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Aim Methods Results Conclusion To clarify the possible role of accidental asphyxiation/suffocation for infants in shared sleeping situations.As it has recently been shown that there is an association between maternal obesity and sudden unexpected infant death (SUID) an index was calculated by dividing parental body mass index (BMI) by the shared sleeping surface area.A much higher index was derived for an obese individual on a narrow sleeping area such as a sofa (50) compared to a thin adult on a queen‐sized mattress (5).The index may be a way of semi‐quantitating high, and low, risk shared sleeping situations. [ABSTRACT FROM AUTHOR]

In living children, the use of a wide field fundus camera such as RetCam is the gold standard practice to document retinal haemorrhages in suspected cases of abusive head trauma (AHT). In case of sudden unexpected death in infancy (SUDI), child abuse must be considered as a possible cause of death and an eye examination is required. However, no example of post-mortem fundus photograph (PMFP) of retinal haemorrhages related to AHT is yet available for clinicians. We report a SUDI case, with no external traumatic lesions or limb fractures, for which prompt PMFP showed retinal haemorrhages typical of AHT: child abuse was subsequently confirmed by the forensic investigation. We discuss why PMFP is a relevant screening test to detect retinal haemorrhages in the case of SUDI and why the use of the RetCam should be further investigated. [ABSTRACT FROM AUTHOR]

Rates of sudden unexpected death in infancy have been found to occur disproportionately amongst families living in the most deprived neighbourhoods. This suggests that standard safer sleep messaging may not be effective for this population and that research is required to identify ways of working that are better associated with behavioural change in parents with children at increased risk of SUDI. In this study, we aimed to explore the behavioural change components and mechanisms of action of safer sleep interventions for families with children at increased risk of SUDI. We conducted an analysis of the literature on safer sleep interventions using the COM‐B model, Theoretical Domains Framework and Behavioural Change Technique Taxonomy. All interventions targeted parents' capability; 15 interventions targeted parents' opportunity; and six interventions targeted parents' motivation to engage in safer sleep practices. Nineteen behavioural change techniques were identified. The focus of practitioners may need to shift from solely the delivery of safer sleep information towards working with parents to understand their capability, opportunity and, in particular, motivation to engage in safer sleep practices, identified as being a key driver of behaviour in this population. [ABSTRACT FROM AUTHOR]

Abstract Sudden and unexpected death in infancy (SUDI) may be triggered by an external risk or exposure. Intestinal infections with enteric viruses may disrupt the gut and enhance bacterial toxins present in SUDI cases. While diarrhoeal disease deaths have decreased worldwide, approximately half a million deaths still occur in children in Sub- Saharan Africa and South Asia. Furthermore, the role of viral enteropathogens in SUDI cases have not been investigated. The aim of this study was to describe specific viral pathogens in stool samples collected from SUDI cases and age-matched, apparently healthy infants in Cape Town, South Africa. Stool samples were collected from 176 SUDI cases between June 2017 and May 2018. In addition, stool samples were collected from the nappies of 30 age-matched, apparently healthy infants as a control group. Real-time polymerase chain reaction was performed on the stool samples for viral detection. A total of 111 SUDI cases were positive for viruses, with rotavirus (38.6%; 68/176) and norovirus GI and GII (30.0%; 53/176) were prevalent in SUDI cases. Adenovirus Type F was present in only 15.9% (28/176), astrovirus in 9.7% (17/176), and sapovirus in 0.6% (1/176) of cases. In the control samples, norovirus GII was detected most frequently (36.7%; 11/30), followed by rotavirus (33.3%; 10/30), and sapovirus in 6.7% (2/30). While there was no significant association between SUDI cases and enteric viruses, the majority of viruses were significantly associated with the seasons. The study confirms the importance of rotavirus vaccination and describes the significance of norovirus infection in children, post rotavirus vaccine introduction.

Sudden and unexpected death in infancy (SUDI) may be triggered by an external risk or exposure. Intestinal infections with enteric viruses may disrupt the gut and enhance bacterial toxins present in SUDI cases. While diarrhoeal disease deaths have decreased worldwide, approximately half a million deaths still occur in children in Sub- Saharan Africa and South Asia. Furthermore, the role of viral enteropathogens in SUDI cases have not been investigated. The aim of this study was to describe specific viral pathogens in stool samples collected from SUDI cases and age-matched, apparently healthy infants in Cape Town, South Africa. Stool samples were collected from 176 SUDI cases between June 2017 and May 2018. In addition, stool samples were collected from the nappies of 30 age-matched, apparently healthy infants as a control group. Real-time polymerase chain reaction was performed on the stool samples for viral detection. A total of 111 SUDI cases were positive for viruses, with rotavirus (38.6%; 68/176) and norovirus GI and GII (30.0%; 53/176) were prevalent in SUDI cases. Adenovirus Type F was present in only 15.9% (28/176), astrovirus in 9.7% (17/176), and sapovirus in 0.6% (1/176) of cases. In the control samples, norovirus GII was detected most frequently (36.7%; 11/30), followed by rotavirus (33.3%; 10/30), and sapovirus in 6.7% (2/30). While there was no significant association between SUDI cases and enteric viruses, the majority of viruses were significantly associated with the seasons. The study confirms the importance of rotavirus vaccination and describes the significance of norovirus infection in children, post rotavirus vaccine introduction. [ABSTRACT FROM AUTHOR]

Infection is an important cause of death during infancy worldwide and is a frequent etiology of sudden unexpected death in infancy (SUDI). Procalcitonin (PCT) is a useful marker to diagnose infection in patients, and several studies report the stability of PCT after death. The added value of a biological marker, such as the PCT level in the blood, remains controversial in investigating SUDI. The aim of this study was to determine if PCT can help clinicians determine whether infection caused SUDI. We conducted a retrospective, multicenter study with the French SUDI registry (Observatoire National des Morts Inattendues du Nourrisson; OMIN). We collected data from this registry on children who died between May 2015 and June 2021. The levels of PCT in the blood of 540 SUDI patients were measured. We compared PCT and other biological tests performed in terms of infection status, autopsy results, and cause of death using clinical and biological data compiled by pediatricians at the SUDI referral center. PCT levels were significantly higher in the children who died from infection than in those who did not (0.12 µg/L vs. 0.08 µg/L, p < 0.001). A PCT blood level exceeding 0.2 µg/L was more frequently observed when infection was present than in the absence of infection (44.3% vs. 15.4%, p < 0.001). The same data were obtained with a 0.5 µg/L cut-off (36.1% with infection vs. 9.2% without, p < 0.001). Conclusions: PCT is a sensitive biomarker for detecting infections postmortem; thus, additional samples may be necessary during autopsy. What is known: • PCT is a stable marker postmortem and increases earlier than CRP, i.e., 2–4 h after the beginning of an infection vs. 6 h. • PCT can be measured up to 140 h after death. What is new: • PCT is a sensitive marker for detecting infection in SUDI patients postmortem. • This test can reveal an infection from non-standardized samples obtained during autopsy if such an infection was not determined before death. [ABSTRACT FROM AUTHOR]

Introduction: In the case of sudden unexpected death in infancy (SUDI), eye examination is systematic to detect retinal hemorrhages (RH) that are a crucial hallmark for abusive head trauma (AHT). The aim of this study is to assess the ability of non-invasive post-mortem fundus photographs (PMFP) to detect RH in case of SUDI. Methods: Bicentric retrospective analysis of consecutive cases of SUDI under 2 years of age were managed by two French SUDI referral centers with PMFP by RetCam (Clarity Medical Systems USA). PMFP were reviewed randomly, twice, by three independent ophthalmologists blinded for clinical data. Results: Thirty cases (60 eyes) were included. Median age was 3.5 months (interquartile [1.6; 6.0]). No child died of AHT. Image quality was sufficient to assert presence or absence of RH in 50 eyes (83%). Sufficient quality rate was significantly higher when the post-mortem interval was inferior to 18 h (91%, 42/46) as opposed to over 18 h (57%, 8/14, p=0.0096). RH were found in six eyes (10%), four children (13%), with excellent inter and intra-raters' concordance (Cohen's Kappa from 0.81 [0.56–1.00] to 1.00 [1.00–1.00]). Conclusion: PMFP can detect RH in case of SUDI and is a relevant systematic screening test to be carried out as soon as the deceased child arrives in the hospital. It can decrease the need of eye removal for pathological examination, but further studies are needed to define the best decision algorithm. [ABSTRACT FROM AUTHOR]

