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screening motor development

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https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#1
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28098561/decoding-of-intended-saccade-direction-in-an-oculomotor-brain-computer-interface
#2
Nan Jia, Scott Brincat, Andrés Salazar-Gómez, Mikhail Panko, Frank Guenther, Earl Miller
OBJECTIVE: To date, invasive brain-computer interface (BCI) research has largely focused on replacing lost limb functions using signals from of hand/arm areas of motor cortex. However, the oculomotor system may be better suited to BCI applications involving rapid serial selection from spatial targets, such as choosing from a set of possible words displayed on a computer screen in an augmentative and alternative communication (AAC) application. Here we aimed to demonstrate the feasibility of a BCI utilizing the oculomotor system...
January 18, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28086958/biofeedback-interventions-for-people-with-cerebral-palsy-a-systematic-review-protocol
#3
Alexander MacIntosh, Nicolas Vignais, Elaine Biddiss
BACKGROUND: Cerebral palsy is a life-long disability that affects motor control and activities of daily living. Depending on the type of cerebral palsy, some individuals may have trouble performing tasks with one or both of their arms and/or legs. Different strategies exist to help develop motor capacity. Biofeedback therapy is a commonly applied rehabilitation strategy. In biofeedback therapy, information about the motor behavior while completing a task is given back to the individual to help improve their performance...
January 13, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28080262/processing-speed-test-validation-of-a-self-administered-ipad-%C3%A2-based-tool-for-screening-cognitive-dysfunction-in-a-clinic-setting
#4
Stephen M Rao, Genna Losinski, Lyla Mourany, David Schindler, Bernadett Mamone, Christine Reece, Danielle Kemeny, Sridar Narayanan, Deborah M Miller, Francois Bethoux, Robert A Bermel, Richard Rudick, Jay Alberts
BACKGROUND: Cognitive dysfunction is common in multiple sclerosis (MS) patients and has important consequences for daily activities, yet, unlike motor function, is not routinely assessed in the clinic setting. We developed the Processing Speed Test (PST), a self-administered iPad(®)-based tool to measure MS-related deficits in processing speed. OBJECTIVE: To determine whether the PST is valid for screening cognitive dysfunction by comparing it to the paper-and-pencil Symbol Digit Modalities Test (SDMT)...
January 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28078566/an-eye-tracking-controlled-neuropsychological-battery-for-cognitive-assessment-in-neurological-diseases
#5
Barbara Poletti, Laura Carelli, Federica Solca, Annalisa Lafronza, Elisa Pedroli, Andrea Faini, Stefano Zago, Nicola Ticozzi, Andrea Ciammola, Claudia Morelli, Paolo Meriggi, Pietro Cipresso, Dorothée Lulé, Albert C Ludolph, Giuseppe Riva, Vincenzo Silani
Traditional cognitive assessment in neurological conditions involving physical disability is often prevented by the presence of verbal-motor impairment; to date, an extensive motor-verbal-free neuropsychological battery is not available for such purposes. We adapted a set of neuropsychological tests, assessing language, attentional abilities, executive functions and social cognition, for eye-tracking (ET) control, and explored its feasibility in a sample of healthy participants. Thirty healthy subjects performed a neuropsychological assessment, using an ET-based neuropsychological battery, together with standard "paper and pencil" cognitive measures for frontal (Frontal Assessment Battery-FAB) and working memory abilities (Digit Sequencing Task) and for global cognitive efficiency (Montreal Cognitive Assessment-MoCA)...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#6
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
January 10, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28071977/effect-of-touch-screen-tablet-use-on-fine-motor-development-of-young-children
#7
Ling-Yi Lin, Rong-Ju Cherng, Yung-Jung Chen
AIM: To investigate the effects of touch-screen tablet use on the fine motor development of preschool children without developmental delay. METHODS: 40 children who used a touch-screen tablet more 60 minutes per week for at least 1 month received a 24-week home fine motor activity program using a touch-screen-tablet. 40 children matched for age (mean = 61.0 months) and sex who did not meet the criteria for previous tablet use received a 24-week program consisting of manual play activities...
January 10, 2017: Physical & Occupational Therapy in Pediatrics
https://www.readbyqxmd.com/read/28071825/systematic-review-of-severity-scales-and-screening-instruments-for-tics-critique-and-recommendations
#8
Davide Martino, Tamara M Pringsheim, Andrea E Cavanna, Carlo Colosimo, Andreas Hartmann, James F Leckman, Sheng Luo, Alexander Munchau, Christopher G Goetz, Glenn T Stebbins, Pablo Martinez-Martin
BACKGROUND: Several clinician, informant, and self-report instruments for tics and associated phenomena have been developed that differ in construct, comprehensiveness, and ease of administration. OBJECTIVE: A Movement Disorders Society subcommittee aimed to rate psychometric quality of severity and screening instruments for tics and related sensory phenomena. METHODS: Following the methodology adopted by previous Movement Disorders Society subcommittee papers, a review of severity and screening instruments for tics was completed, applying a classification as "recommended," "suggested," or "listed" to each instrument...
