Paeds Cases · genetics-dysmorphology-and-metabolism

Counsel a family on a new Prader-Willi diagnosis and the trajectory ahead — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new Prader-Willi syndrome diagnosis means for their hypotonic two-week-old neonate, why a normal karyotype did not detect it, what methylation testing involves, what the syndrome-specific management looks like including growth hormone therapy, why the molecular subtype matters for family recurrence risk, and what the trajectory from neonatal feeding failure to hyperphagia and obesity will look like — while addressing grief, guilt, fear about the future, and the demand for a cure.