Surviving birth at high altitude.

This Symposium Review examines challenges to surviving birth and infancy at high altitudes. Chronic exposure to the environmental hypoxia of high altitudes increases the incidence of maternal vascular disorders of pregnancy characterized by placental insufficiency, restricted fetal growth and preterm delivery, and impairs pulmonary vascular health during infancy. While each condition independently contributes to excess morbidity and mortality in early life, evidence indicates vascular disorders of pregnancy and infantile pulmonary vascular dysfunction are intertwined. By integrating our recent scientific and clinical observations in Bolivia with existing literature, we propose potential avenues to reduce the infant mortality burden at high altitudes and reduce pulmonary vascular disease in highland neonates, and emphasize the need for further research to address unresolved questions.

Inconsistency Between Pictures on Baby Diaper Packaging in Europe and Safe Infant Sleep Recommendations.

OBJECTIVE: To describe the level of inconsistency between pictures on baby diaper packaging and safe infant sleep recommendations (SISRs) in Europe. STUDY DESIGN: We attempted to identify all packaging of baby diapers sold in 11 European countries for infants weighing less than 5 kg through internet searches from July 2022 through February 2023. For each type of package, we extracted whether there was a picture depicting a baby, whether the baby was sleeping, and whether the picture of the sleeping baby was inconsistent with ≥1 of 3 SISRs: (i) nonsupine sleeping position, (ii) soft objects or loose bedding, or (iii) sharing a sleep surface with another person. Data were aggregated at the country level, and a random-effects meta-analysis of proportions was used to obtain summary estimates. The outcome was the summary estimate of the proportion of pictures that were inconsistent with SISRs. RESULTS: We identified 631 baby diaper packaging types of which 49% (95% CI: 42-57; n = 311) displayed a picture of a sleeping baby. Among those 311 packages, 79% (95% CI 73-84) were inconsistent with ≥1 SISR, including a nonsupine sleeping position, 45% (95% CI 39-51), soft objects or loose bedding such as pillows or blankets, 51% (95% CI 46-57), and sharing a sleep surface with another person, 10% (95% CI 4-18). CONCLUSIONS: Pictures on baby diaper packaging in Europe are often inconsistent with SISRs. The prevention of sudden unexpected death in infancy requires action from manufacturers and legislators to stop parents' exposure to misleading images that may lead to dangerous practices.

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Sudden infant death syndrome (SIDS) is still the leading cause of death for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but in some of SIDS cases variants of genes associated with inherited cardiac conditions are found. In this study, an analysis of SCD-related genes was performed to determine the prevalence of rare pathogenic (P) or likely pathogenic (LP) variants that could provide an unambiguous explanation for the fatal event. A cohort of 76 SIDS cases underwent Next-Generation Sequencing (NGS) analysis with a custom panel of SCD-related genes. Rare variants were classified according to the guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the specifications of the ClinGen association. Post-mortem genetic testing identified 50 (65.8%) carriers of at least one variant in SCD genes. 104 rare genetic variants were found, 65.4% in genes encoding structural proteins. Only 4 out of 76 cases (5.3%) hosted at least a P or LP variant found in genes with structural or structural/arrhythmogenic functions (SLC22A5, SCN5A, MYL3and TTN). 99 variants were classified as of uncertain significance (VUS). The difference in the distribution of variants between gene groups by function was not statistically significant (chi square, p = 0,219). Despite this, most of the variants concerned structural genes that were supposed to have a close interaction with ion channels, thus providing an explanation for the arrhythmic event. Segregation analysis, reclassification of VUS variants and identification of new associated genes could clarify the implications of the current findings.

Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13.

