Right ventricular hypertrophy
ASD (ostium secundum), also look for RSR in V1
Hypoplastic left heart
Left ventricular hypertrophy
Partial AVSD (ostium primum) with RSR in V1
Cardiac pacing
Complete AVSD (think Down’s)

• Voltage criteria:

– Right hypertrophy

– Left

Pulmonary stenosis
ASD
Cor pulmonale
Eisenmenger’s reaction
VSD or AVSD
Aortic coarctation or stenosis
Hypertension.

A chest radiograph may be helpful in the diagnosis of congenital heart disease, and may be performed along with an ECG in hospitals with limited availability of echocardiography. The X-ray film should be analysed for:

1. Heart size and cardiothymic silhouette.

2. Size and prominence of the specific cardiac chambers and great arteries.

3. Pulmonary vascular markings and pulmonary plethora/oligaemia.

4. Associated abnormalities in bones/lungs/abdominal viscera (e.g. situs inversus, midline liver in asplenia/polysplenia, rib notching in older child with coarctation of the aorta, absent thymus in Di George).

Classical appearances in congenital heart defects include:

1. The ‘boot-shaped heart’ with oligaemic lung fields seen in cyanotic tetralogy of Fallot or some children with tricuspid atresia.

2. The ‘egg-shaped heart’ with plethoric lung fields and narrow pedicle in the cyanotic infant with transposition of the great arteries.

3. The ‘snowman in a snowdrift’ with plethoric lung fields and dilated SVC seen in supracardiac type of total anomalous pulmonary venous drainage (TAPVD).

COMMENTS ON STATION 2

DIAGNOSIS: BILIARY ATRESIA

The most important diagnosis to exclude in this child is biliary atresia, a condition with incidence 1 in 10 000 to 1 in 20 000 births, characterised by inflammation and subsequent obliteration of the extrahepatic biliary tract. This process may begin in utero and the pathological stimulus is still unknown. The definitive diagnosis is usually made by liver biopsy; however, information from liver ultrasound scan, duodenal aspirate analysis, endoscopic retrograde cholangiopancreatography (ERCP) or hepatobiliary scintigraphy may indicate the diagnosis.

It is particularly important to make the diagnosis by 2 months of age as the success of the operative treatment (Kasai procedure or hepatoportoenter- ostomy) is significantly reduced after this time. This procedure enables the infant to grow and improve in nutritional state, and allows the definitive treatment of liver transplantation to be delayed. Without treatment hepatic failure will develop, with marked pruritus being a common problem in the late presenters (treat with cholestyramine). Regardless of whether a Kasai procedure is performed or not it is vital to ensure good growth and nutrition.

In the case of a jaundiced baby, your differentials will be guided by the age of the child and the clinical findings:

• A breast-fed child less that 3 weeks old with a ‘yellow’ jaundice, normal stool and no other clinical finding is likely to have ‘breast milk jaundice’.

• A 2-month-old with mild ‘green’ jaundice, hepatomegaly, and a right hypochondrial incision may be post-Kasai procedure for biliary atresia.

• A 4-month-old with ‘green’ jaundice plus hepatomegaly, a central abdominal scar, abnormal umbilicus and a central line may well have TPN-induced conjugated jaundice (following surgery for neonatal necrotising enterocolitis or gastroschisis repair).

At the end of the examination in this case it is important to ask for the following:

1. Check the colour of the stool – grey is bad!

2. Urine sample dipstick for evidence of infection, reducing substances (as found in galactosaemia), and bilirubin.

3. Plotted weight, head circumference and length on the appropriate chart.

4. Blood pressure.

The management of an infant with prolonged jaundice is one of the most common scenarios faced by paediatricians all over the world. There are many causes of jaundice in this age group, lists of which can be found in any paediatric textbook, and as such a structure to the history, examination and investigation is paramount.

