scholarly journals P.057 Solely neonatal hypoxic ischemic encephalopathy or more? A study examining genetic predisposition towards a clinical picture of HIE

2019 ◽  
Vol 46 (s1) ◽  
pp. S29
Author(s):  
KE Woodward ◽  
P Murthy ◽  
A Mineyko ◽  
K Mohammad ◽  
M Esser
Keyword(s):  
Risk Factors ◽  
Genetic Testing ◽  
Significant Risk ◽  
Hypoxic Ischemic Encephalopathy ◽  
Whole Exome ◽  
Clinical Phenomenon ◽  
Preliminary Study ◽  
Or Gene ◽  
Gene Panels ◽  
Ischemic Encephalopathy

Background: Neonatal hypoxic ischemic encephalopathy (HIE) is a clinical phenomenon, that often results from pre or perinatal reduced cerebral blood flow and/or hypoxemia. However, in some cases, neonates present with HIE without significant risk factors or have an unusual clinical course. With the advent of advanced genetic testing, we aimed to explore if such infants had genetic risk factors predisposing them to an HIE-phenotype. Methods: We reviewed 206 charts of infants meeting local protocol criteria for moderate to severe HIE at Level III NICU’s in Calgary, Alberta. Of these, 27 patients had genetic testing such as microarray, whole exome sequencing, or gene panels. Results: Six/twenty-seven patients had genetic mutations; two CDKL5 mutations (protein kinase), one CFTR mutation (cystic fibrosis), one PDH deficiency, one CYP21A2 mutation (congenital adrenal hyperplasia), and one ISY1 (VUS; pre-mRNA splicing). Two patients had noted difficult deliveries and four had minor complications, but all were out of keeping with the severity of presumed HIE. Conclusions: This preliminary study demonstrates a possible association between genetic co-morbidities and predisposition towards HIE in the context of a relatively uneventful pre/perinatal course. Earlier identification of genetic etiology, recognized by a discrepancy between risk factors and clinical presentation, could aid in treatment decisions and outcome prognostication.

scholarly journals Impact of Thrombophilia on the Risk of Hypoxic–Ischemic Encephalopathy in Term Neonates

2016 ◽  
Vol 23 (3) ◽  
pp. 266-273 ◽  
Author(s):  
Nafisa H. R. AbdelAziz ◽  
Hanan G. AbdelAzeem ◽  
Eman M. M. Monazea ◽  
Tahra Sherif
Keyword(s):  
Risk Factors ◽  
Protein C ◽  
Significant Risk ◽  
Hypoxic Ischemic Encephalopathy ◽  
Factor V ◽  
Parental Consanguinity ◽  
Emergency Cesarean ◽  
Significant Difference ◽  
Factor V G1691a ◽  
Ischemic Encephalopathy

Background: The incidence of neonatal hypoxic–ischemic encephalopathy (HIE) is reportedly high in countries with limited resources. Its pathogenesis is multifactorial. A role for thrombophilia has been described in different patterns of preterm and full-term perinatal brain injury. Aim: This study aims to identify risk factors associated with neonatal HIE and also to determine the contributions of genetic thrombophilia in the development of neonatal HIE. Methods: Sixty-seven neonates with HIE and 67 controls were enrolled in the study. Clinical history and examination were undertaken. Patients and controls were tested for the presence of factor V G1691A and prothrombin G20210A mutations. In addition, protein S, protein C, and antithrombin III levels were assessed. Results: Parental consanguinity and performing emergency cesarean section (CS) were significant risk factors for neonatal HIE (odds ratio [OR] 6.5, 95% confidence interval [CI] 2.6-15.3, P < .001, OR 12.6, 95% CI 2.52-63.3, P = .002, respectively). No significant difference was found regarding maternal age and parity. About 33% of cases and 6% of controls were found to have at least 1 thrombophilic factor ( P < .001). Factor V G1691A mutation significantly increased the risk of neonatal HIE (OR 4.5, 95% CI 1.4-14.5, P = .012), while prothrombin G 20210A mutation and protein C deficiency were not. Conclusion: Parental consanguinity, emergency CS, and factor V mutation may contribute to the higher risk of developing neonatal HIE.

