Linear Nevus Sebaceum Syndrome and Infantile Spasms
Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.
Phenobarbital, Linear Nevus Sebaceum Syndrome, Urological Abnormalities
Magnetic resonance (MR) findings in a 12-month-old boy with congenital unilateral facial palsy and a 9-month-old girl with atypical Moebius syndrome are reported from the National Center of Neurology and Psychiatry, Kodaira, Japan.
Moebius Syndrome, Magnetic Resonance, 3D-Constructive Interference in Steady State
Histochemical Abnormalities in Various Forms of Congenital Muscular Dystrophy
A large Australasian cohort of patients with congenital muscular dystrophy (CMD) was screened to determine the frequency of various forms, in a study at Children's Hospital at Westmead; the University of Sydney; University of Melbourne, Australia; and University of Nevada, Reno; and University of Illinois, Chicago.
Neonatal Diagnosis and Treatment of Menkes Disease
Infants diagnosed with Menkes disease early by plasma neurochemical methods and treated early, within 22 days after birth, with copper replacement therapy, had a 92% survival rate vs 13% in those treated late, Median follow-up in 12 newborns treated early was 4.6 years compared to 1.8 years in 15 diagnosed and treated late.
Seroprevalence of Neuromyelitis Optica-IgG of Childhood Compared to Adults
The clinical and radiological characteristics and serostatus of neuromyelitis optica (NMO)-IgG in 87 children with inflammatory demyelinating CNS disorders were analyzed in a study at the Mayo Clinic, Rochester, MN, and other centers in the US, Canada, and Argentina.
Reversible Valproate Hepatotoxicity and Associated Mitochondrial Disease
A 2-year-old boy with seizures complicated by reversible valproate-induced hepatic failure was subsequently found to have mitochondrial polymerase g gene (POLG1) mutations typical of Alpers-Huttenlocher disease, in a study at Newcastle University, UK.
Pertussis Vaccination, Epilepsy and SCN1A Mutation
Literature regarding pertussis vaccination and risk of encephalopathy and/or epilepsy is reviewed by researchers from UCL Institute of Neurology, London, UK, and North Illinois University, DeKalb, IL, USA.
Factors that predict recurrence of febrile seizures (FS) were determined in a prospective study of 260 children age 3 months to 6 years followed for a median of 4.3 years after the first FS at Ippokratio Hospital, Aristotle University of Thessaloniki, Greece.
The eleciroclinical features and evolution of childhood occipital epilepsy of Gastaut (COE-G) are analyzed in a study of 33 patients identified and followed between 1990 and 2007 at the Hospital National de Pediatria, Buenos Aires, Argentina.
A multicenter, double-blind, placebo-controlled, fixed-dosage escalation study of an extended release formulation of guanfacine is reported from the Massachusetts General Hospital, Boston, and other centers in the US and UK.
Genetic Variation in Calcium Channel Gene in Idiopathic Generalized Epilepsies
Researchers at Women's And Children's Hospital, North Adelaide, and other centers in Australia and Canada screened 240 individuals from 167 families with idiopathic generalized epilepsy and generalized epilepsy with febrile seizures plus (GEFS + ) and 95 controls for variants in the CACNA1H gene.
Corticospinal Dysgenesis and Congenital Hemiplegia
A diffusion tensor imaging technique was compared with conventional MRI to measure and quantify corticospinal dysgenesis in 12 patients with congenital hemiplegia and 12 matched control subjects, in a study at Universite Catholique de Louvain, Brussels, Belgium.
Ipsilateral Corticospinal Projections from Noninfarcted Cortex in Hemiplegic Cerebral Palsy
Transcranial magnetic stimulation (TMS) was used to characterize corticospinal tract development from each hemisphere over the first 2 years in 13 patients with perinatal stroke compared to 46 healthy controls, in a study at University of Newcastle, Newcastle on Tyne, UK; and University of Pisa, Italy.
Noninfarcted Hemisphere, Ipsilateral Corticospinal Axons, Transcranial Magnetic Stimulation
Malformations of the brainstem in 138 patients identified aver a 10 year period are classified according to MRI findings and by embryological cause in a study at University of California at San Francisco, and University of Chicago, IL.
Disorder of Brainstem, Segmental Hypoplasia, Segmentation Anomalies
Etiology and Treatment of Developmental Stammering
The etiology and treatment of developmental stammering in childhood (DS, also called idiopathic stammering or stuttering) are reviewed by a speech pathologist and psychologist at the University of Reading, UK.
