Sudden Infant Death Research Articles

Factors in Infancy That May Predict Autism Spectrum Disorder.

The global increase in the prevalence of ASD (Autism Spectrum Disorder) is of great medical importance, but the reasons for this increase are still unknown. This study sought to identify possible early contributing factors in children who were later diagnosed with ASD. In this retrospective cohort study, postnatal records of 1105 children diagnosed with ASD were analyzed to determine if any signs of ASD could be found in a large database of births and well-baby care programs. We compared the recordings of typically developing children and analyzed the differences statistically. Rapid increases in weight, height, and head circumference during early infancy predict the development of ASD. In addition, low birth weight, older maternal age, and increased weight and height percentiles at six months of age together predict the development of ASD. At two years of age, these four parameters, in addition to impaired motor development, can also predict the development of ASD. These results suggest that the recent increase in ASD prevalence is associated with the "obesity epidemic" and with recommendations of supine sleeping to prevent Sudden Infant Death Syndrome, associated with atypical neural network development in the brain.

Dick van Velzen and the Burnside warehouse organ scandal in Nova Scotia, Canada.

Dick van Velzen practiced as a pediatric pathologist at Alder Hey Children's Hospital in Liverpool, England from September 1988 until December 1995; he then relocated to the IWK-Grace Health Centre, a children's and maternity hospital in Halifax, Nova Scotia, Canada, where he practiced until he was fired for cause in January 1998. About a year and a half later, his practice in Liverpool came under increasing scrutiny, with the initial focus on the massive collection of post-mortem pediatric organs he had accumulated for planned future research on sudden infant death syndrome. Soon, a Parliamentary Inquiry began investigating the full scope of his Liverpool practice. During the Inquiry, another organ-hoarding scandal erupted; van Velzen, when leaving Halifax after his dismissal, had put his family's personal belongings into a storage facility at Burnside Industrial Park and then did not pay bills. As his belongings were being prepared for auction, formalin-fixed organs were found, and a Canada-wide arrest warrant for disrespect for human remains was issued by the Halifax Police. While the Alder Hey scandal resulted in a 535-page-long Parliamentary Report and the Human Tissue Act, van Velzen was never charged criminally in the UK. The largely unknown story of his second organ scandal in Halifax, is related here. Although he had obtained the body parts with the consent of the parents of the child to which they had belonged, his failure to properly identify and store them traumatized parents already impacted by his organ-hoarding in the UK, traumatized additional parents in Halifax, and resulted in significant waste of public resources in investigating the case. He pled guilty to "indignity to a human body" in Canada and was fined and placed on 12 months' probation.

Trends and Factors Associated With Mortality Rates of Leading Causes of Infant Death: A CDC Wide-Ranging Online Data for Epidemiologic Research (CDC WONDER) Database Analysis.

Infant mortality is a critical indicator of a nation's healthcare system and social well-being. This study explores trends and factors associated with mortality rates for three leading causes of infant death: congenital malformations, deformations, and chromosomal abnormalities; disorders related to short gestation and low birth weight, not elsewhere classified; and sudden infant death syndrome (SIDS). Utilizing the CDC WONDER (CDC Wide-Ranging Online Data for Epidemiologic Research) database, we conducted a retrospective observational analysis of infant mortality rates and associated factors. Data encompassed multiple years, allowing for trend analysis and exploration of influencing variables. Study variables included demographic, maternal, prenatal, and leading cause as factors. Trends in infant mortality rates varied across causes. The overall mortality rate was 2.69 per 1,000 (p=0.000) people during 2007-2020. The highest rates were observed in 2007 (3.05), 2008 (3.01), and 2009 (2.93) per 1,000 infants. For congenital malformations, deformations, and chromosomal abnormalities, the rate ranged from 1.35 to 1.12 (2007-2020). Gender-based mortality differences were subtle (male rate 2.88 per 1,000 infants, p=0.000; female infants 2.50 per 1,000 infants, p=0.000). The examination of infant mortality trends also explored maternal variables, including maternal age, education, and delivery method. The analysis revealed disparities across variables. Teenage maternal age correlated with higher mortality rates, while maternal education was associated with lower rates. Vaginal delivery (2.61 per 1,000 infants, p=0.199) showed slightly lower rates compared to cesarean section (2.86 per 1,000 infants, p=0.076). This study utilizes the CDC WONDER database and offers evidence of changing trends in infant mortality rates for the selected causes. Factors such as maternal age (30-34 years and 35-39 years), race/ethnicity (Black or African-American and White), birthplace (in hospital), and mother's education (master's degree) were identified as influencing mortality rates. These findings contribute to informed policymaking and interventions aimed at mitigating infant mortality and improving the well-being of infants and their families. Further research is needed to fully understand the underlying dynamics of these trends and factors.

