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Brain Dev 2019 Apr 15. Epub 2019 Apr 15.

Division of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, Nagoya, Japan.

Hypophosphatasia (HPP) is a rare disorder caused by low serum tissue non-specific alkaline phosphatase (ALP) activity due to hypomorphic mutations in the ALPL gene. HPP is characterized by defective bone mineralization. It frequently accompanies pyridoxine-responsive seizures. Read More

Pediatr Infect Dis J 2019 May;38(5):476-480

Maternal-Infant Care (MiCare) Research Centre, Mount Sinai Hospital.

Background: Meningitis is a serious disease that occurs more commonly in the neonatal period than in any other age group. Recent data from large national cohorts are needed to determine if the epidemiology of neonatal meningitis (NM) has changed.

Aim: To assess the rates, causative organisms, risk factors, temporal trends and short-term outcomes of NM in Canadian Neonatal Intensive Care Units (NICUs). Read More

Front Pediatr 2019 29;7:111. Epub 2019 Mar 29.

Division of Neonatology, Department of Pediatrics, University of Kentucky, Lexington, KY, United States.

Neonatal abstinence syndrome (NAS) refers to a constellation of signs occurring in newborn infants who were exposed to opioids or opiates . These manifestations include poor feeding, gastrointestinal disorders, abnormal sleep patterns, and neurological signs such as jitteriness, tremors, and seizures (1, 2). Myoclonus, jitteriness, and tremors often may be interpreted as seizures and therefore treated as epileptic seizures. Read More

J Pediatr 2019 Apr 11. Epub 2019 Apr 11.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Program in Neurosciences and Mental Health, SickKids Research Institute, Toronto, Ontario, Canada.

Objectives: To investigate how glucose abnormalities correlate with brain function on amplitude-integrated electroencephalography (aEEG) in infants with neonatal encephalopathy.

Study Design: Neonates born at full term with encephalopathy were enrolled within 6 hours of birth in a prospective cohort study at a pediatric academic referral hospital. Continuous interstitial glucose monitors and aEEG were placed soon after birth and continued for 3 days. Read More

An Pediatr (Barc) 2019 Apr 10. Epub 2019 Apr 10.

Servicio de Neonataologia B, Maternidade Bissaya Barreto, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Introduction: The purpose of this study was to assess the neonatal morbidity and mortality associated with vacuum-assisted vaginal deliveries compared to all other vaginal deliveries, and to identify the associated risk factors.

Material And Methods: We conducted a retrospective case-control study in a level iii maternity hospital between 2012 and 2016, including 1,802 vacuum-assisted vaginal deliveries and 2control groups: 1802 spontaneous deliveries and 909 forceps-assisted deliveries. We considered minor complications (soft tissue trauma, cephalohaematoma, jaundice, intensive phototherapy, transient brachial plexus injury) and major complications (hypoxic-ischaemic encephalopathy, intracranial and subgaleal haemorrhage, seizures, cranial fracture, permanent brachial plexus injury), admission to the neonatal intensive care unit and death. Read More

Gene 2019 Apr 9;704:97-102. Epub 2019 Apr 9.

Sandor Speciality Diagnostics Pvt Ltd, Banjara Hills, Road No.3, Hyderabad, India.

In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p. Read More

Genet Med 2019 Apr 12. Epub 2019 Apr 12.

Danish Epilepsy Centre, Dianalund, Denmark.

Purpose: To provide a detailed electroclinical description and expand the phenotype of PIGT-CDG, to perform genotype-phenotype correlation, and to investigate the onset and severity of the epilepsy associated with the different genetic subtypes of this rare disorder. Furthermore, to use computer-assisted facial gestalt analysis in PIGT-CDG and to the compare findings with other glycosylphosphatidylinositol (GPI) anchor deficiencies.

Methods: We evaluated 13 children from eight unrelated families with homozygous or compound heterozygous pathogenic variants in PIGT. Read More

Cell Death Dis 2019 Apr 11;10(4):325. Epub 2019 Apr 11.

Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.

