667 results match your criteria Women's Health and Epilepsy

Association of Intellectual Disability With All-Cause and Cause-Specific Mortality in Sweden.

JAMA Netw Open 2021 Jun 1;4(6):e2113014. Epub 2021 Jun 1.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Importance: Knowledge of the health challenges and mortality in people with intellectual disability (ID) should guide health policies and practices in contemporary society.

Objective: To examine premature mortality in individuals with ID.

Design, Setting, And Participants: This population-based longitudinal cohort study obtained data from several national health care, education, and population registers in Sweden. Read More

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Maternal morbidity and mortality associated with epilepsy.

J Matern Fetal Neonatal Med 2021 Jun 21:1-7. Epub 2021 Jun 21.

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Columbia University Irving Medical Center, New York, NY, USA.

Objective: Prior research demonstrated large increased risk for maternal mortality among women with epilepsy. The objective of this study was to estimate risk for adverse maternal outcomes during delivery hospitalizations among women with epilepsy.

Methods: Truven Health MarketScan databases were used to compare risk for adverse maternal outcomes during delivery hospitalizations based upon whether there was diagnosis of epilepsy and receipt of anti-epileptic drugs prior to delivery. Read More

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Contextualizing ovarian pain in the late 19th century - Part 2: Ovarian-based treatments of "hysteria".

J Hist Neurosci 2021 Jun 17:1-15. Epub 2021 Jun 17.

Departments of Community Health Sciences and History, Hotchkiss Brain Institute and O'Brien Institute for Public Health, University of Calgary, Calgary, Alberta, Canada.

The peculiar therapeutic practice of "ovarian compression"-paradoxically, both in initiating and in terminating hysterical activity-remains largely unexplained territory from both historical and medical perspectives. The gynecological indications of "hysteria" and "hystero-epilepsy" are now considered to be among similar questionable indications as contemporaneous "nymphomania" and "epilepsy." This article analyzes historical clinical observations, as well as surgical experiences of the time, to determine if there has been a uniform understanding of the ovarian contribution to "hystero-epilepsy. Read More

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Contextualizing ovarian pain in the late 19th century-Part 1: Women with "hysteria" and "hystero-epilepsy".

J Hist Neurosci 2021 Jun 17:1-14. Epub 2021 Jun 17.

Departments of Community Health Sciences and History, Hotchkiss Brain Institute and O'Brien Institute for Public Health, University of Calgary, Calgary, Alberta, Canada.

"Hysteria" and "hystero-epilepsy" were common medical diagnoses among physicians during the nineteenth century. In Paris, -originally a hospice for the poor and a prison for prostitutes and other female inmates-became a center of great interest for the possible role of neurological diseases in these conditions. At the same time in the Americas and Europe, gynecologists were removing women's ovaries in cases with the same clinical conditions, which emphasized the role of the ovaries in contemporary hysteria studies in France, Great Britain, and the United States. Read More

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Is sexual trauma a risk factor for functional (psychogenic) seizures?

Neurosci Biobehav Rev 2021 Jun 11;128:58-63. Epub 2021 Jun 11.

Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

The relationship between functional seizures (FS) and sexual trauma has received attention in many previous studies. However, the mechanisms underlying this relationship have not been elucidated yet. The purpose of this narrative review is to explore and speculate on the underpinning neurobiological mechanisms for the association and link between sexual trauma and functional seizures. Read More

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Two-Year-Old Cognitive Outcomes in Children of Pregnant Women With Epilepsy in the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Study.

JAMA Neurol 2021 Jun 7. Epub 2021 Jun 7.

Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Importance: The neurodevelopmental risks of fetal exposure are uncertain for many antiseizure medications (ASMs).

Objective: To compare children at 2 years of age who were born to women with epilepsy (WWE) vs healthy women and assess the association of maximum ASM exposure in the third trimester and subsequent cognitive abilities among children of WWE.

Design, Setting, And Participants: The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study is a prospective, observational, multicenter investigation of pregnancy outcomes that enrolled women from December 19, 2012, to January 13, 2016, at 20 US epilepsy centers. Read More

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Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.

Front Neurol 2021 20;12:673135. Epub 2021 May 20.

