Book contents
- Frontmatter
- Contents
- Dedication
- Acknowledgements
- Foreword
- 1 Sudden Infant Death Syndrome: Definitions
- 2 Sudden Infant Death Syndrome: An Overview
- 3 Sudden Unexplained Death in Childhood: An Overview
- 4 Sudden Infant Death Syndrome: History
- 5 Responding to Unexpected Child Deaths
- 6 The Role of Death Review Committees
- 7 Parental Perspectives
- 8 Parental Grief
- 9 Promoting Evidence-Based Public Health Recommendations to Support Reductions in Infant and Child Mortality: The Role of National Scientific Advisory Groups
- 10 Risk Factors and Theories
- 11 Shared Sleeping Surfaces and Dangerous Sleeping Environments
- 12 Preventive Strategies for Sudden Infant Death Syndrome
- 13 The Epidemiology of Sudden Infant Death Syndrome and Sudden Unexpected Infant Deaths: Diagnostic Shift and other Temporal Changes
- 14 Future Directions in Sudden Unexpected Death in Infancy Research
- 15 Observational Investigations from England: The CESDI and SWISS Studies
- 16 An Australian Perspective
- 17 A South African Perspective
- 18 A United Kingdom Perspective
- 19 A United States Perspective
- 20 A Scandinavian Perspective
- 21 Neonatal Monitoring: Prediction of Autonomic Regulation at 1 Month from Newborn Assessments
- 22 Autonomic Cardiorespiratory Physiology and Arousal of the Fetus and Infant
- 23 The Role of the Upper Airway in SIDS and Sudden Unexpected Infant Deaths and the Importance of External Airway-Protective Behaviors
- 24 The Autopsy and Pathology of Sudden Infant Death Syndrome
- 25 Natural Diseases Causing Sudden Death in Infancy and Early Childhood
- 26 Brainstem Neuropathology in Sudden Infant Death Syndrome
- 27 Sudden Infant Death Syndrome, Sleep, and the Physiology and Pathophysiology of the Respiratory Network
- 28 Neuropathology of Sudden Infant Death Syndrome: Hypothalamus
- 29 Abnormalities of the Hippocampus in Sudden and Unexpected Death in Early Life
- 30 Cytokines, Infection, and Immunity
- 31 The Genetics of Sudden Infant Death Syndrome
- 32 Biomarkers of Sudden Infant Death Syndrome (SIDS) Risk and SIDS Death
- 33 Animal Models: Illuminating the Pathogenesis of Sudden Infant Death Syndrome
31 - The Genetics of Sudden Infant Death Syndrome
Published online by Cambridge University Press: 20 July 2018
- Frontmatter
- Contents
- Dedication
- Acknowledgements
- Foreword
- 1 Sudden Infant Death Syndrome: Definitions
- 2 Sudden Infant Death Syndrome: An Overview
- 3 Sudden Unexplained Death in Childhood: An Overview
- 4 Sudden Infant Death Syndrome: History
- 5 Responding to Unexpected Child Deaths
- 6 The Role of Death Review Committees
- 7 Parental Perspectives
- 8 Parental Grief
- 9 Promoting Evidence-Based Public Health Recommendations to Support Reductions in Infant and Child Mortality: The Role of National Scientific Advisory Groups
- 10 Risk Factors and Theories
- 11 Shared Sleeping Surfaces and Dangerous Sleeping Environments
- 12 Preventive Strategies for Sudden Infant Death Syndrome
- 13 The Epidemiology of Sudden Infant Death Syndrome and Sudden Unexpected Infant Deaths: Diagnostic Shift and other Temporal Changes
- 14 Future Directions in Sudden Unexpected Death in Infancy Research
- 15 Observational Investigations from England: The CESDI and SWISS Studies
- 16 An Australian Perspective
- 17 A South African Perspective
- 18 A United Kingdom Perspective
- 19 A United States Perspective
- 20 A Scandinavian Perspective
- 21 Neonatal Monitoring: Prediction of Autonomic Regulation at 1 Month from Newborn Assessments
- 22 Autonomic Cardiorespiratory Physiology and Arousal of the Fetus and Infant
- 23 The Role of the Upper Airway in SIDS and Sudden Unexpected Infant Deaths and the Importance of External Airway-Protective Behaviors
- 24 The Autopsy and Pathology of Sudden Infant Death Syndrome
- 25 Natural Diseases Causing Sudden Death in Infancy and Early Childhood
- 26 Brainstem Neuropathology in Sudden Infant Death Syndrome
- 27 Sudden Infant Death Syndrome, Sleep, and the Physiology and Pathophysiology of the Respiratory Network
- 28 Neuropathology of Sudden Infant Death Syndrome: Hypothalamus
- 29 Abnormalities of the Hippocampus in Sudden and Unexpected Death in Early Life
- 30 Cytokines, Infection, and Immunity
- 31 The Genetics of Sudden Infant Death Syndrome
- 32 Biomarkers of Sudden Infant Death Syndrome (SIDS) Risk and SIDS Death
- 33 Animal Models: Illuminating the Pathogenesis of Sudden Infant Death Syndrome
Summary
Introduction
Despite a decrease in the mortality rates of sudden infant death syndrome (SIDS) over the past decades, SIDS is still one of the leading causes of post-neonatal and infant death. In the United States, 8% of all infant deaths are attributed to SIDS, only behind congenital malformations and chromosomal abnormalities (21%) and disorders relating to prematurity and low birth weight (17%) (1). While efforts have been made to reduce the role of environmental factors, such as sleep environment and smoking, this persistent mortality highlights the importance of intrinsic factors involved in SIDS, including genetic changes that predispose infants to, or are directly responsible for, SIDS (2, 3). In addition, the incidence of SIDS in families where one infant has died from SIDS is increased by over fivefold, providing further evidence of a role for genetic factors (4, 5).
A role for genetic factors in SIDS is consistent with the Triple Risk Model of SIDS, with genetic factors contributing to the “vulnerable infant”. The Triple Risk Model hypothesizes that three elements are present for SIDS to occur (6):
1. Critical developmental period: Mortality from SIDS clusters during certain ages. Developmental changes in autonomic control co-incide with periods of increased susceptibility to SIDS.
2. Vulnerable infant: Understood largely in terms of associated risk factors such as race or exposure to alcohol or tobacco during pregnancy; infants dying from SIDS have been shown to have differences in autonomic responses that impair their ability to respond to challenges in the sleep environment. In addition, genetic conditions, such as a cardiac channelopathy, a metabolic condition, or a seizure disorder, may cause the infant to be vulnerable and at greater risk of SIDS.
3. Exogenous stressor(s): Stressors associated with SIDS include overheating, secondhand tobacco smoke, upper respiratory tract infection, bed sharing, and prone sleeping position (6).
According to the Triple Risk Model, although most babies encounter and survive environmental stressors, a vulnerable infant who becomes challenged during a critical period may not be able to overcome the stressor, leading to SIDS. Thus, SIDS can be seen as representing a severe, lethal phenotype with genetic causes that contribute to the vulnerable infant. Genomic approaches to SIDS attempt to understand genetic mechanisms causing or contributing to this infant vulnerability.
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- SIDS Sudden Infant and Early Childhood DeathThe past, the present and the future, pp. 711 - 730Publisher: The University of Adelaide PressPrint publication year: 2018