Communicating a new MCAD deficiency diagnosis after a metabolic crisis — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new medium-chain acyl-CoA dehydrogenase deficiency diagnosis means for their toddler who survived a hypoketotic hypoglycaemic crisis, why the low glucose with absent ketones was so dangerous, what the emergency and long-term management involves, what the newborn screening result means for the family, and why the prognosis is excellent with fasting avoidance — while addressing parental guilt, the fear of recurrence, and the practicalities of the sick-day plan.

osce communication and shared decision-making2 min readVerification in progress

Prompt

The parents of a 14-month-old girl sit with you in the paediatric ward. She was admitted two days ago with vomiting, lethargy and a febrile illness, found to have a blood glucose of 1.8 mmol/L with inappropriately low ketones, and was treated with intravenous dextrose. The metabolic work-up has confirmed medium-chain acyl-CoA dehydrogenase deficiency with an elevated octanoylcarnitine (C8) and compound heterozygous pathogenic ACADM variants. The parents are frightened, feel they should have recognised the danger earlier, worry about brain damage, and are anxious about whether future children will be affected. 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: what happened to their daughter and why the low glucose with absent ketones was dangerous, what the immediate and long-term plan is, what the diagnosis means for the family and future pregnancies, and why the prognosis is excellent. The management and counselling framework follows the standard approach to fatty-acid oxidation disorders. ^[1]

References3Show

[1]Merritt JL 2nd, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med, 2018.PMID 30740404
[5]Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis, 2010.PMID 20049534
[7]Wilcken B, Haas M, Joy P, Wiley V, et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics, 2009.PMID 19620191

Communicating a new MCAD deficiency diagnosis after a metabolic crisis — OSCE

osce communication and shared decision-making2 min readVerification in progress

Task

References3Show

[1]Merritt JL 2nd, Norris M, Kanungo S. Fatty acid oxidation disorders. Ann Transl Med, 2018.PMID 30740404
[5]Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis, 2010.PMID 20049534
[7]Wilcken B, Haas M, Joy P, Wiley V, et al. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics, 2009.PMID 19620191