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

Purified cannabidiol (CBD) was administered to highly refractory patients with Dravet (DS) or Lennox-Gastaut (LGS) syndromes in an ongoing expanded access program (EAP). Herein, we report interim results on CBD safety and seizure outcomes in patients treated for a 12-month period. Thirty centers were enrolled from December 2018 to December 2019 within the open-label prospective EAP up to a maximum of 25 mg/kg per day. Read More

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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Hum Mutat 2021 Jun 3. Epub 2021 Jun 3.

Neurogenetics, Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.

PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants in PCDH19 cause infantile-onset epilepsy known as PCDH19-clustering epilepsy or PCDH19-CE. Recent advances in DNA-sequencing technologies have led to a significant increase in the number of reported PCDH19-CE variants, many of uncertain significance. Read More

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HECW2-related disorder in four Japanese patients.

Am J Med Genet A 2021 May 28. Epub 2021 May 28.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

The HECT, C2, and WW domain containing E3 ubiquitin protein ligase 2 gene (HECW2) is involved in protein ubiquitination. Several genes associated with protein ubiquitination have been linked to neurodevelopmental disorders. HECW2-related disorder has been established through the identification of de novo variants in HECW2 in patients with neurodevelopmental disorders with hypotonia, seizures, and absent language. Read More

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Association of Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Neurology 2021 05 23;96(18):e2251-e2260. Epub 2021 Mar 23.

From the Adelaide Medical School, Faculty of Health and Medical Sciences (S.E.H., A.E.G., M.A.C., J.G.), and Robinson Research Institute (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (B.M.R., R.V.H., M.C., B.E.G., M.F.B., S.P., M.S.H., I.E.S., S.F.B.), Austin Health, University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (M.F.B., M.B.), University of Melbourne, Parkville, Australia; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia; Department of Neurology (M.R.S.), Thomas Jefferson University, Philadelphia, PA; Department of Neurology (S.H.), Montefiore Medical Center, Albert Einstein College of Medicine, New York, NY; Institute of Neurology and Neurosurgery at Saint Barnabas (E.B.G.), Livingston, NJ; Department of Neurology (P.W.-W.), Beaumont Hospital, Dublin, Ireland; Royal Brisbane and Women's Hospital (J.T.P.), Brisbane, Australia; Centre for Genomics Research (S.P.), Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK; Institute for Genomic Medicine (E.L.H.), Columbia University Medical Center, New York, NY; Murdoch Children's Research Institute (M.S.H., I.E.S.), Parkville; Department of Paediatrics (I.E.S.), Royal Children's Hospital, University of Melbourne; Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne; and Healthy Mothers, Babies and Children (J.G.), South Australian Health and Medical Research Institute, Adelaide, Australia.

Objective: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we sequenced the genomes of family members, and then determined the contribution of the identified gene to the pathogenicity of epilepsies by examining sequencing data from 2,772 additional patients.

Methods: We performed whole genome sequencing of 3 members of a GEFS+ family. Subsequently, whole exome sequencing data from 1,165 patients with epilepsy from the Epi4K dataset and 1,329 Australian patients with epilepsy from the Epi25 dataset were interrogated. Read More

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Novel Truncating and Missense Variants in in Patients With Early-Onset Epilepsy.

Front Cell Dev Biol 2021 4;9:633819. Epub 2021 May 4.

Laboratory of Molecular Diagnosis, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B () gene has been recently reported a causal gene of PME. Independent studies are warranted to further support these findings. Read More

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Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Sci Transl Med 2021 May;13(594)

Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK.

Most inherited neurodegenerative disorders are incurable, and often only palliative treatment is available. Precision medicine has great potential to address this unmet clinical need. We explored this paradigm in dopamine transporter deficiency syndrome (DTDS), caused by biallelic loss-of-function mutations in , encoding the dopamine transporter (DAT). Read More

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Effects of the Menstrual Cycle on Neurological Disorders.

Curr Neurol Neurosci Rep 2021 05 10;21(7):34. Epub 2021 May 10.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

Purpose Of Review: The menstrual cycle involves recurrent fluctuations in hormone levels and temperature via neuroendocrine feedback loops. This paper reviews the impact of the menstrual cycle on several common neurological conditions, including migraine, seizures, multiple sclerosis, stroke, and Parkinson's disease.

Recent Findings: The ovarian steroid hormones, estrogen and progesterone, have protean effects on central nervous system functioning that can impact the likelihood, severity, and presentation of many neurological diseases. Read More

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A survey of child neurologists about reproductive healthcare for adolescent women with epilepsy.

Epilepsy Behav 2021 Jul 5;120:108001. Epub 2021 May 5.

