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Abstract：
BACKGROUND: Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty.
OBJECTIVE: A guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID.
UNASSIGNED: A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs.
CONCLUSIONS: It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.
OBJECTIVE: A guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID.
UNASSIGNED: A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs.
CONCLUSIONS: It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.
摘要：
背景：对患者的调查，特别是儿童,由于缺乏专业中心的明确指导，无法解释的全球发育迟缓（GDD）/学习障碍（LD）一直具有挑战性。对罕见疾病的知识有限以及对适当调查的目的或局限性的了解不足是造成这种困难的一些主要原因。
目的：成立了一个指南开发小组，一线代谢，对不明原因GDD/ID的儿童和成人进行遗传和放射学调查。
■进行了全面的文献检索，由指导委员会和一线评估和遗传的最佳实践方案进行评估和审查，代谢和放射学检查是在考虑诊断结果后决定的，实用性,可治疗性和成本。
结论：希望这些建议将成为一线代谢的国家指南，对不明原因GDD/ID患者的遗传和放射学调查。
目的：成立了一个指南开发小组，一线代谢，对不明原因GDD/ID的儿童和成人进行遗传和放射学调查。
■进行了全面的文献检索，由指导委员会和一线评估和遗传的最佳实践方案进行评估和审查，代谢和放射学检查是在考虑诊断结果后决定的，实用性,可治疗性和成本。
结论：希望这些建议将成为一线代谢的国家指南，对不明原因GDD/ID患者的遗传和放射学调查。
