9,934 results match your criteria Seizures Neonatal

Complexities of pyridoxine response in PNPO deficiency.

Epilepsy Behav Rep 2021 3;16:100443. Epub 2021 Apr 3.

Pediatric Neurology, Department of Pediatrics, Kalawati Saran Children's Hospital, Delhi, India.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Read More

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A founder mutation in the gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

JIMD Rep 2021 May 23;59(1):32-41. Epub 2021 Feb 23.

Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.

Pyridoxine-dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to vitamin B6 treatment. Whole exome sequencing of three unrelated families identified homozygous pathogenic mutation c. Read More

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Cesarean delivery at term for non-reassuring fetal heart rate tracing: risk factors and predictability.

J Matern Fetal Neonatal Med 2021 May 9:1-7. Epub 2021 May 9.

Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.

Objective: To delineate risk factors for adverse outcomes among those who underwent cesarean delivery (CD) for non-reassuring fetal heart rate tracing (NRFHT) and ascertain whether neonatal or maternal morbidity can be predicted accurately.

Methods: The Consortium on Safe Labor Database was utilized for this secondary analysis. Inclusion criteria were non-anomalous, singleton gestations between 37. Read More

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Association of Maternal Immune Activation during Pregnancy and Neurological Outcomes in Offspring.

J Pediatr 2021 May 6. Epub 2021 May 6.

Division of Neonatology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA; Newborn Brain Research Institute, University of California, San Francisco, San Francisco, CA; Weill Institute for Neuroscience, UCSF, San Francisco, CA; Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:

Objective: To evaluate neurologic morbidity among offspring during their first year of life in association with prenatal maternal immune activation (MIA), using an inclusive definition.

Study Design: This retrospective cohort study included singletons born in California between 2011 and 2017. MIA was defined by International Classification of Diseases (ICD) diagnosis of infection, autoimmune disorder, allergy, asthma, atherosclerosis, or malignancy during pregnancy. Read More

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Short-term outcomes in infants with mild neonatal encephalopathy: a retrospective, observational study.

BMC Pediatr 2021 May 7;21(1):224. Epub 2021 May 7.

Department of Neonatology, Tokyo Metropolitan Children's Medical Center, 2-8-9 Musashidai, Fuchu, 183-8561, Tokyo, Japan.

Background: Neonatal encephalopathy due to acute perinatal asphyxia is a major cause of perinatal brain damage. Moderate to severe neonatal encephalopathy is associated with high mortality and morbidity rates. However, the neurodevelopmental outcomes in neonates with mild neonatal encephalopathy are unclear. Read More

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COG1-congenital disorders of glycosylation: Milder presentation and review.

Clin Genet 2021 May 7. Epub 2021 May 7.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Congenital disorders of glycosylation (CDG) are a heterogeneous group of genetic defects in glycoprotein and glycolipid glycan synthesis and attachment. A CDG subgroup are defects in the conserved oligomeric Golgi complex encoded by eight genes, COG1-COG8. Pathogenic variants in all genes except the COG3 gene have been reported. Read More

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ACR Appropriateness Criteria® Seizures-Child.

J Am Coll Radiol 2021 May;18(5S):S199-S211

Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.

In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures. Read More

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Outcomes of the First Pregnancy After Fertility-Sparing Surgery for Early-Stage Ovarian Cancer.

Obstet Gynecol 2021 May 6. Epub 2021 May 6.

Department of Gynecologic Oncology and Reproductive Medicine, the Department of Health Services Research, Division of Cancer Prevention and Population Sciences, and the Department of Breast Medical Oncology, the University of Texas MD Anderson Cancer Center, Houston, Texas; the Department of Obstetrics and Gynecology, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts; the Department of Obstetrics and Gynecology, the University of Texas Medical Branch at Galveston, Galveston, Texas; and the Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Columbia University Vagelos College of Physicians and Surgeons, and the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, New York.

Objective: To evaluate the outcomes of the first pregnancy after fertility-sparing surgery in patients treated for early-stage ovarian cancer.

