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https://www.readbyqxmd.com/read/29762671/motor-impairments-correlate-with-social-deficits-and-restricted-neuronal-loss-in-an-environmental-model-of-autism
#1
Tareq Al Sagheer, Obelia Haida, Anais Balbous, Maureen Francheteau, Emmanuel Matas, Pierre-Olivier Fernagut, Mohamed Jaber
Background: Motor impairments are amongst the earliest and most consistent signs of autism spectrum disorders (ASD) but are not used as diagnostic criteria. In addition, the relationship between motor and cognitive impairments and their respective neural substrates remain unknown. Methods: Here, we aimed at determining whether a well-acknowledged animal model of ASD, the valproic acid (VPA) model, displays motor impairments and whether they may correlate with social deficits and neuronal loss within motor brain areas...
May 12, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29761862/cellular-stress-and-apoptosis-contribute-to-the-pathogenesis-of-autism-spectrum-disorder
#2
Daoyin Dong, Horst Ronald Zielke, David Yeh, Peixin Yang
The molecular pathogenesis of autism spectrum disorder, a neurodevelopmental disorder, is still elusive. In this study, we investigated the possible roles of endoplasmic reticulum (ER) stress, oxidative stress, and apoptosis as molecular mechanisms underlying autism. This study compared the activation of ER stress signals (protein kinase R-like endoplasmic reticulum kinase [PERK], activating transcription factor 6 [ATF6], inositol-requiring enzyme 1 alpha [IRE1α]) in different brain regions (prefrontal cortex, hippocampus, cerebellum) in subjects with autism and in age-matched controls...
May 15, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29746896/insights-into-cerebellar-development-and-connectivity
#3
REVIEW
Jaclyn Beckinghausen, Roy V Sillitoe
The cerebellum has a well-established role in controlling motor functions such coordination, balance, posture, and skilled learning. There is mounting evidence that it might also play a critical role in non-motor functions such as cognition and emotion. It is therefore not surprising that cerebellar deficits are associated with a wide array of diseases including ataxia, dystonia tremor, schizophrenia, dyslexia, and autism spectrum disorder. What is intriguing is that a seemingly uniform circuit that is often described as being "simple" should carry out all of these behaviors...
May 7, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29734504/typical-use-of-inverse-dynamics-in-perceiving-motion-in-autistic-adults-exploring-computational-principles-of-perception-and-action
#4
Shinya Takamuku, Paul A G Forbes, Antonia F de C Hamilton, Hiroaki Gomi
There is increasing evidence for motor difficulties in many people with autism spectrum condition (ASC). These difficulties could be linked to differences in the use of internal models which represent relations between motions and forces/efforts. The use of these internal models may be dependent on the cerebellum which has been shown to be abnormal in autism. Several studies have examined internal computations of forward dynamics (motion from force information) in autism, but few have tested the inverse dynamics computation, that is, the determination of force-related information from motion information...
May 7, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29719483/the-baseline-pattern-and-age-related-developmental-metabolic-changes-in-the-brain-of-children-with-autism-as-measured-on-positron-emission-tomography-computed-tomography-scan
#5
Alok Sharma, Nandini Gokulchandran, Hemangi Sane, Samson Nivins, Amruta Paranjape, Prerna Badhe
[18 F] 2-fluoro-2-deoxy-D-glucose positron emission tomography-computed tomography scan was performed on 45 children with autism to study the baseline pattern and age-related developmental changes in the brain metabolism. Median standardized uptake values (SUVs) were compared with published healthy control data. Results showed that, in contrary to control data, the median SUVs in children with autism decrease linearly with increase in age. As compared to controls, autism children below 5 years showed greater metabolism and older children showed lower metabolism...
April 2018: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29694338/cerebral-hypoperfusion-in-autism-spectrum-disorder
#6
Geir Bjørklund, Janet K Kern, Mauricio A Urbina, Khaled Saad, Amira A El-Houfey, David A Geier, Salvatore Chirumbolo, Mark R Geier, Jyutika A Mehta, Jan Aaseth
Cerebral hypoperfusion, or insufficient blood flow in the brain, occurs in many areas of the brain in patients diagnosed with autism spectrum disorder (ASD). Hypoperfusion was demonstrated in the brains of individuals with ASD when compared to normal healthy control brains either using positron emission tomography (PET) or single‑photon emission computed tomography (SPECT). The affected areas include, but are not limited to the: prefrontal, frontal, temporal, occipital, and parietal cortices; thalami; basal ganglia; cingulate cortex; caudate nucleus; the limbic system including the hippocampal area; putamen; substantia nigra; cerebellum; and associative cortices...
