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3a Paediatrics > Paeds inherited conditions and neonates (ILA 6) > Flashcards

Paeds inherited conditions and neonates (ILA 6) Flashcards

1
Q

Outline the steps in neonatal life support

A
  1. dry the baby
  2. assess tone, breathing and circulation
  3. if not breathing -> open airway, 5 inhalation breaths, consider oxygen
  4. re-assess
  5. if chest not moving -> recheck head position, 2 person airway control,repeat breaths, look for response
  6. when chest is moving, ventilate for 30 secs and start chest compressions
  7. re-assess every 30 sec
  8. update patients
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2
Q

What is given to the newborn if heart rate low (<60bpm)?

A

adrenaline

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3
Q

What is used to treat lactic acidosis in the newborn?

A

sodium bicarbonate

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4
Q

What is used to treat hypoglycaemia in the newborn?

A

dextrose

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5
Q

Define a preterm baby

A

<34 weeks of gestation

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6
Q

What is the viability threshold of a pregnancy and the age when to start treating in the uK?

A

24 weeks gestation

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7
Q

List the steps in stabilising the preterm/ sick infant

A
  1. assess airway, circulation, tone
  2. manage as required
  3. monitor - O2, RR, HR, BP, temp, glucose, blood gases, weight
  4. temp control
  5. venous and arterial lines established
  6. Chest x-ray
  7. investigations
  8. minimal handling and parents!!!
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8
Q

Outline the steps in maintaining temperature control in the preterm infant

A

place in plastic bag
stabilisation under a radiant warmer
add a heated mattress or humidified incubator

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9
Q

Which venous/arterial lines should be established in the sick child?

A
  1. peripheral intravenous line
  2. umbilical venous catheter
  3. arterial line
  4. PIC line
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10
Q

Which investigations would you do for a sick newborn?

A 
FBC
urea and creatinine 
electrolytes 
blood cultures
CRP
coagulation screen
blood glucose
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11
Q

List the problems affecting a premature baby…

A 
lung problems due to lack of surfactant 
heart defect -PDA
nutrition and feeding problems 
nectrotising enterocolitis
jaundice
hypoglycaemia
temperature control - hyperthermia 
haemorrhage
retinopathy 
anaemia 
sepsis
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12
Q

How is respiratory distress syndrome caused?

A

it is due to a lack of surfactant

lack of surfactant increases surface tension

leads to widespread alveolar damage and insufficient gaseous exchange

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13
Q

Where is surfactant excreted from?

A

excreted from the type 2 pneumocytes of the alveolar epithelium from 24 weeks gestation

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14
Q

When does respiratory distress syndrome present?

A

within 4 hours of birth

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15
Q

Outline the symptoms and signs of respiratory distress syndrome

A

within 4 hours of birth, baby shows signs of respiratory distress…

tachypnoea
nasal flaring
expiratory grunting 
chest recession 
laboured breathing 
cyanosis
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16
Q

What are the signs of respiratory distress syndrome on a chest x-ray?

A

ground glass appearance

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17
Q

How is respiratory distress syndrome managed?

A
  1. ambient oxygen therapy - nasal canulae, CPAP
  2. surfactant therapy
  3. glucocorticoids - given to mother to stimulate surfactant production if preterm baby expected
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18
Q

What is the risk with excess oxygen therapy?

A

damages the retina

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19
Q

What is bronchopulmonary dysplasia?

A

also termed “chronic lung disease of prematurity”

= officially needing oxygen at 28 days or 36 weeks post menstrual age

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20
Q

How does bronchopulmonary dysplasia occur?

A

it is due to abnormal development of the lung causing…

  1. reduced lung volume
  2. reduced alveolar surface
  3. cysts
  4. diffusion defect
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21
Q

How is chronic lung disease of prematurity managed?

A
  • antibiotics for infections
  • Pavlivuzumab - vaccination against RSV
  • NICU
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22
Q

What are the possible respiratory complications a premature baby can develop?

A
  1. respiratory distress syndorme
  2. bronchopulmonary dysplasia
  3. pneumothorax
  4. apnoea
  5. bradycardia, desaturations
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23
Q

Outline the circulatory problems preterm infants encounter?

