Neuropathological Developments in Sudden Infant Death Syndrome

2018 ◽  
Vol 21 (6) ◽  
pp. 515-521 ◽  
Author(s):  
Fiona M Bright ◽  
Robert Vink ◽  
Roger W Byard

A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem. However, it now appears that neuropathological abnormalities in SIDS infants are more complex than a simple serotonergic deficiency in certain medullary nuclei but instead could involve failure of an integrated network of neurochemical transmitters in a variety of subcortical locations. The following overview examines recent research developments looking particularly at the potential role of the peptide neurotransmitter substance P and its neurokinin-1 receptor in multiple nuclei within the brainstem, asymmetry and microdysgenesis of the hippocampus, and decreased orexin levels within dorsomedial, perifornical, and lateral levels in the hypothalamus. Whether such research will lead to identifiable biomarker for infants at risk of SIDS is yet to be established. Use of standardized and consistent methods of classifying and categorizing infant deaths will be pivotal in generating reproducible research results.

Author(s):  
Siri Hauge Opdal ◽  
Linda Ferrante ◽  
Torleiv Ole Rognum ◽  
Arne Stray-Pedersen

AbstractSeveral studies have indicated that a vulnerability in the development and regulation of brain function is involved in sudden infant death syndrome (SIDS). The aim of this study was to investigate the genes encoding the brain aquaporins (AQPs) AQP1 and AQP9 in SIDS. The hypothesis was that specific variants of these genes are part of the genetic vulnerability predisposing infants to sudden unexpected death. The study included 168 SIDS cases with a median age of 15.5 (range 2–52) weeks and 372 adolescent/adult deceased controls with a median age of 44 (range 11–91) years. In the AQP1 gene, the rs17159702 CC/CT genotypes were found to be associated with SIDS (p = 0.02). In the AQP9 gene, the combination of a TT genotype of rs8042354, rs2292711 and rs13329178 was more frequent in SIDS cases than in controls (p = 0.03). In the SIDS group, an association was found between genetic variations in the AQP1 gene and maternal smoking and between the 3xTT combination in the AQP9 gene and being found lifeless in a prone position. In conclusion, this study adds further evidence to the involvement of brain aquaporins in SIDS, suggesting that specific variants of AQP genes constitute a genetic predisposition, making the infant vulnerable to sudden death together with external risk factors and probably other genetic factors.


PEDIATRICS ◽  
1992 ◽  
Vol 89 (5) ◽  
pp. 855-859
Author(s):  
Karin Helweg-Larsen ◽  
Lisbeth B. Knudsen ◽  
Markil Gregersen ◽  
Jørn Simonsen

To investigate a reported increase, from 0.4 to 1.3 per thousand live births, in the Danish incidence of sudden infant death syndrome (SIDS), a retrospective analysis of SIDS in Denmark from 1972 to 1983 was carried out. Based on data registered with the National Board of Health, a notable regional difference in SIDS rate between the western and eastern parts of Denmark was found. This difference did not correlate with the overall postneonatal mortality by region. Danish law requires medicolegal investigation in all cases of sudden unexpected death. Medicolegal autopsies are performed only in the three forensic institutes which cover all of Denmark. Despite the law and a uniform organization of the forensic medical services, differing application of postmortem examinations and individual interpretation of the history and autopsy in cases of sudden infant death existed. Differences in reporting of respiratory infections, suffocation, and cardiac malformation were found to contribute to the increase and to regional disparities in SIDS incidence. The three Danish forensic institutes examined all cases of sudden infant deaths in Denmark 1987 and 1988. These cases were classified as explained cause of death, pure SIDS, and atypical SIDS; atypical cases were evaluated by consensus. The SIDS incidence (the number of classic SIDS and atypical SIDS per thousand live births) was 1.9 in 1987 and 1.3 in 1988, and it was identical in the eastern and western part of Denmark; however, a higher incidence both of overall postneonatal and SIDS mortality was found in the middle region of Denmark. The analysis stresses the importance of high autopsy rate and expert investigation in all cases of infant death in order to obtain reliable data for epidemiological studies. A prospective joint study of all postneonatal infant deaths in Finland, Iceland, Norway, Sweden, and Denmark will be carried out to analyze the reliability and the possible cause of reported differences in SIDS incidence in the five Nordic countries.


2020 ◽  
Vol 134 (6) ◽  
pp. 2143-2147
Author(s):  
Jakob Matschke ◽  
Jan-Peter Sperhake ◽  
Nadine Wilke ◽  
Klaus Püschel ◽  
Markus Glatzel

Abstract Sudden infant death syndrome (SIDS) is the sudden unexpected death of an infant < 1 year of age that remains unexplained after comprehensive workup including complete autopsy and investigation of the circumstances of death. The triple risk hypothesis posits that SIDS results as a combination of both intrinsic and extrinsic factors on the background of a predisposing vulnerability. Neuropathological examination in the past has focussed mainly on the brainstem as the major player in respiratory control, where subtle findings have been linked to the chain of events leading to death in SIDS. The cerebellum has received less attention, probably due to an assumed negligible role in central cardiorespiratory control. We report four cases of SIDS in which neuropathological investigation revealed cerebellar heterotopia of infancy, a distinct malformation of the cerebellum, and discuss the potential impact of this condition on the aetiology and pathogenesis of SIDS.


1986 ◽  
Vol 58 (11) ◽  
pp. 1104-1105 ◽  
Author(s):  
Barry J. Maron ◽  
Deborah J. Barbour ◽  
John V. Marraccini ◽  
William C. Roberts

PEDIATRICS ◽  
1972 ◽  
Vol 50 (4) ◽  
pp. 664-664
Author(s):  
Donald L. Fields

Just when we became familiar with the meaning of SUDS (Sudden Unexpected Death Syndrome) we find in the same issue of Pediatrics (June 1972) SIDS (Sudden Infant Death Syndrome) and SID (Sucrase Isomaltase Deficiency). Nothing is sacred.


PLoS ONE ◽  
2017 ◽  
Vol 12 (9) ◽  
pp. e0184958 ◽  
Author(s):  
Fiona M. Bright ◽  
Robert Vink ◽  
Roger W. Byard ◽  
Jhodie R. Duncan ◽  
Henry F. Krous ◽  
...  

2005 ◽  
Vol 8 (3) ◽  
pp. 307-319 ◽  
Author(s):  
Henry F Krous ◽  
Amy E. Chadwick ◽  
Laura Crandall ◽  
Julie M. Nadeau-Manning

Sudden unexplained death in childhood (SUDC) is rare, with a reported incidence in the United States of 1.5 deaths per 100,000 live births compared with 56 deaths per 100,000 live births for sudden infant death syndrome in 2001. The objectives of this study include a proposal for a general definition for SUDC and presentation of 36 cases of SUDC and 14 cases of sudden unexpected death in childhood. Cases were accrued through referrals or unsolicited via our Web page ( www.sudc.org ). Our analyses tentatively suggest a SUDC profile characterized by cases being 1 to 3 years in age, predominantly male, and frequently having a personal and family history of seizures that are often associated with a fever. A history of recent minor head trauma is not uncommon. They are usually born at term as singletons and occasionally have a family history of sudden infant death syndrome or SUDC. Most are found prone, often with their face straight down into the sleep surface. Minor findings are commonly seen at postmortem examination but do not explain their deaths. Comprehensive review of the medical history and circumstances of death and performance of a complete postmortem examination including ancillary studies and extensive histologic sampling of the brain are critical in determining the cause of death in these cases of sudden unexpected childhood death. Legislation enabling research and formation of a multicenter research team is recommended to unravel the mystery of SUDC.


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