Counsel parents given an abnormal newborn bloodspot screen for Krabbe disease — OSCE

OSCE communication and shared decision-making station: explaining an abnormal newborn bloodspot screen for a lysosomal storage disorder in plain language, conveying the difference between a screen and a confirmed diagnosis, managing uncertainty around pseudodeficiency and late-onset variants, and outlining the urgent confirmatory and treatment pathway while supporting frightened parents.

osce communication and shared decision-making1 min readVerification in progress

Prompt

The parents of a two-week-old infant are referred urgently after the newborn bloodspot screen flagged low galactocerebrosidase activity, suggesting possible Krabbe disease. They have read online that their baby will develop seizures, lose all skills, and die within two years. They do not understand what a screening test is, why it might be wrong, or what happens next. Counsel them.

Candidate brief

You are the paediatric registrar seeing this family in clinic today. The task is to explain the meaning of an abnormal newborn bloodspot screen for Krabbe disease, convey honestly that this is a screen rather than a confirmed diagnosis, outline the urgent confirmatory pathway, and support the parents through their fear while keeping the door open to disease-modifying treatment if it is needed. The consultation is ten minutes. ^[1] ^[2]

References4Show

[1]Kwon JM, Matern D, Kurtzberg J, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis, 2018.PMID 29391017
[2]Matern D, Gavrilov D, Oglesbee D, et al. Newborn screening for lysosomal storage disorders. Semin Perinatol, 2015.PMID 25891428
[3]Wenger DA, Rafi MA, Luzi P. Krabbe disease: One hundred years from the bedside to the bench to the clinic. J Neurosci Res, 2016.PMID 27638583
[4]Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers, 2018.PMID 30275469

Counsel parents given an abnormal newborn bloodspot screen for Krabbe disease — OSCE

osce communication and shared decision-making1 min readVerification in progress

Candidate brief

References4Show

[1]Kwon JM, Matern D, Kurtzberg J, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis, 2018.PMID 29391017
[2]Matern D, Gavrilov D, Oglesbee D, et al. Newborn screening for lysosomal storage disorders. Semin Perinatol, 2015.PMID 25891428
[3]Wenger DA, Rafi MA, Luzi P. Krabbe disease: One hundred years from the bedside to the bench to the clinic. J Neurosci Res, 2016.PMID 27638583
[4]Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers, 2018.PMID 30275469