Head	Hands	Heart
Flat occiput	Fifth finger	AVSD
Epicanthic folds	Absence of middle phalanx	VSD
Brushfield’s spots in iris	Single crease	PDA
Protruding tongue	Distal axial triradius	Tetralogy of Fallot
Small ears	Broad appearance Hyperextensible	Increased risk of pulmonary vascular disease

COMMON ASSOCIATIONS OF DOWN’S SYNDROME

A Alzheimer’s

T Thyroid problems (hypothyroid)

R Respiratory infections

I Instable atlanto-axial joint

S Small bowel atresia

O Otitis media

M Mental retardation

Y Y chromosome (males) – infertile

C Cataracts

H Hirschsprung’s

I Eye problems (squint and cataract)

L Leukaemia

D Duodenal atresia

REMINDER

There does seem to be a degree of discrepancy in the definition of atrial septal defects (ASDs), ostium primum or secundum defects and atrioventricular defects in different textbooks.

A quick review of the anatomy may be helpful (see Fig. 1).

Figure 1 Diagram of the heart showing the sites of ASD, partial AVSD and complete AVSD

An ASD, a hole between the atria as most medical students learn it, can be referred to as an ostium secundum defect and occur at the site of the fossa ovalis.

Lesions can also be inferior to the site of the ostium secundum and just touch the upper part of the ventricular septum. This is called an ostium primum ASD or may be referred to as an incomplete AVSD. Although the ventricular septum is intact, there are invariably abnormalities of the atrioventricular valves (often a mitral valve cleft).

A complete VSD involves the ventricular septum and allows communication of all four chambers of the heart. This is the commonest lesion in children with Down’s syndrome.

CAN YOU …

List the common presenting features of Down’s syndrome?

Ostium primum partial (AVSD)	Ostium secundum (ASD)
Soft ejection systolic murmur at left second intercostal area	Soft ejection systolic murmur at left second intercostal area
May have murmur at apex secondary to mitral regurgitation
Left axis deviation	Right axis deviation
Partial right bundle branch block	Partial right bundle branch block

COMMENTS ON STATION 2

DIAGNOSIS: GLYCOGEN STORAGE DISORDER

This child has a glycogen storage disorder (GSD) which, if your revision is going very well, you will know is most likely to be von Gierke’s disease (GSD type 1). If you are lucky enough to have seen a child with this condition and are able to recognise ‘doll’s face facies’ then in the real exam this station may be much easier. Many classic facial appearances, the prominent forehead of Alagille’s syndrome, the saddleshaped nose of fetal alcohol syndrome and the triangular appearance of Russell-Silver syndrome will not be readily apparent to you in the exam. The examiner is not going to fail you for missing these features (although it would be difficult to justify missing a Down’s syndrome unless the appearance was very subtle). It is much more important to pick up the hard clinical signs and put them in their correct context rather than be a good syndrome spotter. This child has impressive hepatomegaly without the presence of splenomegaly. The only evidence of chronic liver disease is the bruising, but overt liver failure seems unlikely given the absence of jaundice (and the child’s presence in the exam!). If you had not thought of storage diseases an appropriate response would be:

‘This child shows evidence of poor growth, a tendency to bruise either by platelet or clotting factor deficiency and/or dysfunction and gross hepatomegaly. The absence of splenomegaly reduces the likelihood of a myeloproliferative disorder or red blood cell defect. I need to confirm this is not right heart failure but I see no overt evidence of cardiorespiratory distress. My primary investigations would be based on looking for problems with liver metabolism, function or structure.’

Once you are focused on the liver, hopefully your list of causes of hepatomegaly will jump out at you!

Some key features of the glycogen storage disorders are worth knowing as they are stable patients with good signs, making them popular exam patients. It is worth looking at the size of the patient’s tongue as 58 macroglossia is associated with Pompe’s disease (GSD type 2). Asking the mother if Sarah has a problem with her sugar levels should clinch the diagnosis of GSD.

Hepatomegaly alone	Splenomegaly alone	Hepatosplenomegaly
Glycogen storage disorders	Portal hypertension	Myeloproliferative disorder
Glycogen storage disorders	Red blood cell defect (hereditary spherocytosis,sickle cell anaemia)	Mucopolysaccharidoses
Heart failure		α₁-Antitrypsin deficiency
Galactosaemia
Wilson’s disease	Chronic ITP

The underlying problem for glycogen storage disorders is the inability to break down glycogen into a useful substrate for energy. Although there are over 10 known types it is more useful to divide them into those which affect muscle or those affecting the liver or those affecting both.

