Sudden unexpected death in infancy: epidemiologically determined risk factors related to pathological classification

L'Hoir, M.P.; Engelberts, A. C.; Well, G. T. J. van; Bajanowski, Thomas; Helweg‐Larsen, Karin; Huber, J.

doi:10.1111/j.1651-2227.1998.tb00952.x

“…9 With regard to maternal variables, adolescent pregnancy is a known risk factor for several conditions, including SIDS. 27,28,30 This was also observed in our study: adolescent pregnancy presented the highest individual OR (18.0) in the comparison between SIDS and living controls.…”

Section: Sids: Epidemiological Profile and Diagnosis -Pinho Ap And Nunesupporting

confidence: 74%

“…Nevertheless, our findings corroborate previous studies in the sense of asserting that recognizing sleeping habits potentially protective for SIDS and avoiding sleeping practices associated with an increased risk for SIDS may have a positive impact on reducing the incidence of SIDS in populations from regions where this information is not currently given to parents. 27,28 In the US, a higher frequency of SIDS has been reported in African Americans. 29 In the present study, self-declared black skin color was significantly associated with SIDS.…”

Section: Sids: Epidemiological Profile and Diagnosis -Pinho Ap And Nunementioning

confidence: 99%

Perfil epidemiológico e estratégias para o diagnóstico de SMSL em um país em desenvolvimento

Pinho¹,

Nunes²

2011

J. Pediatr. (Rio J.)

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Objective: To describe the epidemiological profile, risk factors and best strategies for diagnosing sudden infant death syndrome (SIDS) in a developing country. Methods:Population-based, case-control study with children born between January 1st, 2001, and December 31st, 2003, in Porto Alegre, southern Brazil, who were allocated into three groups: SIDS cases (33), explained death controls (192), and living controls (192). Children in the latter two groups were age-and sex-paired with SIDS cases. Families in which an infant had died at home within the first year of life were identified, and the information available on death certificates and autopsy reports was compared to confirm the diagnosis of SIDS. Explained death controls consisted of infants who had died at city hospitals, and living controls were selected in the same neighborhood as SIDS cases. All parents were interviewed to obtain information on children's health and sleep habits. Multivariate analysis was performed to identify risk factors in the study population. Results:The incidence of SIDS in the population assessed was 0.55/1,000 live births. The analysis revealed the following risk factors: ethnicity (characterized by self-reported black skin color), prematurity, low birth weight, adolescent mother, smoking during pregnancy, and family income of less than one minimum wage. Ninety-four percent of SIDS cases were misdiagnosed in the death certificate. Conclusions:Although SIDS was misdiagnosed in official death certificates, the epidemiological profile is similar to the literature, as well as risk factors, which could be reduced with preventive campaigns. Investigating SIDS in developing countries requires special strategies to avoid misdiagnosis.

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“…This standardized autopsy protocol is in accordance with the European guidelines for medico-legal autopsies 5 and closely reflects the International Standardized Autopsy Protocol 6 and protocols used in other studies on SIDS. [7][8][9] The autopsy included a thorough external examination, a complete internal examination, extensive histology, neuropathology, a full analytic toxicology scheme, and microbiology and virology. Death scene investigation was performed, and the clinical history was analyzed.…”

Section: Patientsmentioning

confidence: 99%

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

Hering

¹

,

Frade-Martinez

²

,

Bajanowski³

et al. 2006

Genetics in Medicine

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Background: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene. Purpose:The study's purpose was to reveal a possible role of TSPYL1 in SIDS. Methods: DNA samples of 126 SIDS cases and 261 controls were investigated. Results: We found five sequence variations, each of them causing an amino acid substitution. No Hardy Weinberg disequilibrium and no significant difference in allele frequencies between patients and controls were observed for any variation. In one female patient a p.F366L amino acid polymorphism was found heterozygous, which could not be displayed in controls. A pathogenic implication of this substitution, which is conserved in primates and rodents, cannot be ruled out completely. Because SIDDT is the result of homozygous TSPYL1 mutations, this heterozygous exchange cannot solely explain the sudden death in this child.The reported mutation associated with SIDDT (457_458insG) was not detectable in our cohort. Key Words: TSPYL1, TSPYL, SIDS, SIDDT, sudden infant death syndromeSudden infant death syndrome (SIDS) is defined as the sudden death of an infant that remains unexplained after a careful autopsy, death scene investigation, and review of the medical history. 1 With an incidence of 0.46 per 1000 life births in Germany in 2002, it constitutes the most frequent cause of death in the postperinatal period. 2 Genetic (e.g., long QT syndrome genes, interleukin-10, and serotonin transporter gene) and environmental factors (e.g., prone sleep position, maternal smoking, and early weaning from breastfeeding) seem to contribute to SIDS. 2 Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene. 3 To reveal a possible role of TSPYL1 in SIDS, we investigated DNA samples of 126 deceased children from the German study on sudden infant death (GeSID). 4 MATERIALS AND METHODS PatientsFor the present study 126 consecutive cases from the GeSID, 4 which were investigated between 1998 and 1999, were selected. A standardized autopsy protocol was applied in all 18 study centers involved. This standardized autopsy protocol is in accordance with the European guidelines for medico-legal autopsies 5 and closely reflects the International Standardized Autopsy Protocol 6 and protocols used in other studies on SIDS. [7][8][9] The autopsy included a thorough external examination, a complete internal examination, extensive histology, neuropathology, a full analytic toxicology scheme, and microbiology and virology. Death scene investigation was performed, and the clinical history was analyzed. All 18 centers obtained the approval of their local medical ethics committees and the state data protection officer. ControlsA total of 261 adults (aged 65-83 y...