Assessment of mothers' awareness of sudden infant death syndrome and safe infant sleep practices in Palestine

ObjectiveOne of the major public health mysteries around the world is a subcategory of infant sleep-related deaths of unknown etiology termed Sudden Infant Death Syndrome (SIDS) which is a common leading cause of infant mortality worldwide and targets infants under a year of age while sleeping. Sleep environment plays a significant role in the risk of SIDS, mothers actions for creating safe infant sleep practices play a protective role in reducing SIDS occurrence. The knowledge gap centered on SIDS is not adequately researched or investigated in Palestine. Correspondingly, the study aims to assess mothers' awareness of SIDS and safe infant sleep practices. MethodsA cross-sectional quantitative design was used. A self-reported questionnaire containing 30 items was distributed to childbearing mothers in various rural and urban areas in Palestine. The 1116 participants were selected based on a non-probability, convenience method in duration from April 1st, 2023 to June 19th, 2023. ResultThe data were analyzed through the SPSS program version 20; specifically, one-way ANOVA, independent sample T-tests, and Pearson's correlation test. The mother's total awareness and practice scores were coded into two categories: 1 signifying poor awareness or practice, and 2 signifying good awareness or practice. The mean total awareness was calculated to be 1.444, while the standard deviation came out to 0.497. The mean total practice was calculated to be 8.0789, while the standard deviation came out to 2.223. To further elaborate, 55.6% of the mothers showed poor awareness regarding SIDS. Moreover, 84.5% of the mothers revealed they had poor practices regarding safe infant sleep practices. ConclusionThe study displayed a positive-moderate correlation between the mothers' awareness and practices. Specifically, mothers’ had poor awareness in addition to poor practices.

Molecular Diagnosis of COVID-19 Sudden and Unexplained Deaths: The Insidious Face of the Pandemic.

The COVID-19 epidemic has led to a significant increase in the number of deaths. This has resulted in forensic autopsies focusing on additional diagnostic possibilities. The following article is a summary of 23 autopsies of sudden and unexplained deaths. Particularly noteworthy are the described cases of children whose deaths were originally classified as SIDS (sudden infant death syndrome). All tests were performed at the Department of Forensic Medicine and Forensic Genetics, Pomeranian Medical University in Szczecin. Autopsy analyses were extended to include diagnostics of the SARS-CoV-2 virus using molecular methods and a detailed histopathological analysis of lung tissue. The material for molecular tests consisted of a nasopharyngeal swab taken postmortem and a lung tissue homogenate. In both cases, the RT-PCR method with CT cut-off point analysis was used for diagnosis. In all analyzed cases, the lungs showed massive congestion and increased fragility and cohesion. The tested material showed the presence of the SARS-CoV-2 virus, which indicated various stages of infection. It was observed that the higher the virus expression in the lungs, the lower or undetectable it was in the nasopharyngeal swab. This may explain false negative results during life in swabs. An interesting finding is that child deaths classified as SIDS also showed the presence of the virus. This may constitute a new direction of research.

Parental Knowledge and Perceptions on Prevention of Sudden Unexpected Infant Death and Infant Care.

(1) Background: The study's purpose was to explore the knowledge, perceptions, and confidence of mothers about infant care to reduce the risk of sudden unexpected infant death. (2) Methods: A purposeful sampling method was used to recruit 15 first-time mothers from Georgia with infants under 1 year of age. The researchers utilized the Socio-ecological model to report the results. Participants also provided recommendations on how to improve infant care and reduce the risk of SUID. (3) Results: The confidence level of infant care among most participants was low but increased over time. Mothers' knowledge level about the prevention of SUID was high, but poor emotional health could hurt their parental abilities. Most participants recognized medical providers as the main source of reliable information. However, a lack of emotional and physical support was reported by mothers. (4) Conclusions: Results suggested that a more holistic approach to infant care is needed. The healthcare system and communities should provide more physical, social, and mental support to first-time mothers, a consolidated approach to care before and after birth, and easy access to services at all stages of the process to reduce the risk of SUID.

