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Considerable resources are spent on determining the cause of early developmental impairment (EDI) in children, yet the most appropriate investigations are unknown. Significant differences in opinion exist between UK clinicians on whether children with EDI are investigated appropriately and on the value of specific investigations.1 Algorithms on how to investigate EDI have been proposed over the last 20 years, and the number of recommended first-line laboratory investigations has increased,2–4 without good evidence on their usefulness or cost efficiency. We obtained guidelines for investigating EDI from 23 centres as part of a survey of UK clinicians1 and found variation in recommended investigations, with only karyotype/microarray being consistent across all guidelines (figure 1).
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