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https://www.readbyqxmd.com/read/28424901/driving-with-a-neurodegenerative-disorder-an-overview-of-the-current-literature
#1
REVIEW
Milou Jacobs, Ellen P Hart, Raymund A C Roos
Driving is important for employment, social activities, and for the feeling of independence. The decision to cease driving affects the quality of life and has been associated with reduced mobility, social isolation, and sadness. Patients with neurodegenerative disorders can experience difficulties while driving due to their cognitive, motor, and behavioral impairments. The aim of this review is to summarize the available literature on changes in driving competence and behavior in patients with neurodegenerative disorders, with a particular focus on Huntington's (HD), Parkinson's (PD), and Alzheimer's disease (AD)...
April 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28418523/neurocognitive-trajectory-of-boys-who-received-a-hematopoietic-stem-cell-transplant-at-an-early-stage-of-childhood-cerebral-adrenoleukodystrophy
#2
Elizabeth I Pierpont, Julie B Eisengart, Ryan Shanley, David Nascene, Gerald V Raymond, Elsa G Shapiro, Rich S Ziegler, Paul J Orchard, Weston P Miller
Importance: Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease associated with progressive cerebral demyelination and rapid, devastating neurologic decline. The standard of care to enhance long-term survival and stabilize cerebral disease is a hematopoietic stem cell transplant (HSCT). Neurologic outcomes are better when HSCT occurs at an earlier stage of cALD, yet there is limited understanding of the neurocognitive trajectory of patients who undergo HSCT. Objectives: To characterize neurocognitive outcomes of boys with cALD and early-stage cerebral disease who were treated with an allogeneic HSCT and to identify disease- and treatment-related factors associated with long-term functioning...
April 17, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28418261/preschool-children-s-communication-motor-and-social-development-parents-and-educators-concerns
#3
Sharynne McLeod, Kathryn Crowe, Jane McCormack, Paul White, Yvonne Wren, Elise Baker, Sarah Masso, Sue Roulstone
PURPOSE: During early childhood, it is important to identify which children require intervention before they face the increased demands of school. This study aimed to: (1) compare parents' and educators' concerns, (2) examine inter-rater reliability between parents' and educators' concerns and (3) determine the group difference between level of concern and children's performance on clinical testing. METHOD: Parents and educators of 1205 4- to 5-year-old children in the Sound Start Study completed the Parents' Evaluation of Developmental Status...
April 18, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28408725/screening-for-developmental-delay-in-preschool-aged-children-using-parent-completed-ages-and-stages-questionnaires-additional-insights-into-child-development
#4
Soheir S Abo El Elella, Maha A M Tawfik, Wafaa Moustafa M Abo El Fotoh, Naglaa Fathy Barseem
BACKGROUND: Developmental delay is a delay in areas of speech, language, motor, social and cognitive development. Because of the negative impact of intellectual and learning disabilities, early identification of children with developmental and behavioral problems using appropriate screening tests is crucial. OBJECTIVES: Utilization of parent-completed Ages and Stages Questionnaires (ASQs) for detecting the developmental delay in preschool age children and clarification of possible associated risk factors...
April 13, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28405024/antisense-oligonucleotide-therapy-for-spinocerebellar-ataxia-type-2
#5
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis, Stefan M Pulst
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease. Both models recreate the progressive adult-onset dysfunction and degeneration of a neuronal network that are seen in patients, including decreased firing frequency of cerebellar Purkinje cells and a decline in motor function. We developed a potential therapy directed at the ATXN2 gene by screening 152 antisense oligonucleotides (ASOs)...
April 20, 2017: Nature
https://www.readbyqxmd.com/read/28398175/interactive-design-of-patient-oriented-video-games-for-rehabilitation-concept-and-application
#6
Giorgia Lupinacci, Gianluca Gatti, Corrado Melegari, Saverio Fontana
PURPOSE: Serious video-games are innovative tools used to train the motor skills of subjects affected by neurological disorders. They are often developed to train a specific type of patients and the rules of the game are standardly defined. A system that allows the therapist to design highly patient-oriented video-games, without specific informatics skills, is proposed. METHOD: The system consists of one personal computer, two screens, a Kinect™ sensor and a specific software developed here for the design of the video-games...
April 11, 2017: Disability and Rehabilitation. Assistive Technology
https://www.readbyqxmd.com/read/28387548/review-of-vestibular-and-oculomotor-screening-and-concussion-rehabilitation
#7
Anthony P Kontos, Jamie McAllister Deitrick, Michael W Collins, Anne Mucha
Vestibular and oculomotor impairment and symptoms may be associated with worse outcomes after sport-related concussion (SRC), including prolonged recovery. In this review, we evaluate current findings on vestibular and oculomotor impairments as well as treatment approaches after SRC, and we highlight areas in which investigation is needed. Clinical researchers have intimated that recovery from SRC may follow certain clinical profiles that affect the vestibular and oculomotor pathways. Identifying clinical profiles may help to inform better treatment and earlier intervention to reduce recovery time after SRC...
