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https://www.readbyqxmd.com/read/28884947/confirmation-of-an-arid2-defect-in-swi-snf-related-intellectual-disability
#1
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
#2
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
#3
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
#4
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...
August 18, 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
#5
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
#6
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
#7
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...
June 28, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28560552/children-with-and-without-dystonia-share-common-muscle-synergies-while-performing-writing-tasks
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28357186/lesch-nyhan-syndrome-the-saga-of-metabolic-abnormalities-and-self-injurious-behavior
#13
Nitesh Tewari, Vijay Prakash Mathur, Divesh Sardana, Kalpana Bansal
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28335658/dopamine-antagonists-for-treatment-resistance-in-autism-spectrum-disorders-review-and-focus-on-bdnf-stimulators-loxapine-and-amitriptyline
#14
REVIEW
Jessica A Hellings, L Eugene Arnold, Joan C Han
Drug development and repurposing are urgently needed for individuals with autism spectrum disorders (ASD) and psychiatric comorbidity, which often presents as aggression and self-injury. Areas covered: We review dopamine antagonists, including classical and atypical, as well as unconventional antipsychotics in ASD. The older antipsychotic loxapine is discussed in terms of preliminary albeit limited evidence in ASD. Emerging promise of amitriptyline in ASD is discussed, together with promising BDNF effects of loxapine and amitriptyline...
April 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28291459/clinical-and-magnetic-resonance-spectroscopic-imaging-findings-in-veterans-with-blast-mild-traumatic-brain-injury-and-post-traumatic-stress-disorder
#15
Anthony P Kontos, Anne C Van Cott, Jodilyn Roberts, Jullie W Pan, Monique B Kelly, Jamie McAllister-Deitrick, Hoby P Hetherington
OBJECTIVES: To compare magnetic resonance spectroscopic imaging (MRSI) findings from the hippocampal regions of military veterans with blast-related mild traumatic brain injury (blast mTBI) and post-traumatic stress disorder (PTSD) to those with PTSD only; and to examine the relationship of MRSI findings to cognitive and neuromotor impairment. METHODS: 35 military veterans-23 with blast mTBI and PTSD (blast mTBI/PTSD) and 12 with PTSD only participated in the study...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#16
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28282530/effect-of-early-intervention-on-functional-outcome-at-school-age-follow-up-and-process-evaluation-of-a-randomised-controlled-trial-in-infants-at-risk
#17
Elisa G Hamer, Tjitske Hielkema, Arend F Bos, Tineke Dirks, Siebrigje J Hooijsma, Heleen A Reinders-Messelink, Rivka F Toonen, Mijna Hadders-Algra
BACKGROUND: The long-term effect of early intervention in infants at risk for developmental disorders is unclear. The VIP project (n=46, originally) evaluated by means of a randomised controlled trial the effect of the family centred early intervention programme COPCA (Coping with and Caring for infants with special needs) in comparison to that of traditional infant physiotherapy (TIP). AIMS: To evaluate the effect of early intervention on functional outcome at school age...
March 2017: Early Human Development
https://www.readbyqxmd.com/read/28279852/effectiveness-of-surgical-and-non-surgical-management-of-crouch-gait-in-cerebral-palsy-a-systematic-review
#18
REVIEW
Scott A Galey, Zachary F Lerner, Thomas C Bulea, Seymour Zimbler, Diane L Damiano
BACKGROUND: Cerebral palsy (CP) is a prevalent group of neuromotor disorders caused by early injury to brain regions or pathways that control movement. Patients with CP exhibit a range of functional motor disabilities and pathologic gait patterns. Crouch gait, characterized by increased knee flexion throughout stance, is a common gait pattern in CP that increases energy costs of walking and contributes to ambulatory decline. Our aim was to perform the first systematic literature review on the effectiveness of interventions utilized to ameliorate crouch gait in CP...
February 24, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28252520/therapeutic-effects-of-horseback-riding-interventions-a-systematic-review-and-meta-analysis
#19
Alexandra Stergiou, Meropi Tzoufi, Evangelia Ntzani, Dimitrios Varvarousis, Alexandros Beris, Avraam Ploumis
OBJECTIVE: Equine-assisted therapies, such as therapeutic riding and hippotherapy, are believed to have positive physical and emotional effects in individuals with neuromotor, developmental, and physical disabilities. The purpose of this review was to determine whether therapeutic riding and hippotherapy improve balance, motor function, gait, muscle symmetry, pelvic movement, psychosocial parameters, and the patients' overall quality of life. DESIGN: In this study, a literature search was conducted on MEDLINE, CINAHL, MBASE, SportDiscus, Cochrane Database of Systematic Reviews, Cochrane Controlled Trials Register, PEDro, DARE, Google Scholar, and Dissertation Abstracts...
October 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28181411/infant-muscle-tone-and-childhood-autistic-traits-a-longitudinal-study-in-the-general-population
#20
Fadila Serdarevic, Akhgar Ghassabian, Tamara van Batenburg-Eddes, Tonya White, Laura M E Blanken, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier
In a longitudinal population-based study of 2,905 children, we investigated if infants' neuromotor development was associated with autistic traits in childhood. Overall motor development and muscle tone were examined by trained research assistants with an adapted version of Touwen's Neurodevelopmental Examination between ages 2 and 5 months. Tone was assessed in several positions and items were scored as normal, low, or high tone. Parents rated their children's autistic traits with the Social Responsiveness Scale (SRS) and the Pervasive Developmental Problems (PDP) subscale of the Child Behavior Checklist at 6 years...
May 2017: Autism Research: Official Journal of the International Society for Autism Research
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