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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29138362/infant-neuromotor-development-and-childhood-problem-behavior
#2
Fadila Serdarevic, Akhgar Ghassabian, Tamara van Batenburg-Eddes, Emin Tahirovic, Tonya White, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier
BACKGROUND: Research of adults and school-aged children suggest a neurodevelopmental basis for psychiatric disorders. We examined whether infant neuromotor development predicted internalizing and externalizing problems in young children. METHODS: In Generation R, a population-based cohort in the Netherlands (2002-2006), trained research assistants evaluated the neuromotor development of 4006 infants aged 2 to 5 months by using an adapted version of Touwen's Neurodevelopmental Examination (tone, responses, and senses and other observations)...
November 14, 2017: Pediatrics
https://www.readbyqxmd.com/read/29117651/comparison-of-psychomotor-development-screening-test-and-clinical-assessment-of-psychomotor-development
#3
Goranka Radmilović, Valentina Matijević, Iris Zavoreo
Numerous adverse factors are acting in the prenatal, perinatal and postnatal period of life and may be the cause of later mild or severe deviations from normal psychomotor development. Therefore, it is crucial to identify infants with neurological risk factors and infants that already have a delay from orderly development, in order to immediately initiate the rehabilitation process. The aim of this study was to determine whether there is difference in the assessment of psychomotor development in neurological risk children based on the psychomotor development test (Croatian, Razvoj psihomotorike, RPM test) and clinical evaluation of neuromotor development...
December 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29117282/association-of-genetic-risk-for-schizophrenia-and-bipolar-disorder-with-infant-neuromotor-development
#4
Fadila Serdarevic, Philip R Jansen, Akhgar Ghassabian, Tonya White, Vincent W V Jaddoe, Danielle Posthuma, Henning Tiemeier
No abstract text is available yet for this article.
November 8, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/29064100/gait-performance-measures-for-children-with-neuromotor-disorders-in-inpatient-rehabilitation
#5
Jill Rodda
No abstract text is available yet for this article.
November 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29025283/translation-reliability-and-clinical-utility-of-the-melbourne-assessment-2
#6
Corinna N Gerber, Anael Plebani, Rob Labruyère
OBJECTIVE: The aims were to (i) provide a German translation of the Melbourne Assessment 2 (MA2), a quantitative test to measure unilateral upper limb function in children with neurological disabilities and (ii) to evaluate its reliability and aspects of clinical utility. METHODS: After its translation into German and approval of the back translation by the original authors, the MA2 was performed and videotaped twice with 30 children with neuromotor disorders. For each participant, two raters scored the video of the first test for inter-rater reliability...
October 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28993630/%C3%AE-synuclein-impairs-ferritinophagy-in-the-retinal-pigment-epithelium-implications-for-retinal-iron-dyshomeostasis-in-parkinson-s-disease
#7
Shounak Baksi, Neena Singh
Retinal degeneration is prominent in Parkinson's disease (PD), a neuromotor disorder associated with aggregation of α-synuclein (α-syn) in the substantia-nigra (SN). Although α-syn is expressed in the neuroretina, absence of prominent aggregates suggests altered function as the likely cause of retinal pathology. We demonstrate that α-syn impairs ferritinophagy, resulting in the accumulation of iron-rich ferritin in the outer retina in-vivo and retinal-pigment-epithelial (RPE) cells in-vitro. Over-expression of Rab1a restores ferritinophagy, suggesting that α-syn impairs lysosomal function by disrupting the trafficking of lysosomal hydrolases...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28934247/the-extent-of-intrauterine-growth-restriction-determines-the-severity-of-cerebral-injury-and-neurobehavioural-deficits-in-rodents
#8
Crystal A Ruff, Stuart D Faulkner, Prakasham Rumajogee, Stephanie Beldick, Warren Foltz, Jennifer Corrigan, Alfred Basilious, Shangjun Jiang, Shanojan Thiyagalingam, Jerome Y Yager, Michael G Fehlings
BACKGROUND: Cerebral Palsy (CP) is the most common physical pediatric neurodevelopmental disorder and spastic diplegic injury is its most frequent subtype. CP results in substantial neuromotor and cognitive impairments that have significant socioeconomic impact. Despite this, its underlying pathophysiological mechanisms and etiology remain incompletely understood. Furthermore, there is a need for clinically relevant injury models, which a) reflect the heterogeneity of the condition and b) can be used to evaluate new translational therapies...
