Apparent Sudden Infant Death Syndrome Research Articles

Qualitative assessment of infant sleep practices and other risk factors of sudden infant death syndrome (SIDS) among mothers in Lusaka, Zambia

BackgroundThere is very little information on the beliefs and perceptions of mothers about SIDS and its related risk factors in Africa. To better understand parental decisions about infant sleep practices and other risk factors for SIDS, we conducted focus group discussions (FGDs) with mothers of infants in Lusaka, Zambia.MethodsFGDs involved 35 purposively sampled mothers aged 18–49 years. FGDs were conducted using a semi-structured interview guide in the local language, Nyanja. These were translated, transcribed verbatim into English, and then coded and analyzed using thematic analysis in NVivo 12.ResultsSix FGDs were conducted with 35 mothers in April-May 2021 across two study sites. FGD Participants were generally aware of sudden unexplained infant deaths, with several describing stories of apparent SIDS in the community. The side sleeping position was preferred and perceived to be safer for the infant with most believing the supine position posed an aspiration or choking risk to the infant. Bedsharing was also preferred and perceived to be convenient for breastfeeding and monitoring of the infant. Experienced family members such as grandmothers and mothers-in-law, and health care workers were frequently cited as sources of information on infant sleep position. A heightened awareness of the infant’s sleeping environment was suggested as a mechanism to prevent SIDS and smothering.ConclusionsDecisions about bedsharing and infant sleep position were guided by maternal beliefs and perceptions about what is convenient for breastfeeding and safer for the infant. These concerns are vital to designing tailored interventions to address sleep-related sudden infant losses in Zambia. Public health campaigns with tailored messages that address these concerns are likely to be effective at ensuring optimal uptake of safe sleep recommendations.

Jerold Francis Lucey, MD (1926-2017)

We note with sadness the death of Jerry Lucey, a friend, mentor, and colleague. His name is familiar to all pediatricians though his life work and contributions as an outstanding clinician, neonatologist, investigator, advocate, educator, and editor. Dr Lucey was an internationally renowned neonatologist at the University of Vermont College of Medicine since 1956. He made numerous contributions to the care of premature infants, specifically advances in phototherapy and oxygen monitoring, and the promotion of randomized trials among neonatal units. He was the recipient of numerous awards in recognition of his outstanding qualities of scholarship and advocacy on behalf of children. In his role as the Editor of Pediatrics, Dr Lucey established policies and standards that have served to guide us all. His vision of having Pediatrics embrace the global medical community led to the establishment in that journal of a strong international science and clinical practice presence. Of specific note was his commitment to the highest ethical standards in research and publication. This is perhaps best exemplified by his response to an article published in Pediatrics in 1972, which had linked sudden infant death syndrome (SIDS) and breathing abnormalities.1Steinschneider A. Prolonged apnea and sudden infant death syndrome: clinical and laboratory observations.Pediatrics. 1972; 50: 646-654PubMed Google Scholar Several children from one family with apparent SIDS served as the basis for this study; they were later shown to be victims of medical child abuse. The published hypothesis of a genetic predisposition to SIDS, as well as a causal association between SIDS and infantile apnea, led to the use of home cardiorespiratory monitors to prevent SIDS. This widely cited report triggered not only parental anxiety but countess hours of fruitless investigation into the relationship between apnea and SIDS.2Consensus Statement National Institutes of Health Consensus Development Conference on infantile apnea and home monitoring, September 29, 1986–October l, 1986.Pediatrics. 1987; 79: 292-300PubMed Google Scholar, 3Firstman R. Talen J. The death of innocents. Bantam Books, New York (NY)1997Google Scholar, 4Duffy P. Bryan M.H. Home apnea monitoring in “near miss” sudden infant death syndrome (SIDS) and siblings of SIDS victims.Pediatrics. 1982; 70: 69-74PubMed Google Scholar Despite the fact that this article was accepted before Dr Lucey's tenue as editor, he addressed the issue head on, apologized for the mistake, and stated that the article was flawed and should never have been published.5Lucey J.F. A very important erratum? — 20 years later.Pediatrics. 1994; 93: 944Google Scholar Dr Lucey's dedication to the highest ethical standards is an enduring legacy. In 1990, he joined the editors of several general pediatric journals to express concern about ethical transgressions—such as the duplication of data in papers submitted to several journals (self-plagiarism) and the practice of dividing a study into several short reports (the “least publishable unit”)—in a constructive effort to maintain the quality of the pediatric literature.6Bier D.M. Fulginiti V.A. Garfunkel J.M. Lucey J.M. Spranger J. Valman B. et al.Duplicate publication and related problems.J Pediatr. 1990; 117: 903Abstract Full Text PDF Scopus (4) Google Scholar In 2009, Dr Lucey and the editors of the major US general pediatric journals met at the annual Pediatric Academic Societies meeting to initiate a workshop entitled “Ethics in Publishing”; this on-going workshop remains important and highly relevant today. Dr Lucey will be missed by all who have benefited from his contributions—his patients, his students, as well as pediatricians worldwide.

