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坎蒂儿童医院全球发育迟缓的病因诊断率

Etiological Yield of Global Developmental Delay in Kanti Children's Hospital.

作者信息

Jha Anshu

机构信息

Department of Pediatrics, Kanti Children's Hospital, Kathmandu, Nepal.

出版信息

JNMA J Nepal Med Assoc. 2018 Sep-Oct;56(213):875-878. doi: 10.31729/jnma.3734.

Abstract

INTRODUCTION

Global developmental delay is the common pediatric problem having spectrum of underlying causes. Etiological diagnosis is very vital for providing information regarding pathogenesis, prognosis, recurrence, risk and treatment options. The aim of this study was to determine etiological yield of global developmental delay.

METHODS

This descriptive cross-sectional study included children of 6 months to 5 year of age with global developmental delay referred to pediatric outpatient Neurology clinic of Kanti Children's Hospital. Diagnostic study included detailed history, examination followed by required investigations neuroimaging, electroencephalogram, hearing and visual assessment. Thyroid function test, karyotyping and enzyme essay were done in selected patients depending on the condition.

RESULTS

In this study, 110 patients were evaluated out of which 70 were male and 40 were female. An etiological diagnosis was determined in 86 (78%) of the patients classified under following categories perinatal asphyxia 49 (44.5%), post infectious sequelae 11 (10%), cerebral dysgenesis 6 (5.45%), genetic syndrome 6 (5.45%), metabolic causes 5 (4.54%), neurocutaneous syndrome 4 (3.63%) and non-specific leucodystrophy changes . Etiology was unknown in 24 (21 %) of the patients.

CONCLUSIONS

A specific etiology can be determined in majority of cases of global developmental delay after comprehensive evaluation. The most common etiologies were perinatal asphyxia and post infectious sequelae.

摘要

引言

全球发育迟缓是常见的儿科问题,其潜在病因范围广泛。病因诊断对于提供有关发病机制、预后、复发、风险和治疗选择的信息至关重要。本研究的目的是确定全球发育迟缓的病因检出率。

方法

这项描述性横断面研究纳入了转诊至坎蒂儿童医院儿科门诊神经科的6个月至5岁全球发育迟缓儿童。诊断研究包括详细的病史、检查,随后进行所需的神经影像学、脑电图、听力和视力评估等检查。根据病情,对部分患者进行甲状腺功能测试、染色体核型分析和酶分析。

结果

本研究共评估了110例患者,其中男性70例,女性40例。在86例(78%)患者中确定了病因诊断,病因分类如下:围产期窒息49例(44.5%)、感染后后遗症11例(10%)、脑发育异常6例(5.45%)、遗传综合征6例(5.45%)、代谢原因5例(4.54%)、神经皮肤综合征4例(3.63%)和非特异性白质营养不良改变。24例(21%)患者病因不明。

结论

经过全面评估,大多数全球发育迟缓病例可确定具体病因。最常见的病因是围产期窒息和感染后后遗症。

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