OBJECTIVES: Disturbances of the central nervous system and immune system are thought to play a role in sudden infant death syndrome (SIDS). Dysregulated expression of sodium (Na+)/hydrogen (H+) exchanger 3 (NHE3) in the brainstem and of interleukin 13 (IL13) in the lungs has been observed in SIDS. An association of single-nucleotide polymorphisms (SNPs) in NHE3 and IL13 with SIDS has been proposed, but controversial results were reported. Therefore, there is a need to revisit the association of SNPs in NHE3 and IL13 with SIDS. METHODS: Genotyping of rs71597645 (G1131A) and rs2247114 (C2405T) in NHE3 and rs20541 (+ 4464A/G) in IL13 was performed in 201 SIDS cases and 338 controls. A meta-analysis was performed after merging our data with previously published data (all from European populations). RESULTS: Polymorphisms rs2247114 (NHE3) and rs20541 (IL13) were significantly associated with SIDS overall and in multiple subgroups, but no association was found for rs71597645 (NHE3). After combining our data with previously published data, a fixed-effect meta-analysis showed that rs2247114 in NHE3 retained a significant association with SIDS under a recessive model (OR 2.78, 95%CI 1.53 to 5.06; p = 0.0008). CONCLUSION: Our findings suggest an association of NHE3 variant rs2247114 (C2405T), though not rs71597645 (NHE3), with SIDS. A potential role of rs20541 (IL13) still has to be elucidated. Especially NHE3 seems to be an interesting topic for future SIDS research.

Autopsy report of a sudden infant death that was strongly suspicious of Kawasaki disease.

We conducted an autopsy on a 3-month-old boy in whom Kawasaki disease (KD) was strongly suspected based on the autopsy findings. The infant had a fever and was brought to a nearby clinic, where he was prescribed antipyretics and kept under observation. However, 15 days after onset of the fever, he suddenly died in bed. He exhibited no obvious redness of the lips, tongue, or conjunctiva. Membranous desquamation was present on his distal fingers. Vasculitis was observed in the coronary arteries, renal artery, splenic artery, and pulmonary vein. In addition, coronary artery aneurysms were present in the right coronary artery and left anterior descending artery. Thrombotic occlusion was observed in one aneurysm in the right coronary artery, resulting in acute myocardial infarction. The coronary artery wall showed infiltration of numerous macrophages and neutrophils. This case was classified as incomplete KD because the coronary artery aneurysm could not be demonstrated before death and was only recognized at autopsy. Pathologists and forensic scientists need to be aware that there are cases in which KD goes undiagnosed and untreated, leading to coronary artery aneurysm formation and sudden death.

Sudden Infant Death Syndrome (SIDS): State of the Art and Future Directions.

Sudden infant death syndrome (SIDS) is a type of death that occurs suddenly and without any apparent explanation, affecting infants between 28 days of life and up to a year. Recognition of this entity includes performing an autopsy to determine if there is another explanation for the event and performing both an external and internal examination of the different tissues to search for possible histopathological findings. Despite the relative success of awareness campaigns and the implementation of prevention measures, SIDS still represents one of the leading causes of death among infants worldwide. In addition, although the development of different techniques has made it possible to make significant progress in the characterization of the etiopathogenic mechanisms underlying SIDS, there are still many unknowns to be resolved in this regard and the integrative consideration of this syndrome represents an enormous challenge to face both from a point of view scientific and medical view as humanitarian. For all these reasons, this paper aims to summarize the most relevant current knowledge of SIDS, exploring from the base the characterization and recognition of this condition, its forensic findings, its risk factors, and the main prevention measures to be implemented. Likewise, an attempt will be made to analyze the causes and pathological mechanisms associated with SIDS, as well as potential approaches and future paths that must be followed to reduce the impact of this condition.

A study of Samoan, Tongan, Cook Island Maori, and Niuean infant care practices in the Growing Up in New Zealand study.

BACKGROUND: Despite a low rate of infant mortality, Aotearoa New Zealand has a high rate of Sudden Unexpected Death in Infants (SUDI), with disproportionate impact for Pacific infants. This study explored the infant care practices, factors and relationships associated with increased risk of SUDI amongst Tongan, Samoan, Cook Islands Maori, and Niuean mothers in New Zealand, to inform evidence-based interventions for reducing the incidence of SUDI for Pacific families and their children. METHODS: Analysis comprised of data collected in 2009-2010 from 1089 Samoan, Tongan, Cook Islands Maori and Niuean mothers enrolled in the Growing Up in New Zealand longitudinal cohort study. The sleeping environment (bed-sharing and sleep position) of the infants was assessed at 6 weeks. Multivariable logistic regression analysis were conducted, controlling for sociodemographic factors to explore the association between selected maternal and pregnancy support and environment factors and the sleeping environment for infants. RESULTS: Mothers who converse in languages other than English at home, and mothers who consulted alternative practitioners were less likely to follow guidelines for infant sleeping position. Similarly language, smoking, alcohol, household dwelling, crowding and access to a family doctor or GP were associated with mothers following guidelines for bed-sharing. CONCLUSION: The impact of SUDI on Pacific infants may be lessened or prevented if communication about risk factors is more inclusive of diverse ethnic, cultural worldviews, and languages. Societal structural issues such as access to affordable housing is also important. This research suggests a need for more targeted or tailored interventions which promote safe sleeping and reduce rates of SUDI in a culturally respectful and meaningful way for Pasifika communities in Aotearoa, New Zealand.