scholarly journals Risk factors and the occurrence of cerebral palsy in high risk infants

2018 ◽  
Vol 58 (2) ◽  
pp. 95-100
Author(s):  
Setyo Handryastuti ◽  
Sofyan Ismael ◽  
Sudigdo Sastroasmoro ◽  
Asril Aminulah ◽  
Ferial Hadipoetro Idris ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cerebral Palsy ◽  
High Risk ◽  
Survival Rates ◽  
Significant Risk ◽  
Hypoxic Ischemic Encephalopathy ◽  
First Year ◽  
Factors Associated ◽  
Cerebral Ultrasound ◽  
Ischemic Encephalopathy

Background The incidence of cerebral palsy (CP) has increased due to better survival rates of high-risk babies. Early detection and time to the occurrence of CP in the first year of life is important in order to provide early intervention.Objectives To determine the proportion of CP in high-risk babies, the time to the occurrence of CP in the first year, and assess possible associations between risk factors of CP and time to the occurrence of CP.Methods A prospective cohort study was done on 150 high-risk babies up to the age of 12 months. We obtained history of motor ability and assessed primitive reflexes and postural reactions of subjects at the ages of 4 and 6 months. The diagnosis of CP was established at 6 and 12 months of age.Results The proportion of CP was 26% at 6 months and 24% at 12 months of age. Significant risk factors associated with CP at 6 and 12 months of age were cerebral ultrasound abnormalities, hypoxic-ischemic encephalopathy, and intracranial hemorrhage. In 88.7% of subjects with CP, CP was detected in the first 6 months. Mean age at the occurrence of CP was 9.99 months (95%CI 9.46 to 10.53). Risk factors that significantly affected the time to the occurrence of CP by survival analysis were ultrasound abnormalities and hypoxic-ischemic encephalopathy.Conclusions Cerebral palsy can be detected as early as the first 6 months of life. Cerebral ultrasound abnormalities and hypoxic ischemic encephalopathy are the risk factors associated with CP.

scholarly journals Hypoxic ischemic encephalopathy: Do peripartum risk factors account for observed changes in incidence?

2022 ◽  
Vol 226 (1) ◽  
pp. S210
Author(s):  
Kathleen C. Minor ◽  
Jessica Liu ◽  
Yasser Y. El-Sayed ◽  
Maurice L. Druzin ◽  
Jochen Profit ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hypoxic Ischemic Encephalopathy ◽  
Ischemic Encephalopathy

Antenatal and Intrapartum Risk Factors for Hypoxic-Ischemic Encephalopathy in a US Birth Cohort

2018 ◽  
Vol 203 ◽  
pp. 163-169 ◽  
Author(s):  
Sarah-Jane Parker ◽  
Michael Kuzniewicz ◽  
Hamid Niki ◽  
Yvonne W. Wu
Keyword(s):  
Risk Factors ◽  
Birth Cohort ◽  
Hypoxic Ischemic Encephalopathy ◽  
Ischemic Encephalopathy

Prevalence and Characteristics of Intracranial Hemorrhages in Neonates with Hypoxic Ischemic Encephalopathy

2017 ◽  
Vol 35 (07) ◽  
pp. 676-681 ◽  
Author(s):  
Rani Bashir ◽  
Sakeer Vayalthrikkovil ◽  
Liza Espinoza ◽  
Leigh Irvine ◽  
James Scott ◽  
...  
Keyword(s):  
Risk Factors ◽  
Brain Mri ◽  
Mode Of Delivery ◽  
Hypoxic Ischemic Encephalopathy ◽  
Severe Thrombocytopenia ◽  
Intracranial Hemorrhages ◽  
Increase Risk ◽  
Magnetic Resonance Imaging Mri ◽  
The Impact ◽  
Ischemic Encephalopathy

