Paediatrics Flashcards

1
Q

DM at 6-8 weeks

A

GM: supports head
FM: tracks with eyes past midline
LH: orients eyes to sounds, coos
S: smiles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

DM at 6 months

A

GM: sit with support, rolling
FM: transfers, hand to mouth, grasping
LH: head to sound, responds to name, different sounds on need
S: interested in people, recognises familiar faces

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

DM at 9 months

A

GM: crawls, stands with support, pulls to stand
FM: pincer grip
LH: understands no, babbling
S: stranger anxiety, favourite toy, peek a boo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

DM at 12 months

A

GM: walks with support, cruises
FM: points, bangs objects together, should not prefer one hand
LH: mumma, dadda
S: waves, preference for caregiver, using objects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

DM at 18 months

A

GM: runs, throws
FM: scribbles vertically, handedness
LH: six words, can point to some body parts
S: uses spoon and cup, points to items

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

DM at 2 years

A

GM: stairs, kicks ball
FM: scribbles horizontally
LH: two word sentence, follow simple command
S: helps in dressing, parallel play, interest in children

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

DM at 3 years

A

GM: jumps, catches ball
FM: draws circle, use scissors
LH: 3 word sentences, name, age and sex, some colours
S: dresses with supervision, interactive play, makes friends

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

DM at 4 years

A

GM: hopping
FM: draws square
LH: 4 word sentences, asks why and how
S: imaginative play, toilet trained, dresses self

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

DM at 5

A

GM: skips
FM: draws triangle
LH: 5 word sentence, fluent speech, tells stories
S: understands rules, sense of humour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Autism spectrum disorder criteria

A

A) deficits in social communication and interaction with deficits in all of:
RNR
-reciprocity
-non-verbal communication
-relationship development and maintenance

B) restrictive, repetitive movements, interests or activities with 2 of:
SOAR
-sensory input hypo/hyper reactivity
-obsessive, restricted interests
-adherence to rules and routines
-repetitive movements, speech, use of objects

C)

  • not better explained by ID
  • appears during development
  • causes functional impairment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Background ASD

A

Prevalence

  • 1% population
  • 3 to 4 x male predominance

Risk factors

  • male sex
  • sibling with ASD
  • poor perinatal or maternal health
  • maternal medications (valproate)
  • advanced parental age
  • genetic disorders (tuberous sclerosis)

Pathogenesis

  • heritability 30-90%
  • epigenetic theory
  • mostly polygenic
  • > no gene accounts for >1% of cases
  • predominately due to abnormal neural connectivity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Non pharm treatment ASD

A

Intensive behavioural interventions

  • reinforce desirable/decrease undesirable
  • uses reward based system

Developmental and relationship models

  • aim to teach critical skills that have not been learnt
  • many different models (eg. Denver) with different focuses

Parent mediated interventions

  • training parents in specific behavioural intervention
  • improves efficacy and parents sense of wellbeing

Effective programs

  • start early
  • intensive
  • parental involvement
  • high staff:student
  • school teacher with expertise
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Pharm interventions ASD

A

Inattention and hyperactivity

  • stimulants
  • > methylphenidate
  • > dextroamphetamine
  • atypical antipsychotics
  • > risperidone

Behavioral disturbance

  • atypical antipsychotics
  • > risperidone
  • > aripiprazole

Repetitive behaviors and rigidity

  • SSRIs help with anxiety component
  • > fluoxetine

Anxiety and depression
->SSRIs as usual

Mood lability
-atypical antipsychotics, SSRIs and mood stabilizers have not been in ASD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

normal newborn vitals

A

Transitional period

  • first 4-6 hours
  • assess vitals every 30-60 minutes

Temp

  • normal
  • > 36.5-37.5
  • abnormal
  • > sepsis
  • > maternal fever

RR

  • normal
  • > 40-60
  • abnormal
  • > tachy = cardiac or resp disease
  • > apnea = CNS depression or NMD

HR

  • normal
  • > 120-160
  • > can be lower in sleep
  • abnormal
  • > cardiac or respiratory disease
  • > sepsis
  • > metabolic disease

Colour

  • normal
  • > pink or acrocyanosis
  • abnormal
  • > cyanosis = resp or cardiac disease

Tone/posture/movement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

benign skin findings in newborn

A
  1. Acrocyanosis
    - blue hands and feet
  2. Erythema toxicum
    - small white papules on erythematous base
    - usually on trunk
    - never soles or palms
  3. Transient pustular melanosis
    - generalised pustules
    - no base
    - pustules leave temporary hyperpigmented macules
    - occurs transiently in some african newborns
  4. Miliae
    - white papules on nose and cheeks
    - retention of keratin and sebaceous fluid in pilosebaceous gland
  5. Salmon patches (naevus simplex)
    - pink/red patches
    - eyelid, upper lip, forehead, nape of neck
    - capillary malformation
  6. Mongolian spots
    - blue/green/brown macules
    - delayed disappearance of dermal melanocytes
  7. Infantile haemangiomas
    - differentiate from congenital
    - can occlude airway/be part of syndrome
    - proliferate then involute
  8. Jaundice
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Pathological skin findings in newborn

A

Ritters disease of the newborn (staph infection)

  • > staphylococcal scalded skin syndrome
  • > disseminated staph aureus infection
  • > toxins cause flaccid bullae to erupt days after birth
  • > generalised erythematous rash
  • > nikolskys sign (exfoliation of skin with gentle rubbing)

Staph and step infection

  • Bullous impetigo
  • > small vesicles become flaccid bullae and crust
  • > staph aureus
  • Non bullous impetigo
  • > erythematous macule becomes vesicle or pustule and crusts
  • > can be caused by s. aureus or s. pyogenes

Neonatal herpes

  • Primary herpes
  • > erythematous papules/vesicles/crusts
  • > face/scalp
  • > after vaginal delivery

Port wine stains

  • > blanchable erythematous patches
  • > low flow through capillaries
  • > grow with child, become thicker and darker
  • > associated with genetic conditions

Café au lait spots

  • hyperpigmented skin lesion
  • associated with neurofibromatosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Normal posture in newborn

A
  1. Head in midline
  2. Limbs:
    <28 weeks = extension of limbs
    >32 weeks = flexion at knees
    >38 weeks = all limbs flexed
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Movement in newborn

A

Symmetrical, spontaneous movement

  • normal
  • absence
  • > birth injury
  • > neurological abnormality
  • > genetic syndrome

Jerking

  • normal
  • > during sleep
  • > benign for first few months
  • pathological (seizures)
  • > nystagmus
  • > stereotypes (lip smacking, grunting etc)

Fasciculations

  • normal
  • > sensitive to stimulation
  • > interrupted by flexion
  • pathological
  • > persistant or exaggerated
  • > hypoglycaemia/hypocalcaemia/sepsis/asphyxia

Lower cranial nerve palsies

  • difficulty swallowing
  • abnormal cry
  • inspiratory stridor

Apnoea

  • brainstem dysfunction
  • seizure
  • phrenic nerve palsy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Primitive reflexes

A

Moro

  • present at 32 weeks
  • disappears by 6 months

Stepping

  • present at 32 weeks
  • disappears by 2 months

Palmar/plantar grasp

  • present at 32 weeks
  • palmar disappears by 3 months
  • plantar disappears by 6 months

