Aetiological investigations in early developmental impairment: Are they worth it?

Objective To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations.Design Retrospective case note review.Setting Community, neurodisability and neurology department at a UK tertiary centre.Participants Children referred to determine the aetiology of EDI where a cause was not evident on history and examination. Participants were divided into two groups: EDI and no additional features (EDI−) and EDI with additional features (EDI+).Main outcome measures The frequency a cause was found for the child’s EDI and which tests contributed to a diagnosis.Results 699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI− were less likely to be investigated (χ2=12.5,