been bred to be resistant to kindling. FAST rats also exhibit behavioral traits reminiscent of those observed in neurodevelopmental disorders (autism spectrum disorder (ASD)/attention-deficit/hyperactivity disorder (ADHD)) commonly comorbid with epilepsy...
December 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27746713/inter-method-discrepancies-in-brain-volume-estimation-may-drive-inconsistent-findings-in-autism
#12
Gajendra J Katuwal, Stefi A Baum, Nathan D Cahill, Chase C Dougherty, Eli Evans, David W Evans, Gregory J Moore, Andrew M Michael
Previous studies applying automatic preprocessing methods on Structural Magnetic Resonance Imaging (sMRI) report inconsistent neuroanatomical abnormalities in Autism Spectrum Disorder (ASD). In this study we investigate inter-method differences as a possible cause behind these inconsistent findings. In particular, we focus on the estimation of the following brain volumes: gray matter (GM), white matter (WM), cerebrospinal fluid (CSF), and total intra cranial volume (TIV). T1-weighted sMRIs of 417 ASD subjects and 459 typically developing controls (TDC) from the ABIDE dataset were estimated using three popular preprocessing methods: SPM, FSL, and FreeSurfer (FS)...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27616580/-the-cerebellum-as-a-major-player-in-motor-disturbances-related-to-autistic-syndrome-disorders
#13
M Jaber
SCIENTIFIC BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental disorders associated with disturbances in communication, social interactions, cognition and affect. ASD are also accompanied by complex movement disorders, including ataxia. A special focus of recent research in this area is made on the striatum and the cerebellum, two structures known not only to control movement but also to be involved in cognitive functions such as memory and language. Dysfunction within the motor system may be associated with abnormal movements in ASD that are translated into ataxia, abnormal pattern of righting, gait sequencing, development of walking, and hand positioning...
September 8, 2016: L'Encéphale
https://www.readbyqxmd.com/read/27581745/dysfunctional-cerebellar-purkinje-cells-contribute-to-autism-like-behaviour-in-shank2-deficient-mice
#14
Saša Peter, Michiel M Ten Brinke, Jeffrey Stedehouder, Claudia M Reinelt, Bin Wu, Haibo Zhou, Kuikui Zhou, Henk-Jan Boele, Steven A Kushner, Min Goo Lee, Michael J Schmeisser, Tobias M Boeckers, Martijn Schonewille, Freek E Hoebeek, Chris I De Zeeuw
Loss-of-function mutations in the gene encoding the postsynaptic scaffolding protein SHANK2 are a highly penetrant cause of autism spectrum disorders (ASD) involving cerebellum-related motor problems. Recent studies have implicated cerebellar pathology in the aetiology of ASD. Here we evaluate the possibility that cerebellar Purkinje cells (PCs) represent a critical locus of ASD-like pathophysiology in mice lacking Shank2. Absence of Shank2 impairs both PC intrinsic plasticity and induction of long-term potentiation at the parallel fibre to PC synapse...
2016: Nature Communications
https://www.readbyqxmd.com/read/27562096/treatment-of-autistic-spectrum-disorder-with-insulin-like-growth-factors
#15
REVIEW
Raili Riikonen
There are no treatments for the core symptoms of autistic spectrum disorder (ASD), but there is now more knowledge on emerging mechanisms and on mechanism-based therapies. In autism there are altered synapses: genes affected are commonly related to synaptic and immune function. Dysregulation of activity-dependent signaling networks may have a key role the etiology of autism. There is an over-activation of IGF-AKT-mTor in autism spectrum disorders. Morphological and electro-physiological defects of the cerebellum are linked to system-wide ASD-like behavior defects...
November 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27503586/brain-enhancer-activities-at-the-gene-poor-5p14-1-autism-associated-locus
#16
Yukiko U Inoue, Takayoshi Inoue
Due to the vast clinical and genetic heterogeneity, identification of causal genetic determinants for autism spectrum disorder (ASD) has proven to be complex. Whereas several dozen 'rare' genetic variants for ASD susceptibility have been identified, studies are still underpowered to analyse 'common' variants for their subtle effects. A recent application of genome-wide association studies (GWAS) to ASD indicated significant associations with the single nucleotide polymorphisms (SNPs) on chromosome 5p14.1, located in a non-coding region between cadherin10 (CDH10) and cadherin9 (CDH9)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27498245/a-single-low-dose-of-valproic-acid-in-late-prenatal-life-alters-postnatal-behavior-and-glutamic-acid-decarboxylase-levels-in-the-mouse
#17
Ran Wei, Qi Li, Sylvia Lam, Jana Leung, Charlton Cheung, Xiaofan Zhang, Pak Chung Sham, Siew Eng Chua, Grainne Mary McAlonan
RATIONALE: Rodents exposed to valproic acid (VPA) in prenatal life exhibit post-natal characteristics analogous to autism spectrum disorder (ASD). Many previous studies used relatively high doses of VPA during early pregnancy, potentially confounding interpretation because the offspring are the 'survivors' of a toxic insult. Low dose or late gestation exposure has not been widely studied. OBJECTIVES: We examined the behavioral sequelae of late gestation exposure to low dose VPA in the mouse...
November 1, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27452274/regulation-of-tlx3-by-pax6-is-required-for-the-restricted-expression-of-chrn%C3%AE-3-in-cerebellar-granule-neuron-progenitors-during-development
#18
Thulasi Sheela Divya, Soundararajan Lalitha, Surendran Parvathy, Chandramohan Subashini, Rajendran Sanalkumar, Sivadasan Bindu Dhanesh, Vazhanthodi Abdul Rasheed, Mundackal Sivaraman Divya, Shubha Tole, Jackson James
Homeobox gene Tlx3 is known to promote glutamatergic differentiation and is expressed in post-mitotic neurons of CNS. Contrary to this here, we discovered that Tlx3 is expressed in the proliferating progenitors of the external granule layer in the cerebellum, and examined factors that regulate this expression. Using Pax6(-/-)Sey mouse model and molecular interaction studies we demonstrate Pax6 is a key activator of Tlx3 specifically in cerebellum, and induces its expression starting at embryonic day (E)15. By Postnatal day (PN)7, Tlx3 is expressed in a highly restricted manner in the cerebellar granule neurons of the posterior cerebellar lobes, where it is required for the restricted expression of nicotinic cholinergic receptor-α3 subunit (Chrnα3) and other genes involved in formation of synaptic connections and neuronal migration...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27423630/voluntary-saccades-in-attention-deficit-hyperactivity-disorder-looking-into-the-relationship-between-motor-impairment-and-autism-spectrum-disorder-symptoms
#19
Amanda J Connolly, Nicole J Rinehart, Beth Johnson, Nicole Papadopoulos, Joanne Fielding
Although there is little overlap in core diagnostic criteria for ADHD and Autism Spectrum Disorder (ASD), ASD symptoms are estimated to co-occur in children with ADHD in 20-50% of cases. As motor control deficits are common to both disorders, we investigated the impact of ASD symptoms on ocular motor control in children with Attention Deficit Hyperactivity Disorder-Combined Type (ADHD-CT), using a cued saccade paradigm sensitive to cerebellar ocular motor impairment in ASD. Basic saccade metrics (latency, velocity and accuracy), trial-to-trial variability, and main sequences relationships (saccade velocity for a given amplitude) were assessed, for 14 males with ADHD-CT and 14 typically developing (TD) males (aged 8-14, IQ>80)...
July 14, 2016: Neuroscience
https://www.readbyqxmd.com/read/27343825/valproic-acid-exposure-sequentially-activates-wnt-and-mtor-pathways-in-rats
#20
Liyan Qin, Xufang Dai, Yunhou Yin
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interaction, limited verbal communication and repetitive behaviors. Recent studies have demonstrated that Wnt signaling and mTOR signaling play important roles in the pathogenesis of ASD. However, the relationship of these two signaling pathways in ASD remains unclear. RESULTS: We assessed this question using the valproic acid (VPA) rat model of autism. Our results demonstrated that VPA exposure activated mTOR signaling and suppressed autophagy in the prefrontal cortex, hippocampus and cerebellum of autistic model rats, characterized by enhanced phospho-mTOR and phospho-S6 and decreased Beclin1, Atg5, Atg10, LC3-II and autophagosome formation...
September 2016: Molecular and Cellular Neurosciences
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