Asymmetrical tonic neck reflex

  • never normal when present unprovoked
  • present by 1 month post natal
  • disappears by 4 months
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

rules of thumb for speech screening

A

1yrs
-1 word

2yrs

  • 2 word phrases
  • 1/2 understood by strangers

3yrs

  • 3 word sentences
  • 3/4 understood by strangers

4yrs

  • 4 words, conversational
  • almost all understood

5 years

  • 5 word sentences
  • complex sentences
  • fluent and comprehensible
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

rules of thumb for weight

A

Average weight

  • 3.5kg at birth
  • 10kg at 1 year
  • 20kg at 5 years
  • 30kg at 10 years

Weight change

  • weight loss in first few days = up to 10%
  • return to birth weight = by 10 days
  • double birth weight = by 6 months
  • triple birth weight = by 1 year
  • quadruple birth weight = by 2 years

Weight gain

  • > 30g/day until 3 months
  • > 20g/day until 6 months
  • > 10g/day until 12 months
  • > 2kg/year from 2 years to puberty

Finger rule

  • left hand = 1,3,5,7,9
  • right hand = 10,15,20,25,30
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

rules of thumb for height/length

A

Average length/height

  • at birth = 50cm
  • at 1 year = 75cm
  • at 3 years = 3ft (90cm)
  • at 4 years = 100cm
  • > double birth length

Rate of growth

  • 1 inch/month until 6 months
  • 0.5 inch/month until 12 months
  • slows considerably between 1 and 4 years
  • there after 2 inches per year between 4 and puberty
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

measuring growth

A
Length
-until approx 2 years
Height
Weight
Head circumference
-until 2 years old
Growth velocity 
Proportionality
-height for weight
->until 2 years old
-BMI
->after two years old
-US:LS
->distinguishes aetiology of tall/short stature
->approx 1.7 at birth
->approx 1 by age 10 
->less than 1 thereafter
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

aetiology and risk factors poor weight gain

A

Risk factors

  • medical
  • > premature
  • > intrauterine growth restriction
  • > intrauterine exposures
  • > genetic disorder
  • > ANY disease process
  • psychosocial
  • > poverty
  • > poor parenting skills
  • > disordered feeding techniques
  • > violence or abuse

Aetiology

  • nutrition going in
  • > inadequate intake
  • > inadequate absorption
  • > inadequate metabolism
  • nutrition going out
  • > increase urinary or faecal losses
  • > increased caloric needs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Evaluation of poor weight gain

A

Hx

  • age of onset
  • medical hx
  • diet and feeding
  • > vomiting/diarrhoea/rumination
  • > picky eating, anorexia
  • > food preferences/avoidance
  • > dietary restrictions or beliefs
  • > anatomical abnormalities
  • psychosocial
  • > stressors (poverty)
  • > access to resources
  • > feeding skills and knowledge
  • > maternal health

Exam

  • measurements
  • > consider velocity and proportionality
  • appearance
  • > lethargic
  • > wasted
  • > dehydration
  • caregiver-child interaction
  • behaviour and development
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Breast feeding, compliment feeding/supplementation

A

Breastfeeding

  • recommended as exclusive source for 6 months
  • by 1 year most infants predominately on solids
  • benefits
  • > antimicrobial effects (IgA, HMO)
  • > promotes GI growth and function
  • > reduces risk of acute illnesses
  • > protects against chronic disease (T1DM, IBD)
  • > reduces morbidity and mortality

Compliment feeding

  • introduce compliment foods at 6 months
  • by then breast milk deficient in
  • > energy
  • > protein
  • > iron (plus vitamin C for absorption)
  • > zinc
  • > fat soluble vitamins (vitamin D)
  • cereals recommended first
  • > high in iron
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Causes of short stature

A

Benign

  • familial short stature
  • > length/height velocity normal
  • > weight/length normal
  • > bone age matches chronological age
  • constitutional delay of growth and puberty
  • > normal birth size
  • > at 3-6 months growth rate declines below normal
  • > by 3-4 years growth rate is normal, but remain below 3rd gentile for height
  • > puberty and pubertal growth spurt is delayed
  • > growth spurt prolonged so that adult height within normal range
  • > bone age matches expected age for height
  • idiopathic short stature
  • > growth velocity normal
  • > no obvious cause
  • > thought to be polygenic or epigenetic cause
  • small for GA with catch up growth
  • > reach normal range within 2 years

Pathological (SMUDGE)

  • steroids
  • metabolic disorders
  • > diabetes
  • undernutrition
  • disease (any)
  • genetic disorder
  • > turners
  • > SHOX syndrome
  • > noonans
  • endocrine disease
  • > hypothyroidism
  • > precocious puberty
  • > cushings
  • > growth hormone deficiency
28
Q

APGAR

A

Activity
0 = limp
1 = some flexion
2 = active

Pulse
0 = absent
1 = <100
2 = >100

Grimace
0 = none
1 = grimace
2 = sneeze/cough

Appearance
0 = blue/pale
1 = acrocyanosis
2 = pink

Respiratory
0 = absent
1 = irregular/slow
2 = crying/good

performed at 1 and 5 mins
<3 = concerning
>7 = reassuring

29
Q

treatment strep pharyngitis

A

Viral

  • supportive treatment only
  • > fluids
  • > paracetamol
  • > NSAIDs
  • > lozenges/honey/rest

Strep

  • supportive treatment for everyone
  • > return if symptoms >7 days or new symptoms develop
  • shared decision making
  • > symptoms usually last 7 days
  • > antibiotics only shorten symptoms by 1 day
  • > antibiotics reduce risk of complications
  • > antibiotics have their own risks
  • antibiotics recommended for high risk groups
  • > ATSI
  • > scarlett fever
  • > rheumatic heart disease
  • > severe strep pharyngitis
  • antibiotic therapy
  • > oral phenoxymethylpenicilin for 10 days
30
Q

Outline of GAS pharyngitis complications

A

GRASP FATSO

Post streptococcal glomerulonephritis

  • more common in kids and developing world
  • due to immune complex disease
  • > complement activation and inflammation
  • pathology
  • > light microscopy = proliferative glomerulonephritis
  • > IF = granular IgG and C3 deposition (starry sky)
  • > electron microscopy = sub epithelial humps
  • clinical
  • > asymptomatic to nephritic syndrome

Rheumatic fever

  • developing world/low SES
  • latent period of approx 3 weeks

Scarlet fever

  • scarlatiniform rash
  • > delayed hypersensitivity to strep exotoxin
  • > strawberry tongue
  • > circumoral pallor
  • > treatment as usual for pharyngitis

Post streptococcal reactive arthritis

  • unsure if it is seperate from polyarthritis of ARF
  • > occurs earlier
  • > less responsive to NSAIDs
  • > less association with carditis

PANDAS

  • paediatric autoimmune neuropsychiatric disorder associated with group A strep
  • controversial existence/autoimmune basis
  • temporal association between GAS infection and
  • > tic disorder
  • > OCD

