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https://www.readbyqxmd.com/read/28618239/extent-and-risks-of-antipsychotic-off-label-use-in-children-and-adolescents-in-germany-between-2004-and-2011
#1
Carsten Schröder, Michael Dörks, Bianca Kollhorst, Tilo Blenk, Ralf W Dittmann, Edeltraut Garbe, Oliver Riedel
OBJECTIVE: Only little is known about antipsychotic (AP) off-label use (OLU) in pediatric populations. It was the aim of this study to examine the frequency as well as the risks of off-label AP use in underaged patients. METHODS: To calculate the frequency of off-label AP prescriptions for the years 2004-2011, we used claims data of more than two million minors aged 0-17 years. Off-label prescriptions were analyzed with regard to type of OLU, physician specialty, and underlying diagnoses...
June 15, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28601961/basal-ganglia-movement-disorders-and-deep-brain-stimulation-advances-made-through-non-human-primate-research
#2
REVIEW
Thomas Wichmann, Hagai Bergman, Mahlon R DeLong
Studies in non-human primates (NHPs) have led to major advances in our understanding of the function of the basal ganglia and of the pathophysiologic mechanisms of hypokinetic movement disorders such as Parkinson's disease and hyperkinetic disorders such as chorea and dystonia. Since the brains of NHPs are anatomically very close to those of humans, disease states and the effects of medical and surgical approaches, such as deep brain stimulation (DBS), can be more faithfully modeled in NHPs than in other species...
June 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28566174/role-of-the-other-babinski-sign-in-hyperkinetic-facial-disorders
#3
Sara Varanda, Sofia Rocha, Margarida Rodrigues, Álvaro Machado, Gisela Carneiro
BACKGROUND: The "other Babinski sign" consists in the co-contraction of the orbicularis and frontalis muscles, causing an eyebrow elevation during ipsilateral eye closure. It cannot be voluntarily reproduced. AIMS OF THE STUDY: To determine the utility of this sign in the differential diagnosis of hyperkinetic facial disorders. METHODS: The presence of the sign was assessed in consecutive patients with blepharospasm, primary hemifacial spasm or post-paralytic facial syndrome treated in a botulinum toxin outpatient clinic...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28556479/tonic-and-phasic-changes-in-anteromedial-globus-pallidus-activity-in-tourette-syndrome
#4
Michal Israelashvili, Anouk Y J M Smeets, Maya Bronfeld, Dagmar H Zeef, Albert F G Leentjens, Vivianne van Kranen-Mastenbroek, Marcus L F Janssen, Yasin Temel, Linda Ackermans, Izhar Bar-Gad
BACKGROUND: Tourette syndrome is a hyperkinetic neurodevelopmental disorder characterized by tics. OBJECTIVE: Assess the neuronal changes in the associative/limbic GP associated with Tourette syndrome. METHODS: Neurophysiological recordings were performed from the anterior (associative/limbic) GPe and GPi of 8 awake patients during DBS electrode implantation surgeries. RESULTS: The baseline firing rate of the neurons was low in a state-dependent manner in both segments of the GP...
May 29, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28539852/abnormal-brain-connectivity-spectrum-disorders-following-thimerosal-administration-a-prospective-longitudinal-case-control-assessment-of-medical-records-in-the-vaccine-safety-datalink
#5
David A Geier, Janet K Kern, Kristin G Homme, Mark R Geier
BACKGROUND: Autism spectrum disorder (ASD), tic disorder (TD), and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD]) are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs) because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg)-based preservative. METHODS: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs) for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life...