A

Hypotension

Patent ductus arteriosus

Anaemia

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24
Q

How should nutrition of a preterm baby be managed?

A
  1. nasogastric tube feeding until 36 weeks
  2. parenteral nutrition required via PIC line or umbilical venous catheter
  3. breast milk supplemented with calories, vitamins, calcium, phosphates
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25
Q

What are the benefits to the mother when breastfeeding?

A
  • reduces risk of breast, uterine, ovarian and endometrial cancer
  • helps with bonding of the baby
  • helps with weight loss
  • improved health benefits
  • free!!
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26
Q

What are the benefits of breastfeeding for the baby?

A
  • passive immunity
  • reduces risk of necrotising enterocolitis
  • reduces risk of obesity
  • less allergic diseases
  • reduces risk of SIDS
  • reduced GORD
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27
Q

What is the problem with preterm babies and breastfeeding?

A

premature babies struggle to suck as the sucking reflex starts at 36 weeks

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28
Q

Outline the neurological complications that a preterm baby is at risk of.

A
  • haemorrhage
  • retinopathy of prematurity
  • hearing problems
  • ventricular dilatation
  • periventricular leukomalacia
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29
Q

what are the complications of retinopathy of prematurity?

A

blindness
retinal detachment
fibrosis

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30
Q

How is retinopathy of prematurity managed?

A

laser therapy

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31
Q

Why are preterm babies at increased risk of hypothermia?

A
  1. large surface area to volume ratio
  2. skin is thin and heat permeable
  3. little subcutaneous fat for insulation
  4. looked after naked so can’t conserve heat
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32
Q

How does hypothermia manifest?

A

hypothermia causes increased energy consumption which causes…

  1. hypoxia
  2. hypothermia
  3. failure to gain weight
  4. mortality!!!!
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33
Q

Outline the methods used to prevent hypothermia in a baby

A
  1. convection- raise temp of ambient air in incubator, clothe, avoid draughts
  2. conduction- nurse on heated mattress
  3. evaporation- dry the baby, wrap, humidify incubator
  4. radiation- cover baby, double walls for incubators
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34
Q

What is necrotising enterocolitis?

A

bacterial infection in the ischaemic bowel wall

usually the terminal ileum and proximal colon affected

inflammation can cause severe gut necrosis

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35
Q

Who is at risk of necrotising enterocolitis?

A

preterm babies

fed cows milk formulae **

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36
Q

How does a baby with necrotising enterocolitis present?

A
  • present in 2nd week of life
  • billious vomiting
  • can’t keep down feeds
  • distended abdomen
  • stool contains fresh blood
  • pain
  • shock
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37
Q

What are the possible complications of necrotising enterocolitis?

A

bowel perforation
malabsorption
peritonitis
death!! - leading cause in preterm infants

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38
Q

List the changes seen on an x-ray of a child with necrotising enterocolitis

A
  • distended loops of the bowel
  • gas in the portal tract
  • Football sign = air outlining falciform ligament
  • Riglers sign = air inside and outside the bowel wall
  • thickening of bowel wall with intramural gas “pneumatosis intestinalis”
  • oedema
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39
Q

How is nectrotising enterocolitis managed?

A
  1. ABC
  2. artificial ventilation
  3. stop oral feeds
  4. start nutrition via TPN or NG tube
  5. broad spectrum antibiotics
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40
Q

How is jaundice caused?

A

increased breakdown of the red blood cells causes an increase in haemoglobin concentration and increase in serum bilirubin (leads to yellow skin and sclera)

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41
Q

List the causes of jaundice if presents at <24 hours of birth

A

SERIOUS !!

  1. congenital infections e.g. rubella, CMV, toxoplasmosis, herpes, hepatitis
  2. ABO incompatibility
  3. rhesus haemolytic disease
  4. haemolytic disorders e.g. G6PD deficient, pyruvate kinase deficiency, spherocytosis
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42
Q

List the causes of jaundice if presents between 24 hours - 2 weeks of birth

A

COMMON, NOT AS CONCERNING
physiological jaundice - no cause, haemolysis occurs because switching from HbF
breast milk jaundice - can be due to dehydration
dehydration
infection e.g. UTI
polycythaemia
crigler najjar syndrome

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43
Q

List the causes of jaundice presenting >2 weeks of age

A

SERIOUS !!
UNCONJUGATED- physiological, infection, congenital hypothyroidism*, upper GI obstruction e.g. pyloric stenosis

CONJUGATED- biliary atresia**, neonatal hepatitis (prolonged jaundice)

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44
Q

When does a baby become clinically jaundice?