What altitude is safe for infants? An expert panel survey

AimTo assess advice given to parents who wish to travel to high altitudes with an infant and to provide guidance on this topic. MethodUsing an anonymous self-report survey online, we collected information on the advice provided by practitioners, who practice in mountain environments, to parents who wish to travel to altitude with an infant. General practitioners and pediatricians working in the French Alps were asked about the maximum allowable altitude for different ages and the specific recommendations given. ResultsA total of 104 practitioners (39% general practitioners) responded to the study. Overall, to spend 1 day at altitude, practitioners recommended a median altitude of 1200, 1500, 1600, and 2000 m for infants under 1, 3, 12, and 24 months, respectively. Their main recommendations for infant protection focused on cold protection, increased hydration, and increased humidity level in the ambient air. Prevention of sudden infant death syndrome was essential according to the respondents. For infants with upper airway infection, most of the participants (90%, n = 94) recommended against traveling to altitude. ConclusionThis survey revealed a certain consensus about the maximum travel altitude to be recommended for infants.

Age-related cytokine imbalance in the thymus in sudden infant death syndrome (SIDS)

BackgroundSudden infant death syndrome (SIDS) has been considered to be triggered by a combination of underlying immune dysregulation and infections. The thymus is a crucial lymphatic organ responsible for T cell development in infancy. We hypothesized that an altered thymic immune status may be detectable by intrathymic cytokine profiling in SIDS.Methods27 cytokines in protein lysates of thymus tissue and thymus weights were assessed in 26 SIDS cases and 16 infants who died of other reasons.ResultsSeventeen out of 27 cytokines were increased in thymic tissue of SIDS compared to controls without infections, and the most significant discrepancy was in infants younger than 20 weeks. The thymic cytokine profiles in SIDS cases were similar to those in controls with severe infection; however, the magnitude of the cytokine concentration elevation in SIDS was less pronounced, indicating sub-clinical infections in SIDS. In contrast to SIDS, intrathymic cytokine concentrations and thymus weight were increased with age in control children.ConclusionsElevated thymic cytokine expression and thymus weight, as well as impaired age-related alterations in SIDS, may be influenced by subclinical infection, which may play a role in initiating SIDS in infants with a compromised immune response.Impact StatementIncreased thymic weight and cytokine concentration may suggest possible subclinical infection in SIDS.Elevated thymic weight and cytokine concentration mainly in SIDS cases aged <20 weeks.Age-related impairment in the thymic weight and cytokine expression may be impaired by subclinical infection in SIDS.

Perception of pacifier use among caregivers of infants 0-1 years of age.

American Academy of Pediatrics approves pacifier use for soothing and calming; it recommends delaying its use until breastfeeding is well established. Though pacifiers have protective effects against sudden infant death syndrome, prolonged use of a pacifier can lead to complications. American Academy of Family Physicians discourages the use by 6 months to 1 year of age. Pacifier use guidelines are not established primarily due to a paucity of information regarding initiation, termination, benefits, and harmful effects of pacifiers by parents. We aim to investigate pacifier use among caregivers of 0-1-year-old infants. It was a descriptive study of parents or caregivers of children 0-1 year of age who completed a questionnaire focused on pacifier use. Statistical analysis was calculated using SPSS version 23. One hundred thirty-three caregivers were interviewed. One hundred eighteen (88.7%) caregivers were mothers. Ninety-one (68.4%) of caregivers identified as Hispanic and 42 (30.1%) as African American. Caregivers reported that mean pacifier use was 16 months and 3.4 h/day. One hundred six (80%) reported the most common use of the pacifier alone was to calm the baby. For the weaning method, 37 (27.8%) stated that gradual decrease of pacifiers was useful whereas 33 (24.8%) stated that abrupt removal of pacifiers was effective. Seventy-two (54.1%) reported that their family and friends recommended pacifiers. Eleven (8.3%) caregivers reported that information about pacifiers was provided by medical and day-care providers. Pacifier use was not significantly related to the feeding method during the first 2 months of life. This study identifies impressions and common misconceptions of pacifier use which may assist in the development of comprehensive guidelines.

