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Cold Spring Harb Mol Case Stud 2021 Jun 11;7(3). Epub 2021 Jun 11.

Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.

Rapid whole-genome sequencing (rWGS) has shown that genetic diseases are a common cause of infant mortality in neonatal intensive care units. Dried blood spots collected for newborn screening allow investigation of causes of infant mortality that were not diagnosed during life. Here, we present a neonate who developed seizures and encephalopathy on the third day of life that was refractory to antiepileptic medications. Read More

Brain Dev 2021 Jun 8. Epub 2021 Jun 8.

Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Background: PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal hypotonia, moderate to severe global developmental delay/intellectual disability (GDD/ID), facial dysmorphism, epileptic seizures, nonepileptic movement disorders, and ophthalmological problems. Read More

Pediatr Ann 2021 Jun 1;50(6):e245-e253. Epub 2021 Jun 1.

Seizures are a common neonatal neurological disorder with an incidence of 1 to 5 in 1,000 live births. Genetic and metabolic epilepsies account for 10% to 12% of all neonatal seizures. Correct identification and diagnosis are important factors, as they carry treatment and management implications. Read More

J Trop Pediatr 2021 May;67(2)

Division of Clinical Pharmacology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town 7505, South Africa.

Background: Intravenous phenobarbital remains the first-line therapy in the management of neonatal seizures. Shortages of intravenous phenobarbital in South Africa necessitated the addition of oral levetiracetam as part of management of neonatal seizures.

Objective: We evaluated the pharmacokinetics of crushed immediate-release levetiracetam tablets administered to neonates to terminate seizures. Read More

Am J Perinatol 2021 Jun 8. Epub 2021 Jun 8.

Neonatal-Perinatal Medicine, Children's Hospital of Michigan, Detroit, Michigan.

Objective:  The National Institute of Child Health and Human Development (NICHD) magnetic resonance imaging (MRI) pattern of brain injury is a known biomarker of childhood outcome following therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy (HIE). However, usefulness of this classification has not been evaluated to predict short-term outcomes. The study aimed to test the hypothesis that infants with NICHD MRI pattern of severe hypoxic-ischemic brain injury will be sicker with more severe asphyxia-induced multiorgan dysfunction resulting in prolonged length of stay (LOS) following therapeutic hypothermia. Read More

Eur J Paediatr Neurol 2021 May 26;33:75-85. Epub 2021 May 26.

Department of Pediatric Neurology and Neurosurgery, CHU Angers, France; Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers, France.

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Read More

Int J Gynaecol Obstet 2021 Jun 8. Epub 2021 Jun 8.

Department of Obstetrics and Gynecology, MBBM Foundation, San Gerardo Hospital, University of Milan, Bicocca School of Medicine and Surgery, Monza, Italy.

Objective: To define similarities and differences between neonatal arterial ischemic stroke (NAIS) and hypoxic-ischemic neonatal encephalopathy (HINE).

Methods: A retrospective case-control study was conducted of neonates born at 35 weeks or more and weighing 1800 g or more at a tertiary care university hospital, between 2005 and 2016, with NAIS (group A), perinatal asphyxia (PA) with Stage II-III HINE (group B), and PA with or without Stage I HINE (group C). Ante- and intrapartum data, neonatal characteristics, and placental histopathology were compared. Read More

Front Neurol 2021 19;12:653517. Epub 2021 May 19.

Pediatric Department, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Nav1.2 encoded by the gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in -related epilepsy. Read More

J Educ Health Promot 2021 31;10:118. Epub 2021 Mar 31.

Department of Pharmacology, Raiganj Government Medical College and Hospital, Raiganj, West Bengal, India.

Background: Neonatal seizure (NS) reflects serious underlying brain injury, requiring immediate evaluation and early treatment. In neonates, phenobarbitone and phenytoin are used primarily to control the seizures. If uncontrolled, widespread off-label use of midazolam and levetiracetam was practiced. Read More

Neurology 2021 Jun 2. Epub 2021 Jun 2.

Division of Pediatric Neurology, Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor.

Objective: To determine whether screening continuous EEG monitoring (cEEG) is associated with greater odds of treatment success for neonatal seizures.

Methods: We included term neonates with acute symptomatic seizures enrolled in the , a prospective, multicenter cohort of neonates with seizures. We compared two cEEG approaches: (1) Screening cEEG, initiated for indications of encephalopathy or paralysis without suspected clinical seizures, and (2) Confirmatory cEEG, initiated for the indication of clinical events suspicious for seizures, either alone or in addition to other indications. Read More

Reprod Health 2021 Jun 2;18(1):110. Epub 2021 Jun 2.

Department of Women and Children's Health, School of Life Course Sciences, King's College London, London, UK.