January 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28067083/-examination-of-psychomotor-development-in-relation-to-social-environmental-factors-in-preterm-children-at-2-years-old
#9
Flóra Kenyhercz, Beáta Nagy
INTRODUCTION: The development of children born prematurely is an important aspect in public health, because preterm birth rates are not decreasing with the development of medical sciences. AIM: Description of psychomotor development of preterm children related to potentially influencing environmental factors. METHOD: Children born below 2.500 grams at the age of two (n = 75). Psychomotor development, quality of home environment, socio-demographic background were measured...
January 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28062800/novel-allosteric-pathway-of-eg5-regulation-identified-through-multivariate-statistical-analysis-of-hx-ms-ligand-screening-data
#10
Joey G Sheff, Farshad Farshidfar, Oliver F Bathe, Karen Kopciuk, Francesco Gentile, Jack Tuszynski, Khaled Barakat, David C Schriemer
The mitotic kinesin Eg5 is an important target in cancer chemotherapy. A structurally diverse collection of canonical loop L5 inhibitors engage an allosteric pathway that includes elements of its microtubule binding region. However, recent evidence suggests that Eg5 may permit alternative allosteric mechanisms. Terpendole E, a natural-product Eg5 inhibitor, is active against mutants resistant to canonical loop L5 inhibitors and appears to offer a unique mode of inhibition. To investigate the variety of inhibitor responses, the structure-function properties of eighteen kinesin inhibitors were quantified with hydrogen-exchange mass spectrometry (HX-MS), functional analysis and molecular modeling...
January 5, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28062195/development-of-new-inhibitors-for-n-acylethanolamine-hydrolyzing-acid-amidase-as-promising-tool-against-bladder-cancer
#11
Riccardo Vago, Arianna Bettiga, Andrea Salonia, Pierangela Ciuffreda, Roberta Ottria
The endocannabinoid system is a signaling system involved in a wide range of biological effects. Literature strongly suggests the endocannabinoid system role in the pathogenesis of cancer and that its pharmacological activation produces therapeutic benefits. Last research promotes the endocannabinoid system modulation by inhibition of endocannabinoids hydrolytic enzymes instead of direct activation of endocannabinoid receptors to avoid detrimental effects on cognition and motor control. Here we report the identification of N-acylethanolamine-hydrolyzing acid amidase (NAAA) inhibitors able to reduce cell proliferation and migration and cause cell death on different bladder cancer cell lines...
December 27, 2016: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28046601/su-f-t-232-monthly-quality-assurance-in-external-beam-radiation-therapy-using-a-single-system
#12
K Ding, T Ji, I Iordachita, E Velarde, J Hyatt, J Wong
PURPOSE: Monthly quality assurance (QA) is time consuming for external beam radiation therapy, taking as long as 6-8 hours for each machine. It is due to the use and setup of multiple devices for different QA procedures. We have developed a single system with rotational capability for the measurement of both optical light and radiation which significantly reduces the time spent on Monthly QA. METHODS: A single system using mirrors, a phosphor screen and a CCD camera is housed on a cylindrical motor so that it can rotate 360 degrees...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28044047/parental-obesity-and-early-childhood-development
#13
Edwina H Yeung, Rajeshwari Sundaram, Akhgar Ghassabian, Yunlong Xie, Germaine Buck Louis
BACKGROUND: Previous studies identified associations between maternal obesity and childhood neurodevelopment, but few examined paternal obesity despite potentially distinct genetic/epigenetic effects related to developmental programming. METHODS: Upstate KIDS (2008-2010) recruited mothers from New York State (excluding New York City) at ∼4 months postpartum. Parents completed the Ages and Stages Questionnaire (ASQ) when their children were 4, 8, 12, 18, 24, 30, and 36 months of age corrected for gestation...
January 2, 2017: Pediatrics
https://www.readbyqxmd.com/read/28030538/gba-variants-influence-motor-and-non-motor-features-of-parkinson-s-disease
#14
Silvia Jesús, Ismael Huertas, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, María Teresa Cáceres-Redondo, Laura Vargas-González, Myriam Gómez-Llamas, Fátima Carrillo, Enrique Calderón, Manuel Carballo, Pilar Gómez-Garre, Pablo Mir
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression...