Neonatal hypoxic injury (NHI) is a devastating cause of disease that affects >60% of babies born with a very low birth weight, resulting in significant morbidity and mortality, including life-long neurological consequences such as seizures, cerebral palsy, and intellectual disability. Hypoxic injury results in increased neuronal death, which disrupts normal brain development. Although animal model systems have been useful to study the effects of NHI, they do not fully represent the uniqueness and complexities of the human brain. Read More

J Child Neurol 2019 Apr 9:883073819838171. Epub 2019 Apr 9.

2 Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Background: Many neonates with hypoxic ischemic encephalopathy and seizures do not respond to the first line antiepileptic drug, phenobarbital. Little is known about what factors are associated with its failure.

Objective: To examine factors associated with failure of phenobarbital therapy in neonates with hypoxic ischemic encephalopathy and seizures. Read More

Dev Period Med 2019 ;23(1):15-20

NICU of Lviv City Children's Hospital.

Objective: Introduction: Epileptic spasms are seizures usually associated with a severe developmental epilepsy syndrome with onset in the first year of life, peaking between 3 and 10 months of age [12]. A variety of disorders can cause epileptic spasms, with the etiology driving management, prognosis, and overall outcome. Preexisting brain damage has been demonstrated in 60% to 90% of the cases reflecting pre-, peri-, or postnatal brain injury that may usually be determined by history and clinical neurologic examination. Read More

Brain Dev 2019 Apr 3. Epub 2019 Apr 3.

Pediatric Neurology and Epileptology Unit, Brotzu Hospital Trust, Cagliari, Italy.

Background: A targeted treatment approach is increasingly promoted in epilepsy management.

Aim: To investigate if etiology (both established or initially presumed) influences antiepileptic drug choice of experts in neonatal seizures.

Methods: An invitation to participate to a web-based questionnaire was sent to Italian pediatric neurologists affiliated to the Italian Society of Pediatric Neurology (SINP). Read More

Dev Neurosci 2019 Apr 4:1-20. Epub 2019 Apr 4.

Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA,

Seizures in neonates represent a neurologic emergency requiring prompt recognition, determination of etiology, and treatment. Yet, the definition and identification of neonatal seizures remain challenging and controversial, in part due to the unique physiology of brain development at this life stage. These issues are compounded when considering seizures in premature infants, in whom the complexities of brain development may engender different clinical and electrographic seizure features at different points in neuronal maturation. Read More

J Pediatr Neurosci 2018 Oct-Dec;13(4):520-521

Department of Paediatrics, General Paediatrics Operative Unit, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Catania, Italy.

Acta Paediatr 2019 Apr 1. Epub 2019 Apr 1.

Department of Paediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark.

Aim: We aimed at describing clinical findings in children with dyskinetic as compared to bilateral spastic cerebral palsy (CP).

Methods: Data was extracted from the Danish nationwide CP register. Participants were born in 1999-2007 and were 5-6 years at ascertainment. Read More

Clin Neurol Neurosurg 2019 May 16;180:52-56. Epub 2019 Mar 16.

Division of Pediatric Neurosurgery, Joe DiMaggio Children's Hospital, 1150 N 35th Ave., Hollywood, FL, 33021, USA. Electronic address:

Objectives: Intraventricular hemorrhage (IVH) remains a major complication of prematurity, affecting 20-25% of premature infants of very low birth weight. Preterm infants with IVH are at risk for developing significant complications, including posthemorrhagic hydrocephalus and seizures. Multiple studies have reported an association between the neutrophil-to-lymphocyte ratio (NLR) in peripheral blood and outcomes after acute intracranial hemorrhage in adults. Read More

Heliyon 2019 Mar 12;5(3):e01331. Epub 2019 Mar 12.

Department of Pharmacology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Epilepsy is a common neurological disorder which occurs as a result of a spontaneous electrical discharge in the brain. According to recent studies there might be a relationship between specific diet and seizure occurrence. Casein is an important protein of milk which often causes hypersensitivity. Read More

J Inherit Metab Dis 2019 Mar 25. Epub 2019 Mar 25.

