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https://www.readbyqxmd.com/read/28813800/the-effects-of-control-signal-noise-on-simultaneous-submovements
#1
Kathleen R Wilson, Kevin B Englehart, Jon W Sensinger
Understanding the stereotypical characteristics of human movement can better inform rehabilitation practices by providing a template of healthy and expected human motor control. Multiplicative noise is inherent in goal-directed movement, such as reaching to grasp an object. Multiplicative noise plays an important role in computational motor control models to help support phenomena such as stereotypical kinematic profiles in time-constrained and unconstrained tasks. Most tasks are not carried out along an isolated degree-of-freedom (DOF), and modelling the contribution of noise can be difficult...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813454/applying-machine-learning-to-identify-autistic-adults-using-imitation-an-exploratory-study
#2
Baihua Li, Arjun Sharma, James Meng, Senthil Purushwalkam, Emma Gowen
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls...
2017: PloS One
https://www.readbyqxmd.com/read/28796977/a-novel-de-novo-20q13-11q13-12-microdeletion-in-a-boy-with-neurodevelopmental-disorders-case-report
#3
Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska
Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#4
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28768750/echo-acoustic-scanning-with-noseleaf-and-ears-in-phyllostomid-bats
#5
Kathrin Kugler, Lutz Wiegrebe
The mammalian visual system is highly directional and mammals typically employ rapid eye movements to scan their environment. Both sound emission and hearing in echolocating bats are directional but not much is known about how bats use ear movements and possibly movements of the sound-emitting structures to scan space. Here, we investigated in a tightly controlled behavioural experiment how Phyllostomusdiscolor bats employ their echolocation system while being moved through differently structured environments: we monitored and reconstructed both a close-up of the facial structures in 3D, including the motile noseleaf and outer ears, and the sonar-beam of the bat while it was moved along reflectors...
August 1, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28743752/thalamocortical-synchronization-during-induction-and-emergence-from-propofol-induced-unconsciousness
#6
Francisco J Flores, Katharine E Hartnack, Amanda B Fath, Seong-Eun Kim, Matthew A Wilson, Emery N Brown, Patrick L Purdon
General anesthesia (GA) is a reversible drug-induced state of altered arousal required for more than 60,000 surgical procedures each day in the United States alone. Sedation and unconsciousness under GA are associated with stereotyped electrophysiological oscillations that are thought to reflect profound disruptions of activity in neuronal circuits that mediate awareness and cognition. Computational models make specific predictions about the role of the cortex and thalamus in these oscillations. In this paper, we provide in vivo evidence in rats that alpha oscillations (10-15 Hz) induced by the commonly used anesthetic drug propofol are synchronized between the thalamus and the medial prefrontal cortex...
July 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28725418/development-of-an-automated-method-of-detecting-stereotyped-feeding-events-in-multisensor-data-from-tagged-rorqual-whales
#7
Ann N Allen, Jeremy A Goldbogen, Ari S Friedlaender, John Calambokidis
The introduction of animal-borne, multisensor tags has opened up many opportunities for ecological research, making previously inaccessible species and behaviors observable. The advancement of tag technology and the increasingly widespread use of bio-logging tags are leading to large volumes of sometimes extremely detailed data. With the increasing quantity and duration of tag deployments, a set of tools needs to be developed to aid in facilitating and standardizing the analysis of movement sensor data. Here, we developed an observation-based decision tree method to detect feeding events in data from multisensor movement tags attached to fin whales (Balaenoptera physalus)...
October 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/28692658/temporal-specificity-of-the-initial-adaptive-response-in-motor-adaptation
#8
Wilsaan M Joiner, Gary C Sing, Maurice A Smith
Repeated exposure to a novel physical environment eventually leads to a mature adaptive response whereby feedforward changes in motor output mirror both the amplitude and temporal structure of the environmental perturbations. However, adaptive responses at the earliest stages of learning have been found to be not only smaller, but systematically less specific in their temporal structure compared to later stages of learning. This observation has spawned a lively debate as to whether the temporal structure of the initial adaptive response is, in fact, stereotyped and non-specific...