History	Gestation at birth
	Birth trauma/cephalohaematoma
	Method of feeding
	Parenteral nutrition
	Significant family history
	Maternal and infant blood group
	Colour of urine and stool
Examination	Dehydration
	Dysmorphism, e.g. Alagille’s
	Bruising
	Pruritus
	Hepatomegaly
	Other features of note
	Inspect stool (e.g. pale stools and dark urine)
Initial investigation	Full blood count and reticulocytes
	Blood film
	Group and Coombs’
	Packed cell volume
	Total and conjugated bilirubin
	Liver function test
	Urine: microscopy and culture
	Urinary bilirubin
Further tests	G6PD assay
	Urine metabolic screen
	Thyroid function
	TORCH
	Hepatic serology
Investigating conjugated	Clotting
hyperbilirubinaemia (function)	Blood sugar
Investigating conjugated	Liver ultrasound
hyperbilirubinaemia (diagnosis)	HIDA scan
	Liver biopsy
	α₁-Antitrypsin
	Detailed endocrine investigation
	Bilirubin transport/conjugation defects
	Detailed metabolic investigation

One would usually investigate a jaundiced infant at 2 weeks (if term and formula fed), 3 weeks (if pre-term or breast-fed) or as a matter of urgency if there is a history of jaundice accompanied by pale/grey/acholic stools and dark urine or the infant is systemically unwell (e.g. possible sepsis).

COMMENTS ON STATION 3

DIAGNOSIS: FRIEDREICH’S ATAXIA

This 10-year-old girl looks well but has some subtle signs of instability of her gait and has definite sensory ataxia (positive Romberg’s). The joint position sense was abnormal at both great toes. This pattern of abnormality is consistent with posterior column spinal cord dysfunction.

As well as remembering to examine coordination it would be useful to examine her vibration sense and two-point discrimination as these are also carried by fibres in the posterior columns.

Romberg’s test is designed to detect the inability of a patient to maintain a steady standing position with one’s feet together and eyes closed. You should position the patient standing on a flat surface. You may give the patient a gentle nudge to see if they are able to compensate and maintain their balance. You should always be nearby to catch them should they start to fall. A positive Romberg’s test suggests a vestibular dysfunction, cerebellar ataxia or a proprioceptive dysfunction.

Posterior column degeneration in the spinal cord is a feature of Friedreich’s ataxia.

Friedreich’s ataxia is an autosomal recessive degenerative neurological condition. It is one of the most common inherited ataxias, occurring in 1 in 50 000 Caucasians. For those interested, the genetic abnormality is usually a homozygous expansion of the trinucleotide repeat (GAA) sequence in intron 1 of the frataxin gene (chromosome 9q13). The instability caused by these trinucleotide expansions leads to a reduced production of the gene product, a mitochondrial protein called frataxin, thought to have a role in the regulation of iron metabolism.

The major clinical manifestations of Friedreich’s ataxia are progressive neurological dysfunction, cardiomyopathy and diabetes mellitus. The disease presentation is variable but early loss of joint position sense and vibration sense is typical. There is preservation of pain and temperature sensation. A progressive ataxia of all four limbs and gait occurs as a result of cerebellar dysfunction, often by 15 years of age.

The following pattern may be seen on examination:

There is no established treatment for Friedreich’s ataxia but a multidisci- plinary team approach is essential. Antioxidant mechanisms and supplementation (idebenone, coenzyme Q10 and vitamin E) are under investigation as treatment options.

REMINDER

The mnemonic DANISH is used to look for signs of cerebellar dysfunction:

COMMENTS ON STATION 4

DIAGNOSIS: BRONCHIECTASIS; CLEFT LIP AND PALATE; HEARING IMPAIRMENT

A cleft palate (with or without cleft lip) is a common finding, with an incidence of 1 in 1000 live births. If you perform a deeper oral examination of this child’s mouth you may find a bifid uvula, an abnormality present in 1 in 80 patients with cleft palate. A speech assessment may show nasal speech or evidence of delay due to the associated deafness.