Developmental Outcome of Very Preterm Infants at Adolescence Correlated with Grey and White Matter Abnormalities on MRI
MRI data of brains of 218 adolescents (ages 14-15 years) born very preterm, < 33 weeks gestation (VPT), and 128 controls bom at term were compared, using voxel-based morphometry, and the findings correlated with neurodevelopmental outcome in a study at King's College London Institute of Psychiatry and Centre for Neuroimaging Sciences, Maudsley NHS Trust, London, UK.
Investigators from Leiden University, the Netherlands, used quantitative MR imaging to study brain microstructure in 30 patients with Duchenne muscular dystrophy (DMD) and 22 age-matched controls (age 8-18 years).
Central Nervous System, Duchenne Muscular Dystrophy, Cardiomyopathy
Investigators at Robert Debre Hospital and Paris Diderot University, Paris, France, and Basildon University Hospital, Essex, UK, conducted a prospective study of 101 children aged 6-18 years presenting to the ED of a tertiary hospital with moderate to severe headache and focal neurologic deficit with focal brain disturbance.
ADHD, Visual Selective Inattention, and Benign Rolandic Epilepsy
Investigators at Asan Children's Hospital, Seoul, Republic of Korea, performed a retrospective study of the prevalence of ADHD in benign childhood epilepsy with centrotemporal spikes (BECTS) and the factors that affect ADHD or attention impairment in patients with BECTS.
The Retina as a Surrogate Marker for Pediatric Cerebral Malaria
Investigators from Malawi-Liverpool-Wellcome Trust Research Program, Malawi; University of Liverpool, UK; Michigan State University, USA; Vancouver General Hospital, Canada; and Ophthalmology Centers in Edinburgh, UK, review the evidence for associations between retina and brain neurovasculature, and the extent to which malarial retinopathy reflects cerebrovascular damage.
Investigators at the Mayo Clinic, Rochester, MN, report the sensitivity and specificity of the pediatric EMG in the diagnosis of myopathic disorders in patients <18 years referred between 2009 and 2013.
5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy
Investigators from the Children's Hospital of Philadelphia, PA, and McGill University, Montreal, Quebec, CA, report an adolescent learning-disabled girl who presented at age 14 years with an epilepsy syndrome initially diagnosed as juvenile myoclonic epilepsy.
Valproate-Induced Reversible Brain Atrophy and Cognitive Deterioration
Pediatric neurologists at Dalhousie University, Halifax, Nova Scotia, report an 8-year-old boy with rapid cognitive decline after a year-long course of valproate in varying dosages for myoclonic and atypical absence seizures.
Genetic Factors Associated with Phenytoin-Related Skin Reactions
Investigators at the Taipei Medical University Hospital and other centers in Taiwan conducted a case-control study in 2002-2014 among 105 cases with phenytoin-related severe cutaneous adverse reactions (n = 61 Stevens-Johnson syndrome/toxic epidermal necrolysis and n = 44 drug reactions with eosinophilia and systemic symptoms), 78 cases with maculopapular exanthema, 130 phenytoin-tolerant control participants, and 3655 population controls from Taiwan, Japan, and Malaysia.
Treatment of ADHD: Guanfacine Extended Release in ADHD
Investigators at Massachusetts General Hospital, Boston, MA, performed a multicenter, 9-week, double-blind, placebo-controlled, dose-optimization study of guanfacine extended release (GXR, <4 mg/d) adjunctive to a long-acting psychostimulant for ADHD continued in 461 subjects.
Treatment of ADHD: Effect of Methylphenidate on Inattention during Driving
Investigators at Utrecht University, the Netherlands; and centers in Australia and Detroit, MI, evaluated the lapses of attention during on-road highway driving in 18 adult ADHD patients during treatment with methylphenidate (MPH) or placebo.
Biological Markers in Diagnosis of ADHD: EEG Theta/Beta Ratio in Diagnosis of ADHD
Investigators at the Research Institute Brainclinics, Nijmegen, Netherlands, conducted a meta-analysis on the Theta/Beta ratio (TBR) during Eyes Open from location Cz (the electrode halfway between the inion and the nasion) in the EEG of children/adolescents 6-18 years of age with and without ADHD.
