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Journal of Child Neurology

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https://www.readbyqxmd.com/read/29129156/a-case-of-kcnq2-associated-movement-disorder-triggered-by-fever
#1
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29129155/transgenerational-inheritance-of-familial-lipomyelomeningocele
#2
Thomas Larrew, Ramin Eskandari, Kenton R Holden, Amy Chen, Catherine J Spellicy, Julie R Jones, Jennifer A Lee, Michael J Lyons
Lipomyelomeningocele is a type of neural tube defect characterized by lipomatous tissue causing a defect in the vertebrae, infiltrating the dura, and tethering the spinal cord. Despite significant neurologic consequences, the underlying etiology remains poorly understood. We present a father and son with remarkably similar presentations of lipomyelomeningocele. Genetic testing did not reveal an underlying cause but whole exome sequencing identified variants in the ARHGAP29 and RADIL genes in the proband and his affected father...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29129154/predictors-of-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#3
Anna Jeong, Jo Anne Nakagawa, Michael Wong
Utilizing the multicenter TSC (tuberous sclerosis complex) Natural History Database including 2034 subjects, this study aimed to identify predictors of drug-resistant epilepsy in TSC. Basic epilepsy data were available for 1965 individuals in the database. Supplemental data were further collected from 1546 of these subjects through directed site queries, addressing additional epilepsy characteristics including the presence of drug-resistant epilepsy, therapies trialed, and outcomes of specific therapies. Epilepsy was reported in 86...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#4
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29129152/attention-deficit-hyperactivity-disorder-adhd-in-epilepsy-and-primary-adhd-differences-in-symptom-dimensions-and-quality-of-life
#5
Ozalp Ekinci, Çetin Okuyaz, Semra Erdoğan, Serkan Gunes, Nuran Ekinci, Merve Kalınlı, Halenur Teke, Meltem Çobanoğulları Direk
PURPOSE: We aimed to (1) compare quality of life (QOL) among children with epilepsy, epilepsy and attention-deficit hyperactivity disorder (ADHD), and primary ADHD and (2) compare ADHD symptom dimensions and subtypes between children with epilepsy-ADHD and primary ADHD. METHODS: A total of 140 children; 53 with epilepsy, 35 with epilepsy-ADHD, and 52 with primary ADHD were included. KINDL-R (quality of life measure), Turgay DSM-IV Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), and Conners' Parent Rating Scale (CPRS) were completed...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29129151/false-positive-diagnosis-of-brain-death-following-the-pediatric-guidelines-case-report-and-discussion
#6
D Alan Shewmon
A 2-year-old boy with severe head trauma was diagnosed brain dead according to the 2011 Pediatric Guidelines. Computed tomographic (CT) scan showed massive cerebral edema with herniation. Intracranial pressures were extremely high, with cerebral perfusion pressures around 0 for several hours. An apnea test was initially contraindicated; later, one had to be terminated due to oxygen desaturation when the Pco2 had risen to 57.9 mm Hg. An electroencephalogram (EEG) was probably isoelectric but formally interpreted as equivocal...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29192536/jcn-calendar-of-events
#7
(no author information available yet)
No abstract text is available yet for this article.
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29046137/magnetic-resonance-imaging-mri-and-digital-subtraction-angiography-investigation-of-childhood-moyamoya-disease
#8
Peiji Song, Jing Qin, Han Lun, Penggang Qiao, Anming Xie, Gongjie Li
Because digital subtraction angiography (DSA) is not an ideal angiographic examination for moyamoya disease in the pediatric population, magnetic resonance angiography (MRA) provides a noninvasive contrast-free angiographic examination; whereas magnetic resonance imaging (MRI) provides superior spatial resolution and soft-tissue contrast for lesion assessment. Ninety patients with moyamoya disease were examined by MRI and DSA to assess the distribution of lesions and their diagnostic agreement between modalities...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29046136/phenotype-development-in-adolescents-with-tourette-syndrome-a-large-clinical-longitudinal-study
#9
Camilla Groth, Nanette Mol Debes, Liselotte Skov
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without OCD or ADHD) at baseline and 55% at follow-up...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29046135/correspondence-letter-to-the-editor-regarding-anesthetic-related-neurotoxicity-and-neuroimaging-in-children-a-call-for-conversation-by-bjur-payne-nemergut-et-al
#10
Ekeoduru Rhashedah, Tariq Sarah
No abstract text is available yet for this article.
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28925315/prognostic-value-of-brain-magnetic-resonance-imaging-in-neonatal-hypoxic-ischemic-encephalopathy-a-meta-analysis
#11
Iván Sánchez Fernández, J Leon Morales-Quezada, Samuel Law, Paggie Kim
OBJECTIVE: To quantify the prognostic value of neonatal brain magnetic resonance imaging (MRI) in neonatal hypoxic-ischemic encephalopathy. METHODS: Meta-analysis of studies with ≥35-week neonates with hypoxic-ischemic encephalopathy who underwent brain MRI within age 4 weeks and had neurodevelopmental follow-up for at least 12 months. RESULTS: An abnormal neonatal brain MRI was more frequent among patients with unfavorable neurodevelopmental outcome: odds ratio = 18...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28914131/safety-and-efficacy-of-repeat-open-label-abobotulinumtoxina-treatment-in-pediatric-cerebral-palsy
#12
Mauricio R Delgado, Marcin Bonikowski, Jorge Carranza, Edward Dabrowski, Dennis Matthews, Barry Russman, Ann Tilton, Juan Carlos Velez, Anne-Sophie Grandoulier, Philippe Picaut
This was a prospective, repeat-treatment, open-label study (NCT01251380) of abobotulinumtoxinA for the management of lower limb spasticity in children who had completed a double-blind study. Children (2-17 years) received injections into the gastrocnemius-soleus complex, and other distal and proximal muscles as required (maximum total dose per injection cycle: 30 U/kg or 1000U). A total of 216 of the 241 double-blind patients entered the extension study and 207 received ≥1 open label injection into the gastrocnemius-soleus; 17-24% of patients also had injections into the hamstrings...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28879801/systematic-review-and-meta-analysis-of-seizure-recurrence-after-a-first-unprovoked-seizure-in-815-neurologically-and-developmentally-normal-children
#13
Joanna Garcia Pierce, Stephen Aronoff, Michael Del Vecchio
Limited data exist for health care providers regarding seizure recurrence after a first unprovoked seizure in previously neurologically and developmentally normal children. A systematic review and meta-analysis was conducted to assess seizure recurrence after a first unprovoked seizure by performing an electronic search in PubMed, Embase, and Scopus. Six studies from 2817 met the inclusion criteria. The sample size consisted of 815 neurologically and developmentally normal children (1 month-17.5 years) on no antiepileptic drugs...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28854844/the-sleep-hygiene-inventory-for-pediatrics-development-and-validation-of-a-new-measure-of-sleep-in-a-sample-of-children-and-adolescents-with-chronic-headache
#14
Jonathan Rabner, Karen J Kaczynski, Laura E Simons, Alyssa A Lebel
Sleep plays a pivotal role in children and adolescents with headache. Although several sleep measures exist, no developed measures target the sleep issues common in pediatric patients with headache. The Sleep Hygiene Inventory for Pediatrics (SHIP) was developed for clinical purposes to fulfill this need. The aim of this study was to validate the SHIP for potential research applications in a sample of 1078 children and adolescents (7-17 years) with a primary headache diagnosis. Measure validation included assessments of internal consistency, construct validity, and criterion validity...