Investigation of infant deaths associated with critical congenital heart diseases; 2018-2021, Türkiye.

BACKGROUND: The aim of this study was to examine the characteristics of infant mortality associated with critical congenital heart disease (CCHD). METHODS: In a cross-sectional study, data for the study were obtained through Death Notification System, Birth Notification System and Turkish Statistical Institute birth statistics. RESULTS: Of all infant deaths, 9.8% (4083) were associated with CCHD, and the infant mortality rate specific to CCHD was 8.8 per 10,000 live births. CCHD-related infant deaths accounted for 8.0% of all neonatal deaths, while the CCHD specific neonatal death rate was 4.6 per 10,000 live births. Of the deaths 21.7% occurred in the early neonatal, 30.3% in the late neonatal and 48.0% in the post neonatal period. Group 1 diseases accounted for 59.1% (n = 2415) of CCHD related infant deaths, 40.5% (n = 1652) were in Group 2 and 0.4% (n = 16) were in the unspecified group. Hypoplastic left heart syndrome was the most common CCHD among infant deaths (n = 1012; 24.8%). The highest CCHD related mortality rate was found in infants with preterm birth and low birth-weight while multiparity, maternal age ≥ 35 years, twin/triplet pregnancy, male gender, maternal education in secondary school and below, and cesarean delivery were also associated with higher CCHD related infant mortality rate. There was at least one non-cardiac congenital anomaly/genetic disorder in 26.1% of all cases. CONCLUSION: CCHD holds a significant role in neonatal and infant mortality in Türkiye. To mitigate CCHD-related mortality rates, it is crucial to enhance prenatal diagnosis rates and promote widespread screening for neonatal CCHD.

Correlation of gestational age and age at death in sudden infant death syndrome: another pointer to the role of critical developmental period?

BACKGROUND: Filiano and Kinney proposed a triple-risk model for the sudden infant death syndrome (SIDS) that involves the intersection of three risks: (1) a vulnerable infant, (2) a critical developmental period in homeostatic control, and (3) an exogenous stressor(s). The primary evidence for the role of a critical developmental period in SIDS etiology is the peak of cases around the third month of life. Independently, several studies pointed to correlation between gestational age and age at death in SIDS, but used that to assess the SIDS risk for preterm infants, ignoring further ramifications. METHODS: We did a detailed analysis of CDC data spanning over two decades (1983-2011). We focused not only on the correlation between two age variables (gestational and age at death), but also on the possibility of misdiagnosis. Also, we attempted to account for potential biases in the data induced by the ICD-9/ICD-190 transition or the "Back to Sleep" campaign. RESULTS: The peak of deaths in the third month of life, that was the main argument for the role of the critical development period, wasn't unique to SIDS. However, we confirmed an almost linear and negative correlation between gestational age and the week of death due to SIDS. This pattern (slope of correlation < 0 and significance of correlation p < 0.05) is characteristic of SIDS among all diseases analyzed in the study. CONCLUSIONS: We interpret the results as the evidence of the role of the critical development period in SIDS etiology. Possibly more attention in the future research should be put to theories that are based on homeostatic control.

Preterm infants experience a nadir in cerebral oxygenation during sleep three months after hospital discharge.

