Paeds Flashcards
what are 3 characteristic signs of pneumonia on examination?
bronchial breath sounds
focal coarse crackles
dullness to percussion
what is the most common cause of pneumonia in children?
streptococcus pneumonia
what is the most common viral cause of pneumonia?
respiratory syncytial virus (RSV)
what is the typical x-ray finding in s. aureus pneumonia?
pneumatocoeles (round air filled cavities) and multilobe consolidation
what are 2 bacteria that are more likely to cause pneumonia in pre/un-vacinated children?
GBS
Haemophilus influenza
which bacterial pneumonia can cause extrapulmonary manifestations and what are they?
Mycoplasma pneumonia
Can cause erythema multiforme
what is the management of pneumonia?
1st - amoxicillin
+/- macrolide (erythro, clarithro, azithro) for atypicals or allergy
what is the name of the condition where people cannot convert IgM to IgG so cannot form long term immunity?
immunoglobulin class-switch recombination deficiency
VACCINES DONT WORK!
what age group is typically affected by croup?
6 months - 2years
what is the pathophysiology of croup?
upper resp tract Ix causing oedema of the larynx
what is the most common pathogenic cause of croup?
parainfluenza virus
what are 2 key features of croup caused by parainfluenza virus?
improves in <48 hours
responds well to dexamethasone
what are 3 other common pathogenic causes of croup
influenza
adenovirus
RSV
what is a possible cause of croup especially in pre/unvaxinated children?
diphtheria - leads to epiglottitis!!! high mortality!
what are 5 symptoms of croup?
increased work of breathing
barking cough in clusters
hoarse voice
stridor
low grade fever
what is the treatment for croup?
supportive
oral dexamethasone - single dose 150 mcg/Kg (can repeat at 12 hours)
what is the stepwise management of severe croup?
oral dexamethasone
O2
Neb budesonide
Neb adrenaline
Intubation and ventilation
what can be seen on x-ray in croup?
Steeple sign - tracheal narrowing
what age is virally induced wheeze typical in?
<3 years
what is the pathophysiology of viral induced wheeze?
viral infection causes inflammation and oedema which reduces space for air flow in a greater proportion due to small size of child’s airways- Poiseuilles law
what is the management of viral induced wheeze?
same as acute asthma
what kind of wheeze is heard in asthma and viral wheeze?
polyphonic expiratory wheeze throughout
what is moderate asthma?
peak flow >50% predicted
normal speech
otherwise well
what is severe asthma? (6)
peak flow 33-50% predicted
sats <92% (different to adults)
unable to complete sentences/feed
Use of accessory muscles
RR >40 1-5years, >30 5+ years
HR >140 1-5 years, >125 5+ years
what is life threatening asthma?
peak flow <33% predicted
sats <92%
exhaustion and poor resp effort
hypotension
silent chest
cyanosis
altered consciousness/confusion
what is a physical finding on the chest wall in severe chronic asthma?
harrison sulus - indentation in chest wall along 6th rib can be bilateral or unilateral
what is the acute management of asthma/viral wheeze?
Escalating Bronchodilators - Salbutamol, ipratropium bromide, magnesium sulphate, aminophylline
PLUS - Steroids - prednisone (oral) or Hydrocortisone IV
ABx - if suspected
what is the stepwise progression of bronchodilators in acute asthma?
IHR/Neb salbutamol (10 puffs every 2 hours or repeat nebs every 20-30 mins)
IHR/Neb ipratropium bromide
IV magnesium sulphate
IV aminophylline
Back to back nebs = 3 salbutamol then 1 ipratropium
what on spirometry suggests an obstructive picture?
reversibility
FEV1 <80%, FEV1:FVC <0.7
How is asthma investigated in children 5-12 years?
1 - FeNO >35 ppb
2 - bronchodilator reversibility >12% pre-dilation reading or >0% of predicted
3 - PEF 20% variability in reading over 2 weeks
4 - skin prink testing, measing IgE
what is the long term management of asthma age 5-12?
1 - SABA + ICS BD
3 - SABA + ICS + LTRA (leukotriene receptor antagonist - montelukast)
4 - SABA + ICS + LABA (-LTRA)
5 - SABA + MART (low dose ICS)
6 - SABA + moderate dose ICS MART
7 - SABA + high dose ICE OR Additional drug OR Refer
what is the stepwise management of children <5 which chronic asthma?
1 - SABA + 8-12 week trial low dose ICS BD
3 - SABA + low dose ICS + LTRA
4 - Stop LTRA and refer
what is considered paediatric high dose ICS?
> 400 micrograms budesonide or equivalent
what is considered paediatric low dose ICS?
<200 micrograms of budesonide or equivalent
which LABA can be used as a short acting agonist also?
folmeterol
can ICS cause restricted growth?
can reduced adult hight with long term use by up to 1cm . dose dependent effect
what is the most common cause of bronchiolitis?
Respiratory syncytial virus (RSV)
in what age group does bronchiolitis occur?
<1 year, most common <6 months can be up to 2 years
what are 5 risk factors for bronchiolitis?
Underlying respiratory disease
congenital heart defects
seasonal
immunodeficiency
prematurity
what are 8 typical signs of bronchiolitis?
coryzal symptoms - URTI
signs of resp distress
dyspnoea
tachypnoea
poor feeding
mild fever
apnoea
wheeze and crackles
what are 8 signs of respiratory distress?
raised RR
use of accessory muscles
intercostal and subcostal recession
nasal flaring
head bobbing
tracheal tugging
cyanosis
abnormal airway noise
what is the typical course of RSV bronchiolitis?
coryzal symptoms
chest symptoms 1-2 days later
worst day 3-4
symptoms usually last 7-10 days
what are reasons for admission in bronchiolitis?
<3 months, pre-existing conditions
<50-70% of normal milk intake
clinical dehydration
RR >70
O2 <92% OA
resp distress
apnoea
parent not able to manage/access medical help at home
what is the management of bronchiolitis?
ensure adequate intake - NG, IVs
saline nasal drops, nasal suctioning
O2
ventilation support
2 signs of poor ventilation of a cap gas?
rising pCO2
falling pH
what can be given as prevention of RSV infection?
Palivizumab
monthly injection as prevention of bronchiolitis caused by RSV given to high risk babies. Provides passive protection
what are 4 indications for RSV prophylaxis in babies?
Chronic lung disease - requiring O2 post 28 days
Respiratory disease
Congenital heart disease
Severe combined immunodeficiency syndrome
what age does laryngomalacia occur at?
infants peaking at 6 months - inspiratory stridor exacerbated by lying, feeding, upset => no coinciding resp distress
problem resolves as larynx matures - around 1.5 years
what infection typically causes epiglottitis?
Haemophilus influenzae B
what are 8 symptoms of epiglottitis?
sore throat/pain swallowing
stridor
drooling
tripod position
high fever
muffled voice
scared and quiet
septic and unwell
what investigation can be done in suspected epiglottitis?
lateral xray of neck - shows thumb sign or thumbprint sign
excludes foreign body aspiration
what is the management of epiglottitis?
alert senior paediatrician and anaesthetist
nebulised adrenaline - may be used prior to intubation to reduce laryngeal oedema
ABx - cefriaxone
steroids - dexamethasone
what is a complication of epiglottitis?
epiglottic abscess
what is chronic lung disease of prematurity (bronchopulmonary dysplasia)?
typically <28 weeks gestation suffer from resp distress syndrome and require O2 or intubation and ventilation at birth. Diagnosed on CXR when infant required O2 >36 weeks gestational age
what are 5 features of chronic lung disease of prematurity?
low O2 sats
increased work of breathing
poor feeding and weight gain
crackles and wheeze
increased susceptibility to infection
what can reduce risk of chronic lung disease of prematurity?
corticosteroids (betamethasone) in premature labour mothers <36 weeks
CPAP rather than intubation
Caffeine to stimulate resp effort
avoid over-oxygenating
what is the most common pathogen of otitis media?
strep pneumoniae
what is the typical presentation of otitis media?
ear pain
reduced hearing
symptoms of URTI
what is the first line Abx for otitis media?
1 - amoxicillin 5 days
erythro, clarithro
what is glue ear?
otitis media with effusions - middle ear become full of fluid due to a blockage in the eustacion tube causing loss of hearing
what can be seen on otoscopy in glue ear?
dull tympanic membrane with air bubbles or a visible fluid level
can look normal
what is the natural course of glue ear?
usually resolves within 3 months without treatment
how long does it usually take grommets to fall out?
1 year
what are 3 common congenital causes of deafness?
maternal rubella or CMV
genetic deafness
associated syndromes - downs
what are 2 common perinatal causes of deafness?
prematurity
hypoxia during or after birth
what are 4 common post natal causes of deafness?
jaundice
meningitis and encephalitis
otitis media or glue ear
chemo
what is the range of normal hearing on an audiogram?
all readings between 0-20 dB
what are 3 symptoms additional to tonsillitis symptoms that can indicate quinsy?
trismus - unable to open mouth
change in voice (hot potato voice)
swelling and erythema surrounding tonsils
what is the most common pathogen in quinsy?
strep pyogenes (A) and Haemophilus influenzae
what is the management of quinsy?
drainage and Abx (co-amox)
?dex
what is preorbital cellulitis?
infection of upper and lower eyelid which causes red how skin swelling around eyelid and eye - distinguish from orbital cellulitis with CT scan
usually no pain or reduction in eye movements, no change in vision or abnormal pupillary response
what is the management of preorbital cellulitis?
systemic Abx
what is squint also known as?
strabismus - misalignment of the eyes causing double vision
what are 5 causes of squint?
idiopathic
hydrocephalus
cerebral palsy
space occupying lesion
trauma
what are 2 tests for squint?
cover test
herschberg’s test
what is the management of squint?
occlusive patch or atropine drops in good eye
what are the 3 foetal circulation shunts?
ductus venosus
foramen ovalae
ductus arteriosus
what is the ductus venosus?
shunt connecting umbilical vein to inferior vena cava allowing foetal blood to bypass liver
what is the foramen ovale?
shunt connecting R to L atrium which allows blood to bypass R ventricle and pulmonary circulation
what is the ductus arteriosus?
shunt connecting pulmonary artery and aorta which allows blood to bypass the pulmonary circulation
are atrial septal defects cyanotic?
no - unless R sided pressure becomes so great due to pulmonary hypertension the shunt reverses - EISENMENGER SYNDROME
what is eisenmenger syndrome?
when a shunt reverses due to pulmonary HTN causing R sided pressure > L sided pressure leading to pulmonary circulation bypass and cyanosis. develops after 1-2 years with large shunts and in adulthood with small
what are 4 complications of atrial septal defects?
stroke - with DVT - clot bypasses lungs
AF or atrial flutter
Pulmonary hypertension and r sided HF
Eismenger syndrome
what are 3 types of atrial septal defect?
Ostium secondum - septum secondum fails to fully close
patent foramen ovale
ostium primum - septum primum fails to close - tends to causes Av valve defects also
what is the murmur in ASD?
mid systolic crescendo-decrescendo murmur loudest at upper left sternal border with a fixed split second heart sound
what are 5 typical ASD symptoms?
SOB
difficulty feeding
poor eight gain
LRTIs
complications - heart failure, stroke
what is the management of ASD?
Referral to paediatric cardio
Watchful waiting if small
Transvenous catheter closure or open heart surgery
what can be seen on examination in eisenmengers syndrome?
cyanosis
clubbing
dyspnoea
plethoric complection (due to polycythaemia)
what is the management of eisenmengers syndrome?
Heart lung transplant
Management of pulmonary HTN, polycythaemia and thrombosis
what 2 genetic conditions are associated with VSDs?
Downs
Turners
what 3 defects can cause eisenmenger’s syndrome?
ASD
VSD
patent duct arteriosus
what is the murmur is VSD?
pan-systolic more prominent at left lower sternal border in 3/4 intercostal space. May be systolic thrill
what are the 3 causes of pan-systolic murmur?
VSD
mitral regurg
tricuspid regurg
what is the management for VSD?
Watch and wait if small
Surgical repair - transvenous catheter closure or open heart surgery
what are 4 complications of VSD?
Eisenmenger syndrome
Heart failure
endocarditis
pulmonary hypertension
how long does it usually take for the ductus arteriosus to close?
1-3 days to stop functioning, 2-3 weeks to fully close
what kind of shunt is patent duct arteriosus?
left to right - from aorta to pulmonary vessels
what murmur is heard in patent duct arteriosus?
continuous crescendo -decrescendo machinery murmur
what causes an ejection systolic murmur? (3)
aortic stenosis
pulmonary stenosis
hypertrophic obstructive cardiomyopathy
what 2 conditions that cause cyanotic heart disease?
transposition of the great arteries
Tetralogy of fallot
Also Eisenmengers transformation
what 4 conditions are coarctation of the aorta associated with?
turners syndrome
bicuspid aortic valve
berry aneurysm
neurofibromatosis
what is the presentation of coarctation of the aorta?
weak femoral pulses - upper limb BP higher than lower limb - radiofemoral delay
Systolic murmur below left clavicle, may radiate to scapula
tachypnoea
poor feeding
grey, floppy baby
what is the management of coarctation of the aorta?
surgery
in high risk - prostaglandin E to keep ductus arteriosus open till surgery
what cardiac condition causes cyanosis at birth?
transposition of the great arteries
what is transposition of the great arteries?
the attachments of the aorta and pumonary trunk are swapped so R ventricle pumps blood into aorta and L ventricle into pulmonary artery
what is the management of transposition of the great arteries?
prostaglandins E1 - maintain ductus arteriosus
Balloon septostomy - insert balloon catheter into foramen ovale to create largeASD
open heart surgery - arterial switch
what are the 4 pathologies in tetralogy of fallot?
Pulmonary valve stenosis
Right ventricular hypertrophy
Overriding Aorta
VSD
PROVe
what kind of shunt is there in tetralogy of fallot?
left to right - cyanotic
what are 4 risk factors for tetralogy of fallot?
rubella infection
increased age of mother
alcohol in pregnancy
diabetic mother
what investigations can be used for septal defects?
echo + doppler flow studies
what can be seen on chest x-ray in tetralogy of fallot?
boot shaped heart due to right ventricular hypertrophy
what are 6 manifestations of tetralogy of fallot?
cyanosis
clubbing
poor feeding
poor weight gain
ejection systolic murmur loudest in pulmonary area
tet spells
what are tet spells?
seen in tetralogy of fallot where shunt becomes temporarily worse causing cyanotic episode - usually during waking, exertion, crying
what is the management of tet spells?
squatting or pulling knees to chest - increases systemic vascular resistance
O2
beta blockers - relax R ventricle
IV fluids
morphine - decrease resp drive
sodium bicarb - buffer metabolic acidosis
phenylephrine infusion - increase systemic vascular resistance
what is the management of tetralogy of fallot?
Prostaglandin E1 - maintain ductus arteriosus
Beta blockers - may be used for tet spells
total surgical repair at 3-6 months
what is ebstein’s anomaly?
R tricuspid valve lower than normal causing R ventricle to be smaller causing poor flow to pulmonary vessels - usually presents after closing of ductus arteriosus
what 4 conditions are associated with pulmonary valve stenosis?
tetralogy of fallot
william syndrome
noonan syndrome and turners syndrome
congenital rubella syndrome
what is rheumatic fever?
autoimmune condition triggered by antibodies to group A beta-haemolytic strep - typically strep pyogenes causing tonsilitis. The process usually occurs 2-4 weeks after initial infection
what is the presentation of rheumatic fever? (7)
fever
joint pain - migratory of large joints
erythema marginatum rash
shortness of breath
chorea
firm painless nodules
carditis - tachy/brady, murmurs, pericardial rub, heart failure
what are 3 investigations for rheumatic fever?
throat swab and culture
Anti streptococcal antibodies (ASO) titres
ECHO, ECG, CXR
what criteria is used to diagnose rheumatic fever?
jones criteria
what is the jones criteria?
for diagnosing rheumatic fever
TWO of JONES
Joint arthritis
Organ inflammation (carditis)
Nodules
Erythema marginatum rash
Sydenham chorea
OR
One JONES and TWO FEAR
Fever
ECG changes (prolonged PR)
Arthralgia
Raised inflammatory markers
what is the management of rheumatic fever?
Abx - Benzathine benzylpenicilin or phenoxymethylpenicillin
NSAIDs or salicates (joint pain)
Aspirin and steroids - carditis
Heartfailure - Diuretics +/- ACEi
Chorea - carbamazepine
what are 3 complications of rheumatic fever?
recurrence
valvular heart disease - mitral stenosis
chronic heart failure
what are 2 risk factors for GORD in children?
prem delivery
neurological disorders
what are 6 signs of problematic reflux in babies?
chronic cough
hoarse cry
distress after feeding
reluctance to feed
pneumonia
poor weight gain
what advice can be given for GORD in babies?
small frequent meals
burping regularly
not overfeeding
keep baby upright after feeding
what kind of vomiting is present in GORD?
effortless mainly after feeding
What volume should formula fed infants be consuming per day?
150 ml/Kg per day
what 3 treatments can be given in babies with GORD?
1 - breast - technique, positioning, attachment assessment
2 - breast - gaviscon (alginate) trial for 2 weeks at a time
1 - bottle - assess volume of feeds, trial smaller more frequent
2 - bottle - thickened formula
3 - bottle - Gaviscon (alginate)
3/4 - breast/bottle - PPI or H2 antagonist 4 week trial
what is sandifer’s syndrome?
brief episodes of abnormal movements associated with GORD leading to torticollis and dystonia
what is a key feature of pyloric stenosis?
projectile vomiting
when does pyloric stenosis present?
first few weeks (4-6 weeks) of life baby failing to thrive with projectile vomiting 30 mins after feeding
what 3 things can be found on examination of a baby with pyloric stenosis?
observation of stomach peristalsis
firm round ‘olive like’ mass in upper abdomen
hypochloric (low Cl-), hypokalaemia metabolic alkalosis on blood gas
how is pyloric stenosis dianosed?
Abdo USS
what is the management of pyloric stenosis?
laparoscopic pyloromyotomy - Ramstedt’s operation
what are 2 common viral causes of gastroenteritits?
rotavirus
norovirus
which e.coli produces shiga toxin?
E.coli 0157
what does shiga toxin cause?
abdo cramps, bloody diarrhoea, vomiting - can lead to haemolytic uraemic syndrome
what is the most common cause of bacterial gastroenteritis?
campylobacter jejuni
where does campylobacter come from?
raw/improperly cooked poultry
untreated water
unpasteurised milk
what is the treatment of campylobacter?
azithromycin or ciprofloxacin
which bacteria causes gastroenteritis after food has not been refrigerated quickly (rice)?
bacillus cereus - diarrhoea resolving in 24 hours
what is the treatment of Giardiasis?
metronidazole
what are 4 possible complications of gastroenteritis?
lactose intolerance
IBS
reactive arthritis
GBS
what is toddlers diarrhoea?
chronic watery diarrhoea in well <5 year olds which can often be helped by changes in diet
what are the 4fs of toddler’s diets?
fat - shouldnt have low fat diet
Fluid - not sugary drinks, not too much water
Fruit + fruit juice - gut cannot absorb fructose or sorbitol easily
Fibre - 12-18g per day
what is persistent diarrhoea?
> 2 weeks
what is chronic diarrhoea?
> 4 weeks
what is encopresis?
foecal incontinence
at what age does faecal incontinence become pathological?
4 years
what are 6 causes of faecal incontinence?
spina bifida
hirschprungs disease
cerebral palsy
overflow incontinence - stress, abuse
Constipation with overflow
Learning disability
what are 5 lifestyle factors that may contribute to constipation in children?
habitual not opening bowels
low fibre diet
poor fluid intake
sedentary lifestyle
psychosocial problems
what are 8 secondary causes of constipation in children?
hirschprungs disease
CF
Hypothyroid
Spinal cord lesions
sexual abuse
Intestinal obstruction
anal stenosis
cow milk intolerance
what are 8 red flag symptoms of constipation in children?
Failure to pass meconium
neurological signs or symptoms
Vomiting
Ribbon stool
Abnormal anus
Abnormal lower back/buttocks - spina bifida
Failure to thrive
Acute sever abdo pain/bleeding
what is the first line laxative in children?
1 - Macrogol (movicol)
1-11 months - 0.5 sachets
1-5 years - 1 sachet
6-11 years - 2 sachets
MAX 4 sachets
2 - add stimulant laxitive
what is meckel’s divertculum?
malformation of distal ileum present in 2% of population that can bleed, become inflamed, rupture or cause volvutus, intussusception or obstruction
what is the presentation of Meckel’s diverticulum?
abdo pain mimicking appendicitis
Rectal bleeding - most common cause of massive GI bleed in 1-2 year olds
Intestinal obstruction - volvulus and intussusception
what investigations can be used for meckel’s diverticulum?
Meckels scan - technetium-99m pertechnetate
Mesenteric arteriography
what is the management of symptomatic Meckel’s diverticulum?
surgical resection or diverticulectomy
what are the 5 key features of Crohn’s? (mneumonic)
NESTS
No blood or mucus (less than UC)
Entire GI tract
Skip lesions
Terminal ileum most affected + Trans mural
Smoking risk factor
weight loss, strictures, fistulae
what are the 7 key features of UC? (mneumonic)
CLOSEUP
Continuous inflammation
Limited to colon and rectum
Only superficial mucosa
Smoking protective
Excrete blood and mucus
Use aminosalicylates
Primary sclerosing cholangitis
what is one stool test that can be used for IBD but only in adults?
faecal calprotectin
Aged 16-40 years
what is the most common congenital abnormality of the small bowel?
meckel’s diverticulum
when do people usually present with meckel’s diverticulum?
<2 years
what is faltering growth?
fall in weight across:
1+ centiles if birth weight below 9th
2+ centiles if birth weight between 9th-91st
3+ centiles if birth weight 91+ centiles
what are 5 causes of failure to thrive?
inadequate nutritional intake
difficulty feeding
malabsorption
increased energy requirements
inability to process nutrition
what are 5 causes of inadequate nutritional intake in children failing to thrive?
maternal malabsorption if breastfeeding
IDA
family or parental problems
neglect
availability of food
what are 4 causes of difficulty feeding?
poor suck (cerebral palsy)
cleft lip/palate
genetic conditions w/ abnormal face structure
pyloric stenosis
what are 5 causes of malabsorption in children failing to thrive?
CF
coeliac disease
cows milk intolerance
chronic diarrhoea
IBD
what are 4 causes of increased energy requirements in children failing to thrive?
Hyperthroidism
chronic disease - CF, CHD
malignancy
chronic infections - HIV, immunodeficiency
what are 2 causes of inability to process nutrients in children failing to thrive?
inborn errors of metabolism
T2DM
how do you calculate mid-parental height?
average of parents height
what is anthropometry?
in nutritional assessment - includes weight, height mid-upper arm circumference and skinfold thickness
what is Hirschprungs disease?
congenital condition where nerve cells of the myenteric (auerbach’s) plexus are absent causing a lack of peristalsis of the large bowel
what innervation is responsible for motor supply to the bowel?
Auerbach plexus
located between circular and longitudinal muscle layers of gut - responsible for peristalsis - in muscularis propria
what plexus is responsible for innervation of gastric absorption, secretion and blood flow as well as ion and water transport and sensory stimuli?
Meissner’s plexus
In submucosa
what is the key pathopysiology of hirschprungs disease?
absence of parasympathetic ganglion cells in the colon
what are 4 syndrome that can be associated with hirschprung’s?
downs
neurofibromatosis
waardenburg syndrome
multiple endocrine neoplasia type II
what are 5 presentations of hirschprungs disease?
delay in passing meconium
chronic constipation since birth
abdo pain and distention
vomiting
poor weight gain and failure to thrive
what is hirschsprung associated enterocolitis?
inflammation and obstruction of the intestines in 20% of neonates with hirschprungs presenting usually between 2-4 weeks with fever, abdo distension, diarrhoea (w/ blood usually) and features of sepsis
what is the management of hirschsprungs associated enterocolitis?
Abx
fluid resuscitation
decompression of obstruction
how is hirschsprungs disease diagnosed?
rectal biopsy + histology for absence of ganglionic cells
what is the management of hirschsprungs disease?
surgical resection of aganglionic bowel - usually anorectal pull-through
what age group does intussusception occur most commonly in?
6 months - 2 years
more common in boys
what is intussusception?
when the bowel invaginates into itself usually causing bowel obstruction
what 5 conditions are risk factors for intussusception?
concurrant viral illness
henoch-schonlein purpura
CF
intestinal polyps
meckel diverticulum
what are 6 presentations of intussusception?
sever colicky abdo pain
pale, lethargic unwell child
Inconsolable crying
drawing knees up and turning pale
redcurrant jelly stool
sausage shaped RUQ mass
vomiting
intestinal obstruction
what is the first line investigation for intussusception?
US abdo
what can be seen on abdo US in intussusception?
Target like mass
what is the treatment for intussusception?
1 - therapeutic enema (air insufflation) - contrast, water or air
2- surgery
what are 4 complications of intussusception?
obstruction
gangrenous bowel
perforation
death
what are 8 causes of bowel obstruction in children?
meconium ileus
hirschprungs
oesophageal atresia
duodenal atresia
intussusception
imperforate anus
malrotation of the intestines + volvulus
strangulated hernia
what can be seen on abdo xray in obstruction?
proximal dilated bowel loops
distal collapsed bowel loops
absence of air in rectum
what classes as bowel loop dilation in adults?
rule of 3s
small bowl >3cm
Large bowel >6cm
Caecum >9 cm
when does biliary atresia present?
shortly after birth
what is the presentation of biliary atresia?
jaundice a few weeks after birth - CONJUGATED bilirubin
Pale stools and dark urine
irritability
hepatomegaly
Failure to thrive
what kind of bilirubin is high in biliary atresia?
conjugated bilirubin
what is the 1st line investigation for billiary atresia?
conjugated and unconjugated bilirubin
what is classed as persistent jaundice in babies?
> 14 days term babies
21 days premies
what is the management of billiary atresia?
surgery - kasai portoenterostomy
Ursoseoxycholic acid - given post op to promote bile flow
often require full liver transplant
what surgery is used to correct biliary atresia?
Kasai portoenterostomy
what are 3 complications of biliary atresia?
