Paediatrics Flashcards
What is the purpose of the newborn examination? When is it carried out?
Must be performed within first 72 hours after birth
Purpose:
Screen for congenital abnormalities that will benefit from early intervention
Make referrals for further tests or treatment as appropriate
Provide reassurance to parents
List the components of the newborn examination
- Undress to nappy
- History from parents - pregnancy, delivery, risk factors, scans, family history, newborn feeding, urination, passing meconium
- Weight - plot on weight chart
- General inspection -
Colour - pallor, cyanosis, jaundice
Posture - hemiparesis, Erb’s palsy
Tone - hypotonic (Down’s, neuromuscular disorder etc.) - Head
Circumference - plot on chart
Shape - moulding, caput succedaneum, cephalhaematoma, subgaleal haemorrhages, craniosynostosis
Fontanelles - anterior - Skin
Birthmarks, bruising/lacerations from birth trauma - important to document in case of child protection concerns in the future
Birthmarks e.g. salmon patch, haemangiomas, port-wine stain
Vernix
Other skin findings - slate-grey navus, milia, erythema toxicum, neonatal jaundice - Face
Appearance - dysmorphic features
Asymmetry e.g. facial nerve palsy from delivery
Trauma
Nose - will cause respiratory distress if nasal passages not patent
Eyes - erythema, discharge, discolouration of sclera, position and shape of eyes
Fundal reflex
Ears - pinna, hearing screening test
Mouth and palate - clefts, tongue-tie - Neck and clavicles
Length, webbing
Lumps
Clavicular fracture - Upper limbs
Symmetry
Fingers
Palms - should have two palmar creases
Brachial pulse - abnormality of aorta - Chest
Respiratory rate
Work of breathing
Chest wall abnormalities
Auscultate lungs and heart
Pulse oximetry - preductal and postductal saturations - Abdomen
Distension
Umbilicus
Inguinal hernia
Palpate - liver, spleen, kidneys, bladder - Genitalia
Male - urethral meatus position, size of penis, testicular swelling, palpate scrotum for testes
Females - labia, clitoris, vaginal discharge - Lower limbs
Asymmetry
Oedema
Ankle deformities - talipes (club foot)
Missing digits
Tone
Range of knee joint movement
Femoral pulses
Hips - Barlow’s and Ortolani’s tests - Back and spine
Scoliosis
Hair tufts
Naevi
Sacral pits - Anus
Patency
Meconium - should be passed within 24 hours - Reflexes
Palmar grasp reflex
Sucking reflex
Rooting reflex - turn head towards stroking cheek/mouth
Stepping reflex - when feet touch flat surface will appear to walk
Moro - hold up then drop back, causes extension of arms and legs then flexion, cries
What is hypoxic ischaemic encephalopathy? What causes it?
Condition which occurs in neonates due to hypoxia during birth, resulting in ischaemic brain injury
Causes e.g.
Maternal shock
Intrapartum haemorrhage
Prolapsed cord
Nuchal cord
How does hypoxic ischaemic encephalopathy present/when should it be suspected? Describe the grading and prognosis for each grade.
Suspect in neonates when there has been events which could lead to hypoxia during perinatal/intrapartum period, acidosis on umbilical artery blood gas, poor Apgar scores
Features - Sarnat Staging
Mild - poor feeding, irritable, hyper-alert, resolves within 24 hours, normal prognosis
Moderate - poor feeding, lethargic, hypotonic, seizures, can take weeks to resolve, 40% develop cerebral palsy
Severe - reduced consciousness, apnoeas, flaccid and reduced or absent reflexes, up to 50% mortality, up to 90% develop cerebral palsy
How is hypoxic ischaemic encephalopathy managed?
Supportive care, neonatal resuscitation
Management of complications e.g. ventilatory support, seizures
Therapeutic hypothermia - cooling in neonatal ICU for 72 hours, reduce inflammation and neurone loss
Follow-up by paediatrician and MDT
Define caput succedaneum.
What causes it/what are risk factors for it?
How does it present?
How is it managed?
Oedema of scalp, outside the periosteum
Crosses sutures
Mild or no discolouration of skin
Causes by pressure to scalp during prolonged, traumatic or instrumental delivery
Usually resolves within a few days, no treatment required
Define cephalohaematoma
What causes it/risk factors for it?
How does it present?
How is it managed?
What are the potential complications?
Collection of blood between skull and periosteum
Does not cross suture lines
Causes discolouration of skin
Caused by damage to blood vessels during traumatic, prolonged or instrumental delivery
Usually resolves without treatment within a few months
Risk of anaemia and jaundice due to blood breakdown - monitor for these complications and for resolution
How can caput succedaneum and cephalohaematoma in a neonate be distinguished?
Caput - crosses suture lines, no skin discolouration
Cephalohaematoma - doesn’t cross suture lines, skin discoloured
How is facial palsy in a neonate managed?
Usually resolves spontaneously within a few months, if not requires neuro input
Define Erb’s palsy
Describe the aetiology/risk factors for Erb’s palsy
Describe the appearance of Erb’s palsy
How is Erb’s palsy managed?
Injury to C5/6 nerves of brachial plexus during birth
Associated with shoulder dystocia, traumatic or instrumental delivery and large birth weight
Leads to weakness of shoulder abduction and external rotation, arm flexion and finger extension
Leads to ‘waiters tip’ appearance:
Internally rotated shoulder, extended elbow, flexed pronated wrist, lack of movement in affected arm
Function normally returns spontaneously, if not need neuro input
Describe the aetiology/risk factors for clavicle fracture in the neonate
Presentation of clavicle fracture in the neonate
Diagnosis
Management
Complications
Fractured during birth - shoulder dystocia, traumatic or instrumental delivery, large birth weight
Usually picked up during newborn examination with - lack of movement, asymmetry of arms/shoulders (affected shoulder lower), pain and distress on arm movement
Can be confirmed with US/X-ray
Conservative management -
?immobilisation of affected arm
Complication - brachial plexus injury with nerve palsy
List the most common birth injuries which neonates can present with
Caput succedaneum
Cephalohaematoma
Facial palsy
Erb’s palsy
Clavicle fracture
What causes haemolytic disease of the newborn?
Rhesus incompatibility - rhesus D negative mother and rhesus D positive fetus
Previous sensitisation means mother produces anti-D antibodies, cross placenta and cause haemolysis of fetal RBCs
How does haemolytic disease of the newborn present?
Mild - anaemia (pallor, tachycardia, tachypnoea), hyperbilirubinaemia, jaundice
Severe - severe anaemia, jaundice, hepatomegaly, splenomegaly, kernicterus, oedema (hydrops), respiratory distress
How is haemolytic disease of the newborn managed?
Blood transfusion for severe anaemia
IV fluids
Respiratory support
Exchange transfusion - lower bilirubin levels
IV immunoglobulins
Prevention - anti-D given at any sensitisation events/after previous births
What is breast milk jaundice?
What causes it?
How does it present?
How is it managed?
Jaundice in breastfed neonates
Typically presents in 1st/2nd week of life, usually spontaneously resolves without discontinuation of breastfeeding, can persist for 8-12 weeks
Aetiology not completely understood - components of breast milk inhibit liver’s conjugation of bilirubin, breastfed babies more likely to become dehydrated if inadequate feeding, slow passage of stools
Encourage to keep breastfeeding, give breastfeeding advice and support
Describe the aetiology of newborn jaundice
Hyperbilirubinaemia - breakdown of red blood cells produces unconjugated bilirubin, conjugated in the liver
Conjugated bilirubin excreted via biliary system into GI tract and urine
Neonatal jaundice due to increased production of bilirubin or decreased clearance of bilirubin
List causes of neonatal jaundice
Increased production of bilirubin:
Haemolytic disease of the newborn
ABO incompatibility
Haemorrhage
Intraventricular haemorrhage
Cephalo-haematoma
Polycythaemia
Sepsis and disseminated intravascular coagulation
G6PD deficiency
Decreased clearance of bilirubin:
Prematurity
Breast milk jaundice
Neonatal cholestasis
Extra-hepatic biliary atresia
Endocrine disorders (hypothyroid and hypopituitary)
Gilbert syndrome
How should a newborn with jaundice be assessed?
FBC and blood film for polycythaemia or anaemia
Conjugated bilirubin - hepatobiliary cause
Blood type testing of mother and baby for ABO rhesus incompatibility
Direct Coombs test for haemolysis
Thyroid function
Blood and urine cultures if infection suspected
Glucose-6-phosphate-dehydrogenase levels for G6PD deficiency
LFTs if suspect hepatobiliary disorder
U&Es if excessive weight loss/dehydrated
Jaundice in first 24 hours of life is pathological - need urgent investigation and management
Most serious cause is neonatal sepsis - need to treat for sepsis if any other clinical features or risk factors
Define physiological jaundice in the neonate and describe its aetiology
Describe its presentation
How is it managed?
Jaundice in a healthy baby, born at term
May be due to:
Increased red blood cell breakdown - fetus has high concentration of Hb in utero (to maximise oxygen exchange and delivery to fetus), breaks down at birth releasing bilirubin
Immature liver not able to process high bilirubin concentrations
Starts on day 2/3 of life, usually resolves by day 10
Usually requires no intervention
Define prolonged jaundice
What is done in prolonged jaundice?
What can cause it?
> 14 days in full term babies
21 days in premature babies
Should investigate further to look for underlying cause
Causes of jaundice which persist after initial neonatal period - biliary atresia, hypothyroidism, G6PD deficiency
List risk factors for neonatal jaundice
Prematurity
Low birth weight
Small for dates
Previous sibling required phototherapy
Exclusively breast fed
Jaundice <24 hours
Infant of diabetic mother
How is neonatal jaundice managed?
Total bilirubin levels monitored and plotted on treatment threshold charts - age of baby on x-axis and total bilirubin level on y-axis
If total bilirubin level reaches threshold need to be commenced on treatment to lower bilirubin level
Phototherapy - converts unconjugated bilirubin into isomers that can be excreted in bile and urine without requiring conjugation in liver
Eye patches used to protect eyes
Light box with blue light used (little/no UV light)
Monitor bilirubin during treatment
Exchange transfusions used if extremely high levels of bilirubin - remove neonate blood and replace with donor blood
IV immunoglobulin in rhesus disease or ABO haemolytic disease
What is kernicterus?
How does it present?
Brain damage due to excessive bilirubin levels
Bilirubin crosses blood-brain barrier, causes damage to brain
Less responsive, floppy, drowsy baby with poor feeding
Causes cerebral palsy, learning disability and deafness
What is kernicterus?
How does it present?
What are the potential complications?
Brain damage due to excessive bilirubin levels
Bilirubin crosses blood-brain barrier, causes damage to brain
Less responsive, floppy, drowsy baby with poor feeding
Causes cerebral palsy, learning disability and deafness
Define biliary atresia
What are the consequences of biliary atresia?
Congenital condition, section of bile duct is narrowed or absent
Results in cholestasis, prevents excretion of conjugated bilirubin
Causes persistent neonatal jaundice
Define biliary atresia
What are the consequences of biliary atresia?
Congenital condition, section of bile duct is narrowed or absent
Results in cholestasis, prevents excretion of conjugated bilirubin
Causes persistent neonatal jaundice
How is biliary atresia diagnosed and managed?
Suspect if persistent neonatal jaundice (>14 days if full-term, >21 days if premature)
Diagnose by measuring conjugated and unconjugated bilirubin - high proportion of conjugated bilirubin
Management - surgery
Kasai portoenterostomy - attach section of small intestine to opening of liver, where bile duct normally attaches
List the complications associated with prematurity - short and long-term
Immediate:
Respiratory distress syndrome
Hypothermia
Hypoglycaemia
Poor feeding
Apnoea
Bradycardia
Neonatal jaundice
Intraventricular haemorrhage
Retinopathy of prematurity
Necrotising enterocolitis
Immature immune system and infection
Long term:
Chronic lung disease of prematurity
Learning and behavioural difficulties
Susceptibility to infections, particularly respiratory tract infections
Hearing and visual impairment
Cerebral palsy
How does pneumothorax present in a neonate?
Can be asymptomatic
Tachypnoea
Extra noises with breathing - grunting
Cyanosis
Asymmetrical chest expansion
Respiratory distress
Hypotension
Reduced air entry
What causes pneumothorax in newborns?
Respiratory distress syndrome - prematurity
Meconium aspiration syndrome
Use of CPAP or ventilation
Persistent pulmonary hypertension
Spontaneous in neonate with no underlying disorder
How is pneumothorax in the newborn diagnosed and managed?
Positive transillumination - free air around lung
Confirmed with CXR
Treatment:
Oxygen
Aspiration of air with needle and syringe
Chest drain if serious respiratory distress
List causes of respiratory distress in the neonate
Transient tachypnoea of the newborn (1st 8 hours)
Respiratory distress syndrome (surfactant deficiency)
Meconium aspiration
Pneumothorax
Respiratory Infection
Chronic lung disease
Bronchopulmonary dysplasia
List common pathogenic causes of neonatal sepsis
Group B strep
E Coli
Listeria
Klebsiella
Staph aureus
List risk factors for neonatal sepsis
Vaginal group B strep colonisation
Group B strep sepsis in previous baby
Maternal sepsis, chorioamnionitis or fever >38
Prematurity (<37 weeks)
Premature rupture of membranes
Prolonged rupture of membranes
Describe the clinical presentation of neonatal sepsis
Altered behaviour or responsiveness
Altered muscle tone - floppiness
Feeding difficulties
Feed intolerance - vomiting, gastric aspirates, abdominal distension
Abnormal heart rate - bradycardia or tachycardia
Signs of respiratory distress - starting >4 hours after birth
Hypoxia - cyanosis, reduced sats
Jaundice within 24 hours of birth
Apnoea
Signs of neonatal encephalopathy
Seizures
Need for cardio-pulmonary resuscitation
Need for mechanical ventilation (especially in a term baby)
Persistent pulmonary hypertension
Temperature abnormality - <36 or >38
Signs of shock
Unexplained excessive bleeding, thrombocytopaenia, abnormal coagulation
Oliguria >24 hours after birth
Altered glucose haemostasis - hypoglycaemia or hyperglycaemia
Metabolic acidosis
Local signs of infection - skin, eye
List red flag symptoms/signs of neonatal sepsis
Confirmed or suspected sepsis in mother
Signs of shock
Seizures
Term baby needing mechanical ventilation
Respiratory distress >4 hours after birth
Suspected or confirmed infection in a co-twin
What is the differential diagnosis of neonatal sepsis?
Transient tachypnoea of the newborn
Surfactant deficient lung disease/respiratory distress syndrome
Meconium aspiration
Haemolytic disease of the newborn
Bacterial meningitis
Urinary tract infection
How should neonatal sepsis be investigated?