2017: PloS One
https://www.readbyqxmd.com/read/28884947/confirmation-of-an-arid2-defect-in-swi-snf-related-intellectual-disability
#9
Ruben Van Paemel, Pauline De Bruyne, Saskia van der Straaten, Marleen D'hondt, Urlien Fränkel, Annelies Dheedene, Björn Menten, Bert Callewaert
We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28883096/cog7-deficiency-in-drosophila-generates-multifaceted-developmental-behavioral-and-protein-glycosylation-phenotypes
#10
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Sarah Robinson, Roberta Fraschini, Angela Karimpour Ghahnavieh, Giorgio Belloni, Roberto Piergentili, Katherine H Tiemeyer, Michael Tiemeyer, Maria Grazia Giansanti
Congenital Disorders of Glycosylation (CDG) comprise a family of human multi-systemic diseases caused by recessive mutations in genes required for protein N-glycosylation. More than 100 distinct forms of CDGs have been identified and most of them cause severe neurological impairment. The Conserved Oligomeric Golgi (COG) complex mediates tethering of vesicles carrying glycosylation enzymes across the Golgi cisternae. Mutations affecting human COG1, COG2, COG4-COG8 cause monogenic forms of inherited, autosomal recessive, CDGs...
September 7, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28842610/sofosbuvir-protects-zika-virus-infected-mice-from-mortality-preventing-short-and-long-term-sequelae
#11
André C Ferreira, Camila Zaverucha-do-Valle, Patrícia A Reis, Giselle Barbosa-Lima, Yasmine Rangel Vieira, Mayara Mattos, Priscila de Paiva Silva, Carolina Sacramento, Hugo C de Castro Faria Neto, Loraine Campanati, Amilcar Tanuri, Karin Brüning, Fernando A Bozza, Patrícia T Bozza, Thiago Moreno L Souza
Zika virus (ZIKV) causes significant public health concerns because of its association with congenital malformations, neurological disorders in adults, and, more recently, death. Considering the necessity to mitigate ZIKV-associated diseases, antiviral interventions are an urgent necessity. Sofosbuvir, a drug in clinical use against hepatitis C virus (HCV), is among the FDA-approved substances endowed with anti-ZIKV activity. In this work, we further investigated the in vivo activity of sofosbuvir against ZIKV...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28832988/interrater-reliability-of-two-gait-performance-measures-in-children-with-neuromotor-disorders-across-two-different-settings
#12
Corinne Ammann-Reiffer, Caroline H G Bastiaenen, Rob A de Bie, Hubertus J A van Hedel
AIM: To examine the interrater agreement of the two gait performance measures - the Functional Mobility Scale (FMS) and Gillette Functional Assessment Questionnaire - walking scale (FAQ) - within health professionals and parents in children with neuromotor disorders, measured in an inpatient setting and at home. METHOD: Seventy-one children with a neuromotor diagnosis (44 males, 27 females; median age 12y 11mo [interquartile range 4y-10mo]) were consecutively recruited when starting an inpatient active gait rehabilitation programme...
November 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28724750/disruption-of-a-structurally-important-extracellular-element-in-the-glycine-receptor-leads-to-decreased-synaptic-integration-and-signaling-resulting-in-severe-startle-disease
#13
Natascha Schaefer, Alexandra Berger, Johannes van Brederode, Fang Zheng, Yan Zhang, Sophie Leacock, Laura Littau, Sibylle Jablonka, Sony Malhotra, Maya Topf, Friederike Winter, Daria Davydova, Joseph W Lynch, Christopher J Paige, Christian Alzheimer, Robert J Harvey, Carmen Villmann
Functional impairments or trafficking defects of inhibitory glycine receptors (GlyRs) have been linked to human hyperekplexia/startle disease and autism spectrum disorders. We found that a lack of synaptic integration of GlyRs, together with disrupted receptor function, is responsible for a lethal startle phenotype in a novel spontaneous mouse mutant shaky, caused by a missense mutation, Q177K, located in the extracellular β8-β9 loop of the GlyR α1 subunit. Recently, structural data provided evidence that the flexibility of the β8-β9 loop is crucial for conformational transitions during opening and closing of the ion channel and represents a novel allosteric binding site in Cys-loop receptors...
