O'Byrne J J, Lynch S A, Treacy E P, King M D, Betts D R, Mayne P D, Sharif F
Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin 1, Ireland.
Ir J Med Sci. 2016 Feb;185(1):241-8. doi: 10.1007/s11845-015-1284-7. Epub 2015 Apr 21.
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.
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.
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.
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.
由于缺乏专业中心的明确指导，对患有不明原因的全面发育迟缓（GDD）/学习障碍（LD）的患者，尤其是儿童进行调查一直具有挑战性。对罕见病的了解有限以及对适当检查的目的或局限性认识不足是造成这一困难的一些主要原因。
成立了一个指南制定小组，以推荐对患有不明原因的GDD/智力障碍（ID）的儿童和成人进行适当的一线代谢、遗传和放射学检查。
进行了全面的文献检索，由指南委员会进行评估和审查，并在考虑诊断率、实用性、可治疗性和成本后，确定了一线评估以及遗传、代谢和放射学检查的最佳实践方案。
希望这些建议将成为对患有不明原因的GDD/ID患者进行一线代谢、遗传和放射学检查的国家指南。