UPMC Children's Hospital of Pittsburgh, Division of Adolescent and Young Adult Medicine, 4401 Penn Avenue, Pittsburgh, PA 15224, United States; Center for Women's Health Research and Innovation, University of Pittsburgh, 4200 Fifth Avenue, Pittsburgh, PA 15260, United States.

Objective: To evaluate child neurologists' knowledge, attitudes, and practices regarding sexual and reproductive health (SRH) care for adolescent and young adult women with epilepsy (WWE).

Methods: Child neurologists (including attending physicians, residents, fellows, and advanced practitioners) completed an online survey distributed through subspecialty listservs. We analyzed results using descriptive statistics, chi-square, and logistic regression. Read More

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MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.

Neuropathol Appl Neurobiol 2021 May 3. Epub 2021 May 3.

Department of (Neuro) Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.

Aims: Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to cortical tubers in the brain. We previously reported microRNA-34a (miR-34a) among the most upregulated miRs in tubers. Read More

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Am J Hum Genet 2021 06 27;108(6):1138-1150. Epub 2021 Apr 27.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo heterozygous ANKRD17 variants. The mutational spectrum of this cohort of 34 individuals from 32 families is highly suggestive of haploinsufficiency as the underlying mechanism of disease, with 21 truncating or essential splice site variants, 9 missense variants, 1 in-frame insertion-deletion, and 1 microdeletion (1. Read More

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

Brain 2021 Jun;144(5):1435-1450

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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The contribution of non-drug factors to fetal malformation in anti-seizure-medication-treated pregnancy.

Epilepsy Behav 2021 05 11;118:107941. Epub 2021 Apr 11.

Royal Brisbane and Women's Hospital and School of Medicine and Biomedical Science, University of Queensland, Brisbane, Queensland 4027, Australia.

Purpose: To assess the possible contribution of factors in additional to intrauterine anti-seizure medication (ASM) exposure in the occurrence of fetal malformation in women with ASM-treated epilepsy.

Results: Logistic regression analysis showed that maternal age over 31 years, family histories of fetal malformation, and conception after assisted fertility treatment, and also dosage of valproate, carbamazepine, and topiramate, made statistically significant (P<0.05) contributions to the fetal malformation rate in 2223 pregnancies in Australian women with epilepsy. Read More

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Gender differences in geriatric syndromes as mental illness and nervous system diseases in hospitalized Thai older patients.

Psychogeriatrics 2021 Apr 13. Epub 2021 Apr 13.

Lecturer of Department of Food and Beverage Management, Jin-Wen University of Science and Technology, New Taipei City, Taiwan.

Background: Older persons are affected by mental and neurological disorders differently, and gender plays a significant role influencing geriatric disorder differentiation. Accordingly this study characterized gender differences in geriatric syndromes among hospitalized elderly Thai patients.

Methods: Probabilities of disease occurrence reflecting gender differences were calculated using historical data obtained from the Ministry of Public Health website, Thailand. Read More

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Proceedings of the Sleep and Epilepsy Workgroup: Section 2 Comorbidities: Sleep Related Comorbidities of Epilepsy.

Epilepsy Curr 2021 Apr 12:15357597211004549. Epub 2021 Apr 12.

Department of Neurology, University of Virginia School of Medicine, Charlottesville, VA, USA.

Epilepsy is a chronic disease with multiple, complex comorbidities. Bidirectional relationships exist among seizures, sleep, circadian rhythms, and diseases within and outside of the central nervous system. Seizures fragment sleep and can contribute to development of sleep disorders, which in turn leads to worse overall health and more seizures. Read More

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A description of novel variants and review of phenotypic spectrum in -related early epileptic encephalopathy.

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

Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.

Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in , a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with biallelic pathogenic variants in All five children presented with global developmental delay, epilepsy, axial hypotonia, appendicular hypertonia, and a movement disorder, including dystonia in four. Affected individuals in all four families have compound heterozygous pathogenic variants in All have the recurrent mild c. Read More

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Proceedings of the Sleep and Epilepsy Workshop: Section 1 Decreasing Seizures-Improving Sleep and Seizures, Themes for Future Research.

Epilepsy Curr 2021 03 31:15357597211004566. Epub 2021 Mar 31.