Aim: To estimate the relative risk of sudden unexpected death in infancy (SUDI) by district health board (DHB) in New Zealand after adjustment for socio‐economic deprivation, ethnicity and other demographic factors. Methods: We conducted a population‐based cohort study using data from the Integrated Data Infrastructure, a large research database containing linked data from a range of government agencies. The study population was all live births and their mothers in New Zealand from 2012 to 2018. The exposure of interest was DHB. The outcome was SUDI. Results: There were 418 068 live births in New Zealand from 2012 to 2018, and of these 415 401 (99.4%) had valid DHB data. There was considerable variation in the proportion of infants in each DHB living in the most deprived decile varying from 4.5% in Nelson, West Coast and Canterbury to 29.7% in Counties Manukau. There were 267 SUDI cases, giving an overall rate of 0.64/1000 live births during the study period (2012–2018). The SUDI rate varied from 1.11/1000 in Northland to 0.30/1000 in Waitemata and Auckland. Counties Manukau had the largest number of deaths (n = 54; rate = 1.08/1000). Five DHB regions had increased risk of SUDI compared to the reference group but, after adjustment, no DHB was significantly increased. Conclusions: This study found that there is marked variation in SUDI risk by DHB, but this is explained by socio‐economic and demographic variation within DHBs. This study emphasises the importance of the contribution of social determinants of health to SUDI. [ABSTRACT FROM AUTHOR]

• Non-immunization was significantly associated with increased risk of SUDI. • The immunization schedule analyzed contained the combined hexavalent vaccine. • The immunization schedule analyzed contained the conjugated pneumococcal vaccine. In the context of vaccine scepticism, our study aimed to analyse the association between immunization status and the occurrence of sudden unexpected death in infancy (SUDI). Study design: A multi-centre case–control study was conducted between May 2015 and June 2017 with data from the French national SUDI registry (OMIN) for 35 French regional SUDI centres. Cases were infants under age 1 year who died from SUDI and who were registered in OMIN. Controls, matched to cases by age and sex at a 2:1 ratio, were infants admitted to Nantes University Hospital. All immunization data for diphtheria (D), tetanus (T), acellular pertussis (aP), inactivated poliovirus (IPV), Haemophilus influenzae b (Hib), hepatitis B (HB) and 13-valent pneumococcal conjugate vaccine (PCV13) were collected by a physician. Cases and controls were considered immunized if at least one dose of vaccine was administered. A total of 91 cases and 182 controls were included. The median age was 131 days (interquartile range 98–200.0) and the sex ratio (M/F) was about 1.1. For all vaccines combined (D- T -aP-IPV-Hib and PCV13), 22 % of SUDI cases versus 12 % of controls were non-immunized, which was significantly associated with SUDI after adjustment for potential adjustment factors (adjusted odds ratio 2.01 [95 % confidence interval 1.01–3.98, p = 0,047]). Non-immunization for D- T -aP-IPV-Hib-HB and PCV13 was associated with increased risk of SUDI. This result can be used to inform the general public and health professionals about this risk of SUDI in case of vaccine hesitancy. [ABSTRACT FROM AUTHOR]

Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other inborn errors of metabolism are common causes of Sudden Unexpected Deaths in Infancy (SUDI). If identified early or before metabolic decompensation, MCADD is manageable. In the US and other countries, identification of MCADD has improved through the routine use of newborn screening (NBS), which is able to identify most cases. This case study presented here occurred before NBS was implemented in Ohio for MCADD and outlines the typical clinical presentation, pathological features, and relevant biochemical and molecular markers for identifying MCADD. Genetic counselling should be sought for the family if MCADD is identified. [ABSTRACT FROM AUTHOR]

Abstract Background Despite the significant reduction decades ago in sudden unexpected death in infancy (SUDI), decline of rates has slowed and stalled in some countries, including the USA. This led to an appreciation of ethnic variations in SUDI rates and the need to increase cultural sensitivity regarding sleep practices and circumstantial factors of SUDI. The study explored SUDI-related factors, in journal articles from two geo-cultural regions (Asian and Western countries), particularly for factors related to infant sleep practices. Methods A systematic review was conducted to identify SUDI-related factors in articles from PubMed, Scopus, and the Korean Citation Index from January 1992 to April 2019. From each article, SUDI-related factors were retrieved and categorized through the identification, aggregation, and categorization of factors into the areas of the triple risk model (TRM) of SUDI by their meanings and commonality. Significant trends in the frequency of factors were analyzed across time and between the two geo-cultural regions (Asian and Western countries) of article. Results From a review of 218 articles (38 Asian and 180 Western articles), 84 SUDI-related factors were identified: 39 factors for TRM 1, 44 factors for TRM 2, and one factor for TRM 3. Four of the top-ranked 10 factors were found in both cultural zones: sleep position, male sex, bed-sharing, and genetics. Both cultural zones identified sleep position (44.0%), bed-sharing (22.0%), and rooming-in (16.5%) as the three most important sleep-related factors for SUDI. Variations between the cultural zones were observed in the place of SUDI occurrence, overheating, swaddling or bedding standards, and smoking. Conclusions Regardless of the urgent need to identify SUDI-related factors in low-SUDI societies, Asian cultures showed a significant lack of articles on SUDI. Several sociocultural issues were recognized such as the meaning of bed-sharing and rooming-in, along with residential styles and traditional health beliefs on sleep-related SUDI factors. Particularly little attention towards smoking was found in Asian articles in terms of frequency, suggesting the need to enhance SUDI reduction strategies by incorporating gender-sensitive smoking cessation interventions. This review of SUDI factors requests child health professionals to be alert to sociocultural variations in sleep practices and SUDI factors.

Background: Infant mortality remains a major global concern. Sudden unexpected death in infancy (SUDI) is common in South Africa, but evidence on the effect of possible risk factors remains limited. Respiratory infections have repeatedly been implicated in the death of these infants, but temporality has not yet been confirmed and SUDI remains a multi-factorial phenomenon. Methods: This study investigated the relationship between risk factors and positive human rhinovirus in the trachea and lungs of infants admitted to the Tygerberg Medico-legal Mortuary in Cape Town between 2012 and 2019. This study included a total of 407 cases. Results: The median (range) age of the infants was 9.1 (0.3 to 57.3) weeks. Infants who shared a bed with ≤ 1 person were significantly younger than those where bed-sharing with ≥ 3 people was reported (7.5 vs. 11.9 weeks, p=0.045). Cases with human rhinovirus present in the trachea and lung were significantly older (12.3 and 12.9 weeks, respectively; p<0.001) than those where no human rhinovirus was detected (8.0 and 8.7 weeks). After adjusting for possible confounders, the number of people bed-sharing and human rhinovirus detected in the trachea (standardized β [95%CI], p<0.001 and p=0.016 respectively) were independently associated with age when SUDI occurred. Conclusion: This study correlated laboratory results with demographic data and risk factors in SUDI cases. The most prominent findings were bed-sharing and the presence of human rhinovirus in the trachea. Infection can be reduced by modifiable means, such as ventilation where possible, sleeping position and providing the infant with a separate sleeping area or bed. However, this may not be possible for many communities in South Africa due to poverty, overcrowding and other socioeconomic reasons. [ABSTRACT FROM AUTHOR]

