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1
Q

hallmarks of autism

A
  • language/communication impairment
  • social impairment
  • ritualistic and compulsive behaviours
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2
Q

hallmarks of ADHD

A
  • inattention
  • impulsivity
  • hyperactivity
    affecting daily function (as all children will show these behaviours on occasion)
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3
Q

treatment of ADHD

A
  • supportive + education
  • methylphenidate (last resort, only in 5+yrs)
    > monitor height + weight in children every 6 months to check for stunted growth
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4
Q

conditions associated with autism

A
  • ADHD
  • OCD
  • developmental disorders + prematurity
  • epilepsy
  • fragile X
  • tuberous sclerosis
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5
Q

conditions associated with ADHD

A
  • prematurity
  • fetal alcohol syndrome
  • NF1
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6
Q

causes of pneumonia in neonates

A
  • GBS

- gram neg, eg. e coli, klebsiella

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7
Q

causes of pneumonia in infants/young children

A
  • RSV
  • strep pneum
  • haemophilus influenzae
  • staph aureus
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8
Q

causes of pneumonia in older children/adolescents

A
  • strep pneum
  • mycoplasma pneum
  • staph aureus
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9
Q

causes of meningitis in neonates

A
  • GBS
  • gram neg (eg. klebsiella, e. coli)
  • listeria monocytogenes
  • HSV
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10
Q

causes of meningitis in infants/children/adolescents

A
  • neisseria meningitidis
  • strep pneum
  • haemophilus influenzae
  • HSV
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11
Q

management of meningitis

A
  • supportive
  • primary care = benzylpen and urgent hospital
  • in children <3 months = cefotaxime (+ amoxicillin to cover listeria)
  • in children >3 months = ceftriaxone (+ steroids may prevent complications)
  • public health notification
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12
Q

causes of bronchiolitis

A
  • RSV
  • mycoplasma
  • adenovirus
    more dangerous in children with CF/congen HD/prematurity
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13
Q

features of bronchiolitis

A
  • coryza
  • dry cough
  • SOB
  • feeding problems
  • low grade fever
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14
Q

mx of bronchiolitis

A
  • supportive
    if severe = ICU for CPAP
    possibility of secondary bacterial infection
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15
Q

causes of croup and epiglottitis

A 
croup = parainfluenza virus
epiglottitis = HiB
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16
Q

features of croup

A

6mo-3yrs

  • audible stridor
  • barking cough (worse at night)
  • fever
  • coryza
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17
Q

croup management

A

hospital if mod/sev croup, <6 mo or known URT abnormality

  • supportive
  • PO dexamethasone (regardless of severity)
  • high flow O2 and neblised adrenaline in mod/sev
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18
Q

features of epiglottitis

A
  • rapid onset
  • toxic child
  • stridor
  • drooling
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19
Q

mx of epiglottitis

A

DON’T INVESTIGATE THROAT/CAUSE CHILD DISTRESS

  • humidified O2
  • nebulised noradrenaline
  • IV Abx (cefotax/ceftriax) once airway secured
  • paediatriac ENT consult
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20
Q

risk of long term ICS use

A
  • adrenal suppression

- growth suppression (but does not affect adult height)

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21
Q

features of CF

A 
newborn
- meconeum ileus
- prolonged jaundice
then
- recurrent chest infections
- malabsorption (steatorrhoea/failure to thrive)
- DM
- liver disease
- stunted growth
- delayed growth/infertility
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22
Q

otitis media causative organisms

A 
viral
- RSV
- rhinovirus
bac
- strep pneum
- haemophilus influenzae
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23
Q

laryngomalacia features

A
  • stridor due to soft larynx
  • more pronounced on feeding + exertion
  • worse on lying down
  • recessions/work of breathing
  • omega sign on nasendoscopy of epiglottis
    normally self-limiting, if severe = surgery
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24
Q

atrial septal defect features

A
  • split S2

- ejection systolic murmur in pul region

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25
Q

ventricular septal defect features

A
  • poor feeding
  • tachypnoea
  • pansystolic murmur at LLSE
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26
Q

patent ductus arteriosus features

A
  • poor feeding
  • tachypnoea
  • continuous machinery murmur
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27
Q

coarctation of aorta features

A
  • weak/absent femoral pulses compared to brachial
  • ejection systolic murmur
  • surgery required
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28
Q

pulmonary stenosis features

A

ejection systolic murmur in pul region and radiates to back

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29
Q

tetralogy of fallot

A

1) . pulmonary stenosis
2) . VSD
3) . RV hypertrophy
4) . overriding aorta
- cyanosis
- acidosis
- collapse/death