Yield of Postmortem Skeletal Surveys in Infants Presenting to Emergency Care With Sudden and Unexpected Death.

Child abuse should be considered in cases of sudden unexpected infant death (SUID). Postmortem skeletal surveys (PM-SS) are recommended to evaluate for abusive fractures in SUID. Little is known about the yield of PM-SS among infants presenting to emergency care with SUID. Our objectives were to (1) describe the presentation and care of infants with SUID at a tertiary children's hospital emergency department and (2) report PM-SS use and findings. We performed a retrospective study of infants younger than 12 months with SUID presenting to an urban emergency department from 2007 to 2019. We describe their presentation and care, including PM-SS performance and findings, referrals to the medical examiner, and reports to child protective services (CPS). We assessed for associations between race, payer, and presentation with reports to CPS. Of 73 infants with SUID, concern for unsafe sleep was documented in 45 (61.6%) and 71 (97.3%) underwent cardiopulmonary resuscitation by a medical professional. All 73 (100%) underwent PM-SS and were referred to the medical examiner. Twelve definite fractures (11 rib, 1 classic metaphyseal lesion) and 8 possible fractures (7 rib, 1 classic metaphyseal lesion) were identified among 6 (8.2%) infants. Forty-three (58.9%) were reported to CPS. There were no associations between race, payer, age, or history of unsafe sleep and CPS reports. One in 12 cases of SUID had a possible and/or definite fracture identified on plain radiography. Multicenter studies are needed to compare yield across different postmortem imaging modalities and populations.

A Wearable Device Integrated with Deep Learning‐Based Algorithms for the Analysis of Breath Patterns

Sleep problems are serious issues that make life difficult for all people, including sleep apnea. Sleep apnea, which causes breathlessness for more than 10 s, is linked to severe health problems due to the serious damage it can induce. To mitigate the risk of these disorders, the monitoring of patients has become increasingly challenging. Wearable technologies offer an effective healthcare solution for remote patient monitoring and diagnosis. A novel wearable system based on Arduino technology is introduced, specifically designed to monitor the breath patterns of patients. The analysis of breath data from patients holds great importance for the diagnosis and continuous monitoring of sleep apnea. To address this need, an advanced image processing system based on deep learning techniques is presented. This system automatically detects respiratory patterns, including inhalation, exhalation, and breathlessness. The device has an average of 97.6% sensitivity, 79.7% specificity, and 96% accuracy in identifying breath patterns. The designed device can offer patients and healthcare institutions a simple, inexpensive, noninvasive, and ergonomic system for the analysis of breath patterns that can be further extended for sleep apnea diagnosis.

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.

Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. Methods and Results Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype-phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respectively; P=0.03), whereas novel/ultra-rare variants of uncertain significance were comparably represented. Rare variants of uncertain significance and likely benign variants were found only in SIDS. In cases with expanded analyses, likely pathogenic/likely benign variants stemmed only from definitive-evidence genes, whereas all other genes contributed only variants of uncertain significance. Among 24 parents screened, variant status and phenotype largely agreed, and 3 cases positively correlated for cardiac channelopathies. Genotype-phenotype correlations significantly aided variant adjudication. Conclusions Genetic yield is higher in SUDC than in SIDS although, in both, it is contributed only by definitive-evidence genes. SIDS/SUDC cascade family screening facilitates establishment or dismissal of a diagnosis through definitive variant adjudication indicating that anonymity is no longer justifiable. Channelopathies may underlie a relevant fraction of SUDC. Binary classifications of genetic causality (pathogenic versus benign) could not always be adequate.

Prenatal nicotine exposure during pregnancy results in adverse neurodevelopmental alterations and neurobehavioral deficits.