2016: PloS One
https://www.readbyqxmd.com/read/28026041/emerging-therapies-and-challenges-in-spinal-muscular-atrophy
#15
REVIEW
Michelle A Farrar, Susanna B Park, Steve Vucic, Kate A Carey, Bradley J Turner, Thomas H Gillingwater, Kathryn J Swoboda, Matthew C Kiernan
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity ranging from progressive infantile paralysis and premature death (Type I) to limited motor neuron loss and normal life expectancy (Type IV). Without disease-modifying therapies, the impact is profound for patients and their families. Improved understanding of the molecular basis of SMA, disease pathogenesis, natural history and recognition of the impact of standardized care on outcomes has yielded progress towards the development of novel therapeutic strategies and are summarised...
December 27, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28006827/an-automated-image-analysis-system-to-quantify-endosomal-tubulation
#16
Timothy M Newton, Evan Reid
Recycling of cargos from early endosomes requires regulation of endosomal tubule formation and fission. This regulation is disrupted in cells depleted of the microtubule severing enzyme spastin, causing elongation of endosomal tubules and mis-trafficking of recycling endosomal cargos such as the transferrin receptor. Spastin is encoded by SPAST, mutations in which are the most frequent cause of autosomal dominant hereditary spastic paraplegia, a condition characterised by a progressive loss of lower limb function resulting from upper motor neuron axonopathy...
2016: PloS One
https://www.readbyqxmd.com/read/28005729/assessment-of-deformational-plagiocephaly-severity-and-neonatal-developmental-delay
#17
Stefani C Fontana, Debora Daniels, Thomas Greaves, Niaman Nazir, Jeff Searl, Brian T Andrews
Deformational plagiocephaly (DP) in infants has been associated with developmental delay that can last until adolescence. Despite this association and a 5-fold increase in incidence of DP over the past 2 decades, there are currently no guidelines regarding screening for developmental delay or identification of which infants with DP are at the greatest risk of delay. A prospective, nonrandomized study was performed. Infants diagnosed with DP who had no prior intervention were eligible for enrollment. Cranial deformity was measured by cross-cranial measurements using calipers, and developmental delay was measured using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27996970/a-new-mouse-model-of-adhd-for-medication-development
#18
Petra Majdak, John R Ossyra, Jessica M Ossyra, Adam J Cobert, Gabrielle C Hofmann, Stephen Tse, Brent Panozzo, Elizabeth L Grogan, Anastassia Sorokina, Justin S Rhodes
ADHD is a major societal problem with increasing incidence and a stagnant track record for treatment advances. A lack of appropriate animal models has partly contributed to the incremental advance of this field. Hence, our goal was to generate a novel mouse model that could be useful for ADHD medication development. We reasoned that hyperactivity is a core feature of ADHD that could easily be bred into a population, but to what extent other hallmark features of ADHD would appear as correlated responses was unknown...
December 20, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27977516/considerations-for-the-selection-of-time-limited-walk-tests-poststroke-a-systematic-review-of-test-protocols-and-measurement-properties
#19
Nancy M Salbach, Kelly K OʼBrien, Dina Brooks, Emma Irvin, Rosemary Martino, Pam Takhar, Sylvia Chan, Jo-Anne Howe
BACKGROUND AND PURPOSE: Systematic reviews of research evidence describing the quality and methods for administering standardized outcome measures are essential to developing recommendations for their clinical application. The purpose of this systematic review was to synthesize the research literature describing test protocols and measurement properties of time-limited walk tests in people poststroke. METHODS: Following an electronic search of 7 bibliographic data-bases, 2 authors independently screened titles and abstracts...
January 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/27957719/development-of-improved-hdac6-inhibitors-as-pharmacological-therapy-for-axonal-charcot-marie-tooth-disease
#20
Veronick Benoy, Pieter Vanden Berghe, Matthew Jarpe, Philip Van Damme, Wim Robberecht, Ludo Van Den Bosch
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy, with an estimated prevalence of 1 in 2500. The degeneration of motor and sensory nerve axons leads to motor and sensory symptoms that progress over time and have an important impact on the daily life of these patients. Currently, there is no curative treatment available. Recently, we identified histone deacetylase 6 (HDAC6), which deacetylates α-tubulin, as a potential therapeutic target in axonal CMT (CMT2). Pharmacological inhibition of the deacetylating function of HDAC6 reversed the motor and sensory deficits in a mouse model for mutant "small heat shock protein B1" (HSPB1)-induced CMT2 at the behavioral and electrophysiological level...
December 12, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
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