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30
Q

ebstein abnormality

A

low insertion of tricuspid, leading to large RA and small RV

  • link to in-utero lithium
  • tricuspid regurg
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31
Q

classification of hearing loss

A
  • mild = 20-40dB loss = hears a convo in quiet room without background noise
  • mod = 41-70dB loss = hearing aids allow to hear convo in quiet room without background noise
  • sev = 71-95dB loss = hearing aids required to hear convo in quiet room with no background noise
  • profound = 96dB+ loss = hearing aids/cochlear implants but would need support with background noise
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32
Q

West syndrome features

A

triad of

  • seizure activity
  • hypsarrhythmia on EEG
  • developmental delay/mental retardation
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33
Q

Lennox-Gastaut features

A 
mix of seizure types, commonly:
- atypical absences 
- drop attacks (astatic)
- tonic seizures
usually have mod/sev developmental/mental handicap
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34
Q

Lennox-Gastaut Mx

A

poor prognosis

  • supportive
  • antiepileptics rarely provide benefit
  • ketogenic diet linked with benefit
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35
Q

features of benign rolandic epilepsy/childhood epilepsy with centro-temporal waves

A

most common childhood epilepsy
- usually outgrown by puberty
- NO developmental delay
- focal seizures
> paraesthesia of area of face typically when waking up (may affect face/lips/throat/tongue and is described as “tingly/fuzzy/bubbly”)
> may experience focal stiffness/twitching

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36
Q

management of benign rolandic/childhood epilepsy with centro-temporal waves

A

usually no treatment required as it is self-limiting + not dangerous
if troublesome, can start on carbamazepine (as is focal)

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37
Q

features of juvenile myoclonic epilepsy/Janz syndrome

A

onset in teenage years

  • infrequent generalised seizures (often in morning)
  • daytime absences
  • sudden myoclonic seizures
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38
Q

Mx of juvenile myoclonic epilepsy/Janz syndrome

A

sodium valproate (as is generalised)

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39
Q

seizures in neonates

A
  • benign neonatal convulsions

- pyridoxine deficiency (give vit B6)

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40
Q

Mx for amblyopia (lazy eye)

A
  • refractive adaptation with glasses
  • occlusion of better eye with patch
  • atropine drops in better eye
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41
Q

Mx for strabismus

A
  • surgery
  • refractive adaptation with glasses
  • occlusion of better eye with patch
  • atropine drops in better eye
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42
Q

examples of autosomal dominant conditions

A
  • polycystic kidney disease (ADPKD)
  • Marfan’s syndrome
  • Huntington’s disease
  • BRCA1/2
  • tuberous sclerosis
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43
Q

examples of autosomal recessive conditions

A
  • CF
  • sickle cell
  • haemochromatosis
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44
Q

examples of X linked

A
  • Duchenne’s/Becker’s muscular dystrophy
  • Fragile X
  • red-green colour blindness
  • haemophilia A/B
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45
Q

examples of mitochondrial inheritance conditions

A
  • MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)
  • MERRF (myoclonic epilepsy, ragged red fibres)
  • mitochondrially-inherited DM and deafness
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46
Q

genomic imprinting examples

A
  • Angelmans syndrome

- Prader-willi

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47
Q

Angelmans syndrome

A

due to deletion on chromo 15 (maternal)

  • microencephaly + mental retardation
  • unprovoked laughing/clapping (happy puppet)
  • seizures
  • gait ataxia
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48
Q

Prader-Willi syndrome

A

deletion on chromo 15 (paternal)

