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Sudden unexpected death in infancy

Anne Guimier, Christopher T Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschke, Christine Bole-Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G Laing, Béatrice Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc de Pontual, Jean-Paul di Rago, Agnès Delahodde, Jeanne Amiel
Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each family. PPA2 encodes the mitochondrial pyrophosphatase, which hydrolyzes inorganic pyrophosphate into two phosphates...
September 1, 2016: American Journal of Human Genetics
Joanna Garstang, Catherine Ellis, Frances Griffiths, Peter Sidebotham
BACKGROUND: A comprehensive child death review (CDR) program was introduced in England and Wales in 2008, but as yet data have only been analyzed at a local level, limiting the learning from deaths. The aim of this study is to describe the profile of causes and risk factors for sudden unexpected death in infancy (SUDI) as determined by the new CDR program. METHODS: This was a descriptive outcome study using data from child death overview panel Form C for SUDI cases dying during 2010-2012 in the West Midlands region of England...
August 9, 2016: Forensic Science, Medicine, and Pathology
Waney Squier, Julie Mack, Anna C Jansen
The cause of death in infants who die suddenly and unexpectedly (sudden unexpected death in infancy [SUDI]) remains a diagnostic challenge. Some infants have identified diseases (explained SUDI); those without explanation are called sudden infant death syndrome (SIDS). Demographic data indicate subgroups among SUDI and SIDS cases, such as unsafe sleeping and apparent life-threatening events. Infants dying suddenly with retinal and dural bleeding are often classified as abused, but in many there is no evidence of trauma...
July 20, 2016: Developmental Medicine and Child Neurology
Kylie Mason
AIM: To estimate the number of deaths and disability-adjusted life years (DALYs) attributable to secondhand smoke in New Zealand. METHOD: Comparative risk assessment methods were used to estimate the attributable burden from second-hand smoke in children and non-smoking adults in New Zealand. Disease outcomes included were: ischaemic heart disease; stroke and lung cancer in adults; asthma; lower respiratory infections; otitis media; sudden unexpected death in infancy (SUDI); and low birthweight at term in children...
2016: New Zealand Medical Journal
Joanna Garstang, Frances Griffiths, Peter Sidebotham
OBJECTIVES: Improvements in our understanding of the role of modifiable risk factors for sudden infant death syndrome (SIDS) mean that previous reassurance to parents that these deaths were unpreventable may no longer be appropriate. This study aimed to learn of bereaved parents' and healthcare professionals' experiences of understanding causes of death following detailed sudden unexpected death in infancy (SUDI) investigations. The research questions were: How do bereaved parents understand the cause of death and risk factors identified during detailed investigation following a sudden unexpected infant death? What is the association between bereaved parents' mental health and this understanding? What are healthcare professionals' experiences of sharing such information with families? DESIGN: This was a mixed-methods study using a Framework Approach...
2016: BMJ Open
J E F Wiedijk, V Soerdjbalie-Maikoe, G J R Maat, A Maes, R R van Rijn, H H de Boer
This paper describes an investigation of the sudden and unexpected death of a five-and-a-half-month-old boy. As in every Dutch case of sudden unexpected death in infancy (SUDI), a multidisciplinary diagnostic approach was used. This included post-mortem radiography, showing a linear discontinuity of the parietal bone. Originally this was interpreted as a skull fracture, but autopsy indicated no signs of mechanical trauma. Instead the defect was defined as a unilateral accessory suture of the parietal bone. The initial erroneous diagnosis had severe adverse consequences and thus every health care professional or forensic specialist dealing with paediatric mechanical traumas should be cautious of this rare anomaly...
March 2016: Forensic Science International
Andrew R Bamber, Liina Kiho, Sam Upton, Michael Orchard, Neil J Sebire
BACKGROUND: Risk factors for Sudden Unexpected Death in Infancy (SUDI) are well described, and such cases are now investigated according to standard protocols. In London, Project Indigo of the Metropolitan Police provides a unique, detailed framework for such data collection. We investigate such data to provide a contemporary account of SUDI in a large city and further link data to publically available datasets to investigate interactions with social factors. METHODS: Retrospective analysis of data routinely collected by the Metropolitan Police Service in all cases of non-suspicious SUDI deaths in London during a six year period...