Maternal tobacco use and nicotine exposure during pregnancy have been associated with adverse birth outcomes in infants and can lead to preventable pregnancy complications. Exposure to nicotine and other compounds in tobacco and electronic cigarettes (e-cigarettes) has been shown to increases the risk of miscarriage, prematurity, stillbirth, low birth weight, perinatal morbidity, and sudden infant death syndrome (SIDS). Additionally, recent data provided by clinical and pre-clinical research demonstrates that nicotine exposure during pregnancy may heighten the risk for adverse neurodevelopmental disorders such as Attention-Deficit Hyperactivity (ADHD), anxiety, and depression along with altering the infants underlying brain circuitry, response to neurotransmitters, and brain volume. In the United States, one in 14 women (7.2%) reported to have smoked cigarettes during their pregnancy with the global prevalence of smoking during pregnancy estimated to be 1.7%. Approximately 1.1% of women in the United States also reported to have used e-cigarettes during the last 3months of pregnancy. Due to the large percentage of women utilizing nicotine products during pregnancy in the United States and globally, this review seeks to centralize pre-clinical and clinical studies focused on the neurobehavioral and neurodevelopmental complications associated with prenatal nicotine exposure (PNE) such as alterations to the hypothalamic-pituitary-adrenal (HPA) axis and brain regions such as the prefrontal cortex (PFC), ventral tegmental area (VTA), nucleus accumbens (NA), hippocampus, and caudate as well as changes to nAChR and cholinergic receptor signaling, long-term drug seeking behavior following PNE, and other related developmental disorders. Current literature analyzing the association between PNE and the risk for offspring developing schizophrenia, attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety, and obesity will also be discussed.

Handle with Care: A Narrative Review of Infant Safe Sleep Practices across Clinical Guidelines and Social Media to Reduce SIDS.

Sudden Infant Death Syndrome (SIDS) is a leading cause of infant mortality across the United States and the world. There are multiple environmental and behavioral determinants of sudden infant death which are modifiable risk factors and potential targets for intervention. In this increasingly digital era, health education and communication on SIDS have taken many forms, which extend to social media. Current published studies on coverage of infant safe sleep practices are scant and were published well before the newly revised guidelines of the American Academy of Pediatrics that review ways to prevent infant sleep-related deaths based on evidence-based SIDS-reduction measures. In this Perspective: Review of a Pediatric Field, the current state of published knowledge and coverage on a range of infant safe sleep considerations across social media are reviewed. We delineate gaps in the knowledge and practice as well as the central differences between the 2016 and 2022 AAP Safe Sleep guidelines. We also present recommendations for further research and practice which support coverage of future content on the revised guidelines across social media as the basis to present the most up-to-date and evidence-based information for reducing sudden infant death from sleep-related causes. Tapping into the potential of social media as a learning modality in health promotion also contributes towards the larger goal of the World Health Organization, United Nations International Children's Emergency Fund (UNICEF), and Healthy People 2030 to reduce infant mortality on both global and national levels.

UKRAINIAN ACADEMY OF PEDIATRIC SPECIALTIES (UAPS) EUROPEAN SLEEP MEDICINE AND NEUROPHYSIOLOGY ASSOCIATION (ESMANA) STATEMENT OF THE ON SAFE SLEEP AS A PRIORITY ISSUE IN THE PREVENTION OF SUDDEN INFANT DEATH SYNDROME

Sudden infant death syndrome (SIDS) remains a pressing issue worldwide, with a significant number of cases occurring within the first six months of life. Many of these tragedies can be prevented by adhering to safe sleep guidelines. The effectiveness of large-scale educational programs focusing on these guidelines has been well-documented in developed countries, resulting in the saving of thousands of children's lives.In Ukraine, there are currently no national guidelines for the prevention of SIDS. To address this gap, we have compiled modern guidelines from other countries such as the USA, Great Britain, and Germany, along with the latest research data, to develop recommendations for safe sleep practices for children under one year of age. These recommendations cover various aspects, including the recommended sleep position (on the back), requirements for the sleeping surface and crib, suggestions for safe co-sleeping, and guidelines for maintaining an appropriate temperature. We also provide information on the beneficial effects of breastfeeding and vaccination in preventing SIDS, as well as the increased risks associated with overheating, the presence of soft objects near a sleeping child, and parental smoking and alcohol consumption.These recommendations should be disseminated to both parents and healthcare professionals involved in infant care.