FBC
CRP
Blood cultures
If obvious source - relevant swabs/cultures
LP if suspicion of meningitis
How is neonatal sepsis managed?
One risk factor or clinical feature - monitor observations and clinical condition for 12 hours
Two or more risk factors or clinical features - start antibiotics
One red flag - start antibiotics
Take blood cultures before giving antibiotics
Antibiotics - IV benzylpenicillin with gentamicin
Consider stopping antibiotics if baby clinically well, blood cultures are negative and CRP results are normal
If blood cultures positive - antibiotics for 7-10 days, up to 14 if LP positive
Define early and late onset neonatal sepsis
Early onset - within first 48-72 hours of life
Late onset - >72 hours of life
What is meconium?
Dark green, sticky, lumpy faecal material produced during pregnancy
Usually released from bowels after birth
Can be passed in utero - causing aspiration
Describe the pathophysiology of meconium aspiration syndrome
Caused by in-utero peristalsis - due to foetal hypoxic stress or vagal stimulation due to cord compression
Stimulates release of vasoactive and cytokine substances that activate inflammatory pathways, inhibits effect of surfactant in the lungs
Causes airway obstruction, fetal hypoxia, pulmonary inflammation, infection/pneumonitis, surfactant inactivation, persistent pulmonary hypertension
List risk factors for meconium aspiration syndrome
Gestational age >42 weeks
Fetal distress - tachycardia/bradycardia
Intrapartum hypoxia secondary to placental insufficiency
Thick meconium
Apgar score <7
Chorioamnioitis +/- prolonged pre-rupture
Oligohydramnios
In utero growth restriction
Maternal hypertension, diabetes, pre-eclampsia, smoking, drug abuse
Describe the clinical presentation of meconium aspiration syndrome
Tachypnoea
Tachycardia
Cyanosis
Grunting
Nasal flaring
Recessions - intercostal, supraclavicular, tracheal tug
Hypotension
How is meconium aspiration syndrome diagnosed?
Clinical diagnosis - difficult as overlaps with many other conditions
Investigations:
CXR
Infection markers - FBC, CRP, blood cultures
ABG
Dual pulse oximetry
Echo
Cranial US
Describe the signs of meconium aspiration syndrome on CXR
Increased lung volumes
Asymmetrical patchy pulmonary opacities
Pleural effusions
Pneumothorax or pneumomediastinum
Multifocal consolidation – due to chemical pneumoniti
What does this X-ray show?
Bilateral asymmetric opacifications
Meconium aspiration syndrome in neonate
How is meconium aspiration syndrome managed?
Observation - for respiratory distress, oxygen saturations
Routine care - warming, nutritional support with IV fluids, switch to NG and oral feeds when able
Ventilation/oxygen therapy - nasal cannula if respiratory distress, CPAP if less severe, can be intubated and mechanically ventilated if not responding
Antibiotics - if clinical suspicion of infection
Surfactant - if moderate MAS or pneumothorax present, can carry out lung lavage with surfactant if severe
Inhaled nitric oxide - to manage concurrent pulmonary hypertension, investigate for right-to-left shunts
Corticosteroids - not recommended
List potential complications of meconium aspiration syndrome
Air leak - pneumothorax or pneumomediastinum, presents with compromised pulmonary or cardiac function
Persistent pulmonary hypertension of the neonate - can be result, complication or differential diagnosis for MAS
Cerebral palsy - can cause cerebral hypoxia
Chronic lung disease
Death
What is the commonest cause of respiratory distress in a neonate?
Transient tachypnoea of the newborn
When does transient tachypnoea of the newborn present and how long does it last?
Presents in first 8 hours, lasts 1-2 days
List risk factors for transient tachypnoea of the newborn
Prematurity
Caesarean section - fluid not pushed out of lungs by passage through vaginal canal
How is transient tachypnoea of the newborn managed?
Observation, supportive care
Supplementary oxygen if required to maintain saturations
Describe the presentation of biliary atresia
Jaundice and cholestasis in first few weeks of life - persists >2 weeks
Hepatomegaly and splenomegaly
Abnormal growth
What are the potential complications of biliary atresia?
Unsuccessful anastomosis formation
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
May need liver transplantation in first few weeks of life if management unsuccessful
Describe the pathophysiology of respiratory distress syndrome in neonates
Occurs in premature neonates (<32 weeks) due to inadequate surfactant and therefore high surface tension within alveoli –> atelectasis
Inadequate gaseous exchange - hypoxia, hypercapnia and respiratory distress
How is neonatal respiratory distress syndrome managed?
Antenatal steroids if suspected or confirmed pre-term labour - increases production of surfactant, reduces incidence and severity of respiratory distress syndrome
May need:
Intubation and ventilation
Endotracheal surfactant - artificial surfactant delivered to lungs via endotracheal tube
Continuous positive airway pressure (CPAP) to keep lungs inflated while breathing
Supplementary oxygen to maintain sats
List short and long-term complications of neonatal respiratory distress syndrome
Short-term:
Pneumothorax
Infection
Apnoea
Intraventricular haemorrhage
Pulmonary haemorrhage
Necrotising enterocolitis
Long-term
Chronic lung disease of prematurity
Retinopathy of prematurity - more common/severe
Neurological, hearing and visual impairment
Define neonatal apnoea
Absence of breathing in a neonate for a period of >15 seconds often associated with bradycardia and/or desaturation
What causes neonatal apnoea?
Apnoea of prematurity - immaturity of respiratory centre in brain, onset during day 1-7 of life
Airway obstruction
Drugs - opiates, general anaesthetic
Sepsis
Metabolic - hypoglycaemia, hypothermia, hyperthermia
Pain
Respiratory - atelectasis, phrenic nerve paralysis (can occur during birth), pneumothorax, aspiration
Cardiovascular - cardiac failure
CNS - seizures, neuromuscular disorders
How is neonatal aspiration/bradycardia?
Usually resolve spontaneously
Gentle tactile stimulation can help
If no response and cyanotic may need bag mask ventilation
Suction mouth and nostrils is necessary
Can use CPAP
BLS pathway if doesn’t resolve
Define hypothermia in the neonate
Core temperature <36.5
What causes hypothermia in the neonate?
Environmental - bare, wet skin exposed to cool environment
Disorders which impair thermoregulation - sepsis, drug withdrawal, prematurity
Newborns are prone to rapid heat loss and hypothermia due to high surface area to body mass ratio, low subcutaneous fat, immature skin, poorly developed metabolic mechanisms and altered skin blood flow
How is hypothermia in neonates managed/prevented?
Rewarming in an incubator or under a radiant warmer
Monitoring for hypoglycaemia, hypoxia, apnoea
Treatment of underlying conditions e.g. sepsis
Prevention:
Maintain appropriate environmental temperature - 25-28 degrees room temperature
Immediately dry and place in skin-to-skin contact with mother, wear hat
If preterm can place in polyethylene bag
Define neonatal hypoglycaemia
Plasma glucose concentration of <2.5mmol/L
<3mmol/L in those with suspected hyperinsulinaemia in the first 48 hours
How does hypoglycaemia in a neonate present?
Hypotonia
Lethargy
Poor feeding or other abnormal feeding behaviours
Hypothermia
Apnoea
Irritability
Pallor
Tachypnoea
Tachycardia or bradycardia
Seizures
Which neonates should have blood glucose monitoring and treatment?
Signs/symptoms of hypoglycaemia
Risk factors for hypoglycaemia
Pre-term - born at 34-36+6 weeks
How should blood glucose be tested in a neonate?
Blood gas analysis is gold standard method
Near-patient testing not accurate at low blood glucose levels (<2)
List risk factors for neonatal hypoglycaemia
Intrauterine growth restriction in term infants
Born at <37 weeks gestation regardless of weight centile
Maternal diabetes - both pre-existing and gestational
Macrosomic babies - >4.5kg
Infants of mothers taking B-blockers in 3rd trimester
Hypothermia
Hypoxia - prolonged resuscitation or cord pH <7.1
How is neonatal hypoglycaemia prevented?
Prevent hypothermia - dry at birth, cover, put a hat on, avoid bathing for first 24 hours, skin-to-skin
First feed within first 60 minutes, or hand express colostrum and give to baby
Blood glucose monitoring and clinical surveillance
Encourage effective ongoing feeding - responsive feeding if baby alert or proactive if sleepy
How is neonatal hypoglycaemia managed?
Pre-feed BM 2-2.5mmol/L and no clinical signs
Additional feed, give frequent feeds at least 3 hourly
Pre-feed BM 1-1.9 and no clinical signs
Involve neonatal doctor
40% buccal glucose 200mg/kg, wait 30-60 minutes and check again, give second dose if needed
Continue feeding
Pre-feed BM <1 or clinical signs
Involve neonatal doctor
Investigations for hypoglycaemia
IV 10% glucose or IM glucagon followed by IV glucose
Recheck 30 minutes later - increase IV glucose or wean off depending on results
Continue breastfeeding until too unwell
How is apnoea of prematurity prevented?
Caffeine citrate - given to babies <30 weeks gestation within 2 hours of birth until 33 weeks
Define persistent pulmonary hypertension of the newborn and describe its pathophysiology
Failure in the systemic and pulmonary circulation to convert from the antenatal circulation pattern to the normal pattern
Pulmonary hypertension is normal for fetus due to high pulmonary vascular resistance - oxygen delivery from placenta not lungs, most of right ventricular output crosses the ductus arteriosus to the aorta so high pressure in pulmonary vessels to prevent blood going to lungs
Pulmonary vascular resistance drops at birth - allows blood to circulate through lungs and back to heart
When normal cardiopulmonary transition fails to occur it results in persistent pulmonary hypertension - causes extrapulmonary shunting of blood through usually still patient ductus arteriosis and hypoxaemia
List causes of persistent pulmonary hypertension in the neonate
Normal vascular anatomy with functional vasoconstriction due to - hypoxia, meconium aspiration, respiratory distress syndrome (good prognosis)
Decreased diameter of pulmonary vessels and hypertrophy of vessel walls - post-term, placental insufficiency, NSAID use by mother (poor prognosis)
Decreased size of pulmonary vascular bed - pleural effusion, diaphragmatic hernias (poor prognosis)
Functional obstruction of pulmonary blood flow - polycythaemia, hyperfibrinogenaemia (good prognosis if reversible)
How is persistent pulmonary hypertension of the neonate diagnosed and managed?
Diagnosis -
Echo
ECG
Blood gases - high partial pressures of oxygen and CO2
Pre- and post-ductal oxygen saturations - gradient of >10% between pre- and post-
Management
Oxygen therapy
Mechanical ventilation
Pulmonary vasodilators - inhaled nitrous oxide, sildenafil, milrinone
Steroids
Surfactant instillation
ECMO
Maintain normal temperature, electrolytes, glucose, intravascular volume
How does persistent pulmonary hypertension of the neonate present?
Cyanosis
Respiratory distress
Tachypnoea
Tachycardia
Grunting
Retractions
When does the ductus arteriosus usually close? How does this happen?
Usually stops functioning within 1-3 days of life (usually in first 24 hours in term babies) and closes completely in first 2-3 weeks
Increasing arterial PaO2 + decreasing prostaglandin levels from the placenta and secretion of bradykinin by the lung interstitium causes circular smooth muscle contraction in the wall of the ductus arteriosus, eventually ischaemia of vessel wall and necrosis –> becomes ligamentum arteriosus
Describe the pathophysiology of symptoms in patent ductus arteriosus
Higher pressure in aorta than pulmonary vessels, blood flows from aorta to pulmonary vessels = left to right shunt
Increases pressure in pulmonary vessels causing pulmonary hypertension, right heart strain and right ventricular hypertrophy
Also back flow of blood into left side of heart leading to left ventricular hypertrophy
Decreased systemic blood flow - reduced blood to brain, GI tract, kidneys
How does patent ductus arteriosus present?
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
Bounding pulses
Wide pulse pressure
Hypotension
Renal impairment
Murmur heard on newborn examination - may not be heard if small patent ductus arteriosus, more significant cause continuous crescendo-decrescendo ‘machinery’ murmur which continues during second heart sound, making it difficult to hear
How is patent ductus arteriosus diagnosed?
CXR - enlarged heart, bilateral lung field haziness associated with pulmonary oedema, air bronchograms
Echo with doppler - left to right shunt, changes to heart e.g. right and/or left ventricular hypertrophy
How is patent ductus arteriosus managed?
If asymptomatic and no evidence of heart failure - monitored until 1 year old using echo, after 1 year highly unlikely to close spontaneously, need intervention for closure
If symptomatic neonatally/evidence of large shunt on ECHO -
COX inhibitors e.g. ibuprofen, indomethacin, reduced efficacy with time
NIV, mechanical ventilation
Don’t give steroids with COX inhibitors due to risk of spontaneous intestinal perforation
Surgical management -
PDA ligation, >3 weeks old due to risk of adverse events before
What is the differential diagnosis for a term infant presenting with seizures?
CNS infection - group B strep, E. coli, herpes simplex encephalitis
Birth trauma - subarachnoid or subdural haemorrhages, associated with ventouse extraction/instrumental deliveries
Inborn errors of metabolism e.g. pyridoxine deficiency
Hypoglycaemia
Opiate withdrawal
CNS malformation
Benign familial neonatal convulsions
Cerebral artery infarction
List causes of brain injury in the preterm newborn
Hypoxia-ischaemia
Maternal fetal infection
Drug exposure
Postnatal sepsis
Inflammation
Intraventricular haemorrhage
How is preterm brain injury managed?
Regular surveillance with cranial ultrasound scanning
Administration of anti-epileptic drugs if seizures - phenobarbital and phenytoin
Referral to neurosurgical team if needed
Long-term neurodevelopmental follow-up and support as necessary
Which babies are affected by retinopathy of prematurity?
<32 weeks gestation, low birth weight
Describe the pathophysiology of retinopathy of prematurity
Retinal blood vessel development starts at 16 weeks gestation, complete by 37-40 weeks
Vessel formation stimulated by hypoxia of the retina during pregnancy, when retina is exposed to higher oxygen concentrations the stimulus is removed
When hypoxic environment recurs, retina responds by producing excessive blood vessels (neovascularisation) and scar tissue - abnormal blood vessels can regress and leave retina without blood supply, scar tissue can cause retinal detachment
Describe the screening for retinopathy of prematurity
<32 weeks or under 1.5kg should be screened
Done at 30-31 weeks gestational age in babies born before 27 weeks or 4-5 weeks old in babies born after 27 weeks
Screening by ophthalmologist done every two weeks, can cease once retinal vessels have reached the outer zone of the retina, usually around 36 weeks gestational age
How is retinopathy of prematurity managed?
