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RBC Child Neurology Recommended Reading List

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Sinéad Barry, Gillian Baird, Karine Lascelles, Penny Bunton, Tammy Hedderly
AIM: The term 'stereotypies' encompasses a diverse range of movements, behaviours, and/or vocalizations that are repetitive, lack clear function, and sometimes appear to have a negative impact upon an individual's life. This review aims to describe motor stereotypies. METHOD: This study reviewed the current literature on the nature, aetiology, and treatment of motor stereotypies. RESULTS: Motor stereotypies occur commonly but not exclusively in autistic spectrum disorders...
November 2011: Developmental Medicine and Child Neurology
Lidia Frejo, Ina Giegling, Roberto Teggi, Jose A Lopez-Escamez, Dan Rujescu
The two most common vestibular disorders are motion sickness and vestibular migraine, affecting 30 and 1-2% of the population respectively. Both are related to migraine and show a familial trend. Bilateral vestibular hypofunction is a rare condition, and some of patients also present cerebellar ataxia and neuropathy. We present recent advances in the genetics of vestibular disorders with familial aggregation. The clinical heterogeneity observed in different relatives of the same families suggests a variable penetrance and the interaction of several genes in each family...
April 2016: Journal of Neurology
Julian M Stewart, Jeffrey R Boris, Gisela Chelimsky, Phillip R Fischer, John E Fortunato, Blair P Grubb, Geoffrey L Heyer, Imad T Jarjour, Marvin S Medow, Mohammed T Numan, Paolo T Pianosi, Wolfgang Singer, Sally Tarbell, Thomas C Chelimsky
Orthostatic intolerance (OI), having difficulty tolerating an upright posture because of symptoms or signs that abate when returned to supine, is common in pediatrics. For example, ∼40% of people faint during their lives, half of whom faint during adolescence, and the peak age for first faint is 15 years. Because of this, we describe the most common forms of OI in pediatrics and distinguish between chronic and acute OI. These common forms of OI include initial orthostatic hypotension (which is a frequently seen benign condition in youngsters), true orthostatic hypotension (both neurogenic and nonneurogenic), vasovagal syncope, and postural tachycardia syndrome...
January 2018: Pediatrics
Josef Finsterer, Sinda Zarrouk-Mahjoub, Alejandra Daruich
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype. This review aims at summarizing and discussing the etiology, pathogenesis, diagnosis, and treatment of ophthalmologic manifestations of mitochondrial disorders. Review of publications about ophthalmologic involvement in mitochondrial disorders by search of Medline applying appropriate search terms. The eye is frequently affected by syndromic as well as nonsyndromic mitochondrial disorders...
April 2016: Journal of Child Neurology
Anthony A Figaji
General and central nervous system anatomy and physiology in children is different to that of adults and this is relevant to traumatic brain injury (TBI) and spinal cord injury. The controversies and uncertainties in adult neurotrauma are magnified by these differences, the lack of normative data for children, the scarcity of pediatric studies, and inappropriate generalization from adult studies. Cerebral metabolism develops rapidly in the early years, driven by cortical development, synaptogenesis, and rapid myelination, followed by equally dramatic changes in baseline and stimulated cerebral blood flow...
2017: Frontiers in Neurology
Michael J Rivkin, Timothy J Bernard, Michael M Dowling, Catherine Amlie-Lefond
Stroke in children carries lasting morbidity. Once recognized, it is important to evaluate and treat children with acute stroke efficiently and accurately. All children should receive neuroprotective measures. It is reasonable to consider treatment with advanced thrombolytic and endovascular agents. Delivery of such care requires purposeful institutional planning and organization in pediatric acute care centers. Primary stroke centers established for adults provide an example of the multidisciplinary approach that can be applied to the evaluation and treatment of children who present with acute stroke...
March 2016: Pediatric Neurology
Mary V Greiner, Hansel M Greiner, Marguerite M Caré, Deanna Owens, Robert Shapiro, Katherine Holland
The primary objectives of this study were to determine the prevalence of nonconvulsive seizures and nonconvulsive status epilepticus in patients with abusive head trauma who underwent electroencephalography (EEG) monitoring and to describe predictive factors for this population. Children with a diagnosis of abusive head trauma were studied retrospectively to determine the rate of EEG monitoring, the rate of nonconvulsive seizures and nonconvulsive status epilepticus, and the associated neuroimaging findings...
