Paeds inherited conditions and neonates (ILA 6) Flashcards
Outline the steps in neonatal life support
- dry the baby
- assess tone, breathing and circulation
- if not breathing -> open airway, 5 inhalation breaths, consider oxygen
- re-assess
- if chest not moving -> recheck head position, 2 person airway control,repeat breaths, look for response
- when chest is moving, ventilate for 30 secs and start chest compressions
- re-assess every 30 sec
- update patients
What is given to the newborn if heart rate low (<60bpm)?
adrenaline
What is used to treat lactic acidosis in the newborn?
sodium bicarbonate
What is used to treat hypoglycaemia in the newborn?
dextrose
Define a preterm baby
<34 weeks of gestation
What is the viability threshold of a pregnancy and the age when to start treating in the uK?
24 weeks gestation
List the steps in stabilising the preterm/ sick infant
- assess airway, circulation, tone
- manage as required
- monitor - O2, RR, HR, BP, temp, glucose, blood gases, weight
- temp control
- venous and arterial lines established
- Chest x-ray
- investigations
- minimal handling and parents!!!
Outline the steps in maintaining temperature control in the preterm infant
place in plastic bag
stabilisation under a radiant warmer
add a heated mattress or humidified incubator
Which venous/arterial lines should be established in the sick child?
- peripheral intravenous line
- umbilical venous catheter
- arterial line
- PIC line
Which investigations would you do for a sick newborn?
FBC urea and creatinine electrolytes blood cultures CRP coagulation screen blood glucose
List the problems affecting a premature baby…
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
How is respiratory distress syndrome caused?
it is due to a lack of surfactant
lack of surfactant increases surface tension
leads to widespread alveolar damage and insufficient gaseous exchange
Where is surfactant excreted from?
excreted from the type 2 pneumocytes of the alveolar epithelium from 24 weeks gestation
When does respiratory distress syndrome present?
within 4 hours of birth
Outline the symptoms and signs of respiratory distress syndrome
within 4 hours of birth, baby shows signs of respiratory distress…
tachypnoea nasal flaring expiratory grunting chest recession laboured breathing cyanosis
What are the signs of respiratory distress syndrome on a chest x-ray?
ground glass appearance
How is respiratory distress syndrome managed?
- ambient oxygen therapy - nasal canulae, CPAP
- surfactant therapy
- glucocorticoids - given to mother to stimulate surfactant production if preterm baby expected
What is the risk with excess oxygen therapy?
damages the retina
What is bronchopulmonary dysplasia?
also termed “chronic lung disease of prematurity”
= officially needing oxygen at 28 days or 36 weeks post menstrual age
How does bronchopulmonary dysplasia occur?
it is due to abnormal development of the lung causing…
- reduced lung volume
- reduced alveolar surface
- cysts
- diffusion defect
How is chronic lung disease of prematurity managed?
- antibiotics for infections
- Pavlivuzumab - vaccination against RSV
- NICU
What are the possible respiratory complications a premature baby can develop?
- respiratory distress syndorme
- bronchopulmonary dysplasia
- pneumothorax
- apnoea
- bradycardia, desaturations
Outline the circulatory problems preterm infants encounter?
Hypotension
Patent ductus arteriosus
Anaemia
How should nutrition of a preterm baby be managed?
- nasogastric tube feeding until 36 weeks
- parenteral nutrition required via PIC line or umbilical venous catheter
- breast milk supplemented with calories, vitamins, calcium, phosphates
What are the benefits to the mother when breastfeeding?
- reduces risk of breast, uterine, ovarian and endometrial cancer
- helps with bonding of the baby
- helps with weight loss
- improved health benefits
- free!!
What are the benefits of breastfeeding for the baby?
- passive immunity
- reduces risk of necrotising enterocolitis
- reduces risk of obesity
- less allergic diseases
- reduces risk of SIDS
- reduced GORD
What is the problem with preterm babies and breastfeeding?
premature babies struggle to suck as the sucking reflex starts at 36 weeks
Outline the neurological complications that a preterm baby is at risk of.
- haemorrhage
- retinopathy of prematurity
- hearing problems
- ventricular dilatation
- periventricular leukomalacia
what are the complications of retinopathy of prematurity?
blindness
retinal detachment
fibrosis
How is retinopathy of prematurity managed?
laser therapy
Why are preterm babies at increased risk of hypothermia?
- large surface area to volume ratio
- skin is thin and heat permeable
- little subcutaneous fat for insulation
- looked after naked so can’t conserve heat
How does hypothermia manifest?
hypothermia causes increased energy consumption which causes…
- hypoxia
- hypothermia
- failure to gain weight
- mortality!!!!
Outline the methods used to prevent hypothermia in a baby
- convection- raise temp of ambient air in incubator, clothe, avoid draughts
- conduction- nurse on heated mattress
- evaporation- dry the baby, wrap, humidify incubator
- radiation- cover baby, double walls for incubators
What is necrotising enterocolitis?
bacterial infection in the ischaemic bowel wall
usually the terminal ileum and proximal colon affected
inflammation can cause severe gut necrosis
Who is at risk of necrotising enterocolitis?
preterm babies
fed cows milk formulae **
How does a baby with necrotising enterocolitis present?