2016: BMC Pediatrics
Aphinan Tangsermkijsakul
Fetal alcohol spectrum disorder is a range of birth defects associated with prenatal alcohol exposure. Fetal alcohol syndrome (FAS) is the most serious form of fetal alcohol spectrum disorder. Infants with FAS are prone to death because of various physical abnormalities. Consequently, infants with FAS may be presented in the medicolegal investigation as a form of sudden unexpected death in infancy. The author reported a 6-month-old male infant who was found dead at home. The history of maternal ethanol consumption during pregnancy was obtained...
March 2016: American Journal of Forensic Medicine and Pathology
Gulhan Yagmur, Nihan Ziyade, Neval Elgormus, Taner Das, M Feyzi Sahin, Muzaffer Yildirim, Ayse Ozgun, Arzu Akcay, Ferah Karayel, Sermet Koc
As an opportunistic pathogen with high mortality rates, Cytomegalovirus (CMV) may lead to fatal disseminated CMV infection of the premature and newborn; thus necessitating the demonstration of CMV-DNA with clinical history and/or histopathological findings of CMV infection and defining other bacterial and viral infection agents with real-time polymerase chain reaction (RT-PCR) in udden unexpected death in infancy (SUDI) cases as we aimed in this study. 314 (144 female, 170 male) SUDI cases were prospectively investigated from January 2013 to January 2015 in Istanbul Forensic Medicine Institution...
February 2016: Journal of Forensic and Legal Medicine
Lyndal Bugeja, Jeremy Dwyer, Sara-Jane McIntyre, Jeanine Young, Karen Lesley Stephan, Roderick John McClure
BACKGROUND: There is general agreement that in some circumstances, sharing a sleep surface of any kind with an infant increases the risk of sudden unexpected death in infancy. There is a paucity of research conducted in Australia examining this issue. This study examines the frequency and distribution of sleep-related infant deaths in a defined population, and reports the proportion that occurred in the context of bed-sharing. METHODS: A retrospective population-based case series study was conducted of infants (≤365 days) who died in a sleeping context during the period 1 January 2008 to 31 December 2010 in the state of Victoria, Australia...
May 2016: Maternal and Child Health Journal
Christin Loeth Hertz, Sofie Lindgren Christiansen, Maiken Kudahl Larsen, Morten Dahl, Laura Ferrero-Miliani, Peter Ejvin Weeke, Oluf Pedersen, Torben Hansen, Niels Grarup, Gyda Lolk Ottesen, Rune Frank-Hansen, Jytte Banner, Niels Morling
Sudden infant death syndrome (SIDS) is the most frequent manner of post-perinatal death among infants. One of the suggested causes of the syndrome is inherited cardiac diseases, mainly channelopathies, that can trigger arrhythmias and sudden death. The purpose of this study was to investigate cases of sudden unexpected death in infancy (SUDI) for potential causative variants in 100 cardiac-associated genes. We investigated 47 SUDI cases of which 38 had previously been screened for variants in RYR2, KCNQ1, KCNH2 and SCN5A...
June 2016: European Journal of Human Genetics: EJHG
Montserrat Santori, Alejandro Blanco-Verea, Rocio Gil, Judith Cortis, Katrin Becker, Peter M Schneider, Angel Carracedo, Maria Brion
OBJECTIVES: Sudden unexplained death in children is a tragic and traumatic event, often worsened when the cause of death cannot be determined. This work aimed to investigate the presence of putative pathogenic genetic variants in a broad spectrum of cardiomyopathy, channelopathy and aortic disease associated genes that may have increased these children's vulnerability to sudden cardiac death. DESIGN: We performed molecular autopsy of 41 cases of sudden unexplained death in infants and children through massive parallel sequencing of up to 86 sudden cardiac death-related genes...
October 2015: Archives of Disease in Childhood
J Naud
Most infant apparent life-threatening events (ALTEs) are minor with spontaneously favorable prognosis. Frequent etiologies are gastroesophageal reflux, obstructive apneas, respiratory infections, and breath-holding spells. Some rare but potentially serious causes must be discussed. Diagnosis is usually guided by careful questioning of the parents and repeated clinical examinations. A few complementary examinations are systematically needed and their performance is increased if they are oriented by clinical aspects...
