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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

ABSTRACT: The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available.

SUBMITTER: Yamamoto T

PROVIDER: S-EPMC5471402 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Yamamoto Takuma T Mishima Hiroyuki H Mizukami Hajime H Fukahori Yuki Y Umehara Takahiro T Murase Takehiko T Kobayashi Masamune M Mori Shinjiro S Nagai Tomonori T Fukunaga Tatsushige T Yamaguchi Seiji S Yoshiura Koh-Ichiro KI Ikematsu Kazuya K

Molecular genetics and metabolism reports 20151002

The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic a ...[more]

PMID: 28649538

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Project description:ObjectiveOgival palate (i.e., a narrow and high-arched palate) is usually described in obstructive breath disorder but has been found in infants unexpectedly deceased. We studied the association between ogival palate and sudden unexpected death in infancy (SUDI) on the basis of a computed tomography (CT) evaluation.MethodsWe conducted a monocentric case-control study of children under 2 years of age who died of SUDI, for which a head CT scan and an autopsy were performed between 2011 and 2018. Each case was matched by sex and age (± 30 days) to two controls selected among living children in the same center who benefited from a cranio-encephalic CT scan. Four parameters of the hard palate were measured by CT: height, width, length, and sagittal angle; the height/width ratio was calculated. The presence of an ogival palate was also subjectively evaluated by the radiologists, independently from the measurements. Standardized odds ratios (OR) were calculated using conditional logistic regression models, all expressed for +1 standard deviation (SD).ResultsThirty-two deceased children were matched to 64 living control children. Mean ages were 5.0 and 5.3 months, respectively. Twenty-eight cases were considered to have died as a result of SIDS. The mean heights of the hard palate were significantly higher in the deceased children [4.1 (± 0.7) millimeters (mm)] than in the living children [3.2 (± 0.6) mm], with OR (+1SD) = 4.30 (95% confidence interval [CI], 2.04-9.06, P = 0.0001). The mean widths of the hard palate were 21.0 (± 1.9) mm and 23.2 (± 2.1) mm, respectively, with OR = 0.15 (95% CI, 0.06-0.40, P = 0.0001). The mean sagittal angles were significantly more acute in deceased children [134.5° (± 9.3)] than in living children [142.9° (± 8.1)], with OR = 0.28 (95% CI, 0.14-0.56, P = 0.0003). The mean height/width ratios were 19.8 (± 3.7) and 14.1 (± 3.3), respectively, with OR = 6.10 (95% CI, 2.50-14.9, P = 0.0001). The hard palate was subjectively considered as ogival in 59.4% (19/32) of the cases versus 12.5% (8/64) of the controls.ConclusionRadiological features of the ogival palate were strongly associated with SUDI. This observation still needs to be confirmed and the corresponding clinical features must be identified.

Project description:Background: The incidence of sudden unexpected death in infancy (SUDI), which includes sudden infant death syndrome (SIDS), has declined in developed countries since the 1980s, including the Netherlands. To identify improvement opportunities in SUDI prevention, we monitored the adherence of parents to the prevention advice on infant care habits over the past 20 years, especially in relation to the SUDI incidence over time. Potential changes in parental adherence between the latest surveys are of specific interest, as these indicate where current focus is needed. Methods: Description of the prevalence of infant care factors related to the risk of SUDI, assessed from five Dutch national surveys from 1999 to 2017 among parents of infants under 12 months, and analysis of the potential differences in these prevalences between the two latest surveys in 2010/11 and 2017 with a z-test. Results: Supine sleeping position decreased from the highest prevalence of 92% in 2010/11, to 83% in 2017. Sleep sack use has increased to 55%, the highest prevalence up to now. Avoiding a duvet has remained reasonably stable since 2002/03 and now 95% of parents do not use a duvet. The prevalence of room-sharing, without sharing the bed, increased from 14% in 1999 to the highest prevalence in 2017 (31%). However, also bed-sharing almost doubled from 5.6% in 2010/11 to 10% in 2017. Breastfeeding decreased between 1999 and 2010/11, but increased from 34% in 2010/11 to 42% in 2017. An increased prevalence of mothers who abstained from smoking during pregnancy, as well as both parents not smoking, was observed, although mostly higher educated parents showed this beneficial behavior. Discussion and Conclusion: Much has already been achieved first by decreasing prone sleeping since the 80's, and subsequently promoting supine as the safest sleep position. The decrease in duvet use and smoking, and an increase in breastfeeding have also had impact. Indications of a recent decreased prevalence of the supine sleeping position and higher prevalence of bed-sharing might relate to the slightly increasing SUDI incidence in the Netherlands. Renewed attention for prevention of SUDI and specific advice targeting high-risk groups is needed. Modern, picture driven information via internet is recommended.

Dataset Information

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Publications

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

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