Summary: Background: Autonomic dysfunction has been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). Butyrylcholinesterase (BChE) is an enzyme of the cholinergic system, a major branch of the autonomic system, and may provide a measure of autonomic (dys)function. This study was undertaken to evaluate BChE activity in infants and young children who had died from Sudden Infant Death or Sudden Unexpected Death. Methods: In this case-control study we measured BChE activity and total protein in the eluate of 5μL spots punched from the dried blood spots taken at birth as part of the newborn screening program. Results for each of 67 sudden unexpected deaths classified by the coroner (aged 1 week-104 weeks) = Cases, were compared to 10 date of birth - and gender-matched surviving controls (Controls), with five cases reclassified to meet criteria for SIDS, including the criterion of age 3 weeks to 1 year. Findings: Conditional logistic regression showed that in groups where cases were reported as “SIDS death” there was strong evidence that lower BChE specific activity (BChEsa) was associated with death (OR=0·73 per U/mg, 95% CI 0·60-0·89, P=0·0014), whereas in groups with a “Non-SIDS death” as the case there was no evidence of a linear association between BChEsa and death (OR=1·001 per U/mg, 95% CI 0·89-1·13, P=0·99). Interpretation: BChEsa, measured in dried blood spots taken 2-3 days after birth, was lower in babies who subsequently died of SIDS compared to surviving controls and other Non-SIDS deaths. We conclude that a previously unidentified cholinergic deficit, identifiable by abnormal -BChEsa, is present at birth in SIDS babies and represents a measurable, specific vulnerability prior to their death. Funding: All funding provided by a crowd funding campaign https://www.mycause.com.au/p/184401/damiens-legacy

Background: Despite the significant reduction decades ago in sudden unexpected death in infancy (SUDI), decline of rates has slowed and stalled in some countries, including the USA. This led to an appreciation of ethnic variations in SUDI rates and the need to increase cultural sensitivity regarding sleep practices and circumstantial factors of SUDI. The study explored SUDI-related factors, in journal articles from two geo-cultural regions (Asian and Western countries), particularly for factors related to infant sleep practices.Methods: A systematic review was conducted to identify SUDI-related factors in articles from PubMed, Scopus, and the Korean Citation Index from January 1992 to April 2019. From each article, SUDI-related factors were retrieved and categorized through the identification, aggregation, and categorization of factors into the areas of the triple risk model (TRM) of SUDI by their meanings and commonality. Significant trends in the frequency of factors were analyzed across time and between the two geo-cultural regions (Asian and Western countries) of article.Results: From a review of 218 articles (38 Asian and 180 Western articles), 84 SUDI-related factors were identified: 39 factors for TRM 1, 44 factors for TRM 2, and one factor for TRM 3. Four of the top-ranked 10 factors were found in both cultural zones: sleep position, male sex, bed-sharing, and genetics. Both cultural zones identified sleep position (44.0%), bed-sharing (22.0%), and rooming-in (16.5%) as the three most important sleep-related factors for SUDI. Variations between the cultural zones were observed in the place of SUDI occurrence, overheating, swaddling or bedding standards, and smoking.Conclusions: Regardless of the urgent need to identify SUDI-related factors in low-SUDI societies, Asian cultures showed a significant lack of articles on SUDI. Several sociocultural issues were recognized such as the meaning of bed-sharing and rooming-in, along with residential styles and traditional health beliefs on sleep-related SUDI factors. Particularly little attention towards smoking was found in Asian articles in terms of frequency, suggesting the need to enhance SUDI reduction strategies by incorporating gender-sensitive smoking cessation interventions. This review of SUDI factors requests child health professionals to be alert to sociocultural variations in sleep practices and SUDI factors. [ABSTRACT FROM AUTHOR]

Objective: Higher mortality among full-term infants (term infant deaths) contributes to disparities in infant mortality between the United States and other developed countries. We examined differences in the causes of term infant deaths across county poverty levels and urban–rural classification to understand underlying mechanisms through which these factors may act. Methods: We linked period birth/infant death files for 2012-2015 with US Census poverty estimates and county urban–rural classifications. We grouped the causes of term infant deaths as sudden unexpected death in infancy (SUDI), congenital malformations, perinatal conditions, and all other causes. We computed the distribution and relative risk of overall and cause-specific term infant mortality rates (term IMRs) per 1000 live births and 95% CIs for county-level factors. Results: The increase in term IMR across county poverty and urban–rural classification was mostly driven by an increase in the rate of SUDI. The relative risk of term infant deaths as a result of SUDI was 1.6 (95% CI, 1.5-1.8) times higher in medium-poverty counties and 2.3 (95% CI, 1.2-2.5) times higher in high-poverty counties than in low-poverty counties. Cause-specific IMRs of congenital malformations, perinatal conditions, and death from other causes did not differ by county poverty level. We found similar trends across county urban–rural classification. Sudden infant death syndrome was the main cause of SUDI across both county poverty levels and urban–rural classifications, followed by unknown causes and accidental suffocation and strangulation in bed. Conclusions: Interventions aimed at reducing SUDI, particularly in high-poverty and rural areas, could have a major effect on reducing term IMR disparities between the United States and other developed countries. [ABSTRACT FROM AUTHOR]

This paper reports part of a wider systematic review commissioned by the English National Safeguarding Panel on Sudden Unexpected Death in Infancy (SUDI). The wider review covered three areas: interventions to improve safer sleep practices in high‐risk families, interventions to improve engagement with services and decision making by parents at high risk of SUDI about infant sleep environments. Here, we report the qualitative and quantitative studies reviewed under the engagement strand. Parental engagement is understood to be a multidimensional task for health and social care professionals comprising attitudinal, relational and behavioural components. Following a PROSPERO registered systematic review synthesizing the three strands outlined, 28 papers were found to be relevant in the review of interventions to improve engagement with services in families with children at risk of significant harm through abuse or neglect. No studies were found that specifically focused on engagement of families at high risk for SUDI, so these wider engagement studies were included. The different types of intervention reported in the included studies are described under two broad themes: Enablers (including parental motivation and working with families) and Barriers. Given the focus in the studies on interventions that support parental engagement, the Enablers theme is more extensive than the Barriers reported although all studies noted well‐understood barriers. The evidence underpinning these interventions and approaches are reviewed in this paper. We conclude that effective engagement is facilitated by experienced professionals given time to develop supportive non‐judgemental relationships with families in their homes, working long‐term, linking with communities and other services. While these conclusions have been drawn from wider studies aimed at reducing child maltreatment, we emphasize lessons to be drawn for SUDI prevention work with families with children at risk of significant harm. [ABSTRACT FROM AUTHOR]

Child mortality is a major health concern worldwide with over 4.2 million infants dying before reaching the age of one year in 2016 alone. Several international intervention initiatives have resulted in a decrease in the number of infant deaths; however, the incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) remain unacceptably high. SIDS still accounts for approximately 50–80% of SUDI cases, followed by infection.The aim of this study was to investigate a selection of immune biomarkers that are associated with an immune response in an effort to support the diagnosis of an infectious cause (“Infection”) e.g. bronchopneumonia, interstitial pneumonitis, etc., instead of SIDS in SUDI cases. C-reactive protein and 18 different cytokines were retrospectively quantified in serum collected during post-mortem investigations of SUDI cases admitted to the Tygerberg Medico-legal Mortuary in the Western Cape Province of South Africa between 2015 and 2017. Statistical comparison was done between infants with a final cause of death (COD) of Infection and SIDS to investigate any correlations between the immune markers and sociodemographic information of the groups. A p-value of

Aim: To identify how British Child Death Overview Panels (CDOPs) and paediatric pathologists classify cause of death for sleep-related Sudden Unexpected Death in Infancy (SUDI). To determine compliance with national requirements for SUDI investigation.Methods: Electronic survey of CDOPs and pathologists using three vignettes of SUDI cases illustrating: accidental asphyxia, typical Sudden Infant Death Syndrome (SIDS) and SIDS with co-sleeping.Results: Thirty-eight (41%) of 92 CDOPs returned questionnaires, and 32 were complete. Thirteen (14%) of 90 pathologists returned complete questionnaires. Thirty-one (97%) CDOPs and 7 (53%) pathologists agreed with the cause of death in the accidental asphyxia case; 24 (75%) CDOPs and 9 (69%) pathologists in the typical SIDS case; and 11 (34%) CDOPs and 1 (8%) pathologist in the co-sleeping SIDS case. Pathologists used the terms SUDI or unascertained as the cause of death for the accidental asphyxia case (46%) and the co-sleeping SIDS case (77%). These terms were used by CDOPs for the typical SIDS case (25%) and the co-sleeping SIDS case (41%). Seventeen (46%) CDOPs reported compliance with guidelines for investigation in more than 75% of cases.Conclusion: There is wide variation in classification of deaths, with only limited agreement between CDOPs and pathologists. The terms SIDS and accidental asphyxia are underused, even in typical cases. [ABSTRACT FROM AUTHOR]

