AlMutiri Rowim, Malta Maisa, Shevell Michael I, Srour Myriam
Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
National Neuroscience Institute, King Fahad Medical City, Riyadh 12231, Saudi Arabia.
Children (Basel). 2023 Feb 21;10(3):414. doi: 10.3390/children10030414.
Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis. However, when initial history and examination fail to identify a probable underlying etiology, further genetic testing is warranted. In recent years, genetic testing has been shown to be the single most important diagnostic modality for clinicians evaluating children with non-syndromic GDD/ID. In this review, we discuss different genetic testing currently available, review common underlying copy-number variants and molecular pathways, explore the recent evidence and recommendations for genetic evaluation and discuss an approach to the diagnosis and management of children with non-syndromic GDD and ID.
全球发育迟缓（GDD）和智力残疾（ID）是照顾儿童的医生遇到的两种最常见的症状。GDD/ID分为非综合征性GDD/ID（其中GDD/ID是唯一明显的临床特征）或综合征性GDD/ID（其中存在其他临床特征或合并症）。对患有GDD和ID的儿童进行仔细评估，从详细病史开始，然后进行全面检查，仍然是病因诊断的基石。然而，当初始病史和检查未能确定可能的潜在病因时，有必要进行进一步的基因检测。近年来，基因检测已被证明是临床医生评估非综合征性GDD/ID儿童的最重要的单一诊断方式。在本综述中，我们讨论了目前可用的不同基因检测方法，回顾了常见的潜在拷贝数变异和分子途径，探讨了基因评估的最新证据和建议，并讨论了非综合征性GDD和ID儿童的诊断和管理方法。