Transpupillary laser photocoagulation to halt and reverse neovascularisation - 1st line
Other options - cryotherapy, injections of intravitreal VEGF inhibitors
Surgery if retinal detachment
List risk factors for necrotising enterocolitis
Prematurity or very low birth weight
Formula feeding - breastfeeding is protective
Intrauterine growth restriction
Polycythaemia
Exchange transfusion
Hypoxia
Respiratory distress and assisted ventilation
Sepsis
Patient ductus arteriosus and other congenital heart disease
Antibiotic treatment
Describe the clinical presentation of necrotising enterocolitis
Feeding intolerance
Vomiting - bile or blood stained
Abdominal distension
Haematochezia
Abdominal tenderness
Abdominal oedema
Erythema
Palpable bowel loops
Systemically unwell - letharygy, bradycardia/tachycardia, shock
How is necrotising enterocolitis diagnosed?
Abdominal X-ray
Distended bowel loops
Oedema - thickened bowel wall
Intramural gas - pneumatosis intestinalis
Pneumoperitoneum - perforation
Gas in portal vein
Other investigations
FBC (anaemia, thrombocytopaenia, leukopaenia/leukocytosis), CRP, capillary blood gas (metabolic acidosis), blood cultures, U&Es (hyponatraemia)
Describe the scoring system for necrotising enterocolitis
Bell scoring system - based on clinical features and abdominal X-ray
Stage 1 - suspected NEC
Bowel distension only on AXR
Systemically unwell and abdominal symptoms but not severe with blood gas abnormalities etc.
Stage 2 - definite NEC
Distension, pneumatosis intestinalis on AXR
Stage 1 plus metabolic acidosis, thrombocytopaenia, abdominal tenderness, absent bowel signs
Stage 3 - advanced NEC
Stage II plus pneumoperitoneum on AXR
Severe acidosis, electrolyte abnormalities, marked GI bleeding
How is necrotising enterocolitis prevented in premature infants?
Prophylactic antenatal steroids
Breastfeeding
?Probiotics
How is necrotising enterocolitis managed?
Medical management - Bell stage I and II
Nil by mouth - withhold oral feeds for 10-14 days, replace with parenteral nutrition
NG tube insertion to drain fluid and gas
IV antibiotics for 10-14 days
Systemic support - ventilatory support, fluid resuscitation, correction of acid-base balance/coagulopathy/thrombocytopaenia
Surgical management
Indications - perforation, GI obstruction secondary to stricture formation, deterioration despite medical management
Most common procedure is intestinal resection with stoma formation, can also do primary anastomosis, stoma formation without resection, clip and drop with resection
List the potential complications of necrotising enterocolitis
Short-term:
Bowel perforation
Sepsis
Death
DIC
Long-term:
Intestinal stricture
Short-bowel syndrome
Neurodevelopmental disorders
NEC recurrence
Long-term need for stoma
Abscess formation
Describe the clinical presentation of chronic lung disease of prematurity
Low oxygen sats
Increased work of breathing
Poor feeding and weight gain
Crackles and wheezes on chest auscultation
Increased susceptibility to infection
Define chronic lung disease of prematurity and describe its consequences
Aka bronchopulmonary dysplasia
Lung dysfunction in premature babies, typically those born before 28 weeks
Causes respiratory distress syndrome and oxygen or intubation and ventilation requirement - persists past 36 weeks
How is chronic lung disease of prematurity diagnosed?
Requirement for oxygen therapy/intubation after 36 weeks gestational age in premature baby
CXR changes
How is chronic lung disease of prematurity prevented/managed?
Prevention:
Give steroids antenatally in suspected/confirmed pre-term labour, <36 weeks
Once born use CPAP rather than intubation and ventilation when possible, give caffeine, don’t over-oxygenate
Management:
Sleep study to assess saturations during sleep
May be discharged on oxygen - wean during 1st year of life
Require RSV protection - monthly palivizumab, prevent bronchiolitis
List the important congenital abnormalities which should be identified at the newborn baby check
Face/head:
Dysmorphic facial features e.g. Down’s
Microcephaly/macrocephaly
Congenital cataracts, retinal detachment, retinoblastoma
Clefts
Tongue-tie (ankyloglossia)
Shoulders and arms:
Erb’s palsy
Number and morphology of digits
Single palmar crease - ?Down’s
Chest:
Pectus excavatum or carinatum
Murmurs
Abdomen/groin:
Diaphragmatic hernia
Polycystic kidney disease
Inguinal hernia
Hypospadia/epispadia
Cryptorchidism
Fused labia
Patency of anus
Lower limbs:
Developmental dysplasia of the hip
Talipes equinovarus
Number and morphology of digits
Back and spine:
Neural tube defects
Scoliosis
Define oesophageal atresia
Congenital condition in which oesophagus ends in blind-ended pouch rather than connecting to the stomach
Associated with tracheo-oesophageal fistula - communication between trachea and oesophagus
How does oesophageal atresia present?
Choking
Excessive drooling
Respiratory distress - aspiration pneumonia
Cyanotic episodes during feeding
Abdominal distension if fistula
More common in those with polyhydramnios in 3rd trimester
Other congenital abnormalities - vertebral column, anorectal, cardiac, tracheal, renal, limbs
How is oesophageal atresia diagnosed and managed?
Diagnosis - unable to pass NG tube to stomach, can confirm with CXR
Treatment - surgical repair
If gap between upper and lower oesophageal segments too wide may need to wait for oesophagus to grow before surgery - G-tube feeding until then
List complications of oesophageal atresia
GORD
Dysphagia
Respiratory tract infections
Oesophagitis, Barrett’s oesophagus, oesophageal cancer
Surgical complications:
Oesophageal anastomotic leak
Oesophageal anastomotic stricture
List the top 5 causes of a vomiting baby
Overfeeding
Possetting (regurgitation - normal)
GORD
Pyloric stenosis
Obstruction - bilious vomiting is obstruction until proven otherwise
Define pyloric stenosis
Hypertrophy and narrowing of the pylorus - prevents food travelling from stomach to duodenum (gastric outlet obstruction)
List risk factors for pyloric stenosis
Male gender
Family history
First born
Describe the clinical presentation of pyloric stenosis
Age of onset 2-6 weeks
Rapidly progressive projectile vomiting soon after feeds without bile
Hungry, pale baby with acute weight loss, dehydration, hypochloraemia, hypokalaemia, metabolic alkalosis
Can cause constipation, haematemesis
Signs while feeding - palpable olive-sized pyloric mass, visible gastric peristalsis
How is pyloric stenosis diagnosed?
Typical signs during test feed (with NG in situ) - visible gastric peristalsis, pyloric mass
Ultrasound - hypertrophy of pyloric muscle, wall thickness >3mm, length >15mm and diameter >11mm
Other investigations:
Blood gas - hypochloraemic, hypokalaemic, metabolic alkalosis
U&Es - deranged due to dehydration
How is pyloric stenosis managed?
Pre-operative management:
Correct underlying metabolic abnormalities and hypovolaemia
Stop oral feeding, pass NG tube and aspirate 4 hourly
Check blood gases and U&Es regularly
Initial rehydration then maintenance fluids
Surgical management:
Ramstedt pyloromyotomy - after fluid and electrolyte abnormalities corrected
Laparoscopic or through supra-umbilical incision
Can resume feeding after 6 hours - post-operative vomiting common and isn’t necessarily a sign of incomplete myotomy
List potential complications of pyloric stenosis
Pre-operative:
Hypovolaemia
Electrolyte abnormalities
Apnoea - hypoventilation due to metabolic acidosis
Post-operative:
Wound dehiscence
Infection
Bleeding
Perforation
Incomplete myotomy
List the top 5 causes of bilious vomiting in a baby
- Malrotation +/- volvulus until proven otherwise
- NEC (Necrotising Enterocolitis)
- Atresia
- Hirschsprungs disease (Aganglionic Megacolon)
- Meconium disease i.e. meconium ileus, meconium plug syndrome
Define malrotation and describe the normal embryological development of the midgut
Occurs due to failure of normal sequence of rotation and fixation of the midgut which occurs between the 4th and 12th week of gestation
Primitive gut tube develops during week 3-4, divided into foregut, midgut and hindgut.
Foregut = oesophagus, stomach, liver, gallbladder, bile ducts, pancreas, proximal duodenum
Midgut = distal duodenum, jejunum, ileum, caecum, appendix, ascending colon, proximal 2/3 of transverse colon
Hindgut = distal 1/3 of transverse colon, descending colon sigmoid colon and upper anal canal
Midgut develops between weeks 6-10, loop herniates through primitive umbilical ring at week 6, rotates 270 degrees anticlockwise around the superior mesenteric artery and returns to the abdominal cavity
Large intestine does an additional 180 degree turn anticlockwise
Colonic fixation occurs after return to abdomen
Commonest abnormality means caecum is close to duodenojejunal flexure which results in an abnormally narrow midgut mesentery which is liable to twist - volvulus
Also have fibrous Ladd’s bands which run across the duodenum and can constrict it
Causes obstruction
How does malrotation present?
Can be asymptomatic if doesn’t cause obstruction
Usually presents 3-7 days after birth - discharged from hospital then present with bilious vomiting
Acute volvulus/obstruction presents with acute bilious vomiting, constipation, abdominal tenderness and distension, dehydration/shock, acidosis
Chronic - feeding intolerance, failure to thrive
How is malrotation diagnosed and managed?
Plain AXRs can be misleading - barium contrast studies are used for diagnosis
Management:
Resuscitation - nil by mouth, NG tube, IV fluids
Emergency laparotomy to repair - Ladd’s procedure
Define Hirschprung’s disease and describe its aetiology and the relevant embryology
Congenital intestinal motility disorder due to anganglionosis of the distal large intestine
Absence of enteric parasympathetic ganglion cells of the myenteric plexus (Auerbach’s plexus) in the distal bowel and rectum
Normally during fetal development there is craniocaudal migration of neural crest cells during the first trimester, in which parasympathetic ganglion cells migrate from higher in the GI tract to the distal colon
Hirschprung’s there is failure of migration and a section of the colon is aganglionic - length of affected section varies in length
Lack of innervation leads to tonic contraction of the aganglionic - lack of effective peristalsis and failure of the internal anal sphincter
Causes functional colonic obstruction and dilation of the proximal healthy colon
Genetics:
At least 24 genes discovered which could be related
Most commonly implicated is receptor tyrosine kinase (RET) gene
Also associated with other congenital abnormalities e.g. Down’s, neurofibromatosis, Waardenburg syndrome, MEN type II
List the subtypes of Hirschprung’s disease
Short segment - commonest, 80%, only involves rectosigmoid segment
Long segment - extends beyond sigmoid colon to splenic flexure/transverse colon, 15-20%
Total colonic aganglionosis - 5%, entire colon involved
List the risk factors for Hirschprung’s disease
Family history - most are sporadic but 10% familial
Male sex - 4:1 M:F
Chromosomal associations - Down’s syndrome commonest, also MEN2a and Waardenburg’s syndrome
Describe the presentation of Hirschprung’s disease
Most present as neonate
Severity depends on length of aganglionic segment
Typical triad of symptoms in neonate:
Failure to pass meconium within first 24-48 hours of life in a term infant
Abdominal distension
Bilious vomiting
Other symptoms
Irritability
Feeding intolerance
History of chronic constipation after birth
Faltering growth
Lethargy
Signs
Abdominal distension
Faecal mass in left lower quadrant
Increased bowel sounds which progressively decrease
PR exam - normal patent anus with increased sphincter tone, empty rectal vault, withdrawal of finger leads to blast sign - gush of liquid stool and flatus
How is Hirschprung’s disease diagnosed?
Rectal biopsy with acetylcholinesterase staining - absence of colonic ganglion cells
Other investigations:
AXR - distal intestinal obstruction, air-fluid levels, distended proximal bowel loops, absence of rectal gas
How is Hirschprung’s disease managed?
If unwell - IV fluid resuscitation
Identify and manage Hirschprung-associated enterocolitis
Definitive management
Surgical resection of aganglionic segment, pull-through of the proximal healthy bowel down to anal canal with preservation of sphincter function
Initially routine colonic irrigation done until surgery can be carried out to wash out intestinal contents and prevent enterocolitis resulting from bacterial overgrowth if there is faecal stasis
List potential complications of Hirschprung’s disease
Hirschprung’s associated enterocolitis
Bowel perforation
Post-operative:
Early - wound infection, pelvic abscess, anastomotic leak
Late - enterocolitis, constipation, faecal incontinence, bladder/sexual dysfunction
Describe the clinical presentation and management of Hirschprung-associated enterocolitis
Inflammation and obstruction of intestine
Presents within 2-4 weeks of birth with fever, abdominal distension, diarrhoea (often bloody) and features of shock/sepsis
Can lead to toxic megacolon and bowel perforation
Management
Sepsis 6 bundle
IV broad-spectrum antibiotics
IV fluid resuscitation
Routine colonic irrigation
NG bowel decompression
Nil-by-mouth
Define exomphalous and describe the clinical presentation and potential complications
Abdominal wall defect - failure of abdominal contents to return to abdominal cavity after umbilical herniation at 10-12 weeks gestation
Peritoneal outpouching forms sac which protrudes through umbilicus, can be mild (small loop) or severe (all abdominal organs)
Complications:
Immediate -
Rupture
Hypothermia
Trauma to contents during birth
Associated with other malformations - cardiac anomalies, neural tube defects, chromosomal abnormalities
Post-surgery -
Herniation
Intestinal dysfunction - can lead to volvulus, obstruction, intestinal necrosis
Short bowel syndrome
GORD
How is exomphalous managed?
Can be recognised prenatally but vaginal delivery not contraindicated unless very large and containing most of the liver as can cause dystocia
Sac is covered with warm, moist gauze after birth to protect
IV fluids and antibiotics
Delayed closure to allow for full assessment for other anomalies - may need staged surgeries if large
Define gastroschisis. How is it different to exomphalous?
Congenital abdominal wall defect - abdominal contents extend outside of abdomen through a paraumbilical orifice, usually to right of umbilicus
Variable size of hole - can be loops of intestines and other organs such as stomach and liver
No covering membrane, usually a smaller defect
How is gastroschisis managed? What are the potential complications?
Surgical repair - return exposed intestines to abdominal cavity and close hole
Can be done immediately or delayed, cover exposed organs with sterile dressings
May need staged surgeries
Fatal if untreated
Risk of necrotising enterocolitis, infections, volvulus
Define diaphragmatic hernia. When does the diaphragm develop embryonically?
Congenital defect in the diaphragm causing the abdominal contents to protrude into the thorax
Diaphragm develops between 4-12 weeks gestation.
List the most common types of diaphragmatic hernias
Bochdalek - posteriolateral defect
Morgagni - anteromedial defect
How do diaphragmatic hernias present?
Detected on antenatal US
Usually presents within first 24 hours of life
Dyspnoea
Respiratory distress
Cyanosis
Scaphoid abdomen
Bowel sounds in thorax
Reduced breath sounds on affected side
Displaced point of maximal impulse (displaced apex beat)
How is a diaphragmatic hernia diagnosed?
