SIDS and Sleep Apnoea Research Group, The Children's Hospital at Westmead, Cnr Hawkesbury Road and Hainsworth Street, Locked Bag 4001, Westmead, NSW 2145, Australia.
SIDS and Sleep Apnoea Research Group, The Children's Hospital at Westmead, Cnr Hawkesbury Road and Hainsworth Street, Locked Bag 4001, Westmead, NSW 2145, Australia.
EBioMedicine. 2022 Jun;80:104041. doi: 10.1016/j.ebiom.2022.104041. Epub 2022 May 6.
Autonomic dysfunction has been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). Butyrylcholinesterase (BChE) is an enzyme of the cholinergic system, a major branch of the autonomic system, and may provide a measure of autonomic (dys)function. This study was undertaken to evaluate BChE activity in infants and young children who had died from Sudden Infant Death or Sudden Unexpected Death.
In this case-control study we measured BChE activity and total protein in the eluate of 5μL spots punched from the dried blood spots taken at birth as part of the newborn screening program. Results for each of 67 sudden unexpected deaths classified by the coroner (aged 1 week-104 weeks) = Cases, were compared to 10 date of birth - and gender-matched surviving controls (Controls), with five cases reclassified to meet criteria for SIDS, including the criterion of age 3 weeks to 1 year.
Conditional logistic regression showed that in groups where cases were reported as "SIDS death" there was strong evidence that lower BChE specific activity (BChEsa) was associated with death (OR=0·73 per U/mg, 95% CI 0·60-0·89, P=0·0014), whereas in groups with a "Non-SIDS death" as the case there was no evidence of a linear association between BChEsa and death (OR=1·001 per U/mg, 95% CI 0·89-1·13, P=0·99).
BChEsa, measured in dried blood spots taken 2-3 days after birth, was lower in babies who subsequently died of SIDS compared to surviving controls and other Non-SIDS deaths. We conclude that a previously unidentified cholinergic deficit, identifiable by abnormal -BChEsa, is present at birth in SIDS babies and represents a measurable, specific vulnerability prior to their death.
All funding provided by a crowd funding campaign https://www.mycause.com.au/p/184401/damiens-legacy.
自主神经功能障碍与婴儿猝死综合征（SIDS）的病理生理学有关。丁酰胆碱酯酶（BChE）是胆碱能系统的一种酶，是自主神经系统的主要分支，它可能提供一种自主（功能）障碍的测量方法。本研究旨在评估死于婴儿猝死或意外猝死的婴儿和幼儿的 BChE 活性。
在这项病例对照研究中，我们测量了通过新生儿筛查计划在出生时采集的干血斑中 5μL 斑点洗脱物中的 BChE 活性和总蛋白。对 67 例由验尸官分类的意外猝死（年龄 1 周至 104 周）的结果进行了分析=病例，与 10 例出生日期和性别匹配的存活对照（对照）进行了比较，其中 5 例重新分类以符合 SIDS 的标准，包括年龄 3 周至 1 岁的标准。
条件逻辑回归显示，在报告为“SIDS 死亡”的病例组中，BChE 比活对照组（P=0·0014）与死亡的关系更密切（OR=0·73 每 U/mg，95%CI 0·60-0·89），而在“非 SIDS 死亡”的病例组中，BChE 与死亡之间没有线性关联的证据（OR=1·001 每 U/mg，95%CI 0·89-1·13，P=0·99）。
在出生后 2-3 天采集的干血斑中测量的 BChEsa，在随后死于 SIDS 的婴儿中低于存活对照和其他非 SIDS 死亡的婴儿。我们得出结论，在 SIDS 婴儿中，出生时存在一种以前未被识别的胆碱能缺陷，可以通过异常的-BChEsa 来识别，这是一种在他们死亡之前可以测量到的特定脆弱性。
所有资金均由众筹活动提供 https://www.mycause.com.au/p/184401/damiens-legacy。
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