MBBS OSCE · Paediatrics
OSCE — Down Syndrome
Eight-minute OSCE station on Down Syndrome: focused history, examination priorities, investigations, emergency and definitive management.
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Brief (to candidate)
You will assess a patient with a presentation consistent with Down Syndrome.
You have 8 minutes to take a focused history, outline examination, investigations, and management including red flags.
Clinical context
Down syndrome is the commonest autosomal chromosomal abnormality in liveborn infants, caused by a full or partial extra copy of chromosome 21 (trisomy 21). It produces a characteristic facial phenotype, intellectual disability, and a cluster of associated conditions — congenital heart disease (AVSD), duodenal atresia, hypothyroidism, leukaemia, and atlantoaxial instability. Three cytogenetic forms: non-disjunction (95%), Robertsonian translocation (4%), and mosaicism (1%). Maternal age is the dominant risk factor. Diagnose with karyotype; screen antenatally with combined first-trimester screen and cell-free DNA (NIPT). Management is lifelong, multidisciplinary, anticipatory (AAP 2022 schedul
Candidate tasks
- Clarify onset, severity, associated features, and red-flag symptoms.
- State focused examination priorities.
- List first-line investigations and any named score/criteria.
- Give immediate resuscitation steps.
- Outline definitive management with doses/routes where standard.
- Name complications and disposition (ward / HDU / theatre / discharge safety-net).
- Mention one special-population modifier (pregnancy, child, elderly, CKD).
Examiner checklist
| Domain | Pass behaviours |
|---|---|
| Definition | Correct working diagnosis language |
| Assessment | Focused, prioritised, red flags sought |
| Investigations | Appropriate first-line + interpretation |
| Emergency care | ABC / time-critical actions first |
| Definitive care | Specific drugs/procedures, not generic phrases |
| Safety | Neonate with bilious vomiting and a 'double bubble' on AXR — duodenal atresia; p |
| Safety | Cyanosis, differential saturations, or murmur in a Down syndrome neonate — conge |
| Safety | New cytopenia, hepatosplenomegaly, or petechiae in an infant with Down syndrome |
| Communication | Clear plan and safety-netting |
Model outline
Lead with the working diagnosis and life threats. Resuscitate before definitive tests when unstable. Use guideline-standard therapy with named agents and doses. Document escalation criteria and follow-up. A safe candidate is specific, structured, and never delays critical care for non-urgent imaging.