CAN YOU …

Name the common causes of macroglossia?

• Congenital hypothyroidism

• Beckwith-Wiedemann syndrome

• Pompe’s GSD

• Mucopolysaccharidoses

Down’s syndrome is not true macroglossia – the tongue protrudes forward in a relatively small mouth

COMMENTS ON STATION 3

DIAGNOSIS: SPINA BIFIDA

This child has spina bifida and must have a lesion below L2 and possibly commencing as low down as L5. This is a difficult case because it requires you to examine and think at the same time. Candidates come unstuck in neurological cases because they are so concerned about getting the examination correct they completely ignore the findings they have obtained. You must be able to perform a neurological exam without having to worry about what to do next. It must just come naturally. In the stress of the exam you will forget to do something or realise you have no idea which muscle was weak. You should not be examined by a paediatric neurologist, although you should make sure you are taught by one.

‘This child has had a surgical repair of a lumbosacral lesion, presumably a meningocele or meningomyelocele. In light of this finding I elected to examine the lower limbs to define the level of the lesion. I will also need to examine the head, looking in particular for any evidence of hydrocephalus, as up to 90% of children with spina bifida may have an Arnold-Chiari malformation. On examination the child was not particularly wasted and the most obvious defect was the absence of hip extension, plantar flexion and ankle reflex. As I noted some spontaneous knee extension the lesion is likely to spare L3 and perhaps L4. I need to examine the anus to complete my lower limb examination.’

There is a degree of difference in textbooks about specific myotomes and reflex roots which can make revision difficult. The suggested levels worked for the author but may differ slightly from other books. The important thing is not to be too precise about the level but be very consistent with your observations and findings.

There are many peripheral issues in spina bifida which must be addressed, and may be part of a communication or history-taking station.

Medical	Functional	Social
Hydrocephalus (presence of shunt, CSF infection)	Mobility (need for wheelchair or callipers)	Education (need for special class or school if intellectual impairment)
Orthopaedics (callipers, contracture release)	Incontinence (use of anticholinergics)	Development
		Adolescent issues
Ulcers (pressure sores)	MDT involvement (Physio/OT)
UTIs (increased risk of reflux)
Scoliosis/kyphosis
Eyes (ambylopia secondary to squint)

REFLEXES

Remember Jendrassik’s manoeuvre. Just before the reflex is elicited the child should be asked to perform an action to produce muscle tension: ‘Screw up your face’, ‘Pull your locked hands away from each other’, ‘Squeeze your fists’, etc. (see Fig. 2).

Figure 2

COMMENTS ON STATION 4

DIAGNOSIS: MARFAN’S SYNDROME

A station with the potential for so many positive clinical findings is an ideal examination case but the candidate must be careful to remember them all when presenting in the heat of the moment. The findings of arachnodactyly, tall height and scoliosis should make you consider whether she has Marfan’s syndrome. Had you examined her oropharynx you would have noted a high-arched palate. The degree of kyphoscoliosis or chest wall deformity may produce problems in respiratory function resulting in a picture of restrictive lung disease.

Marfan’s syndrome should be easily recognisable and could appear in the cardiac, respiratory or ‘other’ stations. We would expect that the child would usually be a teenager.

	Tips
Genetics	Autosomal dominant with variable expression, chromosome 15
Features	Skeletal: arachnodactyly Tall stature Lower segment > upper segment Arm span > height Scoliosis High-arched palate Joint hypermobility Sternberg’s sign (can adduct thumb across palm) CVS: aortic dissection Mitral valve prolapse RS: pneumothorax Eyes: lens dislocation
Management	Regular ECHO and BP measurement. Ocular examination Prognosis affected by cardiac lesion
Differential	Homocysteinuria: thrombosis, learning difficulties, osteoporosis and homocysteine in urine Klinefelter’s syndrome Acromegaly (rare)
	In the following conditions the final adult height is usually normal despite a greater rate of growth as a child: Soto’s syndrome Beckwith-Wiedemann syndrome Hyperthyroidism Precocious puberty
	Familial tall stature is the commonest cause of tall stature, although the examiners much prefer showing children with signs!