January 2017: Dose-response: a Publication of International Hormesis Society
https://www.readbyqxmd.com/read/28512024/repurposing-of-proton-pump-inhibitors-as-first-identified-small-molecule-inhibitors-of-endo-%C3%AE-n-acetylglucosaminidase-engase-for-the-treatment-of-ngly1-deficiency-a-rare-genetic-disease
#6
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
N-Glycanase deficiency, or NGLY1 deficiency, is an extremely rare human genetic disease. N-Glycanase, encoded by the gene NGLY1, is an important enzyme involved in protein deglycosylation of misfolded proteins. Deglycosylation of misfolded proteins precedes the endoplasmic reticulum (ER)-associated degradation (ERAD) process. NGLY1 patients produce little or no N-glycanase (Ngly1), and the symptoms include global developmental delay, frequent seizures, complex hyperkinetic movement disorder, difficulty in swallowing/aspiration, liver dysfunction, and a lack of tears...
July 1, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#7
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28470381/relationship-of-serum-ferritin-level-and-tic-severity-in-children-with-tourette-syndrome
#8
Debabrata Ghosh, Elizabeth Burkman
PURPOSE: Tics can be considered hyperkinetic movements akin to restless leg syndrome (RLS). Drawing the analogy of iron deficiency as an etiology of RLS, it is conceivable that iron deficiency may underlie or worsen tics in Tourette syndrome (TS). The purpose of this study was to evaluate the relationship between serum ferritin levels and tic severity, as well as consequent impact on life, in children with TS. METHODS: Children <18 years, diagnosed with TS during 2009-2015, were reviewed...
May 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28462554/an-interesting-case-of-a-movement-disorder
#9
K Ganesamoorthy, R Surendran, K Jamunarani, A Akila, C J Selvakumar, G Suganthi, M Shalini, Usha
Neuroacanthocytosis is a genetic neurodegenerative disorder with syndromes of variable inheritance. These hyperkinetic movement disorders are reported to be very rare. It is associated with choreiform movements, orofacial and lingual dyskinesias and acanthocytes on peripheral smear and normolipoproteinemia. Here we present a similar case.
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#10
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28400125/age-dependent-decrease-of-gad65-67-mrnas-but-normal-densities-of-gabaergic-interneurons-in-the-brain-regions-of-shank3-overexpressing-manic-mouse-model
#11
Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Yeunkum Lee, Kihoon Han
Dysfunction of inhibitory GABAergic interneurons is considered a major pathophysiological feature of various neurodevelopmental and neuropsychiatric disorders. The variants of SHANK3 gene, encoding a core scaffold protein of the excitatory postsynapse, have been associated with numerous brain disorders. It has been suggested that abnormalities of GABAergic interneurons could contribute to the SHANK3-related disorders, but the limitation of these studies is that they used mainly Shank3 knock-out mice. Notably, Shank3-overexpressing transgenic mice, modeling human hyperkinetic disorders, also show reduced inhibitory synaptic transmission, abnormal electroencephalography, and spontaneous seizures...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28399095/-modern-principles-of-integrated-diagnostics-and-rehabilitation-of-perinatal-lesions-of-the-nervous-system-and-their-consequences
#12
S A Nemkova
The article is devoted to the comprehensive diagnosis and treatment of perinatal lesions of the nervous system and their consequences in children. Reflects modern approaches to data classification conditions, taking into account ideas on the etiology and pathogenesis of the disease, the clinical manifestations of the main syndromes (excitation and depression, hypertensive, convulsive, movement disorders) as the neonatal period, and in the formation of long-term effects (motor and mental delay and speech development, hyperkinetic syndrome, cerebral palsy and others)...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28397578/paroxysmal-kinesigenic-dyskinesia-like-phenotype-in-multiple-sclerosis
#13
Roxana Pop, Stefan Kipfer
In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28382107/tetrabenazine-in-treatment-of-hyperkinetic-movement-disorders-an-observational-study
#14
Rita Miguel, Marcelo D Mendonça, Raquel Barbosa, Filipa Ladeira, Tânia Lampreia, José Vale, Paulo Bugalho
BACKGROUND: Tetrabenazine (TBZ) is commonly used in hyperkinetic movement disorders. In this retrospective study, we aimed to assess the TBZ effectiveness and adverse events (AEs) in Huntington disease (HD), vascular chorea, tics, dystonia, tardive oromandibular (OM) dyskinesia and other tardive syndromes (TS). METHODS: Qualitative analysis of clinical response was used to estimate TBZ effectiveness. TBZ-associated AE frequency and subsequent discontinuation rate were used to estimate tolerability; the tolerability profile was measured through the TBZ minimal dose and exposure time required to elicit AEs...
