Communicating a new ornithine transcarbamylase deficiency diagnosis — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new ornithine transcarbamylase deficiency diagnosis means for their neonate who survived a hyperammonaemic crisis, why the ammonia was so dangerous, what the emergency and long-term management involves, the role of liver transplantation, and what the mother's carrier status means for her health and future pregnancies — while addressing guilt, the search for a cure, and the fear of recurrence.

osce communication and shared decision-making3 min readVerification in progress

Prompt

The parents of a five-day-old boy sit with you in the neonatal unit. He was well at birth but deteriorated at 48 hours with lethargy, vomiting and seizures; his ammonia was 580 micromoles per litre. He was dialysed and stabilised, and the metabolic work-up has confirmed ornithine transcarbamylase deficiency with a high urinary orotic acid and a pathogenic OTC variant. His mother has now tested positive for the same variant. The parents are frightened, feel the mother is somehow to blame, have read about experimental 'cures' online, and are terrified about future pregnancies. Counsel them.

Task

Counsel the parents. You have five minutes. Demonstrate an organised, empathic, and accurate explanation that addresses the four questions a fellowship communication station rewards: why the ammonia was so dangerous and what happened to their son, what the immediate and long-term plan is, what the mother's carrier status means for her and for future pregnancies, and what the role of liver transplantation is. The management and counselling framework follows the Häberle first-revision guidelines. ^[1]

References4Show

[1]Häberle J, Burlina A, Chakrapani A, Dixon M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis, 2019.PMID 30982989
[5]Raina R, Bedoyan JK, Lichter-Konecki U, Jouvet P, et al. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. Nat Rev Nephrol, 2020.PMID 32269302
[10]García Vega M, Andrade JD, Morais A, et al. Urea cycle disorders and indications for liver transplantation. Front Pediatr, 2023.PMID 36937980
[12]Lo RS, Cromie GA, Tang M, et al. The functional impact of 1,570 individual amino acid substitutions in human OTC. Am J Hum Genet, 2023.PMID 37146589

Communicating a new ornithine transcarbamylase deficiency diagnosis — OSCE

osce communication and shared decision-making3 min readVerification in progress

Task

References4Show

[1]Häberle J, Burlina A, Chakrapani A, Dixon M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis, 2019.PMID 30982989
[5]Raina R, Bedoyan JK, Lichter-Konecki U, Jouvet P, et al. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. Nat Rev Nephrol, 2020.PMID 32269302
[10]García Vega M, Andrade JD, Morais A, et al. Urea cycle disorders and indications for liver transplantation. Front Pediatr, 2023.PMID 36937980
[12]Lo RS, Cromie GA, Tang M, et al. The functional impact of 1,570 individual amino acid substitutions in human OTC. Am J Hum Genet, 2023.PMID 37146589