Aims Global developmental delay is a significant delay in ≥ 2 developmental domains. The differential diagnosis is wide and clinicians are advised to tailor investigations according to history and examination findings. However, often there are no clinical clues which could lead to a wide variation in practice and the aetiology remaining undiagnosed. This is particularly significant for treatable causes, such as inborn errors of metabolism. In our region guidelines on investigation of global developmental delay exist to guide practice (2005).
This study ascertained if regional guidelines were being referred to and followed and also reviews the evidence for investigation of global developmental delay, since biochemical and metabolic causes may be treatable.
Methods An online questionnaire was emailed to 37 Consultant Community Paediatricians in our region. Respondents were asked if they accessed guidelines to appropriately tailor investigations of children with developmental delay. They were also asked to select investigations for a 3 year-old boy with global developmental delay, but no other clinical clues on history and examination.
A PubMed search for guidelines AND developmental delay OR developmental impairment was performed. Reference lists of relevant papers were also searched. Results from the UK published within the last 10 years were used.
Results 25 Consultant Community Paediatricians (68%) completed the questionnaire. 52% accessed regional guidelines and 56% accessed other guidelines. Figure 1 shows that approaches to the investigation of global developmental delay were inconsistent and did not follow regional guidelines. In the scenario given, the guidelines recommend full blood count, urea and electrolytes, liver function tests, creatine kinase, karyotype (2005), Fragile X syndrome test, ophthalmological and audiological assessment. Five published guidelines were identified which are largely based on expert opinion and which exhibit variation in investigations for our clinical scenario.
Conclusion There is a wide variation in the approach to investigating children with developmental delay in our region. New regional guidelines are being produced. The importance of detecting rare, treatable diseases needs to be carefully balanced with the implications of overinvestigation.