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Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay.在全球发育迟缓评估中预测病因诊断率的临床特征分析
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Practice parameter: evaluation of the child with global developmental delay [RETIRED]: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.实践参数:对全面发育迟缓儿童的评估[已废止]:美国神经病学学会质量标准小组委员会及儿童神经病学会实践委员会报告
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Infant mortality and congenital anomalies from 1950 to 1994: an international perspective.1950年至1994年的婴儿死亡率与先天性异常:国际视角
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伊朗全球发育迟缓儿童的中枢神经系统结构异常

CNS structural anomalies in Iranian children with global developmental delay.

作者信息

Zamani Gholam Reza, Shervin-Badv Reza, Niksirat Ali, Alizadeh Houman

机构信息

Associate Professor of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Assistant Professor of Pediatric Neurology, Department of Pediatric Neurology, Zanjan University of Medical Sciences, Zanjan, Iran.

出版信息

Iran J Child Neurol. 2013 Winter;7(1):25-8.

PMID:24665286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3943080/
Abstract

OBJECTIVE

Central Nervous system (CNS) malformations are one of the most important causes of global developmental delay (GDD) in Children. About one percent of infants with GDD have an inherited metabolic disorder and 3-10 percent have a chromosomal disorder. This study aimed to survey the frequency of brain structural anomalies and their subtypes among the variety of etiologic factors in children with GDD in our patients.

MATERIALS & METHODS: This study used the results of neuroimaging studies [unenhanced brain Magnetic Resonance Imaging (MRI)] of all children who had been referred for evaluation of GDD to outpatient Clinic of Pediatric neurology at Children's Medical Center affiliated to Tehran University of Medical Science between September 2009 and September 2010.

RESULTS

In this study, unenhanced brain MRI was performed on 405 children, of which 80 cases (20 percent) had brain structural anomalies. In 8.7 percent of the cases, previous history of brain structural disorders existed in other children of the family and 20 percent of mothers had inadequate consumption of folate during pregnancy.

CONCLUSION

Based on the results of this study, unenhanced cranial MRI seems to be a fundamental part of evaluation in all children with GDD. Adequate folate consumption as prophylaxis as well as genetic counseling can be worthy for high-risk mothers who have previous history of CNS anomaly or miscarriage to avoid repeated CNS anomalies in their next pregnancies.

摘要

目的

中枢神经系统(CNS)畸形是儿童全球发育迟缓(GDD)的最重要原因之一。约1%的GDD婴儿患有遗传性代谢紊乱,3 - 10%患有染色体疾病。本研究旨在调查我们患者中GDD儿童各种病因因素中脑结构异常及其亚型的发生率。

材料与方法

本研究采用了2009年9月至2010年9月期间转诊至德黑兰医科大学附属儿童医学中心儿科神经门诊评估GDD的所有儿童的神经影像学研究结果[未增强脑磁共振成像(MRI)]。

结果

本研究中,对405名儿童进行了未增强脑MRI检查,其中80例(20%)有脑结构异常。在8.7%的病例中,家族中其他儿童有脑结构疾病既往史,20%的母亲在孕期叶酸摄入不足。

结论

基于本研究结果,未增强头颅MRI似乎是所有GDD儿童评估的基本组成部分。对于有CNS异常或流产既往史的高危母亲,充足的叶酸摄入作为预防措施以及遗传咨询可能有助于避免她们下一胎再次出现CNS异常。