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Paediatrics 2 > Down's syndrome > Flashcards

Down's syndrome Flashcards

1
Q

What is Down’s syndrome due to?

A

Three copies of chromosome 21

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2
Q

What is another term for Down’s syndrome?

A

Trisomy 21

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3
Q

What varies between individuals with Down’s syndrome?

A

The extent to which the person is affected and the associated conditions they have

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4
Q

What facial features do people with Down’s syndrome have?

A
  • Upslanting palpebral fissures
  • epicanthic folds
  • Brushfield spots in iris
  • protruding tongue
  • small low-set ears
  • round/flat face
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5
Q

What do people with Down’s syndrome have in their iris?

A

Brushfield spots

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6
Q

What are additional features of Down’s syndrome?

A 
flat occiput
single palmar crease
Pronounced 'sandal gap' between big and first toe
hypotonia
congenital heart defects 
duodenal atresia
Hirschsprung's disease
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7
Q

What is atlantoaxial instability?

A

Excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bone or ligament abnormality

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8
Q

Where is the sandal gap?

A

Between big and first toe

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9
Q

What is the commonest congenital heart defect associated with Down’s syndrome?

A

Endocardial cushion defect

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10
Q

What is another term for endocardial cushion defect?

A

Atrioventricular septal canal defects

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11
Q

What are other possible cardiac defects that can occur with Down’s syndrome?

A
  • ventricular septal defect
  • secundum atrial septal defect
  • tetralogy of Fallot
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12
Q

What cancer are people with downs more at risk of?

A

Acute lymphocytic leukaemia

Alzheimer’s disease

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13
Q

What are later complications of Down’s syndrome

A 
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
hypothyroidism
atlantoaxial instability
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14
Q

What upper respiratory tract infections are people with Down’s syndrome more at risk of?

A

Glue ear

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15
Q

How is fertility affected in people with Down’s syndrome?

A
  • males are almost always infertile-impaired spermatogenesis
  • Females are usually subfertile- problems with pregnancy
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16
Q

What is now the standard test for Down’s syndrome?

A

Combined test

17
Q

When is the Combined test carried out?

A

Between 11 - 13+6 weeks gestation.

18
Q

What is the combined test?

A

Ultrasound

Maternal blood test

19
Q

What does the ultrasound measure?

A

Nuchal translucency

20
Q

What is the combined blood test used to measure?

A

Beta‑human chorionic gonadotrophin (beta-HCG)
Pregnancy‑associated plasma protein‑A (PAPPA).
Nuchal translucency

21
Q

What results from the combined test would indicate Down’s syndrome?

A
  • High B-HCG
  • Low PAPPA
  • Thickened nuchal translucency
22
Q

If a women booked in to get tested for Down’s syndrome later, what tests would you do?

A

Quadruple test

23
Q

When can the quadruple test be preformed?

A

15-20 weeks

24
Q

What does a quadruple test involve?

A

Testing maternal blood

25
Q

What would you test the maternal blood for in a quadruple test?

A
  • Beta-HCG
  • Alpha-fetoprotein (AFP)
  • Serum oestriol (female sex hormone)
  • Inhibin-A.
26
Q

What results from a quadruple test would indicate Down’s syndrome?

A
  • High Beta-HCG
  • Low Alpha-fetoprotein (AFP)
  • Low Serum oestriol (female sex hormone)
  • High inhibin-A
27
Q

What do the screening tests provide?

A

A risk score for the fetus having Down’s syndrome.

28
Q

What is classed as a high chance?

A

When the risk of Down’s is greater than 1 in 150

29
Q

What is classed as a low chance?

A

When the risk of Down’s is less than 1 in 150

30
Q

What is usually offered the fetus has a high chance of Down’s syndrome?

A

Non-invasive prenatal screening test (NIPT)

31
Q

What are some routine follow up investigations that are important for children with Down’s syndrome?

A
  • Regular thyroid checks (2 yearly)
  • Echocardiogram to diagnose cardiac defects
  • Regular audiometry for hearing impairment
  • Regular eye checks
32
Q

What is the average life expectancy for someone with Down’s syndrome?

A

60 years old

33
Q

What would you look for in maternal blood for NIPT?

A

Small DNA fragments that circulate in the blood of a pregnant woman (cell free fetal DNA, cffDNA)

34
Q

What is the name of the name of teh small DNA fragments that circulate in the blood of a pregnant woman?

A

Cell free fetal DNA, cffDNA

Paediatrics 2 (47 decks)

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