Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel parents after an abnormal newborn bloodspot screen for X-linked adrenoleukodystrophy — OSCE
OSCE communication and shared decision-making station: explaining an abnormal newborn bloodspot screen for X-linked adrenoleukodystrophy in plain language, conveying the difference between a screen and a confirmed diagnosis, managing uncertainty around variants of uncertain significance and late-onset phenotypes, and outlining the urgent confirmatory and surveillance pathway while supporting frightened parents.
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Target exams
Communication task
The candidate is asked to counsel the parents of a screen-positive infant. The goal is to convey accurate information in plain language, to manage the parents' fear and their internet-driven worst-case assumptions, to explain what a screening test is and why it must be confirmed, and to lay out a clear, time-sensitive pathway — all while building trust and shared decision-making. [1] [2]
References3ShowHide
- [1]Lee S, Clinard K, Young SP, et al. Evaluation of X-linked adrenoleukodystrophy newborn screening in North Carolina. JAMA Netw Open, 2020.PMID 32003821
- [2]Raymond GV, Moser AB, Fatemi A. X-linked adrenoleukodystrophy. GeneReviews, 1993.PMID 20301491
- [3]Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol, 2007.PMID 17342190