Investigating developmental delay/impairment

Pre-school children presenting to developmental paediatric services because of concerns that they are not peer-equivalent is a well recognised clinical scenario, and yet the approach to investigation varies widely. Evaluation depends on thorough history taking, careful clinical examination and astute observation of social and play skills. An investigative pathway needs to be evidence-based but also pragmatic; tailored to the child whilst acknowledging the benefit of validated screening tests. Although the overall positive yield is small, it must not be forgotten that negative test results also have value. Both clinician and parents will be reassured by the exclusion of genetic, metabolic and structural aetiologies in their search for answers. It is increasingly acknowledged that there are more subtle presentations of recognised disorders and the new generation of genetic tests and neurological imaging is allowing earlier and more accurate diagnosis. This may afford opportunities for amelioration of the condition in the affected child, together with more accurate genetic counselling for the family and indeed the child themselves. The search for an answer should never stop.