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Journal of Child Neurology

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https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28420301/seizures-in-pediatric-patients-with-liver-transplant-and-efficacy-of-levetiracetam
#10
Betül Kılıç, Serdal Güngör, Müjgan Arslan, Mukadder Ayşe Selimoğlu, Sezai Yılmaz
The aim of this study was to evaluate the risk factors, clinical implications, and prognosis of new-onset seizures that occurred after pediatric liver transplantation, and to assess the efficacy of levetiracetam treatment. The clinical and laboratory data of liver transplanted 28 children who had seizures after liver transplantation and specifically of 18 children who received levetiracetam were analyzed retrospectively. Sixteen patients (88.9%) remained seizure-free and in 2 (11.1%), more than 50% reduction in seizures were detected with levetiracetam treatment...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28399683/kcnq2-associated-neonatal-epilepsy-phenotype-might-correlate-with-genotype
#11
Inn-Chi Lee, Jiann-Jou Yang, Jao-Shwann Liang, Tung-Ming Chang, Shuan-Yow Li
We analyzed the KCNQ2 wild-type gene and 3 mutations to highlight the important association between the KCNQ2 phenotype and genotype. The clinical phenotypes of 3 mutations (p.E515D, p.V543 M, and p.R213Q) were compared. KCNQ2, wild-type, and mutant KCNQ2 alleles were transfected into HEK293 cells before whole-cell patch-clamp analysis. Neurodevelopmental outcomes were worst in patients with the p.R213Q mutation, better in patients with the p.E515D mutation, and best in patients with the novel p.V543 M mutation...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28399682/clinical-molecular-and-computational-analysis-in-patients-with-a-novel-double-mutation-and-a-new-synonymous-variant-in-mecp2-report-of-the-first-missense-mutation-within-the-at-hook1-cluster-in-rett-syndrome
#12
Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh
Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type and the clinical severity. Two double MeCP2 mutations were detected: a novel one (p.G185 V in cis with p.R255X) in P1 and a known one (p.P179 S in cis with p.R255X) in P2. Besides, a novel synonymous mutation (c.807C>T; p.G269G), which could affect mRNA splicing, was identified in P3...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28393667/disability-quality-of-life-and-pain-coping-in-pediatric-migraine-an-observational-study
#13
Serena L Orr, Suzanne N Christie, Salwa Akiki, Hugh J McMillan
OBJECTIVES: The objective was to examine the relationship between disability, health-related quality of life (HrQoL), and pain coping in pediatric migraineurs. METHOD: Eighty-five patients with migraine were recruited from Pediatric Neurology clinics. Participants completed the Pediatric Migraine Disability Assessment Scale, the Pediatric Quality of Life Inventory, the Pain Coping Questionnaire, and the Pain Catastrophizing Scale. Means were compared to published norms using t-tests...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28511631/reversible-cerebral-vasoconstriction-syndrome-in-pediatrics-a-case-series-and-review
#14
Samantha W Coffino, Robert H Fryer
Reversible cerebral vasoconstriction syndrome is a transient vasculopathy associated with severe headaches and stroke. In most cases of reversible cerebral vasoconstriction syndrome, there is a precipitating event or trigger, such as pregnancy, serotonin agonist treatment or illicit drug use. The authors present 2 pediatric cases of reversible cerebral vasoconstriction syndrome and review the previous 11 pediatric cases in the literature. In many instances, the clinical and radiographic features are similar in both pediatric and adult cases...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28511630/corpus-callosotomy-for-intractable-epilepsy-revisited-the-children-s-hospital-of-michigan-series
#15
Aimee F Luat, Eishi Asano, Ajay Kumar, Harry T Chugani, Sandeep Sood
Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/3 followed later by complete callosotomy. Ten had endoscopic approach. In all, 65% had ≥ 50% reduction of generalized seizures leading to falls (atonic, tonic, myoclonic); 35% became seizure-free (follow-up period: 6 months to 9 years; mean 3 years)...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28511629/letter-to-the-editor-re-zeidman-la-stone-j-kondziella-d-new-revelations-about-hans-berger-father-of-the-electroencephalogram-eeg-and-his-ties-to-the-third-reich-j-child-neurol-2014-29-1002-1010
#16
https://www.readbyqxmd.com/read/28393671/secondary-conditions-among-males-with-duchenne-or-becker-muscular-dystrophy
#17
Rebecca Latimer, Natalie Street, Kristin Caspers Conway, Kathy James, Christopher Cunniff, Joyce Oleszek, Deborah Fox, Emma Ciafaloni, Christina Westfield, Pangaja Paramsothy
Duchenne and Becker muscular dystrophy are X-linked neuromuscular disorders characterized by progressive muscle degeneration. Despite the involvement of multiple systems, secondary conditions among affected males have not been comprehensively described. Two hundred nine caregivers of affected males (aged 3-31 years) identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network completed a mailed survey that included questions about secondary conditions impacting multiple body functions. The 5 most commonly reported conditions in males with Duchenne were cognitive deficits (38...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28359187/prediction-of-future-epilepsy-in-neonates-with-hypoxic-ischemic-encephalopathy-who-received-selective-head-cooling
#18
Tiffani L McDonough, Juliann M Paolicchi, Linda A Heier, Nikkan Das, Murray Engel, Jeffrey M Perlman, Zachary M Grinspan
Epilepsy outcomes after therapeutic hypothermia for neonates with hypoxic-ischemic encephalopathy are understudied. The authors used multivariable logistic regression to predict epilepsy in neonates after selective head cooling. Sensitivity analyses used magnetic resonance imaging (MRI) and electroencephalogram (EEG) interpretations by different clinicians. Fifty neonates had 2-year follow-up. Nine developed epilepsy. Predictors included pH ≤6.8 on day of birth (adjusted odds ratio [OR] 19 [95% confidence interval (CI) 1-371]), burst suppression on EEG on day 4 (8...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28349774/increasing-ketamine-use-for-refractory-status-epilepticus-in-us-pediatric-hospitals
#19
Sotirios Keros, Ersida Buraniqi, Byron Alex, Annalee Antonetty, Hugo Fialho, Baria Hafeez, Michele C Jackson, Rachel Jawahar, Stephanie Kjelleren, Elizabeth Stewart, Lindsey A Morgan, Mark S Wainwright, Yoshimi Sogawa, Anup D Patel, Tobias Loddenkemper, Zachary M Grinspan
Ketamine is an emerging therapy for pediatric refractory status epilepticus. The circumstances of its use, however, are understudied. The authors described pediatric refractory status epilepticus treated with ketamine from 2010 to 2014 at 45 centers using the Pediatric Hospital Inpatient System database. For comparison, they described children treated with pentobarbital. The authors estimated that 48 children received ketamine and pentobarbital for refractory status epilepticus, and 630 pentobarbital without ketamine...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28424010/olfactory-development-part-1-function-from-fetal-perception-to-adult-wine-tasting
#20
REVIEW
Harvey B Sarnat, Laura Flores-Sarnat, Xing-Chang Wei
Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also documented by late prenatal and postnatal MRI. Olfactory axons project from nasal epithelium to telencephalon before olfactory bulbs form. Fetal olfactory maturation remains incomplete at term for neuronal differentiation, synaptogenesis, myelination, and persistence of the transitory fetal ventricular recess...
May 2017: Journal of Child Neurology
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