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.
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。