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Journal of Child Neurology

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https://www.readbyqxmd.com/read/28814169/jcn-calendar-of-events
#1
(no author information available yet)
No abstract text is available yet for this article.
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#2
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28635418/infantile-spasms-and-injuries-of-prematurity-short-term-treatment-based-response-and-long-term-outcomes
#3
Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp
The association of infantile spasms and periventricular leukomalacia and/or intraventricular hemorrhage is well documented. Data regarding early treatment-based and long-term outcomes are limited. A retrospective chart review identified children with infantile spasms born prematurely (<37 weeks) with diagnoses of periventricular leukomalacia and/or intraventricular hemorrhage. Thirteen children were included. Median gestational age was 30 weeks and age of onset of infantile spasms was 8 months. Nine children had intraventricular hemorrhage, 10 had periventricular leukomalacia, and 6 children had both...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28617074/autism-symptoms-in-fragile-x-syndrome
#4
Manman Niu, Ying Han, Angel Belle C Dy, Junbao Du, Hongfang Jin, Jiong Qin, Jing Zhang, Qinrui Li, Randi J Hagerman
Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined whether the symptoms in patients with FXS differ from the symptoms in patients without ASD or nonsyndromic ASD. Behavioral similarities and differences between FXS and ASD are important to improve our understanding of the causes and correlations of ASD with FXS...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28604158/a-stepwise-approach-decreasing-infection-in-deep-brain-stimulation-for-childhood-dystonic-cerebral-palsy
#5
Stephen J Johans, Kevin N Swong, Ryan C Hofler, Douglas E Anderson
Dystonia is a movement disorder characterized by involuntary muscle contractions, which cause twisting movements or abnormal postures. Deep brain stimulation has been used to improve the quality of life for secondary dystonia caused by cerebral palsy. Despite being a viable treatment option for childhood dystonic cerebral palsy, deep brain stimulation is associated with a high rate of infection in children. The authors present a small series of patients with dystonic cerebral palsy who underwent a stepwise approach for bilateral globus pallidus interna deep brain stimulation placement in order to decrease the rate of infection...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28604149/risk-of-second-seizure-in-pediatric-patients-with-idiopathic-autism
#6
Asad A Qadir, Emily Obringer, Joseph Hageman, Charles Marcuccilli
PURPOSE: Epilepsy is a comorbidity of idiopathic autism spectrum disorder. The aim was to characterize the risk and time of second seizure in children with idiopathic autism spectrum disorder. METHODS: A retrospective review was performed at the University of Chicago and NorthShore University HealthSystem. Patients with idiopathic autism spectrum disorder, ≥1 seizure, and age 2 to 23 years were included. RESULTS: 153 patients were included; 141 (92%) had a second seizure...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28597716/postmortem-whole-exome-sequencing-identifies-novel-eif2b3-mutation-with-prenatal-phenotype-in-2-siblings
#7
Hannah Song, Sina Haeri, Hannes Vogel, Marjo van der Knaap, Keith Van Haren
OBJECTIVE: We describe 2 male siblings with a severe, prenatal phenotype of vanishing white matter disease and the impact of whole exome sequencing on their diagnosis and clinical care. METHODS: The 2 children underwent detailed clinical characterization, through clinical and laboratory testing, as well as prenatal and postnatal imaging. Biobanked blood from the 2 siblings was submitted for whole exome sequencing at Baylor Laboratories. RESULTS: Both male children had abnormal prenatal neuroimaging and suffered precipitous, fatal neurologic decline...
September 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28715954/book-review-imaging-of-neurodegenerative-disorders-kanekar-sg-imaging-of-neurodegenerative-disorders-new-york-ny-thieme-2016-385-pp-189-99-isbn-978-1-60406-854-2
#8
https://www.readbyqxmd.com/read/28715953/jcn-calendar-of-events
#9
(no author information available yet)
No abstract text is available yet for this article.
August 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28715952/41st-annual-southern-pediatric-neurology-society-meeting
#10
(no author information available yet)
No abstract text is available yet for this article.
August 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28715951/book-review-pellock-s-pediatric-epilepsy-diagnosis-and-therapy-pellock-jm-nordli-dr-sankar-r-wheless-jw-pellock-s-pediatric-epilepsy-diagnosis-and-therapy-4th-ed-new-york-ny-demos-medical-2016-1228-pp-275-00-isbn-9781620700730
#11
https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#12
Siddharth Srivastava, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin
ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy...