November 2015: Journal of Child Neurology
Christopher C Giza, Jeffrey S Kutcher, Stephen Ashwal, Jeffrey Barth, Thomas S D Getchius, Gerard A Gioia, Gary S Gronseth, Kevin Guskiewicz, Steven Mandel, Geoffrey Manley, Douglas B McKeag, David J Thurman, Ross Zafonte
OBJECTIVE: To update the 1997 American Academy of Neurology (AAN) practice parameter regarding sports concussion, focusing on 4 questions: 1) What factors increase/decrease concussion risk? 2) What diagnostic tools identify those with concussion and those at increased risk for severe/prolonged early impairments, neurologic catastrophe, or chronic neurobehavioral impairment? 3) What clinical factors identify those at increased risk for severe/prolonged early postconcussion impairments, neurologic catastrophe, recurrent concussions, or chronic neurobehavioral impairment? 4) What interventions enhance recovery, reduce recurrent concussion risk, or diminish long-term sequelae? The complete guideline on which this summary is based is available as an online data supplement to this article...
June 11, 2013: Neurology
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society...
April 4, 2017: Neurology
Kelsey K Wiggs, Zheng Chang, Patrick D Quinn, Kwan Hur, Robert Gibbons, David Dunn, Isabell Brikell, Henrik Larsson, Brian M D'Onofrio
OBJECTIVE: Individuals with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of seizures, but there is uncertainty about whether ADHD medication treatment increases risk among patients with and without preexisting seizures. METHODS: We followed a sample of 801,838 patients with ADHD who had prescribed drug claims from the Truven Health MarketScan Commercial Claims and Encounters databases to examine whether ADHD medication increases the likelihood of seizures among ADHD patients with and without a history of seizures...
March 27, 2018: Neurology
Matthew E Hirschtritt, Paul C Lee, David L Pauls, Yves Dion, Marco A Grados, Cornelia Illmann, Robert A King, Paul Sandor, William M McMahon, Gholson J Lyon, Danielle C Cath, Roger Kurlan, Mary M Robertson, Lisa Osiecki, Jeremiah M Scharf, Carol A Mathews
IMPORTANCE: Tourette syndrome (TS) is characterized by high rates of psychiatric comorbidity; however, few studies have fully characterized these comorbidities. Furthermore, most studies have included relatively few participants (<200), and none has examined the ages of highest risk for each TS-associated comorbidity or their etiologic relationship to TS. OBJECTIVE: To characterize the lifetime prevalence, clinical associations, ages of highest risk, and etiology of psychiatric comorbidity among individuals with TS...
April 2015: JAMA Psychiatry
Monique K LeBourgeois, Lauren Hale, Anne-Marie Chang, Lameese D Akacem, Hawley E Montgomery-Downs, Orfeu M Buxton
Given the pervasive use of screen-based media and the high prevalence of insufficient sleep among American youth and teenagers, this brief report summarizes the literature on electronic media and sleep and provides research recommendations. Recent systematic reviews of the literature reveal that the vast majority of studies find an adverse association between screen-based media consumption and sleep health, primarily via delayed bedtimes and reduced total sleep duration. The underlying mechanisms of these associations likely include the following: (1) time displacement (ie, time spent on screens replaces time spent sleeping and other activities); (2) psychological stimulation based on media content; and (3) the effects of light emitted from devices on circadian timing, sleep physiology, and alertness...
November 2017: Pediatrics
Roger Baxter, Edwin Lewis, Kristin Goddard, Bruce Fireman, Nandini Bakshi, Frank DeStefano, Julianne Gee, Hung Fu Tseng, Allison L Naleway, Nicola P Klein
BACKGROUND:  Case reports have suggested that vaccines may trigger transverse myelitis (TM) or acute disseminated encephalomyelitis (ADEM), but the evidence for a causal association is inconclusive. We analyzed the association of immunization and subsequent development of TM or ADEM. METHODS:  We identified all cases of TM and ADEM in the Vaccine Safety Datalink population. Using a case-centered method, we compared vaccination of each case to vaccination of all matched persons in the study population, who received the same type of vaccine, with respect to whether or not their vaccination occurred during a predetermined exposure interval...
December 1, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Francesc Graus, Maarten J Titulaer, Ramani Balu, Susanne Benseler, Christian G Bien, Tania Cellucci, Irene Cortese, Russell C Dale, Jeffrey M Gelfand, Michael Geschwind, Carol A Glaser, Jerome Honnorat, Romana Höftberger, Takahiro Iizuka, Sarosh R Irani, Eric Lancaster, Frank Leypoldt, Harald Prüss, Alexander Rae-Grant, Markus Reindl, Myrna R Rosenfeld, Kevin Rostásy, Albert Saiz, Arun Venkatesan, Angela Vincent, Klaus-Peter Wandinger, Patrick Waters, Josep Dalmau
Encephalitis is a severe inflammatory disorder of the brain with many possible causes and a complex differential diagnosis. Advances in autoimmune encephalitis research in the past 10 years have led to the identification of new syndromes and biomarkers that have transformed the diagnostic approach to these disorders. However, existing criteria for autoimmune encephalitis are too reliant on antibody testing and response to immunotherapy, which might delay the diagnosis. We reviewed the literature and gathered the experience of a team of experts with the aims of developing a practical, syndrome-based diagnostic approach to autoimmune encephalitis and providing guidelines to navigate through the differential diagnosis...