Fasciitis

  • pathogenesis
  • > usually when predisposing trauma has occurred
  • > due to haematogenous spread
  • > spreads along fascia plane (poor blood supply)
  • > surrounding muscle spared (good blood supply)
  • presentation
  • > abrupt onset pain
  • > erythema of overlying skin (may also be unaffected)
  • > bullae
  • > systemically unwell (can become septic)
  • diagnosis
  • > surgical exploration with gram stain is definitive
  • > CT best imaging (shows gas in soft tissue plane)

Abscess
-usually polymicrobial, including GAS

Streptococcal toxic shock syndrome

  • rare complication
  • shock with multi-organ failure
  • due to inflam cytokines and increased cap permeability

Sinusitis

  • common complication
  • direct extension from nasopharynx along ostiomeatal complex

Otitis media

  • common complication
  • due to direct extension along eustachian tube
31
Q

hand, foot and mouth/herpangina overview

A

Epidemiology

  • both under school age
  • can occur in endemics

Aetiology

  • virology
  • > multiple serotypes of enterovirus species
  • > most common enterovirus species is enterovirus A
  • > most common group is coxsackie A and enterovirus

Pathophys

  • transmission
  • > as usual for enterovirus
  • > can be from ingestion of vesicle secretions

HFMD presentation

  • hx
  • > sore throat/poor feeding
  • > fever
  • > usually no systemic features
  • exam
  • oral endathem and/or exanthem
  • oral endanthem
  • > anywhere in anterior half of mouth including tongue
  • > begins as erythematous macules/papules
  • > becomes small vesicles with erythematous halo
  • > vesicles rupture forming small ulcers
  • exanthem
  • > can occur anywhere (face and trunk uncommon)
  • > same appearance as endanthem
  • > non pruitic
  • > may or may not be painful

Herpangina presentation

  • hx
  • > abrupt onset
  • > high fevers
  • > systemic features more likely (malaise/headache etc)
  • > sore throat/poor feeding
  • exam
  • > oral endanthem
  • > similar appearance to HFMD but posterior half of mouth
  • > no exanthem

Investigations

  • usually not necessary
  • > PCR
  • > viral culture

Treatment

  • prevention
  • > hand hygiene after blisters, cough/sneeze, toileting
  • > avoid sharing items (cutlery, toothbrush etc)
  • > avoid school/day care until blisters dry
  • > note virus shed in stools for weeks/months after
  • > safety net (blisters last for about a week)
  • public health
  • > not notifiable
  • > consider informing school/day care
  • supportive
  • > fluids/electrolytes
  • > analgesia (NSAIDs/paracetamol)
  • > don’t pop blisters
32
Q

fetal circulation and oxygenation

A

Circulation

  • highly oxygenated blood passes from placenta through umbilical vein
  • > largely by passes liver due to ductus venosus
  • joins poorly oxygenated blood in IVC
  • enters right atrium
  • > shunted across FO more than poorly oxygenated blood due to streaming effects
  • majority of CO is from right ventricle
  • > only 10% of total CO goes to lungs
  • > majority of RVO goes through ductus arteriosus
  • ductus joins aorta at isthmus (after left subclavian)
  • > means that coronary/brain Pa02 is high
  • placenta is very low resistance circulation
  • > majority of descending aorta flows through umbilical arteries (from internal iliacs)
  • > makes whole systemic circulation low resistance
  • lungs filled with fluid
  • > making pulmonary circulation high resistance

Oxygenation

  • very low PO2 in-utero
  • > approx 55mmHg in umbilical vein
  • > approx 15mmHg in umbilical arteries
  • adequate tissue oxygenation due to
  • > high O2 affinity of fetal Hb
  • > decreased O2 consumption (thermoregulation, respiratory effort, digestion decreased)
  • > preferential delivery of high P02 blood to vital organs (ductus venosus, carotids/coronarys before isthmus)
  • low PO2 maintains fetal circulation dynamics
  • > causes pulmonary vasoconstriction
  • > causing high pulmonary resistance
  • > promotes shunting through PO and DA
33
Q

Physiological transition at birth

A

Alveolar fluid clearance

  • eNAC
  • > allows secretion of water during gestation (promoting lung growth and development)
  • > increase in catecholamines late in gestation causes eNAC to absorb Na and draw water out of alveoli
  • > this increases at birth due to high PO2
  • Initial breaths
  • > inspiratory and expiratory pressures during initial breaths are far higher than normal
  • > drives alveolar fluid into interstitial
  • thoracic squeeze
  • > compression of chest during birth squeezes fluid out
  • > minimal contribution

Lung expansion

  • air movement begins with decreasing intrathoracic pressure during first breaths
  • lung expansion promotes surfactant secretion
  • > decreases surface tension (P=2T/R)

Circulatory pressure gradient

  • placenta is clamped
  • > increases systemic resistance
  • lung expands
  • > decreasing pulmonary vascular resistance
  • result
  • > DA begins to shunt left to right
  • > increases pulmonary blood flow
  • result
  • > increased oxygen saturation as some blood double-dips
  • > increased stroke volume increases cerebral perfusion

Change in shunts

  • close FO
  • > high systemic/low pulmonary resistance
  • > high left atrial/low right atrial pressures
  • close DA
  • > high oxygen saturation
  • > decrease in prostaglandins
34
Q

Causes of difficult transition to extra-uterine life

A

BICEP

Blockage of airways

  • congenital airway malformation
  • > bilateral choanal atresia
  • > robin sequence (glossoptosis)
  • mucus
  • meconium

Impaired lung function

  • external
  • > pneumothorax
  • > hydros fetalis
  • intrinsic
  • > RDS
  • > TTN
  • > neonatal pneumonia
  • pulmonary hypoplasia
  • > congenital diaphragmatic hernia
  • > oligohydramnios
  • > congenital anomaly of kidney and ureters

Congenital heart disease

poor respiratory Effort

  • CNS depression
  • > neonatal encephalopathy
  • > drug exposure
  • Neuromuscular disorder

Persistant pulmonary hypertension of newborn

  • pulmonary hypoplasia
  • > cross sectional area of pulmonary vasculature reduced
  • pulmonary dysplasia
  • > abnormal pulmonary vasculature muscle and ECM
  • > due to meconium aspiration syndrome
  • maladaptation
  • > vasoconstriction prevents decrease in PVR
  • > due to RDS, pneumonia, asphyxia
35
Q

Routine newborn assessment (baby check)

A

When

  • healthy baby
  • > at term
  • > good tone
  • > breathing or crying
  • within 48 hours
  • > always before discharge

Patient centred

  • seek parental consent
  • consider cultural needs
  • discuss
  • > purpose
  • > process
  • > limitations
  • ask about concerns

Hx

  • review delivery
  • > gestational age
  • > mode of delivery
  • > complications
  • > APGARs
  • > need for resuscitation
  • review current pregnancy
  • > complications
  • > screening tests (imaging and bloods)
  • > risk factors for sepsis
  • review past pregnancies
  • > congenital anomalies
  • > still births and SUDI
  • > genetic/syndromic conditions
  • maternal health
  • > blood group
  • > illnesses prior to and during pregnancy
  • > medications, alcohol, drugs
  • family hx
  • > genetic and congenital conditions
  • > still births and SIDS
  • > psychosocial dynamics
  • since birth
  • > vitals
  • > measurements
  • > medications
  • > feeding