Cholangitis
cirrhosis and liver failure
nutritional deficiencies - unable to absorb fat soluble vitamins
what is henoch-schonlein purpura?
autoimmune small vessel vasculitis usually triggered by URTI which causes inflammation of capilaries leading to purpuric rash typically on lower legs, joint pain and GI symptoms. Can also cause kidney damage due to IgA deposits
what are the 4 classic features of Henoch-schonlein purpura?
purpuric rash on legs
joint pain
GI symptoms
Renal involvement - IgA nephritis
what is the management of henoch-schonlein purpura?
Supportive - analgesia (NSAIDs unless renal injury), rest, hydration
Steroids may be used to shorted duration
moniter urine dip and BP
what are 4 complications of henoch-scholein purpura?
GI bleed or intussuscpetion
AKI or CKD
Scrotal swelling or orchitis
Recurrence
what is an abdominal migraine?
severe central abdo pain >1 hour with normal examination
may also have nausea, vom, anorexia, pallor, headache, photophobia, aura
what is the acute management of abdo migraine?
paracetamol
ibuprofen
sumatriptan
what is the prophylaxis of abdo migraine?
1 - pizotifen - serotonin agonist
propanolol
cyproheptadine - antihistamine
flunarazine - Ca channel blocker
what is gastroschisis?
a birth defect causing abdominal organs to be located outside abdomen due to defect in abdominal wall
Vaginal delivery may be attempted and neonates are taken to theatre within 4 hours of birth
what are 2 examination findings in diaphragmatic hernia?
apex beat displaced to r side of chest
poor air entry in L chest
concave abdomen
what is the management of diaphragmatic hernia?
NG tube suction to prevent intrathoracic bowel distention and surgical repair - high mortality due to underdeveloped lungs in utero
who are umbilical hernias more common in?
children of african descent
Down’s syndrome
mucopolysaccharide storage disease
what age do umbilical hernias usually resolve by?
3 years
what are 2 classes of symptoms of cow milk protein allergy?
GI symptoms - bloating, wind, abdo pain, diarrhoea , vomiting
Allergic symptoms - hives, angio-oedema, cough/wheeze, sneezing, watery eyes, eczema, anaphylaxis
what formula can be used in cow milk protein allergy?
1 - hydrolysed formulas
2 - elemental amino acid formulas
what is one thing that can be prescribed to the breast feeding mother of cows milk protein allergy babies?
Calcium supplements - as they will not be eating dairy and therefore need another source of calcium
what is the difference between cow milk intolerance and allergy?
intolerance has GI symptoms but no allergic symptoms unlike allergy
by what age do children usually grow out of cow’s milk protein allergy?
3 years
what immunoglobulin causes rapid cows milk protein allergy?
IgE
what are choledochal cysts?
congenital cyst dilations of the billary tree more commonly affecting females which have a small risk of malignancy
usually surgically excised
what is the classic triad of choledochal cysts?
abdo pain
jaundice
abdo mass
what is neonatal hepatitis syndrome?
idiopathic prolonged neonatal jaundice and hepatic inflammation which may cause low birth weight and faltering growth
what is the usual presentation of colic?
sudden inconsolable crying/screaming accompanied by drawing knees to chest and passing excessive gas. Typically occurs <3 months, often worse in the evening
when should colic be suspected?
Rule of 3s
more than 3 hours a day
3 days a week
for 3 weeks
otherwise healthy baby
what 2 findings indicate pyelonephritis over uti?
temp >38 degrees
loin pain/tenderness
what is the management for < 3 months with fever?
immediate IV Abx - cefotaxime+ amoxicillin
+ full septic screen
what a full septic screen in <3 months?
bloods - FBC, CRP, cultures, lactate
urine dip
CXR
LP
? cap gas
when should children with UTIs get an USS within 6 weeks?
if first UTI <6 months
recurrent UTIs
atypical UTIs
what investigation can be done for defects in renal tissue and scars after UTI?
DMSA scan (dimercaptosuccinic acid) - injection of radioactive material using gamma camera done 4-6 months after infection
what investigation can be done to visualise urinary anatomy, vesicouteric reflux and urethral obstruction in children <6 months?
micturating cystourethrogram (MCUG)
- catheterise child and inject contrast then take x rays
what is vesico-uteric reflux?
where there is a developmental abnormality of the vesicouteric junction where the ureters are displaced laterally and enter the bladder directly allowing urine to reflux back up ureters and to the kidney causing dilatation and increased risk of infection and scaring
what are the 5 grades of vesicoureteric reflux?
1 - reflux to ureter only
2 - reflux to renal pelvis on micturition
3 - mild/moderate dilation of ureter, renal pelvis, calyces
4 - dilation of renal pelvis and calyces with moderate ureteral tortuosity
5 - gross dilation of ureter, pelvis and calyces with ureteral tortuosity
what is the management of pyelonephritis in children?
Consider referral to paeds at any age and definitely <3 months
1 - Cefalexin PO
3mon to 11 years - 12.5 mg/kg BD 7-10 days
12-15 years - 500mg BD/TDS 7-10 days
OR
Co-Amox PO
3mon-5 years - 0.25ml/kg of 125/31 suspension TDS 7-10 days
IVs - Co-amox, cefuroxime, ceftriaxone, gent, amikacin
what is the management of UTI in children <3 months?
Imediate paeds referral
IV antibiotics (ceftriaxone)
Full septic screen - blood cultures, bloods, lactate, ?LP
what is the management of UTI in children >3 months?
1 - Trimethoprin PO
3mon to 11 years - 4mg/Kg BD for 3 days
12-15 years - 200mg BD 3 days
Nitrofurantoin PO
3 mon-11 years - 750 microg/Kg QDS for 3 days
12-15 years - 50mg QDS 3 days
2 - Nitrofurantoin
Cefalexin PO
3mon-11 years - 12.5mg/kg BD for 3 days
12-15 years - 500mg BD 3 days
what is enuresis?
involuntary urination
by what age do children usually get control of day time bladder function?
2 years
by what age do children usually stop bed wetting?
3-4 years
what are 5 possible causes of primary nocurnal enuresis?
overactive bladder - frequent small volume urination prevents development of bladder capacity
fluid intake prior to bed
failure to wake
psychological distress
secondary causes - chronic constipation, UTI, learning disability, cerebral palsy
what is primary nocturnal enuresis?
wetting the bed having never stopped
at what age does nocturnal enuresis become pathogenic?
5 years
what are 5 causes of primary nocturnal enuresis?
overactive bladder
fluid intake
failure to wake
psychological distress
secondary causes
what is secodnary nocturnal enuresis?
wetting the bed having previously stopped for >6 months
what are 5 causes of secondary nocturnal enuresis?
UTI
constipation
T1DM
psychosocial problems
abuse
what is diurnal enuresis?
day time wetting self
what are 3 management options for nocturnal enuresis?
1 - Eneurisis alarm
2 - desmopressin (taken at bedtime)
3- oxybutinin - anticholinergic
imipramine - tricyclic antidepressant
what age range is nephrotic syndrome most common in?
2-5 years
what is the classical triad of nephrotic syndrome?
low serum albumin
high urine protein (3+ or >3 grams)
oedema
what are 6 signs of nephrotic syndrome?
low serum albumin
high urine protein
oedema
deranged lipid profile
high BP
hyper-coagulability
what is the most common cause of nephrotic syndrome in children?
minimal change disease
what are 4 secondary causes of nephrotic syndromes?
intrinsic kidney disease - focal segmental glomerulosclerosis, mebranoproliferative glomerulonephitis
Henoch schonlein purpura
diabetes
infection - HIV, hepatitis, malaria
what can be seen on urinalysis in minimal change?
small molecular weight proteins and hyaline casts
what is the first line management of minimal change disease?
high dose corticosteroids - prednisolone
what is the management of steroid resistant nephrotic syndrome?
ACEi
immunosupressants - cyclosporine, tacrolimus, rituximab
what is the general management of nephrotic syndromes (5)?
high dose steroids - pred
low salt diet
diuretics
albumin infusion
antibiotic prophylaxis
what are 5 complications of nephrotic syndromes?
hypovolaemia and low BP
thrombosis
infection - kidneys leak immunoglobulins
acute or chronic renal failure
relapse
what is the pathophysiology of nephrotic syndromes?
the basement membrane of the glomerulus becomes highly permeable to proteins allowing them to leak from the blood into the urine
what is the pathophysiology of nephritic syndromes?
inflammation of the nephrons
what are 3 consequences of nephritic syndromes?
reduction in kidney function
haematuria
proteinuria (less than nephrotic)
what are the two most common causes of nephritis in children?
post-streptococcal glomerulonephritis
IgA nephropathy - HSP
what is the pathophysiology of post-streptococcal glomerulonephritis?
1-3 weeks after b-haemolytic strep (strep pyogenes) infection e.g tonsilitis immune complexes get stuck in the glomeruli and cause inflammation leading to AKI
what 2 investigations can be done to test for strep in post-strep glomerulonephritis?
positive throat swab
anti-streptolysin antibody titres
what is the management of nephritis?
supportive mainly
manage complications - IgA may need immunosupression
what is IgA nephropathy a complication of?
Henoch-schonlein purpura (IgA vasculitis)
what is the pathophysiology of IgA nephropathy?
IgA deposits in nephrons cause inflammation
what 2 things can be seen on biopsy in IgA nephropathy?
IgA deposits
Glomerular mesangial proliferation
what age group is usually affected with IgA nephropathy?
teens and young adults
what usually triggers haemolytic uraemic syndrome?
shinga toxin (from e.coli 0157 or shingella)
what is the classical triad of haemolytic uraemic syndrome?
haemolytic anaemia
AKI
thrombocytopenia
what increases the risk of haemolytic uraemic syndrome?
use of antibiotics and loperamide to treat gastroenteritis caused by e.coli0157 or shingella
how long after onset of gastroenteritis do symptoms of haemolytic uraemic syndrome usually start?
5 days
what are 8 presentations of haemolytic uraemic syndrome?
reduced urine output
haematuria or dark brown urine
abdo pain and bloody diarrhoea (due to gastroenteritis)
lethargy and irritablility
confusion
oedema
HTN
bruising
jaundice - due to haemolysis
what is the management of haemolytic uraemic syndrome?
supportive - renal dialysis, antihypertensives, maintain fluid balance, blood transfusion
what is hypospadias?
condition where uretheral meatus is displaced to underside of penis (ventral)
what is epispadias?
condition where the urethral meatus is displaced to the top side of the penis
what is chordee?
where head of penis is bent downwards
what is the management of hypospadias?
referral to paediatric urologist - tell patients to not circumcise baby
surgery may be performed at 3-12 months
what are 3 complications of hypospadias?
difficulty directing urination
cosmetic and psychological concerns
sexual dysfunction
what is phemosis?
pathological non-retration of foreskin
what condition is the most common cause of phimosis?
balantitis xerotica obliterans
what reduction in renal function classes as AKI?
<0.5 ml/Kg/hour over 6 hours
what category of cause is most common in childhood AKI?
pre-renal
what are the 2 most common causes of intra-renal failure in children?
haemolytic uraemic syndrome
acute tubular necrosis
what is stage 1 ckd?
eGFR >90 ml/min per 1.73 m2
what is stage 2 ckd?
eGFR 60-89
what is stage 3 ckd?
eGFR 30-59
what is stage 4 eGFR?
eGFR 15-29
what is stage 5 ckd?
eGGR <15 ml/min per 1.73m2
what 8 presenting features of severe CKD?
anorexia and lethargy
polydipsia and polyuria
faltering growth
bony deformities from renal rickets
hypertension
acute on chronic renal failure
proteinuria
normochomic normocytic anaemia
what type of hypersensitivity reaction in anaphylaxis?
type 1
what immunoglobulin causes anaphylaxis?
IgE
what is the pathophysiology of anaphylaxis?
igE stimulates mast cells to rapidly release histamine in mast cell degranulation
what is the key feature of anaphylaxis vs non-anaphylactic allergy?
anaphylaxis causes compromise of airway, breathing or circulation
what are the 4 allergic symptoms?
urticaria
itching
angio-oedema
abdominal pain
what is the management of anaphylaxis?
ABCDE
IM adrenaline
Antihistamines - chlorphenamine or certirizine
steroids - hydrocortisone
what can be a complication of anaphylaxis?
biphasic reaction - second anaphylactic reaction after treatment
what investigation can be done for anaphylaxis?
serum mast cell tryptase - within 6 hours of event
what are 5 reasons someone with a non-anaphylactic allergic reaction may get an epipen?
asthma requiring ICS
poor access to medical tx
adolescents - higher risk
nut/sting allergies
significant co-morbidities
what is the skin sensitisation theory of allergy?
there is a break in the infants skin that allows allergens from the environment to react with the immune system but there is no contact with the allergen through the GI tract
what is the classification system for hypersensitivity reactions?
cooms and gell
what is a type 1 hypersensitivity reaction?
IgE antibodies trigger mast cells and basophils to degranulate causing an immediate reaction - food allergy reactions
what is a type 2 hypersensitivity reaction?
