Paeds emergencies, genetics and neonatology Flashcards
Recall 2 causes of neonatal collapse
Sepsis, CHD
Recall 4 possible causes of jaundice in the neonate
Breast milk, sepsis, feeding difficulty, physiological
Recall 4 common causes of rash in the neonate
Nappy rash, milia, erythema toxicum, mongolian blue spot
Recall 2 causes of seizures in the neonate?
Hypoglycaemia, HIE
Recall 4 milestones that should be reached by one year
Standing unsupported, pincer grip, “mama, dada, no”, fear strangers
Recall 5 milestones that should be reached by 18 months
Stack 2 blocks, walk unaided, separation anxiety, know 6-12 words, scribbles
Recall 2 milestones that should be reached by 2 years
Link 2 words in sentences, understand 2 step commands
Recall the milestones that should be reached by 3 years
Gross motor: Hop on one foot, walk upstairs one foot per step, downstairs two feet per step
Fine motor: Draws a circle, bricks in a bridge, makes single cuts in paper with scissors, string of beads
Speech/ language: understands negatives and adjectives
Social: begins to share toys, plays alone without parents, eats with fork and spoon, bowel control
What are the 4 domains of development?
Gross motor skills (develop head to toe), fine motor skills, language and speech, social skills
In what period of life should primitive reflexes be present?
From birth, to no later than 6 months
Recall the 5 primitive reflexes
Moro (sudden head drop –> arms outstretched)
Stepping
Rooting
Palmar and plantar grasp
Atonic neck (fencing posture)
Why do gross motor skills develop from head to toe?
That is how myelination develops
At what age should a child run and jump?
2.5 years
What is the limit age for walking independently?
18 months
At what age should children babble polysyllabically?
5 months
At what age should children say 6 words with meaning?
18 months
At what age should children be able to smile?
6 weeks
How can abnormal progression be classified?
Slow but steady, plateau, regression, acute insult
What is tested in the full physical exam (first 72 hours)?
Heart, hips, eyes, testes
When is the Guthrie heel prick test done?
At 7 days old
When is the new baby review done and what does it involve?
2 weeks: safe sleeping, vaccination, feeding, caring, development
How is hearing tested in the neonate, and when is this done?
Automated Otoacoustic Emission/ AOAE - at 4 weeks
When is the second full physical exam, and what does it involve?
At 6 weeks (done by GP) - DDH testing, testicles, heart, weight, length, vaccination discussion
Recall the timings of the immunisations done within the 1st year of life and what is included in each one
1st immunisations:
8 weeks - Men B, rotavirus, 6-in 1 DTaP/IPV/Hib/HepB
2nd immunisations: 12 weeks - also ‘6-in-1’ and rotavirus + pneumococcal
3rd immunisations: 16 weeks - ALSO 6-in-1 and a repeat MenB
4th immunisations: 1 year - 1st MMR + boosters
When is HBV given, and to which infants?
At birth, to those whose mother is infected
When is BCG given to eligible infants?
At birth
What is included in a health review?
Development, behaviour, healthy eating
When are the health reviews conducted?
1 and 2 years
When are the 5th immunisations and what do they include?
3 years 4 months
DTP, polio, 2nd MMR
What is checked at 4 years?
Vision
What is checked on school entry?
Height, weight, hearing
When are the 6th and 7th immunisations and what do they include?
6th immunisations are at 12-14 years: 2 x HPV (6,11,16,18)
7th immunisations = at 14 years, DTP, MenACWY
Which paediatric milestones are checked at the 1 year health review?
Gross motor - they should be walking unsteadily and standing independently
Fine motor - pincer grip (check for no hand dominance)
Hearing/ speech/ language - 2/3 words other than dada/mama with intent
Social/emotional/ behavioural - drink from cup with 2 hands
What is the mnemonic for remembering the components of the 6-in-1 vaccine?
Parents Will Immunise Toddlers Because Death -
Polio
Whooping cough
Influenzae B
Tetanus,
B (hepatitis)
Diptheria
What colours of skin would be a red flag in the traffic light system?