Diagnostic Criteria for ADHD: Impact of the DSM-5 Criteria on Prevalence of ADHD
Investigators at the National Institute of Mental Health, Bethesda, MD, compared the prevalence and clinical correlates of DSM-IV-TR versus DSM-5-defined ADHD and subtypes in a nationally representative sample of US youth based on age-of-onset criterion.
Causative Factors for ADHD: Role of Copy Number Variants in ADHD
Investigators from Brazil determined if copy number variants (CNVs) in glutamate metabotropic receptor genes (GRM) were overrepresented in 1038 individuals with ADHD compared to 1057 subjects without ADHD.
Glutamate Metabotropic Receptor Genes, Methylphenidate, Copy Number Variants
Causative Factors for ADHD: Role of Thyroid Stimulating Hormone Receptor in ADHD
Investigators from Meijo and Nagoya Universities, Nagoya, Japan, studied the role for thyroid stimulating hormone receptor (TSHR) in TSHR knockout mice with phenotypes of ADHD such as hyperactivity, impulsiveness, and impairment of short-term memory.
Adverse Effects of Medications for ADHD: Priapism with Medication for ADHD
Investigators at Auburn University, Huntsville, AL, and other centers, reviewed reports in the literature (1966-May 15, 2014) of priapism associated with methylphenidate (MPH), amphetamines, and atomoxetine used in treatment of ADHD.
Investigators at Fujita University School of Medicine, Toyoake, Aichi, Japan, performed a nation-wide survey to determine the incidence and clinical features of rotavirus-associated encephalitis/encephalopathy (RV-AE) and sudden unexpected death (SUD) in Japan.
Investigators at University of Sydney, Australia, and 14 international centers assessed the utility and safety of rituximab in 144 children (median age 8 years, range 0.7-17; 103 female) with autoimmune and inflammatory disorders of the CNS.
Oral Prednisolone vs. IM Corticotropin and Hypsarrhythmia* in West Syndrome
Investigators at University of Columbo, Sri Lanka, studied the efficacy of oral prednisolone (40-60 mg/day) and intramuscular adrenocorticotrophin hormone (40-60 IU synthetic ACTH every other day) for 14 days in improving hypsarrhythmia in children (age 2 mos-2 yrs) with previously untreated West syndrome.
Investigators at the Boston Children's Hospital, MA, and other centers evaluated the role of copy number variants (CNVs) detected using chromosomal microarray (CMA) testing in 805 patients seen between 2006 and 2011 and having ICD-9 codes for epilepsy or seizures.
Chromosomal Microarray, Autistic Spectrum Disorder, Copy Number Variants
Investigators at Universities of Naples and Salerno, Italy; and Maastricht University, the Netherlands, explored the functional response of vestibular neural pathways using whole-brain blood oxygen level dependent (BOLD) fMRI during caloric vestibular stimulation in 12 patients (mean age 31.2 +/- 5 yrs) with vestibular migraine (VM), in 12 healthy controls, and in a group of age- and sex-matched patients with migraine without aura (MwoA).
Blood Oxygen Level Dependent, Migraine Without Aura, Medio-Dorsal
Investigators at Boston Children's Hospital and at University of Florida, Gainesville, studied the comparative efficacy of plasmapheresis (PLEX) vs immunoglobulin (IVIG) as maintenance therapy in juvenile myasthenia gravis (MG).
Investigators at University of New South Wales, Sydney, Australia, and Boston Children's Hospital, Harvard Medical School, conducted a retrospective population-level study of the relationship between epilepsy and 12 common autoimmune diseases: type 1 diabetes mellitus, psoriasis, rheumatoid arthritis, Graves disease, Hashimoto thyroiditis, Crohn disease, ulcerative colitis, systemic lupus erythematosus, antiphospholipid syndrome, Sjogren syndrome, myasthenia gravis, and celiac disease.
Investigators at St Francis Medical Center, Cape Girardeau, MO, and multiple centers in the US, using a database from the Vermont Oxford Network Registry, studied the pattern of use and findings of computed tomography, MRI, and intracranial ultrasound in the evaluation of infants with neonatal encephalopathy.
Antecollis and Parkinsonism in Adults with Dravet Syndrome
Investigators at Toronto Western and The Hospital for Sick Children, Toronto, Canada, prospectively studied the motor abnormalities in a consecutive sample of adults with genetically proven Dravet syndrome (DS).