Exam
-top to toe

36
Q

DM at 0-4 weeks

A

Smile
Focus and track with eyes
Startle to loud noise

37
Q

Routine management newborn (baby check)

A

Vitamin K

  • recommended for all shortly after birth
  • > prophylaxis for hemorrhagic disease of newborn
  • approx 1mg IM

Hep B

  • vaccine offered to all within 7 days
  • IgG offered when mum HBVsAg+
  • refusal when mum HBVsAg+
  • > counselling
  • > report to child services

Umbilicus

  • standard infection control only
  • > usual hand hygiene
  • > clamp 2cm from skin
  • > wash with soap and water
  • > expose to air (above nappy)
  • detachment
  • > usually at 1 week

Review feeding

Glucose

  • not routinely measured
  • indication for measurement
  • > pre term
  • > LGA or SGA
  • > diabetic mother
  • > family hx genetic hypoglycaemia

Newborn screening

  • blood spot
  • SWISH

Pulse oximetry for CHD

  • approx 30% with critical CHD missed on baby check
  • positive screen
  • > any limb <90%
  • > any limb <95% on three occasions
  • > pre-ductal 3% higher than post ductal
  • followed up with usual cyanosis evaluation

Jaundice

  • all babies
  • > review risk factors
  • > visual or transcutaneous (every 8-12 hrs)

Patient education

  • complete blue book (my personal health record)
  • normal newborn care
  • > sleep
  • > feeding
  • > urine and stools (frequency, colour, meconium passing)
  • > growth
  • > umbilical cord care
  • > detection of jaundice
  • health promotion
  • > injury prevention
  • > illness warning signs
  • > written information of SUDI
  • > breast feeding advocacy
  • > immunisation schedule
  • information on support agencies
  • arrange follow up
  • > one week
38
Q

Newborn bloodspot screening procedure

A

What

  • 25 medical conditions screened for
  • > Harry Potter MAGIC
  • biochemical test for screening
  • DNA testing
  • > only performed if positive screen
  • > for CF and fatty acid oxidation disorder

Why

  • About 1/1000 lead to diagnosis
  • False negative rate is 1/100,000
  • characteristic of diseases
  • > can be detected early
  • > result in serious illness or developmental delay
  • > early intervention is effective

Offered

  • to everyone
  • after 2-3 days
  • requires signed consent
  • refusal requires signature

Collection

  • prick heel with lancet
  • discard first drop
  • fill three circles on screening card
  • send to central laboratory

Results

  • after approx 2 days
  • not contacted if results are normal
  • if results abnormal
  • > contacted
  • > more blood collected for re-testing
  • if re-testing is positive
  • > referred to specialist

Storage

  • in a secure facility
  • 2 years minimum (auditing and quality)
  • after 2 years
  • > request card to be returned/destroyed
  • > if not, stored for 18 years (when content lapses)
  • access to card
  • > lab for further testing
  • > anonymised research
  • > court order or coroner
39
Q

Overview of blood spot screening diseases

A

Harry Potter MAGIC

hypothyroidism (primary congenital)

  • epidemiology
  • > 40 births/yr in NSW
  • aetiology
  • > dysgenesis (absence/abnormal thyroid gland)
  • pathophys
  • > growth retardation
  • > intellectual disability
  • management
  • > daily thyroxine

phenylketonuria (PKU)

  • epidemiology
  • > 10 births/yr in NSW
  • aetiology
  • > recessively inherited
  • > deficiency in phenylalanine hydroxylase
  • pathophys
  • > cannot break down amino acid phenylalanine
  • > severe intellectual disability
  • management
  • > low protein diet

medium chain acylCoa dehydrogenase deficiency

  • epidemiology
  • > 6 births/yr in NSW
  • aetiology
  • > inability to break down fat
  • pathophys
  • > coma and liver failure when seriously ill or fasted
  • > results in intellectual disability or death
  • management
  • > avoid fasting
  • > IV glucose when unwell

adrenal hyperplasia (congenital)

  • epidemiology
  • > 6 births/yr in NSW
  • aetiology
  • > genetic defect
  • > deficient in enzyme involved in cortisol biosynthesis
  • pathophys
  • > low cortisol
  • > increased ACTH
  • > adrenal gland hyperplasia
  • > high androgens and mineralocorticoids
  • > disordered regulation of metabolism, salt, response to infection, sex characteristics
  • management
  • > hormone replacement
  • > salt supplementation

galactocaemia

  • epidemiology
  • > 3 births/yr in NSW
  • aetiology
  • > deficiency in Gal-1-PUT
  • pathophys
  • > build up in galactose in blood
  • > liver failure and sepsis (potentially lethal)
  • > cirrhosis, renal tubular acidosis, cataracts, ID
  • management
  • > low galactose diet

inborn errors of metabolism (other rare)
-collectively account for approximately 20 births/year in NSW

cystic fibrosis

40
Q

SWISH overview

A

What
-audiology screening for all newborns

Why

  • incidence of permanent severe bilateral hearing loss
  • > 80 births/year in NSW
  • intervention before 6 months
  • > prevents poor health, social and cognitive impairement

Process

  • when
  • > ideally first few days of life
  • > up to 3 months
  • requires consent
  • > refusal documented in blue book
  • screening test
  • > automated auditory brainstem response (AABR)
  • > baby asleep or resting
  • > electrodes on head
  • > sound introduced through earphones
  • > waveform detected and compared to template
  • results available immediately
  • > parents informed of results
  • if negative
  • > routine surveillance
  • if positive
  • > second screen conducted to confirm result
  • still positive
  • > audiology test at john hunter, westmead or SCH
  • if diagnosed, referral to australia hearing
  • > different commonwealth funded interventions offered
  • document screening in blue book
41
Q

neonatal sepsis background

A

epidemiology
-incidence increases with decreasing GA

pathogenesis

  • vertical transmission (early onset)
  • > maternal genital tract
  • > contaminated amniotic fluid
  • horizontal transmission (late onset)
  • > contact with care provider and environment
  • > forceps and electrodes
  • > disruption of skin/mucosa (eg. canula)

aetiology

  • microbio
  • > GBS
  • > E. coli
  • > S. aureus (late onset sepsis)
  • > coagulase negative staph (premature infants)
  • > listeria monocytogenes (rare)
  • > herpes
  • risk factors
  • > maternal GBS infection
  • > chorioamnionitis
  • > intrapartum maternal temp >38
  • > premature
  • > membrane rupture >18hrs
  • > metabolic disturbance (reduces immune function)
42
Q

classification pre-term infants

A

GA

  • 34-37 = late pre-term
  • 32-34 = moderate pre-term
  • 28-32 = early pre-term
  • <28 = very early pre-term

Weight

  • normal = 2.5-4
  • low = <2.5
  • very low = <1.5
  • extremely low = <1
43
Q

Short/medium/long term complications of prematurity

A

Mortality and morbidity rates increase with decreasing GA and birth weight

Short-Term =GRINCHES

  • glucose
  • respiratory
  • > RDS
  • > apnea of prematurity
  • intraventricular haemorrhage
  • NEC
  • cardiovascular
  • > PDA
  • > BP
  • hypothermia
  • eyes (retinopathy of prematurity)
  • sepsis

