Downs syndromes

Question 1

What is Downs syndrome

Answer 1

Trisomy 21 causing dysmorpjhic features

Question 2

What are dysmorphic features OF DOWNS?

Answer 2

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

Question 3

What are epicanthic folds?

Answer 3

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

Question 4

What are palpebral fissures

Answer 4

are the gaps between the lower and upper eyelid.

Question 5

Complications of downs syndrome

Answer 5

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

Question 6

Visual problems in downs?

Answer 6

Myopia, strabismus and cataracts

Question 7

When is Downs syndrome tested for?

Answer 7

11-14 weeks gestation

Question 8

What does US measure for Downs?

Answer 8

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

Question 9

What level of HCG ssuggests higher risk of Donws?

Answer 9

Higher

Question 10

What level of PAPPA indicates greater risk of Downs syndrome?

Answer 10

• Pregnancy associated plasma protein A

Question 11

When is the triple test performed for Downs syndrome risk?

Answer 11

14-20 weeks

Question 12

What is tested in the combined test for downs risk?

Answer 12

US
Maternal blood tests -
beta-HCG
PAPPA

Question 13

What is tested in the triple test for Downs syndrome?

Answer 13

Beta HCG
Alpha-fetoprotein
Serum oestriol

Question 13

What is tested in the triple test for Downs syndrome?

Answer 13

Beta HCG
Alpha-fetoprotein
Serum oestriol

Question 14

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

Answer 14

Inhibin-A

Question 15

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

Answer 15

AFP
Serum oestriol
PAPPA

Question 16

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

Answer 16

Beta-HCG
Inhibin A

Question 17

When is a woman offered amniocentesis or chorionic villus sampling ?

Answer 17

> 1 in 150 chance of Downs syndrome

Question 18

How does Chorionic villous sampling work?

Answer 18

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

Question 19

How does amniocentesis work?

Answer 19

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

Question 20

Why is amniocentesis done later in pregnancy?

Answer 20

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

Question 21

How does non invasive prenatal testing work?

Answer 21

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

Question 22

Who is NIPT available to

Answer 22

women with a chance of downs higher than 1 in 150

Question 23

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

Answer 23

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

Question 24

What reviewed annnually in a downs child?

Answer 24

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

Question 25

Common health problems in downs children

Answer 25

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

Question 26

What can cause constipation in downs syndrome?

Answer 26

Idiopathic Hirchprungs Hypothyroidism

Question 27

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

Answer 27

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

Question 28

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

Answer 28

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

Question 29

Audiological tests

Answer 29

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

Question 30

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

Answer 30

Conductive

Question 31

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

Answer 31

Otoacoustic emission testing

Question 32

Routine investigations for a baby born with Downs syndrome?

Answer 32

Genetic confirmation testing FBC ECG blood film

Question 33

Routine schedule health screening checks in shool age children with downs

Answer 33

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