Pale/ mottled/ ashen/ blue
At what age is a child with fever always considered a red flag in the traffic light system?
<3 months
Recall how CPR differs in adults compared to children and neonates
Adults: 30:2
Children: 15:2
Neonates: 3:1
In the ABCDE formulation, what comes under ‘disability’?
AVPUG - Alert, voice, pain, unresponsive, glucose
What is the most common surgical emergency in newborn babies?
Necrotising enterocolitis
Describe the decorticate and decerebrate positions
Decorticate = bending wrists up to neck, decerebrate = wrists pointing out, arms straight down by sides
What is SIRS?
Generalised inflammatory response, defined by >/= 2 criteria:
Must inculde one of:
- Abnormal temp (<36, >38.5)
- Abnormal WCC
The other criteria are:
- Abnormal HR
- Raised RR
How is a high risk sepsis diagnosed?
CVS: hypotension, prolonged cap refil, O2 needed to maintain SpO2
Blood lactate >2
Pale, mottled or non-blanching purpuric rash
RR abnormal or grunting
What is the sepsis 6 pathway in adults?
Oxygen
Blood and blood cultures
IV Abx
IV fluids
Check serial lactates
Check urine output
What is the difference between Sepsis and SIRS?
Sepsis = SIRS with infection
How is severe sepsis defined?
Sepsis with CV dysfunction, ARDS or dysfunction 2 or more organs
How is septic shock defined?
Sepsis with CV dysfunction persisting after at least 40mL/kg of fluid resuscitation in one hour
What are the common organisms implicated in early onset neonatal sepsis?
GBS, E coli, L monocytogenes
Which organism is most likely to cause late onset neonatal sepsis?
Coagulase-negative staphylococcus (CoNS) eg. Staph. Epidermis
Which children with sepsis should have an LP?
<1 month old, 1-3 months who appear unwell/ have an WCC <5 or >15
What is the sepsis 6 pathway in children?
Give:
1. High-flow oxygen
2. Antibiotics
- Early-onset neonatal = cefotaxime, amikacin + ampicillin
- Late-onset neonatal =meropenem+ amikacin + ampicillin
- >3m old = ceftriaxone)
3. Early senior input
4. Early inotropic support
5. Fluid resus if indicated (20mls/kg 0.9% NaCl over 5-10 mins)
Take:
1. Bloods:
FBC (abnormal WCC?)
U&E + CRP (?urosepsis)
Glucose
Clotting (?DIC)
ABG and lactate
Which Abx are most useful in meningococcal sepsis?
IM benzylpenicillin (in the community) or IV cefotaxime (in hospital)
Which Abx are most useful in early onset neonatal sepsis?
Most likely to be GBS, L. monocytogenes or E coli so: IV cefotaxime + amikacin + ampicillin
Which Abx are most useful in late onset neonatal sepsis?
Most likely to be CoNS (s. epidermis) so: IV meropenem + amikacin + ampicillin
What is opisthotonos?
Hyperextension of neck and back
What are the two ‘signs’ indicative of meningitis?
Kernig’s sign: pain on leg straightening
Brudzinski’s sign: supine neck flexion –> knee/ hip flexion
What type of rash is often present in meningitis and what type of meningitis is this most common in?
Non-blanching - usually meningococcal
How does the HR change throught the course of illness in meningitis?
Starts high to compensate for brain ischaemia, then drops to as baroreceptors sense high BP
What symptoms make up Cushing’s triad of high ICP?
High BP + low HR + irregular RR
In what order should meningitis investigations be done?
First: LP if not contraindicated to identify source of infection
Next:
1. VBG: including glucose and lactate
2. Blood cultures (must be done BEFORE empirical abx started)
3. FBC, CRP, UandE and creatinine
(After this - give broad spec abx at highest possible dose without delay)
As well as sepsis 6 pathway + Abx, what should the management be in meningitis in children?