CAN YOU …

Describe the differences between Marfan’s syndrome and homocystinuria?

Although phenotypically similar, the most notable differences are the presence of homocystine in the urine and the absence of intellectual difficulty in homocystinuria. Most candidates only remember that there are differences in the direction of lens subluxation. It may be that you are confident in remembering the difference, but some authorities are not convinced about this method of differentiating the conditions. The dislocation would also have to be quite marked in order to correctly document the direction.

• Marfan’s: up and out

• Homocystinuria: down and cystINuria

COMMENTS ON STATION 5

DIAGNOSIS: THYROID SWELLING

There is a classic medical school urban myth where a student in his final-year exam becomes very flustered when asked to examine the thyroid gland of a young child. Having sweated, pontificated and prodded hopelessly at the front of the child’s neck the examiner comments that there is a glass of water on the side table if that would be helpful. The student, grateful for the examiner’s intervention, drinks the glass of water himself.

Have you examined a thyroid gland or assessed thyroid status as part of your revision? It is very easily overlooked as thyroid presentations are uncommon on acute takes, generally being managed in outpatient clinics. However, patients are easily available, generally well and have hard clinical signs.

Thyroid stations involve examination of the gland itself and assessment of the thyroid status. There are then a number of ‘classic’ questions which you will be expected to ask the parents and/or child.

THYROID EYE DISEASE

Although not universally present, there are simple techniques to look for the classic features of hyperthyroid eye disease:

• Exophthalmos: An abnormal protrusion of the eyeball. Some texts interchange the term for proptosis, others preferring to use exophthalmos for an endocrinologically caused protrusion. Looking from above the child’s head for a forward eye bulge is not a terribly objective exam but it is obvious to the examiner what you are trying to do.

• Lid retraction: The sclera above the iris is visible at rest. If not present, test for lid lag.

• Lid lag: Ask the child to follow a horizontally placed finger up and down. If you are able to see the sclera above the iris on downward gaze this sign is positive.

• External ophthalmoplegia: Uncommonly the lateral or superior rectus muscles may be affected.

Examination

General appearance	Must ask for weight and height Asking for height velocity shows insight into condition Pendred’s syndrome is a goitre (not necessarily hypothyroidism) and hearing loss. Look for hearing aid A horizontal necklace scar indicates a thyroidectomy (so check voice for hoarseness) Ask about pubertal staging
Inspection	Ask the child to take a drink – the gland should rise on swallowing Ask the child to stick his/her tongue out – a thyroglossal cyst will rise with this procedure
Palpation	Palpate from behind the child (and again while they drink) As with all lumps: Shape Size Softness Surface (one or multiple lumps)
Other gland examination	Local lymphadenopathy Percuss sternum and palpate suprasternal notch for retrosternal extension Auscultate the murmur for a bruit
Thyroid status (head to toe)	Hypothyroid	Hyperthyroid
	Swollen eyes with eyebrow loss	Classic eye signs
	Swollen eyes with eyebrow loss	May have goitre bruit
	Thin, dry hair and skin	Tachycardic
	Bradycardic	Warm, sweaty hands
	Cool peripheries	Proximal muscle weakness
	Hyporeflexic	Wide pulse pressure

History

Hypothyroid	Hyperthyroid
Do teachers describe your child as an attentive pupil?	Does you child have problems sleeping?
Has school performance deteriorated after treatment?	Has you child ever complained of palpitations?
Has you child had any problems with constipation?	Has your child become emotionally labile?
Does your child feel the cold more than their siblings?	How is your child performing at school?
Has you child started to gain weight recently? Has your child had any difficulty walking? (slipped upper femoral epiphysis)	How is your child performing at school?