2018: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/29656859/dual-molecular-effects-of-dominant-rora-mutations-cause-two-variants-of-syndromic-intellectual-disability-with-either-autism-or-cerebellar-ataxia
#7
Claire Guissart, Xenia Latypova, Paul Rollier, Tahir N Khan, Hannah Stamberger, Kirsty McWalter, Megan T Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon Sattler, Irman Forghani, Isabelle Thiffault, Christine M Freitag, Deborah Sara Barbouth, Maxime Cadieux-Dion, Rebecca Willaert, Maria J Guillen Sacoto, Nicole P Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Hays Karlowicz, Jean-François Deleuze, Monica H Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al-Gazali, Aisha Mohamed Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan J Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, Michel Koenig, Erica E Davis, Laurent Pasquier, Sébastien Küry
RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy...
April 10, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29617056/predictable-information-in-neural-signals-during-resting-state-is-reduced-in-autism-spectrum-disorder
#8
Alla Brodski-Guerniero, Marcus J Naumer, Vera Moliadze, Jason Chan, Heike Althen, Fernando Ferreira-Santos, Joseph T Lizier, Sabine Schlitt, Janina Kitzerow, Magdalena Schütz, Anne Langer, Jochen Kaiser, Christine M Freitag, Michael Wibral
The neurophysiological underpinnings of the nonsocial symptoms of autism spectrum disorder (ASD) which include sensory and perceptual atypicalities remain poorly understood. Well-known accounts of less dominant top-down influences and more dominant bottom-up processes compete to explain these characteristics. These accounts have been recently embedded in the popular framework of predictive coding theory. To differentiate between competing accounts, we studied altered information dynamics in ASD by quantifying predictable information in neural signals...
April 4, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29593596/neural-dynamics-of-autistic-repetitive-behaviors-and-fragile-x-syndrome-basal-ganglia-movement-gating-and-mglur-modulated-adaptively-timed-learning
#9
Stephen Grossberg, Devika Kishnan
This article develops the iSTART neural model that proposes how specific imbalances in cognitive, emotional, timing, and motor processes that involve brain regions like prefrontal cortex, temporal cortex, amygdala, hypothalamus, hippocampus, and cerebellum may interact together to cause behavioral symptoms of autism. These imbalances include underaroused emotional depression in the amygdala/hypothalamus, learning of hyperspecific recognition categories that help to cause narrowly focused attention in temporal and prefrontal cortices, and breakdowns of adaptively timed motivated attention and motor circuits in the hippocampus and cerebellum...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29556211/deficits-in-visuo-motor-temporal-integration-impacts-manual-dexterity-in-probable-developmental-coordination-disorder
#10
Satoshi Nobusako, Ayami Sakai, Taeko Tsujimoto, Takashi Shuto, Yuki Nishi, Daiki Asano, Emi Furukawa, Takuro Zama, Michihiro Osumi, Sotaro Shimada, Shu Morioka, Akio Nakai
The neurological basis of developmental coordination disorder (DCD) is thought to be deficits in the internal model and mirror-neuron system (MNS) in the parietal lobe and cerebellum. However, it is not clear if the visuo-motor temporal integration in the internal model and automatic-imitation function in the MNS differs between children with DCD and those with typical development (TD). The current study aimed to investigate these differences. Using the manual dexterity test of the Movement Assessment Battery for Children (second edition), the participants were either assigned to the probable DCD (pDCD) group or TD group...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29477220/thiamin
#11
REVIEW
Derrick Lonsdale
Starting with a brief history of beriberi and the discovery that thiamin deficiency is its cause, the symptoms and signs are reviewed. None are pathognomonic. The disease has a low mortality and a long morbidity. The appearance of the patient can be deceptive, often being mistaken for psychosomatic disease in the early stages. The chemistry of thiamin and the laboratory methodology for depicting its deficiency are outlined. The diseases associated with thiamin deficiency, apart from malnutrition, include a number of genetically determined conditions where mutations, either in the cofactor relationship or a transporter, provide the etiology...
2018: Advances in Food and Nutrition Research
https://www.readbyqxmd.com/read/29449954/metabotropic-glutamate-receptor-5-tracer-18-f-fpeb-displays-increased-binding-potential-in-postcentral-gyrus-and-cerebellum-of-male-individuals-with-autism-a-pilot-pet-study
#12
S Hossein Fatemi, Dean F Wong, James R Brašić, Hiroto Kuwabara, Anil Mathur, Timothy D Folsom, Suma Jacob, George M Realmuto, José V Pardo, Susanne Lee
Background: Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and prefrontal cortex of individuals with autism. Methods: In the current study we employed the mGluR5 tracer [18 F]-3-fluoro-5-[(pyridin-3-yl)ethynyl]benzonitrile ([18 F]-FPEB) to quantify mGluR5 binding in vivo in adults with autism vs...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29446202/conditional-deletion-of-cadherin-13-perturbs-golgi-cells-and-disrupts-social-and-cognitive-behaviors
#13
M Tantra, L Guo, J Kim, N Zainolabidin, V Eulenburg, G J Augustine, A I Chen
Inhibitory interneurons mediate the gating of synaptic transmission and modulate the activities of neural circuits. Disruption of the function of inhibitory networks in the forebrain is linked to impairment of social and cognitive behaviors, but the involvement of inhibitory interneurons in the cerebellum has not been assessed. We found that Cadherin 13 (Cdh13), a gene implicated in autism spectrum disorder and attention-deficit hyperactivity disorder, is specifically expressed in Golgi cells within the cerebellar cortex...