A

bilirubin >80 umol/l

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45
Q

How is jaundice diagnosed?

A

coombs test - direct anti globulin test

TORCH screening

blood tests - FBC, UandE, TFT, LFTs

transcutaneous bilirubin meter

46
Q

How is jaundice managed?

A
  1. correct dehydration and increase milk intake
  2. PHOTOTHERAPY - light from blue-green band at 450nm converts unconjugated bilirubin to water soluble pigment which can be excreted in the urine
  3. exchange transfusion
47
Q

How does phototherapy help with jaundice?

A

converts unconjugated bilirubin to water soluble pigment excreted in urine

48
Q

What can happen if the level of unconjugated bilirubin exceeds albumin binding capacity of bilirubin in blood?

A

KERNICTERUS =deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei

49
Q

How do you determine the need for phototherapy?

A

plot bilirubin levels on chart to determine need for phototherapy

50
Q

How does kernicterus present?

A
  1. encephalopathy
  2. seizures
  3. coma
    + poor feeding, lethargy, irritable, increased muscle tone
51
Q

When does early onset sepsis occur?

A

occurs <48 hours after birth - bacteria ascended from the birth canal and invaded the amniotic fluid

52
Q

What increases the risk of early onset infection?

A

premature rupture of the amniotic membranes

chorioamnionitis (when mother has fever during labour)

53
Q

How might a preterm baby with sepsis present?

A 
respiratory distress
fever
poor feeding
irritable
lethargy 
apnoea
shock
seizures
54
Q

what is involved in a septic screen?

A

FBC
blood cultures
CRP

55
Q

When does late onset infection occur in preterm babies?

A

> 48 hours after birth

source of infection if from the environment e.g. hospital acquired, via central venous catheters/ tracheal tubes, invasive procedures

56
Q

What is the most common causative pathogen of late onset infection?

A

staphylococcus epidermidis

57
Q

What are the risk factors for hypoglycaemia in a baby?

A

preterm

maternal diabetes

IUGR

hypothermic

polycythaemic

58
Q

How might a baby with hypoglycaemia present?

A 
irritable
lethargy
apnoea
drowsiness
seizures
59
Q

How is hypoglycaemia prevented?

A

early and frequent milk feeding

60
Q

When is blood glucose considered low in a newborn?

A

<2.6 mmol/l

61
Q

what is developmental dysplasia of the hip?

A

shallow acetabulum doesn’t cover femoral head and dislocatable

62
Q

List the risk factors of developmental dysplasia of the hip

A 
females*
breech presentation *
family history of DDH *
first born child 
prematurity
oligohydramnios
macrosomia
63
Q

How is developmental dysplasia of the hip detected?

A

during newborn screening by..
Barlows test = dislocation
Ortolini test = relocation

+ ultrasound if suspect problem

64
Q

How might a child present if developmental dysplasia of the hip is NOT detected?

A

unilateral limp
leg dragging
restricted movement

65
Q

How is developmental dysplasia of the hip treated?

A

Pavlik harness +/- surgical reduction at under 4-5 months old

66
Q

List the post natal screening tests offered to children

A
  1. newborn hearing- automated otoacoustic emissions test (at birth)
  2. newborn physical exam (72hrs-6 weeks old)
  3. newborn blood spot (Guthries) heel prick test (5-8 days old)
67
Q

What is involved in the newborn physical examination?

A

occurs within 72 hours of birth- 6 weeks
full body examination focussing on…

  1. HIPS - Barlows and Ortolanis test
  2. GENITALIA- testes, ambiguous genitalia, imperforate anus, undescended tesyis
  3. HEART- murmur, femoral pulse, cyanosis
  4. EYES- red reflex (check for congenital cataracts), movement and coloboma
68
Q

Which conditions are screened during the newborn blood spot (guthries test)?

