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Pharmaceutics 2018 Dec 16;10(4). Epub 2018 Dec 16.

Department of Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Flupirtine, a nonopioid analgesic drug, is effective in treating neonatal seizures. However, its brain delivery and pharmacokinetics are unknown in neonatal mammals. The purpose of this study was to determine the pharmacokinetics of flupirtine and the formation of its active metabolite D-13223 in various tissues such as brain in neonate animals. Read More

Tohoku J Exp Med 2018 ;246(4):245-249

Department of Pediatrics, Al-Elwiyah Pediatric Teaching Hospital, Al-Rusafa Health Directorate, Ministry of Health.

During a daily neonatology practice, seizures are a continuous challenge as a common neurological disease with a wide range of underlying etiologies, and considerable risks of morbidity and mortality. This study aimed to clarify the rate, etiological factors and outcomes of neonatal seizures, and a possible foresight of neonatal death in Iraq. A prospective cohort study was conducted in neonates with seizures admitted to 3 major neonatology centers in Baghdad, Iraq, from 1 of December 2017 till the end of May 2018. Read More

Tohoku J Exp Med 2018 ;246(4):243

Executive Editor, Tohoku Journal of Experimental Medicine.

Epilepsia Open 2018 Dec 1;3(4):495-502. Epub 2018 Nov 1.

Department of Pediatrics Showa University School of Medicine Shinagawa-ku, Tokyo Japan.

Objective: Vitamin B-dependent epilepsies are treatable disorders caused by variants in several genes, such as ,, and others. Recently, biallelic variants in formerly known as , were identified as a novel cause of vitamin B-dependent epilepsies. Our objective was to further delineate the phenotype of mutation. Read More

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

Department of Pediatrics (Neurology), McMaster University, 1280 Main St., W. Hamilton, Ontario L8S 4K1, Canada.

A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. Read More

PLoS One 2018 3;13(12):e0207952. Epub 2018 Dec 3.

FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin, Ireland.

MicroRNAs are a class of small non-coding RNA that regulate gene expression at a post-transcriptional level. MicroRNAs have been identified in various body fluids under normal conditions and their stability as well as their dysregulation in disease has led to ongoing interest in their diagnostic and prognostic potential. Circulating microRNAs may be valuable predictors of early-life complications such as birth asphyxia or neonatal seizures but there are relatively few data on microRNA content in plasma from healthy babies. Read More

Neurotox Res 2018 Dec 5. Epub 2018 Dec 5.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, ICBS, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, Porto Alegre, RS, 90035-003, Brazil.

Sulfite oxidase (SO) deficiency is an autosomal recessive inherited neurometabolic disease caused by deficient activity of SO. It is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Severe neurological symptoms, including neonatal seizures, encephalopathy, and psychomotor retardation, are commonly observed in the affected patients, but the pathogenesis of the neurologic dysfunction is still poorly understood. Read More

Medicine (Baltimore) 2018 Nov;97(48):e13447

Zhejiang Key Laboratory of Pathophysiology, Department of Pathology and Pathogen Biology, Medical School of Ningbo University.

Rationale: Enterovirus 71 (EV71) is identified as the primary cause of hand, foot, and mouth disease (HFMD) and mainly infects the young infants. Though some fatal cases have been reported, the underlying mechanisms of EV71 infection remain elusive and more further pathologic and molecular studies of EV71 infection are needed.

Patient Concerns: A 26-month-old girl with a history of fever and lethargy for 3 days and intermittent seizures for 2 hours associated with rash on 4 limbs was brought to a hospital. Read More

Arch Dis Child Fetal Neonatal Ed 2018 Nov 24. Epub 2018 Nov 24.

Irish Centre for Fetal and Neonatal Translational Research (INFANT), Cork, Ireland.

Objective: The aim of this multicentre study was to describe detailed characteristics of electrographic seizures in a cohort of neonates monitored with multichannel continuous electroencephalography (cEEG) in 6 European centres.

Methods: Neonates of at least 36 weeks of gestation who required cEEG monitoring for clinical concerns were eligible, and were enrolled prospectively over 2 years from June 2013. Additional retrospective data were available from two centres for January 2011 to February 2014. Read More

Seizure 2018 Dec 13;63:93-101. Epub 2018 Nov 13.

Neglected Tropical Diseases Unit, Ministry of Health, Juba, South Sudan. Electronic address:

Purpose: To determine the prevalence and incidence of epilepsy in an onchocerciasis endemic region of South Sudan.