Background: Pre-eclampsia is a leading cause of maternal and perinatal mortality and morbidity globally. Planned delivery between 34 and 36 weeks may reduce adverse pregnancy outcomes but is yet to be evaluated in a low and middle-income setting. Prior to designing a randomised controlled trial to evaluate this in India and Zambia, we carried out a 6-month feasibility study in order to better understand the proposed trial environment and guide development of our intervention. Read More

Int J Neonatal Screen 2021 May 14;7(2). Epub 2021 May 14.

Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.

Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in , , or genes result in enzyme deficiency. We report the case of a female infant who presented with mild gross motor delay at 4 months, and seizures with hypoglycaemia at 5 months. Read More

Childs Nerv Syst 2021 May 28. Epub 2021 May 28.

Department of Pediatrics, Faculty of Medicine, Training and Research Hospital, Bolu Abant Izzet Baysal University, Bolu, Turkey.

Purpose: The aim of this study is to examine the factors affecting seizure recurrence in pediatric patients diagnosed with epilepsy.

Methods: Three hundred patients presenting to the pediatric neurology clinic between 2015 and 2018 and diagnosed with epilepsy and treated with single antiseizure drug were included in the study. Medical histories and clinical and laboratory findings were retrieved retrospectively from the hospital data system. Read More

Arch Dis Child Fetal Neonatal Ed 2021 May 27. Epub 2021 May 27.

Academic Child Health, School of Medicine, University of Nottingham, Nottingham, UK

Objective: Therapeutic hypothermia (TH) for neonatal hypoxic-ischaemic encephalopathy (HIE), delivered mainly in tertiary cooling centres (CCs), reduces mortality and neurodisability. It is unknown if birth in a non-cooling centre (non-CC), without active TH, impacts short-term outcomes.

Design: Retrospective cohort study using National Neonatal Research Database and propensity score-matching. Read More

Brain 2021 May 26. Epub 2021 May 26.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the three subunits VPS51, VPS52, and VPS53, while VPS50 is unique to EARP and VPS54 to GARP. Retrograde transport of endosomal cargos to the TGN is mediated by GARP and endocytic recycling by EARP. Read More

Exp Ther Med 2021 Jul 13;22(1):760. Epub 2021 May 13.

Neonatology and Puericulture Department, 'Victor Babeş' University of Medicine and Pharmacy of Timisoara, 300041 Timisoara, Romania.

Newborns admitted to the Neonatal Intensive Care Unit (NICU) require increased attention regarding neurological assessment and monitoring, due to immaturity or certain conditions that occur during the perinatal and neonatal period. Hypoxic-ischemic encephalopathy (HIE) following perinatal asphyxia is one of the most studied clinical conditions due to the risk of medium- and long-term neurobehavioral outcome. We studied 43 newborns with HIE, for all 3 degrees of impairment, performed amplitude-integrated electroencephalography (aEEG) in the first hours of life and collected common laboratory tests, following serum glycemia at admission and creatinine, creatine kinase (CK) and lactate dehydrogenase (LDH) at admission and in the 3 day of life. Read More

J Med Case Rep 2021 May 25;15(1):300. Epub 2021 May 25.

Department of Neonatal Medicine and Pediatric Intensive Care, Arnaud de Villeneuve Hospital, Montpellier University Hospital Center, 371 Avenue du Doyen Gaston Giraud, 34295, Montpellier Cedex 5, France.

Background: Cardiac and neurological involvement in hemolytic uremic syndrome are life-threatening complications. The most frequent complications of cardiac involvement in hemolytic uremic syndrome are myocarditis and cardiac dysfunction due to fluid overload. Pericarditis remains very rare in hemolytic uremic syndrome. Read More

JAMA Neurol 2021 May 24. Epub 2021 May 24.

Department of Pediatrics, University of Michigan, Ann Arbor.

Importance: Antiseizure medication (ASM) treatment duration for acute symptomatic neonatal seizures is variable. A randomized clinical trial of phenobarbital compared with placebo after resolution of acute symptomatic seizures closed early owing to low enrollment.

Objective: To assess whether ASM discontinuation after resolution of acute symptomatic neonatal seizures and before hospital discharge is associated with functional neurodevelopment or risk of epilepsy at age 24 months. Read More

Front Genet 2021 7;12:615072. Epub 2021 May 7.

Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

The annular pancreas (AP) is a congenital anomaly of the pancreas that can cause acute abdominal pain and vomiting after birth. However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data of individuals from January 2016 to June 2020 for 17q12 duplication. Read More

Front Genet 2021 7;12:607085. Epub 2021 May 7.

Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.

Aim: To explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort.

