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Pediatric dystonia

Ian M Paul, Kate M Reynolds, Ralph E Kauffman, William Banner, G Randall Bond, Robert B Palmer, Randy I Burnham, Jody L Green
STUDY OBJECTIVE: Dextromethorphan is the most common over-the-counter (OTC) antitussive medication. We sought to characterize adverse events associated with dextromethorphan in children <12 years old from a surveillance program of OTC cough/cold medication exposures. METHODS: This is a retrospective case series of oral exposures to dextromethorphan with ≥1 adverse event from multiple U.S. sources (National Poison Data System, FDA Adverse Event Reporting System, manufacturer safety reports, news/media, medical literature) reported between 2008 and 2014...
October 13, 2016: Clinical Toxicology
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
September 7, 2016: European Journal of Paediatric Neurology: EJPN
Suresh Kumar, Sudhir Sharma, Anupam Jhobta, Ram Gopal Sood
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by idiopathic occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels along anterior or posterior circulation. We present an unusual case of MMD presenting with generalized dystonia as the predominant manifestation.
April 2016: Journal of Pediatric Neurosciences
P Krause, K Lauritsch, A Lipp, A Horn, B Weschke, A Kupsch, K L Kiening, G-H Schneider, A A Kühn
Pallidal deep brain stimulation (DBS) is an established treatment for patients with severe isolated dystonia. However, clinical evidence for the long-term use of DBS in children is limited and controlled trials have not yet been conducted. Here, we provide the long-term results of up to 13 years of pallidal DBS in eight pediatric patients with generalized idiopathic or hereditary isolated dystonia (five males, mean age at surgery 12.5 ± 3.5 years), as assessed by retrospective video rating. Video rating was performed at three time points: pre-operative, 1-year short-term follow-up (1y-FU) and long-term last FU (LT-FU, up to 13 years)...
November 2016: Journal of Neurology
Fatima Yousif Ismail, Ali Fatemi, Michael V Johnston
BACKGROUND: Neuroplasticity refers to the inherently dynamic biological capacity of the central nervous system (CNS) to undergo maturation, change structurally and functionally in response to experience and to adapt following injury. This malleability is achieved by modulating subsets of genetic, molecular and cellular mechanisms that influence the dynamics of synaptic connections and neural circuitry formation culminating in gain or loss of behavior or function. Neuroplasticity in the healthy developing brain exhibits a heterochronus cortex-specific developmental profile and is heightened during "critical and sensitive periods" of pre and postnatal brain development that enable the construction and consolidation of experience-dependent structural and functional brain connections...
August 9, 2016: European Journal of Paediatric Neurology: EJPN
Chiara Bernagie, Marina Danckaerts, Martien Wampers, Marc De Hert
BACKGROUND: Both the US FDA and the European Medicines Agency (EMA) have approved aripiprazole for use in adolescents for specific indications. Given the assumed favorable side-effect profile of aripiprazole, its use in children and adolescents has increased for both official and off-label indications (anxiety disorders, eating disorders, personality disorders). However, several cases of children and adolescents with new-onset extrapyramidal symptoms (EPS) after commencing treatment with aripiprazole have been reported, and a more systematic appraisal of this possible risk is lacking...
September 2016: CNS Drugs
Warren Marks, Laurie Bailey, Terence D Sanger
BACKGROUND: Interactive neuromodulation represents the evolving frontier in surgical treatment of a variety of disorders involving the sensory organs and nervous system. Building on the advances of pioneering neurologists and neurosurgeons, progress has been made since the introduction of deep brain stimulation (DBS). Microelectrode recording has greatly aided our understanding of the underlying pathogenesis of movement disorders and the effects of electrical stimulation. The introduction of image - guided systems to provide targeted, controlled neuro-stimulation to specific brain areas is an emerging technique for implantation and may have special appeal for pediatric patients...
June 18, 2016: European Journal of Paediatric Neurology: EJPN
Francesco Motta, Clara Eleonora Antonello
OBJECTIVE In this single-center study the authors investigated the complications occurring before and after the introduction of the new Ascenda intrathecal catheter (Medtronic Inc.) in pediatric patients treated with intrathecal baclofen therapy (ITB) for spasticity and/or dystonia. METHODS This was a retrospective review of 508 children who had received ITB, 416 with silicone catheters in the 13 years between September 1998 and September 2011 and 92 with Ascenda catheters in the 3 years between September 2011 and August 2014...
June 24, 2016: Journal of Neurosurgery. Pediatrics
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A Hsu, Wolfram S Kunz, Miriam H Meisler, Rafal Ploski
In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden onset of a progressive neurological disorder and regression of developmental milestones. Both children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibited striatal abnormalities on MRI...
July 7, 2016: American Journal of Human Genetics
Özge Yılmaz-Topa, Nilden Tuygun, Halise Akça, Emine Polat, Can Demir Karacan
Drug-induced dystonic reactions are a common presentation to the Pediatric Emergency Department frequently with antiemetics, antidepressants, dopamineblocking agents and antipyschotics. We report a case of generalized form of dystonia after taking albendazole and cetirizine. There is only one case with albendazole induced and two cases with cetirizine induced dystonia in the literature.