Neuropsychological and Language Deficits in 22q11.2 Deletion Syndrome
Investigators at Bambino Genu Children's Hospital, Rome, and multiple additional centers in Italy conducted a retrospective and prospective study of clinical manifestations at diagnosis and during follow-up of 228 patients with 22q11.2 deletion syndrome.
Investigators at Erasmus MC, Rotterdam, The Netherlands, evaluated the 2012 revised IPMSSG consensus definitions in a cohort of children with acquired demyelinating syndromes (ADS) prospectively followed for 2 years from Jan 2007.
Investigators at the University of Queensland, Brisbane, Australia, and the University of California, Benioff Children's Hospital, studied the clinical features of syndromes associated with agenesis of the corpus callosum (ACC) and their relation to the genetic causes and developmental processes involved.
Corpus Callosum, Vermis Hypoplasia, Molar Tooth
Neurology, Pediatrics, Brain Diseases, Neurosurgery, Nervous System Diseases, Infant, Child, Child Development
Millichap, John J., Millichap, J. Gordon
DigitalHub. Galter Health Sciences Library, Pediatric Neurology Briefs Publishers
Investigators from University of California, San Diego, and other centers in the US, assayed markers for neurons and glia and genes implicated in the risk of autism, in prefrontal, temporal, and occipital neocortex.
Investigators from University of California, San Francisco; King's College London, UK; and University of Utah, Salt Lake City, studied patients with visual snow to characterize the phenotype and compare it to migraine aura.
Investigators from University of Texas Southwestern Medical Center, Dallas, TX, and other centers in the US and London, UK, studied risk factors for headache and migraine in 872 children, age 5 to 15 years (mean age, 9.1 years), with sickle cell disease (hemoglobinSS or hemoglobinSb-thalassemia) and no history of overt stroke or seizures.
Investigators at the Royal Children's Hospital Melbourne, Australia, studied the presenting features, scope, and prevalence of conditions causing brain attack symptoms in children aged 12 month to 18 years presenting to a tertiary pediatric ED.
Ethosuximide vs Valproate Long-term Remission of Absence Epilepsy
Investigators from the Epilepsy Center, Lurie Children's Hospital of Chicago, and Yale School of Medicine, New Haven, CT, examined the possible association between long-term seizure outcome of childhood absence epilepsy (CAE) and the initial treatment with ethosuximide (ESM) or valproic acid (VPA).
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada, sequenced the pyridoxal 5-phosphate oxidase (PNPO) gene in 31 patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene.
Burst-Suppression Pattern, Pyridoxal 5-Phosphate Oxidase, Cases of Partial Pyridoxine
Investigators at the Division of Emergency Medicine, Children's National Medical Center, Washington, DC, and ten additional US centers in the Pediatric Emergency Care Applied Research Network (PECARN), conducted a double-blind, randomized clinical trial comparing the efficacy and safety of lorazepam and diazepam in the treatment of generalized convulsive status epilepticus (SE) in children aged 3 months to younger than 18 years.
Pediatric Emergency Care Applied Research Network, Status Epilepticus, Endotracheal Intubation
Investigators at University of Texas Southwestern Medical Center, Dallas, TX, report 2 male patients, an infant and adult, with confirmed herpes simplex encephalitis (HSE) and anti-NMDA receptor antibody encephalitis.
Investigators at Cincinnati Children's Hospital, OH, report 2 toddlers, ages 15 and 18 months, with human metapneumovirus (hMPV) infection who presented in status epilepticus and later developed respiratory failure.
Human Metapneumovirus, Febrile Seizure, Fatal Encephalitis
Investigators at the National Institute of Mental Health and Neurosciences, Bangalore, India, conducted a retrospective analysis of semiologic patterns of psychogenic non-epileptic seizures (PNES) diagnosed by video EEG in 56 children aged < 18 years (mean age 12.3 yrs; range 2-17 yrs).
Investigators from Istanbul, Turkey, studied R43Q mutations of the gamma-aminobutyric acid A receptor (GABRG2) gene, located on the long arm of chromosome 5, in 44 children with febrile seizure (FS) and 49 without.
Investigators at University Medical Center Utrecht, Netherlands, studied the yield of long-term (up to 20 years) screening for intracranial aneurysms in individuals with a positive family history (2 or more first-degree relatives) of aneurysmal subarachnoid hemorrhage (aSAH) or unruptured intracranial aneurysm (1993-2013).