March 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28376931/developmental-screening-in-children-with-chd-ages-and-stages-questionnaires
#8
Maia M Noeder, Beth A Logan, Kari L Struemph, Nancy Condon, Isabel Mueller, Barbara Sands, Ryan R Davies, Erica Sood
OBJECTIVE: Standardised developmental screening tools are important for the evaluation and management of developmental disorders in children with CHD; however, psychometric properties and clinical utility of screening tools, such as the Ages & Stages Questionnaires, Third Edition (ASQ-3), have not been examined in the CHD population. We hypothesised that the ASQ-3 would be clinically useful for this population. Study design ASQ-3 developmental classifications for 163 children with CHD at 6, 12, 24, and/or 36 months of age were compared with those obtained from concurrent developmental testing with the Bayley Scales of Infant and Toddler Development, Third Edition...
April 5, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28374019/cntnap1-mutations-cause-cns-hypomyelination-and-neuropathy-with-or-without-arthrogryposis
#9
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier, Mohammad Abu-Rashid, Jamal Mahamid, Rebecca Schüle, Martin Schulze, Ingeborg Krägeloh-Mann, Peter Bauer, Stephan Züchner, Rajech Sharkia, Ludger Schöls
OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further CNTNAP1 mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28373024/a-rapid-chemical-genetic-screen-utilizing-impaired-movement-phenotypes-in-c-elegans-input-into-genetics-of-neurodevelopmental-disorders
#10
Kathrin Schmeisser, Yasmin Fardghassemi, J Alex Parker
Autism spectrum disorder (ASD) is the most common neurodevelopmental disorder with a constantly increasing prevalence. Model organisms may be tools to identify underlying cellular and molecular mechanisms, as well as aid the discovery and development of novel therapeutic approaches. A simple animal such as the nematode Caenorhabditis elegans may provide insights into the extreme complexity of ASD genetics. Despite its potential, using C. elegans in ASD research is a controversial approach and has not yet been used extensively in this context...
April 1, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28370517/the-prodromal-phase-of-leucine-rich-repeat-kinase-2-associated-parkinson-disease-clinical-and-imaging-studies
#11
Claustre Pont-Sunyer, Eduardo Tolosa, Chelsea Caspell-Garcia, Christopher Coffey, Roy N Alcalay, Piu Chan, John E Duda, Maurizio Facheris, Rubén Fernández-Santiago, Kenneth Marek, Francisco Lomeña, Connie Marras, Elisabet Mondragon, Rachel Saunders-Pullman, Bjorg Waro
BACKGROUND: Asymptomatic, nonmanifesting carriers of leucine-rich repeat kinase 2 mutations are at increased risk of developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or may demarcate individuals at greater risk for phenoconversion to PD. OBJECTIVES: To investigate clinical and dopamine transporter single-photon emission computed tomography imaging characteristics of leucine-rich repeat kinase 2 asymptomatic carriers. METHODS: A total of 342 carriers' and 259 noncarriers' relatives of G2019S leucine-rich repeat kinase 2/PD patients and 39 carriers' and 31 noncarriers' relatives of R1441G leucine-rich repeat kinase 2/PD patients were evaluated...
March 28, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28369434/social-skills-in-youth-with-spina-bifida-a-longitudinal-multimethod-investigation-comparing-biopsychosocial-predictors
#12
Christina E Holbein, James L Peugh, Grayson N Holmbeck
To examine the relative contributions of neuropsychological (attention and executive function), family (cohesion and conflict), and health (body mass index, lesion level, gross motor function) domains on social skills over time in youth with spina bifida (SB). In all, 140 youth with SB (T1 mean age = 11.43 years) and their families participated in the study at baseline with an additional visit 2 years later. Study variables were assessed with multiple methods (questionnaire, medical chart review, observation, neuropsychological tests) and reporters (parents, teachers)...
March 24, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28362900/the-davida-teller-award-lecture-2016-visual-brain-development-a-review-of-dorsal-stream-vulnerability-motion-mathematics-amblyopia-actions-and-attention
#13
Janette Atkinson
Research in the Visual Development Unit on "dorsal stream vulnerability' (DSV) arose from research in two somewhat different areas. In the first, using cortical milestones for local and global processing from our neurobiological model, we identified cerebral visual impairment in infants in the first year of life. In the second, using photo/videorefraction in population refractive screening programs, we showed that infant spectacle wear could reduce the incidence of strabismus and amblyopia, but many preschool children, who had been significantly hyperopic earlier, showed visuo-motor and attentional deficits...