Sudden infant death syndrome (SIDS) is a poorly understood disorder, and its pathophysiology and risk factors remain unclear. Research in the area is the key to combating the pervasive prevalence of this fatal disorder. We sought to identify the top 50 articles concerning SIDS and study their bibliometric characteristics to gain an insight into the research trends in this area. Using the Scopus database, two independent reviewers conducted a literature search using a prespecified search string. Results were arranged according to the citation count, and the top 50 relevant articles were selected. No time restrictions were set, and all types of articles were included. A detailed analysis was carried out to identify the trends and characteristics of the top 50 articles. The top 50 articles were published between 1972 and 2011, with the most productive 5-year interval being 1991–1995. These 50 papers accumulated a total of 13,703 citations (median = 236 citations per paper). Among these, about 9% were self-citations. The citations received by these core papers seemed to decline post-2009. The top 50 articles were published in 21 different journals, with Pediatrics contributing the most (n = 15). US authors were listed for 60% of the articles (n = 30). None of the articles originated from Asian authors. Our manuscript highlights the characteristics of impactful articles on SIDS – and this can act as a directive for researchers aiming to publish on this topic. Bibliometric parameters suggest a decreasing research interest in the field of SIDS, which is concerning, and efforts should be made to promote research. Furthermore, the lack of influential research from Asian authors is also troubling. Funding should preferably be directed toward Asian researchers to bridge the gap in knowledge. [ABSTRACT FROM AUTHOR]

In France, approximately 500 deaths per year are related to sudden infant death syndrome (SIDS). After a 75% reduction of SIDS-related deaths in the 1990s, thanks to large prevention campaigns directing parents to put their infants to sleep on their back, the number of SIDS-related deaths remains stable. However, we estimate that 100–200 infant deaths per year in France could be prevented with better education on the risk factors for SIDS. In this prospective, descriptive monocentric study, we aimed to evaluate the level of expectant women's knowledge about SIDS. Questionnaires were distributed during a midwife consultation. A score on sleeping conditions, environmental and protective factors was determined with coefficients attributed according to their relevance to SIDS. Of 296 questionnaires distributed, 202 were completed and included in the analysis from March 1 to September 21, 2018. Scores were distributed from 2 to 46/50. The average score was 28.6/50. Information was principally obtained from media and not health professionals. When the information was delivered by a caregiver, in particular by a paediatrician, we observed better knowledge among these women. This study shows that it is important for health professionals to take the time to inform future mothers about the risk factors for SIDS, especially the least informed population groups such as young mothers and those from lower socioeconomic status, in order to reduce the number of avoidable infant deaths. [ABSTRACT FROM AUTHOR]

Objective: To compare mortality in children aged <5 years from two causes amenable to healthcare prevention in England and Sweden: respiratory tract infection (RTI) and sudden unexpected death in infancy (SUDI).Design: Birth cohort study using linked administrative health databases from England and Sweden.Setting and Participants: Singleton live births between 2003 and 2012 in England and Sweden, followed up from age 31 days until the fifth birthday, death or 31 December 2013.Main Outcome Measures: The main outcome measures were HR for RTI-related mortality at 31-364 days and at 1-4 years and SUDI mortality at 31-364 days in England versus Sweden estimated using Cox proportional hazards models. We calculated unadjusted HRs and HRs adjusted for birth characteristics (gestational age, birth weight, sex and congenital anomalies) and socioeconomic factors (maternal age and socioeconomic status).Results: The English cohort comprised 3 928 483 births, 768 RTI-related deaths at 31-364 days, 691 RTI-related deaths at 1-4 years and 1166 SUDIs; the corresponding figures for the Swedish cohort were 1 012 682, 131, 118 and 189. At 31-364 days, unadjusted HR for RTI-related death in England versus Sweden was 1.52 (95% CI 1.26 to 1.82). After adjusting for birth characteristics, the HR reduced to 1.16 (95% CI 0.96 to 1.40) and for socioeconomic factors to 1.11 (95% CI 0.92 to 1.34). At 1-4 years, unadjusted HR was 1.58 (95% CI 1.30 to 1.92) and decreased to 1.32 (95% CI 1.09 to 1.61) after adjusting for birth characteristics and to 1.30 (95% CI 1.07 to 1.59) after further adjustment for socioeconomic factors. For SUDI, the respective HRs were 1.59 (95% CI 1.36 to 1.85) in the unadjusted model, and 1.40 (95% CI 1.20 to 1.63) after accounting for birth characteristics and 1.19 (95% CI 1.02 to 1.39) in the fully adjusted model.Conclusion: Interventions that improve maternal health before and during pregnancy to reduce the prevalence of adverse birth characteristics and address poverty could reduce child mortality due to RTIs and SUDIs in England. [ABSTRACT FROM AUTHOR]

• Williams syndrome is a rare multisystem genetic microdeletion disorder. • We found signs of cardiac dysfunction in the infant case with Williams syndrome. • We also found 16p11.2 microdeletion with neurodevelopmental abnormality. • This report highlights the importance of autopsies on microdeletion disorders. Williams syndrome (WS) is a rare genetic disorder caused by a microdeletion of chromosome 7q11.23. Although the mortality rate of patients with WS is not very high, sudden cardiac death can occur, particularly in cases complicated by coronary artery stenosis. A 3-month-old female infant with supravalvular aortic stenosis and peripheral pulmonary stenosis was discovered unconscious in bed by her mother. She was immediately transferred to an emergency hospital but succumbed despite multiple attempts as resuscitation. DNA microarray analysis revealed microdeletions of 7q11.23 and 16p11.2, confirming WS and unexpectedly identifying 16p11.2 deletion syndrome which is known to be associated with neurodevelopmental disorders. Postmortem computed tomography revealed a severely enlarged heart, indicative of cardiac dysfunction. External examination revealed moderate-to-severe developmental delays in height and body weight. The heart, on internal examination, revealed whitish-discolored lesions; histologically severe fibrotic changes and thickening of the intima in the coronary arteries and aorta. In the brain, the dentate gyrus of the hippocampus appeared malformed. Taken together, these findings suggest that the cause of death was cardiac dysfunction due to WS. In addition, it could be possible that 16p11.2 deletion syndrome and dentate gyrus malformation contributed to her death. Future autopsy studies are warranted to clarify the precise role of microdeletion disorders in sudden death to reduce future preventable deaths in children. [ABSTRACT FROM AUTHOR]

The brainstem has been a focus of sudden infant death syndrome (SIDS) research with amassing evidence of increased neuronal apoptosis. The present study extends the scope of brain regions examined and determines associations with known SIDS risk factors. Immunohistochemical expression of cell death markers, active caspase-3 and TUNEL, was studied in 37 defined brain regions in infants (aged 1-12 months) who died suddenly and unexpectedly (SUDI). A semi-quantitative mean score of marker expression was derived for each region and scores compared between three SUDI subgroups: explained SUDI (eSUDI; n = 7), SIDS I (n = 8) and SIDS II (n = 13). In eSUDI, active caspase-3 scores were highest in several nuclei of the rostral medulla, and lowest in the hypothalamus and cerebellar grey matter (GM). TUNEL was highest in regions of the hippocampus and basal ganglia, and lowest in the thalamus and cerebellar GM. TUNEL scores were higher in SIDS II compared to eSUDI in the amygdala (p = 0.03) and 5/9 nuclei in the rostral medulla (p = 0.04 − 0.01), and higher in SIDS II compared to SIDS I in the amygdala (p < 0.01), putamen (p = 0.01), lentiform nucleus (p = 0.03) and parietal (p = 0.03) and posterior frontal (p = 0.02) cortex. Active caspase-3 was greater in the hypoglossal nucleus (p = 0.03) of SIDS I compared to eSUDI infants. Co-sleeping, cigarette smoke exposure and the presence of an upper respiratory tract infection in SIDS infants was associated with differences in marker expression. This study affirms the sensitivity of the brainstem medulla to cell death in SIDS, and highlights the amygdala as a new region of interest. [ABSTRACT FROM AUTHOR]

The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available.

