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Neuromotor disorder

Verónica Schiariti, Eileen Fowler, Joline E Brandenburg, Eric Levey, Sarah Mcintyre, Theresa Sukal-Moulton, Sharon L Ramey, Jessica Rose, Susan Sienko, Elaine Stashinko, Laura Vogtle, Robin S Feldman, James I Koenig
To increase the efficiency and effectiveness of clinical research studies, cerebral palsy (CP) specific Common Data Elements (CDEs) were developed through a partnership between the National Institute of Neurological Disorders and Stroke (NINDS) and the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM). International experts reviewed existing NINDS CDEs and tools used in studies of children and young people with CP. CDEs were compiled, subjected to internal review, and posted online for external public comment in September 2016...
March 15, 2018: Developmental Medicine and Child Neurology
Sayaka Aoki, Keiji Hashimoto, Hidetoshi Mezawa, Yuhei Hatakenaka, Kahoko Yasumitsu-Lovell, Narufumi Suganuma, Yukihiro Ohya, Philip Wilson, Elisabeth Fernell, Yoko Kamio, Christopher Gillberg
OBJECTIVE: As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reliability on scoring for the individual items in this scale was assessed. METHODS: The participants of the study were 29 children (aged 1-5 years, mean age = 2...
February 21, 2018: Brain & Development
Annina E Zysset, Tanja H Kakebeeke, Nadine Messerli-Bürgy, Andrea H Meyer, Kerstin Stülb, Claudia S Leeger-Aschmann, Einat A Schmutz, Amar Arhab, Valentina Ferrazzini, Susi Kriemler, Simone Munsch, Jardena J Puder, Oskar G Jenni
Motor skills are interrelated with essential domains of childhood such as cognitive and social development. Thus, the evaluation of motor skills and the identification of atypical or delayed motor development is crucial in pediatric practice (e.g., during well-child visits). Parental reports on motor skills may serve as possible indicators to decide whether further assessment of a child is necessary or not. We compared parental reports on fundamental motor skills performance level (e.g., hopping, throwing), based on questions frequently asked in pediatric practice, with a standardized motor test in 389 children (46...
February 9, 2018: European Journal of Pediatrics
Jonathan S Brumberg, Anh Nguyen, Kevin M Pitt, Sean D Lorenz
PURPOSE: We investigated how overt visual attention and oculomotor control influence successful use of a visual feedback brain-computer interface (BCI) for accessing augmentative and alternative communication (AAC) devices in a heterogeneous population of individuals with profound neuromotor impairments. BCIs are often tested within a single patient population limiting generalization of results. This study focuses on examining individual sensory abilities with an eye toward possible interface adaptations to improve device performance...
January 31, 2018: Disability and Rehabilitation. Assistive Technology
Corinne Ammann-Reiffer, Caroline H G Bastiaenen, Corina Klöti, Hubertus J A van Hedel
AIMS: To investigate the concurrent validity of two mobility performance measures, the Functional Mobility Scale (FMS) and the Gillette Functional Assessment Questionnaire - walking scale (FAQ) in an inpatient pediatric neurorehabilitation setting. METHODS: Cross-sectional data were collected on 71 children (mean age 12.7 years) with neuromotor gait impairments who participated in an inpatient rehabilitation program to evaluate aspects of concurrent validity of the FMS and FAQ...
January 16, 2018: Physical & Occupational Therapy in Pediatrics
Mohammad S Islam, Khondaker A Mamun, Hai Deng
Decoding neural activities related to voluntary and involuntary movements is fundamental to understanding human brain motor circuits and neuromotor disorders and can lead to the development of neuromotor prosthetic devices for neurorehabilitation. This study explores using recorded deep brain local field potentials (LFPs) for robust movement decoding of Parkinson's disease (PD) and Dystonia patients. The LFP data from voluntary movement activities such as left and right hand index finger clicking were recorded from patients who underwent surgeries for implantation of deep brain stimulation electrodes...
2017: Computational Intelligence and Neuroscience
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...
January 2018: American Journal of Medical Genetics. Part A
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)...
December 2017: Pediatrics
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
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.
January 1, 2018: JAMA Psychiatry
Jill Rodda
No abstract text is available yet for this article.
November 2017: Developmental Medicine and Child Neurology
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
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
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
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
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 multisystemic 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 and COG4-COG8 cause monogenic forms of inherited, autosomal recessive CDGs...
November 1, 2017: Journal of Cell Science
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
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
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
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
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