Medium-Term (infancy/early childhood) = BANGERS

  • bronchopulmonary dysplasia
  • asthma hospitalisations
  • neurodevelopmental
  • > developmental delay
  • > cognitive and social impairment
  • > psychiatric illness
  • > cerebral palsy
  • growth impairment
  • enteritis
  • respiratory infections
  • SIDS

Long-term = KIILO

  • kidney disease
  • insulin resistance
  • IHD
  • lung disease (chronic of prematurity)
  • obesity
44
Q

RDS background and diagnosis

A

Epidemiology

  • over 90% of incidences RDS occur in extreme pre-term
  • still significant risk for late pre-term

Aetiology

  • surfactant production begins GA 20
  • alveolar budding (saccular stage) begins GA 24

Pathophys

  • surfactant
  • > phospholipids (detergent) and proteins (reabsorption)
  • > produced by type II alveolar cells
  • > production begins GA 20
  • > reduces surface tension (P=2T/R)
  • decrease in quantity/quality of surfactant
  • > atelectasis->decreased compliance/ventilation
  • pulmonary oedema and inflammation
  • > airway damage due to high pressures
  • > reduced lung expansion/eNAC expression = reduces alveolar fluid clearance
  • > worsens compliance/ventilation
  • > inactivates surfactant
  • shunting
  • > atelectasis/vasoconstriction = high pulmonary pressures
  • > right to left shunting across FO/DA
  • hypoxaemia
  • > due to poor ventilation/shunting

Clinical manifestations

  • almost always preterm infant
  • presents in first minutes to hrs of life
  • respiratory distress
  • cyanosis (due shunting/hypoxaemia)
  • decreased urine output
  • peripheral oedema
  • often improves over 48-72hrs with surfactant production

Investigations

  • ABG
  • > hypoxaemia
  • > hypercarbia and respiratory acidosis
  • > hyponatraemia (fluid retention)
  • CXR
  • > ground glass (atelectasis)
  • > air bronchograms (pulmonary oedema)
45
Q

RDS prevention and management

A

Antenatal corticosteroids

  • MOA
  • > accelerate development of type I and II alveolar cells
  • > surfactant production
  • > architectural maturation
  • > up regulation of eNAC = fluid resorption
  • > up regulation B1 receptors = surfactant release
  • Indication
  • > risk of at least moderate pre-term birth in next 7 days
  • > diabetes/gestational diabetes at risk of pre-term birth in next 7 days
  • > multiple pregnancies at risk of pre-term birth in next 7 days
  • Dose
  • > 2x12mg betamethazone IM 24hrs apart
  • > 4x6mg dexamethasone IM 12hrs apart
  • Timing
  • > greatest effect 2-7 days prior to birth
  • > still indicated if delivery expected within 24hrs

Management

  • CPAP
  • > preferred initial intervention
  • > at risk or confirmed RDS
  • > associated with long term morbidity
  • Consider caffeine therapy
  • > indicated extremely low birth weight
  • > prevents apnea of prematurity
  • Intubation
  • > indications = pH <7.2/FiO2>0.4/apnea
  • > associated with higher mortality and BPD
  • > complications = placement in right main/air leak
  • Exogenous surfactant
  • > given with intubation
  • > reduces mortality and morbidity
  • Supportive care (reduces caloric needs/O2 consumption)
  • > maintain thermonneutral temp
  • > monitor BP
  • > suspect PDA
  • > maintain slight negative fluid balance
  • > avoid diuretics
  • > adequate nutrition (may require enteral)
46
Q

Overview TTN

A

Epidemiology
-5/1000 births

Aetiology

  • > prematurity
  • > caesarian birth

Pathophys

  • > inadequate loss of alveolar fluid
  • > decreased compliance/ventilation/air trapping

Clinical manifestations

  • > onset usually immediately after birth
  • > respiratory distress
  • > chest clear to auscultation
  • > large chest

Investigations

  • rarely needed
  • ABG
  • > mild hypoxaemia
  • > hypercarbia with respiratory acidosis
  • CXR
  • > increased lung volumes
  • > cardiomegaly
  • > increased vascular markings
  • > fluid in interlobar fissures
  • > pleural effusion

Management

  • > usually resolves within 48hrs
  • > CPAP
  • > O2 supplementation
  • > consider ddx’s
47
Q

Neonatal (child) cyanosis causes

A

Peripheral cyanosis

  • high O2 extraction due to slow capillary flow
  • > acrocyanosis (cold and vasoconstriction)
  • > sepsis
  • > shock
  • > venous thrombosis
  • > polycythaemia

Normal A-a gradient (hypoventilation)

  • Upper airway obstruction
  • > congenital (laryngomalacia/choanal atresia/micrognathia)
  • > acquired (croup/epiglotitis/bacterial tracheitis/anaphylaxis)
  • Neurological
  • > neonatal encephalopathy
  • > intraventricular haemorrhage
  • > seizures
  • > drug exposure
  • > neuromuscular disorder
  • Apnea
  • > prematurity
  • > metabolic disorders

High A-a gradient hypoxic hypoxia

  • Impaired alveolar diffusion (pulmonary oedema)
  • > pulmonary parenchymal disease
  • > sepsis (ARDS)
  • > heart failure (CCHD/AVM)
  • V/Q mismatch
  • > RDS
  • > TTN
  • > pneumonia
  • > pneumothorax
  • > pleural effusion
  • > meconium aspiration syndrome
  • Right to left shunting
  • > CCHD
  • > PPHN

Anaemic hypoxia

  • Haemoglobinopathies
  • > methaemoglobinaemia (ferric haem iron) most common
  • Polycythemia
  • Carbon monoxide poisoning (smoke inhalation)

Histotoxic hypoxia
-Cyanide poisening (burning plastics/wool/rubber)

Stagnant hypoxia
-obstructive left CHD

48
Q

background CCHD

A

Epidemiology

  • CHD = approx 10/1,000 births
  • CCH = 15% of CHD
  • critical CHD = 25% of CHD

Aetiology

  • risk factors
  • > prematurity
  • > family hx
  • > genetic disorders
  • > maternal illness (diabetes/HTN/obesity/thyroid disorder)
  • > maternal exposure (drugs/alcohol/smoking/phenytoin)
  • > assisted reproductive technology
  • > in utero infection (influenza/TORCH)

Pathogenesis (5 T’s and heart failure)

  • Transposition of great arteries
  • TOF
  • Tricuspid valve abnormalities
  • > tricuspid atresia
  • > tricuspid stenosis
  • > epstein anomaly
  • Truncus arteriosus
  • Total anomalous pulmonary venous connection
  • Heart failure (CHIC)
  • > coarctation of aorta
  • > hypoplastic left heart syndrome
  • > interrupted aortic arch
  • > critical aortic valve stenosis
49
Q

Pathophys CCHD

A

TOF

  • VSD
  • > systemic/pulmonary mixing
  • over-riding aorta
  • > mixed CO
  • RV hypertrophy
  • stenotic pulmonary trunk
  • > decreased flow

Tricuspid atresia

  • no connect between RA/RV
  • right to left shunt through PFO
  • may have VSD/transposition of arteries