A comprehensive Child Death Review programme commenced in England in 2008; police, healthcare and social care professionals now work together, using a joint agency approach (JAA) to investigate unexpected child deaths. The aim of this paper is to explore professionals' experiences of the JAA investigation of sudden unexpected death in infancy (SUDI). This was part of a mixed‐methods study evaluating the JAA investigation of SUDI. Professionals participated in qualitative interviews and case notes were scrutinised. Data were analysed using a framework approach. A total of 23 of a possible 113 eligible SUDI cases were recruited. Twenty‐six professionals involved in investigating 12 of the 23 SUDI cases were interviewed giving theoretical saturation of data. The overarching theme was the conflict between the need to investigate deaths while remaining sensitive to families. Other themes were working together, supporting parents, and the benefits and difficulties of joint working practices. All professionals were positive about the JAA, especially joint police and paediatric interviews and home visits. The difficulties included non‐engagement by social care and poor liaison with coroners. The JAA seems to be a thorough investigative process but could be improved by closer joint agency working and information sharing, and more support and training for professionals. © 2018 John Wiley & Sons, Ltd. Key Practitioner Messages: Joint agency investigation of unexpected infant deaths enables a detailed understanding of the causes of death and the provision of support to families.Joint home visits by police and paediatricians following unexpected infant deaths provide more detailed information and can be more sensitive to families than police death scene examination alone.Prompt information sharing across all agencies is a key part of effective investigation of unexpected infant deaths. 'Explore[s] professionals' experiences of the joint agency approach investigation of sudden unexpected death in infancy' [ABSTRACT FROM AUTHOR]

Clinico-pathological studies that focus on sudden unexpected death (SUD) in the neonatal period are rare. The objective of this study was to elucidate the frequency and pathological spectrum of anatomical causes of death (CODs), found in the setting of sudden unexpected death in neonates (SUD-N), and to correlate the COD with premortem circumstantial information. We conducted a detailed review of all autopsy reports on SUD-N cases at our institution from 1997 to 2015. Analyzed clinical data included obstetrical history, postpartum/neonatal medical course, and circumstances surrounding death. Evaluated autopsy data included growth parameters, pathological findings, ancillary test results, and COD. Data from decedents in which a COD was established (COD-E) were statistically compared with that from decedents in which the COD was undetermined (COD-U). Of 104 neonates (M: 49; F: 55) who fulfilled our inclusion criteria, a COD was established at autopsy in 46 cases (44%). Infections, congenital abnormalities, and inborn errors of metabolism were the most common CODs. Single variables statistically more likely to be found in COD-E neonates were clinical history of prodromal illness, witnessed loss of vital signs, and evidence of physiological stress in the thymus or the liver. A prodrome was statistically more common in the COD-E group, but the absence of a prodrome does not reliably exclude COD-E cases, since over 50% of these patients were asymptomatic prior to their demise. In COD-U neonates, the statistically significant factors were death during sleep, death during sleep while “bed”-sharing, “heavy” lungs, and petechial hemorrhages on the epicardium or pleura. Given the frequency and wide spectrum of underlying pathologies in COD-E neonates, referral of SUD-N cases to pathologists with specialized pediatric autopsy expertise is recommended. [ABSTRACT FROM AUTHOR]

Abnormal muscularization of acinar arteries is the hallmark of persistent pulmonary hypertension of newborn (PPHN), an uncommon disease with high rate of morbidity and mortality. PPHN presents with signs of respiratory distress immediately following birth. We herein report 2 cases presenting as a witnessed sudden unexpected death in the late neonatal period, preceded by respiratory deterioration and in whom the presence of abnormal muscularization of the acinar pulmonary arteries was reminiscent of PPHN. The significance of this report is twofold: to increase the awareness among pediatricians and pathologists of this feature that can present in some cases of Sudden Unexpected Death in Infancy/Sudden Infant Death Syndrome, and to highlight the importance of performing a thorough autopsy in order to identify the abnormality. [ABSTRACT FROM AUTHOR]

The human diploid genome has approximately 40,000 functioning conserved genes distributed within 6 billion base pairs of DNA. Most individuals carry a few heterozygous deleterious mutations and this leads to an increased risk of recessive disease in the offspring of cousin unions. Rare recessive disease is more common in the children of cousin marriages than in the general population, even though less than 1% of marriages in the Western World are between first cousins. But more than 90% of the children of cousin marriages do not have recessive disease and are as healthy as the rest of the population. A mathematical model based on these observations generates simultaneous equations linking the mean number of deleterious mutations in the genome of adults (M), the mean number of new deleterious mutations arising in gametogenesis and passed to the next generation (N) and the number of genes in the human diploid genome (L). The best estimates are that M is less than 7 and N is approximately 1. The nature of meiosis indicates that deleterious mutations in zygotes will have a Poisson distribution with a mean of M + N. There must be strong selective pressure against zygotes at the upper end of the Poisson distribution otherwise the value of M would rise with each generation. It is suggested that this selection is based on synergistic interaction of heterozygous deleterious mutations acting in large complex highly redundant and robust genetic networks. To maintain the value of M in single figures over many thousands of generations means that the zygote loss must be of the order of 30%. Most of this loss will occur soon after conception but some will occur later; during fetal development, in infancy and even in childhood. Selection means genetic death and this is caused by disease to which the deleterious mutations predispose. In view of this genome sequencing should be undertaken in all infant deaths in which the cause of death is not ascertained by standard techniques.

Background: For over 25 years, nationwide efforts to address sudden infant death in New Zealand have focused on advising parents to avoid four risk factors labelled as modifiable. But Māori infants still have sudden unexpected death in infancy (SUDI) at five times the rate of non-Māori. Aim: This paper expands the conceptualisation of SUDI risk factors and suggests a reconsideration of the use of risk factor terminology. Discussion: Working from the assumption that health outcomes are influenced by social determinants, we put forward two key propositions. Firstly, we argue (using maternal smoking as a case in point) that greater attention must be paid to the role of social and socio-economic factors in the prevention of SUDI in Māori communities. Secondly, we propose that the language of risk reduction impedes Māori engagement with health services because the discourse associated with being "at risk" and "vulnerable" casts Māori in a deficit framework affecting how Māori are perceived by health professionals and, more importantly perhaps, how Māori see themselves. [ABSTRACT FROM AUTHOR]

Aims Published reports of brain weight in sudden infant death syndrome ( SIDS) are contradictory, although several have concluded that brain weight is increased in SIDS compared with controls or reference data. This is important as, if brain weight is significantly different, it may be of diagnostic use or provide insights into the aetiology of SIDS. The aim of this study was to use a large series of well-characterized sudden unexpected infant deaths from a single centre to provide definitive data regarding this issue. Methods A retrospective review identified 1100 infants who had died suddenly and undergone a comprehensive autopsy at Great Ormond Street Hospital between 1996 and 2011. They were split into two groups: those in whom death could be explained and those whose deaths remained unexplained despite full investigation ( SIDS/unexplained sudden unexpected death in infancy). Results There were 1100 cases of whom 573 (52%) were unexplained and 527 (48%) explained. Multiple regression analysis, which adjusted for sex, age and post-mortem interval, showed no difference in the ratio of brain weight : body weight between those infants dying of explained causes and those in whom no cause could be found. This finding remained true when restricting analysis to those with macroscopically normal brains. Conclusions In this large series of infants dying of both explained and unexplained causes, brain weight, once corrected for body weight, did not vary consistently with the cause of death. Brain weight cannot be used as a diagnostic indicator of the cause of death or to inform hypothetical models of the pathogenesis of SIDS. [ABSTRACT FROM AUTHOR]

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.What Is New: • We report a series of 19 cases strongly suggesting age of less than 3 months as a risk factor and suffocation as the mechanism of death. [ABSTRACT FROM AUTHOR]