July 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28684308/characterizing-ingestive-behavior-through-licking-microstructure-underlying-neurobiology-and-its-use-in-the-study-of-obesity-in-animal-models
#9
REVIEW
Alexander W Johnson
Ingestive behavior is controlled by multiple distinct peripheral and central physiological mechanisms that ultimately determine whether a particular food should be accepted or avoided. As rodents consume a fluid they display stereotyped rhythmic tongue movements, and by analyzing the temporal distribution of pauses of licking, it is possible through analyses of licking microstructure to uncover dissociable evaluative and motivational variables that contribute to ingestive behavior. The mean number of licks occurring within each burst of licking (burst and cluster size) reflects the palatability of the consumed solution, whereas the frequency of initiating novel bouts of licking behavior (burst and cluster number) is dependent upon the degree of gastrointestinal inhibition that accrues through continued fluid ingestion...
July 3, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28659855/upper-extremity-motor-impairments-and-microstructural-changes-in-bulbospinal-pathways-in-chronic-hemiparetic-stroke
#10
Meriel Owen, Carson Ingo, Julius P A Dewald
Following hemiparetic stroke, precise, individuated control of single joints is often replaced by highly stereotyped patterns of multi-joint movement, or abnormal limb synergies, which can negatively impact functional use of the paretic arm. One hypothesis for the expression of these synergies is an increased dependence on bulbospinal pathways such as the rubrospinal (RubST) tract and especially the reticulospinal (RetST) tracts, which co-activate multiple muscles of the shoulder, elbow, wrist, and fingers...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28653211/functional-psychogenic-stereotypies
#11
José Fidel Baizabal-Carvallo, Joseph Jankovic
Functional (psychogenic) movement disorders (FMDs) may present with a broad spectrum of phenomenology including stereotypic movements. We aimed to characterize the phenomenology of functional stereotypies and compare these features with those observed in 65 patients with tardive dyskinesia (TD). From a cohort of 184 patients with FMDs, we identified 19 (10.3%) with functional stereotypies (FS). There were 15 women and 4 men, with a mean age at onset of 38.6 ± 17.4 years. Among the patients with FS, there were 9 (47%) with orolingual dyskinesia/stereotypy, 9 (47%) with limb stereotypies, 6 (32%) with trunk stereotypies, and 2 (11%) with respiratory dyskinesia as part of orofacial-laryngeal-trunk stereotypy...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28621417/cell-fate-decisions-during-neural-crest-ontogeny
#12
Chaya Kalcheim, Deepak Kumar
The neural crest (NC) originates in the central nervous system (CNS) primordium. Born as an epithelium, NC progenitors undergo an epithelial-to-mesenchymal transition that generates cellular movement away from the CNS. Mesenchymal NC progenitors then migrate through stereotypic pathways characteristic of various axial levels until homing to distinct primordia where phenotypic differentiation takes place. Being the source of most of the peripheral nervous system, pigment cells and ectomesenchyme, the embryonic NC is considered to be a multipotent population of precursors...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28616126/autistic-traits-affect-interpersonal-motor-coordination-by-modulating-strategic-use-of-role-based-behavior
#13
Arianna Curioni, Ilaria Minio-Paluello, Lucia Maria Sacheli, Matteo Candidi, Salvatore Maria Aglioti
BACKGROUND: Despite the fact that deficits in social communication and interaction are at the core of Autism Spectrum Conditions (ASC), no study has yet tested individuals on a continuum from neurotypical development to autism in an on-line, cooperative, joint action task. In our study, we aimed to assess whether the degree of autistic traits affects participants' ability to modulate their motor behavior while interacting in a Joint Grasping task and according to their given role. METHODS: Sixteen pairs of adult participants played a cooperative social interactive game in which they had to synchronize their reach-to-grasp movements...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28610803/catatonia-is-not-schizophrenia-and-it-is-treatable
#14
Francisco J Appiani, Gonzalo S Castro
Catatonia is a cluster of motor features that appears in many recognized psychiatric illnesses, that according to the DSM-5 it is not linked as a subtype to schizophrenia anymore. The classic signs are mutism, a rigid posture, fixed staring, stereotypic movements, and stupor, which are all part of a broad psychopathology that may be found in affective, thought, neurological, toxic, metabolic and immunological disorders. Despite the many etiologies, catatonia may be a life-threatening condition with a specific treatment...