Maternal near miss as a predictor of nursing diagnoses in critically ill newborns in intensive care

The aim of the present study was to analyze maternal near miss as a predictor of the Nursing Diagnoses of critically ill newborns admitted to intensive care. This cross-sectional, retrospective study was carried out by analyzing the medical records of mothers and their newborns born in a University Hospital and admitted to the Neonatal Intensive Care Unit in the period from January 2007 to December 2016. Newborn infants weighing less than 500 grams and with gestational age less than 22 weeks were excluded. Initially, mothers presenting maternal near miss criteria were identified. Subsequently, the newborns’ diagnoses were surveyed by screening their medical records for possible diagnostic indicators, carried out through the identification of defining characteristics and related or risk factors according to the Taxonomy of the North American Nursing Diagnosis Association (NANDA-I). Data referring to 47 diagnoses of 272 children were collected. A logistic regression model was used to assess whether the diagnosis of maternal near miss, present in 28 mothers, predicted each of the children’s diagnoses. The results suggest that the diagnosis of maternal near miss acts as a predictor of 12 diagnoses in newborns: Impaired Skin Integrity, Risk for Disproportionate Growth, Risk of Developmental Delay, Risk of Thermal Injury, Risk of Vascular Trauma, Risk of Infection, Risk of Hypothermia, Risk of Sudden Infant Death, Hypothermia, Risk of Aspiration, Risk of Damaged Oral Mucosa, and Risk of Unstable Blood Glucose.

Awareness of sudden infant death syndrome and its associated risk factors among Saudi mothers attending well-baby clinics at PHC, PSMMC, Riyadh, Saudi Arabia: A cross-sectional study.

Sudden infant death syndrome (SIDS) is a leading cause of infant mortality all over the world. Mortality due to SIDS can be averted by educating families and caretakers about safe practices for putting infants to sleep. However, the knowledge, attitude, and practices of mothers while putting the infant to sleep is a gray areas in literature. The objectives of the study were to measure the knowledge and awareness about SIDS and its associated risk factors practiced among Saudi mothers attending well-baby clinics in Saudi Arabia to develop appropriate educational program-based interventions for safe practices of infant care. This cross-sectional study was carried out among 385 mothers attending well-baby clinics of primary health care (PHC) and prince sultan military medical city (PSMMC) in Riyadh Saudi Arabia. Information was captured on sociodemographic characteristics, the health status of mothers and infants, knowledge, attitude, and practice followed by mothers while putting infants to sleep. From a total number of 385 responses, 350 participants were eventually included in the final sample due to the incompletion of the questionnaire of 350 mothers; only 26% (n = 93) mothers had heard of SIDS. However, 259 mothers were willing to attend the awareness session. Only 94 mothers had knowledge as well as practicing the correct behavior of putting the infant to sleep on the back referred to as "good behavior concordant pairs." Similarly, other good practices include not co-sharing a bed with the infant, removing pillows, blankets, and other wedged objects, using a pacifier, breastfeeding the infant during sleep, not using multiple quilts, not covering the infant's head with a quilt, not using a head cap. The number of good behavior concordant pairs (in green) were 124, 38, 56, 98, 18, 117, and 68 respectively. The rate of knowledge and practice for good behavior regarding SIDS was low among Saudi mothers in Riyadh Saudi Arabia. SIDS-related deaths can be averted by improving the understanding of SIDS risk reduction practices among mothers by using health promotion strategies.