Exploratory Brain Metabolomics: Sudden Infant Death Syndrome

Sudden Infant Death Syndrome (SIDS) is the sudden, unexplained passing of an infant during sleep within the first year of life. The diagnosis of SIDS is one of exclusion, with no plausible explanation following autopsy and investigation of the death scene. Most of our present understanding of SIDS comes from epidemiological studies, and much is less known about molecular etiology. One candidate mechanism is that abnormalities in brainstem biochemistry cause altered neural control of breathing, leading to rousing defect and apparent SIDS. The objective of this study was to identify novel brain biochemicals associated with SIDS. Postmortem human infant brain tissue specimens from 28 decedents underwent comprehensive metabolomic profiling (SIDS, n=15; non‐SIDS, n=13). A total of 87 brain specimens were collected from 4 different regions of the brain associated with learning and memory, including the auditory cortex (AC, n=11), frontal cortex (FC, n=27), hippocampus (HC, n=22), and occipital cortex (OC, n=27). The contributions of both SIDS status and age to differential abundance of biochemicals were determined using Wilcoxon rank sum and Spearman correlation tests. A total of 247 known biochemicals were detected. Between SIDS and non‐SIDS specimens, 2 biochemicals in the AC, 12 in the FC, 9 in the HC and 10 in the OC were detected at significantly different levels (p<0.05). The most striking metabolomic pattern in SIDS vs. non‐SIDS specimens was attributed to changes in the urea cycle. Urea levels were 34% and 45% lower in the OC and HC, respectively, from SIDS brains, suggesting hyperammonemia. Also related to urea cycle, SIDS specimens showed changes in spermidine (−29% in OC), citrulline (+94% in HC), aspartate (+49% in FC and +35% in HC), arginine (+17% in FC) and 4‐guanidobutanoate (+31% in HC), relative to non‐SIDS specimens. Carbohydrate metabolism was altered, as glucose, fructose and sorbitol levels trended downward in all 4 SIDS brain specimens. Changes in both fructose (−70% in OC) and sorbitol (−59% in FC) achieved significance. Protein metabolism was also altered. The tryptophan metabolite kynurenine and the valine metabolite α‐hydoxyisovalerate were 37% and 74% lower in SIDS OC, while cysteine (+2.1‐fold) and cysteine‐glutathione disulfide (+2.2‐fold) increased in SIDS FC. Pseudouridine was ~30% decreased in each of FC, HC and OC from SIDS brains, suggesting differences in tRNA metabolism. Additionally, correlation analysis of biochemical levels vs. age of infant showed remarkable differences between SIDS and non‐SIDS. For example, non‐SIDS HC and OC age correlated with 7 and 22 biochemicals, respectively, while SIDS HC and OC age correlated with 29 and 49 biochemicals. In sum, we have identified several new candidate brain biochemicals and pathways, such as the urea cycle, associated with SIDS.Support or Funding InformationFunding for this study was provided by Abbott Nutrition.

Overview of the special issue on child maltreatment and bullying: Different perspectives

Received: February 25, 2013 Accepted: February 27, 2013 Infants and children are among the most vulnerable members of society. While the majority experience a good or nurturing environment, a significant minority have some substantial experience of maltreatment or abuse. For infants this may often be perpetrated by adults; for older children, often by peers. A common factor is repeated attacks against a weaker victim. This may be called maltreatment, abuse, bullying, or harassment, depending on the age of the victim and the context (e.g. home, school, community) (1). Common to all of these is a fundamental disrespect for human rights, and often severe negative consequences for all concerned, but most especially for the victims. This valuable collection of articles provides overviews of a range of such phenomena, from a number of countries and from varied disciplinary perspectives. The most irreversible form of abuse is homicide. We know that infanticide occurs across human societies. Koehler and Applegate (2) provide an important overview of cases in which Sudden Infant Death syndrome (SIDS) can be homicide. SIDS is most common between 2 to 6 months, and is diagnosed when a relatively healthy infant fails to wake up from sleep. Most SIDS cases do not involve maltreatment, but from the evidence it seems that some 1% to 5% are homicides (as for example evidenced by subsequent confessions). There is a natural reluctance to pursue the possibility of homicide following an apparent SIDS case, but Koehler and Applegate (2) provide a strong case that this should always be seriously (though sensitively) considered. One reason is that this can help prevent repeated homicides, of Child maltreatment and bullying

Child abuse by suffocation: A cause of apparent life-threatening events

Despite decades of attention, child maltreatment is a pervasive problem that remains under-recognized (1,2), leaving younger children and infants at great risk of lethal child maltreatment (3). Recurrent intentional suffocation of a child by a caregiver – termed suffocatory abuse – is a particularly deadly form of maltreatment. The present article summarizes the importance of considering suffocatory abuse as a differential diagnostic possibility, especially in infants with apparent life-threatening events (ALTEs) or apparent sudden infant death syndrome (SIDS).