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“…Com relação às variáveis maternas, a gravidez na adolescência é um fator de risco conhecido para várias moléstias, inclusive a SMSL 27,28,30 . Isso também foi observado em nosso estudo: a gravidez na adolescência apresentou o OR individual mais elevado (18,0) na comparação entre SMSL e controles vivos.…”

Section: óBitos Esclarecidos Controles Vivosunclassified

Epidemiological profile and strategies for diagnosing SIDS in a developing country: a case-control study

Pinho

¹

,

Nunes

²

2011

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Objective: To describe the epidemiological profile, risk factors and best strategies for diagnosing sudden infant death syndrome (SIDS) in a developing country. Methods:Population-based, case-control study with children born between January 1st, 2001, and December 31st, 2003, in Porto Alegre, southern Brazil, who were allocated into three groups: SIDS cases (33), explained death controls (192), and living controls (192). Children in the latter two groups were age-and sex-paired with SIDS cases. Families in which an infant had died at home within the first year of life were identified, and the information available on death certificates and autopsy reports was compared to confirm the diagnosis of SIDS. Explained death controls consisted of infants who had died at city hospitals, and living controls were selected in the same neighborhood as SIDS cases. All parents were interviewed to obtain information on children's health and sleep habits. Multivariate analysis was performed to identify risk factors in the study population. Results:The incidence of SIDS in the population assessed was 0.55/1,000 live births. The analysis revealed the following risk factors: ethnicity (characterized by self-reported black skin color), prematurity, low birth weight, adolescent mother, smoking during pregnancy, and family income of less than one minimum wage. Ninety-four percent of SIDS cases were misdiagnosed in the death certificate. Conclusions:Although SIDS was misdiagnosed in official death certificates, the epidemiological profile is similar to the literature, as well as risk factors, which could be reduced with preventive campaigns. Investigating SIDS in developing countries requires special strategies to avoid misdiagnosis.J Pediatr (Rio J). 2011;87(2):115-122: SIDS, epidemiology, prone sleeping position. ResumoObjetivo: Descrever o perfil epidemiológico, os fatores de risco e as melhores estratégias para diagnosticar a síndrome da morte súbita do lactente (SMSL) em um país em desenvolvimento. Resultados: A incidência da SMSL na população avaliada foi de 0,55/1.000 nascidos vivos. A análise revelou os seguintes fatores de risco: etnia (autorreferida como negra), prematuridade, baixo peso ao nascer, mãe adolescente, tabagismo na gravidez e renda familiar abaixo de um salário mínimo. Além disso, 94% dos casos de SMSL foram maldiagnosticados na certidão de óbito. MétodosConclusões: Embora a SMSL tenha sido mal-diagnosticada, seu perfil epidemiológico é semelhante ao da literatura, assim como os fatores de risco, que poderiam ser reduzidos com campanhas preventivas. Investigar a SMSL em países em desenvolvimento requer estratégias especiais para evitar erros de diagnóstico.J Pediatr (Rio J). 2011;87(2):115-122 Não foram declarados conflitos de interesse associados à publicação deste artigo.Como citar este artigo: Pinho AP, Nunes ML. Epidemiological profile and strategies for diagnosing SIDS in a developing country. J Pediatr (Rio J). 2011;87(2):115-122.Artigo submetido em 13.09.10, aceito em 30.11.10.

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Sudden unexpected death in infancy: epidemiologically determined risk factors related to pathological classification

Cited by 18 publications

References 16 publications

Perfil epidemiológico e estratégias para o diagnóstico de SMSL em um país em desenvolvimento

Perfil epidemiológico e estratégias para o diagnóstico de SMSL em um país em desenvolvimento

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

Epidemiological profile and strategies for diagnosing SIDS in a developing country: a case-control study

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