IgG and IgM mediated activating the complement system leading to direct damage of local cells - haemolytic disease of newborn, transfusion reactions
what is a type 3 hypersensitivity reaction?
immune complexes accumulate and cause damage to local tissues - autoimmune conditions
what is a type 4 hypersensitivity reaction?
cell mediated caused by T lymphocytes which are inappropriately activated causing inflammation and damage to local tissues - organ transplant rejection, contact dermatitis
what are 3 investigations for allergies?
skin prick test
RAST testing - measure of allergen specific IgE
food challenge - gold standard
what hypersensitivity reaction is allergic rhinits?
type 1 IgE
what is the presentation of allergic rhinitis?
runny, bocked, itchy nose
sneezing
itchy, red, swollen eyes
clear nasal discharge
post nasal drip
what are 3 non-sedating antihistamines?
certirizine
loratadine
fexofenadine
what are 2 sedating anti-histamines?
chlorpenamine
promethazine
what can be taken as prophylactic for allergic rhinits?
nasal corticosteroids - fluticasone, mometasone
what are 3 live vaccinations?
BCG
MMR
nasal flu vaccine
what can cafe-au-lait spots be a sign of?
neurofibromatosis type 1 (if have 6+)
what 3 things can port wine marks rarely be a sign of?
sturge-weber syndrome
klippel trenaunay syndrome
macrocephaly-capillary malformation
what are mongolial blue spots?
blue/black macular discolouration at base of spine and on buttocks or thighs - fade over first few years of life
what is the name of the red skin mark that can grow up until a child’s first birthday?
haemangioma - strawberry naevus
what is osteogenesis imperfecta?
genetic condition also known as brittle bone disease caused by mutation in formation of collagen
what is the inheritance of osteogenesis imperfecta?
Autosomal dominant
what are 8 features associated with osteogenesis imperfecta?
hypermobility
blue/grey sclera
triangular face
short stature
deafness from early adulthood
dental problems
bone deformities
joint and bone pain
what are blood results usually like in osteogenesis imperfecta?
normal - calcium, phosphate, parathyroid, ALP
what is the pathophysiology of rickets?
deficiency in vitamin D/calcium which results in defective bone mineralisation
what is the name of the genetic version of rickets?
hereditary hypophasphataemic rickets
what is the inheritance of hereditary hypophosphataemic rickets?
X-linked dominant
what are 8 presentations of rickets?
lethargy
bone pain
swollen wrists
bone deformuty
poor growth
dental problems
muscle weakness
pathological or abnormal fractures
what are 5 bone deformities in rickets?
bowing of legs
knock knees
rachitic rosary - expanded ribs causing lumps on chest
craniotabes - soft skull, delayed closing
delayed teeth
what investigation is done for vitamin d deficiency?
serum 25-hydroxyvitamin D - <25nmol/L = deficiency
what are 5 investigations that can be done for rickets?
serum 25-hydroxyvitamin D
serum calcium
serum phosphate
serum alkaline phosphatase
parathyroid hormone
what is the most common cause of hip pain in children 3-10 years?
transient synovitis
what is transient synovitis often associated with?
preceeding viral upper resp tract infection
low grade fever
what criteria can be used to distinguish between transient synovitis and septic arthritis in children?
Kocher criteria
what is the Kocher criteria?
For septic arthritis in children
Fever >38.5
Non-weight bearing
Raised ESR
Raised WCC
what age is septic arthritis most common in?
<4 years
what is perthes disease?
disruption of blood flow to femoral head causing avascular necrosis of the epiphysis of the femur
what age group does perthes disease occur most commonly in?
Occurs 4-12 years age group most commonly 5-8 years
More prevalent in boys
what is the presentation of perthe’s disease?
slow onset of
Pain inn hip/groin
Limp
Restricted hip movements
Referred pain to knee
what investigation is used to confirm absence of perthe’s disease in normal x-ray?
Technertium bone scan
OR
MRI
what staging can be used for perthe’s disease?
Catterall staging
what are 2 complications of perthe’s disease?
Osteoarthritis
premature fusion of growth plates
what is the management of perthe’s disease?
Bed rest
traction
crutches
analgesia
physio
regular x-rays
Surgery may be required if present at older age or greater stage of disease
what is slipped upper femoral eiphysis? (SUFE)
when head of femur displaces along growth plate
who is SUFE more common in?
boys aged 8-15
obese children
May be history of mild trauma
how do people with SUFE prefer to hold their hip?
in external rotation and have limited movement of hip
what is the 1st line investigation for SUFE?
X-ray - AP and Lateral (frag leg) views
what is the management of SUFE?
Avoid weight bearing
surgery to correct femoral head position - internal fixation
what are 4 complications of SUFE?
Osteoarthritis
Avascular necrosis of the femoral head
Chondrolysis
Leg length discrepancy
what is developmental dysplasia of the hip?
structural abnormality n developmental of foetal bones leading to instability of the hips and tendency for subluxation or dislocation
what are 7 risk factors for developmental dysplasia of the hip?
FHx 1st degree relative
breech presentation > 36 weeks or at birth
Multiple pregnancy
Female
oligohydramnios
prematurity
macrosomnia (>5kg)
what are 6 findings that may suggest developmental dysplasia of the hip on neonatal examination?
different leg lengths
restricted hip abduction on one side
significant bilateral restriction in hip abduction
difference in knee level with flexed hips
clunking of hips on special tests
asymmetrical skin folds
what are two special test for developmental dysplasia of the hio?
ortolani test
barlow test
what infants require an US for developmental dysplasia of the hip? 3
1st degree relative Hx of hip problem in early life
Breech at or after 36 weeks
Multiple pregnancy
what is the ortolani test?
for developmental dysplasia of the hip
hips and knees flexed, hips gently abducted and pushed from the back to see if they will dislocate anteriorly
what is barlow test?
for developmental dysplasia of the hip
hips and knees flexed and gentle pressure put on knees through femur to see if hips will dislocate posteriorly
what investigation can be done for developmetal dysplasia of the hips?
US hip
what is the 1st line investigation for developmental dysplasia of the hip if presenting >4.5 months old?
X-ray hip
what is the management for developmental dysplasia of the hips?
Pavlik harness (<6 months) for 6-8 weeks
surgery if harness fails or >6 months old and then hip spica cast
what are 5 complications of developmental dysplasia of the hip?
Pain
Hip instability
early onset hip osteoarthritis
femoral nerve palsy
avascular necrosis of the femoral head
what are the 5 subtypes of juvenile idiopathic arthritis?
systemic JIA
polyarticular JIA
Oligoarticular JIa
enthesitis related arthritis
juvenile psoriatic arthritis
what is systemic juvenile idiopathic arthritis also known as?
Still’s disease
what are 8 manifestations of systemic JIA?
subtle salmon pink rash
high swinging fevers
enlarged lymph nodes
weight loss
joint inflammation and pain
splenomegally
muscle pain
pleuritis and pericarditis
> 6 weeks
what is seen on blood tests in systemic JIA?
negative - antinuclear antibodies, RF
Raised CRP, ESR, platelets, ferritin
what is are 2 key complication of systemic JIA?
macrophage activation syndrome - severe inflammatory responce causing DIC, anaemia, thrombocytopenia, bleeding, non-blanching rash
chronic anterior uveitis
what are 4 key non-infective causes of fever in children > 5 days?
kawasaki disease
still disease (systemic JIA)
rheumatic fever
leukaemia
what is polyarticular JIA?
idiopathic inflammatory arthritis in 5+ joints - equivalent of RhA in adults though most children are seronegative
what is oligoarticular JIA?
monoarthritis affecting <4 joints, classically associated with anterior uveitis. most common in gils under 6
what is enthesitis related arthritis?
paediatric seronegative spondyloarthropathies. inflammatory arthritis + enthesitis (inflammation of tendon insertion points)
usually HLA-B27 +ve
what are 5 signs of juvenile psoriatic arthritis?
places of psoriasis
nail piitting
onycholysis (seperation of nail bed)
dactylitis
enthesitis
what is the management of juvenile idiopathic arthritis?
NSAIDs
steroids
DMARDs - methotrexate
Biologics - TNF inhibitors, infliximab etc
what age group does kawasaki’s usually affect?
<5 years
what is a key complication of kawasaki disease?
coronary artery aneurysm
what is the pathophysiology of kawasaki disease?
systemic medium sized vessel vasculitis?
what are 7 key features of kawasaki?
high (>39) fever >5 days
widespread erythematous maculopapular rash on trunk
Oedema of hands and feed preceding desquamation
Strawberry tongue and cracked lips
cervical lymphadenopathy
bilateral conjunctivitis
arthritis
what are 5 investigations for kawasaki?
FBC - anaemia, leukocytosis, thrombocytosis
LFTS - hypoalbuminaemia, elevated enzymes
raised inflammatory markers (particularly esr)
Urinaralysis - wt cells without infection
ECHO
what happens in the acute phase of kawasakis?
most unwell for 1-2 weeks
Fever, rash, lymphadenopathy
what happens in the subacute phase of kawasakis?
weeks 2-4
acute symptoms settle
desquamation, strawberry tongue and arthralgia
occur - there is risk of coronary artery aneurysms forming
what happens in the covalescent stage of kawasakis?
week 2-4
remaining symptoms settle
what is the management of kawasaki disease?
high dose aspirin - reduce risk of throbosis
IV Ig to reduce risk of coronary artery aneurysm
what is Reye’s syndrome
a preceeding viral infection usually treated with ASPIRIN followed by acute encephalopathy and hepatic dysfunction in children and young people
what are 4 complications of Kawasaki disease?
coronary artery aneurysm
Myocarditis
pericarditis
Reye’s syndrome
what follow up is needed with kawasakis?
ECG and ECHO
what cells produce surfactant?
type II pneumocytes
when does surfactant start to be produced?
between 24-34 weeks gestation
what is required to keep the ductus arteriosus open?
prostaglandins
what can extended hypoxia lead to during birth?
hypoxic-ischaemic encephalopathy => cerebral palsy
what are 3 issues of neonatal resuscitation?
large SA to weight ratio - cold
born wet and loose heat rapidly
meconium aspiration
what are 5 principles of neonatal resuscitation?
warm baby
calculate APGAR score
stimulate breathing
inflation breaths
chest compressions
when should you calculate the APGAR score?
1, 5 and 10 minutes during resus
how do you stimulate breathing in neonatal resussitation?
dry vigorously with towel
place baby head in neutral
check for airway obstruction and consider aspiration if gasping or unable to breathe
how should inflation breaths be given in neonates?
2 cycles of 5 inflation breaths
if no response 30s of ventilation breaths can be used
then chest compressions coordinated with ventilation breaths
what should be used for inflation breaths in preterm vs term babies?
preterm - air and O2
term - just air
when should you start chest compressions in a neonate?
if HR <60 bpm despite resus and inflation breaths
what is the APGAR score?
for neonatal resus
Appearance (skin colour)
Pulse
Grimmace (to stimulation)
Activity (tone)
respiration
what is the scoring for appearance in APGAR?
blue/pale centrally = 0
blue extremities = 1
pink = 2
what is the scoring for pulse in APGAR?
Absent = 0
<100 = 1
>100 = 2
what is the scoring for grimmace in APGAR?
no response = 0
little response = 1
good response = 2
what is the scoring for activity in APGAR?
floppy = 0
flexed arms and legs =1
active = 2
what is the scoring for respiration in APGAR?
absent =0
slow/irregular = 1
strong/crying = 2
how long should delayed cord clamping be?
1 minute
under what gestation can be affected by respiratory distress syndrome?
< 32 weeks
what xray changes are seen in respiratory distress syndrome?
ground glass appearance
what are 4 types of ventilatory support that may be needed by premature neonates?
intubation and ventilation
endotracheal surfactant
CPAP
supplementary oxygen
what are 6 short term complications of respiratory distress syndrome?
penumothorax
infection
apnoea
intraventricular haemorrhage
pulmonary haemorrhage
necrotising enterocolitis
what are 3 long term complications of respiratory distress syndrome?
chronic lung disease of prematurity
retinopathy of prematurity
neurological, hearing or visual impairment
what is the management of neonatal respiratory distress syndrome?
Antenatal maternal glucocorticoids as prophylaxis
Raised ambient Ox - aim 92-95% sats
Surfactant therapy
mechanical ventilation
what is transient tachypnoea of the newborn?
benign self limiting condition caused by delay in reabsorption of lung liquid after birth
Usually self resolves within 1st day of life
what is the 1st line investigation for transient tachypnoea of the newborn?
CXR - fluid in horizontal fissure
what are 3 risk factors for transient tachypnoea of the newborn?
prematurity
gestational diabetes
c-section
when can physiological jaundice be present?
from 2-10 days of age
what are 8 causes of increased production of bilirubin in neonates?
haemolytic disease of newborn
ABO incompatibility
Haemorrhage
intraventricular haemorrhage
cephalo-haemorrhage
polycythaemia
sepsis and DIC
G6PD deficiency
what are 6 causes of decreased bilirubin clearance in neonates?
prematurity
breast milk jaundice
neonatal cholestasis
extrahepatic biliary atresia
endocrine disorders
gilbert syndrome
when is jaundice always pathological?
in first 24 hours of life
can be sign of sepsis
what is kernicterus?
brain damage due to high unconjugated bilirubin
what causes haemolytic disease of the newborn?
rhesus incompatability
what is prolonged neonatal jaundice?