It will be useful to practise giving yourself complicated findings to present to a colleague so that your ability to be precise and confident is improved. In this case it would be advisable to go along the following lines:

’This 5-year-old boy looks comfortable at rest. I note he has bilateral hearing aids and previous facial surgery consistent with a repair of a congenital cleft lip and palate. He is clubbed in his fingers, consistent with chronic respiratory disease, and on examination of his chest I note that he has a portacath in situ on the left side and a scar in a similar position on the right side. He has diffuse, coarse breath sounds but no evidence of focal consolidation or effusion. The liver is not enlarged or displaced. My primary differential diagnosis is of bronchiectasis with associated bilateral conductive hearing impairment and a repaired cleft palate and lip.’

In a child with bronchiectasis and hearing impairment it would be important to ensure the heart sounds are auscultated and apex position checked for dextrocardia, as is found in 50% of cases of primary ciliary dyskinesia. The liver may be found on the left side in situs inversus.

The standard bedside tests for the respiratory system should include the following:

1. Plot the height, weight and head circumference on the appropriate chart.

2. Peak flow measurement or pulmonary function testing.

3. Ear, nose and throat examination.

4. Sputum sample inspection.

In the case presented it would be important to check the observation chart for pyrexia suggesting an infective exacerbation.

Clubbing is a core respiratory sign (but be aware of the non-respiratory causes too) and it is essential you can clearly demonstrate it to the examiner. One should initially view the finger from the side and observe any excess convex curvature. The nail-bed should be tested for fluctuance and then the nail-bed angle checked by placing the nails of both index fingers together.

REMINDER

Underlying causes of bronchiectasis

Mechanism	Causes
Respiratory	Bronchiolitis obliterans Severe asthma Previous severe pneumonia Pertussis
Genetic	Cystic fibrosis α₁-Antitrypsin deficiency Primary ciliary dyskinesia (autosomal recessive)
Mechanical	Previous inhaled foreign body H-type tracheo-oesophageal fistula
Immune deficiency	Hypogammaglobulinaemia IgA deficiency
Idiopathic

COMMENTS ON STATION 5

DIAGNOSIS: TUBEROUS SCLEROSIS

The finding of adenoma sebaceum (angiofibromas) as described would make you consider the diagnosis of tuberous sclerosis.

Tuberous sclerosis is a multi-system neurocutaneous disorder associated with a predisposition to benign tumours, most commonly in brain, skin and kidneys. It is an autosomal dominant condition, with an incidence of 1 in 5000 to 1 in 10 000 live births.

In this dominant condition one-third of cases are familial and the remainder (non-familial) are due to spontaneous germ line mutations or mosaicism. There is full penetrance of the condition, but marked variability of phenotypic expression even among affected individuals within the same family.

In the case described it would be important to be systematic in your further examination, perhaps working from head to toe (a cranio-caudal approach). In tuberous sclerosis there are a multitude of features that you could discuss. You may wish to ask if a UV or Wood’s light is available in order to demonstrate hypomelanotic patches more clearly, or offer to perform fundoscopy to identify retinal hamartomas.

Major features of tuberous sclerosis are:

Minor features of tuberous sclerosis are:

• Multiple randomly distributed pits in dental enamel

• Hamartomatous rectal polyps

• Bone cysts

• Gingival fibromas

• Multiple renal cysts

• Non-renal hamartomas

• Retinal achromic patch

• Cerebral white matter radial migration lines

• Skin tags (molluscum fibrosum pendulum).

To show your understanding of how the disease may present with infantile spasms it may be useful to ask the mother how the child was first diagnosed and whether he has suffered with any seizures (present in 65% of cases). It may also show an understanding of the management of the condition if you ask about any extra help he may receive at home or in the classroom in light of special educational needs.

Behavioural and psychiatric problems are common in tuberous sclerosis and often it is this aspect of the condition which causes the most distress to the family. Autistic spectrum disorder occurs in up to 50% of cases, while disruptive behaviour patterns, hyperactivity and attention impairment may be present in up to 60%. A multidisciplinary team approach is necessary for the holistic management of tuberous sclerosis. Family screening and genetic counselling should be offered to the family to discover any other sufferers, and to quantify the risk for future pregnancies.