July 2015: Turkish Journal of Pediatrics
Ulrich Palm, Felix M Segmiller, Ann Natascha Epple, Franz-Joseph Freisleder, Nikolaos Koutsouleris, Gerd Schulte-Körne, Frank Padberg
Transcranial direct current stimulation (tDCS) is a non-invasive brain stimulation method that has shown promising results in various neuropsychiatric disorders in adults. This review addresses the therapeutic use of tDCS in children and adolescents including safety, ethical, and legal considerations. There are several studies addressing the dosage of tDCS in children and adolescents by computational modeling of electric fields in the pediatric brain. Results suggest halving the amperage used in adults to obtain the same peak electric fields, however, there are some studies reporting on the safe application of tDCS with standard adult parameters in children (2 mA; 20-30 min)...
October 2016: Journal of Neural Transmission
Mika H Martikainen, Yi Shiau Ng, Gráinne S Gorman, Charlotte L Alston, Emma L Blakely, Andrew M Schaefer, Patrick F Chinnery, David J Burn, Robert W Taylor, Robert McFarland, Doug M Turnbull
IMPORTANCE: Extrapyramidal movement disorders associated with mitochondrial disease are difficult to treat and can lead to considerable disability. Moreover, potential new treatment trials on the horizon highlight the importance of genotype-phenotype associations and deep phenotyping of the movement disorders related to mitochondrial disease. OBJECTIVE: To describe the phenotype, genetic etiology, and investigation of extrapyramidal movement disorders in a large and well-defined mitochondrial disease cohort...
June 1, 2016: JAMA Neurology
Ayşe Kaçar Bayram, Hakan Gümüş, Duran Arslan, Güldemet Kaya Özçora, Sefer Kumandaş, Neslihan Karacabey, Mehmet Canpolat, Hüseyin Per
AIM: Wilson's disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment. MATERIAL AND METHODS: Twelve children with a diagnosis of Wilson's disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study...
March 2016: Türk Pediatri Arşivi
Florence C F Chang, Ana Westenberger, Russell C Dale, Martin Smith, Hardev S Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A Ouvrier, Neil Mahant, Bernadette C Hanna, Matthew Hunter, John A Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G L Morris, Alex Münchau, Detelina Grozeva, Keren J Carss, Lucy Raymond, Manju A Kurian, Christine Klein, Victor S C Fung
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. METHODS: In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing...
July 2016: Movement Disorders: Official Journal of the Movement Disorder Society
J Gordon Millichap, Michelle M Yee
Investigators from Child Neurology and Pediatrics, University of Texas Health Science Center, Houston, report extrapyramidal symptoms in a 13-year-old boy with a psychiatric history of schizophrenia, bipolar disorder, ADHD, and autism, responsive to combination risperidone, oxcarbazepine, and MPH.
January 2016: Pediatric neurology briefs
Heather S Spader, Robert J Bollo, Christian A Bowers, Jay Riva-Cambrin
OBJECTIVE Intrathecal baclofen infusion systems to manage severe spasticity and dystonia are associated with higher infection rates in children than in adults. Factors unique to this population, such as poor nutrition and physical limitations for pump placement, have been hypothesized as the reasons for this disparity. The authors assessed potential risk factors for infection in a multivariate analysis. METHODS Patients who underwent implantation of a programmable pump and intrathecal catheter for baclofen infusion at a single center between January 1, 2000, and March 1, 2012, were identified in this retrospective cohort study...
June 2016: Journal of Neurosurgery. Pediatrics
Aloysia L Schwabe
Botulinum neurotoxin (BoNT) is one of the mainstays in the treatment of pediatric spasticity and dystonia. When considering initiation of BoNT treatment for spasticity, treatment goals and responses to prior conservative measures such as passive range of motion exercises, splinting, and other medication trials should be reviewed. As a general rule, children should be engaged in therapy services around the time of the injections and have a robust home program in place. When managing spasticity in children with BoNT injections, the practitioner should be well versed in functional anatomy with specialized training in injection techniques...
February 2016: Seminars in Plastic Surgery
Keith K Abe, Roshni L Koli, Loren G Yamamoto
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an acute autoimmune neurological disorder that presents with acute to subacute psychiatric and/or neurological complaints including new onset behavioral changes that may evolve to psychosis and catatonia, cognitive decline, new onset seizures, progressive encephalopathy, and/or movement disorders. Female teens and adults often have an associated ovarian teratoma as an underlying etiology, but most pediatric patients do not have an identifiable associated neoplasm...
February 2016: Pediatric Emergency Care
Serkan Güneş, Özalp Ekinci, Meltem Çobanoğulları Direk, Veli Yıldırım, Çetin Okuyaz, Fevziye Toros
Pisa syndrome, a rare dystonic reaction resulting from prolonged exposure to antipsychotic medications, is characterized by persistent dystonia of trunk muscles and abnormal posture. It is called Pisa syndrome, because the abnormal posture resembles the Leaning Tower of Pisa. Different from other types of dystonic reactions, Pisa syndrome is more prevalent in females and in older patients with organic brain changes. A 15-year-old male patient with mental retardation was admitted to pediatric neurology clinic for the complaint of abnormal posturing...
February 29, 2016: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
Daniel Tibussek, Ertan Mayatepek, Dirk Klee, Anne Koy
BACKGROUND: Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystonias, are much more common in children after stroke compared to adults. However, research in this field is largely lacking. By highlighting some important knowledge gaps, we aim to encourage future collaborative research projects in this particular field. FINDINGS: Post stroke-dystonia seems to be much more common among children than adults...
December 2015: Molecular and Cellular Pediatrics
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