Methods: We performed a retrospective study of women aged 18-45 years with a history of stage IA or IC ovarian cancer reported to the California Cancer Registry for the years 2000-2012. These data were linked to the 2000-2012 California Office of Statewide Health Planning and Development birth and discharge data sets to ascertain oncologic characteristics and obstetric outcomes. Read More

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A combination of phenobarbital and the bumetanide derivative bumepamine prevents neonatal seizures and subsequent hippocampal neurodegeneration in a rat model of birth asphyxia.

Epilepsia 2021 May 6. Epub 2021 May 6.

Department of Pharmacology, Toxicology, and Pharmacy, University of Veterinary Medicine Hannover, Hannover, Germany.

Objectives: Bumetanide was suggested as an adjunct to phenobarbital for suppression of neonatal seizures. This suggestion was based on the idea that bumetanide, by reducing intraneuronal chloride accumulation through inhibition of the Na-K-2Cl cotransporter NKCC1, may attenuate or abolish depolarizing γ-aminobutyric acid (GABA) responses caused by birth asphyxia. However, a first proof-of-concept clinical trial failed. Read More

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Association of Total Sarnat Score with brain injury and neurodevelopmental outcomes after neonatal encephalopathy.

Arch Dis Child Fetal Neonatal Ed 2021 May 5. Epub 2021 May 5.

Centre for Perinatal Neuroscience, Brain Sciences Department, Imperial College of Science Technology and Medicine, London, UK.

We examined the association of Total Sarnat Score (TSS) with brain injury on neonatal magnetic resonance (MR) and adverse neurodevelopmental outcome (NDO) (death or moderate or severe disability) at 2 years of age in 145 infants undergoing therapeutic hypothermia for neonatal encephalopathy. TSS was associated with basal ganglia/thalamic injury on conventional MR (p=0.03) and thalamic N-acetyl aspartate on MR spectroscopy (R=0. Read More

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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.

Epilepsia 2021 May 5. Epub 2021 May 5.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Objective: The clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration of the fundamental clinical entities that comprise an epilepsy is essential in the study of causes, trajectories, and treatment responses. The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. Read More

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A Decision-Tree Approach to Assist in Forecasting the Outcomes of the Neonatal Brain Injury.

Int J Environ Res Public Health 2021 Apr 30;18(9). Epub 2021 Apr 30.

Dental and Nursing Medical Department, Faculty of Medicine, Lucian Blaga University Sibiu, 550169 Sibiu, Romania.

Neonatal brain injury or neonatal encephalopathy (NE) is a significant morbidity and mortality factor in preterm and full-term newborns. NE has an incidence in the range of 2.5 to 3. Read More

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The Association between the Number of Vacuum Pop-offs and Adverse Neonatal Outcomes.

Am J Perinatol 2021 May 3. Epub 2021 May 3.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

Objective:  Obstetrical vacuum manufacturers have long recommended a maximum of two to three pop-offs be allowed before abandoning the procedure. However, there is a paucity of evidence on the safety of vacuum-assisted vaginal delivery in relation to the number of pop-offs to support this recommendation. Our objective was to examine whether the number of pop-offs in a vacuum-assisted vaginal delivery was associated with adverse neonatal outcomes. Read More

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Pilot study of a single-channel EEG seizure detection algorithm using machine learning.

Childs Nerv Syst 2021 May 3. Epub 2021 May 3.

Department of Pediatric Neurosurgery, Severance Children's Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Korea.

Objective: Seizures are one of the most common emergencies in the neonatal intensive care unit (NICU). They are identified through visual inspection of electroencephalography (EEG) reports and treated by neurophysiologic experts. To support clinical seizure detection, several feature-based automatic neonatal seizure detection algorithms have been proposed. Read More

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The visibility of the periventricular crossroads of pathways in preterm infants as a predictor of neurological outcome and occurrence of neonatal epileptic seizures.