A
  1. cystic fibrosis
  2. sickle cell anaemia
  3. congenital hypothyroidism
  4. phenylketonuria
  5. medium chain acyl-coA dehydrogenase deficiency
  6. maple syrup urine disease
  7. isovaleric acidaemia
  8. glutamic acuduria type 1
  9. homocystinuria
69
Q

What are the causes of Downs syndrome (trisomy 21)?

A
  1. MEIOTIC NON DYSFUNCTION (94%)
    result from error at meiosis - the pair of chromosome 21s fail to separate so one gamete has 2 and one has none - fertilisation of gamete with 2 chromosome 21 gives rise to zygote with trisomy 21
  2. ROBERTSONIAN TRANSLOCATIOM
  3. MOSAICISM
70
Q

Describe the facial features of a child with Downs syndrome

A 
flat occiput
round face 
flat nasal bridge 
epicanthic folds
brush field spots in iris 
small mouth with protruding tongue 
small ears
71
Q

Describe the other manifestations of Downs syndrome

A 
single palmar crease
wide "sandal" gap between big and 2nd toe 
hypotonia
hirschspungs disease
duodenal atresia 
atrioventricular septal defect
72
Q

Outline the problems patients with Downs syndrome encounter later in life

A 
delayed motor milestones
learning difficulties 
short stature 
hypothyroidism 
impaired vision and hearing 
epilepsy 
alzheimers disease
73
Q

How is downs syndrome detected?

A

screening test - measure nuchal thickening on ultrasound to identify increased risk of downs syndrome in foetus

triple at 10-13 weeks scan: hCG, USS and PAPP-A
quad at 15-18 weeks scan: hCG, oestriol, inhibin A, alpha fetoprotein

74
Q

On the triple and quad testing, what results indicate Downs syndrome?

A

high hCG
low alpha fetoprotein, oestriol, PAPP-A
thickened nuchal translucency

75
Q

Describe the clinical features of Edwards syndrome (T18)

A 
low birth weight 
prominent occiput 
low set ears 
rocker bottom feet 
overlapping fingers
76
Q

What is the prognosis for Edwards syndrome?

A

poor prognosis

3% make it to live birth

median survival = 15 days

77
Q

Describe the clinical features of Patau syndrome?

A 
cleft lip and cleft palate 
polydactyly 
global developmental delay 
microcephaly 
scalp lesions
78
Q

What is the prognosis for Patua syndrome?

A

many die in utero

80% of live births die within 1 year

10 year survival is <20%

79
Q

What is the cause of Turners syndrome

A

45 chromosomes with only one X chromosome in females

80
Q

Describe the clinical features of turners syndrome

A 
short stature
webbed neck
widely spaced nipples 
amenorrhoea 
spoon shaped nails 
coarction of the aorta/ bicuspid aortic valve 
hypothyroidism
81
Q

How is turners syndrome managed and what is the prognosis?

A

good prognosis if live birth

  1. growth hormone therapy
  2. oestrogen replacement
82
Q

List examples of autosomal dominant inherited disorders

A 
Neurofibromatosis
Ehlers Danlos syndrome
familial hypercholesterolaemia 
hunting tons disease 
marfan syndrome
83
Q

Define autosomal recessive

A

an affected individual is homozygous for the abnormal gene so inherits an abnormal allele from each parent

84
Q

Name examples of autosomal recessive disease

A 
congenital adrenal hyperplasia
cystic fibrosis 
friedrich ataxia 
glycogen storage disease 
phenylketonuria 
sickle cell disease
Tay-Sachs disease
thalassaemia
85
Q

Describe X linked inheritance

A

caused by alterations in genes found on the X chromosome

daughters of affected males will be carriers
sons of affected males will NOT be carriers (as passes Y chromosome to boy)

males are affected

86
Q

Name examples of X linked inheritance disorders

A 
colour blindness
Duchenne and Becker muscular dystrophy 
Fragile X syndrome 
glucose-6-phosphate dehydrogenase
haemophilia A and B 
Hunter syndrome
87
Q

Describe the clinical features of fragile X syndrome

A 
learning difficulties
macrocephaly 
long face with large ears 
hypotonia 
mitral valve prolapse 
macro-orchidism
88
Q

What is imprinting?