CXR - mediastinal shift, abdominal contents in chest cavity
How is diaphragmatic hernia managed?
What are the potential complications?
Resuscitation with ventilatory support after birth if respiratory distress
NG tube for decompression
Definitive - surgical repair of hernia
Complications:
Small bowel obstruction
Pulmonary hypoplasia on affected side
Define duodenal atresia
Describe its clinical presentation
Congenital absence or complete closure of a portion of the lumen of the duodenum
30% also have Down’s syndrome
Polyhydramnios prenatally as fetus unable to swallow amniotic fluid and absorb it in GI tract
Presents with bilious or non-bilious vomiting shortly after birth
Abdominal distension
‘Double-bubble’ sign on AXR - distended stomach and duodenum with pylorus separating them
How is duodenal atresia managed?
NG tube aspiration
IV fluids
Surgical correction - duodenoduodenostomy or duodenojejunostomy, can wait 24-48 hours after birth to allow fluid resuscitation etc.
List the features of congenital rubella syndrome
Congenital deafness
Congenital cataracts
Congenital heart disease (PDA and pulmonary stenosis)
Learning disability
List the features of congenital varicella syndrome and describe how it is prevented
Occurs with infection in <28 weeks gestation:
Fetal growth restriction
Microcephaly, hydrocephalus and learning disability
Scars and significant skin changes located in specific dermatomes
Limb hypoplasia
Cataracts and chorioretinitis
If exposed to chickenpox and non-immune - IV varicella immunoglobulins
If infection develops >20 weeks, present within 24 hours of rash - oral aciclovir
List the features of congenital cytomegalovirus infection
Fetal growth restriction
Microcephaly
Hearing loss
Vision loss
Learning disability
Seizures
List the features of congenital toxoplasmosis
Intracranial calcification
Hydrocephalus
Chorioretinitis
What are the consequences of antenatal parvovirus B19 for the neonate?
Hydrops fetalis
Severe fetal anaemia
List the features of congenital Zika syndrome
Microcephaly
Fetal growth restriction
Other intracranial abnormalities - ventriculomegaly and cerebellar atrophy
Define neonatal abstinence syndrome and list causes
Withdrawal symptoms in neonates of mothers who used substances in pregnancy - prescribed and illicit
Substances that cause neonatal abstinence syndrome:
Opiates
Benzodiazepines
Methadone
Cocaine
Amphetamines
Nicotine
Cannabis
Alcohol
SSRI antidepressants
Describe the clinical features of neonatal abstinence syndrome
Opiates, diazepam, SSRIs and alcohol - withdrawal between 3-72 hours after birth
Methadone, other benzodiazepines - withdrawal between 24 hours and 21 days
Symptoms:
Irritability
Hypertonic
High-pitched cry
Tremors
Seizures
Sweating
Pyrexia
Tachypnoea
Poor feeding
Regurgitation or vomiting
Hypoglycaemia
Loose stools
How is neonatal abstinence syndrome managed?
Monitoring for withdrawal symptoms of babies at risk
Urine sample to test for substances
Support in quiet, dim environment with gentle handling and comforting
Medical treatment:
Oral morphine sulfate for opiate withdrawal
Oral phenobarbitone for non-opiate withdrawal
Additional considerations:
Test for hepatitis B, C and HIV
Safeguarding and social service involvement
Support mother to stop using substances
Check suitability for breastfeeding
Describe the consequences of alcohol consumption during pregnancy
Greatest effect in first trimester
Can cause miscarriage, small for dates, preterm delivery
Foetal alcohol syndrome:
Microcephaly
Thin upper lip
Smooth flat philtrum
Short palpebral fissure
Learning disability
Behavioural difficulties
Hearing and vision problems
Cerebral palsy
What are the consequences of smoking during pregnancy on the neonate?
Low birth weight
Prematurity
Cleft lip/palate
Impaired brain development
Higher incidence of SIDs
Health problems long-term - asthma, otitis media, obesity, hypertension
What are the risks to the baby associated with gestational diabetes?
Macrosomia - birth injuries e.g. shoulder dystocia
Neonatal hypoglycaemia
Polycythaemia
Jaundice
Congenital heart disease
Cardiomyopathy
What is the difference between small for gestational age, low birth weight and fetal growth restriction?
Small for gestational age - fetus below 10th centile for their gestational age, based on measurements of weight and abdominal circumference taken via US, can be constitutionally small or due to fetal growth restriction
Low birth weight - <2.5kg
Fetal growth restriction/intrauterine growth restriction - pathologically small fetus
List causes of fetal growth restriction
Placenta-mediated - conditions affecting the transfer of nutrients across the placenta
Idiopathic
Pre-eclampsia
Maternal smoking
Maternal alcohol
Anaemia
Malnutrition
Infection
Maternal health conditions
Non-placenta mediated - fetal conditions
Genetic abnormalities
Structural abnormalities
Fetal infection
Errors of metabolism
What signs other than being small for gestational age can indicate fetal growth restriction?
Oligohydramnios
Abnormal dopplers
Reduced fetal movements
Abnormal CTG
List the potential complications of fetal growth restriction
Short-term:
Death or stillbirth
Birth asphyxia
Neonatal hypothermia
Neonatal hypoglycaemia
Long-term:
Cardiovascular disease, especially hypertension
T2DM
Obesity
Mood and behavioural problems
How is intrauterine growth restriction managed?
Increased monitoring - growth scans
Investigate for causes - BP and urine protein, doppler, fetal anatomy scan, karyotyping, testing for infections
Early delivery if static growth to reduce risk of stillbirth - give steroids
Describe the genetic basis of Down’s syndrome
Trisomy 21 - three copies of chromosome 21
Mechanisms:
Meiotic non-disjunction of the maternal chromosome 21 (95%)
Robertsonian translocation of unbalanced chromosomal material, usually between chromosome 14 and 21 (4%)
Mosaicism (1%)
What is the main risk factor for Down’s syndrome?
Maternal age - >35
Describe the clinical features of Down’s syndrome
Dysmorphic features:
Hypotonia
Hyperflexibility
Oblique palpebral fissues
Prominent epicanthic folds
Flat nasal bridge
Brachycephaly - flat occiput
Dysplastic, low-set, small ears
Small open mouth with protruding or furrowed tongue
High arched palate
Short neck with excessive skin at nape of neck
Simian palmar crease
Short, incurved pinky
Sandal toe deformity of feet
Congenital heart defects:
50%
Complete atrioventricular septal defect - most common
Ventricular septal defect
Atrial septal defect
Neurological disease:
Developmental delay and intellectual disability
Alzheimer’s
Respiratory disease:
Asthma
Obstructive sleep apnoea
GI disease:
Duodenal atresia
Imperforate anus
Tracheo-oesophageal fistula
Endocrine disease:
Hypothyroidism
Type 1 diabetes
Haematological disease:
Immunodeficiency
Transient myeloproliferative disorder
Polycythaemia
Acute megakaryoblastic leukaemia
Acute lymphoblastic leukaemia
Other:
Short stature and obesity
Ophthalmological disorders - cataracts, nystagmus, strabismus, glaucoma
Orthopaedic disorders - hip dislocation, foot deformities
Recurrent acute otitis media
Urological abnormalities - hypospadias, cryptorchidism
How is Down’s syndrome diagnosed?
Antenatal screening:
Combined test (11-14 weeks) - nuchal translucency on US (high), beta-HCG (high), pregnancy-associated plasma protein-A (PAPPA)
Triple test (14-20 weeks) - beta-HCG, AFP (low), serum oestriol (low)
Quadruple test (14-20 weeks) - triple test plus inhibin-A (high)
Antenatal testing - high risk from screening
CVS (<15 weeks), amniocentesis (15-20 weeks)
Non-invasive prenatal testing - blood test from mother to detect fetal DNA
How is Down’s syndrome managed?
MDT input -
OT
SLT
Physio
Dietician
Cardiologist - congenital heart disease
ENT
Audiologist
Routine follow-up investigations:
Regular thyroid function
Echo for cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
Describe the genetic basis of Klinefelter’s syndrome
Male has additional X chromosome - 47XXY
List the features of Klinefelter’s syndrome
Tall
Wide hips
Gynaecomastia
Weak muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties - speech and language
How is Klinefelter’s syndrome managed?
Testosterone injections
Fertility treatments
Breast reduction surgery for cosmetic purposes
MDT input - OT, physio
Describe the complications associated with Klinefelter’s syndrome
Increased risk of breast cancer, osteoporosis, diabetes, anxiety, depression
Describe the genetic basis of Turner’s syndrome
Female with single X chromosome - 45 XO
List the features associated with Turner’s syndrome
Short stature
Webbed neck
High arched palate
Downward sloping eyes with ptosis
Broad chest, wide nipples
Cubitus valgus
Underdeveloped ovaries with reduced function
Late or incomplete puberty
Most are infertile
List the conditions associated with Turner’s syndrome
Recurrent otitis media
Recurrent UTIs
Coarctation of the aorta
Hypothyroidism
Hyperthyroidism
Obesity
Diabetes
Osteoporosis
Learning disabilities
How is Turner’s syndrome managed?
Growth hormone - height
Oestrogen and progesterone replacement - establish secondary sex characteristics, regulate menstrual cycle, prevent osteoporosis
Fertility treatment
Monitoring for associated conditions and complications and treatment as appropriate
Describe the genetic basis of Fragile X syndrome
Mutation in FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome
X-linked, unlear if it is dominant or recessive
Males always affect, variable affect on females
If mother is phenotypically normal the affected child may have inherited the X-chromosome from their mother or it may result from a de novo mutation
List the features of Fragile X syndrome
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints - particularly in the hands
ADHD
Autism
Seizures
How is Fragile X syndrome managed?
MDT involvement to manage symptoms - learning disability, autism, ADHD, seizures
Describe the genetic basis of Noonan syndrome
Various genes implicated
Normal karyotype
Usually autosomal dominant inheritance
List the features of Noonan syndrome
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism - wide space between eyes
Prominent nasolabial folds
Low set ears, triangular shaped
Webbed neck
Widely spaced nipples
List conditions associated with Noonan syndrome
Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
Cryptorchidism - infertility
Learning disability
Coagulation disorders - factor XI deficiency
Lymphoedema
Increased risk of leukaemia and neuroblastoma
Describe the genetic basis of Patau’s syndrome
Trisomy 13 - three copies of chromosome 13
List the features of Patau’s syndrome
Microcephaly
Structural eye defects - microphthalmia, cataract, retinal dysplasia/detachment
Cleft lip/palate
Polydactyly
Overlapping fingers
Low set ears
Rocker-bottom feet
Omphalocele
Abnormal genitalia
Kidney defects
Heart defects - ventricular septal defect, patent ductus arteriosus
Dextrocardia
Describe the prognosis of Patau’s syndrome
90% mortality within first year
If survive past first year are typically severely disabled physically and mentally
Describe the genetic basis of Edward’s syndrome
Trisomy 18 - three copies of chromosome 18
List the features of Edward’s syndrome
Kidney malformation
Structural heart defects - ventricular septal defect, atrial septal defect, patent ductus arteriosus
Omphalocele
Oesophageal atresia
Intellectual disability
Microcephaly
Prominent occiput
Low set, malformed ears
Micrognathia - small jaw
Cleft lip/palate
Ocular hypertelorism
Ptosis
Rocker bottom feet
Webbed toes
Cryptorchidism
Describe the prognosis of Edward’s syndrome
95% of pregnancies don’t result in live birth
50% of live births don’t survive first week of life
Describe the genetic basis of Marfan’s syndrome
Autosomal dominant
FBN1 gene on chromosome 15 which codes for the protein fibrillin
Describe the features of Marfan’s syndrome
Tall stature
Long neck
Long limbs
Arachnodactyly - long fingers
High arched palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
List the conditions associated with Marfan’s syndrome
Les dislocation
Joint dislocation and pain due to hypermobility
Scoliosis
Pneumothorax
GORD
Mitral valve prolapse + regurgitation
Aortic valve prolapse + regurgitation
Aortic aneurysms
Describe the genetic basis of Prader-Willi syndrome
Loss of genes on proximal arm of chromosome 15 inherited from father
List the features of Prader-Willi syndrome
Hyperphagia - obesity
Hypotonia
Learning disability
Hypogonadism
Mental health problems - anxiety
Narrow forehead
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
How is Prader-Willi syndrome managed?
Dietician - limit access to food
Growth hormone - improve muscle development and body composition
MDT input - psychologists/psychiatrists, physio, OT
Describe the genetic basis of Angelman’s syndrome
Loss of function of maternal UBE3A gene on chromosome 15
List the features of Angelman’s syndrome
Delayed development, learning disability
Ataxia
Fascination with water
Happy demeanour
Hand flapping
Abnormal sleep patterns
Epilepsy
ADHD
Microcephaly
Wide mouth with widely spaced teeth
Describe the genetic basis of William syndrome
Deletion on one copy of chromosome 7 - usually a random deletion
List the features of William syndrome and associated conditions
Broad forehead
Starburst eyes
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Sociable personality
Mild learning disability
Associated conditions:
Supravalvular aortic stenosis
ADHD
Hypertension
Hypercalcaemia
Describe the normal postnatal care of a baby
Immediately post-birth:
Skin-to-skin
Clamp cord - delayed clamping
Dry baby
Keep warm with hat and blanket
IM vitamin K - prevent bleeding
Initiate feeding (breast or bottle) as soon as baby is alert enough
Wait for first bath >24 hours
Newborn examination within 72 hours then at 6-8 weeks
Blood spot test
Newborn hearing test
What does the newborn blood spot screen test for?
When are the results available?
