Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study.
Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study.
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非缺氧缺血性脑病所致新生儿脑病婴儿的特征、基因检测和诊断：队列研究。
DOI：
10.1016/j.jpeds.2023.113533
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Law,JanessaB
中科院分区：
文献类型：
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作者：
Lenahan,Arthur;Mietzsch,Ulrike;Wood,ThomasR;Callahan,KatharinePress;Weiss,ElliottM;Miller,DannyE;German,Kendell;Natarajan,Niranjana;Puia-Dumitrescu,Mihai;Esposito,Valentine;Kolnik,Sarah;Law,JanessaB
目的描述非缺氧缺血性脑病(Non-HIE NE)新生儿的临床表现和评估，并描述已发现的基因异常。研究设计：对2015-2019年间收治的193例NICU IV级非HIE新生儿进行回顾性队列研究。对于测试随时间的变化，采用Cochrane-Armitage趋势检验，采用Bonferroni校正的P值，组间比较采用Fisher精确检验。结果非HIE NE最常见的症状是音调异常，占47%(90/193)。10%(19/193)的人在出院前死亡，48%的幸存者(83/174)在出院时需要医疗设备。40%(77/193)的患者在住院期间接受了基因检测。在52项染色体研究、54项靶向测试和16项外显子组序列中，诊断准确率分别为10%、41%和69%，有和没有相关先天性异常和/或畸形特征的婴儿的诊断率没有差异。结论患有非HIE NE的新生儿发病率和死亡率较高，即使在没有其他检查结果的情况下，早期基因检测也可能受益。这项研究扩大了我们对非HIE NE的遗传条件的了解，这可能使家庭和护理团队能够预测个体的需求，允许及早启动有针对性的治疗，并促进围绕护理目标的决策。
ObjectiveTo characterize the presentation and evaluation of infants with neonatal encephalopathy (NE) not due to hypoxic-ischemic encephalopathy (non-HIE NE) and to describe the genetic abnormalities identified.Study designRetrospective cohort study of 193 non-HIE NE neonates admitted to a level IV NICU from 2015 through 2019. For changes in testing over time, Cochrane-Armitage test for trend was used with a Bonferroni-correctedP-value, and comparison between groups was performed using Fisher exact test.ResultThe most common symptom of non-HIE NE was abnormal tone in 47% (90/193). Ten percent (19/193) died prior to discharge, and 48% of survivors (83/174) required medical equipment at discharge. Forty percent (77/193) underwent genetic testing as an inpatient. Of 52 chromosomal studies, 54 targeted tests, and 16 exome sequences, 10%, 41%, and 69% were diagnostic, respectively, with no difference in diagnostic rates between infants with and without an associated congenital anomaly and/or dysmorphic feature. Twenty-eight genetic diagnoses were identified.ConclusionsNeonates with non-HIE NE have high rates of morbidity and mortality and may benefit from early genetic testing, even in the absence of other exam findings. This study broadens our knowledge of genetic conditions underlying non-HIE NE, which may enable families and care teams to anticipate the needs of the individual, allow early initiation of targeted therapies, and facilitate decisions surrounding goals of care.