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https://www.readbyqxmd.com/read/28093257/selective-preservation-of-cholinergic-mecp2-rescues-specific-rett-syndrome-like-phenotypes-in-mecp2-stop-mice
#1
Huanhuan Zhou, Wei Wu, Ying Zhang, Haiyang He, Zhefeng Yuan, Zhiwei Zhu, Zhengyan Zhao
RTT is a neurodevelopmental disorder characterized by growth regression, motor dysfunction, stereotypic hand movements, and autism features. Typical Rett syndrome (RTT) is predominantly caused by mutations in X-linked MeCP2 gene which encodes methyl-CpG-binding protein 2 (MeCP2). The brain-abundant MeCP2 protein mainly functions as a transcriptional regulator for neurodevelopment-associated genes. Specific functions of MeCP2 in certain neuron types remain to be known. Although cholinergic system is an important modulating system in brain, how MeCP2 in cholinergic neurons contribute to RTT has not been clearly understood...
January 13, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28090698/presentation-and-validation-of-the-duckees-child-and-adolescent-dynamic-facial-expressions-stimulus-set
#2
Nicole R Giuliani, John C Flournoy, Elizabeth J Ivie, Arielle Von Hippel, Jennifer H Pfeifer
The stimulus sets presently used to study emotion processing are primarily static pictures of individuals (primarily adults) making emotional facial expressions. However, the dynamic, stereotyped movements associated with emotional expressions contain rich information missing from static pictures, such as the difference between happiness and pride. We created a set of 1.1 s dynamic emotional facial stimuli representing boys and girls aged 8-18. A separate group of 36 individuals (mean [M] age = 19.5 years, standard deviation [SD] = 1...
January 16, 2017: International Journal of Methods in Psychiatric Research
https://www.readbyqxmd.com/read/28039782/reduced-sensitivity-to-social-priors-during-action-prediction-in-adults-with-autism-spectrum-disorders
#3
Valerian Chambon, Chlöé Farrer, Elisabeth Pacherie, Pierre O Jacquet, Marion Leboyer, Tiziana Zalla
An extensive amount of evidence has documented a diminished ability to predict and understand other people's action in individuals with autism spectrum disorders (ASD). Recently, two theoretical accounts, the "Hypo-priors" and the "Aberrant precision" hypotheses, have suggested that attenuated Bayesian priors or an imbalance of the precision ascribed to sensory evidence relative to prior expectations may be responsible for the atypical perceptual experience and difficulties with action understanding in ASD...
December 28, 2016: Cognition
https://www.readbyqxmd.com/read/28018667/a-continuous-ideal-free-distribution-approach-to-the-dynamics-of-selfish-cooperative-and-kleptoparasitic-populations
#4
Ilona Reding, Michael Kelley, Jonathan T Rowell, Jan Rychtář
Population distributions depend upon the aggregate behavioural responses of individuals to a range of environmental factors. We extend a model of ideally motivated populations to describe the local and regional consequences of interactions between three populations distinguished by their levels of cooperation and exploitation. Inspired by the classic prisoner's dilemma game, stereotypical fitness functions describe a baseline non-cooperative population whose per capita fitness decreases with density, obligate co-operators who initially benefit from the presence of conspecifics, and kleptoparasites who require heterospecifics to extract resources from the environment...
November 2016: Royal Society Open Science
https://www.readbyqxmd.com/read/27993527/use-of-electric-field-sensors-for-recording-respiration-heart-rate-and-stereotyped-motor-behaviors-in-the-rodent-home-cage
#5
Donald J Noble, Camden J MacDowell, Michael L McKinnon, Tamra I Neblett, William N Goolsby, Shawn Hochman
BACKGROUND: Numerous environmental and genetic factors can contribute significantly to behavioral and cardiorespiratory variability observed experimentally. Affordable technologies that allow for noninvasive home cage capture of physio-behavioral variables should enhance understanding of inter-animal variability including after experimental interventions. NEW METHOD: We assessed whether EPIC electric field sensors (Plessey Semiconductors) embedded within or attached externally to a rodent's home cage could accurately record respiration, heart rate, and motor behaviors...