Croat Med J 2021 Apr;62(2):165-172

Branka Bunoza, Department of Pediatrics, University Hospital Centre Zagreb, Kišpatićeva 12, 10 000 Zagreb, Croatia,

Aim: To evaluate the relationship between the neurological outcome, neonatal epileptic seizures, and signal-intensity visibility of the frontal and parietal periventricular crossroads of pathways on brain magnetic resonance imaging (MRI) in preterm infants at term-equivalent age.

Methods: The study enrolled 48 preterm infants born between 2012 and 2016. The signal-intensity characteristics of the frontal and parietal periventricular crossroads were evaluated and classified into four grades. Read More

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Centre-specific differences in short-term outcomes in neonates with hypoxic-ischaemic encephalopathy.

Swiss Med Wkly 2021 Mar 5;151:w20489. Epub 2021 Apr 5.

Clinic of Neonatology, Cantonal Hospital Winterthur, Switzerland.

Aims Of The Study: To investigate and compare the centre-specific short-term outcome indicators seizures, arterial hypotension, infection and mortality during therapeutic hypothermia until discharge from the neonatal/paediatric intensive care unit in term and near-term neonates with hypoxic-ischaemic encephalopathy (HIE) registered in the Swiss National Asphyxia and Cooling Register between 2011 and 2018.

Methods: Retrospective analysis of prospectively collected national register data between 1 January 2011 and 31 December 2018. Pregnancy, maternal, delivery and neonatal characteristics were compared between the centres. Read More

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Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Int J Mol Sci 2021 Apr 18;22(8). Epub 2021 Apr 18.

Child Neuropsychiatry Unit, University Hospital of Parma, 43126 Parma, Italy.

Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000-2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. Read More

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Knowledge and attitudes of critical care providers towards neurophysiological monitoring, seizure diagnosis, and treatment.

Dev Med Child Neurol 2021 Apr 28. Epub 2021 Apr 28.

Department of Paediatric and Neonatal Neurology, Ryegate Children's Centre, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Aim: To explore the attitudes of paediatric intensive care unit (PICU) health care professionals towards diagnosis and neurophysiological monitoring of seizures.

Method: This study used an explanatory sequential mixed-methods approach, interconnecting quantitative and qualitative features, comprising questionnaires and interviews, with equal weighting between stages, of health care professionals working in UK PICUs. Interview data were analysed using thematic analysis and triangulated with questionnaire data. Read More

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Rapamycin, but not minocycline, significantly alters ultrasonic vocalization behavior in C57BL/6J pups in a flurothyl seizure model.

Behav Brain Res 2021 Apr 25;410:113317. Epub 2021 Apr 25.

Institute of Biomedical Studies, Baylor University, Waco, TX, 76798, USA; Department of Psychology and Neuroscience, Baylor University, Waco, TX, 76798, USA; Department of Biology, Baylor University, Waco, TX, 76798, USA.

Epilepsy is one of the most common neurological disorders, with individuals having an increased susceptibility of seizures in the first few years of life, making children at risk of developing a multitude of cognitive and behavioral comorbidities throughout development. The present study examined the role of PI3K/Akt/mTOR pathway activity and neuroinflammatory signaling in the development of autistic-like behavior following seizures in the neonatal period. Male and female C57BL/6J mice were administered 3 flurothyl seizures on postnatal (PD) 10, followed by administration of minocycline, the mTOR inhibitor rapamycin, or a combined treatment of both therapeutics. Read More

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Neonatal Epileptic Encephalopathies.

Semin Pediatr Neurol 2021 Apr 4;37:100880. Epub 2021 Mar 4.

Department of Pediatrics, Baylor College of Medicine, San Antonio, TX; The Children's Hospital of San Antonio, San Antonio, TX.

The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and intervention. In this review, we provide a summary of the benign and severe neonatal epilepsy syndromes. Read More

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain 2021 Apr 21. Epub 2021 Apr 21.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. Read More

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Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency.

J Allergy Clin Immunol 2021 Apr 16. Epub 2021 Apr 16.

Division of Immunology and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.

Background: The recognition of viral nucleic acids is one of the primary triggers for a type I interferon-mediated antiviral immune response. Inborn errors of type I interferon immunity can be associated with increased inflammation and/or increased susceptibility to viral infections, as a result of dysbalanced interferon production. NFX1-type zinc-finger-containing 1 (ZNFX1) is an interferon-stimulated double-strand RNA sensor that restricts the replication of RNA viruses in mice. Read More

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.