Purpose: Many countries now have detailed investigations following sudden unexpected death in infancy (SUDI) but there is no clear evidence as to the most effective way to investigate SUDI. This systematic literature review addresses the following questions: What are the current models of practice for investigating SUDI? What is the evidence to support these investigative models? What are the key factors for effective SUDI investigation? Methods: This was a systematic review of papers from Europe, North America, and Australasia, detailing models of SUDI investigation or the outcomes of SUDI investigations. Results: The review includes data detailing four different models of investigation: police-led, coroner or medical examiner-led, healthcare-led or joint agency approach models. There were 18 different publications providing evidence of effectiveness of these models. All models, with the exception of police-led models, have the potential to reach best practice standards for SUDI investigation. Key factors identified for effective SUDI investigation include the need for mandatory investigation, strong leadership, integration with coronial services, and for investigations to be provided by specialist professionals. Conclusion: Detailed SUDI investigation should lead to greater understanding of why infants die and should help prevent future deaths. The challenge is now to ensure that local SUDI investigative practices are as effective as possible. [ABSTRACT FROM AUTHOR]

Aim Despite its declining incidence, sudden infant death syndrome ( SIDS) is still an important cause of death in infancy. This study investigated the environmental circumstances associated with SIDS, by analysing data from all sudden unexpected deaths in infancy ( SUDI) in Sweden from 2005 to 2011. Methods All Swedish infants forensically autopsied up to the age of 365 days from 2005 to 2011 were included. Medical records were obtained from the hospitals and supplementary data from the Swedish Medical Birth Register. Results Of the 261 infants, 136 were defined as SIDS and 125 as explained SUDI. The documentation in the medical records was poor when it came to issues such as bed sharing, sleep position, smoking, breastfeeding and pacifier use. The main findings were a significantly higher prevalence of bed sharing in SIDS than in explained deaths (odds ratio 7.77, 95% confidence interval 2.36-25.57) and that prone sleeping was still overrepresented. Bronchopneumonia, other infections and congenital anomalies were the most common causes of explained SUDI. Conclusion Bed sharing and prone sleeping were more common in SIDS than in explained SUDI. Sparse data in medical records were a problem, and the authors are now working with the National Board of Health and Welfare on a project to establish new routines. [ABSTRACT FROM AUTHOR]

In order to determine the associations between sudden unexpected death in infancy (SUDI) or acute life-threatening events (ALTE) and inborn errors of metabolism, particularly organic acidemia and fatty acid oxidation disorders, we evaluated clinical features in patients with SUDI or ALTE. The subjects were infants between the ages of 7 days and 3 years who developed SUDI or ALTE between January 2004 and December 2013. They were then diagnosed as having inborn errors of metabolism on gas chromatography-mass spectrometry (GC/MS) and/or tandem mass spectrometry (MS/MS). The age distribution, onset forms, and clinical findings were evaluated during the acute phase. Inborn errors of metabolism were detected in three of 196 patients with SUDI, and in seven of 167 patients with ALTE. Of these 10 patients, nine had a history of poor feeding and somnolence during the neonatal period, and symptoms of infection such as cough, fever or vomiting during infancy. Routine laboratory tests during an acute phase indicated hyperammonemia, liver dysfunction, increased blood creatine kinase, acidosis, positive ketone bodies in urine or blood, or hypoglycemia. When SUDI or ALTE are encountered in the emergency unit, it is essential that a detailed medical history is taken, particularly with regard to the neonatal period, and that specific abnormalities are investigated on routine laboratory tests. Moreover, samples such as urine, serum, and filter paper blood specimens should be collected for GC/MS and/or MS/MS of organic acids and acylcarnitines, to identify inborn metabolic disorders. [ABSTRACT FROM AUTHOR]

The human diploid genome has approximately 40,000 functioning conserved genes distributed within 6 billion base pairs of DNA. Most individuals carry a few heterozygous deleterious mutations and this leads to an increased risk of recessive disease in the offspring of cousin unions. Rare recessive disease is more common in the children of cousin marriages than in the general population, even though <1% of marriages in theWestern World are between first cousins. But more than 90% of the children of cousin marriages do not have recessive disease and are as healthy as the rest of the population. A mathematical model based on these observations generates simultaneous equations linking the mean number of deleterious mutations in the genome of adults (M), the mean number of new deleterious mutations arising in gametogenesis and passed to the next generation (N) and the number of genes in the human diploid genome (L). The best estimates are that M is <7 and N is approximately 1. The nature of meiosis indicates that deleterious mutations in zygotes will have a Poisson distribution with a mean of MCN. There must be strong selective pressure against zygotes at the upper end of the Poisson distribution otherwise the value ofM would rise with each generation. It is suggested that this selection is based on synergistic interaction of heterozygous deleterious mutations acting in large complex highly redundant and robust genetic networks. To maintain the value of M in single figures over many thousands of generations means that the zygote loss must be of the order of 30%. Most of this loss will occur soon after conception but some will occur later; during fetal development, in infancy and even in childhood. Selection means genetic death and this is caused by disease to which the deleterious mutations predispose. In view of this genome sequencing should be undertaken in all infant deaths in which the cause of death is not ascertained by standard techniques. [ABSTRACT FROM AUTHOR]

Epidemiological, developmental and pathological research over the last 40 years has done much to unravel the enigma of sudden unexpected death in infancy ( SUDI) and sudden infant death syndrome ( SIDS) that has afflicted the human condition for millennia. Modifications in infant care practices based on the avoidance of risk factors identified from a consistent epidemiological profile across time and multiple locations have resulted in dramatic reductions in the incidence of SUDI and SIDS in particular. The definition of SIDS (or unexplained SUDI) has been continually refined allowing enhanced multidisciplinary research, results of which can be more reliably compared between investigators. These latter expanded definitions mandating death scene investigations, evaluation of the circumstances of death and more comprehensive autopsies including additional ancillary testing have illuminated the importance of life-threatening sleep environments. The triple-risk hypothesis for SIDS has been increasingly validated and formulates an inextricable relationship between an infant's state of development, underlying pathological vulnerability and an unsafe sleep environment for sudden infant death to occur. Today, the major risk factors for SUDI are maternal smoking and bed sharing, and the challenge is to implement effective strategies that will reduce the exposure to such risks as was done with prone sleeping position. The challenges ahead include development of clinical methods and/or laboratory testing that will accurately identify which infants are at particularly high risk of SIDS but also means by which their deaths can be prevented. [ABSTRACT FROM AUTHOR]

This case describes the autopsy findings of a 2-month-old male infant with extensive and severe developmental brain abnormalities, including microcephaly, neocortical neuronal layering abnormalities, leptomeningeal heterotopias, commissural agenesis, and cerebellar and brainstem hypoplasia. Microarray analysis identified a gain in chromosome band 6q27, which includes the entire coding region of THBS2. THSB2 encodes thrombospondin 2 (TSP2), an astrocyte secreted protein of the extracellular matrix that promotes synaptogenesis, neurite outgrowth, and cerebellar granule cell migration. Thrombospondin 2 is not a matrix structural protein; instead it serves as an extracellular modulator of cell function, so it is considered a matricellular protein. The neuropathological findings at autopsy are compatible with perturbations in several known functions of TSP2 and demonstrate that TSP2 dysregulation can have a significant negative impact on human brain development. Furthermore, this case demonstrates the important role of astrocytes in human brain development. [ABSTRACT FROM AUTHOR]

Currently in South Africa research into sudden unexpected death in infancy (SUDI) is limited. The causes of sudden infant death syndrome (SIDS) remain obscure despite full medico-legal investigations inclusive of autopsy, scene visit and ancillary studies. Viral infections play an important role as a multitude of respiratory viruses have been detected in autopsy specimens and are implicated in these deaths. The specific contribution of viruses in the events preceding SIDS still warrants deciphering. Infancy is characterised by marked vulnerability to infections due to immaturities of the immune system that may only resolve by the age of 24 months. Routine viral screening of all SUDI cases at Tygerberg Forensic Pathology Service (FPS) Mortuary in Cape Town focuses on only a portion of respiratory viruses from lung and liver tissue. This review highlights important virological and immunological aspects regarding investigations into the infectious nature of SUDI, including the lack of national standardised guidelines for appropriate specimen collection at autopsy and subsequent laboratory analysis. [ABSTRACT FROM AUTHOR]

