Tirosh Emanuel, Jaffe Michael
The Hannah Khoushy Child Development Center and The Bruce Rappaport Faculty of Medicine, The Technion, The Israeli Institute of Technology, Haifa, Israel.
Dev Disabil Res Rev. 2011;17(2):85-92. doi: 10.1002/ddrr.1103.
Pediatricians play a leading role in the detection, diagnosis, and management of children with global developmental delay (GDD) and mental retardation (MR). Assessment, investigation, and consultation with the family are the prime responsibility of the developmental pediatrician, in collaboration with a multidisciplinary team. The model used by the developmental pediatrician depends on the community health framework. Significant progress has been recently achieved in identifying underlying etiologies, using a variety of laboratory tests including neuroimaging and genetic and metabolic investigations. Although being used to achieve an acceptable yield, this progress in diagnostic investigations should be associated with proper weighing of the value of each test to the diagnostic process. Optimal utilization of this rapidly expanding knowledge can only be accomplished in the setting of in-depth clinical evaluation, including a thoughtful assessment of the child and family needs. In this article, the literature on the process of clinical evaluation and laboratory work-up of the child with GDD/MR is reviewed, with an emphasis on a multidisciplinary team approach to the child and family needs. An integrated model used by the developmental pediatrician that relates to the process of evaluation and management as well as the consequences of the diagnosis on the child, his/her family, and the community is suggested.
儿科医生在全球发育迟缓（GDD）和智力障碍（MR）儿童的检测、诊断及管理中发挥着主导作用。发育儿科医生的主要职责是与多学科团队协作，对患儿进行评估、检查并与家庭进行沟通。发育儿科医生采用的模式取决于社区卫生框架。最近，通过使用包括神经影像学、基因和代谢检查在内的各种实验室检测手段，在确定潜在病因方面取得了重大进展。尽管这些诊断检查的进展有助于提高诊断率，但在诊断过程中，应适当权衡每项检查的价值。只有在深入的临床评估背景下，包括对儿童及其家庭需求进行周全评估，才能实现对这一迅速扩展的知识的最佳利用。本文回顾了有关GDD/MR儿童临床评估和实验室检查过程的文献，重点强调了针对儿童及其家庭需求的多学科团队方法。文中还提出了发育儿科医生使用的一种综合模式，该模式涉及评估和管理过程以及诊断对儿童、其家庭和社区的影响。