December 16, 2016: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/27940212/the-categories-frequencies-and-stability-of-idiosyncratic-eye-movement-patterns-to-faces
#6
Joseph Arizpe, Vincent Walsh, Galit Yovel, Chris I Baker
The spatial pattern of eye-movements to faces considered typical for neurologically healthy individuals is a roughly T-shaped distribution over the internal facial features with peak fixation density tending toward the left eye (observer's perspective). However, recent studies indicate that striking deviations from this classic pattern are common within the population and are highly stable over time. The classic pattern actually reflects the average of these various idiosyncratic eye-movement patterns across individuals...
December 16, 2016: Vision Research
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#7
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27905391/-the-stabilometric-and-clinical-characteristics-in-patients-with-the-consequences-of-stroke-during-the-complex-rehabilitation
#8
V A Bronnikov, V B Smychek, Yu A Mavlikaeva, K A Sklyannaya, Yu I Kravtsov, A O Gorbacheva, A V Vil'deman
AIM: To perform the complex stabilometric and clinical assessment of movement disorders in post-stroke patients. MATERIAL AND METHODS: Sixty-three patients in the late recovery period of stroke underwent the complex rehabilitation in the hospital. RESULTS: Based on the dynamics of statokinesiogram area and shift of the center of pressure, four variants of stabilometric changes with different baseline parameters of patient's motor activity were determined...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#9
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27884450/rhythmic-movement-disorder-in-childhood-an-integrative-review
#10
REVIEW
Amy R M Gwyther, Arthur S Walters, Catherine M Hill
Rhythmic movement disorder consists of repetitive stereotypic movements, such as head banging or body rocking, that recur every second or so and may last from a few minutes to hours, usually prior to sleep onset. This review of childhood rhythmic movement disorder highlights the lack of systematic research into core aspects of the condition, relying heavily on small case series or case reports. Interpretation is further limited by almost universal failure to confirm the core diagnostic criteria (C) of the International classification of sleep disorders (III), namely that the rhythmic movements should have clinical consequences...
August 26, 2016: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/27876002/sporadic-creutzfeldt-jakob-disease-with-unusual-initial-presentation-as-posterior-reversible-encephalopathy-syndrome-a-case-report
#11
Edgaras Dirzius, Renata Balnyte, Vesta Steibliene, Rymante Gleizniene, Inga Gudinaviciene, Andrius Radziunas, Kestutis Petrikonis
BACKGROUND: Creutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy. CASE PRESENTATION: We present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient's death after13 months...
November 22, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27847491/social-threat-and-motor-resonance-when-a-menacing-outgroup-delays-motor-response
#12
Roberta Capellini, Simona Sacchi, Paola Ricciardelli, Rossana Actis-Grosso
Motor resonance (MR) involves the activation of matching motor representations while observing others' actions. Recent research has shown that such a phenomenon is likely to be influenced by higher order variables such as social factors (e.g., ethnic group membership). The present study investigates whether and how the perception of a social threat elicited by an outgroup member and by contextual cues can modulate motor responses while an individual observes others' movements. In an experimental study based on an action observation paradigm, we asked participants to provide answers through computer mouse movements (MouseTracker)...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27828976/seasonal-and-diel-vocalization-patterns-of-antarctic-blue-whale-balaenoptera-musculus-intermedia-in-the-southern-indian-ocean-a-multi-year-and-multi-site-study
#13
Emmanuelle C Leroy, Flore Samaran, Julien Bonnel, Jean-Yves Royer
Passive acoustic monitoring is an efficient way to provide insights on the ecology of large whales. This approach allows for long-term and species-specific monitoring over large areas. In this study, we examined six years (2010 to 2015) of continuous acoustic recordings at up to seven different locations in the Central and Southern Indian Basin to assess the peak periods of presence, seasonality and migration movements of Antarctic blue whales (Balaenoptera musculus intermedia). An automated method is used to detect the Antarctic blue whale stereotyped call, known as Z-call...
