P GDD TESTS

Table demonstrating recommendations for first-line investigations for global developmental delay from four guidelines and our proposed recommendations

Tests category	UK current McDonald et al8	UK proposed	USA Moeschler and Shevell4	Irish O’Byrne et al 10	Australian Silove et al9
Genetic	Karyotype Frag X	Microarray Frag X (selected)	Microarray Frag X	Microarray Frag X (selected) Chromosomal: banded analysis (selected)	Microarray Frag X
Biochemical and metabolic
Blood tests	U&E CK TFT Lead Urate FBC Ferritin Biotinidase	U&E CK TFT Lead (If PICA) FBC Ferritin (dietary restriction) AA Homocysteine Acylcarnitine profile	TFT Lead (selected) AA Homocysteine Acylcarnitine profile	U&E CK TFT LFT FBC Bone profile Urate Glucose, lactate Venous blood gas AA Homocysteine (selected if raised methionine)	U&E CK TFT FBC Lead AA
Urine tests		OA GAG Oligosaccharides Creatine/GAA Purine and pyramidines	OA GAG Oligosaccharides Creatine/GAA Purine and pyramidines	OA GAG Paired urate +Urate/creatinine	OA GAG

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AA, amino acids; ASD, autistic spectrum disorder; CK, creatine kinase; FBC, full blood count; Frag X, fragile X; GAG, glycosaminoglycans; LFT, liver function test; OA, organic acids; TFT, thyroid function tests; U&E, urea and electrolytes.