Shan Ling, Bai Miao-Shui, Dong Han-Yu, Feng Jun-Yan, Wang Tian-Tian, Mohamed Zakaria Ahmed, Miao Chun-Yue, Jia Fei-Yong
Department of Developmental and Behavioral Pediatrics, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
The Child Health Clinical Research Center of Jilin Province, Changchun, China.
Pediatr Res. 2025 Apr 30. doi: 10.1038/s41390-025-04085-y.
Global developmental delay (GDD) is associated with genetic abnormalities; however, the specific clinical and developmental features that should trigger genetic testing remain unclear. In this study, we explored this issue.
A total of 126 children with GDD were recruited for this study. Comprehensive medical histories and physical examination data were collected for all participants. The Chinese adaptation of the Griffiths Mental Development Scales was used to assess neurodevelopmental outcomes. Genetic variations were analyzed through trio-based whole exome sequencing and proband whole genome sequencing. A comparative analysis of the clinical characteristics was conducted between children with gene-positive/suspicious positive results (i.e., the mutation is deleterious or potentially deleterious, and the inheritance pattern and phenotype are matched) and those with negative results.
The positive/suspicious positive rate of genes was 46.8%. The locomotor, performance, and general quotients were lower in the gene-positive/suspicious positive group than the gene-negative group (p < 0.05), and the lower the locomotor ability, the higher the gene positive/suspicious positive rate (p < 0.05).
Children with GDD and genetic abnormalities exhibited poorer locomotor, performance, and general developmental quotients compared to those without genetic mutations. Furthermore, individuals with poorer locomotor ability should be prioritized for genetic testing.
This study aimed to compare the clinical and developmental profiles of children with GDD who test positive or suspiciously positive for genetic abnormalities with those who test negative, and to identify key clinical features that may serve as indicators for genetic testing. It highlights that children with GDD and genetic abnormalities exhibited poorer locomotor, performance, and general developmental quotients compared to those without genetic mutations. Individuals with poorer locomotor ability should be prioritized for genetic testing. The findings supplement existing literature by providing insights to guide clinicians on determining which children with GDD should be considered for genetic testing.
全球发育迟缓（GDD）与基因异常相关；然而，应触发基因检测的具体临床和发育特征仍不明确。在本研究中，我们探讨了这个问题。
本研究共招募了126名GDD儿童。收集了所有参与者的全面病史和体格检查数据。使用格里菲斯心理发展量表的中文版评估神经发育结果。通过基于三联体的全外显子组测序和先证者全基因组测序分析基因变异。对基因阳性/可疑阳性结果（即突变有害或潜在有害，且遗传模式和表型匹配）的儿童与基因阴性结果的儿童进行临床特征的比较分析。
基因阳性/可疑阳性率为46.8%。基因阳性/可疑阳性组的运动、操作和总商数低于基因阴性组（p<0.05），运动能力越低，基因阳性/可疑阳性率越高（p<0.05）。
与无基因突变的儿童相比，患有GDD和基因异常的儿童运动、操作和总体发育商数较差。此外，应优先对运动能力较差的个体进行基因检测。
本研究旨在比较基因异常检测呈阳性或可疑阳性的GDD儿童与检测呈阴性的儿童的临床和发育概况，并确定可能作为基因检测指标的关键临床特征。研究强调，与无基因突变的儿童相比，患有GDD和基因异常的儿童运动、操作和总体发育商数较差。应优先对运动能力较差的个体进行基因检测。这些发现通过提供指导临床医生确定哪些GDD儿童应考虑进行基因检测的见解，补充了现有文献。