February 15, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29349629/cerebellum-from-development-to-disease-the-8th-international-symposium-of-the-society-for-research-on-the-cerebellum-and-ataxias
#14
EDITORIAL
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
February 2018: Cerebellum
https://www.readbyqxmd.com/read/29316490/local-and-long-range-circuit-elements-for-cerebellar-function
#15
REVIEW
Le Xiao, Peter Scheiffele
The view of cerebellar functions has been extended from controlling sensorimotor processes to processing 'contextual' information and generating predictions for a diverse range of behaviors. These functions rely on the computation of the local cerebellar microcircuits and long-range connectivity that relays cerebellar output to various brain areas. In this review, we discuss recent work on two of the circuit elements, which are thought to be fundamental for a wide range of non-sensorimotor behaviors: The role for cerebellar granule cells in multimodal integration in the cerebellar cortex and the long-range connectivity between the deep cerebellar nuclei and the basal ganglia...
February 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29260439/eye-movement-research-in-the-twenty-first-century-a-window-to-the-brain-mind-and-more
#16
EDITORIAL
Aasef G Shaikh, David S Zee
The study of eye movements not only addresses debilitating neuro-ophthalmological problems but has become an essential tool of basic neuroscience research. Eye movements are a classic way to evaluate brain function-traditionally in disorders affecting the brainstem and cerebellum. Abnormalities of eye movements have localizing value and help narrow the differential diagnosis of complex neurological problems. More recently, using sophisticated behavioral paradigms, measurement of eye movements has also been applied to disorders of the thalamus, basal ganglia, and cerebral cortex...
December 19, 2017: Cerebellum
https://www.readbyqxmd.com/read/29230189/structural-covariance-of-sensory-networks-the-cerebellum-and-amygdala-in-autism-spectrum-disorder
#17
Garrett J Cardon, Susan Hepburn, Donald C Rojas
Sensory dysfunction is a core symptom of autism spectrum disorder (ASD), and abnormalities with sensory responsivity and processing can be extremely debilitating to ASD patients and their families. However, relatively little is known about the underlying neuroanatomical and neurophysiological factors that lead to sensory abnormalities in ASD. Investigation into these aspects of ASD could lead to significant advancements in our general knowledge about ASD, as well as provide targets for treatment and inform diagnostic procedures...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29209259/reinforcement-learning-in-autism-spectrum-disorder
#18
REVIEW
Manuela Schuetze, Christiane S Rohr, Deborah Dewey, Adam McCrimmon, Signe Bray
Early behavioral interventions are recognized as integral to standard care in autism spectrum disorder (ASD), and often focus on reinforcing desired behaviors (e.g., eye contact) and reducing the presence of atypical behaviors (e.g., echoing others' phrases). However, efficacy of these programs is mixed. Reinforcement learning relies on neurocircuitry that has been reported to be atypical in ASD: prefrontal-sub-cortical circuits, amygdala, brainstem, and cerebellum. Thus, early behavioral interventions rely on neurocircuitry that may function atypically in at least a subset of individuals with ASD...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29167833/disorder-specific-and-shared-brain-abnormalities-during-vigilance-in-autism-and-obsessive-compulsive-disorder
#19
Christina O Carlisi, Luke Norman, Clodagh M Murphy, Anastasia Christakou, Kaylita Chantiluke, Vincent Giampietro, Andrew Simmons, Michael Brammer, Declan G Murphy, David Mataix-Cols, Katya Rubia
Background: Autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) are often comorbid and share similarities across some cognitive phenotypes, including certain aspects of attention. However, no functional magnetic resonance imaging studies have compared the underlying neural mechanisms contributing to these shared phenotypes. Methods: Age- and IQ-matched boys (11-17 years old) with ASD ( n = 20), boys with OCD ( n = 20), and healthy control boys ( n = 20) performed a parametrically modulated psychomotor vigilance functional magnetic resonance imaging task...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29145823/dbmdega-a-database-for-meta-analysis-of-differentially-expressed-genes-in-autism-spectrum-disorder
#20
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
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