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-coA dehydrogenase deficiency (MCADD)
Maple syrup urine disease
Isovaleric acidaemia
Glutaric aciduria type 1
Homocystin
Results take 6-8 weeks
Describe routine antenatal screening
Booking visit - take history and determine risk factors, check rhesus D status
11+2 weeks - 14+1 weeks - US scan for gestational age, screen for Down’s, Edward’s and Patau’s syndrome (combined test)
18 - 20+6 weeks - fetal anomaly US scan (anencephaly, spina bifida, cleft lip, diaphragmatic hernia, gastroschisis, exomphalos, congenital heart disease, renal agenesis, lethal skeletal dysplasia)
Quadruple test - second trimester, screen for Down’s
NIPT - high risk result from combined or quadruple test
Diagnostic testing (CVS, amniocentesis) if higher chance screening results
Describe the normal gross motor developmental milestones
Starts from head and moves downwards:
4 months - support head, keep it in line with body
6 months - sit up (support trunk on pelvis), don’t have balance to stay sitting up unsupported
9 months - sit unsupported, start crawling, can maintain a standing position and bounce on legs when supported
12 months - stand and cruise (walk while holding onto furniture)
15 months - walk unaided
18 months - squat and pick things up from floor
2 years - run, kick ball
3 years - climb stairs one foot at a time, stand on one leg for a few seconds, ride a tricycle
4 years - hop, climb and descend stairs like an adult
Describe the normal fine motor developmental milstones
Early milestones:
8 weeks - fixes eyes on object 30cm away and attempts to follow it, shows preference for face rather than inanimate object
6 months - palmar grasp of objects (wrap thumb and fingers around)
9 months - scissor grasp (squasher between thumb and forefinger)
12 months - pincer grip (holds with tip of thumb and forefinger)
14-18 months - can use spoon to bring food from bowl to mouth
Drawing:
12 months - hold crayon and scribble
2 years - copies vertical lines
2.5 years - copies horizontal lines
3 years - copies circles
4 years - copies cross and square
5 years - copies triangle
Tower of bricks:
14 months - 2 bricks
18 months - 4 bricks
2 years - 8 bricks
2.5 years - 12 bricks
3 years - 3 block bridge or train
4 years - can build steps
Pencil grasp
<2 years - palmar supinate grasp (fist grip)
2-3 years - digital pronate grasp
3-4 years - quadrupod grasp or static tripod grasp
5 years - mature tripod grasp
Others:
3 years - can thread large beads onto string, can make cuts in side of paper with scissors
4 years - can cut paper in half using scissors
Describe the normal language developmental milestones
Expressive and receptive
Expressive:
3 months - cooing
6 months - noises with consonants (starting with g, b, and p)
9 months - babbles, sounds like talking but no recognisable words
12 months - single words in context
18 months - 5-10 words
2 years - combines two words, >50 total
2.5 years - combines 3-4 words
3 years - basic sentences
4 years - tells stories
Receptive:
3 months - recognises familiar voices and gets comfort from them
6 months - responds to tone of voice
9 months - listens to speech
12 months - follows simple instructions
18 months - understands nouns e.g. show me the spoon
2 years - understands verbs e.g. show me what you eat with
2.5 years - understands propositions e.g. put the spoon under the step
3 years - understands adjectives e.g. show me the one which is bigger
4 years - follows complex instructions
List the personal and social development milestones
6 weeks - smiles
3 months - communicates pleasure
6 months - curious and engaged with people
12 months - engages with others by pointing and handing objects, waves bye bye, claps hands
18 months - imitates activities e.g. using a phone
2 years - extends interest to others beyond parents e.g. waving to strangers, plays next to but not necessarily with other children, usually dry by day
3 years - seek out other children and play with them, bowel control
4 years - has best friend, dry by night, dresses self, imaginative play
List red flags for developmental delay
Loss of developmental milestones
Not smiling by 10 weeks
Not being able to hold an object at 5 months
Not sitting unsupported 12 months
Not walking by 18 months
Showing hand preference before 12 months
Not knowing 2-6 words by 18 months
Not running at 2.5 years
No interest in others at 18 months
Define developmental delay and global developmental delay
Developmental delay - delay in any of the four developmental areas (gross motor, fine motor, speech and language, social and emotional)
Global delay - delay in two or more of the above areas simultaneously
List causes of developmental delay
Neurological
Congenital - antenatal vascular event, spina bifida
Acquired - hypoxic ischaemic encephalopathy, intraventricular haemorrhage, prolonged hypoglycaemia, traumatic brain injury, stroke, epilepsy
Infection
Congenital - TORCH (toxoplasmosis, rubella, CMV, HSV, HIV)
Meningitis
Encephalitis
Neuromuscular disorders
Duchenne muscular dystrophy
Spinal muscular atrophy
Hypothyroidism
Genetic disorders e.g. Down syndrome
Pervasive developmental disorders e.g. Autism
Metabolic disorders
Hurle syndrome
Krabbe’s disease
PKU
Prematurity
Idiopathic
How is developmental delay assessed?
Developmental assessment - what can they do/not do and how appropriate is this for their age?
Standardised developmental assessments e.g. Griffiths scale of child development of the schedule of growing skills
Investigations:
FBC and haematinics - iron deficiency, folate/B12 deficiency
U&Es - renal failure, hyponatraemia
CK - Duchenne
TFTs - congenital hypothyroidism
LFTs - metabolic disorders
Vitamin D
Hearing test - isolate speech and language delay
Second-line investigations e.g. karyotyping, metabolic screens, MRI, EEG
Describe the UK vaccination schedule from birth
Before/after pregnancy: MMR vaccine (if haven’t already had)
During pregnancy:
Pertussis
2 months:
6-in-1 - diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B, hepatitis B
MenB
Rotavirus
3 months:
6-in-1
Rotavirus
Pneumococcal
4 months:
6-in-1
MenB
Within a month of first birthday:
Hib/menC
MenB
MMR
Pneumococcal
2-11 years
Flu annually
3 years 4 months
6-in-1
11-13 years - HPV
14 years
Tetanus, diphtheria and polio
MenACWY
List the non-routine vaccinations given to babies, their indications and the when they are given
BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB
Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 months
Influenza - 6 months to 17 years with chronic health conditions
List the non-routine vaccinations given to babies, their indications and the when they are given
BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB
Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 weeks
Influenza - 6 months to 2 years old annually, chronic health condition, injection not nasal
Which vaccines are live attenuated? What are the contraindications to these vaccines in children?
MMR
BCG
Chickenpox
Nasal influenza
Rotavirus
Contraindicated if:
Receiving high dose steroids
Receiving immunosuppressive treatment
Immunosuppressed
Malignancy
Acutely unwell with systemic upset
List key features in a history which raise suspicion of non-accidental injury
Mechanism of injury not compatible with injury sustained
Developmental stage of child not consistent with injury sustained (e.g. non-mobile)
Sustained significant injury with little or no explanation
Inconsistent history
Delayed presentation
Recurrent injuries
Parents reaction not appropriate to situation - too concerned, aggressive, elusive
List the injuries which are suspicious of non-accidental injury and the features of these
Burns and scalds:
In locations which would not be expected to come into contact with a hot object - soles of feet, buttocks/back, backs of hands
Bilateral, symmetrical
Shape of burn e.g. circular for cigarette, sharply delineated borders
Bruises:
Non-mobile child
Shape of bruise - hand, ligature
On non-bony parts or face/ears
Multiple bruises, clustered bruises
Bites:
Human appearance
Animal - neglect
Lacerations/abrasions:
Non-mobile child
Symetrical
Around face, ankles, wrist
Fractures:
<18 months old
Fractures of different ages (especially if no record of seeking medical attention for previous)
Metaphyseal corner fractures
Occult rib fractures
Spiral fractures
Humeral fractures
Intracranial injuries:
Shaken baby syndrome
Subconjunctival/retinal haemorrhage
Multiple subdural haemorrhages
Hypoxic encephalopathy
Without adequate explanation
Other:
Spinal injuries
What is the differential diagnosis for suspected non-accidental injury?
Bruising:
Coagulopathy
Birth marks
Vasculitic disorders
Infection - meningococcal septicaemia, HSP
Drug-related - NSAIDs
Erythema nodosum
Malignancy
Fractures:
Birth injury - clavicular
Infection - osteomyelitis
Malignancy
Osteogenesis imperfecta
Nutritional - vit D deficiency, copper deficiency
How should suspected non-accidental injury be investigated?
Skeletal survey - head/chest, spine/pelvis, upper limbs, lower limbs
Repeat at 11-14 days
CT head if acute, MRI if non-acute
FBC
Coagulation screen
Bone biochemistry
List risk factors for non-accidental injury
History of intimate partner violence and abuse - before/during/after pregnancy
Substance abuse/mental health conditions in caregivers
Excessive crying - shaking
Unintended pregnancy
Developmental problems
How does neglect present in children?
Medical:
Unvaccinated
Failure to attend appointments
Poor compliance with medication
Failure to seek appropriate, timely medical advice
Nutritional:
Faltering growth
Obesity
Emotional:
Delayed development
Poor sleep
Persistent crying
Irritable
Apathetic
Difficult/violent behaviour
Antisocial behaviour
Academic failure
Depression, self harm
Substance abuse
Physical:
Inadequate hygiene
Severe and/or persistent infestations/infections
Inappropriate clothing for size and weather
Failure to supervise:
Frequent A&E attendances
Injuries that suggest lack of care - burns, falls
Ingestion of harmful substances
Define cerebral palsy
Umbrella term for non-progressive, permanent neurological disorders affecting normal movement and posture
Describe the aetiology of cerebral palsy
Acquired pathology within the developing brain during the prenatal, neonatal or early infant period
Impaired movement due to centrally-mediated abnormal muscle tone which most commonly leads to spasticity
Prenatal:
Maternal infections - toxoplasmosis, rubella, CMV, HSV
Trauma during pregnancy
Congenital brain malformation
Intrapartum:
Birth asphyxia
Pre-term birth
Intraventricular haemorrage
Hypoxic-ischaemic brain injury
Neonatal:
Meningitis
Severe neonatal jaundice
Head injury
List the types and patterns of cerebral palsy
Spastic - hypertonia and reduced function to damaged upper motor neurones
Dyskinetic - hypertonia and hypotonia, problems controlling tone causing athetoid movements and oro-motor problems, due to damage to basal ganglia
Ataxia - cerebellar damage
Mixed - spastic, dyskinetic and/or ataxic features
Patterns:
Monoplegia - one limb affected
Hemiplegia - one side of body affected
Diplegia - four limbs affected but mostly legs
Quadriplegia - four limbs affected more severely, associated with seizures, speech disturbance etc.
Describe the clinical presentation of cerebral palsy
Usually presents with delayed motor milestones:
Not sitting by 8 months
Not walking by 18 months
Hand preference before 12 months
Tone abnormalities
Abnormal movements - asymmetrical, fidgeting, lack of movement
Feeding difficulties - choking, dysphagia
Persistent toe walking
Problems with coordination, speech or walking
Learning difficulties
Gait abnormalities - hemiplegic or diplegic, plantar flexion
Upper motor neurone signs - increased tone, brisk reflexes, reduced/normal power
Non-progressive - no loss of milestones
List the complications/conditions associated with cerebral palsy
Learning difficulties
Epilepsy
Kyphoscoliosis
Muscle contractures
Hearing and visual impairment
GORD
Problems with feeding and aspiration
Osteopaenia and osteoporosis - especially if non-mobile
How is cerebral palsy diagnosed?
Clinical diagnosed
MRI can be used, shows - white matter, deep grey matter and basal ganglia matter
Imaging only used to exclude other diagnoses
How is cerebral palsy managed?
MDT approach
Conservative:
Physiotherapy
Occupational therapy
Speech and language therapy
Dietician
Medical management - symptom management:
Hyoscine hydrobromide or glycopyrronium bromide - excess drooling
Diazepam - pain
Baclofen - hypertonia
Botulinum toxin type A injections - spasticity
Anti-epileptics
Surgery:
Hip displacement common
Tenotomy to release contractures
Define epilepsy and seizures
Epilepsy - neurological disorder in which person experiences recurring seizures, tendency to have seizures
At least 2 unprovoked seizures occurring >24 hours apart
One unprovoked seizure and a probability of further seizures similar to the general recurrence risk after two unprovoked seizures (>75%)
At least two seizures in a setting of reflex epilepsy
Seizure - transient episode of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain
Define febrile seizure
Seizure associated with febrile illness not caused by an infection of the CNS, without previous neonatal seizures or a previous unprovoked seizure and not meeting the criteria for other acute symptomatic seizure, occurring in children aged 6 months to 6 years
List types of seizures and describe the nature of each
Generalised tonic-clonic - loss of consciousness, tonic (tensing) and clonic (spasming) movements, typically tonic then clonic, associated with tongue biting, incontinence, groaning and irregular breathing, post-ictal period
Focal - affect hearing, speech, memory and emotions, e.g. hallucinations, memory flashbacks, deja vu
Absence - typically affects children, go blank and stare into space then abruptly return to normal
Atonic seizures - drop attacks, brief lapses in muscle tone, last <3 minutes, begin in childhood, may indicate Lannox-Gastaut syndrome
Myoclonic seizures - sudden brief muscle contractions, usually remain conscious, typically in children as part of juvenile myoclonic epilepsy
Infantile spasms (West syndrome) - rare, starts at 6 months old, clusters of full body spasms, poor prognosis
Febrile convulsions - seizures during fever, no underlying pathology, 6 months - 6 years
List the types of seizures most common in children, their incidence, age of onset, features and prognosis
Febrile convulsion:
3% of children in the UK
Age 6 months to 5 years
Fever >38, usually in first day of fever
Tonic-clonic seizure - eye rolling, tongue biting, incontinence
Symptoms of infection
Simple or complex seizures - <15 minutes or >15 minutes, prolonged post-ictal state
>30 minutes - febrile status epilepticus
Recurrent seizure in 30%
3% will progress to having epilepsy (more if complex)
Infantile spasms (West syndrome):
Rare (1 in 4000)
Starts at 6 months old
Clusters of full body spasms
Poor prognosis - 1/3 mortality by age 25, 1/3 seizure free
Juvenile myoclonic epilepsy:
Age 12-18
Myoclonic or tonic-clonic seizures, brief absence seizures
Often during/after waking
40% photosensitive
Often don’t outgrow, good prognosis with treatment
Childhood absence epilepsy:
Age 4-10
Frequent absence seizures (100 per day), very brief
90% grow out of seizures
Lennox Gastaut syndrome:
Age 3-5
Tonic, atonic and atypical absence seizures
Associated with learning difficulties
Difficult to treat, often continue into adult life
Describe the management of epilepsy
Acute seizure management:
A-E
Anti-convulsants - IV lorazepam, buccal midazolam, rectal diazepam
Febrile seizures of <5 minutes don’t need treatment
General safety precautions - showers rather than baths, caution swimming, driving
Long-term medical management - anti-epileptic drugs
Explanation of prognosis to parents and child
How should a first seizure in a child be assessed/investigated?
Good history of episode - having a video of the episode is most helpful
EEG - once confirmed seizure can be used to characterise seizure type and epilepsy syndrome
MRI - not indicated in absence or juvenile myoclonic epilepsy
Genetic testing? - if aetiology can’t be explained, after counselling family
What is the differential diagnosis for an epileptic seizure in a child?
CNS infection e.g. meningitis, encephalitis
Syncope
Head injury
Rigors
Post-ictal fever
Inborn errors of metabolism
Electrolyte disturbance
Hypoglycaemia
Behavioural
Migraine
Breath-holding spells
What is a breath-holding spell? List types and management.
Involuntary episodes during which child holds their breath
Cyanotic - when crying, stop breathing, become cyanotic and lose consciousness. Regain consciousness within a minute, can be tired and lethargic after.
