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
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
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
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
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
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
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
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
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
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
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
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
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
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
15
Q
benign skin findings in newborn
A
- Acrocyanosis
- blue hands and feet - Erythema toxicum
- small white papules on erythematous base
- usually on trunk
- never soles or palms - Transient pustular melanosis
- generalised pustules
- no base
- pustules leave temporary hyperpigmented macules
- occurs transiently in some african newborns - Miliae
- white papules on nose and cheeks
- retention of keratin and sebaceous fluid in pilosebaceous gland - Salmon patches (naevus simplex)
- pink/red patches
- eyelid, upper lip, forehead, nape of neck
- capillary malformation - Mongolian spots
- blue/green/brown macules
- delayed disappearance of dermal melanocytes - Infantile haemangiomas
- differentiate from congenital
- can occlude airway/be part of syndrome
- proliferate then involute - Jaundice
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
17
Q
Normal posture in newborn
A
- Head in midline
- Limbs:
<28 weeks = extension of limbs
>32 weeks = flexion at knees
>38 weeks = all limbs flexed
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
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
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
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
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
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
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
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
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
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