AIM: Preterm infants are at increased risk of Sudden Infant Death Syndrome (SIDS) and frequently experience short central apnoeas which can occur in isolation or a repetitive pattern (periodic breathing). We investigated the relationship between central apnoeas experienced before and over the 6 months after hospital discharge and cerebral oxygenation. METHODS: Preterm infants born between 28 and 32 weeks gestational age (GA) were studied during supine daytime sleep at 32-36 weeks post menstrual age (PMA) (n = 40), 36-40 weeks PMA (n = 27), 3-months corrected age (CA) (n = 20) and 6-months CA (n = 26). Cerebral tissue oxygenation (TOI), peripheral oxygenation (SpO2) and heart rate were recorded continuously. The percentage total sleep time (%TST) spent having central apnoeas at each study and cerebral fractional oxygen extraction (SpO2-TOI/SpO2) were calculated. RESULTS: %TST spent with central apnoeas decreased with increasing age in both active sleep (AS) and quiet sleep (QS). TOI tended to be lower and cerebral fractional oxygen extraction higher at 3 months compared to the other studies and this reached statistical significance compared to 32-36 weeks in QS. CONCLUSION: The nadir in cerebral tissue oxygenation at 3 months of age coincides with the peak risk period for SIDS and this may contribute to increased risk in these infants.

Higher awakening threshold of preterm infants in prone position may be a risk factor for SIDS.

AIM: The supine sleeping position in the prevention of sudden infant death syndrome in preterm infants is poorly understood. We aimed to investigate the effect of sleep posture on cardiorespiratory parameters and movement patterns in preterm infants close to discharge. METHODS: This observational study included neonates born in 2022 at the University Hospital Schleswig-Holstein, Lübeck, Germany. Motion sensor data, heart rate, respiratory rate and oxygen saturation were recorded for infants with postconceptional age 35-37 weeks during sleep in the prone and supine positions. RESULTS: We recorded data from 50 infants, born at 31 (24-35) weeks of gestation (mean(range)), aged 5.2 ± 3.7 weeks (mean ± SD), of whom 48% were female. Five typical movement patterns were identified. In the prone position, the percentage of calm, regular breathing was higher and active movement was less frequent when compared to the supine position. The percentage of calm irregular breathing, number of apnoeas, bradycardias, desaturations and vital sign changes were not influenced by position. CONCLUSION: The prone position seems to be associated with a higher arousal threshold. The supine position appears advantageous for escape from life-threatening situations such as sudden infant death syndrome.

Understanding the immune profile of sudden infant death syndrome - proteomic perspectives.

AIM: The aim of this study was to investigate a panel of immune proteins in cases of sudden infant death syndrome (SIDS). It was hypothesised that, in at least a subset of SIDS, a dysregulated immune response may be a contributing factor leading to death. METHODS: The subjects included 46 SIDS cases and 41 controls autopsied at the Department of Forensic Sciences, Norway. The causes of death in the controls were accidents/trauma. Samples of cerebrospinal fluid (CSF) were analysed quantitatively by Proximity Extension Assay (PEA). RESULTS: Initial results revealed that normalised protein expression differed in 35 proteins. For the purposes of this report five proteins that are involved in immune system were selected for analysis: IFNLR1 (p = 0.003), IL10 (p = 0.007), IRAK4 (p < 0.001) and IL6 (p = 0.035); all had lower protein concentrations in SIDS cases compared to controls except for CD28 (p = 0.024) which had higher protein concentrations in SIDS cases. CONCLUSION: The results confirm previous studies indicating that a dysregulation of the immune system may be a predisposing factor for SIDS. The results may indicate that these aberrant protein concentrations could lead to an inadequate response to immune triggers and uncontrolled defence mechanisms towards the common cold or other non-fatal infections.

Promoting Safe Sleep: The Role of Doulas in Black Communities.

BACKGROUND: Accidental suffocation and strangulation in bed continues to be a critical issue in Black communities, despite the widespread initiatives to promote safe sleep. Doulas are in an ideal position to promote safe sleep, particularly in hard-to-reach communities that are more distrusting of conventional medical providers. Little is known about their practices and perspectives for putting infants down to rest. This study informs this gap in the literature. PURPOSE: The purpose of this study was to explore doulas' perspectives and practices in the field of putting infants down to sleep. The researchers aimed to determine whether Black caregivers that work with doulas are likely to encounter safe sleep education. METHODS: The researchers used a descriptive approach to inquiry. They conducted three focus groups with a total of 17 Black doulas. The researchers independently and critically reviewed the transcriptions and observation notes from each group to identify codes. They then triangulated the results using Artificial Intelligence-driven tools. FINDINGS: The study found four themes: (1) Individualized Services, (2) Cultural Sensitivity, (3) Negotiating Safety, and (4) Safe Sleep Education. CONCLUSIONS: The study concluded doulas have a commitment to promoting safe sleep. The researchers found that doulas engage in practices that help caregivers to integrate safe sleep practices into their lifestyle and to adapt them to meet their needs. The researchers also documented a desire for more information and instruction on safe sleep among practicing doulas.