Methods: In May 2018, a door-to-door household survey was conducted in 8 study sites in an onchocerciasis endemic area in Maridi County.

Results: A total of 2511 households agreed to participate in the study, corresponding to 17,652 individuals. Read More

Neuropediatrics 2018 Nov 19. Epub 2018 Nov 19.

Service de Neurologie Pédiatrique, Hôpital des Enfants, Toulouse Cedex, France.

Introduction:  Valproic acid (VPA) is rarely used in neonatal period. In children under 2 years old, serious adverse effects are appear to be more frequent.

Aim:  The aim of our study is to report the adverse effects observed in a population of full-term newborns treated with VPA. Read More

Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:4881-4884

This paper proposes and implements an intuitive and pervasive solution for neonatal EEG monitoring assisted by sonification and deep learning AI that provides information about neonatal brain health to all neonatal healthcare professionals, particularly those without EEG interpretation expertise. The system aims to increase the demographic of clinicians capable of diagnosing abnormalities in neonatal EEG. The proposed system uses a low-cost and low-power EEG acquisition system. Read More

Arch Dis Child Fetal Neonatal Ed 2018 Nov 13. Epub 2018 Nov 13.

Centre for Perinatal Neuroscience, Imperial College London, London, UK.

Objective: To examine the effect of therapeutic hypothermia on MR biomarkers and neurodevelopmental outcomes in babies with mild hypoxic-ischaemic encephalopathy (HIE).

Design: Non-randomised cohort study.

Setting: Eight tertiary neonatal units in the UK and the USA. Read More

Brain Dev 2018 Nov 8. Epub 2018 Nov 8.

Department of Nutrition and Dietetics, Bilgi University School of Medicine, Turkey.

SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS). Treatment modalities for epilepsy caused by SCN2A mutations mainly consist of sodium channel blockers but ketogenic diet (KD) is also considered as an option of treatment for intractible seizures caused by SCN2A mutations. Because of the wide nature of the heterogeneity of mutations related to SCN2A gene, the clinical phenotypes vary in severity and treatment response to KD has been reported to be controversial. Read More

Pediatr Neurol 2018 Sep 21. Epub 2018 Sep 21.

Surgical Outcomes Center for Kids, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.

Introduction: Epilepsy is a serious and often lifelong consequence of perinatal arterial ischemic stroke (PAIS). Variable incidences and risk factors for long-term epilepsy in PAIS have been reported. To determine the incidence of epilepsy in PAIS survivors and report factors associated with the risk of developing epilepsy, a meta-analysis and systematic review of prior publications was performed. Read More

Am J Perinatol 2018 Nov 5. Epub 2018 Nov 5.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Center for Women's Reproductive Health, University of Alabama at Birmingham, Birmingham, Alabama.

Objective:  Compare outcomes in women with chronic hypertension who remain normotensive, experience exacerbation, or meet laboratory criteria for superimposed preeclampsia.

Study Design:  This is a retrospective cohort study of singleton pregnancies with chronic hypertension from 2000 to 2014. Delivery admission records were used to categorize women into three groups: stable chronic hypertension, exacerbated hypertension, and superimposed preeclampsia. Read More

Zhonghua Er Ke Za Zhi 2018 Nov;56(11):846-849

Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.

To investigate the clinical features, laboratory characteristics and genetic diagnosis of Kabuki syndrome (KS). Between September 2014 and September 2016, seven children with clinically diagnosed KS from the neurology department, Beijing Children Hospital, Capital Medical University were included in this study. Three of them were male and 4 were female aged from 19 days to 6 years and 4 months with a median age of 3 years and 1 month. Read More

Clin Neurophysiol 2018 Dec 25;129(12):2534-2540. Epub 2018 Oct 25.

Department of Chemistry, Life Sciences and Environmental Sustainability, Stress Physiology Lab, University of Parma, Italy. Electronic address:

Objective: Seizures are frequently observed in neurological conditions affecting newborns. Since autonomic alterations are commonly associated with neonatal seizures (NS), we investigated the utility of heart rate variability (HRV) indexes of cardiac autonomic regulation for NS detection.

Methods: HRV analysis was conducted on ECG tracings recorded during video-EEG monitoring in newborns with NS and matched-controls. Read More

J Clin Neurophysiol 2018 Oct 31. Epub 2018 Oct 31.