Service of Clinical Chemistry, Lausanne University Hospital and University of Lausanne, Switzerland.

The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker argininosuccinic acid (ASA) elevated in body fluids. Remarkably, even without ever suffering from hyperammonemia, patients often develop severe cognitive impairment and seizures. The goal of this study was to understand the effect on the known toxic metabolite ASA and the assumed toxic metabolite guanidinosuccinic acid (GSA) on developing brain cells, and to evaluate the potential role of creatine (Cr) supplementation, as it was described protective for brain cells exposed to ammonia. Read More

Clin Neurophysiol 2019 May 15;130(5):759-766. Epub 2019 Mar 15.

Department of Clinical Neurophysiology, Children's Hospital, HUS Medical Imaging Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.

Objective: The unspecific symptoms of neonatal stroke still challenge its bedside diagnosis. We studied the accuracy of routine electroencephalography (EEG) and simultaneously recorded somatosensory evoked potentials (EEG-SEP) for diagnosis and outcome prediction of neonatal stroke.

Methods: We evaluated EEG and EEG-SEPs from a hospital cohort of 174 near-term neonates with suspected seizures or encephalopathy, 32 of whom were diagnosed with acute ischemic or hemorrhagic stroke in MRI. Read More

Mol Genet Genomic Med 2019 Mar 21:e657. Epub 2019 Mar 21.

Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.

Background: Molybdenum cofactor deficiency (MoCD) is a rare autosomal-recessive disorder that results in the combined deficiency of molybdenum-dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the neonatal period with severe encephalopathy, including intractable seizures, MRI changes that resemble hypoxic-ischemic injury, microcephaly, and early death. Read More

J Child Neurol 2019 Mar 22:883073819828625. Epub 2019 Mar 22.

1 Department of Neonatology, Princess Margaret and King Edward Hospitals, Perth, Australia.

Context:: Therapeutic hypothermia is the recommended treatment for neonates with moderate or severe hypoxic ischemic encephalopathy (HIE). There is an increasing trend to use therapeutic hypothermia even in infants with mild hypoxic ischemic encephalopathy, even though there is little evidence to support/refute this.

Objective:: To estimate the incidences of mild hypoxic ischemic encephalopathy among infants who received therapeutic hypothermia, and its short- and long-term outcomes. Read More

J Inherit Metab Dis 2019 Mar 19. Epub 2019 Mar 19.

Neurology Department, Hôpital Raymond Poincaré, Paris, France.

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of nonspherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, we recorded all known French patients with PGK deficiency, and 3 unrelated patients were identified. Read More

BMC Pediatr 2019 Mar 18;19(1):79. Epub 2019 Mar 18.

Department of Neonatology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, 325027, Wenzhou, China.

Background: Maternofetal carnitine transport through the placenta is the main route of fetal carnitine uptake. Decreased free carnitine levels discovered by newborn screening has identified many asymptomatic adult women with systemic primary carnitine deficiency (PCD). Here, we presented amplitude integrated electroencephalogram (aEEG) and magnetic resonance imaging (MRI) findings from a neonate with epilepsy whose mother was carnitine deficient. Read More

J Clin Neurophysiol 2019 Mar 12. Epub 2019 Mar 12.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, U.S.A.

Purpose: Conventional video-EEG monitoring is required to diagnose seizures accurately in neonates. This tool is resource-intense and has limited availability in many centers. Seizure prediction models could help allocate resources by improving efficiency in which conventional video-EEG monitoring is used to detect subclinical seizures. Read More

Anesth Analg 2019 Mar 11. Epub 2019 Mar 11.

Department of Anesthesiology, Tufts Medical Center, Boston, Massachusetts.