August 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28700181/-hyperuricemia-and-gene-mutations-a-case-report
#14
Fabio Tattoli, Daniela Falconi, Ornella De Prisco, Gherzi Maurizio, Federico Marazzi, Marita Marengo, Ilaria Serra, Michela Tamagnone, Luca Cordero di Montezemolo, Barbara Pasini, Marco Formica
Hyperuricemia is frequently found in nephrology. The case presented may be useful to clarify some pathogenetic aspects. It is a patient of 18 years, hyperuricaemic. Non-consanguineous parents, hyperuricemia in the paternal line, not neuropsychiatric disorders in the family. Delay in neuromotor acquisitions, average intellectual disabilities, anxiety disorder, obsessive-compulsive personality traits. Normal renal function and renal ultrasound. Evidence of hyperuricemia in 2015. Never gouty episodes and / or lithiasis, initiated allopurinol 100 mg on alternate days, with no side effects, urea in the control range, slightly below normal uricuria...
June 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28660313/early-motor-delays-as-diagnostic-clues-in-autism-spectrum-disorder
#15
Susan R Harris
Early identification of autism facilitates referral for early intervention services, shown to be effective in enhancing parent-child interaction as well as adaptive behavior, communication, and socialization. Traditional hallmarks for the diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as stereotypic or repetitive behavioral patterns. Research during the past decade suggests that developmental motor delays during early childhood may also be important predictors of this difficult-to-make diagnosis...
September 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28560552/children-with-and-without-dystonia-share-common-muscle-synergies-while-performing-writing-tasks
#16
Francesca Lunardini, Claudia Casellato, Matteo Bertucco, Terence D Sanger, Alessandra Pedrocchi
Childhood dystonia is a movement disorder characterized by muscle overflow and variability. This is the first study that investigates upper limb muscle synergies in childhood dystonia with the twofold aim of deepening the understanding of neuromotor dysfunctions and paving the way to possible synergy-based myocontrol interfaces suitable for this neurological population. Nonnegative matrix factorization was applied to the activity of upper-limb muscles recorded during the execution of writing tasks in children with dystonia and age-matched controls...
August 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28542867/use-of-active-video-gaming-in-children-with-neuromotor-dysfunction-a-systematic-review
#17
REVIEW
Robbin Hickman, Lisa Popescu, Robert Manzanares, Brendan Morris, Szu-Ping Lee, Janet S Dufek
AIM: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome. METHOD: Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Parameters studied included health condition, strength of evidence, AVG delivery methods, capacity for individualizing play, outcomes addressed, effectiveness for achieving outcomes, and challenges/limitations...
September 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28464876/prenatal-chlorpyrifos-leads-to-autism-like-deficits-in-c57bl6-j-mice
#18
Anat Lan, Michal Kalimian, Benjamin Amram, Ora Kofman
BACKGROUND: Children are at daily risk for exposure to organophosphate insecticides, of which the most common is chlorpyrifos (CPF). Exposure of pregnant women to CPF was linked to decreased birth weight, abnormal reflexes, reduction in IQ, as well as increased maternal reports of signs of pervasive developmental disorder. The aim of current study was to examine the long term effects of prenatal exposure to CPF in C57BL/6 J (B6) mice with specific focus on social and repetitive behavior...
May 2, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28374541/the-trunk-control-measurement-scale-reliability-and-discriminative-validity-in-children-and-young-people-with-neuromotor-disorders
#19
Petra Marsico, Elena Mitteregger, Julia Balzer, Hubertus J A van Hedel
AIM: This study investigated the intra- and interrater reliability of the Trunk Control Measurement Scale (TCMS) German version, with its subscores, in children with neuromotor disorders. Further, the discriminative validity of the TCMS was assessed by comparing the TCMS scores with the Functional Independence Measure for children. METHOD: Bland-Altman analyses and intraclass correlation coefficients were applied to investigate reliability. The discriminative ability of the TCMS was evaluated with receiver operating characteristics...
July 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28359181/serious-games-for-upper-limb-rehabilitation-a-systematic-review
#20
João Pedro Proença, Cláudia Quaresma, Pedro Vieira
The aim of this research is to carry out a systematic review of the use of technological gaming platforms with serious games in the upper limb rehabilitation of patients with neuromotor disorders. Through a systematic review, the first two authors defined the inclusion criteria and extracted the data, resulting in 38 studies collected from B-On, PubMed and Medline. Ninety-two per cent of the selected articles were published since 2010. This review documents 35 different gaming platforms types. Twenty-one of the 38 articles included in this review conducted a clinical trial and of those only eight report improvements in the target population following the use of the games and platforms...
March 30, 2017: Disability and Rehabilitation. Assistive Technology
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