Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-19 DOI:10.1055/a-2430-0494

Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli

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Abstract

Background: Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the heterogeneous etiology of GDD, diagnostic procedures and algorithms are complex and diverse. The aim of our study was to investigate the diagnostic yield of genetic, metabolic, and imaging studies in establishing the etiology of unexplained GDD (UGDD).

Methods: In this retrospectively observational study, we examined the medical records of all children diagnosed with UGDD at the Department of Pediatric Neurology, University Medical Centre Ljubljana, Slovenia, between January and December 2019. We evaluated the effectiveness of various genetic, metabolic, and magnetic resonance imaging (MRI) tests in identifying the underlying cause of GDD. Additionally, we assessed subgroups of patients to determine whether any of the studied tests were particularly beneficial based on their clinical symptoms.

Results: A total of 123 patients met the inclusion criteria, with a median age of 4.3 years (range, 0-16 years), of which 71 (57.7%) were males. Genetic diagnosis was established in 47.1% (58/123) of patients. Metabolic laboratory testing did not identify a metabolic disease in any of the tested participants (114/123) and MRI was critical for diagnosis in only 1/81 (1.2%) patient.

Conclusion: Our findings strongly suggest that genetic testing surpasses MRI and metabolic testing in establishing the etiology of UGDD in a pediatric neurology outpatient setting. This information will help guide the diagnostic evaluation of these children.

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小儿神经科门诊对不明原因的全面发育迟缓儿童的诊断方法。

背景：全面发育迟缓（GDD）是一种常见的儿科疾病，影响多达 3% 的儿童。由于 GDD 的病因多种多样，诊断程序和算法也复杂多样。我们的研究旨在调查遗传学、代谢学和影像学研究在确定不明原因 GDD（UGDD）病因方面的诊断率：在这项回顾性观察研究中，我们检查了斯洛文尼亚卢布尔雅那大学医学中心儿科神经病学系在 2019 年 1 月至 12 月期间诊断出的所有 UGDD 儿童的病历。我们评估了各种遗传、代谢和磁共振成像（MRI）检查在确定 GDD 潜在病因方面的有效性。此外，我们还对患者分组进行了评估，以确定根据患者的临床症状，所研究的测试中是否有任何测试特别有益：共有 123 名患者符合纳入标准，中位年龄为 4.3 岁（0 - 16 岁），其中 71 名（57.7%）为男性。47.1%的患者（58/123）确诊为遗传病。代谢实验室检测未发现任何受检者（114/123）患有代谢性疾病，核磁共振成像对诊断至关重要的患者仅有 1/81 (1.2%)：我们的研究结果有力地表明，在小儿神经科门诊中，基因检测在确定原因不明的全面发育迟缓的病因方面优于核磁共振成像和代谢检测。这些信息将有助于指导对这些儿童的诊断评估。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.