March 1, 2017: Journal of Vision
https://www.readbyqxmd.com/read/28360874/online-control-of-prehension-predicts-performance-on-a-standardized-motor-assessment-test-in-8-to-12-year-old-children
#14
Caroline C V Blanchard, Hannah L McGlashan, Blandine French, Rachel J Sperring, Bianca Petrocochino, Nicholas P Holmes
Goal-directed hand movements are guided by sensory information and may be adjusted 'online,' during the movement. If the target of a movement unexpectedly changes position, trajectory corrections can be initiated in as little as 100 ms in adults. This rapid visual online control is impaired in children with developmental coordination disorder (DCD), and potentially in other neurodevelopmental conditions. We investigated the visual control of hand movements in children in a 'center-out' double-step reaching and grasping task, and examined how parameters of this visuomotor control co-vary with performance on standardized motor tests often used with typically and atypically developing children...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28360239/instruments-measuring-the-disease-specific-quality-of-life-of-family-carers-of-people-with-neurodegenerative-diseases-a-systematic-review
#15
Thomas E Page, Nicolas Farina, Anna Brown, Stephanie Daley, Ann Bowling, Thurstine Basset, Gill Livingston, Martin Knapp, Joanna Murray, Sube Banerjee
OBJECTIVE: Neurodegenerative diseases, such as dementia, have a profound impact on those with the conditions and their family carers. Consequently, the accurate measurement of family carers' quality of life (QOL) is important. Generic measures may miss key elements of the impact of these conditions, so using disease-specific instruments has been advocated. This systematic review aimed to identify and examine the psychometric properties of disease-specific outcome measures of QOL of family carers of people with neurodegenerative diseases (Alzheimer's disease and other dementias; Huntington's disease; Parkinson's disease; multiple sclerosis; and motor neuron disease)...
March 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28355588/dihydropyrazole-and-dihydropyrrole-structures-based-design-of-kif15-inhibitors-as-novel-therapeutic-agents-for-cancer
#16
Jomon Sebastian
Mitotic Kinesin motors, Eg5 and Kif15, have recently emerged as good targets for cancer as they play an inevitable role during mitosis. But, most of the Eg5 inhibitors were found ineffective when the cancer cells develop resistance to them by escalating the expression of Kif15 as alternative to Eg5. Therefore, the drugs that target Kif15 became necessary to be used either as a single or in combination with Eg5 inhibitors. The present study used 39 dihydropyrazole and 13 dihydropyrrole derivatives that were having in vitro inhibitory potential against kinesin motors to develop a common pharmacophore hypothesis AHRR and atom-based QSAR model...
March 12, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28327533/flexible-piezoresistive-sensors-embedded-in-3d-printed-tires
#17
Md Omar Faruk Emon, Jae-Won Choi
In this article, we report the development of a flexible, 3D printable piezoresistive pressure sensor capable of measuring force and detecting the location of the force. The multilayer sensor comprises of an ionic liquid-based piezoresistive intermediate layer in between carbon nanotube (CNT)-based stretchable electrodes. A sensor containing an array of different sensing units was embedded on the inner liner surface of a 3D printed tire to provide with force information at different points of contact between the tire and road...
March 22, 2017: Sensors
https://www.readbyqxmd.com/read/28315465/early-preclinical-evaluation-of-dihydropyrimidin-thi-ones-as-potential-anticonvulsant-drug-candidates
#18
Mariana Matias, Gonçalo Campos, Samuel Silvestre, Amílcar Falcão, Gilberto Alves
Although significant advances are occurring in epilepsy research, about 30% of epileptic patients are still inadequately controlled by standard drug therapy. For this reason, it continues to be important to develop new chemical entities through which epilepsy could be effectively controlled. In this study, the anticonvulsant activity of forty-two dihydropyrimidin(thi)ones was explored and their efficacy was evaluated in rodents against the maximal electroshock seizure (MES) and subcutaneous pentylenetetrazole tests...
March 15, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28315072/direct-myosin-activation-by-omecamtiv-mecarbil-for-heart-failure-with-reduced-ejection-fraction
#19
Mitchell A Psotka, John R Teerlink
Myosin is the indispensable molecular motor that utilizes chemical energy to produce force for contraction within the cardiac myocyte. Myosin activity is gated by intracellular calcium levels which are regulated by multiple upstream signaling cascades that can be altered for clinical utility using inotropic medications. In contrast to clinically available cardiac inotropes, omecamtiv mecarbil is a novel direct myosin activator developed to augment left ventricular systolic function without the undesirable secondary effects of altered calcium homeostasis...
March 18, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28302159/a-data-driven-approach-links-microglia-to-pathology-and-prognosis-in-amyotrophic-lateral-sclerosis
#20
Johnathan Cooper-Knock, Claire Green, Gabriel Altschuler, Wenbin Wei, Joanna J Bury, Paul R Heath, Matthew Wyles, Catherine Gelsthorpe, J Robin Highley, Alejandro Lorente-Pons, Tim Beck, Kathryn Doyle, Karel Otero, Bryan Traynor, Janine Kirby, Pamela J Shaw, Winston Hide
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that lacks a predictive and broadly applicable biomarker. Continued focus on mutation-specific upstream mechanisms has yet to predict disease progression in the clinic. Utilising cellular pathology common to the majority of ALS patients, we implemented an objective transcriptome-driven approach to develop noninvasive prognostic biomarkers for disease progression. Genes expressed in laser captured motor neurons in direct correlation (Spearman rank correlation, p < 0...
March 16, 2017: Acta Neuropathologica Communications
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