Background: Fever and increased maternal interleukin-6 (IL-6) plasma levels in labor are associated with an increased risk of adverse events in offspring, including neonatal seizures, cerebral palsy, and low intelligence scores at school age. However, the neural changes in the neonate that might mediate the adverse effects of maternal noninfectious fever are not fully characterized. This study was designed to test the hypothesis that induced maternal noninfectious fever alters neonatal neural progenitor cell proliferation and enhances microglial activation in the rat dentate gyrus of the hippocampus. Read More

Eur J Paediatr Neurol 2019 Feb 27. Epub 2019 Feb 27.

CHU Saint-Étienne, French Centre for Paediatric Stroke, Paediatric Physical and Rehabilitation Medicine Department, INSERM, CIC 1408, F-42055, Saint-Étienne, France; INSERM, U1059 Sainbiose, Univ Saint-Étienne, Univ Lyon, F-42023, Saint-Étienne, France. Electronic address:

With a birth-prevalence of 37-67/100,000 (mostly term-born), perinatal stroke encompasses distinct disease-states with diverse causality, mechanism, time of onset, mode of presentation and outcome. Neonatal primary haemorrhagic stroke and ischemic events (also divided into neonatal arterial ischemic stroke and neonatal cerebral sinus venous thrombosis) that manifest soon after birth are distinguished from presumed perinatal - ischemic or haemorrhagic - stroke. Signs of the latter become apparent only beyond the neonatal period, most often with motor asymmetry or milestones delay, and occasionally with seizures. Read More

Epilepsia Open 2019 Mar 25;4(1):10-29. Epub 2019 Jan 25.

Clinical Neuroscience UCL-Institute of Child Health London UK.

The aim of this study was to evaluate whether specific etiologies of neonatal seizures have distinct ictal electroclinical features. A systematic review of English articles using the PubMed database since 2004 (last update 9/26/16). Search terms included text words and Medical Subject Headings (MeSH) terms related to neonatal seizures. Read More

Neurol India 2019 Jan-Feb;67(1):169-172

Department of Neurosurgery, Krishna Institute of Medical Sciences, Secunderabad, Telangana, India.

The role of cerebellum in seizure generation is debatable. Semiology and electroencephalography (EEG) findings are non-specific and sometimes misleading, posing further difficulty in proving the epileptogenicity in pre-surgical workup. We report two cases of cerebellar lesions who presented with hemifacial seizures since the neonatal period and were refractory to antiepileptic drugs (AEDs). Read More

Dev Med Child Neurol 2019 Mar 10. Epub 2019 Mar 10.

Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Aim: To describe the baseline developmental profile and influence of clinical and demographic factors on the developmental skills of infants diagnosed with infantile spasms.

Method: Ninety-five infants (55 males, 40 females) newly diagnosed with infantile spasms were recruited for a cross-sectional, longitudinal study. All infants underwent Bayley Scales of Infant and Toddler Development assessments in the cognitive, receptive communication, expressive communication, and fine and gross motor developmental domains; they also underwent visual, auditory, and social behaviour assessments. Read More

Cold Spring Harb Mol Case Stud 2019 Mar 8. Epub 2019 Mar 8.

Baylor College of Medicine

DNM1L encodes a GTPase of the dynamin superfamily which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1, MIM #614388). Patients show variable phenotypes ranging from severe hypotonia leading to death in the neonatal period to developmental delay/regression, with or without seizures. Read More

JACC Basic Transl Sci 2019 Feb 25;4(1):116-121. Epub 2019 Feb 25.

Centre for the Studies of Asphyxia and Resuscitation, Royal Alexandra Hospital, Edmonton, Alberta, Canada; and the Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

Newborn infants receiving chest compressions in the delivery room have a high incidence of mortality (41%) and short-term neurological morbidity (e.g., 57% hypoxic-ischemic encephalopathy and seizures). Read More

Sci Data 2019 03 5;6:190039. Epub 2019 Mar 5.

BABA Center, Children's Hospital, HUS Medical Imaging Center, Department of Clinical Neurophysiology, Helsinki University Hospital, Helsinki, Finland.