Department of Pediatrics (Neurology), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, U.S.A.

Purpose: Many neonates undergo electroencephalogram (EEG) monitoring to identify and manage acute symptomatic seizures. Information about brain function contained in the EEG background data may also help predict neurobehavioral outcomes. For EEG background features to be useful as prognostic indicators, the interpretation of these features must be standardized across electroencephalographers. Read More

Ital J Pediatr 2018 Nov 1;44(1):115. Epub 2018 Nov 1.

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

Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements.Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Read More

Pediatrics 2018 Nov;142(5)

Service de Psychiatrie de l'Enfant et de l'Adolescent, Centre de Compétence Maladies Rares à Expression Psychiatriques et Schizophrénie à Début Précoce, Hôpital Fontan and

Catatonia is a rare, underdiagnosed syndrome in children. We report the case of a 4-year-old child admitted for recent social withdrawal alternating with psychomotor excitement, verbigeration, and a loss of toilet readiness. He had a history of neonatal seizures, had been stabilized with vigabatrin, and was seizure free without treatment for several months. Read More

BMJ 2018 Oct 31;363:k4372. Epub 2018 Oct 31.

Department of Urology, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305-5118, USA

Objective: To evaluate the impact of advanced paternal age on maternal and perinatal outcomes in the United States.

Design: Retrospective, population based cohort study.

Setting: US. Read More

Am J Med Genet A 2018 Oct;176(10):2167-2171

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11. Read More

J Matern Fetal Neonatal Med 2018 Oct 29:1-7. Epub 2018 Oct 29.

b Department of Women's and Children's Health , Uppsala University , Uppsala , Sweden.

Objective: To identify antepartum and intrapartum risk factors for neonatal seizures in the absence of hypoxic ischemic encephalopathy (HIE).

Methods: Population-based case-control study. Of 98 484 births, 40 newborns at 34 gestational weeks or later had seizures within the first 7 days of life. Read More

Epileptic Disord 2018 10;20(5):440-446

Pediatric Neurology and Development Center, Assaf Harofe Medical Center, Zerifin,, Sackler faculty of medicine, Tel Aviv University, Tel Aviv.

Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Read More

Brain 2018 Nov;141(11):3160-3178

EuroEPINOMICS RES Consortium.

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals. Read More

J Neuropathol Exp Neurol 2018 Dec;77(12):1071-1078

Department of Pediatric Laboratory Medicine.

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consanguineous Chinese parents who presented with hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures, and worsening episodic apnea, leading to intubation and eventually death at 10 weeks of age. Whole exome sequencing revealed homozygous BRAT1 mutation, c. Read More

Seizure 2018 Nov 5;62:108-115. Epub 2018 Oct 5.

Neglected Tropical Diseases Unit, Ministry of Health, Juba, Sudan. Electronic address:

Purpose: To describe the clinical manifestations of persons with epilepsy (PWE) in onchocerciasis endemic villages in South Sudan.

Methods: During a survey in Maridi County in May 2018, PWE were interviewed and examined in their households by a clinical officer or medical doctor. Onchocerciasis-associated epilepsy (OAE) was defined as ≥2 seizures without any obvious cause, starting between the ages of 3-18 years in previously healthy persons who had resided for at least 3 years in the onchocerciasis endemic area. Read More

Dev Psychobiol 2018 Oct 18. Epub 2018 Oct 18.

Student Research Committee, Urmia University of Medical Sciences, Urmia, Iran.

This study investigated the effect of inflammation and MgSO pretreatment on behaviors caused by hyperthermia (HT) and the effect of these interventions on PTZ-induced seizure a week later. In this experimental study, rat pups experienced inflammation on postnatal day 10 (P10). On P18-19, the pups received either saline or MgSO then subjected to hyperthermia. Read More

Pediatr Neurol 2018 Nov 27;88:71-74. Epub 2018 Jul 27.

Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address:

Background: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.

Methods: We report four new patients from two families with the c. Read More

Ideggyogy Sz 2018 Sep;71(9-10):313-319

Pécsi Tudományegyetem, ÁOK-KK, Gyermekgyógyászati Klinika, Neurológiai Tanszék, Pécs.

Background And Purpose: Differential diagnosis of neonatal and infantile seizures based only on inspection poses a challenge even for specialists. Aims - To investigate the evaluations of neonatal and infantile paroxysmal events based only on inspection. Research question - Is there any difference in the opinion of neonatologists, paediatric neurologists and neurologists about the assessment of common paroxysmal events in infancy?

