PDF(Pubmed)
Abstract：
Background Global developmental delay (GDD) is common and has a significant impact on affected children, families, and society. Understanding its etiology is crucial for management and prevention strategies. However, data on the etiological profile of GDD in developing countries are limited. This study aimed to identify the etiological profile of GDD at a tertiary care hospital in India. Methodology This observational study included children aged three months to five years with a developmental quotient below 70%. Data on demographics, clinical features, relevant investigations, and diagnoses were collected. Etiologies were categorized into prenatal, perinatal, postnatal, and unknown causes. Informed consent was obtained from the parents. Results A total of 52 children, with a median age of 15.5 months, were included in the study, with 69.2% being males. Prenatal causes accounted for half of the cases, with genetic abnormalities (32.7%) and chromosomal abnormalities (7.7%) being prominent. Perinatal causes were the next most common (34.6%), including hypoxic-ischemic encephalopathy (26.7%). Postnatal causes were rare (3.8%). The overall etiological yield was 88.4%, with some cases remaining unidentified. Conclusions Prenatal causes, including genetic and chromosomal abnormalities, are common in GDD. The utilization of genetic testing enhances etiological yield. Hypoxic-ischemic encephalopathy remains a significant factor and highlights the importance of perinatal care in preventing developmental delays. Large multicentric studies are needed for a comprehensive database of etiological profiles.
摘要：
背景全球发育迟缓（GDD）是常见的，对受影响的儿童有重大影响，家庭,和社会。了解其病因对于管理和预防策略至关重要。然而,发展中国家GDD病因学资料有限。这项研究旨在确定印度三级医院GDD的病因。方法学这项观察性研究包括3个月至5岁发育商低于70%的儿童。人口统计数据，临床特征,相关调查,并收集诊断结果。病因分为产前，围产期,产后,和未知的原因。获得了父母的知情同意。结果共52名儿童,平均年龄为15.5个月，被纳入研究，69.2%是男性。产前原因占病例的一半,遗传异常(32.7%)和染色体异常(7.7%)突出。围产期原因其次是最常见的（34.6％），包括缺氧缺血性脑病（26.7%）。产后原因很少见（3.8％）。总病因学产量为88.4%，有些案件身份不明。结论产前原因,包括遗传和染色体异常，在GDD中很常见。基因检测的利用提高了病因学产量。缺氧缺血性脑病仍然是一个重要因素，并强调了围产期护理在预防发育迟缓中的重要性。需要进行大规模的多中心研究，以建立全面的病因数据库。