14+ days in full term babies
21+ days in premature babies
what test is done for autoimmune haemolysis?
direct coombs test
what is used to monitor neonatal jaundice?
treatment threshold charts
what is the usual treatment of neonatal jaundice?
phototherapy with blue light (450nm)
what are 3 complications of kernictus?
cerebral palsy
learning disability
deafness
what is the medical management of supraventricular tachycardia?
adenosine - after valsalva manoeuvres
what is necrotising enterocolitis?
disorder affecting premature neonates where part of bowel becomes necrotic and can lead to perforation
what are 5 risk factors for necrotising enterocilitis?
very low birth weight or v premature
formula feeds
resp distress and assisted ventilation
sepsis
patent ductus arteriosus and congenital heart disease
what are 6 features of necrotising enterocolitis?
intolerance to feeds
vomiting green bile
distended tender abdomen
blood in stool
absent bowel sounds
generally unwell
what investigation is good for diagnosing necrotising enterocolitis?
abdo Xray - supine, lateral, lateral decubitus
what can be seen on xray with necrotising enterocolitis?
dilated bowel loops
bowel wall oedema
pneumatosis intestinalis - gas in bowel wall
pneumoperitoneum - free gas in peritoneum
gas in portal veins
what is the management of necrotising enterocolitis?
nil by mouth
iv fluids
total parenteral nutrition
antibiotics
NG tube - to drain fluid and gas
SURGERY
what are 8 complications of necrotising enterocolitis?
perforation and peritonitis
sepsis
death
strictures
abcess formation
recurrence
long term stoma
short bowel syndrome
what are the torch congenital infections?
Toxoplasmosis
rubella
cytomegalavirus
herpes simplex
HIV
at what gestation is the risk of congenital rubella highest?
< 3 months
what are 3 features of congenital rubella?
Classic triad of - deafness, blindness (congenital cataracts) and congenital heart disease
also learning disability
growth retardation
hepatosplenomegaly
purpuric skin lesions
salt and pepper chorioretinitis
microphthalmia
cerebral palsy
can pregnant women be given the MMR vaccine?
NO
should give to non-immune mothers postnatally
what are 6 features of congenital cytomegalovirus?
foetal growth restriction
microcephaly
hearing loss
vision loss
learning disability
seizures
what is the classic triad of congenital toxoplasmosis gondii?
intracranial calcification
hydrocephalus
chorioretinitis (type of posterior uveitis)
what are 6 manifestations of neonatal herpes?
external herpes lesions
liver involvement
encephalitis
sezures, tremmors, lethargy, irritability
what are 5 complications of chicken pox in pregnancy?
foetal varicellar zoster syndrome
pneumonitis
hepatitis
encephalitis
severe neonatal infection
what are 6 manifestations of congenital varicella syndrome?
foetal growth restriction
microcephaly
hydrocephalus, learnign disability
scars and skin changes
limb hypoplasia
cataracts and chorioretinitis
what is given to a baby immediatly after birth?
vitamin K IM injection
what 9 conditions are tested for in the blood spot test?
sickle cell
CF
congenital hypothyroidism
phenylketonuria
medium chain acy-COA dehydrogenase deficiency
maple syrup urine disease
isovaleric acidaemia
glutaric aciduria type 1
homocystin
at what age does the heel prick test happen?
5 days old
how long does the heel prick take to come back?
6-8 weeks
when is the NIPE examination done?
<72 hours of birth
when is the NIPE repeated?
6-8 weeks by GP
when does the ductus arteriosus close?
1-3 days
how small should the difference in pre-ductal and post-ductal O2 saturations be in the NIPE?
<2%
pre-ductal - R hand
post ductal - feet
what is the name of oedema of the scalp outside the periosteum due to trauma in birth which crosses suture lines?
caput succedaneum
what is the name of a collection of blood between the skull and periosteum due to trauma in delivery which does not cross suture lines?
cephalohaematoma
what is erbs palsy?
damage to C5/6 brachial plexus leading to weakness in shoulder abduction and external rotation, arm flexion and finger extension
may have a ‘waiters tip appearance’ - internal rotation of shoulder with elbow extension
what are 5 common organisms in neonatal sepsis?
GBS - most common
E. Coli - most common
Listeria
Klebsiella
staph aureus
what is early onset neonatal sepsis?
<72 hours
what is late onset neonatal sepsis?
Onset days 7-28
what are 6 risk factors for neonatal sepsis?
vaginal GBS colonisation
GBS sepsis in previous baby
Maternal sepsis, chorioamniotitis or fever
prematurity
premature ROM
prolonged rupture of membranes
low birth weight <2.5kg
what are 6 red flags for neonatal sepsis?
confirmed/suspected sepsis in mother
signs of sock
seizures
term baby needing mechanical ventilation
resp distress starting 4+ hours after burth
presumed sepsis in other multiple
what are 10 clinical features of neonatal sepsis?
fever
reduced tone and activity
poor feeding
resp distress or apnoea
vomiting
tachy or brady
hypoxia
jaundice <24 hours
seizures
hypoglycaemia
what is the nice treatment for neonatal sepsis?
monitor if 1 risk factor/clinical feature
start antibiotics within one hour if 2 risk factors/clinical features or 1 red flag
what antibiotic should be given in neonatal sepsis?
benzylpenicillin PLUS gentamycin
cefotaxime if lower risk
what is the ongoing management of neonatal sepsis?
check CRP at 24 hours and blood cultures at 36 hours
consider stopping Abx if blood cultures negative and CRP <10 at day 2
what counts as extreme preterm?
<28 weeks
what counts as very preterm?
28-32 weeks
what counts as moderate/late preterm?
32-37 weeks
what are 10 early complications of prematurity?
respiratory distress syndrome
hypothermia
hypoglycaemia
poor feeding
apnoea and bradycardia
neonatal jaundice
intraventricular haemorrhage
retinopathy of prematurity
necrotising enterocolitis
immature immune system and infection
what are 5 long term complications of prematurity?
chronic lung disease of prematurity
learnign an dbehvioural difficulties
susceptibility to infections - particularly resp
hearing and visual impairement
cerebral palsy
what is apnoea?
stopping breathing >20 seconds or shorter periods with oxygen desaturation or bradycardia
what is the causes of apnoea in neonates?
due to immaturity of the autonomic nervous system
what is the management of neonatal apnoea?
tactile stimulation
IV caffeine
what is the pathophysiology of retinopathy of prematurity?
retinal blood vessel formation is stimulated by hypoxia which is the normal condition of the retina during pregnancy so with early exposure to oxygen in prematurity this can stop retinal blood vessel development and cause retinal detachment
who should screening for retinopathy of prematurity be offered to?
<32 weeks gestation
<1.5kg
what is the management of retinopathy of prematurity?
transpupillary laser photocoagulation
cyotherapy
injections of intravitreal VEGF inhibitors
Surgery if retinal detachment
how is a diagnosis of meconium aspiration confirmed?
CXR
what are 3 foetal risk factors for meconium aspiration?
gestational age >42 weeks
foetal distress
APGAR score <7
what ae 5 maternal risk factors for meconium aspiration?
HTN
pr-eclampsia
chorioamnionitis
smoking
substance abuse
what is the management for suspected HSV encephalitis?
aciclovir
How do you get infected with listeria?
consumption of dairy products, raw vegetables, meats and refrigerated foods
passed from mother to baby placentally
what are clinical manifestations of neonatal listeriosis?
abortion
prematurity
still birth
neonatal sepsis
how can listeria infection be diagnosed prenatally and postnatally?
culture or PCR of blood, cervix or amniotic fluid of mother prenatally
culture/PCR of blood, CSF, gastric aspirate, meconium of neonate
what is the management of neonatal listeriosis?
Ampicillin +/- gentamicin for 21 days
what is maternal hyperthyroidism associated with?
foetal tachycardia
small for gestational age
prematurity
still birth
congenital malformations
what is maternal hypothyroidism associated with?
lower IQ and impaired psychomotor development
what are 6 risk factors for neonatal hypoglycaemia?
IUGR
preterm
Maternal diabetes
hypothermia
Neonatal sepsis
Inborn errors of metabolism
Nestidiolastosis
Beckwith-wiedemann syndrome
what are 8 symptoms of neonatal hypoglycaemia?
jitters
irritability
tachypnoea
lethargy
weak cry
drowsiness
hypotonia
seizures
apnoea and hypothermia
what counts as hypoglycaemia in neonates?
<2.6 mmol/L
what is the management of asymptomatic hypoglycaemia in neonates?
Encourage normal feeding
monitor BMs
what are 3 preventative measures for neonatal hypoglycaemia?
Keep warm
skin to skin
Early feeding - within 1 hour of birth
what is the management of symptomatic hypoglycaemia or very low BMs in neonates?
admission to neonatal unit
IV 10% dextrose
what is the pathophysiology of cleft lip and palate?
lip - failure of fusion of the frontonasal and maxillary processes
Palate - failure of fusion of palatine processes and nasal septum
when is a cleft lip and palate usually fixed?
lip - 3 months
palate - 6 months - 1 year
what are 2 USS signs in pregnancy of oesophageal atresia?
polyhydramnios
no stomach bubble
what is a clinical sign of oesophageal atresia in neonates?
persistant salivation and drooling
what is the name of a group of midline congenital defects like oesophageal atresia?
VACTERL association
Vertebral
anorectal
cardiac
tracheo-oesophageal
renal
limb
anomalies
what is the management of oesophageal atresia?
continuous suction of secretions to avoid aspiration until surgery is available
what is an exomphalos?
where abdominal contents protrude through umbilical ring but are covered by transparent sac formed by amniotic membrane and peritoneum
what are 3 conditions associated with exomphalous?
Beckwith-Wiedemann syndrome
Down’s syndrome
cardiac and kidney malformations
what is the management of exomphalos?
Caesarean section
staged repair until sac is able to fit inside abdomen of baby
what congenital condition is duodenal atresia associated with?
downs syndrome
what is an x-ray/USS sign of duodenal atresia?
‘double bubble’ of of distention of stomach and duodenal cap with absence of air distally
what are 3 obstetric complications of diabetes in pregnancy?
polyhydramnios
preeclampsia
early and late foetal loss
what are 3 foetal complications of diabetes in pregnancy?
congenital malformations
IUGR
macrosomia
what are 4 neonatal complications of diabetes in pregnancy?
neonatal hypoglycaemia
respiratory distress syndrome
hypertrophic cardiomyopathy
polycythaemia
what is scoliosis?
lateral curvature of frontal plane of spine. In severe cases can lead to cardiorespiratory failure from curvature of chest
what is torticollis?
Head twisting to the side also called wry neck. The most common cause in infants is a sternomastoid tumour.
what is the incubation period for mumps?
14-25 days
what pathogen causes mumps?
RNA paramyxovirus
what is the presentation of mumps?
prodromal fever, muscle aches, lethargy, reduced appetite, headache and dry mouth for a few days
followed by painful parotid swelling
usually self limiting after around a week
what are 4 complications of mumps?
pancreatitis
orchitis
meningitis
sensorineural hearing loss
How is mumps diagnosed?
salivary PCR
salivary or blood antibodies
what is the management for mumps?
supportive - self limiting infection
what is the rash and its spread in chicken pox?
widespread itchy erythematous raised vesicular blistering lesions - starts as macules then papules then vesicles
Starts on trunk or face and spreads outwards over 2-5 days the crusts after 5 days
what are 5 complications of chicken pox?
bacterial superinfection (necrotising faciitis)
dehydration
conjunctival lesions
pneumonia
encephalitis (presents with ataxia)
what is Ramsay hunt syndrome?
Unilateral weakness or paralysis of facial nerve due to reactivation of varicella zoster (type of shingles)
what medication may increase risk of secondary bacterial infection in chickenpox?
NSAIDs
How long can it take someone to become symptomatic after exposure to chicken pox?
10 days - 3 weeks
what is the management of neonatal varicella zoster infection?
varicella zoster Ig
Aciclovir
what is the management of chickenpox?
Aciclovir - if immunocompromised, >14 years and presenting within 24h, neonates
Calamaine lotion and chlorphenamine for symptoms
what is the presentation of measles?
fever, coryza and conjunctivitis
followed 2 days later by greyish white spots on the buccal mucosa - KOPLIK SPOTS
followed by rash 3-5 days post fever, classically starting behind ears
self limiting after 7-10 days
what sign on examination is pathognomonic for measles?
Koplik spots - grey/white spots on buccal mucosa that appear 2 days after fever
what is the rash like in measles and how does it spread?
starts on face (classically behind ears) 3-5 days after fever and then spreads to rest of body
erythematous macular rash with flat lesions
what is the incubation period of measles?
10-12 days
what are 8 complications of measles?
pneumonia - most common cause of death
diarrhoea
dehydration
encephalitis - 1/2 weeks later
meningitis
hearing loss and otitis media - most common
vision loss
death
subacute sclerosing panencephalitis - CNS demyelination 5-10 years post measles exposure
what can be given prophylactically after measles exposure in an unvaccinated person?
MMR vacine
what is the school exclusion criteria for measles?
4 days after development of rash
what pathogen causes scarlet fever?
exotoxins from group A haemolytic strep (strep pyogenes)
what is the rash in scarlet fever and how does it spread?
red-pink blotchy macular fine pinhead rash with rough SANDPAPER skin
Starts on trunk and spreads outwards spearing palms and soles
may also have flushed cheeks
what are 7 features of scarlet fever?
sandpaper rash
fever - 24-48h
lethargy. headache, nausea
flushed face
sore throat
Strawberry tongue
cervical lymphadenopathy
what is the management of scarlet fever?