Hypothyroid child

• Autoimmune (increased incidence in girls)

• Family history may be present

• Associated with diabetes mellitus

• T4 low and TSH high at diagnosis

• Treat with T4

• Must monitor levels of T4 and TSH

Hyperthyroid child:

REMINDER

Other anterior neck swellings

Midline	Lateral
Thyroglossal cyst	Lymphadenopathy (primary or secondary)
Epidermoid cyst	Cystic hygroma
	Branchial cyst
	Sternomastoid ‘tumour’ (neonatal)

COMMENTS ON STATION 6

DIAGNOSIS: EX 27-WEEK NEONATAL GRADUATE

By the time you have introduced yourself to the examiner, said hello to mum and overcome the nausea you may be feeling, a good minute will have passed. The examiner is certainly going to want to ask you questions, especially if things are going badly, so you may only have 5 minutes to actually examine the patient. Unless you are very lucky your developmental examination is unlikely to be systematic and you can certainly not predict how long it will take you to examine each of the different categories. You must therefore accept that by the time you come to present your findings to the examiner you may not have all the information you would wish.

It has been emphasised that knowledge of your milestones is paramount and your recall must be a reflex. You must see each particular movement, 66 noise or skill a child makes as an age. This is very easy to practise. Walk around any supermarket on a weekend afternoon and guess the ages of children. I do not recommend asking the parents how old their child actually is as someone might call the police! You will quickly realise what knowledge you have to hand and what you can’t remember.

This child has a developmental age of at least 6 months:

and shows some features of a 9-month-old:

Looks for fallen object

Rolls back to front

but not others:

Pulls to stand

Developing pincer grip

and is obviously not the developmental equivalent of a 1-year-old child.

There are many potential reasons for this but note the delay is spread across all four developmental fields. Realising that the child is small, plagiocephalic and has neonatal scars makes prematurity the most likely cause.

The causes of developmental delay are numerous but can be categorised in order to provide a framework for an answer:

Cause of developmental delay	Examples
Congenital/syndromic	Down’s syndrome
Central neurological	Isolated motor delays (e.g. the bottom shuffler)
Idiopathic mental retardation	Isolated motor delays (e.g. the bottom shuffler)
Peripheral neurological	Muscular dystrophy, spinal muscular atrophy
Familial	Muscular dystrophy, spinal muscular atrophy
Environmental/social	Parental neglect Malnourished

The approach to the assessment of developmentally delayed children is a lengthy process (much like failure to thrive) and again requires a similar framework. It is important to try not to learn a list of investigations but realise there are different areas which may be assessed. Yes, it may be worth looking for azurophilic dispersed hypergranulation of polymorphonuclear cells (neuronal ceroid lipofuscinosis) but not if you haven’t taken a pregnancy history first.

It is vital in the history to have a good documentation of the timeline of growth and development. A good history that skills have been lost raises the possibility that the child has a neurodegenerative or metabolic condition, whereas the failure to obtain skills may represent a primary neurological condition.

ASSESSMENT OF DEVELOPMENTAL DELAY

• Gestational age at birth

• Perinatal complications

• Developmental milestones

• Specific abnormalities:

• Previously affected children

• Medical/psychiatric history of parents

• Consanguinity

Social:

• Education (of parents and child)

• Who lives at home?

• Social service involvement

• Who is the main carer?

Medical:

• Is a paediatrician involved?

• Is a health visitor involved?

• Any known medical problems?

The above digresses from the clinical remit of the developmental station but you may well be asked how you would investigate developmental delay. Your assessment should be concluded by a thorough physical exam (including evidence of dysmorphology) – and remember to measure growth parameters!

Investigations should be tailored to the history and not a blind repetition of all the blood tests you know.

COMMENTS ON STATION 7

The best response to this station is the ability to combine appropriate medical information with a demonstration that you are able to break bad news sensitively and honestly. At least one of the communication stations will involve breaking bad news in some form and you should be skilled at this.

These tips for ‘breaking bad news’ should be very familiar to you:

Setting

• Set aside time

• Quiet setting

• Side room; hand bleep over to a colleague to avoid disturbance

• Have an accompanying nurse and relative present

– If not, offer to meet them at a later stageIntroduce yourself fully.

Communication

• Establish what the patient knows

• Give information clearly and simply

• Use active listening – pauses, ‘Umm’, ‘yes’, etc.

• Invite and answer questions

• Review family’s support network

• Give appropriate hope.

Conclusion

• Summarise

• Arrange further meeting

• Offer to meet family members.

You can show the examiner that you know how to set the scene for such an interview by using stock sentences such as:

‘I have given my bleep to my colleague so that we will not be disturbed.’

‘If your husband would like to talk to me about this, I will be happy to meet with him to explain.’

