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Advances in the genetic investigation of SIDS
S24
PATHOLOGY 2012 ABSTRACT SUPPLEMENT
POST-MORTEM LONG QT ANALYSIS OF SUDDEN INFANT DEATH SYNDROME Joanna Glengarry1, Jon Skinner2, Paul Morrow1 1Department of Forensic Pathology, LabPlus, Auckland City Hospital, Auckland, and 2Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand; on behalf of the Cardiac Inherited Disease Group New Zealand It is hypothesised that some cases of sudden unexplained infant death can be attributed to the long QT syndrome. This has been explored by a prospective, population-based molecular autopsy study conducted by the Cardiac Inherited Diseases Group, a New Zealand national multidisciplinary group. Over a 26 month period (2006–2008) DNA was stored from all cases of sudden unexpected infant death at the time of autopsy. Those cases in which the cause of death was unascertained (‘sudden infant death syndrome’) underwent genetic testing to look for the long QT syndrome. Positive cases triggered cardiac and genetic evaluation of first-degree relatives. In this talk, the results of this will be presented and the conclusions, with implications for autopsy practice will be discussed. EXHUMATIONS: AN OVERVIEW OF THE EXCAVATION AND RECOVERY OF BURIED EVIDENCE Soren Blau Victorian Institute of Forensic Medicine, Southbank, and Department of Forensic Medicine, Monash University, Vic, Australia In theory anyone can search for and recover buried evidence. Over the past decades, however, the benefits of utilising systematic and controlled field recovery techniques (based on well-established archaeological principles) at a number of small and large scale scenes of crime have been recognised.1–3 This short presentation provides an overview of the theory and practice of professional excavation and recovery of various types of buried evidence. The presentation highlights the ways in which the level of information required to address questions about identification and cause and manner of death can be augmented when exhumations are undertaken using controlled excavation techniques. References 1. Cheetham PN, Hanson I. Excavation and recovery in forensic archaeological investigations. In: Blau S, Ubelaker DH, editors. Handbook of Forensic Anthropology and Archaeology. California: Left Coast Press, 2009; 141–9. 2. Hunter J, Cox M. Forensic Archaeology: Advances in Theory and Practice. London: Routledge, 2005. 3. Spennemann DHR, Franke B. Archaeological techniques for exhumations: A unique data source for crime scene investigations. Forensic Sci Int 1995; 74: 5–15.
Pathology (2013), 45(S1)
must be unambiguous and there must be several points of concurrence between the deceased and ante-mortem records. The aim of this study is to investigate the usefulness of ante-mortem fractures as identifiers when the traditional methods are not available. An overview of a number of cases admitted to the Western Australian State Mortuary, where the identification process is problematic, will be presented. The number of ante-mortem fractures present in a random sample of deceased and their uniqueness will be examined. A case study involving a combined pathology and anthropology examination will be used to illustrate the usefulness and acceptability, at the Coronial level, of ante-mortem fractures as identifiers. WHEN THINGS GO AWRY Noel Woodford Victorian Institute of Forensic Medicine, Southbank, Vic, Australia This presentation will provide a pathologist’s perspective on some of the challenges and pitfalls associated with use of radiological imaging in forensic pathology including diagnostic difficulties, artefacts, and technical issues. AUTOPSY FOLLOWING SUDDEN UNEXPECTED INFANT DEATH: WHAT CONSTITUTES A FULL AUTOPSY IN 2013? Duncan MacGregor Department of Anatomical Pathology, Royal Children’s Hospital, Melbourne, Australia Many attempts to define sudden infant death syndrome have included phrases such as ‘full autopsy’ and ‘ancillary investigations’ without specifying what constitutes full autopsy, or which of the thousands of potential ancillary studies are necessary and appropriate to reach a conclusion of SIDS or unascertained cause of death. Some recent publications1 have commented on the evidence base for common practices and commonly performed investigations, but there remains considerable variation between different centres. The presentation will cover the rationale and evidence base for several major ancillary investigations, and for some less technical components of the autopsy process that may enhance the quality of investigation of sudden unexpected death in infancy. Reference 1. Weber MA, Sebire NJ. Postmortem investigation of sudden unexpected death in infancy: current issues and autopsy protocol. Diagn Histopathol 2009; 15: 510–23.
