Explain the workup and the treatable-subset principle to the parents of a regressing child — OSCE

Candidate brief

You are the paediatric registrar seeing this family in clinic today. The task is to explain, in plain language, that their child's loss of previously acquired skills is neurological regression and that it requires a systematic search for a cause - some of which are treatable. You must convey honestly that autism is one possibility but that a number of treatable inborn errors of metabolism must be excluded before that label is accepted, outline the tiered workup and why both parents are tested alongside the child (trio exome), acknowledge the parents' fear and the relative's comment without dismissing them, and agree a clear next-step plan with a named contact and a follow-up appointment. The consultation is ten minutes. ^{[1] [3]}