Veronese Airin, Osredkar Damjan, Lovrečić Luca, Troha Gergeli Anja
Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
University of Ljubljana, Faculty of Medicine, Center for Developmental Neuroscience, Ljubljana, Slovenia.
Neuropediatrics. 2025 Apr;56(2):125-132. doi: 10.1055/a-2430-0494. Epub 2024 Oct 7.
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).
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.
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.
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.
全球发育迟缓（GDD）是一种常见的儿科疾病，影响着多达3%的儿童。由于GDD病因的异质性，诊断程序和算法复杂多样。我们研究的目的是调查基因、代谢和影像学研究在确定不明原因的GDD（UGDD）病因方面的诊断价值。
在这项回顾性观察研究中，我们检查了2019年1月至12月期间在斯洛文尼亚卢布尔雅那大学医学中心儿科神经科诊断为UGDD的所有儿童的病历。我们评估了各种基因、代谢和磁共振成像（MRI）测试在确定GDD潜在病因方面的有效性。此外，我们评估了患者亚组，以确定根据其临床症状，所研究的测试中是否有任何一项特别有益。
共有123名患者符合纳入标准，中位年龄为4.3岁（范围为0至16岁），其中71名（57.7%）为男性。47.1%（58/123）的患者建立了基因诊断。代谢实验室检测在任何受试参与者（114/123）中均未发现代谢疾病，MRI仅对1/81（1.2%）的患者诊断至关重要。
我们的研究结果强烈表明，在儿科神经科门诊环境中，基因检测在确定UGDD病因方面优于MRI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。
