Down Syndrome Explanation

Question 1

What is downs syndrome?

Answer 1

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)

Question 2

What causes it?

Are there any risk factors?

Answer 2

Scientists don’t know the exact mechanism

Risk Factors
Maternal Age 35+
FHx

Question 3

Epidemiology

Answer 3

1 in 650 - 1000

Question 4

Presentation on examination

Head

Mouth

Hands

Feet

Heart

Other

Answer 4

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

Question 5

Investigations

Answer 5

• 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

Question 6

Management

Is there a cure?

What should be done?

Answer 6

No cure unless termination of pregnancy

Education around comorbidities of Downs especially heart problems and slow development

Question 7

Prognosis

What is the prognosis

Answer 7

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