1 - phenoxymethylpenicillin (penicillin V) for 10 days
2 - azithromycin in PENICILLIN ALLERGY - 5 days
what is the school exclusion for scarlet fever?
Return 24h after commencing Abx if feel well enough to do so
what are 4 complications of scarlet fever?
post-streptococcal glomerulonephritis
acute rheumatic fever - typically 20 days after infection
Otitis media - most common
Invasive complications - bacteraemia, meningitis
how long is the incubation time for rubella?
2 weeks
what is the rash in rubella and how does it spread?
Erythematous macular rash (milder than measles)
starts on face and spreads to body
lasts 3 days
associated with mild fever, joint pain, sore throat, lymphadenopathy
what are 4 rare complications of rubella?
thrombocytopenia
encephalitis
arthritis
myocarditis
what are 5 presenting features of rubella?
erythematous macular rash
mild fever
joint pain
sore throat
lymphadenopathy
what investigation can be done for rubella?
oral fluid sample
what is the school exclusion criteria for rubella?
5 days from onset of rash
what pathogen causes slapped cheek syndrome?
Parvovirus b19
what is the presentation of parvovirus B19?
fever, coryza and non-specific viral symptoms
followed 2-5 days later by diffuse bright red rash on both cheeks (as though slapped)
a few days later a reticular mildly erythematous affecting trunk and limbs - may be raised and itchy
what are 4 complications of parvovirus?
aplastic anaemia - sickle cell/thalssaemia/spherocytosis
encephalitis or meningitis
pregnancy complications - foetal death due to hydrops fetalis
rare - hepatitis, myocarditis, nephritis
what pathogen causes roseola infantum?
HHV-6/7
what is the presentation of roseola infantum?
presents 1-2 weeks after high fever for 3-5 days which the settles and is followed by a rash
what is the rash like in roseola infantum?
mild erythematous macular rash on arms, legs, trunk and face that isn’t itchy
what are 3 complications of roseola infantum?
febrile convulsions
rare - myocarditis, thrombocytopenua, GBS
what pathogen causes whooping cough?
bordetella pertussis - gram neg
what is the presentation of whooping cough?
mild coryzal symptoms and low grade fever, dry cough
followed by more severe coughing fits after 1 week so much so people may vomit, faint or have a pneumothorax
infants may present with apnoea spells
what are 2 ways to diagnose whooping cough?
nasopharangeal PCR or culture
anti-pertussis toxin IgG if cough present >2 weeks
what is the management of whooping cough?
1 - macrolides - azithromycin, erythromycin, clarithromycin within first 21 days
2 - Co-trimoxazole
what is a complication of whooping cough?
bronchiectasis
what can be given to vulnerable contacts of people with whooping cough?
prophylactic antibiotics
when are infants vaccinated against pertussis?
2, 3, 4 months
3-5 years
when are pregnant women offered the pertussis vacciantion?
16-32 weeks
what bacteria causes diphtheria?
corynebacterium diphtheriae
what are 5 features of diphtheria?
sore throat + difficulty swallowing
fever
lymphadenopathy - bull neck
SOB
pseudomembrane on tonsils and mucosa of pharynx larynx and nose
what is one cardiac complication of diphtheria?
heart block
what is the management of diphtheria?
1 - diphtheria antitoxin
Abx - azithromycin, erythromycin, clarithromycin, IM penicillin
what is the pathogenic cause of scalded skin syndrome?
staph aureus epidermolytic toxins
what age group is usually affected by scalded skin syndrome?
<5 years
what sign is positive in scalded skin syndrome?
Nikolysky sign - gentle rubbing of skin causes it to peel away
what is a major acute complication of polio?
acute flaccid paralysis
what is a possible long term complication of polio?
post-poliomyelitis syndrome - weakness and fatigue of muscle groups affected in acute illness
what is the main cause of viral encephalitis in neonates?
HSV-2 - genital herpes
what is the most common cause of viral encephalitis?
HSV-1 - from cold sores
what is the treatment for encephalitis caused by CMV?
ganciclovir
what are 4 complications of encephalitis?
change in personality, memory or cognition
leaning disability
headache
movement disorders
what is the most common cause of toxic shock syndrome?
group A strep (pyogenese) exotoxins
or s.aureus toxins
what are 5 risk factors for toxic shock?
Extended tampon use
Post partum infection
surgical procedures - breast reconstruction, hysterectomy, lipo
Other infections
burns
retained foreign body
what are 6 presenting features of toxic shock?
severe diffuse or localised pain in an extremity
fever
hypotension
diffuse, scarlatina-like red rash, may desquamate
muscle weakness
multiorgan failure - 3+ organs
what is the management of strep toxic shock?
Removal of infection focus
IV fluids
clindamycin + benzylpenicillin or vancomycin 7-14 days
what is the management for staph toxic shock?
clindamycin + oxacillin or vancomycin
what are 4 complications of toxic shock?
bacteraemia
acute resp distress
DIC
renal failure
what is the management for oral candidaiasis?
miconazole gel
nystatin suspension
fluconazole tablets
what does cutaneous candida rash look like?
sore and itchy pustular or papular erythematous rash with an irregular edge and SATELLITE lesions
often in flexural areas
what is the management of nappy rash?
1 - topical hydrocortisone 1% if inflamed
topical imidazoles (clotrimazole), oral antibiotics if severely inflammed
what causes hand foot and mouth disease?
coxsackie A16 virus
and enterovirus 71
what is the incubation period for hand foot and mouth?
3-5 days
what is the typical history for hand foot and mouth disease?
resp illness + fever
1-2 days later - mouth ulcers then red painful possibly itchy blistering spots across body notably on hands, feet and in mouth
what is the management for hand foot and mouth?
supportive - will resolve in 7-10 days without treatment
does not need school exclusion
what are 3 complications of hand foot and mouth disease?
dehydration
bacterial superinfection
encephalitis
what kind of bacteria in Neisseria meningitidis?
gram negative diplococci
what is the most common cause of meningitis in neonates?
group B strep
what are 5 non-specific signs of meningitis in neonates?
hypotonia
poor feeding
lethargy
hypothermia
bulging fontanelle
what age group do febrile convulsions occur in?
ages 6 months - 5 years
what are simple febrile convulsions?
one generalised tonic clonic <15 minutes
Complete recovery within an hour
No recurrence within 24 hours
what is a complex febrile seizure?
15-30 minutes
Focal seizure
Repeat seizures in 24 hours
when should parents phone an ambulance in febrile seizure?
at 5 minutes
do antipyretics reduce risk of febrile seizure?
NO!
what rescue medication can be given in those with recurrent febrile seizures?
Bucal midazolam
Rectal diazepam
what are 5 possible causes of global developmental delay?
downs
fragile X
foetal alcohol syndrome
rett syndrome
Metabolic disorders
what are 8 manifestations of foetal alcohol syndrome?
microcephaly
thin upper lip
smooth flat philtrum
short palpebral fissure
Cardiac malformations
learning difficulties
behavioural difficulties
hearing and vision problems
cerebral palsy
what are 5 possible causes of gross motor delay?
cerebral palsy
ataxia
myopathy
spina bifida
visual impairement
what are 5 possible causes of fine motor delay?
dyspraxia
cerebral palsy
muscular dystrophy
visual impairment
congenital ataxia
what are 6 possible causes of language delay?
social circumstance
hearing impairement
learning disability
neglect
autism
cerebral palsy
what are 3 possible causes of social delay?
emotional and social neglect
parenting issues
autism
what are the 4 areas of development?
gross motor
fine motor and vision
language and hearing
personal and social
what is the gross motor development of a 3/4 month old?
start supporting head and keep in line with body
what is the gross motor development at 6 months?
Maintain sitting position usually supported as unbalanced
Rolls front to back
at what age do babies usually sit unsupported at at what age should they be referred?
7-8 mon
refer if not by 12 months
what is the gross motor development at 15 months?
walk unaided
what is the gross motor development at 9 months?
sit unsupported
start crawling
maintain standing and bouncing position wile supported
what is the gross motor development at 12 months?
standing and cruising
what is the gross motor developement at 18 months?
squat and pick things up
refer if not walking unsupported by 18 months
what is the gross motor development at 2 years?
run and kick ball
what is the gross motor development at 3 years?
climb stairs one foot at time
stand on one leg
ride tricycle
what is the gross motor development of a 4 year old?
hop
climb stairs normally
what are 8 red flags of developemental milestones?
lost development
unable to hold object 5 months
not sitting unsupported at 12 months
not standing independently 18 months
not walking 2 years
not running 2.5 years
no words 18 months
no interest in others 18 months
what is social development at 6 weeks?
smiles
what is social development at 3 months?
communicates pleasure
what is social development at 6 months?
curious and engages with people
what is social development at 9 months?
apprehensive around strangers
what is social development at 12 months
engages with others
pointing and handing objects
waves bye
claps
what is social development at 2 years?
interest in others beyond parents
parallel play
what is social development by 3 years?
play with others
bowel control
what is social development by 4 years?
has best friend
dry at night
dresses self
imaginative play
what is language development at 3 months?
cooing
turns towards sounds
what is language development at 9 months?
babbling - mama, dada
what is language development at 12 months?
say 1 word in context
follows simple instructions
knows and responds to own name
what is language development at 18 months?
5-10 words
what is language development at 2 years?
combines 2 words
what is language development at 3 years?
basic 3-5 word sentences
identifies colours
asks what and who questions
what is language development at 4 years?
tells stories
asks why, when and how questions
what is fine motor development at 8 weeks?
fixes and attempts to follow
recognises faces
what is fine motor development at 6 months?
palmar grasp
pass objects hand to hand
what is fine motor development at 9 months?
scissor grasp between thumb and forefinger
points with finger
what is fine motor development at 12 months?
pincer grasp with tip of thumb and forefinger
scribbles randomly
bangs toys
what is fine motor development at 14-18 months?
clumsily use cutlery
tower of 3 blocks
what is the first line management for absence seizures?
ethosuximide
when do infantile spasms usually start?
4-8 months
more common in males
what are 3 features of infantile spasms?
Attacks - flexion of head and trunk followed by extension of arms
Lasts 1-2 seconds but is repeated up to 50 times
Progressive mental handicap
what is the prognosis for infantile spasms?
1/3rd die by 25
1/3rd keep seizures
1/3rd seizure free
what is seen on EEG in infantile spasm?
Hypsarrhythmia
what are 2 treatment options for infantile spasms?
1 - Vigabatrin
ACTH - adrenocorticotropic hormone
what is klinefelter syndrome?
when a male has a additional X chromosomes making them 47XXY
what is the presentation of Klinefelters syndrome? (8)
normal development as male till puberty then
taller height
wider hips and gynaecomasitia
weaker muscles
small testes
reduced libido
shyness
infertility
subtle learning difficulties
what hormone differences are there in klinefelter’s syndrome?
Raised gonadotrophin
Low testosterone
what is the management of klinefelters syndrome?
testosterone injections
advanced IVF techniques
breast reduction
what are 4 things that at at increased risks in klinefelters?
breast cancer (more than other men)
osteoporosis
diabetes
anxiety and depression
what is turners syndrome?
females with single X chromosome on chromosome 45 -> 45XO
what are 9 features of turner syndrome?
short stature
webbed neck
high arching palate
downward sloping eyes with ptosis
broad chest and with wide spaced nipples
cubitus valgus - exaggerated elbow angle
underdeveloped ovaries
late/incomplete puberty
infertile
what are 9 conditions associated with turners syndrome?
recurrent otitis media
recurrent UTI
Cardiac - 1 - bicuspid aortic valve, 2- coarctation of aorta, pulmonary stenosis
hypothyroid
hypertension
obesity
diabetes
osteoporosis
horse shoe kidney
learning difficulties
primary amenorrhoea
what are 3 managements for turners?
growth hormone therapy for height
oestrogen and progesterone for female secondary sex characteristics
fertility treatment
what is the genetic abnormality in downs?
Trisomy 21
what are 8 dysmorphic features of downs syndrome?
Brachycephaly (small head with flat occiput)
flattened face and nose
prominent epicanthic folds
Brushfield spots in iris
protruding tongue
Small low set ears
upward sloping palpebral fissures
single palmar crease and large sandal gap
hypotonia
short neck
short stature
what are 8 complications of downs?
recurrent otitis media and deafness (eustachion tube abnormalities)
visual problems
hypothyroidism
cardiac defects - ASD, VSD, PDA, tetralogy
atlantoaxial instability
leukaemia - AML (most common) and ALL
Alzheimers
Hirschprungs disease and duodenal atresia
what cardiac defects are more likely in downs?
ASD
VSD
PDA
Tetralogy of fallot
what nuchal thickness is indicative of downs?
> 6mm
what is the combinded test for downs syndrome?
11-14 weeks
USS for nuchal translucency
bloods - High B-HCG, Low PAPPA
what is the tripple test?
between 14-20 weeks
maternal bloods -
High B-HCG,
Low alpha-fetoprotein
Low serum oestrodiol
what is the quadruple test for downs syndrome?
14-20 weeks
High HCG
Low AFP
Low Total Oestrodiol
High inhibin-A
what are 2 ways of antenatal testing for downs?
chorionic villus sampling
amniocentesis
what are 4 routine follow ups needsd in downs?
regular thyroid checks - 2 yearly
echo
regular audiometry
regular eye checks
what is the average life expectancy for downs?
60 years
what is the genetics underlying patau syndrome?
trisomy 13
what genetics cause Edwards syndrome?
trisomy 18
What are 7 key features of Edwards syndrome syndrome?
Rocker(rounded)-bottom feet
Overlapping fingers
low set ears
Cardiac and renal malformations
low birth weight
prominent occiput
small mouth and chin
short sternum
what are 6 features of Pataus?
Polydactyl
cleft lip and palate
structural defects of brain
scalp defects
small eyes and eye defects
cardiac and renal malformations
May also have rockerbottom feet
what gene is affected in fragile X syndrome?
fragile X mental retardation 1 gene on X chromosome
males are always affected but females vary
due to trinucleotide repeat
what are 8 features of fragile X?
intellectual disability
long narrow face
large low set ears
large testes after puberty
hypermobile joints
ADHD
ASD
Seizures
what gene is affected in Angelman syndrome?
UBE3A gene on chromosome 15
what are key features of Angelman syndrome?
Developmental delay - severe delay/absence in speech
Coordination and balance problems
Fascination with water
happy demeanour
inappropriate laughter
hand flapping
abnormal sleep patterns
epilepsy
ADHD
Dysmorphic features - microcephaly, fair skin, hair and blue eyes, wide mouth and widely spaced teeth
what is the genetics of prader-willi?
loss of functional genes on proximal arm of chromosome 15 inhertied from father
what are 6 key features of prader-willi?
constant insatiable hunger
hypotonia
mild/moderate learning disability
hypogonadism
dysmorphic - narrow forehead, almond eyes, thin upper lip, downturned mouth, squint
mental health problems
Fair soft skin, prone to bruising
what is the management of prader willi?
growth hormone - for improving muscle development an body composition
dieticians, education support, psych, physio, OT
what is the inheritance of most of noonan syndrome?
autosomal dominant
what are 8 features of noonan syndrome?
short stature
broad forehead - triangular shaped face
downward sloping eyes with ptosis
hypertelorism (widespaced eyes)
prominent nasolabial folds
low set ears
webbed neck
widely spaced nipples
what are 6 conditions associated with noonan syndrome?
congenital heart disease - pulmonary stenosis, HOCM, ASD
Undescended testes
learning disability
lymphoedema
increased risk of leukaemia and neuroblastoma
what is the cause of william syndrome?
deletion on chromosome 7 - usually random rather than inherited
what are 8 features of william syndrome?
broad forehead
starburst iris
flattened nasal bridge
long philtrum
wide mouth and spaced teeth
small chin
sociable and trusting personality
mild learning disability
what are 4 conditions associated with william syndrome?
supravalvular aortic tenosis
hypercalcaemia
ADHD
hypertension
what is the management for williams sydrome?
echo and BP monitoring
low calcium diet
what is gower’s sign?
children with proximal weakness get onto their hands and knees then go into downward dog and push themselves up using their hands
MUSCULAR DYSTROPHY
what is the name of the sign that is the way children with muscular dystrophy get up?
Gower’s sign
what are 7 types of muscular dystrophy?
duchennes muscular dystrophy
beckers muscular dystrophy
faciosapulohumeral muscular dystrophy
oculopharyngeal muscular dystrophy
limb-girdle muscular dystrophy
emery-dreifuss muscular dystrophy
what is the inheritance for duchennes MD?
X-linked recessive
what is the genetic cause of duchennes muscular dystrophy?
defective dystrophin gene on X-chromosome due to frame shift
Dystrophin holds muscles together at cellular levels
what is the presentation of Duchenne MD?
Progressive proximal muscle weakness from 2-5 years
Calf pseudohypertrophy
Gower’s sign
waddling gait
30% have intellectual impairment
what are 2 investigations for Duchenne MD?
Creatinine kinase
genetic testing
what is the prognosis for duchennes MD?
25-35 years
what is the management of duchennes MD?
oral steroids - slow progress of muscle weakness
creatine supplements improve muscle strength
when do symptoms start to appear in Duchenne MD?
3-5 years
what are 3 complications of Duchenne MD?
Dilated cardiomyopathy
Respiratory failure - due to weakness of diaphragm
Arrhythmias
when do symptoms start to appear in beckers MD?
8-12 years
less severe than Duchenne
Require wheelchair in adulthood
when does myotonic dystrophy usually present?
adulthood
what are 4 key features of myotonic dystrophy?
progressive muscle weakness
prolonged muscle contractions
cataracts
cardiac arrhythmia
what are 4 key features of facioscapulohumeral muscular dystrophy?
weakness around face progressing to shoulders and arms
sleeping with eyes slightly open
weak pursing lips
unable to blow out cheeks without air leaking from mouth
Onset in childhood
what are 3 key features of oculopharyngeal MD?
bilateral ptosis
restricted eye movements
swallowing problems
usually presents in late adulthood
what is limb girdle MD?
presents in teenage years with progressive weakness around limb girdles - hips and shoulders
what is emery-dreifuss MD?
presents in childhood with contractures which restricts range of movement
also progressive weakness and wasting of muscles starting with upper arms and lower legs
what bacteria causes TB?
mycobacterium tuberculosis
what stain is required in TB?
Zeihl-neelson stain
acid-fast bacilli that turn red against blue background on Z-N
what are 8 symptoms of TB?
cough
haemoptysis
lethargy
fever/night sweats
wt loss
lymphadenopathy
erythema nodosum
spinal pain
what are 2 investigations for TB?
mantoux test
interferon gamma release assay
what is the mantoux test?
for TB
inject tuberculin proteins into intradermal space and measure size of injection site at 72 hours - >5mm = positive
what is the appearance of disseminated miliary TB on CXR?
millet seeds uniformally distributed
what is the treatment for active TB?
RIPE
Rifampicin - 6 months
Isoniazid - 6 months
Pyrazinamide - 2 months
Ethanbutol - 2 months
what is the treatment of latent TB?
isoniazid and rifampicin 3 months
or isoniazid for 6 months
what are 3 side effect of rifampicin?
red/orange piss and tears
reduced CYP450 drug effectiveness - COCP
hepatotoxic
what should be prescribed with isoniazid?
pyridoxine (vit B6)
what are 2 side effects of isoniazid?
peripheral neuropathy
hepatotoxic
what are 2 side effects of pyrazinamide?
hyperuricaemia => gout and kidney stones
hepatotoxic
what are 2 side effects of ethambutol?
colour blindness
reduced visual acuity
what are 3 risks of undescended testes?
testicular torsion
infertility
testicular cancer
what are 5 risk factors for undescended testes?
FHx
low birth weight
small for gestational age
prematurity
maternal smoking
what is the management for unilateral undescended testes?
watch and wait for 3 months then refer
orchidopexy between 6-12 months
what is the management of bilateral undescended testes?
urgent review within 24 hours
what are 6 presentations of congenital hypothyroidism?
usually picked up on blood spot
prolonged neonatal jaundice
poor feeding
constipation
increased sleeping
reduced activity
slow growth and development
what is a complication of congenital hypothyroidism?
irreversible cognitive impairment if not treated within first 4 weeks of life
what antibody is present in hashimotos?
antithyroid peroxidase antibodies and antithroglobulin antibodies
what causes congenital adrenal hyperplasia?
congenital deficiency in 21-hydroxylase enzyme causing underproduction of cortisol and aldosterone and overproduction of androgens (testosterone)
Causes increased sodium and potassium excretion
what is the inheritance pattern for congenital adrenal hyperplasia?
autosomal recessive
what is the pathophysiology of congenital adrenal hyperplasia?
lack of 21-hydroxylase which converts progesterone into aldosterone and cortisol
progesterone can be converted to testosterone without 21-hydroxylase enzyme therefore all progesterone is converted to testosterone instead of aldosterone and cortisol
what is the presentation of congenital adrenal hyperplasia in severe cases?
enlarged clitoris in females
hyponatraemia
hyperkalaemia
hypoglycaemia
poor feeding
vomiting
dehydration
arrhythmias
SKIN HYPERPIGMENTATION
what is the presentation of congenital adrenal hyperplasia in mild cases?
female
- tall for age
- facial hair
- absent periods
- deep voice
- early puberty
Males
- tall or age
- deep voice
- large penis
- small testicles
- early puberty
what investigations can be done for congenital adrenal hyperplasia?
serum 17-hydroxyprogesterone levels
serum electrolytes - hyponatraemia, hyperkalaemia, acidosis
serum hormone levels
genetic testing
what is the management of congenital adrenal hyperplasia?
cortisol replacement - hydrocortisone
aldosterone replacement - fludrocortisone
virilised genitals corrective surgery
what are 6 complications of congenital adrenal hyperplasia?
adrenal crisis
infertibility
short stature
peripheral precocious puberty
metabolic abnormalities
psychological issues
what is the inheritance pattern for androgen insensitivity syndrome?
X-linked recessive due to mutation on androgen receptor gene on X-chromosome in XY males
what is the pathophysiology of androgen insensitivity syndrome?
cells are unresponsive to androgen hormones due to a lack of androgen receptors leading to excess androgens which are converted to oestrogen resulting in female secondary sexual characteristics and external female phenotypes from birth. Internally there are testes in the abdo/inguinal canal but no internal female organs due to the testes releasing anti-Mullerian hormone
what are 2 presentations of androgen insensitivity syndrome?
inguinal hernias
primary amenorrhoea
what will hormone bloods be like in androgen insensitivity syndrome?
Raised LH
normal/raised FSH
Normal/raised testosterone for a man
Raised oestrogen for a man
what is the management for androgen insensitivity syndrome?
bilateral orchidectomy - testicular tumours
oestrogen therapy
vaginal dilators and surgery
what is a wilms tumour?
nephroblastoma
one of the most common childhood malignancies
what age does Wilms tumours usually present in?
<5 years
what are 4 congential syndromes that increase risk of wilms tumour?
WAGR syndrome - wilms tumour, aniridia, genitourinary anomalies, mental retardation
Denys-drash syndrome - wilms, renal failure, ambiguous genitalia
Beckwith-weidmann syndrome - congenital overgrowth
Hemihypertrophy - overgrowth on one side of the body
what are 7 presentations of Wilms tumours?
abdo pain
painless haematuria
lethargy
fever
HTN
Weight loss
Abdo mass
What is the first line Ix for a Wilms tumour?
USS abdo
what is the management of Wilms tumour?
refer for r/v in <48h if suspected
surgical excision +/- nephrectomy
+/- adjuvant chemo/radio
what is the prognosis for Wilms tumour?
up to 90% cure in early stages
what is the most common leukaemia in children?
1st - ALL
2nd - AML
what is the most common leukaemia affecting people with Down’s?
AML
what age is the peak incidence of ALL?
2-3 years
what age is the peak incidence of AML?
<2 years
what are 4 conditions that are risk factors for leukaemia?
Down syndrome
kleinfelter syndrome
Noonan syndrome
faconi’s anaemia
what is the prognosis for ALL?
80% cure rate
what are 7 complications of chemo?
failure of treatment
stunted growth and development
immunodeficiency and infection
neurotoxicity
infertility
secondary malignancy
cardiotoxicity
what causes Idiopathic thrombocytopenic purpura?
type 2 hypersensitivity reaction that casues antibodies to target and destroy platelets either spontaneously or triggered due to viral infection
what age group does idiopathic thrombocytopenic purpura present in?
<10 years
what is the management for severe idiopathic throbocytopenic purpura?
prednisolone
IVIG
blood transfusion if required
platelet transfusion may work temporarily
what are 4 complications of ITP?
chronic ITP
anaemia
intracrania and subrachnoid haemorrhage
GI bleeds
what are 5 causes of anaemia in infants?
physiological anaemia
anaemia of prematurity
blood loss
haemolysis
twin-twin transfusion syndrome
what are 3 causes of haemolysis in neonates?
Haemolytic disease of the newborn
Hereditary spherocytosis
G6PD deficiency
what is physiological anaemia of infancy?
normal dip in haemoglobin at 6-9 weeks due to high O2 at birth
what are 4 reasons for anaemia of prematurity?
less time in utero getting iron from mum
RBC production cant keep up with growth
reduced EPO
blood tests
what is the treatment for helminth infection?
albendazole or mebendazole
what can interfere with iron absorption?
acid from stomach is required to comvert iron into ferrous (Fe2+) form so PPIs can interfere with absorption
also coeliac or crohns
what test can be used to identify haemolytic disease of the newborn?
direct coombs test
what deficiency causes haemophilia A?
factor VIII
what deficiency causes haemophilia B?
factor IX
what is the inheritance pattern for haemophilia?
X-linked recessive
what is von willebrand factor?
a glycoprotein important in platelet adhesion and aggregation (formation of platelet plug)
what are the 3 types of von-willebrand factor disease?