February 2017: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#15
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28276257/pre-conceptual-and-prenatal-supplementary-folic-acid-and-multivitamin-intake-behavioral-problems-and-hyperkinetic-disorders-a-study-based-on-the-danish-national-birth-cohort-dnbc
#16
Jasveer Virk, Zeyan Liew, Jørn Olsen, Ellen A Nohr, Janet M Catov, Beate Ritz
OBJECTIVE: To evaluate whether early folic acid or multivitamin supplementation during pregnancy prevents diagnosis of hyperkinetic disorders (HKD), treatment for attention deficit hyperactivity disorder (ADHD), and ADHD-like behaviors reported by parents participating in the DNBC for children at age 7. METHODS: HKD diagnosis and ADHD medication use data were obtained from the Danish National Hospital, Central Psychiatric and Pharmaceutical registers. We estimated hazard ratios (HRs) for HKD diagnosis and ADHD medication use and risk ratios (RRs) for parent-reported ADHD behavior collected with the Strength and Difficulties Questionnaire (SDQ), comparing children whose mothers took folic acid or multivitamin supplements early in pregnancy defined as starting periconceptionally (4 weeks prior to their last menstrual period (LMP)) through 8 weeks after their LMP (4-8 weeks), to children whose mothers indicated no supplement use for the same entire period...
March 9, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28255005/international-union-of-basic-and-clinical-pharmacology-ci-structures-and-small-molecule-modulators-of-mammalian-adenylyl-cyclases
#17
REVIEW
Carmen W Dessauer, Val J Watts, Rennolds S Ostrom, Marco Conti, Stefan Dove, Roland Seifert
Adenylyl cyclases (ACs) generate the second messenger cAMP from ATP. Mammalian cells express nine transmembrane AC (mAC) isoforms (AC1-9) and a soluble AC (sAC, also referred to as AC10). This review will largely focus on mACs. mACs are activated by the G-protein Gαs and regulated by multiple mechanisms. mACs are differentially expressed in tissues and regulate numerous and diverse cell functions. mACs localize in distinct membrane compartments and form signaling complexes. sAC is activated by bicarbonate with physiologic roles first described in testis...
April 2017: Pharmacological Reviews
https://www.readbyqxmd.com/read/28247426/birth-asphyxia-measured-by-the-ph-value-of-the-umbilical-cord-blood-may-predict-an-increased-risk-of-attention-deficit-hyperactivity-disorder
#18
Susanne Hvolgaard Mikkelsen, Jørn Olsen, Bodil Hammer Bech, Chunsen Wu, Zeyan Liew, Mika Gissler, Carsten Obel, Onyebuchi Arah
AIM: Although birth asphyxia is a major risk factor for neonatal and childhood morbidity and mortality, it has not been investigated much in relation to attention deficit hyperactivity disorder (ADHD). We examined whether birth asphyxia measured by the pH of the blood in the umbilical artery cord was associated with childhood ADHD. METHOD: A population-based cohort of 295 687 children born in Finland between 1991 and 2002 was followed until December 31, 2007. ADHD was identified by the International Classification of Diseases, 10th edition, as a diagnosis of hyperkinetic disorder...
March 1, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28211645/disability-and-inclusive-education-in-an-italian-region-analysis-of-the-data-for-the-school-year-2012-2013
#19
Evamaria Lanzarini, Antonia Parmeggiani
BACKGROUND: In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The aim of the study was to identify the causes of disability in children attending public schools during the school year 2012-2013. METHODS: The study was designed as a cross-sectional survey...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28190498/classification-of-involuntary-movements-in-dogs-paroxysmal-dyskinesias
#20
REVIEW
Mark Lowrie, Laurent Garosi
Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies...
February 2017: Veterinary Journal
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