June 10, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28599653/dynamics-of-transcriptional-re-programming-of-syncytial-nuclei-in-developing-muscles
#15
Laetitia Bataillé, Hadi Boukhatmi, Jean-Louis Frendo, Alain Vincent
BACKGROUND: A stereotyped array of body wall muscles enables precision and stereotypy of animal movements. In Drosophila, each syncytial muscle forms via fusion of one founder cell (FC) with multiple fusion competent myoblasts (FCMs). The specific morphology of each muscle, i.e. distinctive shape, orientation, size and skeletal attachment sites, reflects the specific combination of identity transcription factors (iTFs) expressed by its FC. Here, we addressed three questions: Are FCM nuclei naive? What is the selectivity and temporal sequence of transcriptional reprogramming of FCMs recruited into growing syncytium? Is transcription of generic myogenic and identity realisation genes coordinated during muscle differentiation? RESULTS: The tracking of nuclei in developing muscles shows that FCM nuclei are competent to be transcriptionally reprogrammed to a given muscle identity, post fusion...
June 9, 2017: BMC Biology
https://www.readbyqxmd.com/read/28548707/phenotypes-and-genotypes-in-individuals-with-smc1a-variants
#16
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Alice Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valerie Cormier-Daire, Matthew A Deardorff, Karin Diderich, Mariet Elting, Anthonie van Essen, David FitzPatrick, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Katta M Girisha, Yvonne Hilhorst-Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Jo Moss, Sarah E Noon, Chris Oliver, Ilaria Parenti, Juan Pie, Feliciano J Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara L Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C Hennekam
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype...
May 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28541901/changes-of-shoulder-elbow-and-wrist-stiffness-matrix-post-stroke
#17
Li-Qun Zhang, Jongsang Son, Hyung-Soon Park, Sang Hoon Kang, Yunju Lee, Yupeng Ren
Stroke affects multiple joints in the arm with stereotypical patterns of arm deformity involving the shoulder, elbow, wrist, and hand and with disrupted coordination of multiple joints in active movements. However, there is a lack of systematic methods to evaluate multi-joints and multi-degree of freedoms (DOF) neuro-mechanical changes, especially for complex systems with three or more joints/DOFs involved. This paper used a novel systematic method to characterize dynamics and control of the shoulder, elbow, and wrist of the human arm individually and simultaneously, including the couplings across the multiple joints during controlled movements...
July 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28474792/molecular-stretching-modulates-mechanosensing-pathways
#18
REVIEW
Xian Hu, Felix Martin Margadant, Mingxi Yao, Michael Patrick Sheetz
For individual cells in tissues to create the diverse forms of biological organisms, it is necessary that they must reliably sense and generate the correct forces over the correct distances and directions. There is considerable evidence that the mechanical aspects of the cellular microenvironment provide critical physical parameters to be sensed. How proteins sense forces and cellular geometry to create the correct morphology is not understood in detail but protein unfolding appears to be a major component in force and displacement sensing...
July 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28472332/the-spectrum-of-rem-sleep-related-episodes-in-children-with-type-1-narcolepsy
#19
Elena Antelmi, Fabio Pizza, Stefano Vandi, Giulia Neccia, Raffaele Ferri, Oliviero Bruni, Marco Filardi, Gaetano Cantalupo, Rocco Liguori, Giuseppe Plazzi
Type 1 narcolepsy is a central hypersomnia due to the loss of hypocretin-producing neurons and characterized by cataplexy, excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. In children, close to the disease onset, type 1 narcolepsy has peculiar clinical features with severe cataplexy and a complex admixture of movement disorders occurring while awake. Motor dyscontrol during sleep has never been systematically investigated. Suspecting that abnormal motor control might affect also sleep, we systematically analysed motor events recorded by means of video polysomnography in 40 children with type 1 narcolepsy (20 females; mean age 11...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28459979/ocular-congenital-cranial-dysinnervation-disorders-ccdds-insights-into-axon-growth-and-guidance
#20
Mary C Whitman, Elizabeth C Engle
Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability...
April 28, 2017: Human Molecular Genetics
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