Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel new parents given a postnatal diagnosis of Down syndrome — OSCE
OSCE communication and shared-planning station: breaking the news of a postnatal Down syndrome diagnosis, explaining the genetic mechanism and the meaning of the karyotype, outlining the age-stratified 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 Down syndrome are frightened and tearful. They have read online that their child will never read, live independently, or have a normal life. They do not understand what a karyotype is or why it matters, 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 Down syndrome. The diagnosis is confirmed on clinical grounds and a karyotype has been requested. Use a structured, honest, empathic, strengths-based approach. [1] [2]
References3ShowHide
- [1]Bull MJ. Down Syndrome N Engl J Med, 2020.PMID 32521135
- [2]Bull MJ Health supervision for children with Down syndrome Pediatrics, 2011.PMID 21788214
- [3]Van Cleve SN, Cannon S, Cohen WI. Part II: Clinical Practice Guidelines for adolescents and young adults with Down Syndrome: 12 to 21 Years J Pediatr Health Care, 2006.PMID 16675381