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https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#1
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29223349/the-effect-of-cerebellar-transcranial-direct-current-stimulation-on-a-throwing-task-depends-on-individual-level-of-task-performance
#2
Nobuaki Mizuguchi, Takashi Katayama, Kazuyuki Kanosue
The effect of cerebellar transcranial direct current stimulation (tDCS) on motor performance remains controversial. Some studies suggest that the effect of tDCS depends upon task-difficulty and individual level of task performance. Here, we investigated whether the effect of cerebellar tDCS on the motor performance depends upon the individual's level of performance. Twenty-four naïve participants practiced dart throwing while receiving 2mA-cerebellar tDCS for 20min under three stimulus conditions (anodal-, cathodal-, and sham-tDCS) on separate days with a double-blind, counter-balanced cross-over design...
December 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/29223033/the-mediating-role-of-cognitive-ability-on-the-relationship-between-motor-proficiency-and-early-academic-achievement-in-children
#3
Geneviève Cadoret, Nathalie Bigras, Stéphanie Duval, Lise Lemay, Tania Tremblay, Julie Lemire
The aim of this study was to examine the relationship between motor proficiency and academic achievement in 7 years-old children. A mediating model in which the relation between motor proficiency and academic achievement is mediated by cognitive ability was tested. Participants included 152 children from the longitudinal study Jeunes enfants et leurs milieux de vie (Young Children and their Environments). Motor proficiency was evaluated with the Bruininks-Oseretsky Test of Motor Proficiency (BOT2), cognitive ability with the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) and academic achievement with the Wechsler Individual Achievement Test II (WIAT II)...
December 6, 2017: Human Movement Science
https://www.readbyqxmd.com/read/29222073/the-functional-impairments-in-a-patient-with-morvan-s-syndrome-a-case-report
#4
Stephanie Tow, Desi Carozza, Kim Barker
A 48 year-old man with lung squamous cell carcinoma was admitted to acute care with cognitive impairment after recent chemotherapy. He developed myoclonus, ataxia, agitation, and visual hallucinations. Morvan's Syndrome, a rare voltage-gated potassium channel antibody disorder characterized by neuromyotonia with central nervous system dysfunction, was eventually diagnosed. He received plasmapheresis and was admitted to inpatient rehabilitation, where he safely participated in therapies. By focusing on neuromuscular rehabilitation, balance training, fine motor skills, and cognitive retraining emphasizing skills relevant to the patient's premorbid cognitive activities, the patient demonstrated significant functional improvement, decreasing the burden of care of his caregivers...
December 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29221774/sleep-dependent-motor-sequence-memory-consolidation-in-individuals-with-periodic-limb-movements
#5
Valya Sergeeva, Jeremy Viczko, Laura B Ray, Adrian M Owen, Stuart M Fogel
Periodic limb movements (PLMs) during sleep increase with age and are associated with striatal neurodegeneration and dopamine deficiency. Limb movements are often associated with disruptions to non-rapid eye movement (NREM) sleep. Motor skill memory consolidation recruits the striatum, and learning-dependent striatal activation is associated with NREM sleep. Therefore, we investigated whether de novo individuals who significantly experience elevated levels of PLMs but have not been formally diagnosed with periodic limb movement disorder had learning and sleep-related memory deficits and whether these deficits were related to sleep quality and symptom severity...
December 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29219877/effectiveness-of-robotic-assisted-rehabilitation-for-mobility-and-functional-ability-in-adult-stroke-patients-a-systematic-review
#6
Kenneth Lo, Matthew Stephenson, Craig Lockwood
BACKGROUND: Stroke is a leading cause of long-term disability, and rehabilitation, involving repetitive, high intensity, task-specific exercises, is the pathway to restoring motor skills. Robotic assistive devices are increasingly being used and it is hoped that with robotic devices, rehabilitation progress can be achieved for patients. OBJECTIVES: To examine the effectiveness of robotic devices in the rehabilitation of stroke patients for upper limb mobility, lower limb mobility, and activities of daily living...