- Steroids (dexamethosone) if CSF shows purulent CSF, WBC >10000, WCC + protein >1g/L, bacterial gram stain and ONLY if it’s not meningococcal
- Mannitol (to reduce ICP)
- IV saline NaCl
What potential longterm complications of meningitis might need to be discussed with a child’s family?
Hearing loss, renal failure, neurodevelopmental conditions
Purpura fulminans - the haemorrhagic skin necrosis from DIC
What are the most common causes of viral meningitis?
Coxsackie Group B, echovirus
What is encephalitis?
Inflammation of the brain parenchyma
What are the 3 possible aetiologies of encephalitis?
- Direct invasion of cerebellum (eg HSV)
- Post-infectious encephalopathy = delayed brain swelling following neuroimmunological response to antigen
- Slow virus infection (eg HIV or SSPE following measles)
What are the signs and symptoms of encephalitis?
Same as meningitis - might not be able to tell the difference clinically! If there is a behavioural change is more likely to be encephalitis
What are some contraindications for LP?
Cardiorespiratory instability
Signs of raised ICP
Thrombocytopaenia
Focal neurology
Coagulopathy
Meningococcal meningitis
How should encephalitis be managed?
IV acyclovir (high dose) for 3 weeks - HSV is a rare cause but complications are major so treat empirically
What should be added to the treatment regime if it’s a CMV encephalitis?
Ganciclovir and Foscarnet
What is anaphylaxis?
Type 1 hypersensitivity reaction - IgG cross-linking with IgE membrane-bound Ab of mast cell/ basophil
What is the most common cause of anaphylaxis in children?
Food allergy (85%)
What is the dose of IM adrenaline in paediatric anaphylaxis?
1:1,000
When can a repeat dose of IM adrenaline be given in paediatric anaphylaxis treatment?
If response after 5 mins is insufficient
After giving adrenaline, how should anaphylaxis be managed?
Establish airway + high flow O2
IV fluids (crystalloids)
IV chlorpheniramine
IV hydrocortisone
Salbutamol if wheeze
What is the first thing that must be done on observation of a dry baby at delivery?
Note time!
What must be done within the first 30 seconds of a neonatal resuscitation?
Assess tone, RR, HR (femoral and brachial) and colour
What must be done within the first 60 seconds of a neonatal resuscitation?
If not breathing, open airway and do 5 INFLATION BREATHS
Reassess and repeat until chest movement seen
Once chest movement is seen in a neonatal resuscitation, what should be done next?
Ventilate for 30s
Then chest compression and ventillation with a rate of 3:1
If HR remains undetectable/ slow in a neonatal resuscitation, what should be considered?
Consider venous access and drugs
When should the Apgar score be used?
At 1 min and 5 mins after delivery, and every 5 mins after if condition remains poor
What apgar score is considered normal?
> 7
What are the components of the apgar score?
Appearance (colour)
Pulse
Grimace
Activity (muscle tone)
Respiratory
What should be considered if, after tracheal intubation, HR does not increase and good chest movement is not achieved in a neonatal resuscitation?
DOPE:
Displaced tube
Obstructed tube
Patient (tracheal obstruction? Lung disorder? Shock? Choanal atresia?)
Equipment failure
When should 5 rescue breaths be given in paediatric BLS?
DR AB RESCUE BREATHS CDE
At what BPM should chest compressions be done in paediatric BLS?
100-120
Recall the signs and symptoms of Patau’s
Use mnemonic ‘microcephaly’:
M - mental retardation
13 (trisomy)
C - cleft lip and palate
R - renal
O - omphalocele
C - cardiac
E - eyes small
P - polydactyly
H - holoprosencephaly
L - lbw
Recall some key features of Edward’s syndrome
Ears low set
Disability of intellect
Weight low
Omphalocele
Overlapping fingers
Rockerbottom. feet
Renal
D heart
Small mouth and chin
Recall some key features of Down’s
Single palmar crease, ‘sandal gap’ abnormality, upslanting palpabral fissures
What is mutated in Noonan’s syndrome?