  • neonatal hypotonia
  • poor feeding
  • moderate mental retardation
  • hyperphagia + obesity
  • small genitalia + infertility
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49
Q

Turner’s syndrome

A

45, XO

  • short stature
  • webbed neck
  • primary amenorrhoea
  • link to autoimmune conditions, especially hypothyroid later in life
  • horseshoe kidney
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50
Q

Williams syndrome

A
  • elf-like features facially
  • friendly + social affect
  • learning difficulties
  • short stature
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51
Q

Patau’s syndrome

A 
trisomy 13
- microcephaly
- small eyes
- cleft lip/palate
- polydactyly
poor prognosis
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52
Q

Edward’s syndrome

A 
trisomy 18
- micrognathia (small jaw)
- low set ears
- rocker bottom feet
poor prognosis
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53
Q

Down’s syndrome

A

trisomy 21

  • flat and round face with protruding tongue
  • single palmar crease
  • sandal gap in feet
  • congenital heart defects in 50%
  • subfertility
  • recurrent chest infections
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54
Q

Klinefelter’s syndrome

A

47, XXY

  • tall stature
  • lack of secondary sex characteristics
  • small testes
  • infertile
  • gynaecomastia
  • increased gonadotrophin but decreased testosterone
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55
Q

kawasaki disease features

A

vasculitic condition

  • high grade fever (>5 days)
  • conjunctival injection
  • red cracked lips
  • strawberry tongue
  • cervical lymphadenopathy
  • red palms and soles of feet, which peel
56
Q

management of kawasaki

A
  • high dose aspirin (usually avoided due to Reye’s syndrome risk)
  • IV immunoglobulin
  • monitor heart with echocardiogram for coronary aneurysms
57
Q

measles features

A

caused by RNA paramyxovirus

  • CCCK (cough, coryza, conjunctivitis, koplik spots)
  • fever
  • rash - starting behind ears
58
Q

chickenpox features

A

primary VZV infection

  • fever
  • itchy rash (macular then papular then vesicular), starting on head/trunk
  • mild systemic illness
59
Q

management of chickenpox

A
  • supportive
  • trim nails
  • calamine lotion
  • VZV immunoglobulin in immunocompromised/neonates (IV aciclovir if develop symptoms)
60
Q

features of rubella

A 
togavirus 
- fever
- rash starting on face
- lymphadenopathy
harmful in utero
61
Q

features of diphtheria

A

corynebacterium diphtheriae, spread by droplets

  • thick white coating at back of throat
  • fever
  • dysphagia and sore throat
  • lymphadenopathy
62
Q

mx of diphtheria

A
  • supportive
  • Abx - IM penicillin
  • diphtheria anti-toxin in severe cases
  • notify PHE
63
Q

features of scalded skin syndrome

A

staph aureus toxin causes exfoliative lesions

  • patchy, painful, exfoliative rash
  • fever
  • toxic child
64
Q

mx of scalded skin syndrome

A
  • hospitalisation for IV flucloxacillin (clindamycin if allergy)
  • supportive (hydration/cleaning)
  • pain relief
  • moisturising emolients
65
Q

features of whooping cough

A 
bordatella pertussis
- coryza in prodrome
- coughing bouts
    > worse at night
    > worse after feeding
    > inspiratory whoop
- spells of apnoea
lasts 10-14 WEEKS
66
Q

Mx of whooping cough

A
  • <6 mo admitted to hospital
  • PO clarithromycin (household contacts offered prophylaxis)
  • notify PHE
67
Q

features of erythema infectiosum (slapped cheek syndrome)

A

parvovirus B19 spread by droplets

  • fever
  • slapped cheek rash, spreads to proximal arms and extensor surfaces
  • may return after hot bath/fever/hot weather
68
Q

features of scarlet fever

A

strep pyogenes toxin spread by droplets

  • shortlived fever (1-2 days)
  • strawberry tongue
  • N+V
  • sore throat
  • rough, punctuate rash starting on torso, spreading to arms and legs
69
Q