A

expression of some genes influenced by the sex of the parent who transmitted it

89
Q

Describe the inheritance of prader will syndrome

A

example of an imprinting disorder
occurs if gene deleted from father
prader willi gene region found on chromosome 15

90
Q

Describe the symptoms and signs of prader willi syndrome

A 
hypotonia
developmental delay 
obesity
short stature
dysmorphic features
hypogonadism
behavioural problems
91
Q

What happens if gene deleted from mother of prader willi gene ?

A

angel man syndrome

92
Q

What are the differential diagnosis for an unwell neonate?

A 
THEM IS FITS
T- trauma, tremor, thermal
H- heart disease, hypovolaemia, hypoxia
E- endocrine
M- metabolic disturbance

I- inborn errors of metabolism
S- seizures

F- formula dilution -> hypo/hyper natraemia
I- intestinal catastrophe
T- toxins
S- sepsis

93
Q

What is biliary atresia?

A

progressive disease where there is destruction or absence of the extra hepatic biliary tree and intrahepatic biliary ducts leading to chronic liver failure and death

94
Q

How do neonates with biliary atresia present?

A
  1. mildy jaundiced after 2 weeks
  2. failure to thrive
  3. conjugated bilirubin -> dark urine, pale stools
  4. hepatomegaly + splenomegaly
95
Q

How is diagnosis of biliary atresia diagnosed?

A

laparotomy by operative cholangiography - fail to outline the normal biliary tree

96
Q

How is biliary atresia managed?

A

surgery performed before age of 60 days as 80% achieve biliary drainage…

  1. surgical bypass of the fibrotic ducts
  2. Kasai procedure
97
Q

Define sudden infant death syndrome

A

sudden and unexpected death of an infant or young child for which no adequate cause is donut through post mortem examination

98
Q

What is the most common cause of death in the first year of life?

A

sudden infant death syndrome (most commonly at 3 months)

99
Q

List the major risk factors in SIDS

A 
putting baby to sleep prone
smoking 
prematurity
bed sharing
hyperthermia e.g. over-wrapping
head covering
100
Q

List other risk factors of SIDS

A 
male sex
multiple births
lower social class
maternal drug use
incidence increases in winter
101
Q

List some protective factors of SIDS

A

breast feeding
room sharing
use of dummies

102
Q

What does the APGAR scoring system assess?

A

assess the health of a newborn baby by:

A- ACTIVITY
0= absent, 1= flexed arms and legs, 2= active

P- PULSE
0= absent, 1= below 100bpm, 2= over 100bpm

G- GRIMACE (REFLEX IRRITABILITY)
0= floppy, 1 = minimal response to stimulation, 2= response to stimulation

A- APPERANCE (SKIN COLOUR)
0= blue/ pale, 1= pink body/ blue extremities, 2= pink

R- RESPIRATION
0= absent, 1= slow and irregular, 2= vigorous cry

103
Q

what is persistent pulmonary hypertension?

A

high pulmonary vascular resistance due to R to L shunting within lungs

104
Q

How does persistent pulmonary hypertension present?

A

cyanosis at birth

105
Q

Which investigations can be done to diagnose pulmonary hypertension?

A

Chest X ray -> pulmonary oligaemia

ECHO -> exclude CHD

106
Q

How is pulmonary hypertension treated?

A
  1. mechanical ventilation
  2. circulatory support
  3. inhaled nitric oxide (vasodilator) or sildenafil
    if SEVERE -> extracorporeal membrane oxygenation
107
Q

What is meconium aspiration?

A

in 8-20% of births, meconium is passed before birth and can be inhaled and cause mechanical obstruction and collapse of the lung

108
Q

How does meconium aspiration present?

A

persistent hypertension of newborn

109
Q

How is meconium aspiration managed?

A

mechanical ventilation

110
Q

what are the symptoms of meconium ileus?

A

failure to pass meconium within the first 48 hours
vomiting
abdominal distension

3a Paediatrics (9 decks)

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