Pediatr Dermatol 2021 Apr 19. Epub 2021 Apr 19.

Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.

Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. Read More

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Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With Deficiency.

Front Genet 2021 1;12:644447. Epub 2021 Apr 1.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Objective: To describe the clinical characteristics of 12 patients from six families with pyridoxine-dependent epilepsy (PDE) carrying mutations, and analyze the impact of early diagnosis and treatment, as well as possible genotype-phenotype relationship.

Methods: Clinical and genetics data of 12 patients were collected.

Results: Family 1-3 presented with symptoms in the neonatal period, while family 4-6 presented during early infancy. Read More

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Convolutional neural networks ensemble model for neonatal seizure detection.

J Neurosci Methods 2021 Apr 20;358:109197. Epub 2021 Apr 20.

Department of Mechatronics and Biomedical Engineering, Air University, Islamabad, Pakistan.

Background: Neonatal seizures are a common occurrence in clinical settings, requiring immediate attention and detection. Previous studies have proposed using manual feature extraction coupled with machine learning, or deep learning to classify between seizure and non-seizure states.

New Method: In this paper a deep learning based approach is used for neonatal seizure classification using electroencephalogram (EEG) signals. Read More

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Loss of KCNQ2 or KCNQ3 leads to multifocal time-varying activity in the neonatal forebrain .

eNeuro 2021 Apr 15. Epub 2021 Apr 15.

Dept. of Physiology and Neurobiology, University of Connecticut, Storrs, CT 06269, USA

Early neonatal epileptic encephalopathy represents a group of epilepsies often characterized by refractory seizures, regression in cognitive development, and typically poor prognosis. Dysfunction of KCNQ2 and KCNQ3 channels has emerged as a major cause of neonatal epilepsy. However, our understanding of the cellular mechanisms that may both explain the origins of epilepsy and inform treatment strategies for KCNQ2 and KCNQ3 dysfunction is still lacking. Read More

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Neonatal outcomes and risk of neonatal sepsis in an expectantly managed cohort of late preterm prelabor rupture of membranes.

Eur J Obstet Gynecol Reprod Biol 2021 Apr 1;261:1-6. Epub 2021 Apr 1.

Obstetrics and Gynecology, University of Milano-Bicocca, FMBBM Monza, Carate Hospital, Lecco Hospital, Italy.

Objective: Expectant management in patients with prelabor preterm rupture of membranes between between 34 and 36 weeks (late preterm pPROM or LpPROM) has been shown to decrease the burden of prematurity, when compared to immediate delivery. As the severity of prematurity depends on gestational age (GA) at PROM, and PROM to delivery interval, we first investigated how such variables affect neonatal outcomes (NO). Second, we assessed the risk of neonatal sepsis. Read More

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Electroencephalography monitoring in the neonatal intensive care unit: a Chinese perspective.

Transl Pediatr 2021 Mar;10(3):552-559

Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Background: Electroencephalography (EEG) is an accessible technique for bedside monitoring of the cerebral function in the neonatal intensive care unit (NICU). The popularization of EEG in the field of newborns in China is relatively late compared with western countries. To learn more about current practices and improvement of EEG monitoring, we conducted a survey to describe current utilization of EEG in NICU in China. Read More

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Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.

Pediatr Res 2021 Apr 12. Epub 2021 Apr 12.

Department of Neurology, University of California San Francisco, San Francisco, CA, USA.

Background: The contribution of pathogenic gene variants with development of epilepsy after acute symptomatic neonatal seizures is not known.

Methods: Case-control study of 20 trios in children with a history of acute symptomatic neonatal seizures: 10 with and 10 without post-neonatal epilepsy. We performed whole-exome sequencing (WES) and identified pathogenic de novo, transmitted, and non-transmitted variants from established and candidate epilepsy association genes and correlated prevalence of these variants with epilepsy outcomes. Read More

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