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Childs Health > Downs syndromes > Flashcards

Downs syndromes Flashcards

1
Q

What is Downs syndrome

A

Trisomy 21 causing dysmorpjhic features

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2
Q

What are dysmorphic features OF DOWNS?

A

Hypotonia
Brachycephaly
Short neck
Short stature
Flatterned nose and faces
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease

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3
Q

What are epicanthic folds?

A

are folds of skin covering the medial portion of the eye and eyelid.

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4
Q

What are palpebral fissures

A

are the gaps between the lower and upper eyelid.

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5
Q

Complications of downs syndrome

A

Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities - glue ear and conductive hearing loss
Visual problems
Hypothyroidism
Cardiac defects
Atlantoaxual instability
Leaukaemia
Dementia

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6
Q

Visual problems in downs?

A

Myopia, strabismus and cataracts

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7
Q

When is Downs syndrome tested for?

A

11-14 weeks gestation

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8
Q

What does US measure for Downs?

A

Nuchal translucency - thickness of back of neck of foetus
Maternal blood tests - beta HCG
PAPPA

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9
Q

What level of HCG ssuggests higher risk of Donws?

A

Higher

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10
Q

What level of PAPPA indicates greater risk of Downs syndrome?

A
  • Pregnancy associated plasma protein A
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11
Q

When is the triple test performed for Downs syndrome risk?

A

14-20 weeks

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12
Q

What is tested in the combined test for downs risk?

A

US
Maternal blood tests -
beta-HCG
PAPPA

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13
Q

What is tested in the triple test for Downs syndrome?

A

Beta HCG
Alpha-fetoprotein
Serum oestriol

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13
Q

What is tested in the triple test for Downs syndrome?

A

Beta HCG
Alpha-fetoprotein
Serum oestriol

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14
Q

What extra test is included in the quadruple test for downs sundrome risk?

A

Inhibin-A

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15
Q

What blood tests mean likelihood of downs is higher when results are lower?

A

AFP
Serum oestriol
PAPPA

16
Q

What blood tests mean likelihood of downs is higher when results are higher?

A

Beta-HCG
Inhibin A

17
Q

When is a woman offered amniocentesis or chorionic villus sampling ?

A

> 1 in 150 chance of Downs syndrome

18
Q

How does Chorionic villous sampling work?

A

Involves an US guided biopsy of placental tissue - before 15 weeks

19
Q

How does amniocentesis work?

A

US guided aspiration of some amniotic fluid using a needle and syringe

20
Q

Why is amniocentesis done later in pregnancy?

A

When enough amniotic fluid to make it safer to take a sample

21
Q

How does non invasive prenatal testing work?

A

Bllod test from mother with fragments of DNA representing foetal DNA analysed for DOWNS

22
Q

Who is NIPT available to

A

women with a chance of downs higher than 1 in 150

23
Q

What routine follow ups are important for a child with downs syndrome?

A

Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairments
Regular eye checks

24
Q

What reviewed annnually in a downs child?

A

Partucular attention to:
Recent illness, eating, sleeping, toiletting, immunisations, meds
Development -
Social histoty - impact on family, education
ICE
Growth charts
Hearing
Depression/dementia screen
Diabetes

25
Q

Common health problems in downs children

A

Heart problems
Vision and hearing problems
Thyroid problems - underactive
Constipation
Breathing
Teeth - different time than other children
Blood disorders
Neck problems

26
Q

What can cause constipation in downs syndrome?

A

Idiopathic
Hirchprungs
Hypothyroidism

27
Q

Why are children with downs syndrome more vulnerable to resp infections?

A

Reduced imunity
Feeding difficulties
Gastro-oesophageal reflux
Heart or AW problems
Sleep apnoea

28
Q

How many children with downs syndrome are born with some sort of heart problem?

A

Half
1 in 5 have serious problems in first 2 months - early treatment needed
6 week checks

29
Q

Audiological tests

A

Visual reinforcement audiometry - hearing thresholds established visual rewards for head turn at different frequencies
Oto-acoustic emission testing - click. Vibrations from outer hair cells of cochlear deteceted
Pure tone audiometry
Auditory brain stem response - EEG

30
Q

What type of hearing loss do pierre robin and downs syndrome cause?

A

Conductive

31
Q

Which of test is used for initial neonatal hearing screening as part of the national hearing screening programme?

A

Otoacoustic emission testing

32
Q

Routine investigations for a baby born with Downs syndrome?

A

Genetic confirmation testing
FBC
ECG
blood film

33
Q

Routine schedule health screening checks in shool age children with downs

A

2 yearly TFT
2 yearly vision testing
2 yearly audiology review
1 yearly height and weight

Childs Health (82 decks)

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