September 2015: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
J Bergounioux, C Madre, A Crucis-Armengaud, E Briand-Huchet, A P Michard-Lenoir, H Patural, S Dauger, S Renolleau, A M Teychéne, S Henry, D Biarent, C Robin, E Werner, C Rambaud
UNLABELLED: Soft infant carriers such as slings have become extremely popular in the west and are usually considered safe. We report 19 cases of sudden unexpected death in infancy (SUDI) linked to infant carrier. Most patients were healthy full-term babies less than 3 months of age, and suffocation was the most frequent cause of death. CONCLUSION: Infant carriers represent an underestimated cause of death by suffocation in neonates. WHAT IS KNOWN: • Sudden unexpected deaths in infancy linked to infant carrier have been only sparsely reported...
December 2015: European Journal of Pediatrics
Monique Jonas
This article considers whether there is a parental obligation to comply with child health advice which is aimed at the general population and grounded in population-based research. Drawing upon the concept of role obligations, I argue that there is a temptation to use child health advice as a set of rules to which parents are morally obligated to comply, but that this temptation should be resisted. Using the case of Safe Sleep recommendations, designed to reduce the risk of sleep-related infant deaths, I present three reasons for doubting that parents are obligated, as a matter of course, to comply with child health advice...
February 2016: Bioethics
Barry J Taylor, Joanna Garstang, Adele Engelberts, Toshimasa Obonai, Aurore Cote, Jane Freemantle, Mechtild Vennemann, Matt Healey, Peter Sidebotham, Edwin A Mitchell, Rachel Y Moon
BACKGROUND: Comparing rates of sudden unexpected death in infancy (SUDI) in different countries and over time is difficult, as these deaths are certified differently in different countries, and, even within the same jurisdiction, changes in this death certification process have occurred over time. AIMS: To identify if International Classification of Diseases-10 (ICD-10) codes are being applied differently in different countries, and to develop a more robust tool for international comparison of these types of deaths...
November 2015: Archives of Disease in Childhood
Bradley T Thach
Sudden unexpected infant death (SUID) in infancy which includes Sudden Infant Death Syndrome (SIDS) is the commonest diagnosed cause of death in the United States for infants 1 month to 1 year of age. Central nervous system mechanisms likely contribute to many of these deaths. We discuss some of these including seizure disorders, prolonged breath holding, arousal from sleep and its habituation, laryngeal reflex apnea potentiated by upper airway infection, and failure of brainstem-mediated autoresuscitation...
July 1, 2015: Comprehensive Physiology
Rikke S Møller, Sarah E Heron, Line H G Larsen, Chiao Xin Lim, Michael G Ricos, Marta A Bayly, Marjan J A van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M Ronen, David Callen, Jacinta M McMahon, Simone C Yendle, Gemma L Carvill, Heather C Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G Baglietto, Federico Zara, Nicholas J Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans Atli Dahl, Pia Gellert, Ingrid E Scheffer, Boudewijn Gunning, Bente Kragh-Olsen, Leanne M Dibbens
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI...
September 2015: Epilepsia
Sally Abel, Ariana Stockdale-Frost, Rangihaanu Rolls, David Tipene-Leach
AIMS: The wahakura (flax bassinet) is presently being distributed as a safe infant sleeping device amongst New Zealand Māori, where sudden unexpected deaths in infancy (SUDI) rates are high. It is promoted as mitigating bedsharing risk by providing a separate infant sleeping surface. This study aimed to understand exactly what factors determine the apparent acceptability of the wahakura as an infant sleeping device to Māori mothers and other key Māori community stakeholders. METHODS: The qualitative study used face-to-face, semi-structured interviews, following Māori cultural protocols, to explore the experiences and views of 12 Māori mothers and 10 key informants who had wahakura experience...
May 1, 2015: New Zealand Medical Journal
Suzanne Pitama
No abstract text is available yet for this article.
May 1, 2015: New Zealand Medical Journal
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