December 2017: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/29216384/evaluating-smartphone-based-virtual-reality-to-improve-chinese-schoolchildren-s-pedestrian-safety-a-nonrandomized-trial
#7
David C Schwebel, Yue Wu, Peng Li, Joan Severson, Yefei He, Henry Xiang, Guoqing Hu
Objective: This nonrandomized trial evaluated whether classroom-based training in a smartphone-based virtual reality (VR) pedestrian environment (a) teaches schoolchildren to cross streets safely, and (b) increases their self-efficacy for street-crossing. Methods: Fifty-six children, aged 8-10 years, attending primary school in Changsha, China participated. Baseline pedestrian safety assessment occurred in the VR environment and through unobtrusive observation of a subsample crossing a street for 11 days outside school...
December 5, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29214414/understanding-the-need-for-assistance-with-survey-completion-in-people-with-huntington-disease
#8
Elizabeth A Hahn, Nancy R Downing, Julie C Stout, Jane S Paulsen, Becky Ready, Siera Goodnight, Jin-Shei Lai, Jennifer A Miner, Noelle E Carlozzi
PURPOSE: In Huntington disease (HD), motor, cognitive, and psychiatric changes can have a detrimental impact on health-related quality of life (HRQOL). The purpose of this paper is to describe the extent and type of assistance needed to complete online HRQOL surveys, and the impact of assistance on HRQOL scores. METHODS: A patient-reported outcome measurement system was developed for HD-specific HRQOL. Individuals across the prodromal and diagnosed disease severity spectrum (n = 532) completed surveys by computer, and reported the amount and type of assistance they received...
December 6, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29213525/motor-learning-characterization-in-people-with-autism-spectrum-disorder-a-systematic-review
#9
Íbis Ariana Peña de Moraes, Thais Massetti, Tânia Brusque Crocetta, Talita Dias da Silva, Lilian Del Ciello de Menezes, Carlos Bandeira de Mello Monteiro, Fernando Henrique Magalhães
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder primarily characterized by deficits in social interaction, communication and implicit skill learning. OBJECTIVE: To analyse the results of research on "motor learning" and the means used for measuring "autistic disorder". METHODS: A systematic literature search was done using Medline/PubMed, Web of Science, BVS (virtual health library), and PsycINFO. We included articles that contained the keywords "autism" and "motor learning"...
July 2017: Dementia & Neuropsychologia
https://www.readbyqxmd.com/read/29213235/changes-in-predictive-task-switching-with-age-and-with-cognitive-load
#10
Shelly Levy-Tzedek
Predictive control of movement is more efficient than feedback-based control, and is an important skill in everyday life. We tested whether the ability to predictively control movements of the upper arm is affected by age and by cognitive load. A total of 63 participants were tested in two experiments. In both experiments participants were seated, and controlled a cursor on a computer screen by flexing and extending their dominant arm. In Experiment 1, 20 young adults and 20 older adults were asked to continuously change the frequency of their horizontal arm movements, with the goal of inducing an abrupt switch between discrete movements (at low frequencies) and rhythmic movements (at high frequencies)...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29213051/a-robot-aided-visuo-motor-training-that-improves-proprioception-and-spatial-accuracy-of-untrained-movement
#11
Naveen Elangovan, Leonardo Cappello, Lorenzo Masia, Joshua Aman, Jürgen Konczak
Proprioceptive function can become enhanced during motor learning. Yet, we have incomplete knowledge to what extent proprioceptive function is trainable and how a training that enhances proprioception may influence performance in untrained motor skills. To address this knowledge gap, healthy young adults (N = 14) trained in a visuomotor task that required learners to make increasingly accurate wrist movements. Using a robotic exoskeleton coupled with a virtual visual environment, participants tilted a virtual table through continuous wrist flexion/extension movements with the goal to position a rolling ball on table into a target...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29210956/motor-skills-of-obese-and-severely-obese-children-and-adolescents-a-circuit-study
#12
Anna-Luisa Häcker, Jean-Luc Bigras, Mélanie Henderson, Tracie A Barnett, Marie-Eve Mathieu
During childhood, excessive weight is negatively associated with the development of motor skills, with children with overweight or obesity having poorer motor skills compared to children with normal weight. The objectives of the current study are to identify the differences in motor skills between children and adolescent with obesity and severe obesity and the extent of this difference. To do so, we examined cross-sectionally 165 subjects. Physical fitness was analyzed in both participants with obesity (>97-99...
November 27, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/29210605/cognitive-and-behaviour-profiles-of-children-with-mucopolysaccharidosis-type-ii
#13
Louise Crowe, Joy Yaplito-Lee, Vicki Anderson, Heidi Peters
Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS II but few studies are available that provide comprehensive cognitive profiles. Enzyme replacement therapy (ERT) can stabilize physical symptoms and has become standard treatment...