2016: PloS One
https://www.readbyqxmd.com/read/27822381/clinical-pearls-how-my-patients-taught-me-the-fainting-lark-symptom
#14
A Kuiper, M E van Egmond, M P M Harms, M D Oosterhoff, B van Harten, D A Sival, T J de Koning, M A J Tijssen
BACKGROUND: Compulsive movements, complex tics and stereotypies are frequent, especially among patients with autism or psychomotor retardation. These movements can be difficult to characterize and can mimic other conditions like epileptic seizures or paroxysmal dystonia, particularly when abnormal breathing and cerebral hypoxia are induced. CASE PRESENTATION: We describe an 18-year-old patient with Asperger syndrome who presented with attacks of tonic posturing of the trunk and neck...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/27762172/the-effect-of-display-movement-angle-indicator-type-and-display-location-on-control-display-stereotype-strength
#15
Errol R Hoffmann, Alan H S Chan
Much research on stereotype strength relating display and control movements for displays moving in the vertical or horizontal directions has been reported. Here we report effects of display movement angle, where the display moves at angles (relative to the vertical) of between 0 and 180 degrees. The experiment used six different controls, four display locations relative to the operator and three types of indicator. Indicator types were included because of the strong effects of the "scale-side principle" (Brebner and Sandow 1976a) that are variable with display angle...
October 20, 2016: Ergonomics
https://www.readbyqxmd.com/read/27761913/xq28-duplication-including-mecp2-in-six-unreported-affected-females-what-can-we-learn-for-diagnosis-and-genetic-counselling
#16
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27744289/temporal-evolution-of-target-representation-movement-direction-planning-and-reach-execution-in-occipital-parietal-frontal-cortex-an-fmri-study
#17
David C Cappadocia, Simona Monaco, Ying Chen, Gunnar Blohm, J Douglas Crawford
The cortical mechanisms for reach have been studied extensively, but directionally selective mechanisms for visuospatial target memory, movement planning, and movement execution have not been clearly differentiated in the human. We used an event-related fMRI design with a visuospatial memory delay, followed by a pro-/anti-reach instruction, a planning delay, and finally a "go" instruction for movement. This sequence yielded temporally separable preparatory responses that expanded from modest parieto-frontal activation for visual target memory to broad occipital-parietal-frontal activation during planning and execution...
October 15, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27741569/skin-of-the-red-eye-tree-frog-agalychnis-callidryas-hylidae-phyllomedusinae-contains-lipid-glands-of-the-type-described-in-the-genus-phyllomedusa
#18
Elisa Rota, Gianfranco Tanteri, Gilberto Montori, Filippo Giachi, Giovanni Delfino, David M Sever
Several anuran species of the genus Phyllomedusa are known to possess specialized cutaneous glands producing lipids and exhibit a peculiar wiping behavior. This behavior is a stereotyped repertory of fore and hind limb movements distributing hydrophobic molecules onto the body surface and reducing evaporative water loss. No reports are presently available on the occurrence of lipid glands in other phyllomedusine genera, and data on the structure of the secretory units specialized for the production of cutaneous lipids are still unclear...
October 14, 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27733748/motor-coordination-impairment-in-children-with-autism-spectrum-disorder-a-pilot-study-using-movement-assessment-battery-for-children-2-checklist
#19
Giulia Purpura, Francesca Fulceri, Vittoria Puglisi, Patrizia Masoni, Annarita Contaldo
BACKGROUND: Some research suggests that children with autism spectrum disorder (ASD) experience diverse motor difficulties that appear closely related to the severity of symptomatology, including repetitive behaviors. Therefore, motor assessment in ASD has crucial relevance in order to plan a specific intervention. The aim of this study is to assess and describe the motor functioning in school-aged children with ASD and to evaluate the relationship between their motor profile and clinical features...
October 12, 2016: Minerva Pediatrica
https://www.readbyqxmd.com/read/27719879/imaging-studies-of-functional-neurologic-disorders
#20
S Aybek, P Vuilleumier
Brain imaging techniques provide unprecedented opportunities to study the neural mechanisms underlying functional neurologic disorder (FND, or conversion disorder), which have long remained a mystery and clinical challenge for physicians, as they arise with no apparent underlying organic disease. One of the first questions addressed by imaging studies concerned whether motor conversion deficits (e.g., hysteric paralysis) represent a form of (perhaps unconscious) simulation, a mere absence of voluntary movement, or more specific disturbances in motor control (such as abnormal inhibition)...
2017: Handbook of Clinical Neurology
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