Objectives An ectopic cervical thymus (ECT) is regarded as a rare congenital anomaly; therefore, the optimal diagnostic and therapeutic strategy remains a debatable matter. We designed a study to elucidate the clinicopathological characteristics of ECTs in consecutive, unselected infant autopsies, to help guide case management. Methods We searched for ECTs in all of the 21 consecutive, unselected infant autopsy cases performed at our institution over a period of 3 years, and all ECT consensus diagnoses were confirmed by histological examination. The following clinical characteristics were evaluated in cases with ECTs: age, gender, birth week and weight, clinical symptoms due to the ECT(s), position on discovery of death, cause of death, ECT contribution to the cause of death, and concomitant congenital disorders. The anatomical features evaluated included the location, number, size, color, shape, and margins of the ECTs, and the presence of a mediastinal thymus. Histological findings of the ECT(s) and the mediastinal thymus were compared within each individual. Fusion of the parathyroid and the ECT was also investigated histologically. Spearman's rank correlation coefficient ( ρ ) and the corresponding P value were calculated to determine if there was an association between ECT diameter and age. Results We detected 10 ECT lesions in seven cases (33%) among the 21 infant autopsy cases. The ECT cases involved five boys and two girls, with ages ranging from 1 day to 4 months. There were no reports of a positive family history of sudden death or antemortem clinical symptoms due to ECT in any of the cases. The ECTs were considered incidental regarding the cause of death, with the exception of one case that was extremely rare. Most ECTs were localized to the inferior thyroid, ranging from 0.4 to 1.9 cm in size. Size demonstrated a significant negative correlation with age ( ρ = −0.75 and P = 0.034). Conclusions This study revealed that ECT is an essentially benign anomaly that occurs frequently during the development of the thymus, and may disappear over the first few years of life. These results suggest a conservative approach to the management of ECTs would be appropriate. [ABSTRACT FROM AUTHOR]

The purpose of this study was to investigate the frequency, circumstances, demographics, and causes of death of infants dying while seated in car safety seats. A retrospective review of a pediatric autopsy database at a specialist center over a 16-year period was undertaken to identify any infant deaths (aged <1 year), in whom death occurred while seated in a car safety seat. Fourteen car seat-associated deaths were identified from a total of 1,465 coronial infant autopsies (0.96 %). Four involved infants were being appropriately transported in the car seat, all of whom had a medical underlying cause of death (one infection and three congenital heart disease). The majority (10 cases; 70 %) occurred while car seats were being inappropriately used, outside of the car, including as an alternative to a cot or high-chair. Five of these infants died of explained causes, but four deaths remained unexplained after autopsy, and in one no cause of death was available. There were no cases of previously healthy infants dying unexpectedly in a car seat when it was being used appropriately, and in this series there were no cases of traumatic death associated with car seats, either during road traffic accidents, or from falling or being suspended from a car seat. Infant deaths in car seats are rare. These data support the recommendation that car seats be used only for transport and not as alternatives for cots or high-chairs. More research is required to investigate the effect of travel in car seats on infants with underlying conditions. There appears to be no increased risk of unexpected deaths of healthy infants transported appropriately in car seats. [ABSTRACT FROM AUTHOR]

Abstract: Rationale: Carnitine palmitoyltransferase (CPT) II is one of a pivotal enzyme in mitochondrial fatty acid oxidation, which is essential for energy production during simultaneous glucose sparing and a requirement for major energy supply, such as prolonged fasting or exercise. When infants require more energy than provided by the glycolytic system, they rely on the mitochondrial fatty acid oxidation pathway. Mutations of the CPT2 gene have been reported to cause sudden unexpected death in infancy (SUDI). A thermolabile phenotype of a CPT2 polymorphism (F352C) has been recently reported to reduce CPT II enzyme activity. The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy. However, a relationship between CPT2 gene polymorphism and SUDI has not been described. Methods: Single nucleotide polymorphisms of the CPT2 gene were investigated among 54 SUDI cases and 200 healthy volunteers. Results: The frequency of the C allele was significantly higher in the SUDI group than in the control group [25.0% vs 16.0%, odds ratio (OR)=1.75, 95% confidence interval (CI)=1.05–2.92, p =0.030). The frequency of the F352C homozygote was significantly higher in the SUDI group than in control group (11.1% vs 3.5%, OR=3.45, 95% CI=1.11–10.73, p =0.036). Conclusion: The F352C CPT2 variant might be a genetic risk factor for SUDI. [Copyright &y& Elsevier]

Background: Sudden Unexpected Death in Infancy (SUDI) has persistent high rates in deprived indigenous communities and much of this mortality is attributable to unsafe sleep environments. Whilst health promotion worldwide has concentrated on avoidance of bedsharing, the indigenous Māori community in New Zealand has reproduced a traditional flax bassinet (wahakura) designed to be used in ways that include bedsharing. To date there has been no assessment of the safety of this traditional sleeping device. Methods/Design: This two arm randomised controlled trial is being conducted with 200 mother-baby dyads recruited from Māori communities in areas of high deprivation in the Hawkes Bay, New Zealand. They are randomised to wahakura or bassinet use and investigation includes questionnaires at baseline (pregnancy), when baby is 1, 3, and 6 months, and an overnight video sleep study at 1 month with monitoring of baby temperature and oxygen saturation, and measurement of baby urinary cotinine and maternal salivary oxytocin. Outcome measures are amount of time head covered, amount of time in thermal comfort zone, number of hypoxic events, amount of time in the assigned sleep device, amount of time breastfeeding, number of parental (non-feed related) touching infant events, amount of time in the prone sleep position, the number of behavioural arousals and the amount of time infant is awake overnight. Survey data will compare breastfeeding patterns at 1, 3, and 6 months as well as data on maternal mind-mindedness, maternal wellbeing, attachment to baby, and maternal sleep patterns. Discussion: Indigenous communities require creative SUDI interventions that fit within their prevailing world view. This trial, and its assessment of the safety of a wahakura relative to a standard bassinet, is an important contribution to the range of SUDI prevention research being undertaken worldwide. [ABSTRACT FROM AUTHOR]

Aim Early sudden unexpected death in infancy (ESUDI) is a rare cause of death occurring in newborns during the first hours of life. Our aim was to find additional data for the identification of risk factors and establishment of prevention strategies. Methods We describe three cases of ESUDI and give an overview of the literature. Results ESUDI was observed in term babies with normal birth weight after good postnatal adaptation within the first four hours of life. Maternal age was between 29 and 36 years, mothers were primiparous and of normal weight. All three events occurred during unobserved early skin-to-skin contact. Autopsy and post-mortem metabolic screening revealed no cause of death. A search of the MEDLINE and Web of Science (Thomson Reuters) databases brought to light 132 cases of ESUDI reported in the literature from 1985 to 2012. Concurrent with our observations, first parity and unobserved early skin-to-skin contact seem to be prime predictors of ESUDI. Other pre-described risk factors such as mode of delivery, birth weight, mother's age and body mass index were not seen in our patients. Conclusion Close observation during the first hours of life is essential and can be life-saving, especially during early skin-to-skin contact. [ABSTRACT FROM AUTHOR]

Abstract: Mitochondrial respiratory chain disorders are the most common disorders among inherited metabolic disorders. However, there are few published reports regarding the relationship between mitochondrial respiratory chain disorders and sudden unexpected death in infancy. In the present study, we performed metabolic autopsy in 13 Japanese cases of sudden unexpected death in infancy. We performed fat staining of liver and postmortem acylcarnitine analysis. In addition, we analyzed mitochondrial respiratory chain enzyme activity in frozen organs as well as in postmortem cultured fibroblasts. In heart, 11 cases of complex I activity met the major criteria and one case of complex I activity met the minor criteria. In liver, three cases of complex I activity met the major criteria and four cases of complex I activity met the minor criteria. However, these specimens are susceptible to postmortem changes and, therefore, correct enzyme analysis is hard to be performed. In cultured fibroblasts, only one case of complex I activity met the major criteria and one case of complex I activity met the minor criteria. Cultured fibroblasts are not affected by postmortem changes and, therefore, reflect premortem information more accurately. These cases might not have been identified without postmortem cultured fibroblasts. In conclusion, we detected one probable case and one possible case of mitochondrial respiratory chain disorders among 13 Japanese cases of sudden unexpected death in infancy. Mitochondrial respiratory chain disorders are one of the important inherited metabolic disorders causing sudden unexpected death in infancy. We advocate metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy cases. [Copyright &y& Elsevier]