REMINDER

There are two causative genes for tuberous sclerosis, and each gene may have a variety of mutation types. TSC1 (9q34) encodes the protein hamartin, while the TSC2 (16p13.3) gene encodes the protein tuberin. Tuberin and hamartin interact to provide regulation of the cell cycle. Interestingly, a subgroup of patients have a genetic abnormality spanning the TSC2 gene and the nearby PKD1 gene (encoding polycystin-1) and are found to have severe early-onset polycystic kidney disease.

COMMENTS ON STATION 6

DIAGNOSIS: GROSS DEVELOPMENTAL DELAY (UNDERLYING CAUSE NOT NEEDED)

The developmental station is not designed to test your knowledge of syndromes and rare developmental disorders. You are to show the examiner that you are able to undertake a structured approach to assessing the developmental progress of a child, and then be able to identify any areas of concern.

In this case you have a child with profound developmental delay, including hearing and vision impairment. The tests used for the formal assessment of hearing and vision should be clearly understood as they are key investigations to aid the community paediatrician presented with a child showing developmental delay.

HEARING

The majority of paediatric doctors will not themselves be involved in performing specific audiology tests; however, it is essential to be able to describe the tests available. More importantly, you should know which test is appropriate for the child presented to you. As a crude bedside test you may choose to assess the child’s response to a noise or ability to repeat words, but taking a history from the parent is probably the more reliable indicator in a young child. You should be able to describe the following tests and interpret an audiogram.

TESTS FOR INFANTS UNDER 6 MONTHS OF AGE

The Newborn Hearing Screening Programme (NHSP) is introducing hearing tests for all newborn babies in the UK within the first weeks of life.

1. Oto-acoustic emissions test: This is the most commonly used newborn screening test. A computer-generated ‘click’ is played through a small speaker in an earpiece placed in the child’s ear. A microphone (also in the earpiece) then listens for a soft echo, detectable if a healthy cochlea is present. The test is analysed by the computer and gives a ‘pass/fail’ result.

2. Automated auditory brain stem response test: This is also a screening test. The child has headphones placed over the ears and three small sensors are attached to the head. The child should be sleeping for the test. The headphones play a series of tones to the child, and a computer analyses the cerebral electrical responses. This tests both cochlear and auditory nerve function. A ‘pass/fail’ result is reported by the computer.

3. Auditory brain stem response test: If the screening test is failed, the child will be referred for this more detailed test. With a similar set-up to the automated test, the audiologist plays a series of sounds of different amplitudes and frequencies through the headphones while the sensors again transfer information to the computer. A record of the brain stem responses at the varying frequencies is provided and gives detailed information about the child’s hearing.

TESTS FOR INFANTS 6 MONTHS TO 2½ YEARS OF AGE

1. The distraction test: This is often known as the health visitor distraction test or the infant distraction test. It may be performed as a screening test, although it is being phased out with the introduction of newborn hearing screening. It is usually performed when the child is 7–9 months old. It requires two trained staff: the first to sit behind the child and make standardised test noises (such as the Manchester rattle, warbler, Nuffield rattle or a trained voice), varying them in frequency, while the second observes the child’s response to the sound. The reliability of this test is improved by it being performed in the audiology clinic. The child must be able to sit unsupported and have good head control.

The following behavioural tests are tests involving toys and play techniques in which the child listens for a variety of different sounds as part of a game.

2. Visual reinforcement audiometry test:

• Loudspeakers: Specific sounds are played through loudspeakers to the child, who is then observed for a response. On turning to the sound the child will be rewarded by a visual display (the lighting up of a toy or puppet).

• Bone conduction: A vibration is generated through a device placed on each side of the child’s head (bypasses middle ear) and the response observed.

• Inserts: Headphones are used instead of loudspeakers. This allows a more accurate assessment of hearing at different frequencies and amplitudes and will allow an audiogram to be produced.