Tricuspid stenosis

  • hypoplastic RV
  • right to left shunting through PFO

Epstein anomaly

  • displacement tricuspid leaflets into RV
  • > RV outflow tract obstruction
  • tricuspid incompetence
  • > large RA
  • right to left shunt across PFO

TGA

  • aorta from RV/pulmonary trunk from LV
  • > two parallel circuits
  • > deoxy blood to systemic/RV & oxy blood to pulmonary/LV
  • survival due to mixing
  • > PFO/VSD/PDA

Truncus arteriosus

  • single outflow veseels
  • > gives rise to aorta/pulmonary/coronary arteries
  • always VSD
  • > mixing

Total anomalous pulmonary venous return

  • 4 pulmonary veins don’t drain to RA
  • > connection to vena cava/coronary sinus/portal vein
  • > mixing
  • right to left shunt across PFO

Hypoplastic left heart syndrome

  • varying degrees of
  • > aortic valve stenosis/atresia
  • > mitral valve stenosis/atresia
  • > ascending aorta hypoplasia
  • > LV hypertrophy/hypoplasia
  • PDA
  • > supplies systemic circulation
  • > subclavian/carotids/coronary via retrograde flow

Coarctation of the aorta

  • marked stenosis of aorta
  • > distal to left subclavian
  • > proximal to isthmus
  • PDA supplies lower systemic circulation

Interrupted arch aorta

  • complete interruption
  • most commonly between LSub and LCar
  • ductus continues as descending aorta
  • > mixed

Critical aortic valve stenosis

  • bicuspid aortic valve
  • in utero
  • > RVCO low and LVCO through DA
  • DA closes
  • > pulmonary flow/LA return increased
  • > if LV can’t fill or empty = failure/cyanosis
50
Q

Clinical manifestations CHD

A

Hx

  • review risk factors
  • family hx
  • > CHD
  • > arrhythmias (long GT syndrome)
  • > SIDs/childhood death
  • infants
  • > failure to thrive
  • > poor feeding
  • > lethargy and stopping feeds early
  • > resp distress during feeds
  • > irritability especially during feeds
  • > sweating during feeds
  • children
  • > exercise intolerance
  • > chest pain
  • > exertional syncope/syncope with chest pain
  • > tachypnoea/dyspnoea
  • > fever (cardiac path due to systemic disease)

Exam

  • pulse
  • > tachycardia/bradycardia
  • praecordium
  • > hyperkinetic/forceful apical impulse
  • > parasternal heave
  • > thrill
  • pathologic added sounds
  • > single or fixed splitting of S2
  • > clicks
  • > S3 gallop
  • > friction rub
  • pathologic murmurs
  • > holosytolic or diastolic
  • > high grade
  • > harsh or blowing quality
  • > louder when seated upright
  • additional
  • > tachypnoea
  • > crackles
  • > hepatomegaly
  • > syndromic features
51
Q

Clinical pictures of critical CHD in neonate

A

Shock

  • > obstructive left heart aetiologies
  • > worsens with ductus closure

Ductal dependent cyanosis

  • > right heart obstruction (lose retrograde flow to lungs)
  • > left heart obstruction (stagnant hypoxia)

Non ductal dependent cyanosis

  • > TOF
  • > truncus arteriosus
  • > total anomalous pulmonary venous return

Differential cyanosis

  • > coarctation of the aorta
  • > interrupted aortic arch

Tachypnoea

  • drop in PVR over first days = pulmonary oedema
  • > truncus arterious
  • > total anomalous venous return
  • > PDA
  • > VSD
52
Q

Investigations and cyanosis and CCHD

A
Pulse oximetry
-confirm cyanosis
-pre and post ductal
->difference >3% is sig. 
ECG
-may not be atypical
-normal
->right axis deviation
->RV hypertrophy
Glucose
->apnea
ABG
-PaO2
-PaCO2
->high suggest pulmonary aetiology
-low pH suggests shock
FBC
-high haematocrit = polycythemia 
-abnormal WCC = sepsis

CXR

  • evidence of lung pathology
  • > TTN
  • > RDS
  • > congenital lung abnormality
  • heart size
  • > cardiomegaly with left sided obstruction
  • heart shape
  • > boot shape = TOF
  • > egg on a string = TGA
  • pulmonary vascular markings
  • > reduced in CCHD/PPHN
  • > increased in left sided obstruction
  • right sided arch of aorta
  • > TOF
  • > truncus arteriosus

Echo

  • definitive diagnosis
  • > abnormal anatomy or flow

Consider hyperoxia test if no echo

  • measure before O2 administration
  • > PaO2 in right radial or
  • > SpO2
  • 10 mins of 100% O2
  • pulmonary disease if
  • > more than 150mmHg PaO2
  • > greater than 10% increase SpO2

Sepsis screen

  • important and common ddx for cyanosis
  • blood cultures
  • urinalysis and urine culture
53
Q

Initial management cyanosis and CCHD

A

Support airway and breathing

Specific pathway determined by ddx

  • undifferentiated shock
  • sepsis
  • cardiac specific
  • > PGE2 (alprostadil)
  • > maintains patent PDA
  • > can cause apnea/NEC/hypotension/tachycardia
  • > cardiac catheterisation (ballooning of obstructions)
54
Q

Evaluation neonatal cyanosis

A

Initial stabilisations

  • level of consciousness
  • airway patency
  • breathing movements
  • circulation
  • > heart rate, pulses and perfusion
  • > gain IV access

Hx

  • Description of event
  • > duration
  • > choking/gagging
  • > breathing or attempting to breathe
  • > level of consciousness
  • > level of tone
  • > movements
  • Description of prior events
  • > awake or asleep and positioning
  • > relation to feeding
  • > availability of choking hazards
  • > illness in prior days
  • > sick contacts

Exam

  • general appearance
  • > level of consciousness
  • > tone
  • > movements
  • > crying/noises
  • > breathing efforts
  • resp exam
  • > resp rate
  • > distress non specific
  • > wheeze/stridor more specific
  • > asymmetrical auscultation findings
  • cardio exam
  • > pulses in all four limbs
  • > radio-radial/radio-femoral delay
  • > brachial and popliteal BP (coarctation)
  • > added sounds or pathological murmur
55
Q

Risk factor screen cyanosis

A
  • Review labour
  • > GA
  • > complications/APGARs/resuscitation
  • > risk factors for sepsis
  • > meconium staining (PPHN)
  • > anaesthetic exposure (resp depression)
  • > caesarian (TTN)
  • Review pregnancy
  • > screening results
  • > oligohydramnios (BPD)
  • > polyhydramnios (tracheo-oesophageal fistula)
  • Maternal risk factors
  • > diabetes (CCHD/polycythaemia/TTN/RDS/hypoglycaemia)
  • > asthma (TTN)
  • > opioid use (respiratory depression
  • > HTN (IGR/polycythaemia/hypoglycaemia)
  • CHD risk factors
  • Family hx
  • > congenital diseases
  • > haemoglobinopathies
  • > RDS
  • > SIDS or serious childhood diseases
56
Q