ADVANCES IN THE GENETIC INVESTIGATION OF SIDS
Alanah Buck, Daniel Moss Department of Forensic Pathology, PathWest, QEII Medical Centre, Perth, WA, Australia
John Christodoulou Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney, and Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, Sydney, NSW, Australia
Identification of the deceased is an important feature of any death investigation. Generally, the main types of identification confirmation that are acceptable to the Courts are visual, dental, DNA and fingerprints. On occasion, these traditional identifiers are not available due to the condition of the body or lack of ante-mortem records, and other forms of acceptable identification must be sought. To be acceptable as a form of positive identification the feature in question
With the recognition through epidemiological studies that the prone sleeping position is a major cause of SIDS, simple measures have led to a significant reduction in its incidence. However, SIDS is still a major cause of infant mortality in the Western world, and in most cases detailed post-mortem examination fails to shed light on a possible aetiology. It is being increasingly recognised that apparent SIDS may be the consequence of a primary underlying
FRACTURES AS IDENTIFIERS
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
ABSTRACTS
genetic disorder, including inborn errors of metabolism (most especially fatty acid oxidation disorders), genetic defects of cardiac conduction (particularly a range of channelopathies), and hypertrophic cardiomyopathies. In addition, polymorphisms in a number of genes have been implicated in the pathogenesis and incidence of SIDS, although the magnitude of their importance remains to be established. A synopsis of the well-established genetic causes of SIDS will be given in this presentation, along with a brief overview of association studies implicating specific genetic polymorphisms with SIDS. Together, these data raise the question of whether it is timely to consider a ‘molecular post-mortem’ for SIDS cases where an underlying aetiology remains unknown.
S25
The most useful terms to guide the coroner in further investigation of the death are the various categories of SIDS described in the San Diego definitions, as they capture the circumstances and factors surrounding the death. They are preferable to ‘sudden unexpected death of an infant’ (SUDI) or ‘unascertained’. The term ‘SUDI’, while a potentially useful umbrella term to categorise all infant death, is of little value to coroners as a cause of death as it does not allow for the most basic distinction between the death resulting from natural, external or unexplained causes. The term ‘unascertained’ should be reserved for circumstances where the cause and manner of death remains undetermined after autopsy (i.e., no conclusive evidence of natural or external causes) and the circumstances of the death do not meet the various categories of SIDS.
THE ROLE OF CAUSE OF DEATH IN THE CORONERS’ INVESTIGATION OF SUDDEN INFANT DEATH SYNDROME
INFANT DEATHS, COSLEEPING...WHAT DO WE CALL THEM?
Coroner John Olle Coroners Court of Victoria, Vic, Australia
Yeliena Baber Victorian Institute of Forensic Medicine, Southbank, Vic, Australia
The coroner has a legislated mandate to investigate the cause and circumstances of all sudden and unexpected deaths, including infants. This mandate extends to the consideration of public health and safety. To fulfil these obligations, coroners rely on cause of death to guide the need for and nature of further investigation into the circumstances and future prevention of these deaths.
Much controversy still exists around the most appropriate documentation of these cases. Whilst the term SIDS, as described in the San Diego definition, is widely accepted and has its uses in terms of audit, research and a ‘diagnosis’ for the bereaved families, it essentially means that the cause of death remains unascertained. Where does the investigating pathologist stand and what are his/ her obligations in terms of the coronial investigation?
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
PATHOLOGY 2012 ABSTRACT SUPPLEMENT
POST-MORTEM LONG QT ANALYSIS OF SUDDEN INFANT DEATH SYNDROME Joanna Glengarry1, Jon Skinner2, Paul Morrow1 1Department of Forensic Pathology, LabPlus, Auckland City Hospital, Auckland, and 2Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand; on behalf of the Cardiac Inherited Disease Group New Zealand It is hypothesised that some cases of sudden unexplained infant death can be attributed to the long QT syndrome. This has been explored by a prospective, population-based molecular autopsy study conducted by the Cardiac Inherited Diseases Group, a New Zealand national multidisciplinary group. Over a 26 month period (2006–2008) DNA was stored from all cases of sudden unexpected infant death at the time of autopsy. Those cases in which the cause of death was unascertained (‘sudden infant death syndrome’) underwent genetic testing to look for the long QT syndrome. Positive cases triggered cardiac and genetic evaluation of first-degree relatives. In this talk, the results of this will be presented and the conclusions, with implications for autopsy practice will be discussed. EXHUMATIONS: AN OVERVIEW OF THE EXCAVATION AND RECOVERY OF BURIED EVIDENCE Soren Blau Victorian Institute of Forensic Medicine, Southbank, and Department of Forensic Medicine, Monash University, Vic, Australia In theory anyone can search for and recover buried evidence. Over the past decades, however, the benefits of utilising systematic and controlled field recovery techniques (based on well-established archaeological principles) at a number of small and large scale scenes of crime have been recognised.1–3 This short presentation provides an overview of the theory and practice of professional excavation and recovery of various types of buried evidence. The presentation highlights the ways in which the level of information required to address questions about identification and cause and manner of death can be augmented when exhumations are undertaken using controlled excavation techniques. References 1. Cheetham PN, Hanson I. Excavation and recovery in forensic archaeological investigations. In: Blau S, Ubelaker DH, editors. Handbook of Forensic Anthropology and Archaeology. California: Left Coast Press, 2009; 141–9. 2. Hunter J, Cox M. Forensic Archaeology: Advances in Theory and Practice. London: Routledge, 2005. 3. Spennemann DHR, Franke B. Archaeological techniques for exhumations: A unique data source for crime scene investigations. Forensic Sci Int 1995; 74: 5–15.
Pathology (2013), 45(S1)
must be unambiguous and there must be several points of concurrence between the deceased and ante-mortem records. The aim of this study is to investigate the usefulness of ante-mortem fractures as identifiers when the traditional methods are not available. An overview of a number of cases admitted to the Western Australian State Mortuary, where the identification process is problematic, will be presented. The number of ante-mortem fractures present in a random sample of deceased and their uniqueness will be examined. A case study involving a combined pathology and anthropology examination will be used to illustrate the usefulness and acceptability, at the Coronial level, of ante-mortem fractures as identifiers. WHEN THINGS GO AWRY Noel Woodford Victorian Institute of Forensic Medicine, Southbank, Vic, Australia This presentation will provide a pathologist’s perspective on some of the challenges and pitfalls associated with use of radiological imaging in forensic pathology including diagnostic difficulties, artefacts, and technical issues. AUTOPSY FOLLOWING SUDDEN UNEXPECTED INFANT DEATH: WHAT CONSTITUTES A FULL AUTOPSY IN 2013? Duncan MacGregor Department of Anatomical Pathology, Royal Children’s Hospital, Melbourne, Australia Many attempts to define sudden infant death syndrome have included phrases such as ‘full autopsy’ and ‘ancillary investigations’ without specifying what constitutes full autopsy, or which of the thousands of potential ancillary studies are necessary and appropriate to reach a conclusion of SIDS or unascertained cause of death. Some recent publications1 have commented on the evidence base for common practices and commonly performed investigations, but there remains considerable variation between different centres. The presentation will cover the rationale and evidence base for several major ancillary investigations, and for some less technical components of the autopsy process that may enhance the quality of investigation of sudden unexpected death in infancy. Reference 1. Weber MA, Sebire NJ. Postmortem investigation of sudden unexpected death in infancy: current issues and autopsy protocol. Diagn Histopathol 2009; 15: 510–23.
ADVANCES IN THE GENETIC INVESTIGATION OF SIDS
Alanah Buck, Daniel Moss Department of Forensic Pathology, PathWest, QEII Medical Centre, Perth, WA, Australia
John Christodoulou Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney, and Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, Sydney, NSW, Australia
Identification of the deceased is an important feature of any death investigation. Generally, the main types of identification confirmation that are acceptable to the Courts are visual, dental, DNA and fingerprints. On occasion, these traditional identifiers are not available due to the condition of the body or lack of ante-mortem records, and other forms of acceptable identification must be sought. To be acceptable as a form of positive identification the feature in question
With the recognition through epidemiological studies that the prone sleeping position is a major cause of SIDS, simple measures have led to a significant reduction in its incidence. However, SIDS is still a major cause of infant mortality in the Western world, and in most cases detailed post-mortem examination fails to shed light on a possible aetiology. It is being increasingly recognised that apparent SIDS may be the consequence of a primary underlying
FRACTURES AS IDENTIFIERS
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
ABSTRACTS
genetic disorder, including inborn errors of metabolism (most especially fatty acid oxidation disorders), genetic defects of cardiac conduction (particularly a range of channelopathies), and hypertrophic cardiomyopathies. In addition, polymorphisms in a number of genes have been implicated in the pathogenesis and incidence of SIDS, although the magnitude of their importance remains to be established. A synopsis of the well-established genetic causes of SIDS will be given in this presentation, along with a brief overview of association studies implicating specific genetic polymorphisms with SIDS. Together, these data raise the question of whether it is timely to consider a ‘molecular post-mortem’ for SIDS cases where an underlying aetiology remains unknown.
S25
The most useful terms to guide the coroner in further investigation of the death are the various categories of SIDS described in the San Diego definitions, as they capture the circumstances and factors surrounding the death. They are preferable to ‘sudden unexpected death of an infant’ (SUDI) or ‘unascertained’. The term ‘SUDI’, while a potentially useful umbrella term to categorise all infant death, is of little value to coroners as a cause of death as it does not allow for the most basic distinction between the death resulting from natural, external or unexplained causes. The term ‘unascertained’ should be reserved for circumstances where the cause and manner of death remains undetermined after autopsy (i.e., no conclusive evidence of natural or external causes) and the circumstances of the death do not meet the various categories of SIDS.
THE ROLE OF CAUSE OF DEATH IN THE CORONERS’ INVESTIGATION OF SUDDEN INFANT DEATH SYNDROME
INFANT DEATHS, COSLEEPING...WHAT DO WE CALL THEM?
Coroner John Olle Coroners Court of Victoria, Vic, Australia
Yeliena Baber Victorian Institute of Forensic Medicine, Southbank, Vic, Australia
The coroner has a legislated mandate to investigate the cause and circumstances of all sudden and unexpected deaths, including infants. This mandate extends to the consideration of public health and safety. To fulfil these obligations, coroners rely on cause of death to guide the need for and nature of further investigation into the circumstances and future prevention of these deaths.
Much controversy still exists around the most appropriate documentation of these cases. Whilst the term SIDS, as described in the San Diego definition, is widely accepted and has its uses in terms of audit, research and a ‘diagnosis’ for the bereaved families, it essentially means that the cause of death remains unascertained. Where does the investigating pathologist stand and what are his/ her obligations in terms of the coronial investigation?
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.