- present in 2nd week of life
- billious vomiting
- can’t keep down feeds
- distended abdomen
- stool contains fresh blood
- pain
- shock
What are the possible complications of necrotising enterocolitis?
bowel perforation
malabsorption
peritonitis
death!! - leading cause in preterm infants
List the changes seen on an x-ray of a child with necrotising enterocolitis
- 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
How is nectrotising enterocolitis managed?
- ABC
- artificial ventilation
- stop oral feeds
- start nutrition via TPN or NG tube
- broad spectrum antibiotics
How is jaundice caused?
increased breakdown of the red blood cells causes an increase in haemoglobin concentration and increase in serum bilirubin (leads to yellow skin and sclera)
List the causes of jaundice if presents at <24 hours of birth
SERIOUS !!
- congenital infections e.g. rubella, CMV, toxoplasmosis, herpes, hepatitis
- ABO incompatibility
- rhesus haemolytic disease
- haemolytic disorders e.g. G6PD deficient, pyruvate kinase deficiency, spherocytosis
List the causes of jaundice if presents between 24 hours - 2 weeks of birth
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
List the causes of jaundice presenting >2 weeks of age
SERIOUS !!
UNCONJUGATED- physiological, infection, congenital hypothyroidism*, upper GI obstruction e.g. pyloric stenosis
CONJUGATED- biliary atresia**, neonatal hepatitis (prolonged jaundice)
When does a baby become clinically jaundice?
bilirubin >80 umol/l
How is jaundice diagnosed?
coombs test - direct anti globulin test
TORCH screening
blood tests - FBC, UandE, TFT, LFTs
transcutaneous bilirubin meter
How is jaundice managed?
- correct dehydration and increase milk intake
- PHOTOTHERAPY - light from blue-green band at 450nm converts unconjugated bilirubin to water soluble pigment which can be excreted in the urine
- exchange transfusion
How does phototherapy help with jaundice?
converts unconjugated bilirubin to water soluble pigment excreted in urine
What can happen if the level of unconjugated bilirubin exceeds albumin binding capacity of bilirubin in blood?
KERNICTERUS =deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei
How do you determine the need for phototherapy?
plot bilirubin levels on chart to determine need for phototherapy
How does kernicterus present?
- encephalopathy
- seizures
- coma
+ poor feeding, lethargy, irritable, increased muscle tone
When does early onset sepsis occur?
occurs <48 hours after birth - bacteria ascended from the birth canal and invaded the amniotic fluid
What increases the risk of early onset infection?
premature rupture of the amniotic membranes
chorioamnionitis (when mother has fever during labour)
How might a preterm baby with sepsis present?
respiratory distress fever poor feeding irritable lethargy apnoea shock seizures
what is involved in a septic screen?
FBC
blood cultures
CRP
When does late onset infection occur in preterm babies?
> 48 hours after birth
source of infection if from the environment e.g. hospital acquired, via central venous catheters/ tracheal tubes, invasive procedures
What is the most common causative pathogen of late onset infection?
staphylococcus epidermidis
What are the risk factors for hypoglycaemia in a baby?
preterm
maternal diabetes
IUGR
hypothermic
polycythaemic
How might a baby with hypoglycaemia present?
irritable lethargy apnoea drowsiness seizures
How is hypoglycaemia prevented?
early and frequent milk feeding
When is blood glucose considered low in a newborn?
<2.6 mmol/l
what is developmental dysplasia of the hip?
shallow acetabulum doesn’t cover femoral head and dislocatable
List the risk factors of developmental dysplasia of the hip
females* breech presentation * family history of DDH * first born child prematurity oligohydramnios macrosomia
How is developmental dysplasia of the hip detected?
during newborn screening by..
Barlows test = dislocation
Ortolini test = relocation
+ ultrasound if suspect problem
How might a child present if developmental dysplasia of the hip is NOT detected?
unilateral limp
leg dragging
restricted movement
How is developmental dysplasia of the hip treated?
Pavlik harness +/- surgical reduction at under 4-5 months old
List the post natal screening tests offered to children
- newborn hearing- automated otoacoustic emissions test (at birth)
- newborn physical exam (72hrs-6 weeks old)
- newborn blood spot (Guthries) heel prick test (5-8 days old)
What is involved in the newborn physical examination?
occurs within 72 hours of birth- 6 weeks
full body examination focussing on…
- HIPS - Barlows and Ortolanis test
- GENITALIA- testes, ambiguous genitalia, imperforate anus, undescended tesyis
- HEART- murmur, femoral pulse, cyanosis
- EYES- red reflex (check for congenital cataracts), movement and coloboma
Which conditions are screened during the newborn blood spot (guthries test)?
- cystic fibrosis
- sickle cell anaemia
- congenital hypothyroidism
- phenylketonuria
- medium chain acyl-coA dehydrogenase deficiency
- maple syrup urine disease
- isovaleric acidaemia
- glutamic acuduria type 1
- homocystinuria
What are the causes of Downs syndrome (trisomy 21)?