1 - partial deficiency
2 - reduced function
3 - complete deficiency
what is the acute management of von willebrand disease?
desmopressin (stimulated release of vWF from endothelial cells)
Tranexamic acid
vWF infusion +/- factor VIII
what is faconi anaemia?
rare inherited disorder of gradual bone marrow failure and birth defects eventually leading to aplastic anaemia
what is kallmann syndrome and 3 features?
an X linked disorder
Causes hypogonadotrophic hypogonadism due to failure of GnRH release
Delayed puberty
Low sex hormones, LH and FSH very low
ANOSMIA
Clef lip/palate and visual/hearing defects are sometimes seen
what are the three key areas affected by Autism?
deficits in
social interaction
communication and behaviour
what are 6 possible social diferences in autism?
lack of eye contact
delay in smiling
avoids physical contact
unable to read non-verbal cues
difficulty establishing friendships
no desire to share attention (play with others)
what are 4 communication diferences in autism?
delay, absence or regression in language
lack of appropriate non-erbal communication
difficulty with imaginative or imitative behaviours
repetitive use of words or phrases
what are 6 behavioural differences in autism?
greater interest in things than people
sterotypical repetitive movements
intensive deep interests
repetitive behaviours and fixed routines
anxiety and distress with deviation from routine
extremely restricted food preferences
what are 6 features of ADHD?
very short attention span
quick moving from one activity to another
quick loss of interest in task or inability to persist with challenging task
constantly moving or fidgeting
impulsive behaviour
disruptive or rule breaking
what are 3 ADHD meds?
methyphenidate - ritalin
dexamfetamine
atomoxetine
what is the first line antidepressant in children?
Fluoxetine 10-20mg
what are 8 signs of dehydration?
appear unwell
altered consciousness
sunken eyes
tachycardia
tachypnoea
reduced skin turgor
dry mucous membranes
decreased urine outpt
what is the first line maintenance fluid choice in children >28 days?
0.9% NaCl + 5% glucose
what is the first line fluid choice in neonate <28 days?
if well 10% dextrose if unwell seek advice
what is the formula for maintenance fluids in >28 days of life?
100 mk/kg/day 1st 10kg
50ml/kg/day 2nd 10kg
20 ml/kg/day >20kg
what is the maintenance fluid requirements for <28 days?
day 1 - 50-60 ml/kg/day
2 - 70-80 ml/kg/day
3 - 80-100 ,l/kg/day
4 - 100-120 ml/kg/day
5-28 - 120-150 ml/kg/day
what is the calculation for percentage dehydration?
(well weight - current weight)/well weight
X100
how do you calculate fluid deficit?
% dehydration X weight (kG) X 10
how do you calculate total fluid requirement?
maintenance fluid + fluid deficit
what fluids should be given for resucitation?
0.9% NaCl
10 ml/Kg <10 mins
what is the normal ages to start to develop secondary sexual characteristics in males and females?
males - 9 years
females - 8 years
development before this age is precocious puberty
what are are 8 complications of obesity?
Slipped upper femoral epiphysis (SUFE)
idiopathic intracranial hypertension
hypoventilation syndrome
fatty liver disease
T2DM
PCOS
HTN
abnormal blood lipids
what medication can be given to severely obese children >12 years?
orlistat
what are 4 causes of gonadotrophin (pituitary) dependant precocious puberty?
idiopathic/familial
CNS abnormalities - congenital, tumours (neurfibromatosis, craniopharyngioma)
Hypothyroism
what are 5 gonadotrophin independent causes of precocious puberty?
adrenal tumour
congenital adrenal hyperplasia
ovarian/testicular tumour (granulosa/leydig cell)
Exogenous sex steroids
what age is usually affected by premature breast development (thelarche) absent of any other signs of precocious puberty?
6 months - 2 years
fluctuating development of breast buds which is self limiting and does not require treatment
what is premature pubarche (adrenarche)?
when pubic hair develops precociously with no other signs of sexual development most commonly caused by accentuation of normal maturation androgen. More common in non-white population. Leads to increased risk of PCOS in adult life.
what is delayed puberty in males and females?
> 14 years in females
15 years in males
what are 7 causes of delayed puberty?
congenital/familial - most common
hypogonadotrophic hypogonadism
Hypergonadotrophic hypogonadism
what are 4 causes of hypogonadotrophic hypogonadism?
systemic disease - CF, asthma, crohns
Hypothalamo-pituitary disorders - tumours, kallman syndrome, pituitary dysfunction
acquired hypothyroidism
what are 3 causes of hypergonadotrophic hypogonadism?
chromosomal abnormalities - klinefelter syndrome, turner syndrome
steroid hormone enzyme deficiencies
acquired gonadal damage
what is the most common solid tumour in children?
brain tumour
what is the most common brain tumour in children?
astrocytomas - raneg from benign to the highly malignant glioblastoma multiforme
what is the clinical presentation of brain tumour?
persistant/recurrent vomiting
problems with balance, coordination or walking
behaviour change
abnormal eye movement
seizures
abnormal head positioning
headache
blurred/double vision
lethargy
deteriorating school work/developmental delay
increasing head size in infants
what is medulloblastoma?
2nd most common childhood brain tumour
arises in midline of posteriod fossa and may spread through CSF to spinal mets
what is an ependymoma?
brain tumour that behaves much like medulloblastoma but arises in posterior fossa
what is a brainstem glioma?
malignant brain tumour with very poor prognosis
what is a craniophryngioma?
developmental tumour arising from squamous remnant of rathke pouch - non-malignant but locally invasive
what age group is affected by neuroblastoma?
<6 years
where do neuroblastomas arise from?
neural crest tissue in adrenal medulla and sympathetic nervous system
what is the presentation of neuroblastoma?
mostly abdo mass but primary tumour may be anywhere along sympathetic chain from neck to pelvis
pallor, wt loss, abdo mass, hepatomegally, bone pain, limp, proptosis
what investigations can be does for neuroblastoma?
urinary catecholamine metabolite levels (VMA/HVA)
BIOPSY
what congenital condition is associated with increased risk of neuroblastoma?
noonan syndrome
what is the inheritance pattern for retinoblastomas and what chromosome is it found on?
autosomal dominant - incomplete penetrance
chromosome 13
what are 2 presenting features of retinoblastoma?
red reflex turns white (leukocoria)
squint
ocular inflammation and redness
vision loss
what is the management of retinoblastoma?
systemic chemo
local therapies - laser photocoagulation or thermotherapy
enucleation - removal of eyeball
orbital exenteration
radiotherapy
what is the most common liver tumour in children?
hepatoblastoma
usually presents with bloating and abdo mass
what serum maker an be used for hepatoblastoma?
Alpha fetoprotein
when does the palmar reflex usually disappear?
2-6 months
when does the sucking reflex usually start?
around 32 weeks gestation - not fully developed until 36 weeks
how long does the moro reflex last?
around 2 months
how long does the stepping reflex last?
around 2 months
how long does the rooting reflex last?
around 4 months
what does use of NSAIDs in chicken pox increase risk of?
necrotising fasciitis - increase risk of bacterial infection
what is the infectivity period of chicken pox?
from 4 days pre-rash to around 5 days after rash appears when all crusted over
when is the meningitis B vaccine given?
2 months, 4 months, 12 months
what is the proper name for threadworms?
enterobius vermicularis
what is the management for threadworms?
Mebendazole single dose for whole household
only for >6 months
what does a blood gas with pyloric stenosis look like?
Hypochloraemia
Hypokalaemia
elevated bicarb
what are 5 causes of obesity in children?
downs syndrome
prader-willi syndrome
growth hormone deficiency
hypothyroid
cushings syndrome
what are 5 consequences of obesity in children?
Ortho - SUFE, MSK Pains, Blounts disease
Psycho - bullying, low self esteem
sleep apnoea
benign intracranial hypertension
long term - T2DM, hypertension, IHD
what is the management for infantile spasms?
Prednisolone
Vigabatrin
what inheritance pattern is there in achondropasia?
autosomal dominant
what mutation causes achondroplasia?
mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene
what are 5 features of achondroplasia?
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands - gap between middle and ring finger
lumbar lordosis
what is the management of asthma <5 years?
SABA
+ ICS for 8 weeks
+ leukotriene receptor antagonist (LTRA)
refer to secondary care
what is a paeds ICS low dose?
<200 micrograms
what is a paeds ICS high dose?
> 400 micrograms
what are 2 conditions associated with hypospadias?
cryptorchidism
inguinal hernia
what is a venous hum?
innocent murmur heard just below clavicles of blood returning to heart
what is stills murmour?
innocent murmur of Low-pitched sound heard at the lower left sternal edge
what are 8 features of innocent murmurs?
soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
may vary with posture
localised with no radiation
no diastolic component
no thrill
no added sounds (e.g. clicks)
asymptomatic child
no other abnormality
what is the management of asymptomatic neonatal hypoglycaemia?
encourage feeding + monitor
what is the management of symptomatic neonatal hypoglycaemia?
SCBU
IV 10% dextrose
Is perthes usually unilateral or bilateral?
unilateral - only bilateral 10% of time
How is perthes disease diagnosed?
Bilateral hip X-rays
what vaccines are given at 8 weeks?
6 in 1 (DTaP, IPV, Hib, Hep B),
Men B
Rotavirus
what vaccines are given at 12 weeks?
6 in 1 (DTaP, IPV, Hib, Hep B)
Pneumococcal
Rotavirus
what vaccines are given at 16 weeks?
6in1(DTaP,IPV,Hib,HepB)
MenB.
what vaccines are given at 1 year?
Hib/Men C
Pneumococcal booster
MMR
Men B booster.
what vaccines are given at 3 years (4 months)?
DTap/IPV - Diptheria, Tetenus, Petussus, Polio
MMR.
what vaccine is given at 12-13 years?
HPV
what vaccines are given at 14 years?
Tetanus, diphtheria, polio
Men ACWY.
what is in the 6 in 1 vaccine?
Diphtheria
Tetanus
Pertussis
Hib
Hepatitis B
Inactivated Polio Vaccine
when is the 6 in 1 vaccine given?
8, 12 and 16 weeks
when is the MMR vaccine given?
12 months and 3 years
When is the rotavirus vaccine given?
8 and 12 weeks
when is the men B vaccine given?
8 and 16 weeks
booster at 1 year
what are the two main sanctuary sites for leukaemia?
CNS
Testes
most likely to have secondary malignancies
what is DiGeorge syndrome and it’s features?
22q11.2 deletion
congenital heart disease (e.g. tetralogy of Fallot), learning difficulties, hypocalcaemia, recurrent viral/fungal diseases, cleft palate
what is the name of deep rapid breathing in acidosis to rid body of CO2?
kassmaul breathing - seen in DKA
what is benign rolandic epilepsy?
twitching numbness or tingling episodes usually at night or when tired between ages of 4-12 years
Can develop to tonic clonic
child otherwise normal and has normal prognosis
EEG has centrotemporal spikes
When does neonatal hypoglycaemia require treatment?
if symptomatic or BM <1 mmol/L
what is the mangement of neonatal hypoglycaemia?
2.5 mg/Kg 10% dextrose
what is the management of foecal impaction?
1 - macrogol laxative (movicol)
2 - senna if doesnt work after 1 week
use lactulose if macrogol isn’t tolerate
what surgery is done in Hirschprungs?
Swensen’s procedure
what is the most common cause of convergent squint?
hypermetropia (long sightedness)
what extra feature is present in pentalogy of Fallot?
ASD
what is a discoid meniscus?
A developmental abnormality causing a disc shaped meniscus usually on the lateral side
what is the presentation of discoid meniscus?
locking or popping of knee along with pain and swelling
what is the management of discoid meniscus?
arthroscopic partial meniscectomy
what are 8 medications that can cause neonatal abstinence syndrome?
Opioids
methadone
benzos
cocaine
amphetamines
nicotine or cannabis
alcohol
SSRIs/Antidepressants
when does opioid, diazepam, SSRI and alcohol withdrawal occur in neonates?
3-72 hours after birth
when does methadone and longer acting benzos withdrawal occur in neonates?
24 hours - 21 days
what are 6 CNS signs of neonatal abstinence syndrome?
Irritability
increased tone
high pitched cry
not settling
tremors
seizures
what are 4 vasomotor and resp symptoms of abstinence syndrome?
yawning
sweating
unstable temp
tachypnoea
what are 4 metabolic manifestations of abstinence syndrome?
poor feeding
regurg and vomiting
hypoglycaemia
loose stools and sore nappy area
what are 2 oral treatments that can be given for abstinence syndrome?
opioid withdrawal - oral morphine sulphate
non-opiate withdrawal - phenobarbitone
what most common bowel atresia?
jejunoileal atresia
what are 8 causes of intestinal obstruction in children?
meconium ileus
hirschprungs disease
oesophageal atresia
duodenal atresia
intusseption
imperforate anus
malrotation of intestines - volvulus
strangulated hernia
what are 3 neutrophil disorders that can cause primary immunodeficiency?
chronic granulomatous disease
chediak-higashi syndrome
leukocyte adhesion deficiency
what are 3 beta cell disorders leading to primary immunodeficiency?
Common variable immunodeficiency
Bruton’s congenital agammaglbulinaemia
selective immunoglobulin A deficiency
what T cell disorder can cause primary immunodeficiency?
DiGeorge syndrome
what are 4 combined B and T cell disorders that can cause primary immunodeficiency?
severe combined immunodeficiency
ataxic telangiectasia
wiskott-aldrich syndrome
Hyper IgM syndromes
