%0 Journal Article
%T Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
%A O'Byrne JJ
%A Lynch SA
%A Treacy EP
%A King MD
%A Betts DR
%A Mayne PD
%A Sharif F
%J Ir J Med Sci
%V 185
%N 1
%D Feb 2016
%M 25894277
%F 2.089
%R 10.1007/s11845-015-1284-7
%X <B>BACKGROUND: </B>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.<BR><B>OBJECTIVE: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>CONCLUSIONS: </B>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.