keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric dystonia

keyword
https://www.readbyqxmd.com/read/29859719/health-related-quality-of-life-for-patients-with-genetically-determined-leukoencephalopathy
#1
Amytice Mirchi, Félixe Pelletier, Luan T Tran, Stephanie Keller, Nancy Braverman, Davide Tonduti, Adeline Vanderver, Amy Pizzino, Marie-Emmanuelle Dilenge, Chantal Poulin, Michael Shevell, Annette Majnemer, Guillaume Sébire, Myriam Srour, Bradley Osterman, Renée-Myriam Boucher, Michel Vanasse, Elsa Rossignol, John Mitchell, Sunita Venkateswaran, Daniela Pohl, Marcelo Kauffman, Raphael Schiffmann, Cyril Goizet, Sebastien Moutton, Federico Roncarolo, Geneviève Bernard
BACKGROUND: We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis. METHODS: Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality of Life Inventory 4.0 Self- and Proxy-reports) on 59 patients diagnosed with genetically determined leukoencephalopathies...
April 9, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29797064/dbs-in-pediatric-patients-institutional-experience
#2
Huseyin Canaz, Isik Karalok, Baris Topcular, Mert Agaoglu, Zuhal Yapici, Sabri Aydin
INTRODUCTION: DBS is initially used for treatment of essential tremor and Parkinson's disease in adults. In 1996, a child with severe life-threatening dystonia was offered DBS to the internal globus pallidus (GPi) with lasting efficacy at 20 years. Since that time, increasing number of children benefited from DBS. PATIENTS AND METHODS: We retrospectively evaluated our database of patients who underwent DBS from 2011 to 2017. All patients ≤ 17 years of age at the time of implantation of DBS were included in this series...
May 24, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29786895/deep-brain-stimulation-treated-dystonia-trajectory-via-status-dystonicus
#3
Elodie Nerrant, Victoria Gonzalez, Christophe Milesi, Xavier Vasques, Diane Ruge, Thomas Roujeau, Isabel De Antonio Rubio, Fabienne Cyprien, Emilie Chan Seng, Diane Demailly, Agathe Roubertie, Alain Boularan, Fréderic Greco, Pierre-François Perrigault, Gilles Cambonie, Philippe Coubes, Laura Cif
BACKGROUND: Status dystonicus (SD) is a life-threatening condition. OBJECTIVE AND METHODS: In a dystonia cohort who developed status dystonicus, we analyzed demographics, background dystonia phenomenology and complexity, trajectory previous to-, via status dystonicus episodes, and evolution following them. RESULTS: Over 20 years, 40 of 328 dystonia patients who were receiving DBS developed 58 status dystonicus episodes. Dystonia was of pediatric onset (95%), frequently complex, and had additional cognitive and pyramidal impairment (62%) and MRI alterations (82...
May 22, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29768338/botulinum-toxin-injection-to-improve-functional-independence-and-to-alleviate-parenting-stress-in-a-child-with-advanced-pantothenate-kinase-associated-neurodegeneration-a-case-report-and-literature-review
#4
REVIEW
Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease. Progressive motor symptoms such as dystonia and spasticity begin in childhood and relentlessly become incapacitating later in life. Treatments including anticholinergics and iron chelation are usually ineffective. Botulinum toxin type A (BoNT-A) is effective for adult patients with dystonia or spasticity. PATIENT CONCERNS: We reported a 10-year-old female patient with advanced PKAN, manifesting as generalized dystonia and spasticity...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766748/medical-cannabis-for-pediatric-moderate-to-severe-complex-motor-disorders
#5
Stephanie Libzon, Lihi Bar-Lev Schleider, Naama Saban, Luda Levit, Yulia Tamari, Ilan Linder, Tally Lerman-Sagie, Lubov Blumkin
A complex motor disorder is a combination of various types of abnormal movements that are associated with impaired quality of life (QOL). Current therapeutic options are limited. We studied the efficacy, safety, and tolerability of medical cannabis in children with complex motor disorder. This pilot study was approved by the institutional ethics committee. Two products of cannabidiol (CBD) enriched 5% oil formulation of cannabis were compared: one with 0.25% δ-9-tetrahydrocannabinol (THC) 20:1 group, the other with 0...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29735120/movement-disorders-and-neurometabolic-diseases
#6
Celanie K Christensen, Laurence Walsh
Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Each movement disorder can be caused by many IEM and several of them can cause multiple movement abnormalities...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29735118/the-twists-of-pediatric-dystonia-phenomenology-classification-and-genetics
#7
Inge A Meijer, Toni S Pearson
This article aims to provide a practical review of pediatric dystonia from a clinician's perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29685658/novel-founder-intronic-variant-in-slc39a14-in-two-families-causing-manganism-and-potential-treatment-strategies
#8
Lance H Rodan, Marissa Hauptman, Alissa M D'Gama, Anita E Qualls, Siqi Cao, Karin Tuschl, Fatma Al-Jasmi, Jozef Hertecant, Susan J Hayflick, Marianne Wessling-Resnick, Edward T Yang, Gerard T Berry, Andrea Gropman, Alan D Woolf, Pankaj B Agrawal
Congenital disorders of manganese metabolism are rare occurrences in children, and medical management of these disorders is complex and challenging. Homozygous exonic mutations in the manganese transporter SLC39A14 have recently been associated with a pediatric-onset neurodegenerative disorder characterized by brain manganese accumulation and clinical signs of manganese neurotoxicity, including parkinsonism-dystonia. We performed whole exome sequencing on DNA samples from two unrelated female children from the United Arab Emirates with progressive movement disorder and brain mineralization, identified a novel homozygous intronic mutation in SLC39A14 in both children, and demonstrated that the mutation leads to aberrant splicing...