Mx of scarlet fever

A
  • supportive
  • PO penicillin V (10 days) - school exclusion until 24hrs after commencement
  • notify PHE
70
Q

features of hand foot and mouth disease

A

coxsackie A16 virus

  • self-limiting
  • fever
  • sore throat
  • oral ulcers
  • palm/sole vesicles follow ulcers
71
Q

impetigo features

A

skin infection due to staph aureus/strep pyogenes, either primary or secondary to skin condition, eg. eczema

  • typically face, limbs, flexion points
  • golden crusted skin lesions
  • very contagious
72
Q

Mx of impetigo

A
  • hydrogen peroxide 1% cream
  • PO flucloxacillin in extensive disease
    school exclusion until lesions crusted/48hrs after Abx started
73
Q

nappy rash causes

A

irritant dermatitis = treat with mild steroid cream
- crease sparing
candida dermatitis = treat with topical clotrimazole
- involves creases

74
Q

fluids maintenance (non-neonates)

A

Maintenance:

  1. 9% NaCl + 5% glucose (+/-KCl)
    - first 10kg = 100ml
    - next 10kg = 50ml
    - further kgs = 20ml/kg
75
Q

neonates fluid maintenance

A 
day 1 = 60ml/kg/day
day 2 = 90ml/kg/day
day 3 = 120ml/kg/day
day 4 = 150ml/kg/day
10% glucose
76
Q

fluid deficit calcs

A

% deficit x 10 x weight = deficit fluids in ml/kg/day

77
Q

weight estimation by age

A

(age + 4) x 2 = weight in kg

78
Q

bolus values

A

normally a bolus of 20ml/kg, reduced to 10ml/kg in:

  • trauma
  • DKA
79
Q

alport’s syndrome

A

X linked

  • haematuria
  • progressive renal failure
  • bilateral sensorineural deafness
  • lenticonus
80
Q

vesicoureteric reflux

A

abnormal backflow of urine from the bladder into the ureter and kidney

  • predisposes to urinary tract infection
  • diagnosis with micturating cystourethrogram
81
Q

RFs for GORD

A
  • prematurity
  • neuro impairment
  • oesophageal atresia/pyloric stenosis/diaphragmatic hernia
  • CF
82
Q

symptoms of GORD (INFANT)

A
  • excess posseting/regurg
  • difficulty feeding
  • difficulty lying flat/sleeping
  • dyspnoea
83
Q

symptoms of GORD (CHILD)

A
  • recurrent vomiting
  • dysphagia/refusing food
  • chest/abdo burning pain
  • nocturnal cough/wheeze
84
Q

mx of GORD

A
  • calculate feed requirements - 150 mL/kg body weight over 24 hours (rule out overfeeding)
  • reassurance
    > thicken feed in bottle-fed babies
    > add gaviscon in breast-fed
85
Q

cow’s milk protein allergy features

A
  • vomiting
  • diarrhoea
  • chronic cough/wheeze
  • colic
  • urticaria
86
Q

mx for cow’s milk protein allergy

A

formula-fed:
- extensive hydrolysed formula milk (eHF)
- amino acid-based formula if no response/severe
breast-fed:
- cut CMP out of maternal diet and continue breast feeding
- eHF when breast-feeding stopped

87
Q

pyloric stenosis features

A
  • projectile vomiting ~30 mins after feed
  • constipation (may be palpable abdo mass)
  • hypokalaemic and hypochloraemic alkalosis (due to vomiting)
88
Q

mx of pyloric stenosis

A
  • ABCDE

- Ramstedt pyloromyotomy

89
Q

acute appendicitis features

A
  • central abdo pain moves to R iliac fossa
    > pain typically worse on coughing/R leg hop
  • minimal vomiting
  • low grade fever
90
Q

intussusception features

A

telescoping of bowel, typically at ileocecal junction

  • paroxysmal colic pain (draws legs up)
  • diarrhoea (red currant jelly due to blood)
  • vomiting
  • ‘target’ mass on USS
91
Q

mx of intussusception

A
  • air insufflation

- surgery if unsuccessful/peritonitis

92
Q

hirschsprung’s disease pathophysiology

A

developmental disorder causing absence of ganglion cells in a portion of bowel
> leads to fixed contraction and no peristalsis in that portion

