• J J O'Byrne, S A Lynch, E P Treacy, M D King, D R Betts, P D Mayne, and F Sharif.
• Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland. obyrnej@tcd.ie.
• Ir J Med Sci. 2016 Feb 1; 185 (1): 241-8.

BackgroundInvestigation 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.AimsA guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID.Methods And RecommendationsA 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.ConclusionIt 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.

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