Reflex anoxic seizures - when child is startled, vagus nerve sends signal to heart to stop it beating, child goes pale, loses consciousness, may have myoclonic jerking, within 30 seconds heart restarts and child regains consciousness.
Management:
Exclude other pathology
Educate and reassure parents - likely to outgrow by age 4-5
Treat iron deficiency anaemia
Define brachy- and plagiocephaly
Common conditions that cause abnormal head shapes in otherwise healthy babies
Plagiocephaly - flattening of head on one side, causing asymmetry
Brachycephaly - back of head flattened, causing shortening of the head in the sagittal plane
More common as advised to place babies on their back to sleep to reduce risk of SIDs
How is plagiocephaly/brachycephaly managed?
Exclude other conditions e.g. craniosynotosis, congenital muscular torticollis
Reassurance
Simple measures to avoid resting on flattened area - lay on round side for sleep, supervised tummy time, helmets
List causes global developmental delay
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders - inborn errors of metabolism
List causes of gross motor delay
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
List causes of fine motor delay
Dyspraxia
Cerebral palsy
Muscular dystrophy
Visual impairment
Congenital ataxia
List causes of speech and language delay
Social circumstances e.g. exposure to multiple languages
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
List causes of personal and social delay
Emotional and social neglect
Parenting issues
Autism
List neurodegenerative causes of developmental delay and describe their features
Subacute sclerosing panencephalitis - progressive brain inflammation caused by infection with measles virus, primary infection then average of 7 year asymptomatic period then degeneration with behaviour change, seizures, blindness, ataxia then death
Neuronal ceroid lipofuscinosis - family of neurodegenerative lysosomal storage disorders, most are autosomal recessive, vision loss is first symptom, then seizures, psychological degeneration
West disease - infantile spasms
Tuberous sclerosis - autosomal dominant, growth of non-cancerous tumours (hamartias/hamartomas) in brain and on other organs e.g. kidneys, heart, liver, lungs, eyes, causes seizures, intellectual disability etc.
Werdnig-Hoffman disease (spinal muscular atrophy) - motor neurone disease with anterior horn degeneration, progressive weakness of voluntary muscles, arm, leg and respiratory muscles affected first
Hereditary spastic paraplegia - progressive spasticity, upper motor neurone signs
List metabolic causes of developmental delay and describe their features
Most picked up on newborn blood spot test
Phenylketonuria - autosomal recessive, defect in phenylalanine hydroxylase, which converts phenylalanine to tyrosine, presents at 6 months with developmental delay, seizures, ‘musty’ odour to sweat and urine
Maple syrup urine disease - autosomal recessive, symptoms within 24-48 hours, poor feeding, lethargy, then focal neurological signs, sweet-smelling urine and ear wax
G6PDD - X-linked recessive, prolonged neonatal jaundice, haemolytic crises (triggers e.g. fava beans)
Galactosaemia - autosomal recessive, impaired galactose metabolism, symptoms within first few days of life, poor feeding, weight gain, vomiting, diarrhoea, hepatocellular damage, lethargy, hypertonia
Describe the genetic basis of muscular dystrophy
X-linked recessive - DMD gene which codes for dystrophin protein
Duchenne muscular dystrophy - mostly out-of-frame deletions, more severe
Becker muscular dystrophy - mostly in-frame deletions, more mild
Describe the clinical presentation of muscular dystrophy
Symptoms:
Progressive weakness - starting proximally and moving distally, lower limbs affected before upper limbs
Delayed motor milestones - typically ability to walk independently
Waddling gait, clumsy, fall over
Faltering growth
Fatigue
Intellectual impairment e.g. delayed speech milestones
Behavioural issues - ADHD, autism, OCD
Leg pain
Clinical features not apparent until >2 years old
Signs:
Weakness - proximal and distal leg muscles
Calf pseudohypertrophy - accumulation of fat and connective tissue replacing muscle
Waddling gait - worse when running
Gower’s sign - climbs up legs when rising from floor
Hyporeflexia or areflexia
Pes planus
Difficulty or inability to squat
Describe the clinical course and prognosis of Duchenne muscular dystrophy
Symptoms become evident at age 2
Usually wheelchair users by age 12
Death usually in second or third decade of life due to cardiac or pulmonary complications
How is muscular dystrophy diagnosed?
Serum creatinine kinase - screening tool on first presentation (not reliable for those who are already wheelchair users)
Definitive diagnosis:
Genetic analysis - identify DMD gene mutations
Muscle biopsy - analysis of dystrophin protein
Other investigations:
Electromyography
ECG and echo - cardiomyopathy
Lung function testing - restrictive lung disease
How is Duchenne muscular dystrophy managed?
No curative management - aim to preserve quality of life for as long as possible
MDT input
Early management:
Corticosteroids - prolong ability to walk by 6-24 months, slow progression of respiratory impairment and cardiomyopathy
Vitamin D and calcium supplements - enhance bone health
Creatinine supplementation
Physiotherapy - prevent development of contractures
Orthoses - stabilise knee, ankle and foot, prolong ability to walk
Later management:
Wheelchair
Orthopaedic input - orthotics and surgery for contractures/scoliosis
Cardiac and respiratory surveillance
Advanced planning and palliative care
Counselling
List the types of muscular dystrophy (other than Duchenne’s), their features and prognosis
Becker’s - similar to Duchenne’s but less severe, symptoms appear at 8-12 years, wheelchair required 20-30, life expectancy 40-50, dilated cardiomyopathy
Myotonic dystrophy - presents in adulthood, progressive muscle weakness, prolonged muscle contractions, cataracts, cardiac arrhythmias
Fascioscapulohumeral - presents in childhood with weakness around face, progressing to shoulders and arms
Oculopharyngeal - presents in late adulthood with weakness of ocular muscles and pharynx, ptosis, resctricted eye movement, swallowing issues
Limb-girdle - teenage years, progressive weakness around hips and shoulders
Emery-Dreifuss - childhood, contractures, most commonly in elbows and ankles, progressive weakness and wasting of muscles, starting with upper arms and lower legs
Describe the normal pattern of growth in childhood
Term newborns typically lose 5-8% of their birth weight during the first few days of life but regain it by the end of the first two weeks
Rapid growth from birth to age 1/2
Slower growth from 2 - adolescent growth spurt
Can have erratic eating patterns, eat little one day then make up for it by eating more the next day
Steady growth throughout preschool and school, tend to grow the same amount each year until major growth spurt
By age 3 muscle tone increases and body fat decreases, so look more lean and muscular than babies
Pubertal growth spurt due to interaction between gonadal sex steroids (oestradiol/testosterone), GH and insulin-like growth factor 1
How is growth monitored in children?
Measure weight and length during first year of life at every doctor’s visit to make sure growth is proceeding at a steady state
Head circumference also routinely measured until 3 years old
Measure length in children too young to stand then height in children who can stand
WHO growth charts for 0-4 and 2-18 years, plot measurements on chart, compares to other children of the same age and sex, describes optimal growth for healthy, breastfed children
Single point on chart not that useful, plot the change over time
If in 50th percentile - mean age of children of that height in the normal population
Describe normal puberty in females
Normally begins between ages of 8-14
Controlled by hypothalamic-pituitary-ovarian axis, hypothalamus released gonadotropin releasing hormone which stimulates release of FSH and LH from anterior pituitary
FSH and LH act on the ovaries to stimulate synthesis and release of oestrogen and progesterone and oogenesis
First sign is beginning of breast development (thelarche), occurs around 9-10, breast buds appear as small mounds with breast and papillae elevated, continue to increase in size following menarche due to increased fat deposition
Pubarche is next sign - growth of hair in the pubic area, initially sparse, light and straight, becomes coarser, thicker and darker
2 years after pubarche hair begins to grow in the axillary area
Menarche - usually occurs around 1.5-3 years after thelarche (12.8 areas in Caucasian girls and 4-8 months later in African-American girls), due to increases in FSH and LH
Describe normal puberty in males
Normally begins at 10-16
GnRH released from hypothalamus, stimulates release of FSH and LH from anterior pituitary
FSH and LH act on testicles to stimulate synthesis and release of testosterone
Stimulates onset of sperm production
First sign is increase in testicular size
Increased LH stimulates testosterone synthesis by Leydig cells and increased FSH stimulate sperm production by Sertoli cells
Scrotal skin also grows and becomes thinner, darker in colour and starts to hang down from the body, becomes spotted with hair follicles
Approximately a year after testicles start to grow, boys can experience their first ejaculation, indicates theoretical capability of procreation, on average reach fertility one year after ejaculation
Growth of penis after testicular enlargement - grows in length then width
Pubarche - growth of pubic hair at base of penis, start as light, straight and thin, then become darker, curlier and thicker
Approximately 2 years later, hair grows on legs, arms, axillae, chest and face
Following peak of growth spurt - larynx and vocal cord enlarge, voice deepens
Describe the physiological influences on normal growth and development in childhood
Infancy - mainly dependent on nutrition, largely growth hormone and thyroxine independent
Childhood - growth hormone/IGF-1 axis, as well as thyroid hormone, insulin, nutrition
Growth spurt during puberty dictated by interaction between gonadal sex steroids (oestradiol/testosterone), growth hormone, insulin-like growth factor I
Also role of adrenal androgens, thyroid hormones, leptin and nutrition
List abnormalities of pubertal development
Precocious puberty - before 8 in girls and 9 in boys (2 - 2 and a half standard deviations from the mean)
Late-onset puberty - no physical changes (breast/testicular development) before the age of 14
Describe the types of precocious puberty and causes of each
True precocious puberty - due to early activation of the HPG axis
Causes:
Central malformation or damage e.g. hydrocephalus, neurofibromatosis
Acquired - post-sepsis, surgery, radiotherapy, trauma, birth anoxia
Brain tumours
False precocious puberty - gonadotrophin independent, usually presents with isolated development of one pubertal characteristic
Causes:
Increased adrenal activity - congenital adrenal hyperplasia
Exogenous sex steroids
Gonadal tumour - ovarian/testicular tumours
Hypothyroidism
McCune Albright syndrome - polyostotic fibrous dysplasia
How is pubertal stage determined?
Tanner staging
Prader orchidometer
List consequences of early puberty
Short stature - loss of 2-3 years of typical growth hormone-dependent growth (20cm in females, 30cm in males)
Psychological disturbance
Early menarche - ill-equipped to manage at young age
Safeguarding concerns
List causes of delayed puberty in both sexes
Maturational delay - commonly runs in families
Gonadal failure - hypergonadotropic hypogonadism (high LH and FSH)
XXY, XO, XY/XO variants - Turner’s/Klinefelter’s
Abnormal gonadal development - genetic
Damage to gonads e.g. testicular torsion, cancer, infections
Hypothalamic pituitary dysfunction - hypogonadotropic hypogonadism (low FSH and LH)
Damage to hypothalamus or pituitary e.g. infection, surgery, radiotherapy
Genetic e.g. Kallmann syndrome
Chronic conditions e.g. IBD, cystic fibrosis
Hyperprolactinaemia
Metabolic - glycogen storage disorders, galactosaemia
List causes of delayed puberty only seen in girls
Turner’s syndrome
Anorexia nervosa
Low body weight/athletic lifestyle
Autoimmune failure - premature ovarian failure
Define failure to thrive and faltering growth
Failure to thrive = poor physical growth and development in a child
Faltering growth = fall in weight across
One or more centile spaces if birthweight below 9th centile
Two or more centile spaces if birthweight between 9th and 91st centile
Three or more centile spaces if birthweight above 91st centile
List causes of failure to thrive
Inadequate nutritional intake
Difficulty feeding - cerebral palsy, cleft lip/palate, pyloric stenosis
Malabsorption - cystic fibrosis, coeliac disease, Cow’s milk intolerance, chronic diarrhoea, IBD
Increased energy requirements - hyperthyroidism, chronic disease, malignancy, chronic infections
Inability to process nutrients properly - inborn errors of metabolism, type 1 diabetes
How can a child’s height be predicted?
Boys: (mother height + fathers height + 14cm) / 2
Girls: (mothers height + father height – 14cm) / 2
Describe the aetiology of congenital adrenal hyperplasia
Group of autosomal recessive disorders characterised by impaired cortisol synthesis
90% due to congenital deficiency of 21-hydroxylase enzyme
21-hydroxylase converts progesterone into aldosterone and cortisol
Results in low cortisol, low aldosterone, high ACTH, high testosterone
How does congenital adrenal hyperplasia present?
Due to mineralocorticoid deficiency (aldosterone):
Hyponatraemia, hyperkalaemia, hypoglycaemia, which cause symptoms of:
Poor feeding
Vomiting
Dehydration
Arrhythmias
Hypotension
Weight loss
(more severe form)
Due to androgen excess (testosterone):
If severe present at birth with virilised (ambiguous) genitalia, enlarged clitoris
If more mild:
Female - tall, facial hair, absent periods, deep voice, early puberty
Male - tall, deep voice, large penis, small testicles, early puberty
Due to ACTH excess:
Skin hyperpigmentation
How is congenital adrenal hyperplasia diagnosed and managed?
ACTH stimulating testing confirms diagnosis
Management:
Acute - fluid resuscitation, IM hydrocortisone
Cortisol replacement - hydrocortisone
Aldosterone replacement - fludrocortisone
Corrective genital surgery if required
What is the differential diagnosis of congenital adrenal hyperplasia?
Congenital adrenal hypoplasia - genetic or metabolic causes, presents at birth with disorders of sexual development, hyponatraemia, hyperkalaemia, hypotension
Familial glucocorticoid deficiency - hypoglycaemia, hypotension, electrolyte disturbance
Selective mineralocorticoid deficiency - hyponatraemia, hyperkalaemia, hypotension
Addison’s disease - insidious onset weakness, hyperpigmentation, fatigue, dizziness, salt craving
Autoimmune polyglandular syndromes 1/2/4 - other autoimmune conditions involved e.g. hypoparathyroidism, diabetes, vitiligo, coeliac disease
Secondary causes - steroid withdrawal after prolonged use, hypopituitarism, catastrophic infection or severe illness leading to adrenal necrosis (Waterhouse-Friderichsen syndrome)
List causes of multiple pituitary insufficiency
Congenital - familial (10%) or sporadic
Acquired - tumour, surgery, trauma (including birth trauma), irradiation, infection, autoimmune, hydrocephalus
Idiopathic
How does multiple pituitary insufficiency present in children?
Most commonly deficient in FSH/LH and GH
Newborn:
Abnormal genitalia - small penis
Hypoglycaemia
Prolonged jaundice
Poor feeding
Excessive urination
Infants/older children
Abnormal growth/short stature
Excessive thirst and urination
Poor appetite
Nausea
Dizziness
Obesity
Adolescents:
Delayed puberty
Oligomenorrhoea/amenorrhoea
How is multiple pituitary insufficiency managed?