93
Q

features of hirschsprung’s disease

A 
neonate
- delayed meconium (>48hrs)
child
- constipation
- abdo distension
94
Q

diagnosis of hirschsprung’s

A
  • PR exam causes bowel movement
  • rectal biopsy
  • AXR showing functional obstruction
95
Q

mx of hirschsprung’s

A
  • removal of the section of aganglionic colon
96
Q

oesophageal atresia features

A
  • frothy white bubbles in mouth
  • dysphagia + vomiting
  • distended abdomen
    association with tracheo-oesophageal fistula + VACTERL
97
Q

biliary atresia features

A

blockage/developmental disorder of bile duct leads to liver fibrosis

  • jaundice (obstructive)
  • pale stool + dark urine
  • hepatomegaly
98
Q

mx for biliary atresia

A

surgery - Kasai procedure

- ursodeoxycholic acid for symptom relief

99
Q

necrotising enterocolitis features

A

necrosis of bowel typically affecting pre-term infants due to underdeveloped gut

  • bloody stools
  • abdo distension
  • perforation/peritonitis if untreated
100
Q

diagnosis of necrotising enterocolitis

A

history suggestive if preterm
- abdominal XR
> dilated bowel loops
> bowel wall oedema
> intramural gas
> Rigler sign = air inside and outside of intestine
> football sign = air outlining the falciform ligament

101
Q

necrotising enterocolitis mx

A
  • gut rest (parenteral nutrition + IV fluids)
  • IV cefotaxime + metronidazole
  • laparotomy if perforation
102
Q

meckel’s diverticulum

A

pouch on small intestine formed from stomach or pancreas tissue - secretes acid/enzymes
- may lead to appendicitis-like pain, GI bleed or obstruction

103
Q

features of volvulus

A
  • constipation/diarrhoea
  • blood in stool
  • abdo distension
  • bilious vomiting
104
Q

neonatal hepatitis syndrome features

A 
1-2 mo age
~20% due to virus (CMV/HSV/hep A/B/C)
- jaundice
- failure to thrive
- hepatosplenomegaly
105
Q

wilms’ tumour/nephroblastoma features

A

children < 5 yrs commonly, v good prognosis

  • abdo mass
  • painless haematuria
  • flank pain
  • fever
  • decreased appetite
106
Q

neuroblastoma features

A

tumour from neural crest tissue of adrenal medulla + symp NS - usually onset at ~20 months age

  • abdo mass
  • weight loss
  • fatigue
  • bone pain
  • CNS symptoms if obstructing nerve
107
Q

diagnosis of neuroblastoma

A
  • high urinary vanillylmandelic acid (VMA)
  • high urinary homovanillic acid (HVA)
  • biopsy
  • calcification on x ray
108
Q

retinoblastoma features

A

avg age diagnosis = 18mo, autosomal dominant link

  • absence of red reflex (leukocoria)
  • strabismus
  • visual problems
109
Q

retinoblastoma mx

A

depends on how advanced: good prognosis

  • photocoagulation
  • external beam radiation therapy
  • chemo
  • enucleation
110
Q

causes of paediatric osteoporosis

A 
congenital
- osteogenesis imperfecta
- haematological
acquired
- drug induced (steroids)
- malabsorption
- endocrinopathy
- immobilisation
111
Q

osteogenesis imperfecta features

A 
90% cases = auto dom (type 1 collagen)
- bone fractures/deformities
- bone pain
- ligament hypermobility
- poor growth
B = bones
I = eyes
T = teeth
E = ears
112
Q

classification of osteo imperfecta

A

Sillence classification

1) mild
2) LETHAL
3) progressively deforming/severe
4) moderate

113
Q

mx of osteo imperfecta

A

prevent fractures + deformities

  • bisphosphonates
  • surgery: bone screws/rods
  • physio
  • assistive devices
114
Q

juvenile idiopathic arthritis features

A

arthritis in <16 yrs lasting >6 weeks

  • painful/stiff/swollen joints
  • recurrent fever
  • limp without injury
115
Q

oligoarticular JIA

A

most common type of JIA

  • 4 or fewer joints involved
  • typically knees, ankles, wrists + hands/feet bones
  • related to uveitis
  • usually self limiting - leaving NO/LITTLE joint damage
116
Q