Investigators from Carl von Ossietzky University, Oldenburg, and other centers in Germany, compared cognitive performance in a group of 15 patients with childhood craniopharyngioma and hypothalamic involvement and a group of 24 age- and intelligence-matched control subjects.
Researchers at Hammersmith Hospital, London, and Academy of Nutritional Medicine, Cambridge, UK, conducted an updated meta-analysis of randomized controlled trials (RCTs) in ADHD, using data on PUFA content obtained from independent fatty acid methyl ester analyses of each study PUFA regimen.
Genotype-Phenotype Correlations in Alternating Hemiplegia
Researchers at the National Center of Neurology and Psychiatry, Kodaira, and multiple centers in Japan, analyze the clinical features and ATP1A3 mutations in 35 Japanese children diagnosed with alternating hemiplegia of childhood (AHC).
Potassium Channel KIR4.1-Specific Antibodies and Acquired Demyelinating Disease
Researchers at Technische Universitat, Munich, and other centers in Germany, studied the prevalence of KIR4.1-IgG by ELISA in 47 children with acquired demyelinating disease (ADD), in 22 with other neurologic diseases, 22 with autoimmune disease, and in 18 healthy controls.
Myelin Oligodendrocyte Glycoprotein, EAST Syndrome, Acquired Demyelinating Disease
Researchers in Chang Gung University, Kaohsiung, and National Cheng Kung University, Tainan, Taiwan, assessed the prevalence and spectrum of paraneoplastic neurological disorders (PND) in children with benign ovarian tumor and the long-term outcome.
Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome
Investigators from National University Hospital, Singapore, review the clinical features of 13 cases of pharyngeal-cervical-brachial (PCB) variant of Guillain-Barre syndrome (GBS) and outline new diagnostic criteria.
Investigators at Danish Headache Centre, University of Copenhagen, Glostrup, Denmark, studied the incidence of migraine during and after intravenous infusion of pituitary adenylate cyclase-activating polypeptide-38 (PACAP38) and vasoactive intestinal polypeptide (VIP) in 22 female migraine patients without aura (mean age 24 years [range 19-36]).
Investigators from the Oncology Unit, Royal Children's Hospital, Melbourne, Australia, compared the frequency of headache and procedure time following lumbar puncture (LP) in a randomized crossover trial using a 25-gauge compared to a 22-gauge needle.
Symptoms, Signs, and EEG Changes During Reflex Syncope
Investigators at Leiden University Medical Centre, The Netherlands, studied the symptoms, video data of signs, and EEG changes during tilt-induced vasovagal syncope in 69 subjects, age range 12-84 years (mean 46 years).
Investigators from Albert Einstein College of Medicine, Bronx, NY, recorded the gait characteristics and prevalence of toe walking, the range of passive joint mobility, and age at walking in children with DSM IV autism spectrum disorders (ASDs) and in age- and gender-matched healthy peers (mean age 4 years 6 months, range 22 months 10 years 9 months).
Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18 patients from 13 families with mutations in SLC5ZA2, encoding riboflavin transporter RTVT2, a new causative gene for Brown-Vialetto-Van Laere syndrome (BVVLS), a progressive neurodegenerative disorder leading to death in childhood.
Investigators at Brown University, Providence, RI, and other imaging genetic centers in the US, compare MRI measurements of white matter myelin water fraction (MWF) and gray matter volume (GMV) in healthy infant carriers and noncarriers of the apolipoprotein E (APOE) e4 allele, the major susceptibility gene for late-onset Alzheimer disease (AD).
Alzheimer Disease, Myelin Water Fraction, Gray Matter Volume
Folinic Acid Responsive Epilepsy in Ohtahara Syndrome
Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.
Folinic Acid, Hong Kong Patients Seizures, STXBP1 Mutations
Investigators at Montreal Neurological Institute and Hospital, Canada, studied intracranial electroencephalographic seizure-onset patterns associated with different epileptogenic lesions, and defined high-frequency oscillation correlates of each pattern.
Investigators at University of South Florida, Tampa, FL, review the literature on the differences between tobacco smoke and nicotine, and their roles in causing or protecting against seizures in animal studies and in humans with epilepsy.
Investigators from University of Bristol, and other centers in the UK and Canada conducted a prospective study of sleep duration of children with an autism spectrum disorder (ASD) diagnosis at age 11 years (n = 73).