Newborn jaundice overview

A

Epidemiology

  • incidence
  • > over half of all new borns
  • > approx 80% of pre term
  • incidence of severe
  • > less than 1/10,000
  • risk factors
  • > male
  • > asian
  • > maternal diabetes
  • > premature
  • > low birth weight
  • > decreased caloric intake/weight loss
  • > breast feeding

Aetiology

  • causes
  • > physiologic
  • > unconjugated (PREM PEACHES)
  • > conjugated/cholestasis (HABIT MAP)

Pathophys (physiological)

  • haem -> iron + biliverdin
  • biliverdin -> bilirubin (bound to albumin)
  • taken up by hepatocyte
  • UGT1A1 conjugates bilirubin + glucuronic acid
  • > water insoluble
  • active secretion into bile
  • unable to be absorbed across intestinal epithelium
  • in adult
  • > reduced to urobilin by colonic bacteria
  • > urobilinogen (urine)
  • > stercobilinogen (faeces)
  • in newborn
  • > increased enterohepatic circulation
  • > sterile gut
  • > more beta glucuronidase (un-conjugates)

Clinical manifestions

  • physiological jaundice
  • > appears after 2-4 days (later in asians)
  • > peaks lower than 150micromol/L
  • > formula feed = lasts 1 week
  • > breast feed = lasts 2 weeks
  • pathological jaundice
  • > within 24hrs
  • > lasting more than 2 weeks
  • > TB/TcB > 95th centile
  • > ABE/CBE
57
Q

Causes of newborn jaundice

A

Physiological

  • > more RBCs
  • > shorter RBC life span (approx 80 days)
  • > UGT1A1 activity very low until about 2 weeks
  • > sterile gut

Unconjugated (SPERM BEACH)

  • Sepsis
  • Polycythemia
  • Enterohepatic circulation
  • > meconium ileus
  • > hirschprungs
  • > pyloric stenosis
  • > intestinal stenosis/atresia
  • Rh or ABO incompatibility
  • Metabolic
  • > hypothyroidism
  • > galactocaemia
  • > maternal diabetes
  • Breast feeding
  • > breast milk jaundice
  • > lactation failure jaundice
  • Extravasation
  • > cephalohaematoma
  • > internal haemorrhage
  • > large haemangiomas
  • Albumin binding
  • > antibiotics
  • > asphyxia
  • > acidosis
  • Conjugation
  • > crigler Najjar 1 and 2
  • > gilberts
  • Haemolytic anaemia
  • > haemoglobinopathies
  • > G6PD
  • > spherocytosis

Conjugated (HABIT MAP)

  • Hepatocellular infections
  • > Hep A/B
  • > CMV
  • > rubella
  • Alagile syndrome
  • Biliary atresia
  • Idiopathic neonatal hepatitis
  • Total parenteral nutrition
  • Metabolic
  • > galactosaemiia
  • Alpha 1 anti trypsin deficiency
  • Progressive familial intrahepatic cholestasis
58
Q

Bilirubin induced neurological dysfunction overview

A

Epidemiology

  • acute bilirubin encephalopathy
  • > up to 10% with >30mg/dL
  • chronic bilirubin encephalopathy
  • > up to 25% with >30mg/dL
  • > almost all with >35mg/dL

Aetiology
-SPERM BEACH

Pathophys

  • high levels of unbound unconjugated bilirubin
  • > cross BBB
  • taken up by basal ganglia and sub cortical nuclei
  • neurological injury
  • > impairs mitochondrial function
  • spectrum of disease affecting
  • > visuocortical pathways
  • > sensorineural hearing
  • > proprioception
  • > speech and language

ABE

  • early
  • > lethargy
  • > poor suck
  • > hypotonia/expressionless facies
  • > high pitched cry
  • intermediate
  • > febrile
  • > irritable/jittery
  • > variable tone
  • > high pitched cry
  • advanced
  • > apnoea
  • > seizure
  • > stupor
  • > retrocollis/opisthotonos

CBE

  • kernicterus
  • > pathological hallmark
  • > yellowing of basal ganglia/hippocampus/cerebellum
  • choreoathetoid CP
  • > chorea
  • > ballismus
  • > tremor
  • > dystonia
  • sensorineural hearing loss
  • upward gaze paralysis
  • enamel dysplasia
59
Q

Newborn jaundice investigations

A

Screening in neonate
-transcutaneous >95th centile

Serum bilirubin
-total >95th centile

Direct <1mg/dL or <20% of total

  • FBC
  • > WCC derangement = sepsis
  • > RCC = anaemia
  • > haematocrit = polycythaemia
  • > reticulocyte count = haemolysis
  • > smear = abnormal RBC morphology
  • Coombs test +ive
  • > check maternal/newborn blood compatibility
  • > mother O and newborn A or B
  • > newborn Rh+ and mother Rh-
  • > consider minor blood groups
  • G6PD screening
  • LFTs
  • > normal = criglar bajar/gilberts
  • > abnormal = hepatocellular infection
Direct >1mg/dL or >20% of total
-FBC
->WCC derangement = sepsis
->low WCC/low platelets = portal HTN
-Glucose, bicarb, electrolytes
->deranged in metabolic disorders
-LFTs
-Albumin
Consider
-Ammonia/plasma/urine amino acids
->metabolic screen
-TSH
-Alpha 1 antitrypsin
-urinalysis and urine culture
->source of infection
Imaging
-abdo ultrasound
->abnormal organs/hepatbiliary tract
Still undifferentiated
-Liver biopsy for biliary atresia
60
Q

hx and exam child or newborn with jaundice

A

Presenting complain

  • Age of onset
  • Appetite
  • Vomiting
  • > BO/pyloric stenosis/metabolic disorder
  • Stools
  • > clay colour = cholestasis
  • > delayed = cystic fibrosis/hypothyroidism
  • > diarrhoea= infection/PFIC/metabolic disorder
  • Dark urine
  • Triggers
  • > illness
  • > medications

Antenatal

  • ultrasound
  • > choledochal cysts
  • maternal infections
  • > hepatocellular infection
  • intrahepatic cholestasis of pregnancy
  • > PFIC
  • fatty liver of pregnancy
  • > fatty acid metabolism error

Perinatal

  • Measurements
  • > indicator of severity

Antenatal
-Newborn screening results

Family hx

  • newborn jaundice
  • haemolytic disease
  • liver disease

Dietary hx

  • exposure to milk (galactosaemia)
  • flava beans (G6PD)

Immunization status

  • Hepatitis
  • TORCH
  • Sepsis

Exam

  • General appearance
  • > septic
  • > pallor/plethora
  • > jaundice
  • > scleral icterus (absent in carotenaemia)
  • Skin
  • > bruising/petechiae/haemorrhage/haematoma
  • Facies
  • > syndromic (allagile)
  • Cardiac
  • > CHD = biliary atresia/allagile
  • GI
  • > abdominal wall veins/ascites = portal HTN
  • > hepatomegaly = cholestasis
  • > splenomegaly = portal HTN/haemolysis
61
Q

Management newborn jaundice

A

Unconjugated

  • feeding/hydration
  • phototherapy
  • > above 95th centile
  • > keep hydrated and cover eyes
  • > increased risk of epilepsy in males
  • exchange transfusion
  • > bilirubin >25mg/dL
  • > signs of ABE
  • > refractory to phototherapy
  • > serious underlying aetiology
  • albumin infusion
  • > consider during exchange transfusion
  • IVIg
  • > isoimmune haemolytic disease