Methods: Video recordings about paroxysmal movements of 15 neonates or infants (aged 2 days- 5 months) were displayed for 47 paediatric neurologists, 35 neonatologists and nurses working in Neonatal or Perinatal Intensive Care Units and 43 neurologists. Read More

Front Neurol 2018 26;9:802. Epub 2018 Sep 26.

Neurology Laboratory, Institute of Pediatric Research, Children's Hospital of Soochow University, Suzhou, China.

The role of leptin in the pathogenesis of epilepsy is getting more and more attention in clinical and basic research. Although there are data indicating neuroprotective effects of elevated serum/brain leptin levels following acute seizures, no study to date has dealt with the impact of chronic leptin treatment on long-term brain injury following developmental seizures. The aim of this study was to evaluate whether chronic leptin treatment may have neuroprotective effects on cognitive and hippocampal mossy fiber sprouting following flurothyl-induced recurrent neonatal seizures and whether these effects are mediated by the zinc/CaMKII-associated mitophagy signaling pathway. Read More

J Child Neurol 2018 Dec 12;33(14):925-929. Epub 2018 Oct 12.

2 Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication. Read More

Epilepsy Behav 2018 Nov 5;88:212-217. Epub 2018 Oct 5.

Division of Neurology, Department of Pediatrics, UCLA Mattel Children's Hospital, USA; Department of Neurology, David Geffen School of Medicine at UCLA, USA.

Purpose: Seizures are common in term infants with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia. Although phenobarbital (PHB) is generally considered first-line therapy, some centers have embraced third-generation antiepileptic drugs (AEDs) such as levetiracetam (LEV) given the impression of comparable efficacy and superior tolerability. We set out to compare the efficacy of PHB and LEV in a large single-center cohort. Read More

Zhonghua Er Ke Za Zhi 2018 Oct;56(10):765-768

Department of Neonatology, Maternal and Children Hospital of Hubei Province, Wuhan 430070, China.

To summarize the clinical presentations and imaging features of cerebral venous sinus thrombosis (CVST) in 5 newborns. The clinical data of 5 newborns with CVST admitted to Department of Neonatology of Maternal and Children Hospital of Hubei Province from February 2017 to April 2018 were analyzed retrospectively. The risk factors, clinical presentations, imaging manifestations and treatment of CVST were investigated. Read More

J Clin Neurophysiol 2018 Oct 4. Epub 2018 Oct 4.

Departments of Pediatrics and Neurosciences, Rady Children's Hospital San Diego, University of California, San Diego, California.

Purpose: Continuous video electroencephalography (cEEG) monitoring is the recommended gold standard of care for at-risk neonates but is not available in many Neonatal Intensive Care Units (NICUs). To conduct a randomized treatment trial of levetiracetam for the first-line treatment of neonatal seizures (the NEOLEV2 trial), we developed a monitoring infrastructure at five NICUs, implementing recent technological advancements to provide continuous video EEG monitoring and real-time response to seizure detection. Here, we report on the feasibility of providing this level of care. Read More

Iran J Child Neurol 2018 ;12(4):103-110

Neuroscience Research Center,Qom University of Medical Sciences, Qom, Iran.

Objective: Seizure is the most common signs of nervous system disease in neonates. The first line of treatments in neonatal seizures (after ruling out and emergency treatment of electrolyte imbalance and hypoglycemia) are phenobarbital and phenytoin. We aimed to evaluate drugs that are more effective on neonatal seizure. Read More

Epilepsy Behav 2018 Nov 22;88:113-116. Epub 2018 Sep 22.

Department of Radiology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: There are few studies evaluating risk factors for poststroke epilepsy (PSE) after an arterial ischemic stroke (AIS) in childhood. This study aimed to evaluate clinical and radiological predictors for PSE in a cohort of children with a first-ever AIS.

Methods: A retrospective analysis of a single-center prospective consecutive cohort of children beyond neonatal age with a first-ever AIS admitted at the Pontifical Catholic University of Chile's Clinical Hospital between 2003 and 2013. Read More

AJP Rep 2018 Jul 20;8(3):e192-e194. Epub 2018 Sep 20.

Neonatology Department, "Puerta del Mar" University Hospital, Cadiz, Spain. Fundación Nene (Neonatal Neurology Research Group.