Background: The northern territory Nunavut has Canada's largest jurisdictional land mass with 33,322 inhabitants, of which 85% self-identify as Inuit. Nunavut has rates of infant mortality, postneonatal mortality and hospitalization of infants for respiratory infections that greatly exceed those for the rest of Canada. The infant mortality rate in Nunavut is 3 times the national average, and twice that of the neighbouring territory, the Northwest Territories. Nunavut has the largest Inuit population in Canada, a population which has been identified as having high rates of Sudden Infant Death Syndrome (SIDS) and infant deaths due to infections. Methods: To determine the causes and potential risk factors of infant mortality in Nunavut, we reviewed all infant deaths (<1yr) documented by the Nunavut Chief Coroner's Office and the Nunavut Bureau of Statistics (n=117;1999-2011). Rates were compared to published data for Canada. Results: Sudden death in infancy (SIDS/SUDI; 48%) and infection (21%) were the leading causes of infant death, with rates significantly higher than for Canada (2003-2007). Of SIDS/SUDI cases with information on sleep position (n=42) and bed-sharing (n=47), 29 (69%) were sleeping non-supine and 33 (70%) were bed-sharing. Of those bed-sharing, 23 (70%) had two or more additional risk factors present, usually non-supine sleep position. CPT1AP479L homozygosity, which has been previously associated with infant mortality in Alaska Native and British Columbia First Nations populations, was associated with unexpected infant death (SIDS/SUDI, infection) throughout Nunavut (OR:3.43, 95% CI:1.30-11.47).Conclusion: Unexpected infant deaths comprise the majority of infant deaths in Nunavut. Although the CPT1AP479L variant was associated with unexpected infant death in Nunavut as a whole, the association was less apparent when population stratification was considered. Strategies to promote safe sleep practices and further understand other potential risk factors for infant mortality (P479L variant, respiratory illness) are underway with local partners. [ABSTRACT FROM AUTHOR]

Aim: To review autopsy reports of all SUDI deaths in the Auckland region, New Zealand, from October 2000 to December 2009. Methods: Information on all SUDI cases from 2000 to 2009 was extracted from autopsy and police reports from the National Forensic Pathology Service at Auckland Hospital. Results: Of the 332 post-mortems in this period, 221 were classified as SUDI. Of these, 83% were Māaori or Pacific infants. The median age at death was 11 weeks and 11% occurred in 7- to 28-day-olds. At the time of death, 64% overall were bedsharing; this was more common in 7-28 day olds (92%). Bedsharing infants were significantly younger at death than non-bedsharing infants (p = 0.008). Where sleep position was known, 57% were placed in non-supine at the last sleep. There was no evidence of diagnostic shift and the prevalence of bedsharing did not change over the decade. Conclusions: Bedsharing was associated with a high proportion of SUDI cases, especially in the youngest infants, and non-supine sleep positions were common. There is a need to enhance SUDI prevention messages and consider innovative ways of promoting safe sleeping environment and supine sleep position in Māori and Pacific communities. [ABSTRACT FROM AUTHOR]

Abstract: Sudden unexpected death in infancy is defined as sudden unexpected death occurring before 12months of age. The common causes of sudden unexpected death in infancy are infection, cardiovascular anomaly, child abuse, and metabolic disorders. However, the many potential inherited metabolic disorders are difficult to diagnose at autopsy and may therefore be underdiagnosed as a cause of sudden unexpected death in infancy. In the present study we retrospectively reviewed 30 Japanese sudden unexpected death in infancy cases encountered between 2006 and 2009 at our institute. With postmortem blood acylcarnitine analysis and histological examination of the liver, we found two cases of long-chain fatty acid oxidation defects. Molecular analysis revealed that the one patient had a compound heterozygote for a novel mutation (p.L644S) and a disease-causing mutation (p.F383Y) in the carnitine palmitoyltransferase 2 gene. Furthermore, retrospective acylcarnitine analysis of the newborn screening card of this patient was consistent with carnitine palmitoyltransferase II deficiency. Metabolic autopsy and expanded newborn screening would be helpful for forensic scientists and pediatricians to diagnose fatty acid oxidation disorders and prevent sudden unexpected death in infancy. [Copyright &y& Elsevier]

Background. Incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) differs among studies and non-autopsied cases are difficult to assess. Objectives. To investigate causes of sudden death in infancy in a nationwide setting. Validate the use of the ICD-10 code for SIDS (R95) in the Danish Cause of Death registry. Design. A retrospective analysis of all infant deaths (< 1 year of age) in Denmark in 2000--2006. All death certificates and autopsy reports were read. Results. We identified 192 SUDI cases (10% of total deaths, 0.42 per 1000 births) with autopsy performed in 87% of cases. In total, 49% of autopsied SUDI cases were defined as SIDS (5% of all deaths, 0.22 per 1000 births); Cardiac cause of death was denoted in 24% of cases. The Danish Cause of Death Registry misclassified 30% of SIDS cases. Conclusions. A large proportion of infant deaths are SUDI, and the majority of these are caused by cardiac disease or SIDS. Autopsy is not always performed and valuable information is subsequently lost. Cause of Death registry data is not accurate in describing SIDS. [ABSTRACT FROM AUTHOR]

Abstract: Sudden unexpected death in infancy (SUDI) includes sudden infant death syndrome (SIDS). Co-sleeping is regarded as a major risk factor for SIDS. Under normal circumstances, nucleated red blood cells (nRBCs) are absent from the peripheral blood and their release can occur in cases with a probable hypoxic mode of death. The aim of our study was to assess the significance of the release of nRBCs in SIDS occurring during co-sleeping and the association with hemorrhages in the dura and the lungs. 35 cases were retrospectively assigned to one of the following categories: (I) 9 SUDI (of various causes) with no co-sleeping; (II) 16 SIDS while co-sleeping; (III) cause of death in hypoxic circumstances (3 hangings, 2 cardiac malformations, 1 meningitis 1 intoxication with diazepam); (IV) 3 SIDS in the cot. nRBCs were present in 5/9 cases of Category I (mean: 0.5%); 10/16 cases of Category II (mean: 1.87%); 7/7 cases of Category III (mean: 3.8%) and 0/3 cases of Category IV (mean: 0). ANOVA one-way test showed a significance of 0.003 amongst the 4 groups. The presence of diffuse intra-alveolar hemorrhage was associated with a higher release of nRBCs (mean: 3.1%) than focal hemorrhage (mean 0.6%). nRBCs were associated with focal hemorrhages in the falx and tentorium (mean: 2.3 vs. 0.9% when no hemorrhages were seen). The high mean of nRBCs seen in the co-sleeping SIDS cases suggests a higher exposure to hypoxia in the co-sleeping group which may have led to the release of nRBCs. More cases need to be analyzed to confirm this hypothesis. [Copyright &y& Elsevier]

Abstract: Background:: Specific genetic polymorphisms have been shown to be more common in unexplained infant death. The APOE genotype exhibits opposite effects at the extremes of age with protective effects of e4 on perinatal mortality but detrimental effects as age progresses. Objective:: To determine whether the APOE e4 allele is associated with early childhood (1 week–2 years) unexplained death (‘sudden infant death syndrome’, SIDS) or with recognised causes (non-SIDS) and to compare these cohorts with published perinatal and adult data. Methods:: DNA was extracted from spleen tissue of children dying in South East Scotland between 1990 and 2002. APOE alleles (e2, e3, e4) were determined using PCR. Comparisons of allele frequencies between groups were made. Results:: There were 167 SIDS cases and 117 non-SIDS cases. Allele distributions of SIDS cases were similar to healthy newborns. Allele distributions of non-SIDS cases were more similar to adults than to healthy newborns. The percentage of children with at least one e4 allele was significantly lower in non-SIDS compared to SIDS (p =0.016). Non-SIDS cases had a higher frequency of e3 compared to SIDS cases (p =0.01) and to healthy newborns (0.005). Conclusions:: Children dying from identified causes have different APOE allele distributions from SIDS cases, but are similar to adults. Children dying from SIDS have an allele distribution comparable to healthy newborns. The prevalence of e4 in SIDS is not of an order to contribute significantly to the age-related decline in e4. [Copyright &y& Elsevier]