Presentation andSurvival of Prehospital Apparent Sudden Infant Death Syndrome

Background. Prehospital providers are often involved in the resuscitation of apparent sudden infant death syndrome (SIDS) victims; however, data are few on the presentation andoutcome of these patients.Objectives. To describe the presentation anddetermine the survival rate of infants who have an unwitnessed, prehospital arrest consistent with SIDS (apparent SIDS), andto compare the presentation of infants with a final diagnosis of SIDS with those who presented as apparent SIDS but had a different final diagnosis.Methods. This was a secondary analysis of data from a controlled trial whose methodology has been previously described. The setting was two large, urban emergency medical services (EMS) systems of Los Angeles andOrange Counties, California. The population included 113 apparent SIDS victims from the original interventional study who had a prehospital, unwitnessed arrest consistent with SIDS, defined by the scenario of an infant aged ≤12 months being placed to sleep andlater found in full arrest (pulseless andapneic). Data collected included ethnicity, gender, arrest etiology, signs of death (lividity, rigor mortis), prehospital interventions, return of spontaneous circulation (ROSC), arrest rhythm, code 3 transport (lights andsirens), andsurvival to hospital discharge.Results. One hundred ten of 113 apparent SIDS patients had survival data; 0 of 110 (95% CI 0% to 3.3%) survived, although ROSC was achieved in 5%; for three patients data on survival were missing. Arrest rhythms were determined in 94% of the subjects: asystole 87%, pulseless electrical activity (PEA) 8%, andventricular fibrillation 4%. Only 50 of 113 (44%) of the EMS records documented code 3 transport; the remainder of the records were ambiguous. SIDS was the final coroner's diagnosis for 79 of 113 (70%) of the cases. Other causes of death in these apparent SIDS victims included respiratory causes (12%), asphyxiation (3%), abuse (2%), congenital heart disease (2%), sepsis (2%), other (4%), andunknown (5%). Apparent SIDS victims with a final diagnosis of SIDS were more likely to show signs of death (27/79, 34% vs. 5/34, 15%, p = 0.035) andwere less likely to have a rhythm of PEA (4/77, 5% vs. 5/31, 16%, p = 0.08), although the latter result was not statistically significant.Conclusions. Apparent SIDS victims have a dismal prognosis; all infants presenting with apparent SIDS died, even the 30% whose final diagnosis was not SIDS. Given that there were no survivors, new prehospital policies are needed governing the use of lights andsirens, resuscitation decisions including termination of resuscitation, provision of grief support to families, andincident stress debriefing for prehospital personnel.

Near-miss apparent SIDS from adrenal crisis

Objective Adrenal crisis from salt-losing congenital adrenal hyperplasia (CAH) typically occurs in the first 2 weeks of life. We evaluated 3 infants with adrenal crisis who presented at 6 to 8 months of age with near-miss sudden infant death syndrome (SIDS). Subjects Three 46,XY phenotypic female infants presented near death at 6 to 8 months of age with adrenal crisis and unmeasurable steroid hormones consistent with congenital lipoid adrenal hyperplasia (lipoid CAH). Methods We sequenced genes potentially causing this phenotype: steroidogenic acute regulatory protein (StAR), the cholesterol side-chain cleavage enzyme, adrenodoxin reductase, adrenodoxin, and steroidogenic factor 1 (SF1). Site-directed mutagenesis and functional assays were performed for the missense mutation. Results Hormonal values showed complete absence of adrenal and gonadal steroids. Patient 1 was a compound heterozygote for missense mutation R140P and an mRNA splice donor site mutation in the StAR gene. The R140P mutation was wholly inactive in vitro. Patient 2 was homozygous for a 7 base pair StAR deletion causing a frameshift. No mutations were found in Patient 3, suggesting a novel disease. Conclusions Although genetic disorders of steroidogenesis typically present in the first month of life, some defects, especially those in StAR, can present in mid-infancy, when adrenal hyperplasias are rarely considered. Adrenal insufficiency is a subtle disorder that may cause cardiovascular collapse, causing unexplained infant death that resembles SIDS.

Toxicologic analysis in cases of possible sudden infant death syndrome: a worthwhile exercise?