Conjugated

  • phototherapy contraindicated (bronze baby syndrome)
  • exchange transfusions not indicated
  • treatment aetiology specific

Physiological

  • no treatment indicated
  • consider withdrawing from breastfeeding for 24-48hrs
62
Q

NEC background and manifestations

A

Epidemiology

  • almost all cases occur in
  • > early preterm or lower GA
  • > very low birth weight
  • mortality rate is approx 1/3
  • > higher in lower GA

Pathophys

  • immature gut and immune system
  • > ineffective mucosal barrier allows bacterial invasion
  • > slow transit allows bacterial overgrowth
  • > high gastric pH
  • > lower levels protective enzymes and IgA
  • microbial dysbiosis and disruption of mucosal barrier
  • > antibiotics
  • > non-human milk and formula
  • > hyperosmolar medications
  • > H2 antagonists
  • > circulatory compromise
  • > severe anaemia
  • exaggerated innate immune response to stimuli
  • > inflammation
  • > apoptosis, infarction and necrosis of bowel

Clinical manifestations

  • approx 2-3 weeks
  • > presents earlier with later GA
  • abdo
  • > distension
  • > tenderness
  • > bilious vomiting/gastric aspirate
  • > decreased feeding tolerance
  • > diarrhoea/haematochezia
  • non specific
  • > lethargy
  • > apnea
  • > resp distress
  • > temperature instability
  • > bacteraemia
63
Q

NEC investigations and management

A

Investigations

  • FBC
  • > neutropenia
  • > thrombocytopenia
  • lactate and pH
  • > metabolic acidosis
  • electrolytes
  • > hyponatraemia
  • sepsis screen
  • > blood cultures
  • > CF cultures
  • abdo xray (insensitive)
  • > dilated loops of bowel = ileus
  • > pneumatosus intestinalis = gas in bowel wall
  • > pneumoperitoneum = perforation
  • > portal venous gas = bacterial gas

Medical management

  • supportive care
  • > bowel rest for 2 weeks
  • > gastric decompression
  • > TPN and fluid replacement
  • broad spectrum antibiotics
  • > amoxicillin, gentamycin, metronidazole
  • > 2 week course
  • serial monitoring
  • > physical exam
  • > lab investigations
  • > abdo xrays

Surgical management

  • indications
  • > perforation
  • > high risk of perforation
  • procedures
  • > bedside primary peritoneal drainage
  • > laparotomy w bowel resection and stoma
64
Q

Down syndrome background

A

Epidemiology

  • incidence increases with maternal age
  • > 1/300 @35
  • > 1/100 @40
  • risk factors
  • > maternal age

Aetiology

  • genetic abnormality
  • > almost of all have extra chromosome 21
  • > some have balanced translocations
  • > rarely mosaic
  • heretability
  • > usually occurs as denovo error
  • > risk is increased in subsequent pregnancies

Pathophys
-majority non dysfunction error during meiosis of oocyte

65
Q

Down syndrome manifestations

A

Newborn exam (FIFTH SUNBEAM)

  • > fifth middle phalanx shortened
  • > iliac wings hypoplastic
  • > flexible joints
  • > transverse palmar crease
  • > sandal gap
  • > up slanting palbebral fissures
  • > neck skin
  • > brachycephaly
  • > epicanthal folds
  • > abnormal auricles
  • > moro absent

Other manifestations and complications

  • fetal demise in approx 30% after definitive testing
  • ID
  • > almost all, to varying degrees
  • > most expressive language deficit
  • Development
  • > gross motor takes approximately twice as long
  • > delay in other domains
  • Growth
  • > low weight, height, HC
  • > early and blunted pubertal growth spurt
  • > obesity common
  • Psychiatric
  • > depression and anxiety
  • > ADHD
  • > alzheimers
  • Neck
  • > atlantoaxial instability
  • Eyes
  • > congenital cataracts
  • > strabismus/nystagmus
  • Ears
  • > hearing loss due to otitis media
  • Cardioresp
  • > congenital heart disease (mainly septal defects)
  • > pulmonary HTN
  • > sleep apnea
  • GI
  • > duodenal atresia
  • > hirschprungs
  • Endocrine
  • > diabetes
  • > thyroid disease
  • Haematological
  • > newborn polycythaemia
  • > transient myeloproliferative disorder
  • > ALL
  • Fertility
  • > most women fertile
  • > most males infertile
66
Q

Turners syndrome overview

A

Epidemiology
-1/5,000

Aetiology

  • almost always sporadic
  • 45, X (most common)
  • > entire X chromosome missing (monosomy X)
  • > sex chromosome non disjunction during meiosis
  • > oocyte combines with sperm missing x chromosome
  • 45, X mosaicism
  • > error following conception (non disjunction in mitosis)
  • > 45 X + 46 XX (47 cell line dies off)
  • X chromosome abnormalities (+/- mosaicism)
  • > various deletions and anomalies

Pathophys

  • genes on tips of X chromosome account for syndrome
  • > single copy SHOX = short stature
  • > haploinsufficiency of X genes = ovarian failure
  • > qX abnormalities = cardiac disease

Clinical manifestations

  • Neonate (10%)
  • > severe CCD
  • > congenital abnormality of kidney (horseshoe)
  • Childhood (20%)
  • > lymphoedema of hands and feet
  • > neck webbing
  • > shield chest (wide spaced nipples)
  • > short stature
  • Puberty (majority)
  • > primary amenorrhoea
  • > ovarian failure with delayed pubarche
  • > madelung deformity of wrist
  • > cubitus valgus
  • > cardiac disease (aortic valve/dissection)
  • > thyroid/liver/HTN/hearing

Investigations

  • Diagnosis
  • > peripheral white cell karyotype
  • Additional
  • > xray for bone age
  • > FSH and AMH (low levels support ovarian failure)
  • > ultrasound (ovarian streak morphology)
  • > conductive/sensorineural hearing loss
  • > renal ultrasound + EUCs
  • > cardiac MRI/MRA
  • Complications screen
  • > TSH = autoimmune thyroid disease
  • > LFTs = turners hepatitis
  • > glucose = diabetes
  • > lipids = dyslipidaemia
  • > coeliac screen

Management

  • investigate and manage cardiac risk
  • recombinant growth hormone for short stature
  • low dose estrogen therapy at 11-12yrs for hypogonadism
67
Q

Edward and patau syndrome overview

A

Epidemiology

  • edward = 1/5000
  • patau = 1/15,000

Aetiology

  • edward = trisomy 18
  • patau = trisomy 13

Pathophys for both

  • meiosis non dysfunction
  • unblanaced robertsonian translocation
  • mosaicism

Key manifestations

  • edward
  • > heart defects
  • > oesophageal atresia
  • > polyhydramnios
  • > horseshoe kidney
  • > bronchopulmonary dysplasia
  • > ID
  • patau
  • > holoprosencephaly
  • > heart defects
  • > polycystic kidneys
  • > meningomyelocele

Prognosis for both

  • > majority die in utero
  • > majority of infants die in first 2 weeks
  • > 5-10% live to first year
  • > severe ID and failure to thrive