Promoting infant safe sleep practices among neonatal and paediatric nurses through simulation-based training program.

PURPOSE: To evaluate the effect of a Simulation-based training (SBT) program on neonatal and paediatric nurses' knowledge regarding infant safe sleep practices. BACKGROUND: Sudden infant death syndrome (SIDS) presents a major public health concern, preventable through the promotion of optimal safe sleep practices, particularly among neonatal and paediatric nurses. Despite its effectiveness in enhancing nurses' knowledge and clinical skills, SBT is not an adopted training method for nurses in Egypt. DESIGN AND METHODS: A single-group pre- and post-test design involved 57 nurses from Neonatal Intensive Care Unit, Paediatric Intensive Care Unit, and Paediatric In-patient Unit. The study consisted of two stages. In the first stage, knowledge assessment to identify deficiencies. The second stage, researchers developed four SBT scenarios. Two of these scenarios were recorded for training purposes, while the other two were intended for nurses to actively participate in. Data were collected from May 2022 to January 2023. RESULTS: A significant improvement in nurses' knowledge of infant safe sleep practices and SIDS prevention was observed (p = 0.000). Nurses expressed high satisfaction with the training program (mean score 45.035 ± 4.38). CONCLUSION: This study provides evidence that simulation-based training is an effective approach to promoting safe infant sleep practices among neonatal and paediatric nurses. PRACTICE IMPLICATIONS: Integrating SBT programs into nursing education can enhance nurses' knowledge and skills in infant-safe sleep practices, providing a realistic and interactive learning experience.

Implementing a Safe Sleep Shelter and Baby Bundle Kit Distribution Program.

The Georgia Department of Public Health developed the Safe Sleep Shelter Program to expand Georgia Safe to Sleep campaign efforts. The program focused on engaging with housing support agencies, homeless shelters, and domestic violence shelters. The program offered a menu of resources that agencies could choose from, including portable cribs for agency use and distribution to families, safe sleep education for staff, assistance with creating/updating agency safe sleep policies, and Baby Bundle Safe Sleep kits with education and resources for families. The program showed promising results: 44 agencies across the state applied, serving an estimated 20,950 individuals annually. Agencies expressed strong interest in expanding safe sleep education and resources for the families they served. Most agencies reported that the program filled gaps in services, including having enough cribs to meet demand and limited safe sleep education and resources. Agencies reported that parents appreciated the cribs and Baby Bundle Safe Sleep kits as most did not have money to purchase an infant sleep surface. Agencies reported that the resources provided new information to infant parents, facilitated discussion, and reinforced safe sleep messaging. Evaluation challenges included difficulties collecting distribution data and a low response rate for parent surveys. Implications are discussed for others interested in implementing such a program, including to develop processes for communicating updated recommendations, leverage existing relationships to engage additional agencies, evaluate efforts to refine program components, and consider strategies to increase parent survey response rates.

Added value of postmortem mri in sudden unexpected infant death cases.