Replace hormones which are deficient
Treat underlying cause e.g. infection, tumour
How are children defined as overweight or obese?
Using BMI plotted on WHO/RCPCH growth charts appropriate for age and sex
Overweight - BMI >85th centile
Obese - BMI >95th centile
List causes of childhood obesity
Imbalance between energy intake and expenditure - unhealthy diet, sedentary lifestyle (MOST COMMON CAUSE)
Genetic, socio-economic, family and psychological influences important
Pathological causes (much more rare)
Hypothyroidism
Cushing’s disease
Medication e.g. steroids, antidepressants, anti-epileptics
Genetic syndromes - Prader-Willi syndrome
What are the potential complications of childhood obesity?
Social/psychological - bullying, depression, eating disorders, poor academic performance
Obesity in adulthood
Sleep apnoea
T2DM
Asthma
NAFLD
CVD
Hypertension
Stroke
Menstrual abnormalities
Orthopaedic complications e.g. arthritis
No long term ill-effects if achieve and maintain normal weight during childhood
What is the average birth weight?
3.3-3.5kg
Define diabetes mellitus
Metabolic disorder characterised by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion (insulin deficiency), insulin action (insulin resistance) or both
Define type 1 diabetes and describe its aetiology
Autoimmune pancreatic beta cell destruction leading to absolute insulin deficiency and persistent hyperglycaemia
Primarily emerges in childhood, most common form of DM in <16s
Aetiology not entirely clear, genetic component (HLA DR3/4, DQB) with possible environmental trigger - viral e.g. Coxsackie B virus, enterovirus, which leads to T-cell mediated beta cell destruction
How does type 1 diabetes present in a child?
25-50% present in DKA - generally unwell, lethargy, nausea, vomiting, abdominal pain, headache, irritability, can progress to confusion, collapse, may also have symptoms of concurrent infection
Symptoms of hyperglycaemia (with or without DKA, usually start 1-6 weeks before DKA):
Polyuria - can present as secondary enuresis
Polydipsia
Weight loss
Other features:
Recurrent infections
Excessive tiredness
Family history of diabetes/autoimmune disease
How is type 1 diabetes diagnosed?
Fasting plasma glucose more than or equal to 7
Random plasma glucose more than or equal to 11.1
Single random plasma glucose + symptoms usually sufficient to diagnose
Other investigations:
FBC, U&Es, laboratory glucose
Blood cultures if suspected infection
HbA1c
TFTs and TPO for associated autoimmune thyroid disease
anti-TTG for associated coeliac disease
Antibodies for type 1 DM - insulin antibodies, anti-GAD antibodies, islet cell antibodies
How is type 1 diabetes managed in a child?
Education
Lifestyle advice
Immunisations - influenza, pneumococcal
Self-monitoring of blood glucose (real-time continuous or scanned continuous should be offered) and insulin therapy
Target HbA1c 48 or lower, fasting glucose 4-7, after meal glucose 5-9
Sick day rules - don’t omit insulin, check blood glucose more frequently, check blood ketones regularly, maintain normal meal pattern and adequate hydration
Monitoring for complications:
Monitor growth by measuring height and weight and plotting on an appropriate growth chart
Regular dental examinations (every 3-6 months)
Eye examination every 2 years until 12, then annual diabetes eye screening
Feet assessed for diabetic foot problems
Annual monitoring for diabetic kidney disease (>12), hypertension (>12) and thyroid disease
Screen for psychological and social problems - anxiety, depression eating disorders
Define hypoglycaemia
Blood glucose levels <3.5mmol/L +/- symptoms of hypoglycaemia
Describe the symptoms of hypoglycaemia
Mild - dizziness, hunger, irritability, anxiety, sweating, palpitations, headache, confusion
Moderate - weakness, lethargy, impaired vision, confusion, irrational behaviour
Severe - seizures, loss of consciousness, coma
How is hypoglycaemia managed?
Mild - conscious, orientated, able to swallow
15-20g quick acting CHO - dextrose tabs, glucotabs, glucojuice, pure fruit juice
Retest in 10-15 minutes, if <4 repeat for up to 3 cycles
Moderate - conscious and able to swallow but confused, disorientated or aggressive
If co-operative treat as for mild
If uncooperative squeeze glucose gel into mouth
If ineffective give 1mg IM glucagon (once only)
Retest in 10-15 minutes, if <4 repeat for up to 3 cycles
Severe - unconscious, very aggressive or NBM
ABC assessment
Stop any IV insulin
Give IV glucose
Or give IM glucagon (once only)
Retest in 10 minutes, if <4 repeat
Once >4 give 20g long acting CHO, continue regular BM monitoring
How can hypoglycaemia episodes be prevented?
Consider lifestyle factors - eating, alcohol, exercise
Consider injection technique, injections site problems
Reduce insulin dose - 10-20%
Define DKA
Acidosis - blood pH <7.3 or plasma bicarbonate <15mmol/L
Ketonaemia - blood ketones >3
Hyperglycaemia (usually but not always) >11 mmol/L
How does DKA present?
Laboured breathing
Kussmaul breathing - deep, sighing
Nausea/vomiting
Abdominal pain
Dehydration - sunken eyes, skin turgor reduced
CRT >2 seconds
Cool peripheries
Tachycardia
Tachypnoea
Hypotension
Ketotic breath
Abdominal tenderness
Cerebral oedema - headache, irritability, confusion, reduced consciousness, increased ICP (bradycardia, hypotension, papilloedema)
Symptoms of underlying illness - infection
More long-term symptoms of diabetes - polydipsia, polyuria, weight loss
How is DKA managed in children?
Much higher risk of cerebral oedema - cautious approach to fluid resuscitation
ABC assessment
Consider intubation if reduced consciousness
High-flow oxygen
If signs of shock restoring circulating volume is more important
Fluid:
If in shock - initial bolus of 20ml/kg 0.9% NaCl over 15 minutes then up to 40ml/kg
If not in shock - initial bolus 10ml/kg over 1 hour then calculate deficit based on % dehydration from severity score + maintenance
Monitor potassium and add to fluids as needed (+ ECG)
Insulin:
Delay IV insulin for 1-2 hours after initial IV fluid therapy to reduce cerebral oedema
0.05-0.01 units/kg/hour of soluble insulin
Continue regular long acting SC insulin
Ongoing management:
Strict fluid balance monitoring
Monitor BP and GCS
Repeat blood glucose, ketones, blood gas and U&Es
Oral fluid resumed once ketosis resolving and no nausea/vomiting
Transition from IV to SC insulin once child well, drinking and eating and ketones <1 or pH normal
Liaise with diabetic team to prevent future episodes
What are the potential complications of DKA in children? How is the risk of these reduced and how are they managed if they do occur?
Cerebral oedema - occurs in children/adolescents but not adults, high mortality/morbidity, require regular neurological status examination , symptoms usually occur 4-12 hours after treatment started
Rehydrate slowly with isotonic fluids
Management - exclude hypo, restrict fluid, mannitol, ventilate, CT
Hypokalaemia - risk of life-threatening arrhythmias, monitor K+ and ECG, give K+ if needed
Aspiration pneumonia - reduced conscious, insert NG to reduce
Hypoglycaemia - include glucose in rehydration fluids as soon as BM <14
How does type 2 diabetes present in children?
Typical symptoms of hyperglycaemia - polydipsia, polyuria, fatigue, weight loss (less common), frequent infections, blurred vision
More insidious onset of symptoms - weeks-months
Behavioural problems - reduced school performance
Impaired growth
Strong FHx
Obesity
From Black/Asian background
Do not need insulin or need less than 0.5 units/kg/day after partial remission
Evidence of insulin resistance - acanthosis nigricans
How is type 2 diabetes managed in children?
Exercise and weight loss
Metformin - from diagnosis
Target HbA1c <48
Monitor for hypertension, dyslipidaemia, CKD, retinopathy, foot problems, periodonitis
May require insulin in some cases
Describe the epidemiology of hyperthyroidism in children
Relatively uncommon in childhood and adolescence
More common in girls, prevalence increases with age
Majority due to Grave’s disease
Neonatal thyrotoxicosis due to maternal history of autoimmune hyperthyroidism
Describe the clinical presentation of hyperthyroidism
Symptoms:
Weight loss/failure to thrive
Increased appetite
Rapid growth in height
Sweating
Heat intolerance
Fatigue
Anxiety, restlessness, irritability
Diarrhoea
Palpitations
Warm peripheries
Dyspnoea
Learning difficulties, behavioural problems - deteriorating school performance
Delayed or accelerated puberty - oligo or amenorrhoea
Signs:
Goitre
Fine tremor
Hyperreflexia
Tachycardia
Proximal muscle wasting
Hair loss
Thyroid eye disease - exophthalmos, ophthalmoplegia, lid retraction, lid lag
Pretibial myxoedema
Antibodies in thyroid disease
Anti-TPO - Grave’s and Hashimoto’s
Anti-TSH receptor - Grave’s
Anti-thyroglobulin - Hashimoto’s (also sometimes Grave’s)
How is neonatal thyrotoxicosis diagnosed?
If the mother has Graves’ disease the baby will have TFTs done between day 5-14 to check their thyroid levels
How is Grave’s disease managed in children?
Carbimazole preferred over propylthiouracil in children due to lower risk of side effects
Titrate or block and replace - titrate for 2 years then stop to see if they have gone into remission
Symptom relief - propranolol
Ophthalmology if eye disease
Definitive/long-term management
Radioiodine - not in <6, those with active eye disease or severe uncontrolled hyperthyroidism
Surgery - total thyroidectomy (in <6)
Lifelong monitoring and levothyroxine
How is neonatal thyrotoxicosis managed?
Usually self-limiting within 1-3 months, might require treatment with propranolol or carbimazole
What are the potential side effects of anti-thyroid drugs?
Minor - rashes, nausea, headaches
Agranulocytosis
Hepatitis
Acute pancreatitis
How does a thyroid storm present? How is it managed?
Presentation: fever, hyperthermia, tachycardia, hypertension leading to high output cardiac failure, GI dysfunction, CNS dysfunction and seizures
Treatment: IV fluids, ATD (large doses of propylthiouracil +/- iodide), propranolol (minimise adrenergic effects), hydrocortisone (high risk of adrenal insufficiency), treat precipitating factor (e.g. infection)
Describe the aetiology of hypothyroidism in children
Congenital -
Thyroid dysgenesis - developmental abnormality, doesn’t develop (agenesis) or develops poorly (dysgenesis)
Thyroid dyshormogenesis - anatomically normal thyroid, enzymatic defect means unable to produce hormone normally
Acquired - rare
Hashimoto’s
How does hypothyroidism present in children?
Usually picked up on newborn blood spot screening
If not:
Prolonged neonatal jaundice
Feeding difficulties
Lethargy, increased sleeping
Constipation
Hoarse cry
Slow growth and development
Large fontanelles
Hypotonia
Bradycardia
Distended abdominal with umbilical hernia
Goitre
List conditions associated with hypothyroidism in children
Sensorineural deafness
Chromosomal disorder - Downs, Williams, Turners
Autoimmune conditions - coeliac, T1DM
How is hypothyroidism in children managed?
Levothyroxine
Regular monitoring of growth, neurodevelopment and thyroid function (especially during first 2 years of life)
Can be trialled off levothyroxine at 2-3 years old to decide if lifelong treatment is required
What causes growth hormone deficiency in children?
Congenital:
Growth hormone 1 (GH1) or growth hormone releasing hormone receptor (GHRHR) gene mutations
Empty sella syndrome - pituitary under-developed or damaged
Acquired:
Infection
Trauma
Surgery
Irradiation
How does growth hormone deficiency present in children?
Birth/neonatal:
Micropenis
Hypoglycaemia
Severe jaundice
Older infants/children:
Poor growth, usually stopping or severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
What conditions are associated with growth hormone deficiency?
Chromosomal disorders - Turner’s syndrome, Prader-Willi syndrome
Other pituitary hormone deficiencies - hypothyroidism, adrenal insufficiency, gonadotrophin deficiency
How is growth hormonal deficiency diagnosed?
Growth hormone stimulation test - give medications which normally stimulate GH release (glucagon, insulin, arginine, clonidine) and measure GH levels
How is growth hormone deficiency managed?
Daily SC GH (somatropin)
Treat other associated hormone deficiencies
Close monitoring of height and development
List causes of short stature in children
NIDSCED
Normal genetic short stature
Constitutional delay in growth and/or adolescence - short and looks young
Intrauterine growth retardation
Dysmorphic syndromes e.g. Down’s, Turner’s
Skeletal dysplasias e.g. achondroplasia
Chronic systemic disease e.g. IBD, chronic renal failure, cystic fibrosis, severe asthma
Endocrine disorders
Dire social circumstances - severe psychosocial deprivation
Describe the cause of primary, secondary and tertiary adrenal insufficiency
Primary - Addison’s disease (usually autoimmune cause)
Secondary - inadequate ACTH stimulating adrenal glands, due to pituitary gland dysfunction
Tertiary - inadequate CRH release by hypothalamus, usually due to suppression by long-term steroid treatment
Describe the presentation of adrenal insufficiency in children
Babies:
Lethargy
Vomiting
Poor feeding
Hypoglycaemia
Jaundice
Failure to thrive
Older children:
Nausea and vomiting
Poor weight gain or weight loss
Reduced appetite
Abdominal pain
Muscle weakness or cramps
Developmental delay
Hyperpigmentation of skin - high ACTH
How is adrenal insufficiency diagnosed in children? What will the findings be in adrenal insufficiency?
U&Es - hyponatraemia, hyperkalaemia
Blood glucose - hypoglycaemia
Cortisol, ACTH, aldosterone, renin
Primary:
Low cortisol
High ACTH
Low aldosterone
High renin
Secondary:
Low cortisol
Low ACTH
Normal aldosterone
Normal renin
Short synacthen test - ACTH stimulation test
Failure to cortisol to rise = Addison’s
How is adrenal insufficiency managed?
Steroid replacement titrated to signs, symptoms and electrolytes
Hydrocortisone to replace cortisol
Fludrocortisone to replace aldosterone
Increase dose during acute illness
Monitor growth and development, BP, U&Es, glucose, bone profile, vitamin D
How does Cushing’s disease present in children?
Weight gain with growth impairment
Other symptoms - hypertension, hirsutism, amenorrhoea, delayed sexual development, virilisation, skin problems (acne, striae, bruising, acanthosis nigricans)
What causes Cushing’s in children?
Rare
Most common cause - exogenous steroid administration
Most common endogenous cause - ACTH-secreting pituitary microadenoma
How is Cushing’s disease managed in children?
