Noncardiac genetic predisposition in sudden infant death syndrome

Gray, Belinda; Tester, David J.; Wong, Leonie C.H.; Chanana, Pritha; Jaye, Amie; Evans, Jared M.; Baruteau, Alban‐Elouen; Evans, Margaret J.; Fleming, Peter; Jeffrey, I; Cohen, Marta C.; Tfelt-Hansen, Jacob; Simpson, Michael A.; Ackerman, Michael J.; Behr, Elijah R.

doi:10.1038/s41436-018-0131-4

Cited by 10 publications

(16 citation statements)

References 32 publications

(46 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Importantly, this does not suggest a lack of genetic contribution to SIDS; rather, it supports an extreme heterogeneity in the genetic causes which cannot be singled out by these methods in a cohort of this size (427 infants). Moreover, an investigation of all previously implicated noncardiac genes underpinning SIDS also failed to show any significant associations of ultrarare or novel variations consistent with autosomal dominant and recessive inheritance patterns . Therefore, it still needs to be investigated whether infant vulnerability to sudden death may be supported by a more complex polygenic inheritance model.…”

Section: Discussionmentioning

confidence: 99%

“…significantly improved our understanding of the genetic basis of SIDS, 41,[43][44][45] but the magnitude of its contribution and the mode of inheritance are still obscure. A sequencing study of 161 infants who died of SIDS identified potentially causative gene variants in 20% of the children, and these were associated with inherited cardiac disorders and metabolic diseases.…”

Section: (2-4)mentioning

confidence: 99%

See 1 more Smart Citation

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

et al. 2023

Self Cite

View full text Add to dashboard Cite

ImportanceSudden infant death syndrome (SIDS) remains a leading cause of death during the first year of life. The etiology of SIDS is complex and remains largely unknown.ObjectiveTo evaluate whether siblings of children who died of SIDS have a higher risk of SIDS compared with the general pediatric population.Design, Setting, and ParticipantsThis register-based cohort study used Danish nationwide registers. Participants were all infants (&lt;1 year) in Denmark between January 1, 1978, and December 31, 2016, including siblings of children who died of SIDS. Siblings were followed up from the index cases’ date of SIDS, date of birth, or immigration, whichever came first, and until age 1 year, emigration, developing SIDS, death, or study end. The median (IQR) follow-up was 1 (1-1) year. Data analysis was conducted from January 2017 to October 2022.Main Outcomes and MeasuresStandardized incidence ratios (SIRs) of SIDS were calculated with Poisson regression models relative to the general population.ResultsIn a population of 2 666 834 consecutive births (1 395 199 [52%] male), 1540 infants died of SIDS (median [IQR] age at SIDS, 3 [2-4] months) during a 39-year study period. A total of 2384 younger siblings (cases) to index cases (first sibling with SIDS) were identified. A higher rate of SIDS was observed among siblings compared with the general population, with SIRs of 4.27 (95% CI, 2.13-8.53) after adjustment for sex, age, and calendar year and of 3.50 (95% CI, 1.75-7.01) after further adjustment for mother’s age (&lt;29 years vs ≥29 years) and education (high school vs after high school).Conclusions and RelevanceIn this nationwide study, having a sibling who died of SIDS was associated with a 4-fold higher risk of SIDS compared with the general population. Shared genetic and/or environmental factors may contribute to the observed clustering of SIDS. The family history of SIDS should be considered when assessing SIDS risk in clinical settings. A multidisciplinary genetic evaluation of families with SIDS could provide additional evidence.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: (2-4)mentioning

confidence: 99%

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

et al. 2023

Self Cite

View full text Add to dashboard Cite

show abstract

“…These infants and caregivers compose a population with potentially heightened anxiety among caregivers, limited evaluations, and short observation periods. Similar to sudden infant death syndrome, BRUE is unpredictable and without identified significant risk factors, 8,9 which may contribute to parental anxiety. Qualitative research allows us to study the knowledge and beliefs people have regarding a specific topic as it relates to their own experience and can help provide a detailed illustration of underlying constructs that affect caregivers during the hospitalization of their children.…”

mentioning

confidence: 99%

Caregivers’ Perceptions and Hospital Experience After a Brief Resolved Unexplained Event: A Qualitative Study