The diagnosis of sudden infant death syndrome (SIDS) is one of exclusion. At the Department of Forensic Medicine, Westmead Hospital, toxicologic analysis is performed as part of the postmortem examination of all apparent SIDS deaths. The results for the 5-year period January 1, 1994, to December 31, 1999, were audited to determine whether such routine testing was worthwhile. During this time there were 117 cases with a history consistent with SIDS. Drugs were detected in 19 (16%) of these cases. In 1 case, death was attributed to the finding of methadone. The presence of methadone was regarded as a possible contributing factor to death in a further 2 cases. The presence of possible methadone toxicity had not been expected from the history given before the examination in these 3 cases. In 114 cases there was a suitable sample for alcohol testing; in no case was alcohol detected. In 13 cases the postmortem examination revealed an anatomic cause of death (including 3 cases consistent with whiplash/shaken baby/impact head injury), which excluded a diagnosis of SIDS. In conclusion, routine toxicologic testing in all possible cases of SIDS death supplements the postmortem examination in excluding cases of non-SIDS.

Enzyme-linked immunoassay for respiratory syncytial virus is not predictive of bronchiolitis in sudden infant death syndrome.

Although respiratory syncytial virus (RSV)-infected infants may present with apnea, the role that RSV plays in sudden infant death syndrome (SIDS) is speculative. To determine whether RSV is associated with bronchiolitis in these patients, we examined histologic sections of lungs from 41 apparent SIDS cases and compared the results with those of enzyme-linked immunofluorescent assay (EIA) from nasal washings. Bronchiolitis was defined by a bronchiolar inflammatory cell infiltrate plus epithelial necrosis. A positive EIA was associated with bronchiolitis in 8 instances, compared with 6 having a positive EIA and negative histology, 14 having a negative EIA and positive histology, and 13 having EIA and histology both negative. These results yield a predictive value of a positive test of 57% and a predictive value of a negative test of 48% (P > .9 by chi square analysis). Although RSV of the upper respiratory tract may be related to SIDS, our results indicate that EIA of nasal washings is not predictive of bronchiolitis, and we recommend other means of verification of histologic results.

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.

A small percentage of apparent sudden infant death syndrome (SIDS) victims may have an unsuspected metabolic disorder. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid oxidation that has been the most common such metabolic disorder found in series of SIDS victims. A single mutation in MCAD deficiency has been recently described (G-985) that accounts for approximately 90% of MCAD deficiency mutations. We studied the hypothesis that heterozygosity or homozygosity for this specific MCAD deficiency mutation might be associated with SIDS. DNA was extracted from the paraffin-embedded autopsy tissues of 67 victims of SIDS in Monroe County, NY who died between 1984 and 1989. Using the polymerase chain reaction/NcoI digestion method, we found no G-985 homozygotes and three (4.5%) G-985 heterozygotes. In 70 newborn controls, there were no G-985 homozygotes and one (1.4%) heterozygote. Although the frequency of G-985 heterozygotes was slightly greater than in our control group, it was not statistically different. We conclude that the specific MCAD deficiency mutation G-985 is not strongly associated with SIDS and that MCAD deficiency probably does not make a significant contribution to the etiology of SIDS.

Blasts in peripheral blood with intraosseous infusion

Two children who died of apparent Sudden Infant Death syndrome (SIDS) were found to have immature white blood cells, including blasts, in their peripheral blood. No cause for marrow elements in peripheral blood was found. The blood was sampled proximal to an intraosseous infusion, which may have displaced the marrow elements into the venous circulation. Physicians should be aware that patients receiving intraosseous infusions may have immature white blood cells in the peripheral circulation in the absence of malignant, infectious, or infiltrative disease of the marrow.

Dicyclomine in the Sudden Infant Death Syndrome (SIDS)—A Cause of Death or an Incidental Finding?

We report a case of a small infant apparently dying of the Sudden Infant Death Syndrome (SIDS) with a postmortem blood dicyclomine level of 200 ng/mL. Review of the literature and the comparison with blood dicyclomine values from four rabbits given equivalent doses suggests that a blood dicyclomine value of 200 ng/mL probably is in the therapeutic range for infants. Although safely used for years for infantile colic, recently, the administration of dicyclomine has been related to acute episodes of apnea, seizures, and coma. In the absence of those acute reactions, we feel that a 200-ng/mL blood dicyclomine level in a child dying of apparent SIDS should not prevent categorization of the death as SIDS.

Neurona in the region of the atrioventricular node

A three month old infant died of apparent sudden infant death syndrome. Autopsy showed a neuroma in the region of the atrioventricular node, unassociated with neurofibromatosis. The atrioventricular node and bundle of His were normal. It was not possible to ascribe the sudden death to the neuroma.