Department of Neurology and Iowa Neuroscience Institute, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

Epileptic seizures, sleep, and circadian timing share bilateral interactions, but concerted work to characterize these interactions and to leverage them to the advantage of patients with epilepsy remains in beginning stages. To further the field, a multidisciplinary group of sleep physicians, epileptologists, circadian timing experts, and others met to outline the state of the art, gaps of knowledge, and suggest ways forward in clinical, translational, and basic research. A multidisciplinary panel of experts discussed these interactions, centered on whether improvements in sleep or circadian rhythms improve decrease seizure frequency. Read More

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Proceedings of the Sleep and Epilepsy Workshop: Section 3 Mortality: Sleep, Night, and SUDEP.

Epilepsy Curr 2021 Mar 31:15357597211004556. Epub 2021 Mar 31.

Department of Neurology, 1861Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with refractory epilepsy. Likely pathophysiological mechanisms include seizure-induced cardiac and respiratory dysregulation. A frequently identified feature in SUDEP cases is that they occur at night. Read More

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Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.

Epilepsia 2021 May 29;62(5):1208-1219. Epub 2021 Mar 29.

Department of Development and Regeneration, Section Pediatric Neurology, Catholic University of Leuven (KU Leuven), Leuven, Belgium.

Objective: To study the association between timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED-EEG) and epilepsy and neurodevelopment at 24 months in infants with tuberous sclerosis complex (TSC).

Methods: Patients enrolled in the prospective Epileptogenesis in a genetic model of epilepsy - Tuberous sclerosis complex (EPISTOP) trial, had serial EEG monitoring until the age of 24 months. The timing and characteristics of the first ED-EEG were studied in relation to clinical outcome. Read More

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Microscale Physiological Events on the Human Cortical Surface.

Cereb Cortex 2021 Mar 22. Epub 2021 Mar 22.

Departments of Neurosciences and Radiology, University of California San Diego, La Jolla, CA 92093, USA.

Despite ongoing advances in our understanding of local single-cellular and network-level activity of neuronal populations in the human brain, extraordinarily little is known about their "intermediate" microscale local circuit dynamics. Here, we utilized ultra-high-density microelectrode arrays and a rare opportunity to perform intracranial recordings across multiple cortical areas in human participants to discover three distinct classes of cortical activity that are not locked to ongoing natural brain rhythmic activity. The first included fast waveforms similar to extracellular single-unit activity. Read More

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Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.

Brain 2021 Mar 17. Epub 2021 Mar 17.

Developmental Neurosciences, GOS Institute of Child Health, University College London, London, UK.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe cognitive and motor delay, with a complex movement disorder and high risk of premature mortality. For most, standard pharmacological treatment provides only limited clinical benefit. Read More

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Med 2021 Mar 17;13(1):40. Epub 2021 Mar 17.

Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology and Health, KTH Royal Institutet of Technology, Stockholm, Sweden.

Background: We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a long-term collaborative initiative between Karolinska University Hospital and Science for Life Laboratory to establish advanced, genomics-based diagnostics in the Stockholm healthcare setting.

Methods: Our analysis covers detection and interpretation of SNVs, INDELs, uniparental disomy, CNVs, balanced structural variants, and short tandem repeat expansions. Read More

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Mechanisms of Psychiatric Comorbidities in Epilepsy.

Jamie Maguire

Curr Top Behav Neurosci 2021 Mar 16. Epub 2021 Mar 16.

Neuroscience Department, Tufts University School of Medicine, Boston, MA, USA.

Psychiatric illnesses, including depression and anxiety, are highly comorbid with epilepsy (for review see Josephson and Jetté (Int Rev Psychiatry 29:409-424, 2017), Salpekar and Mula (Epilepsy Behav 98:293-297, 2019)). Psychiatric comorbidities negatively impact the quality of life of patients (Johnson et al., Epilepsia 45:544-550, 2004; Cramer et al. Read More

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Prenatal tobacco smoke exposure and neurological impairment at 10 years of age among children born extremely preterm: a prospective cohort.

BJOG 2021 Mar 7. Epub 2021 Mar 7.

Department of Pediatrics, University of North Carolina, Chapel Hill, NC, USA.

Objective: To determine the association between prenatal tobacco smoke exposure and neurological impairment at 10 years of age among children born extremely preterm (<28 weeks of gestation).

Design: The Extremely Low Gestational Age Newborn (ELGAN) Study, a prospective cohort.

Setting: Ten-year follow-up of extremely preterm infants born at 14 US hospitals between 2002 and 2004. Read More

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