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

ABSTRACT Infant mortality rates are quite high even in developed countries; in the United States, infant deaths occur approximately 1 in 200 live births. The leading cause of infant mortality is congenital malformation or chromosomal abnormality, which cause roughly 20% of infant deaths, followed by other causes such as pregnancy complications, preterm birth or low birth weight, and sudden infant death syndrome. Improvements in treatments for certain conditions such as pregnancy complications or prematurity have previously resulted in a reduction in mortality due to these causes. Although the same may be true of congenital malformations or chromosomal abnormalities, the relationship between these factors and infant mortality has not been closely examined. Previous studies have largely been retrospective in nature and varied greatly among method and records used, perpetuating inaccuracies and imprecision. This study aimed to clarify and add to previous literature by examining the relationship between single-locus genetic disease (Mendelian genetic disease) and overall infant mortality. This study applied diagnostic whole-genome sequencing (WGS) to infants in intensive care to diagnose diseases of unknown etiology in a single hospital system between 2015 and 2020. The study was retrospective and included review of medical records and death certificates, as well as results from WGS. Where possible, WGS information was obtained on living infants and their parents, and where that was not possible, it was obtained postmortem. Death certificates and causes of death were also examined and compared with WGS results. In the final sample, 112 infants who died underwent WGS either premortem or postmortem. WGS identified genetic diseases in 46 (41%) of these infants. Of the genetic diseases identified, 83% had previous evidence supporting an association with childhood mortality, and evidence was gathered from previous literature that could improve outcomes for 30%. Death certificate comparisons showed that of 45 infants where WGS showed underlying genetic disease, 62% were not reported on the certificate or attributed to the cause of death. In addition to the 112 infants who died, the study population included 434 infants who survived and also had WGS performed. No significant differences were found between the groups in sex, race, or ethnicity. Types of genetic disease varied between infants who died and those who survived, with only 4% being found in both. Certain diseases were more likely to occur in infants who survived, and others were more likely to occur in infants who died. Specific etiology had some prognostic value, positively predicting either death or survival. These results indicate that first, after examination of WGS in comparison with death certificates, genetic diseases are chronically underreported. In addition, WGS showed that etiology of leading causes of infant mortality could be fundamentally different than previously thought. WGS is also not currently a widespread treatment, and although steps are being taken to make it more widely accessible, there are still many changes that need to be made. This study is limited by its small size, and may have limited generalizability to other patient populations. Future research should characterize the optimal breadth of WGS testing and implementation, as well as the potential for WGS to reduce infant mortality by identifying treatable disorders.

Sudden infant death syndrome

Sudden Infant Death Syndrome (SIDS) is a type of sudden and unexpected infant death, a term that encompasses both deaths from SIDS and ultimately all unexpected infant deaths with a determined cause. 1 Between %27 and % 43 of 3500 sudden unexpected infant death cases in the USA annually are due to SIDS. 2, 3 A number of other terms are used in pediatrics to describe sudden and unexpected deaths. Sudden unexpected death of an infant can be used interchangeably with sudden unexpected infant death, and sudden death in youth (VAS) refers to such death in any child 19 years of age or younger. Sudden unexplained early neonatal death is limited to infants who die within the first week of life and is usually congenital. anomaly is caused. Sudden intrauterine unexpected death syndrome refers to stillbirths for which postmortem examination cannot identify a cause, and sudden unexpected death in epilepsy is unexpected death in a person with epilepsy (excluding trauma or suffocation) for which postmortem examination does not reveal an anatomical or toxicological cause.

Development of an affordable microRNA electrochemical biosensor for identification and monitoring of obstructive sleep apnea and its associated comorbidities

Obstructive sleep apnea (OSA) is a growing and common disorder found in a large global population. Unfortunately, many tend to neglect this disorder without anticipating its chronic and serious health consequences. In this work we demonstrate a prototype portable, low-cost and facile sensing platform that can identify microRNA based molecular markers of OSA including monitoring its severity. An affordable commercial grade gold coated copper cladded laminate sheet was used for fabricating the electrochemical biosensor. The electrode surface was nanotextured to extend a dense and high surface area to significantly improve the sensitivity. A limit of detection of 0.7 nM could be obtained for mir-21 target with a very promising stability of more than 600 days at − 20 °C storage. Clinical utility of the fabricated sensor was established with a rsd of 7.3 % using RNA extracted from PBMC isolated blood samples of various (n = 12) OSA patients and healthy individuals (n = 7). The electrochemical sensing results were compared and satisfactorily validated with ΔCt values obtained from RT-PCR and AHI values from Polysomnography test. Clinical validation not only indicated potentials for an easy portable sensing technology but also a method to monitor patient’s severity of the disorder. These test results have been further supported by statistical analysis that enabled prediction of correlation of OSA with other common lifestyle disorders such as Obesity, liver disorder and diabetes. Overall, the proposed platform holds a strong potential as a reliable alternative to the existing OSA detection technology like Polysomnography that is complex and requires long data acquisition time.