August 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28503985/diagnostic-and-therapeutic-management-of-a-first-unprovoked-seizure-in-children-and-adolescents-with-a-focus-on-the-revised-diagnostic-criteria-for-epilepsy
#13
Arnold J Sansevere, Jennifer Avalone, Lauren Doyle Strauss, Archana A Patel, Anna Pinto, Maya Ramachandran, Ivan Sanchez Fernandez, Ann M Bergin, Amir Kimia, Phillip L Pearl, Tobias Loddenkemper
By definition, unprovoked seizures are not precipitated by an identifiable factor, such as fever or trauma. A thorough history and physical examination are essential to caring for pediatric patients with a potential first unprovoked seizure. Differential diagnosis, EEG, neuroimaging, laboratory tests, and initiation of treatment will be reviewed. Treatment is typically initiated after 2 unprovoked seizures, or after 1 seizure in select patients with distinct epilepsy syndromes. Recent expansion of the definition of epilepsy by the ILAE allows for the diagnosis of epilepsy to be made after the first seizure if the clinical presentation and supporting diagnostic studies suggest a greater than 60% chance of a second seizure...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28482735/psychometric-properties-of-the-psychosocial-assessment-tool-chronic-pain-version-in-families-of-children-with-headache
#14
Kristine Woods, Sarah Ostrowski-Delahanty
Children with headache disorders are at increased psychosocial risk, and no validated screening measures exist to succinctly assess for risk. This study examined the psychometric properties of the Psychosocial Assessment Tool-Chronic Pain, a previously adapted screening measure of risk, in a retrospective sample of families of children diagnosed with headaches. Participants included 127 children and caregivers presenting for behavioral health evaluation of headache. Children and their primary caregivers completed several psychosocial assessment measures...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28464723/genetic-landscape-of-congenital-myasthenic-syndromes-from-turkey-novel-mutations-and-clinical-insights
#15
Uluç Yiş, Kerstin Becker, Semra Hız Kurul, Gökhan Uyanik, Erhan Bayram, Göknur Haliloğlu, Ayşe İpek Polat, Müge Ayanoğlu, Derya Okur, Ayşe Fahriye Tosun, Gül Serdaroğlu, Sanem Yilmaz, Haluk Topaloğlu, Banu Anlar, Sebahattin Cirak, Andrew G Engel
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28459170/clinical-features-and-neurologic-complications-of-children-hospitalized-with-chikungunya-virus-in-honduras
#16
José A Samra, Nancy L Hagood, Andrea Summer, Marco T Medina, Kenton R Holden
The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and admitted to the National Autonomous University of Honduras Hospital Escuela (Hospital Escuela) in Tegucigalpa, Honduras, was accomplished with patients who were assessed for clinical features and neurologic complications...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28436283/trigger-factors-in-childhood-migraine-a-prospective-clinic-based-study-from-north-of-france
#17
Lise Solotareff, Jean-Christophe Cuvellier, Alain Duhamel, Louis Vallée, Sylvie Nguyen The Tich
The objective was to study the prevalence and characterization of pediatric migraine triggers and to compare results to this retrospective study. A total of 101 pediatric patients with ICHD-II migraine with and/or without aura were instructed to prospectively complete a diary dealing with attacks triggers for a 3-month period. Each subject reported at least 1 trigger (range: 1-14) with a total number of 532 attacks and a median per subject of 3. Lack of sleep (51.4%), stress (44.6%), warm climate (41.9%), noise (32...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28429607/thalamic-hemorrhagic-stroke-in-the-term-newborn-a-specific-neonatal-syndrome-with-non-uniform-outcome
#18
Laura Merlini, Sylviane Hanquinet, Joel Fluss
BACKGROUND: Neonatal thalamic hemorrhagic stroke is related to cerebral sinus venous thrombosis and associated with neurological sequelae. Predicting factors are however lacking. METHODS: Clinical and radiological findings at onset and on follow-up of 5 neonates with thalamic hemorrhage stroke are described. RESULTS: All neonates presented with abrupt lethargy, ophistotonos, irritability and/or seizures. The thalamic hemorrhagic stroke was most often unilateral (4/5), involving the posterior/entire thalamus in 3 cases and the anterior thalamus in 2...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28429606/parent-and-patient-perceptions-of-functional-impairment-due-to-tourette-syndrome-development-of-a-shortened-version-of-the-child-tourette-syndrome-impairment-scale
#19
Kara S Francis Barfell, Ryan R Snyder, Kelly M Isaacs-Cloes, Jordan F Garris, Alyssa R Roeckner, Paul S Horn, Michael D Guthrie, Steve W Wu, Donald L Gilbert
The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD)...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28420309/a-proton-magnetic-resonance-spectroscopic-study-in-autism-spectrum-disorder-using-a-3-tesla-clinical-magnetic-resonance-imaging-mri-system-the-anterior-cingulate-cortex-and-the-left-cerebellum
#20
Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Aya Goji, Yoko Abe, Masahito Miyazaki, Shoji Kagami
The pathophysiology of autism spectrum disorder (ASD) is not fully understood. We used proton magnetic resonance spectroscopy to investigate metabolite concentration ratios in the anterior cingulate cortex and left cerebellum in ASD. In the ACC and left cerebellum studies, the ASD group and intelligence quotient- and age-matched control group consisted of 112 and 114 subjects and 65 and 45 subjects, respectively. In the ASD group, γ-aminobutyric acid (GABA)+/ creatine/phosphocreatine (Cr) was significantly decreased in the anterior cingulate cortex, and glutamate (Glu)/Cr was significantly increased and GABA+/Cr was significantly decreased in the left cerebellum compared to those in the control group...
July 2017: Journal of Child Neurology
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