RAS/ MAPK
Recall the features of Noonan’s
Webbed neck, trident hairline, pectus excavatum, short stature, pulmonary stenosis
What is the genetic difference between PWS and Angelman’s?
PWS = lack paternal 15q, Angelman = lack maternal 15q
What is the genetic mutation in Turner’s?
Female missing/ partly missing an X chromosome
Recall some features of Turners
Neonatally: pyloric stenosis + cardiac problems
Infertility due to ovarian dysgenesis
Koilonychia
Wide carrying angle
Webbed neck
Bicuspid aortic valve –> aortic coarctation –> ESM over aortic valve
Recall 4 features of Kleinfelter’s
Infertility, hypogonadism, gynaecomastia + tall stature
What mutation causes fragile X?
CGG trinucleotide expansion - FMR1 gene
Recall the symptoms of Fragile X
MALE MOPS
M - macrocephaly
A - autism
L - laxity of joints
E - ears are large and low-set
M - macro-
O - orchidism
P - prolapsed MV complication
S - scoliosis
What is the triad of abnormalities seen when there is maternal rubella during pregnancy
Cataracts, deafness, cardiac abnormalities
What is the prognosis for Patau’s syndrome?
80% die in first month
What is the prognosis for Noonan’s?
Varies massively as penetrance varies massively too
What is the phenotype of Angelman’s?
Facial appearance abnormal
Ataxia
Cognitive impairment
Epilepsy
What is the most common heart defect in Down’s syndrome?
AVSD
Recall some of the possible later complications of Down’s syndrome
Secretory otitis media (75%)
OSA (50-75%)
Learning difficulty
VI Joint laxity
Recall some conditions that those with Down’s are at an increased risk of developing
AML, hypothhyroidism, coeliac, epilepsy, early-onset alzheimer’s
What should be checked for annually in those with Down’s syndrome
Hearing test, thyroid, eye test, Hb (for IDA),
What classifies as a stillbirth (rather than a miscarriage)?
Foetus born with no signs of life >24 weeks of pregnancy
What is the difference between the perinatal and neonatal mortality rate?
Perinatal = stillbirths + deaths within 1st week, whereas neonatal = deaths of live-born infants in first 4 weeks after birth
For how long is a baby considered a neonate?
Up to 28 days old
What is considered ‘term’?
27-41 weeks old
Recall the cutoff rates for low, very low and extremely low birthweight
Low = <2500g
Very low = <1500
Extremely low = <1000
How is small/large for gestational age calculated?
Small = in <10th centile, large = >90th centile
What does a routine neonate inspection exam include?
Head to toe systematic:
1. Birthweight and gestational age
2. General observation - posture? Pallor? Rash?
3. Head (many things to look for)
4. Breathing and HR and peripheral saturations
5. Femoral pulses and genitalia
6. Musle tone, DDH, whole of back and spine, DDH/ Club feet?
7. Reflexes
What is being looked for upon examination of the neonatal head ?
Head circumference (macrocephaly?)
Eyes (red reflex?)
Cephalohematoma (benign, self-resolving)
Caput Succedaneum = Cross Suture lines (self-resolving)
Tense fontanelle (raised ICP?)
Depressed fontanelle (dehydrated?)
What are the primitive reflexes?
Moro
Stepping
Asymmetric tonic
Palmar
Babinski’s
What are the components of the test for DDH?
Barlow’s (abduct and push joint posteriorly)
Ortolani’s (lift and externally rotate)
What is the Guthrie test?
Biochemical screening
When should the Guthrie test be done?
At 7 days old
What is included in the Guthrie test?
Congenital hypothyroidism
SCD
CF
6 metabolic diseases:
- PKU
- MCADD
- Maple Syrup Urine disease
- IVA (isovaleric acidaemia)
- Glutaric aciduria type 1
- HCU (homocysteinuria )
Which type of infection can cause sensorineural hearing loss in neonates?
CMV