polyarticular JIA

A
  • > 4 joints affected
  • typically affects any peripheral joints and hips, neck/jaw
  • recurrent fevers and fatigue
  • may go into remission or continue into adulthood
117
Q

systemic-onset JIA

A
  • lymphadenopathy
  • joint pain/swelling
  • rash
  • fever
  • hard to predict prognosis but often settles with time
118
Q

mx of JIA

A
  • NSAIDs
  • DMARDs
  • biologics - tocilizumab/etanercept
  • intra-articular prednisolone
119
Q

RFs for developmental dysplasia of hip

A
  • female
  • breech
  • family history
  • oligohydramnios
  • macrosomia
120
Q

examination of developmental dysplasia of hip

A 
Barlow test
- attempt to dislocate femoral head
Ortolani
- attempt to relocate 
USS confirms diagnosis
121
Q

mx of dev dysplasia of hip

A

most stabilise spontaneously by 3-6 wks

  • Pavlik harness in children <5mo
  • surgery if >5mo
122
Q

perthes disease features

A

femoral head avascular necrosis

  • 4-8yrs
  • gradual onset hip pain (groin/thigh/knee) lasting >4 wks
  • limp/antalgic gait
  • decreased hip ROM
123
Q

mx of Perthes disease

A

self limiting commonly

  • follow up
  • physio/aids
  • pain relief
  • surgery if >50% femoral head necrosed = increased risk of degenerative arthritis
124
Q

slipped upper femoral epiphysis

A

fracture through growth plate

  • typically obese males
  • knee/thigh/hip pain - may precede fracture
  • limited INT ROT, ABD of hip
  • limp/antalgic
125
Q

causes of precocious puberty (male)

A

usually organic cause in males

  • with bilateral testicle enlargement = intracranial lesion releasing gonadotrophin
  • with unilateral enlargement = gonadal tumour
  • with small testes = adrenal hyperplasia
126
Q

androgen insensitivity syndrome

A

X linked - end organ testosterone resistance causes 46XY to present phenotypically female

  • primary amenorrhoea
  • groin swellings = undescended testes
  • breast development may occur due to testosterone converting to oestradiol
127
Q

congenital adrenal hyperplasia features

A

decreased cortisol = high ACTH from ant pituitary
For 21-hydroxylase deficiency:
- virilised female infant
- precocious puberty in males
- salt-losing crisis in some aged 1-3wks due to low aldosterone, give fludrocortisone

128
Q

mx of congen adrenal hyperplasia

A
  • supportive for fluids/electrolytes
  • supplement:
    > hydrocortisone
    > fludrocortisone
129
Q

erythroblastosis fetalis (haemolytic disease of the newborn) features

A

Rh- mother who has previously had Rh+ exposure, antibodies to Rh+ travel to fetus and lyse fetal RBCs

  • severe newborn anaemia
  • jaundice
  • fetal hepatosplenomegaly
130
Q

sickle cell anaemia features

A 
auto recessive HbS chain
symptoms at 4-6 mo as HbF is taken over
- anaemia symptoms, eg. fatigue/SOB
- infection risk
- splenomegaly
- sickle crisis
131
Q

mx sickle crisis

A

supportive

  • analgesia
  • O2
  • abx if infection
132
Q

glucose-6-phosphate dehydrogenase deficiency

A

X linked recessive (males)
RBC enzyme defect = oxidative stress of RBC
- crisis brought on by drugs/infections/broad beans
- neonatal jaundice
- gallstones
- splenomegaly
Heinz bodies, bite cells, hemighosts on blood film

133
Q

haemophilia

A

x linked

  • A = factor 8 deficiency
  • B = factor 9 deficiency
134
Q

Osgood-Schlatter disease

A
  • seen in sporty teenagers

- pain, tenderness and lump over the tibial tubercle

135
Q

definition of precocious puberty

A

secondary sexual characteristics before 8 years in females and 9 years in males

paeds (1 decks)

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