Neonatal seizures are a common emergency in the neonatal intensive care unit (NICU). There are many questions yet to be answered regarding the temporal/spatial characteristics of seizures from different pathologies, response to medication, effects on neurodevelopment and optimal detection. The dataset presented in this descriptor contains EEG recordings from human neonates, the visual interpretation of the EEG by the human experts, supporting clinical data and codes to assist access. Read More

Dev Neurosci 2019 Feb 28:1-10. Epub 2019 Feb 28.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Hypoxic-ischemic encephalopathy is a common neonatal brain injury associated with significant morbidity and mortality despite the administration of therapeutic hypothermia (TH). Neonatal seizures and subsequent chronic epilepsy are frequent in this patient population and current treatments are partially effective. We used a neonatal murine hypoxia-ischemia (HI) model to test whether the severity of hippocampal and cortical injury predicts seizure susceptibility 8 days after HI and whether TH mitigates this susceptibility. Read More

BMC Pediatr 2019 Feb 27;19(1):67. Epub 2019 Feb 27.

Children's National Health Systems, Washington, DC, USA.

Background: While intercenter variation (ICV) in anti-epileptic drug (AED) use in neonates with seizures has been previously reported, variation in AED practices across regional NICUs has not been specifically and systematically evaluated. This is important as these centers typically have multidisciplinary neonatal neurocritical care teams and protocolized approaches to treating conditions such as hypoxic ischemic encephalopathy (HIE), a population at high risk for neonatal seizures. To identify opportunities for quality improvement (QI), we evaluated ICV in AED utilization for neonates with HIE treated with therapeutic hypothermia (TH) across regional NICUs in the US. Read More

Mol Med 2019 02 27;25(1). Epub 2019 Feb 27.

Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.

Background: Deleterious variants in the voltage-gated sodium channel type 2 (Na1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. Read More

Medicine (Baltimore) 2019 Feb;98(8):e14698

Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.

Rationale: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. Read More

Arq Neuropsiquiatr 2019 Feb;77(2):122-130

Hospital de Niños Ricardo Gutiérrez, División de Neurología, Ciudad Autónoma de Buenos Aires, Argentina.

Seizures in the newborn are associated with high morbidity and mortality, making their detection and treatment critical. Seizure activity in neonates is often clinically obscured, such that detection of seizures is particularly challenging. Amplitude-integrated EEG is a technique for simplified EEG monitoring that has found an increasing clinical application in neonatal intensive care. Read More

MedEdPORTAL 2018 Sep 21;14:10753. Epub 2018 Sep 21.

Pediatric Emergency Medicine Fellow, Department of Emergency Medicine, State University of New York Upstate Medical University.

Introduction: Treatment of seizures in the neonatal patient is urgent and time sensitive. Effective and timely treatment of this life-threatening condition is vital in preventing mortality and long-term morbidity. This simulation-based curriculum involves the identification and management of a seizure in a 4-day-old neonate with pyridoxine-dependent epilepsy. Read More

Sudan J Paediatr 2018 ;18(2):42-47

Department of Clinical Biochemistry, Klatovy Hospital, Klatovy, Czech Republic.

Neonatal hypocalcemia is defined as serum calcium (S-Ca) < 2.0 mmol/l in full-term newborns and <1.75 mmol/l in preterm newborns. Read More

Epilepsia 2019 Mar 20;60(3):e20-e24. Epub 2019 Feb 20.

Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

In a prospective cohort of 534 neonates with acute symptomatic seizures, 66% had incomplete response to the initial loading dose of antiseizure medication (ASM). Treatment response did not differ by gestational age, sex, medication, or dose. The risk of incomplete response was highest for seizures due to intracranial hemorrhage and lowest for hypoxic-ischemic encephalopathy, although the difference was not significant after adjusting for high seizure burden and therapeutic hypothermia treatment. Read More

Epileptic Disord 2019 Feb;21(1):122-127

Department of Neurosurgery, Section for Pediatric Neurosurgery, University of Ulm, Germany.