- 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 - ROBERTSONIAN TRANSLOCATIOM
- MOSAICISM
Describe the facial features of a child with Downs syndrome
flat occiput round face flat nasal bridge epicanthic folds brush field spots in iris small mouth with protruding tongue small ears
Describe the other manifestations of Downs syndrome
single palmar crease wide "sandal" gap between big and 2nd toe hypotonia hirschspungs disease duodenal atresia atrioventricular septal defect
Outline the problems patients with Downs syndrome encounter later in life
delayed motor milestones learning difficulties short stature hypothyroidism impaired vision and hearing epilepsy alzheimers disease
How is downs syndrome detected?
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
On the triple and quad testing, what results indicate Downs syndrome?
high hCG
low alpha fetoprotein, oestriol, PAPP-A
thickened nuchal translucency
Describe the clinical features of Edwards syndrome (T18)
low birth weight prominent occiput low set ears rocker bottom feet overlapping fingers
What is the prognosis for Edwards syndrome?
poor prognosis
3% make it to live birth
median survival = 15 days
Describe the clinical features of Patau syndrome?
cleft lip and cleft palate polydactyly global developmental delay microcephaly scalp lesions
What is the prognosis for Patua syndrome?
many die in utero
80% of live births die within 1 year
10 year survival is <20%
What is the cause of Turners syndrome
45 chromosomes with only one X chromosome in females
Describe the clinical features of turners syndrome
short stature webbed neck widely spaced nipples amenorrhoea spoon shaped nails coarction of the aorta/ bicuspid aortic valve hypothyroidism
How is turners syndrome managed and what is the prognosis?
good prognosis if live birth
- growth hormone therapy
- oestrogen replacement
List examples of autosomal dominant inherited disorders
Neurofibromatosis Ehlers Danlos syndrome familial hypercholesterolaemia hunting tons disease marfan syndrome
Define autosomal recessive
an affected individual is homozygous for the abnormal gene so inherits an abnormal allele from each parent
Name examples of autosomal recessive disease
congenital adrenal hyperplasia cystic fibrosis friedrich ataxia glycogen storage disease phenylketonuria sickle cell disease Tay-Sachs disease thalassaemia
Describe X linked inheritance
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
Name examples of X linked inheritance disorders
colour blindness Duchenne and Becker muscular dystrophy Fragile X syndrome glucose-6-phosphate dehydrogenase haemophilia A and B Hunter syndrome
Describe the clinical features of fragile X syndrome
learning difficulties macrocephaly long face with large ears hypotonia mitral valve prolapse macro-orchidism
What is imprinting?
expression of some genes influenced by the sex of the parent who transmitted it
Describe the inheritance of prader will syndrome
example of an imprinting disorder
occurs if gene deleted from father
prader willi gene region found on chromosome 15
Describe the symptoms and signs of prader willi syndrome
hypotonia developmental delay obesity short stature dysmorphic features hypogonadism behavioural problems
What happens if gene deleted from mother of prader willi gene ?
angel man syndrome
What are the differential diagnosis for an unwell neonate?
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
What is biliary atresia?
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
How do neonates with biliary atresia present?
- mildy jaundiced after 2 weeks
- failure to thrive
- conjugated bilirubin -> dark urine, pale stools
- hepatomegaly + splenomegaly
How is diagnosis of biliary atresia diagnosed?
laparotomy by operative cholangiography - fail to outline the normal biliary tree
How is biliary atresia managed?
surgery performed before age of 60 days as 80% achieve biliary drainage…
- surgical bypass of the fibrotic ducts
- Kasai procedure
Define sudden infant death syndrome
sudden and unexpected death of an infant or young child for which no adequate cause is donut through post mortem examination
What is the most common cause of death in the first year of life?
sudden infant death syndrome (most commonly at 3 months)
List the major risk factors in SIDS
putting baby to sleep prone smoking prematurity bed sharing hyperthermia e.g. over-wrapping head covering
List other risk factors of SIDS
male sex multiple births lower social class maternal drug use incidence increases in winter
List some protective factors of SIDS
breast feeding
room sharing
use of dummies
What does the APGAR scoring system assess?
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
what is persistent pulmonary hypertension?
high pulmonary vascular resistance due to R to L shunting within lungs
How does persistent pulmonary hypertension present?
cyanosis at birth
Which investigations can be done to diagnose pulmonary hypertension?
Chest X ray -> pulmonary oligaemia
ECHO -> exclude CHD
How is pulmonary hypertension treated?
- mechanical ventilation
- circulatory support
- inhaled nitric oxide (vasodilator) or sildenafil
if SEVERE -> extracorporeal membrane oxygenation
What is meconium aspiration?
in 8-20% of births, meconium is passed before birth and can be inhaled and cause mechanical obstruction and collapse of the lung
How does meconium aspiration present?
persistent hypertension of newborn
How is meconium aspiration managed?
mechanical ventilation
what are the symptoms of meconium ileus?
failure to pass meconium within the first 48 hours
vomiting
abdominal distension
