Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel new parents given a postnatal diagnosis of Noonan syndrome — OSCE
OSCE communication and shared-planning station: breaking the news of a postnatal Noonan syndrome diagnosis, explaining the RAS/MAPK pathway and the meaning of the multigene panel result, outlining the genotype-aware surveillance schedule in plain language, and offering strengths-based framing and a support pathway while addressing fear and avoiding deficit language.
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Study tools
Target exams
MRCPCH ClinicalRACP DCERCPSC Pediatrics
Prompt
The parents of a two-day-old infant just told on the postnatal ward that their baby has Noonan syndrome are frightened and tearful. They have read online that their child will have heart disease and learning difficulties and may never live independently. They do not understand what a RASopathy is or what the genetic test means, and they are anxious about what will happen next. Counsel them.
Candidate brief
You have eight minutes to counsel the parents of a two-day-old infant given a postnatal diagnosis of Noonan syndrome. The diagnosis is confirmed on clinical grounds and a multigene RASopathy panel has identified a PTPN11 variant. Use a structured, honest, empathic, strengths-based approach. [1] [2]
References3ShowHide
- [1]Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet, 2013.PMID 23312968
- [2]Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics, 2010.PMID 20876176
- [3]Romano AA. Growth and growth hormone treatment in Noonan syndrome. Pediatr Endocrinol Rev, 2019.PMID 31115197