Focal cortical dysplasia is a common cause of medically refractory epilepsy in infancy and childhood. We report a neonate with seizures occurring within the first day of life. Continuous video-EEG monitoring led to detection of left motor seizures and a right frontal EEG seizure pattern. Read More

Epileptic Disord 2019 Feb;21(1):87-91

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Read More

Curr Treat Options Neurol 2019 Feb 18;21(2). Epub 2019 Feb 18.

Division of Neurology, Department of Pediatrics, Nationwide Children's Hospital, Ohio State University, 611 E Livingston Avenue FB4, Columbus, OH, 43205, USA.

Purpose Of Review: The purpose of this review is to report recent advances in treatment of neonatal seizures, with a specific focus on new literature since a 2013 systematic review performed by this author (Slaughter) and others. There is a paucity of data with regard to well-defined status epilepticus (SE) in neonates, so treatment of recurrent seizures was also included in this inquiry. We aimed to summarize the efficacy and safety profiles of current therapeutic options as well as describe trends in medication selection in the neonatal intensive care unit (NICU) setting. Read More

Epilepsy Behav 2019 Mar 13;92:332-340. Epub 2019 Feb 13.

Department of Anatomy, Cell biology and Physiological Sciences, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Child Neurology, Department of Pediatric and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

Hypoxic encephalopathy of the newborn is a major cause of long-term neurological sequelae. We have previously shown that CEP-701 (lestaurtinib), a drug with an established safety profile in children, attenuates short-term hyperexcitability and tropomyosin-related kinase B (TrkB) receptor activation in a well-established rat model of early life hypoxic seizures (HS). Here, we investigated the potential long-term neuroprotective effects of a post-HS transient CEP-701 treatment. Read More

Dev Med Child Neurol 2019 Feb 14. Epub 2019 Feb 14.

Child Neuropsychiatry Unit, Neuroscience Division, Medicine and Surgery Department, University of Parma, Parma, Italy.

J Child Neurol 2019 May 14;34(6):313-320. Epub 2019 Feb 14.

1 Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Background/objective: Seizure monitoring via amplitude-integrated EEG is standard of care in many neonatal intensive care units; however, conventional EEG is the gold standard for seizure detection. We compared the diagnostic yield of amplitude-integrated EEG interpreted at the bedside, amplitude-integrated EEG interpreted by an expert, and conventional EEG.

Methods: Neonates requiring seizure monitoring received amplitude-integrated EEG and conventional EEG in parallel. Read More

Rev Environ Health 2019 Feb 12. Epub 2019 Feb 12.

Institute of Child Health - Inborn Errors of Metabolism, Hivon and Papadiamantopoulou, Athens, Attica, Greece.

Parents had already taken information about galactosemia from web medical pages because they were asked for a second blood sample from their infant suspected for the disease. All enzyme types of this disorder are diagnosed by neonatal screening perinatally and treated with a galactose (GAL) free diet. The most frequent information about the disease was mental retardation (100%), eye cataracts (100%) liver dysfunction (90. Read More

Pediatr Emerg Care 2019 Mar;35(3):199-203

Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS.

Objective: The objective of this study was to evaluate the effect of the Pediatric Emergency Care Applied Research Network (PECARN) blunt head trauma guidelines and implementation of urgent neurology follow-up (UNF) appointments on an observed decline in head computed tomography (CT) use for pediatric emergency department (PED) patients presenting with headache, seizure, and trauma.

Methods: Patients ages 0 to 18 years presenting to and discharged from an urban tertiary care PED with chief complaint of trauma, headache, and seizure between 2007 and 2013 were retrospectively included. The total number of head CTs obtained in the trauma, headache, and seizure groups was compared before and after the publication of the PECARN guidelines in 2009 and the implementation of urgent UNF within a week from PED discharge in 2011, respectively. Read More

Mov Disord Clin Pract 2019 Jan 9;6(1):34-39. Epub 2018 Nov 9.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology Baylor College of Medicine Houston Texas USA.

Background: Since its localization to the gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea.

Methods: The phenomenology of movement disorders and other symptomatology associated with mutations in were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.

Results: We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in All patients exhibited chorea, gross motor delay, and gait impairment. Read More