TESTS FOR CHILDREN 2½ YEARS OF AGE AND ABOVE

1. Speech discrimination test: The examiner tests the child’s ability to hear words at different volume levels without visual information.

2. Pure tone audiometry test (air and bone conduction): An audiometer produces pure sounds at certain frequencies and loudness, or vibrations at certain levels, and the child must respond with a button press or with a movement as part of a game.

3. Auditory steady-state evoked response test: This is similar to the automated auditory brain stem response test and involves the analysis of cerebral electrical activity monitored in response to sounds played into the ear by headphones.

VISION

Vision is an important sense that is key to the development of communication skills, orientation and movement, the activities of daily life (ADL) and sustained near-vision tasks like reading and writing. In order to ensure the most appropriate interventions and provision of special educational services, we must assess visual functioning and ability in each of these four areas.

In the examination you may be required to ’examine the eyes’ in the neurology or ‘other’ stations, in which case an assessment of acuity, visual fields, eye movements including squint, pupillary reaction and fundoscopy would be expected. In the developmental station you may wish to approach vision and fine motor development together, aiming to assess the functional application of vision and/or its impairment. For example, by assessing the ability of the child to fix and follow a face, reach for toys or pick up hundreds and thousands from the table you will be able to comment on the visual acuity of the child. If there appears to be significant delay in fine motor skills (as in this case) you should offer a more formal eye examination.

A knowledge of age-appropriate tests and findings is essential (see table opposite). These tests are used as screening tests or as part of an initial examination in those at risk of visual defects. If any abnormality is found, the child should be referred to an ophthalmologist for formal assessment of their vision. In the areas described the child in this question has a global developmental delay with area-specific ages:

• Gross motor: 2–4 months

• Fine motor: 2–4 months

• Vision: significant visual impairment

• Speech, language and hearing: 2–3 months

• Social, emotional and behaviour: 6 weeks.

The key principle with development is to work through a checklist of milestones in your mind and the approximate age of acquisition. If for each area of development you can reach a ‘passed milestone’ and a ‘failed milestone’ you can then build up an assessment of the child’s developmental age and present it to the examiner clearly.

Age	Test or developmental level
Newborn	Check for red reflex (retinoblastoma), cataracts, ptosis, enlarged eyes (glaucoma)
6 weeks	Expected to fix and follow faces/light for 45°
8-12 weeks	Social smile and effective interaction, fix and follow for 180°
6-8 months	Eyes should be aligned, only intermittent brief squint acceptable (e.g. when sleepy); hand regard, hands to mouth, directed reaching and transferring objects
9-11 months	Grip development, recognise family versus strangers from face
1 year	Pick up individual ’hundreds and thousands’ (pincer grip)
2-3 years	Preferential looking or picture card tests for visual acuity, cover test for squint
3 years	Sheridan-Gardner test (letter-matching test)
4 years plus	Snellen chart (standardised test of visual acuity)

For example, Jimmy was able to do this but not yet able to do that; therefore his gross motor developmental age is approximately x months.

COMMENTS ON STATION 7

It is essential when entering the room to be clear that you are in a role-play and you are to take on the character assigned in the instructions. You will be welcomed in briefly by the examiner and shown to the ‘subject’, in this case James’ mother. You should then introduce yourself clearly to that person.

The following would be appropriate:

’Good morning, my name is Dr X and I am the registrar working with your consultant. Thank you for meeting with me today. Please take a seat. I have made this time available for us to catch up with James’ progress and for me to keep you updated on any developments.’

It is polite and shows your understanding of the delicate nature of what you are about to say if you offer the mother the opportunity to call anyone else that she wishes to be present (e.g. her partner).

The topic of MRSA is commonly bandied across the tabloids and broadsheets so most people will have heard and come to an opinion about it. It would therefore be important to mention the word ‘MRSA’ and then ask what the term meant to the mother.

You could continue by saying that Staphylococcus aureus is found to colonise 30% of the general population. MRSA is one type of this bacteria and can also be found on the skin of healthy people in the community, as well as colonising hospital populations. You can link on to talking about how it is routinely tested for when patients transfer from one hospital to another, mentioning those patients then have decontamination treatment of the skin and nose.