Exogenous steroid - taper dose
Trans-sphenoidal resection of microadenoma
Pituitary irradiation
List causes of gonadal axis failure in children
Kallmann’s syndrome - reduced sense of smell and hypogonadism, failure to produce gonadotropin-releasing hormone
Primary ovarian failure - Turner’s syndrome, total body irradiation prior to BM transplant for leukaemia
Primary testicular failure - surgery for cryptorchidism, Klinefelter’s syndrome, total body irradiation
List causes of diabetes insipidus
Neurogenic - decreased circulating levels of ADH
Mutations in ADH gene
Idiopathic
Tumours - pituitary adenomas or craniopharyngiomas
Trauma
Infections
Vascular e.g. Sheehan’s syndrome
Sarcoidosis
Haemachromatosis
Nephrogenic - impaired ADH binding or reabsorption
Mutations in ADH receptor gene
Mutations in aquaporin-2 gene
Metabolic - hypercalcaemia, hyperglycaemia, hypokalaemia
Drugs - lithium, demeclocycline
Chronic renal disease
Amyloidosis
Post-obstructive uropathy
How does diabetes insipidus present in children?
Excessive urination - >3L/24 hours
Excessive thirst
Nocturia, eneuresis
Dehydration - dry mucous membranes, prolonged CRT, reduced skin turgor
Hypotension
Dilute urine
How is diabetes insipidus investigated?
24-hour urine collection
Bloods - plasma glucose, U&Es, urine specific gravity, simultaneous plasma and urine osmolality
Fluid deprivation test - then give desmopressin
How is diabetes insipidus managed in children?
Mostly primary polydipsia - don’t need investigation or management, restrict drinking
Neurogenic - replacement with desmopressin
Nephrogenic - drink enough to satisfy thirst, correct metabolic abdnomalities, sometimes high-dose desmopressin
When should a child’s growth be investigated?
Height <3rd centile
Height velocity low for age (and for Tanner Stage)
Out-with the mid-parental height range
How should a child of short stature be assessed?
FHx:
Parents’ height
Parents’/siblings history of height and puberty
Consanguinity
PMHx:
Birth weight
Perinatal history
Other conditions
Medication
Current concern:
Duration of problem
Weight changes
Other current symptoms
Baseline investigations:
FBC
ESR
U&E
LFT
Bone profile
IGF-1
TSH, fT4
Coeliac Abs
Bone age - X-ray
Karyotype (girls- when suspicion for Turner)
Describe bone growth in children
Epiphyseal plates (growth plates) at the ends of long bones which allow bones to grow in length
Made of hyaline cartilage, between epiphysis and metaphysis
Once epiphysis and metaphysis fuse during teenage years, the growth plates become the epiphyseal lines
Bones grow through officiation of cartilage matrix by osteoblasts
Under influence of growth hormone and sex hormones (oestrogen/progesterone)
Continue to grow in diameter throughout adulthood in response to stress from increased muscle activity/weight - osteoblast deposition and osteoclast resorption
List differences between fractures in adults and children
Fracture patterns - buckle fractures, plastic deformation and greenstick fractures (more bendy, less brittle)
Time to healing - femoral fractures heal in ‘age in years + 1’ weeks, physeal fractures heal in 2-3 weeks (much quicker than adults)
Remodelling - increased capacity for remodelling, especially in <8, close to joint, where residual deformity is in plane of joint (rotational deformities do not remodel)
Treatment - complications of immobility (DVT, stiffness, osteoporosis, pressure sores) don’t occur in children, relies on plaster casts and percutaneous fixation with K-wires (in adults rigid internal fixation used more)
Describe principles of fracture management in children
Mechanical alignment of fracture:
Closed reduction - manipulation of joint
Open reduction - surgery
Stability:
External casts
K wires
Intramedullary wires/nails
Screws
Plates
Pain management
Step 1 - paracetamol or ibuprofen
Step 2 - morphine
Remember safeguarding - does the story make sense? Has this happened before?
Which pain medications are contraindicated in children?
Codeine and tramadol - unpredictability in metabolism
Aspirin (contraindicated in <16) - Reye’s syndrome, unless in Kawasaki disease
List the features of benign leg pain complex
Nocturnal - wake suddenly from sleep with cramp-like pains, return to sleep with simple measures
Simple measures - massage, reassurance, simple analgesia
Functionally normal the next day
Often bilateral, or changes site on different occasions
Relationship to exercise previous day
Resolves next day
Primary school age
Examination normal
Investigations normal
Describe fractures of the growth plate and their classification
Salter-Harris classification - higher grade more likely to disturb growth
SALTR
Type 1 - Straight across
Type 2 - Above
Type 3 - BeLow
Type 4 - Through
Type 5 - CRush
Characteristics:
Type 1 - separation of growth plate without involvement of metaphysis or epiphysis (most commonly at distal fibular epipysis)
Type 2 - across growth plate, small fragment of metaphysis attached to epiphysis (distal radial epiphysis)
Type 3 - across growth plate, extension into epiphysis (distal tibial epiphysis, epiphysis of proximal and middle phalanges)
Type 4 - fracture line through epiphysis and part of diaphysis (lateral condyle in elbow and distal tibial epiphysis)
Type 5 - crush injury, diagnosed due to deformity retrospectively (rare, most common at distal tibial epiphysis)
Describe the prognosis of Salter-Harris fractures
Salter-Harris I, II, III - usually no problems with growth, no deformity
Salter-Harris IV - potential for malunion, formation of bony bridge with disturbance in growth if not anatomically reduced
Salter-Harris V - diagnosed retrospectively due to deformity, poor prognosis, bone growth arrest
List the types of fracture which are more common in children
Torus (buckle)
Greenstick
Plastic deformity
Epiphyseal (Salter-Harris)
How is a a paediatric MSK condition defined as a normal variant? List common normal variants.
Exclusion of underlying pathologies
Symmetrical deformity
No symptoms, underlying systemic illness or skeletal dysplasia
No stiffness on examination
(5 Ss)
Common normal variants:
In/out-toeing
Bow legs
Flat feet
Curly toes
Describe the presentation of Osgood-Schlatter’s syndrome
Usually boys 10-15 who are physically active
Pain over tibial tuberosity at insertion of patellar ligament
May be accompanied by swelling and local tenderness
Usually unilateral, can be bilateral
Visible or palpable hard and tender lump at the tibial tubersoity
Pain exacerbated by physical activity, kneeling and on extension of the knee
Describe the pathophysiology of Osgood-Schlatter syndrome
Overuse syndrome
Stress from running, jumping etc. while there is growth at the epiphyseal plate (at tibial tuberosity) causes patellar tendon. to pull away tiny pieces of the tibia (avulsion fractures), stimulates bone growth which causes enlarged tibial tuberosity
Initially bump is tender due to inflammation, but as bone heals and inflammation settles it becomes hard and non-tender
How is Osgood-Schlatter’s syndrome managed?
Restrict physical activity
Ice
NSAIDs (ibuprofen) for symptomatic relief
Once symptoms settle - stretching and physio
Symptoms usually resolve over time, left with bony lump on knee
Describe the presentation of anterior knee pain and its management
Anterior knee pain which may radiate to posterior joint
Aggravated by activities such as squatting, going up stairs, sitting for knee flexed for prolonged periods of time
May be tender over articular surface of patella
Management:
Activity modification to avoid precipitating factors
Quadriceps strengthening exercises
Tends to come and go throughout adolescence and young adulthood
Describe the presentation of a pulled elbow, its pathophysiology and management
Toddler after acute episode of longitudinal traction of the arm
Crying child who refuses to move elbow
Pathophysiology - radial head partially slips from enfolding annular ligament
Management:
Exclude fracture
Reduce by supination and pronation of forearm with elbow flexed
List the 5 MSK conditions which should be screened for at the newborn check
Erb’s palsy
Supernumerary digits
Foot deformities (differentiate fixed from postural deformities)
Hip examination - developmental dysplasia of the hip
Congenital muscular torticolis
Describe the differential diagnosis of hip pain in children of different ages
0-4 years:
Septic arthritis
Developmental dysplasia of the hip
Transient synovitis
5-10 years:
Septic arthritis
Transient synovitis
Perthe’s disease
10-16 years:
Septic arthritis
Slipped upper femoral epiphysis
Juvenile idiopathic arthritis
What are the red flags for hip pain in children?
<3
Fever
Waking at night with pain
Weight loss
Night sweats
Fatigue
Persistent pain
Morning stiffness
Swollen or red joint
How should a child with hip pain be investigated?
Bloods - FBC, CRP, ESR
X-ray - fractures, SUFE, other bony pathology
US - effusion
Joint aspiration - septic arthritis
MRI - osteomyelitis
What is the differential diagnosis of an acute limp in childhood?
<3 years
Fracture of soft tissue injury - ‘Toddler fracture’, sprain/strain, remember NAI
Developmental dysplasia of the hip
3-10 years
Transient synovitis
Fracture or soft-tissue injury - consider stress fracture, NAI
Perthe’s disease
10-19 years
Fracture or soft tissue injury - consider stress fracture, NAI
Slipped upper femoral epiphysis
Perthe’s disease
Osgood-Schlatter disease
Sever’s disease
Osteochondritis dissecans
Chondrolmalacia patellae
Any age:
Septic arthritis and osteomyelitis
Other infections e.g. discitis
Malignancy - primary bone tumours, soft tissue sarcoma, leukaemia, lymphoma
Non-malignant haematological disease - sickle cell disease, haemophilia
Metabolic disease e.g. Ricket’s
Inflammatory muscle or joint disease - juvenile idiopathic arthritis and Lyme arthritis
Neuromuscular disease - cerebral palsy, spina bifida
Muscular dystrophies - Duchenne’s, Becker’s
Primary anatomical abnormality - limb length discrepancy
Non-MSK conditions - intra-abdominal pathology (inguinal hernia, appendicitis) and inguinoscrotal disorders (testicular torsion)
How should a limping child be assessed?
History -
Duration and progression of limp
Trauma?
Consider NAI
Precipitating factors
Associated pain, muscle weakness
Red flag features
Birth and developmental history
Family history
Examination -
Signs of infection
Signs of malignancy - rash, lymphadenopathy
Growth
MSK - pGALS
Investigations -
X-ray if trauma, overuse, systemic symptoms
If systemic symptoms - FBC, ESR, CRP
Joint aspiration - septic arthritis suspected
MRI if suggestive of serious condition
What are the red flag symptoms/signs of back pain in children?
<4 years old
Night pain
Functional disability
Postural shift
Lasting >4 weeks
Limitation of movement due to pain
Neurological signs - weakness, sensory loss, neuropathic pain, headaches, bowel/bladder dysfunction, saddle anaesthesia
Sudden onset severe, constant and unremitting
Systemic symptoms - fever, chills, weight loss, night sweats
Morning stiffness >30 minutes
Immunocompromised, previous malignancy
Describe the differential diagnosis of back pain in children
Muscular strain
Trauma and structural disorders - spondylolysis, spondylolisthesis, IVD herniation, Scheuermann’s kyphosis, apophyseal ring fracture
Discitis
Inflammatory - juvenile idiopathic arthritis, ankylosing spondylitis
Neoplasms - benign (osteoid osteoma, osteoblastoma, haemangioma), malignant (Ewing’s sarcinoma, lymphoma, neuroblastoma, metastatic disease)
Sickle cell disease
Pyelonephritis
Referred abdominal pain
Psychogenic
What is the differential diagnosis of scoliosis in children?
Congenital
Neuromuscular - DMD, cerebral palsy, CMT
Adolescent idiopathic
Post-traumatic, post-inflammatory, post-radiation
Skeletal dysplasia
Tumour - benign, malignant, metastatic
What is the most common cause of joint swelling in children?
Reactive arthritis, including transient synovitis of the hip, Reiter’s syndrome, rheumatic fever
Describe the presentation of transient synovitis of the hip
Age 3-10
Often within a few weeks of a viral illness
Acute or gradual onset
Limp
Refusal to weight bear
Groin/hip pain
May have mild low-grade fever
Limited range of motion - most commonly abduction affected
Otherwise well - no signs of systemic illness
How is transient synovitis of the hip managed?
Self-limiting, lasts 7-10 days
Bed rest
Activity restriction
Analgesia - paracetamol and NSAIDs
How does Reiter’s syndrome present? List the associated conditions.
Acute monoarthritis, most commonly affecting knee
Warm, swollen, painful joint
Triggered by infection - gastroenteritis, STIs (chlamydia, gonorrhoea)
Link with HLA-B27
Associations:
Bilateral conjunctivitis
Anterior uveitis
Circinate balanitis
How is reactive arthritis managed?
Rule out septic arthritis - aspirate
NSAIDs
Steroid injections
Systemic steroids?
Most resolve and don’t recur
How is reactive arthritis managed?
Rule out septic arthritis - aspirate
NSAIDs
Steroid injections
Systemic steroids?
Most resolve and don’t recur
Describe the pathophysiology of Rheumatic fever
Autoimmune condition triggered by group A beta-haemolytic streptococcal infection (usually tonsillitis)
How does rheumatic fever present?
Fever
Joint pain - migratory arthritis affecting large joints, with hot, swollen, painful joints
Rash
Shortness of breath
Chorea
Subcutaneous nodules, erythema marginatum
Heart involvement - pericarditis, myocarditis, endocarditis
How is rheumatic fever diagnosed?
Throat swab
Anti-streptococcal antibody titres
Echo, ECG, CXR
How is rheumatic fever managed?
Treat streptococcal infection - penicillin V
NSAIDs
Aspirin/steroids
Prophylactic Abx - prevent further strep infections
Monitoring and management of complications
Define juvenile idiopathic arthritis and list the subtypes
Arthritis without any other cause, lasting >6 weeks in a patient <16
Subtypes:
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis-related arthritis
Juvenile psoriatic arthritis
Describe the scoring system used for croup
Westley croup score
Mild - 0-2
Moderate - 3-5
Severe - 6-11
Impending respiratory failure - 12-17
Compare the features of croup and epiglottitis
Describe the fetal circulation before birth and compare to the adult circulation
Placenta is source of oxygen
Lungs are non-functional, provide no oxygenation
High energy demands of developing tissue, particularly brain
Flow of blood:
Umbilical arteries - transport deoxygenated blood back to placenta
Umbilical vein - oxygenated blood from placenta
Ductus venosus - blood bypasses the liver to IVC
IVC –> right atrium
Foramen ovale creates shunt between right atrium and left atrium, bypass lungs to aorta
Blood which gets to right ventricle goes through ductus arteriosus which connects the pulmonary artery to the aorta
From aorta to rest of body
Describe the diagnostic criteria for infective endocarditis
Duke’s criteria -
Two major
One major and three minor
Five minor
Describe the differences between ulcerative colitis and Crohn’s disease
Smoking increases risk of Crohn’s, decreases risk of UC and symptoms improve with smoking
Crohn’s - colicky abdominal pain and diarrhoea, less common to have blood/mucus
UC - PR bleeding and mucus, increased frequency and urgency of defecation, tenesmus, diarrhoea