November 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28911278/measurement-of-sedentary-behaviors-or-downtime-in-rett-syndrome
#15
Michelle Stahlhut, Kylie Hill, Anne-Marie Bisgaard, Anne Kjersgaard Jensen, Michaela Andersen, Helen Leonard, Jenny Downs
This study aimed to validate measures of sedentary time in individuals with Rett syndrome. Twenty-six individuals (median [IQR] age 16.0 (9.4-20.6) years) wore an activPAL accelerometer during video-taped activities and agreement was determined between sedentary time determined by the activPAL and observation. For 11 individuals (median [IQR] age 14.5 (11.5-25.6) years), linear regression was used to determine the relationship between sedentary time recorded on the modified Bouchard activity record diary card and measured using the activPAL...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28911277/analysis-of-different-melatonin-secretion-patterns-in-children-with-sleep-disorders-melatonin-secretion-patterns-in-children
#16
Ana Checa-Ros, Antonio Muñoz-Hoyos, Antonio Molina-Carballo, Antonio Muñoz-Gallego, Susana Narbona-Galdó, Antonio Jerez-Calero, María Del Carmen Augustín-Morales
The objective of this study was to analyze circadian patterns of urinary 6-sulphatoxymelatonin (aMT6s) excretion in children with primary sleep disorders in comparison with healthy controls. A total of 124 control children and 124 patients (aged 4-14 years) diagnosed with diverse primary sleep disorders were recruited. aMT6s concentrations were measured in diurnal and nocturnal urine, as well as in 24-hour urine. aMT6s levels were significantly higher and showed significantly more evident circadian variations in the control group ( P < ...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28831857/paranasal-sinus-disease-in-children-with-headache
#17
Ronan J Vieira Neto, Karine C S Teixeira, Marilisa M Guerreiro, Maria Augusta Montenegro
BACKGROUND: Sinus headache is one of the most frequent misdiagnosis given to children with headache. The objective of this study is to evaluate the frequency of sinus disease in children with headache that do not fulfill the criteria for headache attributed to disorder of the nose or paranasal sinuses. METHODS: This is a prospective study conducted at the authors' pediatric neurology clinic. Data from children with headache was evaluated and compared with a disease control group composed of children without history of headache...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28828924/use-of-ancillary-tests-when-determining-brain-death-in-pediatric-patients-in-the-united-states
#18
Ariane Lewis, Nellie Adams, Arun Chopra, Matthew P Kirschen
Although pediatric brain death guidelines stipulate when ancillary testing should be used during brain death determination, little is known about the way these recommendations are implemented in clinical practice. We conducted a survey of pediatric intensivists and neurologists in the United States on the use of ancillary testing. Although most respondents noted they only performed an ancillary test if the clinical examination and apnea test could not be completed, 20% of 195 respondents performed an ancillary test for other reasons, including (1) to convince a family that objected to the brain death determination that a patient is truly dead (n = 21), (2) personal preference (n = 14), and (3) institutional requirement (n = 5)...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28828916/magnetoencephalographic-identification-of-epileptic-focus-in-children-with-generalized-electroencephalographic-eeg-features-but-focal-imaging-abnormalities
#19
Garima Shukla, Jin Kazutaka, Ajay Gupta, John Mosher, Stephen Jones, Andreas Alexopoulos, Richard C Burgess
PURPOSE: Children with generalized seizures are often excluded as epilepsy surgery candidates. This prospective study was conducted to evaluate the utility of magnetoencephalography (MEG) to refine the location of the "irritative zone" in children with single lesions on magnetic resonance imaging (MRI) but with generalized ictal electroencephalographic (EEG) findings. METHODS: Patients admitted with refractory epilepsy with imaging studies showing focal or hemispheric abnormalities but scalp video EEG showing generalized or multiregional epileptiform abnormalities were included...
October 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28820014/postinfectious-anti-myelin-oligodendrocyte-glycoprotein-antibody-positive-optic-neuritis-and-myelitis
#20
J P Vieira, J Sequeira, M J Brito
We report the case of a 9-year-old girl admitted with fever, headache, and a cerebrospinal fluid lymphocytic pleocytosis. Polymerase chain reaction was positive for human herpes virus 6. She subsequently developed ataxia and bilateral loss of vision. Magnetic resonance imaging (MRI) showed bilateral optic nerve lesions with extension to optic chiasm and a short-segment myelitis. Serologic studies were positive for Borrelia burgdorferi IgM. Anti-aquaporin 4 antibody was negative and anti-myelin oligodendrocyte glycoprotein antibody (MOG) positive...
October 2017: Journal of Child Neurology
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