Methods: Homocysteine and uric acid in plasma and cysteine and total homocysteine in the blood spot were assessed in a Chinese newborn patient with progressive encephalopathy, tonic seizures, abnormal muscle tone, and feeding difficulties. Whole exome sequencing and Sanger sequencing facilitated an accurate diagnosis. Read More

J Neonatal Perinatal Med 2021 May 18. Epub 2021 May 18.

Department of Biochemistry, University College of Medical sciences and Guru Teg Bahadur Hospital, Delhi, India.

Objectives: Neonatal seizures are significant cause of neonatal mortality and morbidity. Current study was planned to study prevalence of adverse outcomes in neonatal seizures and identify its predictors.

Methods: This observational descriptive study was carried out on 220 neonates with seizures. Read More

Clin Neurophysiol 2021 Jul 16;132(7):1452-1461. Epub 2021 Apr 16.

Department of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, University Utrecht, Utrecht, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede and Zwolle, the Netherlands.

Objective: Neonatal seizures are often the first symptom of perinatal brain injury. High-frequency oscillations (HFOs) are promising new biomarkers for epileptogenic tissue and can be found in intracranial and surface EEG. To date, we cannot reliably predict which neonates with seizures will develop childhood epilepsy. Read More

Arch Dis Child Fetal Neonatal Ed 2021 May 21. Epub 2021 May 21.

Department of Obstetrics, Gynecology and Reproductive Sciences, The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School, Houston, Texas, USA

Objective: Central nervous system (CNS) derived exosomes can be purified from peripheral blood and have been used widely in adult neurological disease. Application to neonatal neurological disease deserves investigation in the setting of hypoxic-ischaemic encephalopathy (HIE).

Design: Observational cohort. Read More

Pediatr Neurol 2021 Apr 28;120:52-58. Epub 2021 Apr 28.

Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland; Neurosciences Intensive Care Nursery, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address:

Background: Subpial hemorrhages are underrecognized, underreported, and poorly understood. The spectrum of their clinical manifestations and consequences in neonates has not been fully described. Here, we describe the demographic, clinical, and radiographic characteristics of neonates with subpial hemorrhages. Read More

Trop Doct 2021 May 21:494755211016226. Epub 2021 May 21.

Assistant Professor, Division of Paediatric Critical Care, Department of Paediatrics, Advanced Paediatric Centre, Postgraduate Institute of Medical Education and Research (29751PGIMER), Chandigarh, India.

Neonatal seizures are common manifestations of several neurological or systemic disorders and associated with high morbidity, mortality and poor short- and long-term developmental outcomes. It is important to determine the aetiology and factors that determine the poor outcome, more so in a newly developed setting. The early detection of predictors of poor outcome will help in planning acute management, counselling, follow-up and rehabilitation services. Read More

Pediatr Infect Dis J 2021 07;40(7):e266-e267

Department of Pediatrics, Section of Newborn Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Indian Pediatr 2021 May 20. Epub 2021 May 20.

Department of Pediatrics, Kasturba Medical College, Manipal Academy of Higher Education (MAHE), Manipal, Karnataka. Correspondence to: Dr Jayashree Purkayastha, Professor, Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education (MAHE), Karnataka, India.

Objective: To study the serum vitamin D levels in neonatal seizures and vitamin D status of the mothers whose babies had vitamin D deficiency.

Methods: For this case-control study, vitamin D levels were studied in term and late preterm neonates admitted to NICU with seizures in a tertiary care center in South India. Controls were term and late preterm healthy neonates admitted in the postnatal ward with the mothers in the same center. Read More

Mol Cell Neurosci 2021 Jun 18;113:103629. Epub 2021 May 18.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America. Electronic address:

Cognitive comorbidities often follow early-life seizures (ELS), especially in the setting of autism and other neurodevelopmental syndromes. However, there is an incomplete understanding of whether neuronal and synaptic development are concomitantly dysregulated. We have previously shown that hypoxia-induced seizures (HS) in postnatal day (P)10 rats increase acute and later-life hippocampal glutamatergic neurotransmission and spontaneous recurrent seizures, and impair cognition and behavior. Read More

J Clin Res Pediatr Endocrinol 2021 05 20. Epub 2021 May 20.

Umraniye Training and Research Hospital, Department of Pediatrics, Division of Neonatology, Istanbul, Turkey.

Objective: Late neonatal hypocalcemia (LNH) is a common metabolic problem associated with hypoparathyroidism, high phosphate intake and vitamin D deficiency (VDD), often presenting with seizures. In this cross-sectional study, we aimed to evaluate the role of VDD in LNH in Turkey and to describe the characteristics of affected newborns.

Methods: Conducted in a cross-sectional design with the participation of 61 neonatal centers from December 2015 to December 2016, the study included term neonates with LNH (n=96) and their mothers (n=93). Read More