We aimed to investigate the potential added value of postmortem MRI (PMMRI) in sudden unexpected infant death (SUID) cases referred to our center between September 2020 and June 2023. Ultimately, 19 SUID cases underwent PMMRI alongside standard autopsy procedures, which included technical examinations such as postmortem CT (PMCT). Four radiologists, two with prior PMMRI experience, provided structured reports following consensus. For each case, the responsible forensic medicine specialist documented the cause of death before and after reviewing the PMMRI report. Additionally, they assessed the overall impact of the PMMRI report and had the opportunity to provide written comments. The results of our study indicate that none of the PMMRI reports altered the prior determined cause of death, which included cases of infection, asphyxia, and sudden infant death syndrome (SIDS). However, we observed a moderate impact in one case and a low impact in 10 cases. The moderate impact arose from the PMMRI report identifying hypoxic-ischemic changes, where histologic examination of the brain was perceived as normal. Conversely, in the 10 cases with a low impact, the PMMRI reports supported the autopsy findings, specifically indicating brain injury and intra-alveolar cellular infiltrates. In conclusion, our study suggests that while PMMRI may not be pivotal in determining the cause of death in SUID cases, it could aid in detecting hypoxic-ischemic changes and reinforcing brain and lung observations. However, distinguishing genuine lung pathology from postmortem changes using PMMRI remains challenging. Further research is warranted to clarify the role of PMMRI in forensic SUID investigations.

The role of alcohol in infant cosleeping deaths.

The well-established epidemiological and neuropathological differences between infants who die alone compared to those in shared sleeping environments indicate that these cohorts have differences. Risk factors in both situations depend on both exogenous and endogenous factors. Although parental consumption of alcohol continues to be cited as a risk factor for sudden infant death syndrome (SIDS) it is difficult to understand how a substance which impairs parental consciousness rather than infant arousal could contribute to SIDS. Surely a more logical mechanism to explain these deaths would be suffocation by a sedated adult rather than evoking predisposing factors for SIDS.

Does citing early SIDS research skew contemporary conclusions?

Research on infants who have allegedly succumbed to sudden infant death syndrome (SIDS) has been of variable quality over the years. Even now peer-reviewed papers are being published on cases termed 'SIDS' without autopsies having been performed, despite this being a requirement of the three major definitions for over five decades. Clearly cases used in earlier research studies could not have complied with the requirements of as-yet unpublished definitions/guidelines. For this reason care must be taken in citing initial papers as their results may have been skewed by the presence of non-SIDS cases. This may have particular relevance for meta analyses. Reviewing the literature on substance P and its relationship to SIDS provides an excellent example of how diametrically opposed conclusions were reached at different time points. Early studies on SIDS, and studies that use cases that were classified before the standard NICHD and San Diego definitions, should, therefore, be approached with a degree of scepticism and not cited in contemporary papers or at meetings as they have the potential to confuse rather than clarify.

Supporting Bereaved Family Members: A Qualitative Interview Study on the Experience of Bereavement Counselling by the Bereavement Network Lower Saxony (BNLS) in Germany for Parents Who Have Lost Children or Teenagers.

The "Trauer Netzwerk Niedersachsen" ("Bereavement Network Lower Saxony" (BNLS)) aims at supporting families after the loss of a child or teenager due to various causes. This study aims to describe the experiences of bereaved family members with the BNLS counsellors. 12 semi-structured interviews were conducted with parents who had received or were currently receiving BNLS counselling. The interviews revealed the vital role counselling played aiding individuals cope with their grief. Participants valued the bereavement support, which was often lacking in their personal support networks. Counselling assisted parents in returning to daily life and caring for loved ones. Discussing "death" and "dying" helped participants find peace with their loss. Our findings suggest that bereavement counselling should be considered an essential component of healthcare for family members dealing with the loss of a child. Additionally, there is need for awareness and publicity for both the BNLS and its bereavement counselling services.

Factors Involved in Posttraumatic Growth in Mothers Experiencing Fetal and Infant Death.

Factors associated with posttraumatic growth (PTG) are investigated in mothers who have suffered fetal or infant death. Mothers (N = 66) completed the Posttraumatic Growth Inventory (PTGI; Tedeschi & Calhoun, 1996), the Core Beliefs Inventory (CBI; Cann et al., 2010), and answered questions about the severity of their loss, age of fetus or infant, time since loss, social support, finding meaning, and involvement in loss-related behavior. Results indicate a greatly traumatic loss (M = 4.41), a great degree of core belief disruption (M = 3.57), and a moderate level of PTG (M = 2.80). CBI scores are positively correlated with severity of the loss and age of the fetus or infant. PTGI scores are positively related to CBI scores and to social support from family and friends who have suffered similar losses and support groups. PTG and finding meaning are positively correlated with involvement in loss-related activities and supporting others.