It is important to let an aggressive mother have her say. Never interrupt her; simply wait for an opportune break and then perhaps say how you can understand why she might be concerned about such news. You can reassure her that the MRSA bacteria can be treated and that her son is well and will only require topical antibiotics. Remember, you are in an exam and the mother is likely to be played by a hospital worker or paid actress and will have a set agenda. She will also be aware that she must give you an opportunity to talk!

If the mother is using the term ‘killer bug’ it implies that she is concerned for the life of her child. Be sympathetic; in this case reassurance would be possible. Were you to be given the scenario that James is suffering from MRSA sepsis you may well have to explain what treatments are on offer and that you will of course be monitoring him for any change in his condition.

The mother may ask you, ‘Does it mean the tertiary hospital is unclean?’. It would be rather unprofessional and uncharitable to answer this question in the positive! MRSA is a much more ubiquitous organism than it once was. You must make the mother aware of this and how every unit will have a policy for dealing with MRSA. The finding of MRSA does not mean James contracted it there. There are systems in place at all hospitals to prevent spread of infection but you will of course feed this information back to the tertiary hospital.

COMMENTS ON STATION 8

It is important to introduce yourself politely and professionally. You are the registrar in paediatrics and should refer to yourself as ‘Dr X’. If you have not been given the name of the mother you should ask it so that you can refer to her easily through the rest of the interview.

The history given suggests that David has had a systemic reaction to the peanut butter with associated wheeze. This would be classed as an anaphylactic reaction in the presence of an atopic family history. Subsequent reactions could be worse and you must be aware of life-threatening features:

• Stridor due to laryngeal and pharyngeal oedema (tongue, lips and uvula)

• Severe bronchospasm

• Hypotension due to systemic vasodilation

• Hypovolaemia (capillary leak).

Generally the management plan would be dependent on the reaction the child had suffered, the feelings of the mother and the services available to your hospital. In this case the APLS management of anaphylaxis needs to be understood. You would grade the severity of any reaction and give adrenaline (epinephrine) (or EpiPen), chlorphenamine, salbutamol and hydrocortisone or methylprednisolone as appropriate.

• Severe: Symptoms of airway compromise, shock, neurological signs, or severe gastrointestinal upset

• Moderate: Symptoms include respiratory symptoms (breathlessness, wheeze, chest tightness), dizziness, sweating, nausea, vomiting, abdominal pain

• Mild: Manifestations are limited to the skin only (urticaria, erythema, angioedema)

For mild reactions an antihistamine may be all that is required. A clear, written plan and adequate provision of the medication would be essential – in this case an EpiPen and training for all those involved in the care of the child. An explanation of life-threatening signs and the importance of calling 999 should be expressed clearly. A MedicAlert bracelet application form may be offered to the family.

The EpiPen (http://www.epipen.com) is to be administered when a child has signs or symptoms of anaphylaxis. The dose of adrenaline (epinephrine) is given by the auto-injector through the clothes if necessary. You should follow the ‘instructions for use’ on the patient information leaflet.

The auto-injector has a grey activation cap and a black tip (the ‘needle end’). Once the activation cap is removed, the EpiPen is held with a palmar grasp grip. It is then swung and jabbed firmly against the outer thigh perpendicular to the skin (black tip first). Hold the pen firmly in place for a few seconds, then remove and gently massage the injection area for 10 seconds. Check the needle is visible as this ensures the dose has been administered. Dispose of the EpiPen as instructed and immediately attend the nearest emergency department for medical attention.

In terms of follow-up, it is not unreasonable in a role-play to state that you will arrange for the dietician to see the family immediately after your consultation to discuss peanut avoidance and the allergy specialist nurse to answer any questions that are remaining. You can offer the family a contact number for the allergy nurse and give them a repeat appointment for your allergy clinic.

When trying to show how you successfully transferred information to the mother it is useful to ask her to repeat back to you the key facts that she has understood.