Khan¹,

Wallace²,

Sampayo

et al. 2019

Hospital Pediatrics

View full text Add to dashboard Cite

BACKGROUND AND OBJECTIVES: The American Academy of Pediatrics published guidelines for evaluation and management of lower-risk infants for a brief resolved unexplained event (BRUE). The guideline identified gaps in knowledge related to caregiver satisfaction, anxiety, and family-centered educational strategies to improve caregiver experience and patient outcomes. The objective of this study was to understand caregivers’ experience with hospitalization for infants with BRUE, including their perception of the hospital stay, the diagnosis of BRUE, and their feelings toward the upcoming discharge from the hospital. METHODS: We conducted a qualitative study using semistructured interviews with caregivers of infants aged 0 to 12 months who were admitted to a quaternary care children’s hospital for a BRUE. Interviews were conducted within 24 hours of discharge. Two investigators coded transcripts and identified themes using consensus. RESULTS: Eighteen caregivers of 13 infants were interviewed. No infants met criteria for being low risk according to the American Academy of Pediatrics guidelines. The coding scheme produced 3 major themes. First, parents felt reassured by hospital monitoring, diagnostic evaluation, and staff support in the hospital. Second, parents felt unsettled by the uncertainty of the child’s condition and whether BRUE’s “unexplainable” quality is understood as being part of normal infant behavior. Third, these themes manifested as conflicting emotions about caregivers’ readiness for discharge. CONCLUSIONS: Although hospital monitoring may provide reassurance for some caregivers, they continue to struggle with the uncertainty of the diagnosis. Caregiver perspectives can inform physicians’ strategies to improve hospital experience and discharge readiness.

show abstract

“…The authors indicate that this may be due to an extreme heterogeneity of aetiologies underlying SIDS. A study by Grey and Behr 22 performed an exome sequencing of non‐cardiac genes, but also this study failed to identify any specific biological pathway associated with SIDS.…”

Section: Discussionmentioning

confidence: 90%

No association to sudden infant death syndrome detected by targeted amplicon sequencing of 24 genes

2020

View full text Add to dashboard Cite

Aim: The aim was to identify genetic variants associated with sudden infant death syndrome (SIDS) that can cause disease or introduce vulnerability. Genes reported in a previous SIDS study to have altered messenger ribonucleic acid (mRNA) expression in SIDS were investigated. Methods: Samples from 81 SIDS (56 male/28 female) with a median age of 4 months (range 0.75-9 months) were analysed using Illumina TruSeq custom amplicon for 24 selected genes. Samples were collected from autopsy at Oslo university hospital from children whom died suddenly and unexpectedly from 1988 to 2006. The controls were the germline variation database, Norgene (no description of cases available). Results: After filtering for rare variants, there were a total of 38 variants in the 81 SIDS cases and 462 variants in the 789 controls. After the filtration and curation steps, we found 36 rare variants. The overall occurrence of rare variants for all the SIDS samples was lower than for the Norgene population. Conclusion: There was no association between rare variants in the included genes and SIDS. Although not statistically significant, two of the SIDS cases had a rare variant in the MyD88 gene: rs746651350, rs200424253.

show abstract

Noncardiac genetic predisposition in sudden infant death syndrome

Abstract: A monogenic basis for SIDS amongst the previously implicated noncardiac genes and their encoded biological pathways is negligible.

Cited by 10 publications

References 32 publications

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark

Caregivers’ Perceptions and Hospital Experience After a Brief Resolved Unexplained Event: A Qualitative Study

No association to sudden infant death syndrome detected by targeted amplicon sequencing of 24 genes

Contact Info

Product

Resources

About