 Neonatal encephalopathy with seizures after general anesthesia not occurring in infants undergoing cardiac or major neurosurgery is very uncommon. An ischemic origin due to cerebral hypoperfusion from perioperative hypotension has been suggested, but there is a lack of a consensus definition for intraoperatory hypotension in neonates.  We report the first case of neonatal encephalopathy with seizures in a neonate with anorectal malformation. Read More

Neuropharmacology 2018 Dec 21;143:186-204. Epub 2018 Sep 21.

Department of Pharmacology, Toxicology, and Pharmacy, University of Veterinary Medicine Hannover, Germany; Center for Systems Neuroscience, Hannover, Germany. Electronic address:

Based on the potential role of Na-K-Cl cotransporters (NKCCs) in epileptic seizures, the loop diuretic bumetanide, which blocks the NKCC1 isoforms NKCC1 and NKCC2, has been tested as an adjunct with phenobarbital to suppress seizures. However, because of its physicochemical properties, bumetanide only poorly penetrates through the blood-brain barrier. Thus, concentrations needed to inhibit NKCC1 in hippocampal and neocortical neurons are not reached when using doses (0. Read More

J Clin Neurophysiol 2018 Nov;35(6):490-495

Department of Pediatrics, Division of Neurology, BC Children's Hospital, Vancouver, Canada.

Purpose: Midline spikes are epileptiform discharges localized to the midsagittal regions of the brain. Isolated midline spikes are rare, but more common in children. Our objective was to determine whether midline spikes are predictive of seizure characteristics and neurodevelopment. Read More

Pediatr Crit Care Med 2018 Dec;19(12):1162-1167

Department of Neurology, New York - Presbyterian, Columbia University Herbert and Florence Irving Medical Center, New York, NY.

Objectives: Standards for neuromonitoring during extracorporeal membrane oxygenation support do not currently exist, and there is wide variability in practice. We present our institutional experience at an academic children's hospital since establishment of a continuous electroencephalography monitoring protocol for extracorporeal membrane oxygenation patients.

Design: Retrospective, single-center study. Read More

J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709618800349. Epub 2018 Sep 18.

University of Texas Health Science Center at San Antonio, TX, USA.

Hemorrhagic shock is a rare, emergent condition that is often fatal in newborns. In this article, we report cases of 3 neonates presenting with acute, life-threatening hemorrhage who were subsequently diagnosed with severe hemophilia (<1% factor VIII). The first infant was tachycardic, pale, and had a precipitous drop in his hemoglobin secondary to a subgaleal hemorrhage. Read More

BMC Med Imaging 2018 09 20;18(1):33. Epub 2018 Sep 20.

Neonatal Health Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Neonate patients with metabolic disorder show encephalopathy and seizures that may lead to morbidity and mortality. Thus rapid detection and treatment of these patients is necessary. Although Amplitude-integrated electroencephalography (aEEG) has been used for more than a decade in the evaluation of infants with encephalopathy but has not been used in the assessment of neonates suffering from metabolic disorders. Read More

BMC Neurol 2018 Sep 20;18(1):150. Epub 2018 Sep 20.

Division of Pediatrics Neurology, China Medical University, Children's Hospital, Taichung, Taiwan.

Background: Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. Read More

J Matern Fetal Neonatal Med 2018 Sep 19:1-6. Epub 2018 Sep 19.

b University of Calgary.

Background: Perinatal hypoxia is a recognized cause of hypocalcemia in neonates in the first 3 days of life. Therapeutic hypothermia (TH) promotes neuroprotection by decreasing calcium influx into the cells during the reperfusion phase thereby increase serum calcium levels. This study examines the trends of serum calcium levels in neonates with hypoxic ischemic encephalopathy (HIE) and the effect of TH. Read More

Seizure 2018 Oct 11;61:221-226. Epub 2018 Sep 11.

Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.

Purpose: Electroencephalographic seizures (ES) are common among neonates with hypoxic-ischemic encephalopathy (HIE), and they represent a treatable complication that might improve neurodevelopmental outcomes. We aimed to establish whether higher ES exposure was predictive of unfavorable outcomes while adjusting for other important clinical and electroencephalographic parameters.

Methods: We performed a single-center, retrospective study of consecutive neonates with HIE managed with therapeutic hypothermia from June 2010 through December 2016. Read More