April 2016: Lancet Neurology
Alan J Thompson, Brenda L Banwell, Frederik Barkhof, William M Carroll, Timothy Coetzee, Giancarlo Comi, Jorge Correale, Franz Fazekas, Massimo Filippi, Mark S Freedman, Kazuo Fujihara, Steven L Galetta, Hans Peter Hartung, Ludwig Kappos, Fred D Lublin, Ruth Ann Marrie, Aaron E Miller, David H Miller, Xavier Montalban, Ellen M Mowry, Per Soelberg Sorensen, Mar Tintoré, Anthony L Traboulsee, Maria Trojano, Bernard M J Uitdehaag, Sandra Vukusic, Emmanuelle Waubant, Brian G Weinshenker, Stephen C Reingold, Jeffrey A Cohen
The 2010 McDonald criteria for the diagnosis of multiple sclerosis are widely used in research and clinical practice. Scientific advances in the past 7 years suggest that they might no longer provide the most up-to-date guidance for clinicians and researchers. The International Panel on Diagnosis of Multiple Sclerosis reviewed the 2010 McDonald criteria and recommended revisions. The 2017 McDonald criteria continue to apply primarily to patients experiencing a typical clinically isolated syndrome, define what is needed to fulfil dissemination in time and space of lesions in the CNS, and stress the need for no better explanation for the presentation...
February 2018: Lancet Neurology
Cynthia A Moore, J Erin Staples, William B Dobyns, André Pessoa, Camila V Ventura, Eduardo Borges da Fonseca, Erlane Marques Ribeiro, Liana O Ventura, Norberto Nogueira Neto, J Fernando Arena, Sonja A Rasmussen
Importance: Zika virus infection can be prenatally passed from a pregnant woman to her fetus. There is sufficient evidence to conclude that intrauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full spectrum of anomalies has not been delineated. To inform pediatric clinicians who may be called on to evaluate and treat affected infants and children, we review the most recent evidence to better characterize congenital Zika syndrome. Observations: We reviewed published reports of congenital anomalies occurring in fetuses or infants with presumed or laboratory-confirmed intrauterine Zika virus infection...
March 1, 2017: JAMA Pediatrics
Christos Ganos, Davide Martino, Tamara Pringsheim
BACKGROUND: Primary tic disorders, notably Tourette syndrome, are very common movement disorders in childhood. However, the management of such patients still poses great therapeutic challenges to medical professionals. METHODS: Based on a synthesis of the available guidelines published in Europe, Canada, and the United States, coupled with more recent therapeutic developments, the authors provide a pragmatic guide to aid clinicians in deciding when and how to treat patients who have primary tic disorders...
March 2017: Movement Disorders Clinical Practice
Cecilia Bonnet, Agathe Roubertie, Diane Doummar, Nadia Bahi-Buisson, Valérie Cochen de Cock, Emmanuel Roze
Developmental and benign movement disorders are a group of movement disorders with onset in the neonatal period, infancy, or childhood. They are characterized by the absence of associated neurological manifestations and by their favorable outcome, although developmental abnormalities can be occasionally observed. Knowledge of the clinical, neurophysiological, and pathogenetic aspects of these disorders is poor. Based on a comprehensive review of the literature and our practical experience, this article summarizes current knowledge in this area...
July 30, 2010: Movement Disorders: Official Journal of the Movement Disorder Society
Anne Koy, Jean-Pierre Lin, Terence D Sanger, Warren A Marks, Jonathan W Mink, Lars Timmermann
Movement disorders in children are causally and clinically heterogeneous and present in a challenging developmental context. Treatment options are broad ranging, from pharmacotherapy to invasive neuromodulation and experimental gene and stem cell therapies. The clinical effects of these therapies are variable and often poorly sustained, and only a few of the management strategies used in paediatric populations have been tested in randomised controlled studies with age-appropriate cohorts. Identification of the most appropriate treatment is uniquely challenging in children because of the incomplete knowledge about the pathophysiology of movement disorders and their influence on normal motor development; thus, effective therapeutic options for these children remain an unmet need...
June 2016: Lancet Neurology
Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel
BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274...
February 15, 2018: New England Journal of Medicine
2019-06-18 18:21:08
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