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https://www.readbyqxmd.com/read/28228639/grin1-mutation-associated-with-intellectual-disability-alters-nmda-receptor-trafficking-and-function
#1
Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson
N-methyl-d-aspartate receptors (NMDARs) play important roles in brain development and neurological disease. We report two individuals with similar dominant de novo GRIN1 mutations (c.1858 G>A and c.1858 G>C; both p.G620R). Both individuals presented at birth with developmental delay and hypotonia associated with behavioral abnormalities and stereotypical movements. Recombinant NMDARs containing the mutant GluN1-G620R together with either GluN2A or GluN2B were evaluated for changes in their trafficking to the plasma membrane and their electrophysiological properties...
February 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28222331/the-moro-reaction-more-than-a-reflex-a-ritualized-behavior-of-nonverbal-communication
#2
Pierre V Rousseau, Florence Matton, Renaud Lecuyer, Willy Lahaye
OBJECTIVE: To propose a phylogenetic significance to the Moro reflex which remains unexplained since its publication in 1918 because both hands are free at the end of the gesture. METHOD: Among the 75 videos of healthy term newborns we have filmed in a research project on antenatal education to parenthood, we describe a sequence that clearly showed the successive movements of the Moro reflex and we report the occurrence of this reflex in the videos that were recorded from Time 0 of birth defined as the moment that lies between the birth of the thorax and the pelvis of the infant...
February 18, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28202362/effects-of-crude-extracts-of-a-saxitoxin-producer-strain-of-the-cyanobacterium-cylindrospermopsis-raciborskii-on-the-swimming-behavior-of-wild-and-laboratory-reared-guppy-poecilia-vivipara
#3
Karina C Lopes, Aloysio da S Ferrão-Filho, Everton G N Dos Santos, Rodolfo A Cunha, Cláudia P Santos
The cyanobacterium Cylindrospermopsis raciborskii is an invasive species in water supply reservoirs worldwide, which can produces cylindrospermopsins and saxitoxins. In the wild, guppy (Poecilia vivipara) can be exposed to cyanotoxins, but those born and reared in laboratory are free of this contact. The aim of this paper was to comparatively measure the locomotor activity of 'wild' and 'lab' P. vivipara before and after exposure to crude extracts of two different cultures of C. raciborskii (CYRF-01), a saxitoxin-procucer strain...
February 12, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28182963/over-facilitation-of-unadapted-cognitive-processes-in-obsessive-compulsive-disorder-as-assessed-with-the-computerized-mirror-pointing-task
#4
Guillaume Dulude, Kieron O'Connor, Jean-Sebastien Audet, Marc-André Bedard
Response inhibition has been suggested to be dysfunctional in obsessive-compulsive disorder (OCD). However, this process involves intentional cognitive control, which does not correspond to the automatic emergence of stereotyped thoughts and behaviours usually reported by patients with OCD. In the present study, the excessive facilitation of unintentional processes was assessed in OCD by using the Computerized Mirror Pointing Task (CMPT). Seventy-six volunteers participated in this study, including 39 patients with OCD and 37 healthy controls...
January 31, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28132692/a-recurrent-de-novo-variant-in-nacc1-causes-a-syndrome-characterized-by-infantile-epilepsy-cataracts-and-profound-developmental-delay
#5
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk, Nicholas Stong, Eriskay Liston, Ronald D Cohn, Fernando Scaglia, Jill A Rosenfeld, Jennifer Tarpinian, Cara M Skraban, Matthew A Deardorff, Jeremy N Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A Mikati, Peter G Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F Nelson, Hane Lee, Naghmeh Dorrani, David B Goldstein, Rui Xiao, Yaping Yang, Jennifer E Posey, Julian A Martinez-Agosto, James R Lupski, Michael F Wangler, Vandana Shashi
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28124193/-not-brain-washed-but-heart-washed-a-qualitative-analysis-of-benevolent-sexism-in-the-anti-choice-stance
#6
Kari N Duerksen, Karen L Lawson
PURPOSE: In recent years, anti-choice dialog has shifted from a focus on the fetus to a focus on the woman. This new movement constructs itself as positive and pro-woman, while perpetuating harmful stereotypes about women and the effects of abortion. Research has shown a relationship between benevolent sexism (beliefs that women are morally pure creatures in need of protection and nurturing) and restrictive attitudes towards abortion, although no research has qualitatively explored this relationship...
January 25, 2017: International Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28110694/tourette-syndrome-in-the-context-of-evolution-and-behavioral-ecology
#7
Jared Edward Reser
Tourette syndrome, and the closely related spectrum of tic disorders, are inherited neuropsychiatric conditions characterized by the presence of repetitive and stereotyped movements. Tics are elicited by either environmental experiences or internal signals that instruct the basal ganglia to initiate automatic or procedural movements. In most vertebrates the basal ganglia encode instructions for habitually used sequences of motor movements that are essential to survival. Tic disorders may represent evolved phenotypes with a lower threshold for basal ganglia-directed actions...
February 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28093257/selective-preservation-of-cholinergic-mecp2-rescues-specific-rett-syndrome-like-phenotypes-in-mecp2-stop-mice
#8
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 16, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28090698/presentation-and-validation-of-the-duckees-child-and-adolescent-dynamic-facial-expressions-stimulus-set
#9
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
#10
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...
March 2017: Cognition
https://www.readbyqxmd.com/read/28018667/a-continuous-ideal-free-distribution-approach-to-the-dynamics-of-selfish-cooperative-and-kleptoparasitic-populations
#11
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
#12
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...
February 1, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/27940212/the-categories-frequencies-and-stability-of-idiosyncratic-eye-movement-patterns-to-faces
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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