Down Syndrome Explanation Flashcards
What is downs syndrome?
A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21)
What causes it?
Are there any risk factors?
Scientists don’t know the exact mechanism
Risk Factors
Maternal Age 35+
FHx
Epidemiology
1 in 650 - 1000
Presentation on examination
Head
Mouth
Hands
Feet
Heart
Other
Floppy - Hypotonia
Head:
- Brachycephaly (flat head)
- Epicanthic folds.
- Ears set low or folded
- Flat nasal bridge.
Mouth:
- Protruding tongue
- small narrow palate
- High arched palate.
Hands:
-Single palmar crease.
Feet:
Gap between hallux and second toes.
AVSD
Duodenal atresia
Investigations
- FBC
- Thyroid
- Echo
- SALT
- Ophthalmology
- Annual Check
Echo for Heart Problems
Swallowing Assessment Feeding Problems
Red Reflex for Vision Problems
Blood test for Thyroid Problems
FBC for Blood Problems
leukaemia
Annual Health Check
Management
Is there a cure?
What should be done?
No cure unless termination of pregnancy
Education around comorbidities of Downs especially heart problems and slow development
Prognosis
What is the prognosis
a median age at death in their mid-50s
leading causes of death in adults with Down’s syndrome are respiratory infections and cardiac causes