Down Syndrome Explanation Flashcards

1
Q

What is downs syndrome?

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What causes it?

Are there any risk factors?

A

Scientists don’t know the exact mechanism

Risk Factors
Maternal Age 35+
FHx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Epidemiology

A

1 in 650 - 1000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Presentation on examination

Head

Mouth

Hands

Feet

Heart

Other

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Investigations

A
  • 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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Management

Is there a cure?

What should be done?

A

No cure unless termination of pregnancy

Education around comorbidities of Downs especially heart problems and slow development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Prognosis

What is the prognosis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly