Table 1

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

Tests categoryUK current
McDonald et al 8
UK proposedUSA
Moeschler and Shevell4
Irish
O’Byrne et al 10
Australian
Silove et al 9
GeneticKaryotype
Frag X
Microarray
Frag X (selected)
Microarray
Frag X
Microarray
Frag X (selected)
Chromosomal: banded analysis (selected)
Microarray
Frag X
Biochemical and metabolic
Blood testsU&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 testsOA
GAG
Oligosaccharides
Creatine/GAA
Purine and pyramidines
OA
GAG
Oligosaccharides
Creatine/GAA
Purine and pyramidines
OA
GAG
Paired urate
+Urate/creatinine
OA
GAG
  • 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.