Introduction The risk factors of intracranial hemorrhages (ICH) in the context of neonatal hypoxic ischemic encephalopathy (HIE) and related interventions are unclear. Objective This article examines the prevalence and risk factors associated with ICH in neonates with HIE. Study Design This is a retrospective cohort study of neonates with HIE in Southern Alberta. ICH (subdural [SDH], subarachnoid [SAH], intraventricular [IVH], intraparenchymal [IPH]) were diagnosed by magnetic resonance imaging (MRI). Perinatal and neonatal characteristics were examined. Relation of hemorrhages with hypoxic changes on MRI and HIE stages were assessed. Results Number of HIE patients, n = 157; brain MRI was done in 138 infants; median gestation, 40 weeks; and cooled = 103 (66%). Prevalence of SDH, IPH, IVH, and SAH were 47, 22, 11, and 10 (34.1%, 15.9%, 7.8%, 7.2%), respectively. There was no significant increase in hemorrhage with mode of delivery, seizures, hypo/hypercarbia, severe thrombocytopenia, or deranged coagulation. All hemorrhages increased with higher HIE stage, regardless of the HIE severity in MRI. Adjusting for HIE staging, cooling, and gestation, IPH was observed more in infants who received inotropes (odds ratio [OR], 3.32; 95% confidence interval [CI], 1.20, 9.20). Conclusion SDH followed by IPH were the most common ICH. Thrombocytopenia and deranged coagulation did not increase risk of hemorrhages in HIE. Our study was not powered to determine the impact of inotrope use on the risk of IPH.

scholarly journals Outcomes of Infants with Mild Hypoxic Ischemic Encephalopathy Who Did Not Receive Therapeutic Hypothermia

2019 ◽  
Vol 4 (3) ◽  
pp. 1-9 ◽  
Author(s):  
Jonathan Reiss ◽  
Mridu Sinha ◽  
Jeffrey Gold ◽  
Julie Bykowski ◽  
Shelley M. Lawrence
Keyword(s):  
Therapeutic Hypothermia ◽  
Severe Disease ◽  
Significant Risk ◽  
Brain Magnetic Resonance Imaging ◽  
Adverse Outcomes ◽  
Hypoxic Ischemic Encephalopathy ◽  
Neurodevelopmental Outcomes ◽  
Specific Patient ◽  
Increased Risk ◽  
Ischemic Encephalopathy

Introduction: Accurately diagnosing and treating infants with mild forms of hypoxic ischemic encephalopathy (HIE) is important, as the majority of neonates with signs and symptoms of HIE after birth do not meet clinical criteria for moderate or severe disease. Emerging evidence, however, suggests that infants with mild HIE (mHIE) have an increased risk for neurodevelopmental impairment (NDI). Methods: This retrospective descriptive study examined all inborn infants ≥35 week’s gestational age at a single, level III neonatal intensive care unit (NICU) in California between January 1, 2012, and December 31, 2015. International Classification of Diseases codes were used as a proxy to identify neonates with mHIE but who did not receive therapeutic hypothermia (TH). Short- and long-term neurodevelopmental outcomes were documented, including abnormal (1) brain magnetic resonance imaging within 10 days of birth suggestive of HIE, (2) electroencephalogram with electrographic seizures, (3) neurologic discharge examination, or (4) NDI following NICU discharge. Results: Over the 4-year study period, 25 infants met inclusion criteria. Eight of 25 (32%) infants demonstrated neurologic impairment, defined by an abnormality in at least one of the four categories. The remaining 17 infants were without documented evidence for adverse outcomes. Conclusion: Our results indicate that children with mHIE are at significant risk for neurologic injury and may benefit from more aggressive interventions. Further prospective studies should be completed to determine the efficacy of TH in this specific patient population.

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