June 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29664508/oral-self-mutilation-in-lesch-nyhan-syndrome-case-report
#9
Andrés Campolo González, Alex Vargas Díaz, Daniel Fontboté Riesco, Marta Hernández Chávez
INTRODUCTION: Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT). Compul sive self-mutilation and dystonia occurs before the first year of age and is expressed by persistent bites on the oral mucosa, lips, tongue, fingers, and shoulders. The dental intervention performed on most of these patients is multiple tooth extraction to prevent serious secondary lesions. OBJECTIVE: To present a clinical case of LNS and describe pediatric dentistry management in patients with self-mutilating behavior...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29661126/gnao1-mutation-induced-pediatric-dystonic-storm-rescue-with-pallidal-deep-brain-stimulation
#10
C Michael Honey, Armaan K Malhotra, Maja Tarailo-Graovac, Clara D M van Karnebeek, Gabriella Horvath, Adi Sulistyanto
Dystonic storm or status dystonicus is a life-threatening hyperkinetic movement disorder with biochemical alterations due to the excessive muscle contractions. The medical management can require pediatric intensive care unit admission and a combination of medications while the underlying trigger is managed. Severe cases may require general anesthesia and paralytic agents with intubation and may relapse when these drugs are weaned. Deep brain stimulation of the globus pallidum has been reported to terminate dystonic storm in several pediatric cases...
May 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29628597/anesthetic-management-in-pediatric-patient-for-percutaneous-endoscopic-gastrostomy-with-mitochondrial-myopathy-leigh-syndrome
#11
Ebru Tarikçi Kiliç, Nelgin Gerenli, Mehmet Salim Akdemir, Necmi Onur Tastan, Egemen Atag
Leigh syndrome (LS) is a rare disease mainly affecting the central nervous system due to the abnormalities of mitochondrial energy generation and seen in early childhood with progressive loss of movement, mental abilities, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Anesthesia and surgery exacerbate the risks of aspiration, wheezing, and breathing difficulties. Tracheal irritability can be stimulated with the efforts of intubation. We report the anesthetic management of a rare case of an 11-year-old boy with a severe form of LS for percutaneous endoscopic gastrostomy insertion...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29520331/reversal-of-status-dystonicus-after-relocation-of-pallidal-electrodes-in-dyt6-generalized-dystonia
#12
D L Marinus Oterdoom, Martje E van Egmond, Luisa Cassini Ascencao, J Marc C van Dijk, Assel Saryyeva, Martijn Beudel, Joachim Runge, Tom J de Koning, Mahmoud Abdallat, Hendriekje Eggink, Marina A J Tijssen, Joachim K Krauss
Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available. Case Report: A pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29520252/management-of-refractory-orofacial-dyskinesia-caused-by-anti-n-methyl-d-aspartate-receptor-encephalitis-using-botulinum-toxin
#13
Feixia Zheng, Xiuyun Ye, Xulai Shi, Neha Devi Poonit, Zhongdong Lin
The use of botulinum neurotoxin serotype A (BoNT-A) injections for the treatment of orofacial dyskinesia secondary to anti- N -methyl-d-aspartate receptor (NMDAR) encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29503328/pediatric-movement-disorders
#14
REVIEW
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29500071/transient-regional-cerebral-hypoperfusion-during-a-paroxysmal-hemiplegic-event-in-glut1-deficiency-syndrome
#15
Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29494321/clinical-practice-guideline-hoarseness-dysphonia-update
#16
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients who present with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29494316/clinical-practice-guideline-hoarseness-dysphonia-update-executive-summary
#17
Robert J Stachler, David O Francis, Seth R Schwartz, Cecelia C Damask, German P Digoy, Helene J Krouse, Scott J McCoy, Daniel R Ouellette, Rita R Patel, Charles Charlie W Reavis, Libby J Smith, Marshall Smith, Steven W Strode, Peak Woo, Lorraine C Nnacheta
Objective This guideline provides evidence-based recommendations on treating patients presenting with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia...
March 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29475818/outcome-measures-for-children-with-movement-disorders
#18
REVIEW
Emanuela Pagliano, Giovanni Baranello, Riccardo Masson, Maria Foscan, Maria Teresa Arnoldi, Alessia Marchi, Giorgia Aprile, Chiara Pantaleoni
The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitation for dystonia in the last decade. It is now generally agreed that a multidimensional therapeutic approach is needed for children with motor disorders, whose motor function-conceived as a complex perceptive, motor and cognitive process - is impaired at a crucial time in their development, with a fall out on how their various adaptive functions evolve...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29396174/diagnosis-and-treatment-of-pediatric-onset-isolated-dystonia
#19
REVIEW
Giovanna Zorzi, Miryam Carecchio, Federica Zibordi, Barbara Garavaglia, Nardo Nardocci
Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined...
March 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29372853/a-standardized-protocol-to-reduce-pediatric-baclofen-pump-infections-a-quality-improvement-initiative
#20
Virendra R Desai, Jeffrey S Raskin, Arvind Mohan, JoWinsyl Montojo, Valentina Briceño, Daniel J Curry, Sandi Lam
OBJECTIVE Intrathecal baclofen pumps are generally placed in children for the treatment of spasticity and dystonia. Use of implants in this pediatric population with comorbidities is reported to have a high risk of complications and infections. With the aim of reducing baclofen pump-related infections, a quality improvement project was instituted at the authors' institution. METHODS A workflow paradigm unique to baclofen pump implantation aimed at decreasing implant-related infections was implemented. All baclofen pump operations performed at the authors' institution between August 2012 and June 2016 were reviewed...
April 2018: Journal of Neurosurgery. Pediatrics
keyword
keyword
32040
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"