September 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29209181/the-agent-brain-a-review-of-non-invasive-brain-stimulation-studies-on-sensing-agency
#14
REVIEW
Davide Crivelli, Michela Balconi
According to philosophy of mind and neuroscientific models, the sense of agency can be defined as the sense that I am the one that is generating an action and causing its effects. Such ability to sense ourselves as causal agents is critical for the definition of intentional behavior and is a primary root for human interaction skills. The present mini-review aims at discussing evidences from non-invasive brain stimulation (NIBS) studies targeting functional correlates of different aspects of agency and evidences on the way stimulation techniques affect such core feature of human subjective experience...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29205624/fundamental-movement-skills-and-balance-of-children-with-down-syndrome
#15
C M Capio, T C T Mak, M A Tse, R S W Masters
BACKGROUND: Conclusive evidence supports the importance of fundamental movement skills (FMS) proficiency in promoting physical activity and countering obesity. In children with Down Syndrome (DS), FMS development is delayed, which has been suggested to be associated with balance deficits. This study therefore examined the relationship between FMS proficiency and balance ability in children with DS, with the aim of contributing evidence to programmes that address FMS delay. METHODS: Participants consisted of 20 children with DS (7...
December 5, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29204496/comparison-of-postarthroplasty-functional-outcomes-in-skilled-nursing-facilities-among-medicare-and-managed-care-beneficiaries
#16
Brandon A Haghverdian, David J Wright, Ran Schwarzkopf
Background: After home health care, the skilled nursing facility (SNF) is the most commonly used postacute care modality, among Medicare beneficiaries, after total joint arthroplasty. Prior studies demonstrated that a loss in postsurgical ambulatory gains is incurred in the interval between hospital discharge and arrival at the SNF. The aim of this present study is to determine the consequences of that loss in function, as well as compare SNF-related outcomes in patients with Medicare vs Managed Care (MC) insurance...
December 2017: Arthroplasty Today
https://www.readbyqxmd.com/read/29204259/early-development-of-infants-with-neurofibromatosis-type-1-a-case-series
#17
Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman, Mark Henry Johnson
Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29201831/an-infantile-case-of-sandhoff-disease-presenting-with-swallowing-difficulty
#18
Jae-Gun Moon, Min-A Shin, Hannah Pyo, Seong-Uk Choi, Hyun-Kyung Kim
Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed signs of aspiration at 20 months of age. The major problems related to dysphagia were oromotor dysfunction and abnormal feeding posture...
October 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29199566/clinical-effects-of-a-commercial-supplement-of-ophiocordyceps-sinensis-and-ganoderma-lucidum-on-cognitive-function-of-healthy-young-volunteers
#19
Sharon Tsuk, Yarden Har Lev, Arie Rotstein, Rafi Carasso, Aviva Zeev, Yael Netz, Tzvi Dwolatski, Gilit Steiner
Ophiocordyceps sinensis (= Cordyceps sinensis) and Ganoderma lucidum are medicinal mushrooms used in traditional Chinese medicine. The effects of O. sinensis and G. lucidum on cognitive function have been evaluated through the use of animal models and in vitro studies, which indicated beneficial effects. The purpose of this study was to evaluate the effects of treatment with a commercially available supplement of O. sinensis and G. lucidum on cognitive function in young, healthy human participants. Physical education students (n = 96 [53 men, 43 women]; mean ± standard deviation age, 26...
2017: International Journal of Medicinal Mushrooms
https://www.readbyqxmd.com/read/29198891/observing-the-advanced-disease-course-in-mucopolysaccharidosis-type-iiia-a-case-series
#20
Elsa Shapiro, Alia Ahmed, Chester Whitley, Kathleen Delaney
This follow-up study of a subgroup of the patients seen in a natural history study of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A) addressed the adaptive and medical characteristics of their advanced disease manifestations. Of the original 24 patients, specific data was collected on only 58% primarily due to difficulty in locating families and coordinating time for interviews two to four years after the original study. At the last contact with the patient, age range was 8 to 24years of age. Data were collected from telephone interviews from the Vineland Adaptive Behavior Scales II and medical and treatment history...
November 28, 2017: Molecular Genetics and Metabolism
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