When thinking about how you will discuss a diagnosis such as cystic fibrosis with a family in the exam, it is recommended to read information leaflets from associated organisations – they are excellent for tips on how to describe illness in ‘layman’s’ terms and for answering common questions.

Before you enter the consultation, consider which aspects of the disease you wish to cover. Keep things relatively simple and remember that the parents will only retain small amounts of the information given. They will also have prepared questions to ask in the exam!

For this consultation we would include:

• Result of Guthrie

• Description of CF

• Further investigations needed to make diagnosis

• Initial management if confirmed to have CF.

A possible consultation may go in the following way:

‘We have received the results of Hayley’s Guthrie heel-prick test. This test screens babies for a variety of illnesses that we can identify early on so that we can begin treatment. The test suggests that Hayley may have cystic fibrosis. [Pause] Do you know anything about CF? …

‘CF is an inherited disease which mainly affects the lungs and digestive system. There is a fault in mucus production and the mucus in CF patients is thick and prone to infection. Not all children are affected to the same extent.

‘We need to do some further tests to confirm whether Hayley has CF. We would like to take some blood for genetic testing and a “sweat test” to see how salty Hayley’s sweat is.

‘If these tests confirm that Hayley has CF she will need to be referred to the nearest hospital which manages CF. We will be able to monitor her growth and to try and prevent infections with antibiotics and physiotherapy.’

This is a huge diagnosis to give and you potentially may spend more time answering questions than covering all the above points. The above answer doesn’t even touch on potential parental concerns of genetics and the ‘it’s all my fault’ response.

TESTS ON GUTHRIE CARD (POTENTIALLY – NOT ALL CENTRES OFFER ALL TESTS)

• Hypothyroidism

• PKU

• Cystic fibrosis

• Sickle cell disease/thalassaemia

• Very-long-chain fatty acid (VLCFA) and medium-chain fatty acid (MCFA) defects

COMMENTS ON STATION 8

The best scenario you can hope for will be about a topic that you encounter in everyday practice and feel confident discussing. The above situation may have occurred in your unit (although in real practice this child would be more effectively managed in transitional care). The examiners are looking for your ability to communicate effectively, empathically and to listen constructively regardless of the situation you are placed in. Perhaps, in this situation, you may get more time in the exam to prepare yourself than you would do in your place of work! The minutes before you go into the room are therefore vital in outlining the structure of the conversation in your head.

When a candidate read this type of question in the exam, they thought the mother had been informed about the bed shortage and need for discharge on that day and had planned a conversation about feeding, family care follow-up, immunisations, etc. It quickly became clear that the news needed breaking first – and a quick recovery was needed!

Here is a possible outline for this conversation:

• Introduce yourself and confirm the name of parent.

• Ask if they wish to have a friend/relative present.

• Try to make the suggestion that you have a nurse with you in the room (they will be imaginary).

• Say that you will not be interrupted during the consultation.

• Offer the opportunity for them to ask questions at any time.

• Recap briefly on James’s progress to date on the unit and reiterate how well he is now doing with feeding and growing.

• Ask what his mother understands about the discharge arrangements.

• Introduce the idea of discharge a day early and why this has become necessary.

• Review the mother’s concerns around discharge and home support network.

• Decide whether discharge that day is possible.

• Review general follow-up, immunisations and sources of help.

• Agree a plan.

• Summarise.

• Give opportunity for questions.

In the role-player’s information, the mother was not prepared for discharge that day as her husband was away on business. It may therefore be decided that she would room-in that night on the unit and be discharged the following day. She will have had many questions about follow-up and James’s future health.

COMMENTS ON STATION 9

This station re-emphasises the importance of seeing new referrals in general paediatric outpatient clinics. You must have a scheme for taking a thorough history without missing important points specific to seizures.

When taking a history of a first fit you must include:

The scenario from the letter is very open-ended: a number of different types of fit are possible (see table).

The history will be more important than the diagnosis. The examiner will be looking for you to have asked all the appropriate questions without being sidetracked by the response of the child or parent. In particular, you should not put words into the patient’s mouth or assume a family’s understanding of the meaning of medical terminology. For example:

‘So the twitching movement started in your child’s face and then spread to their arms and legs?’ is obviously suggestive compared to ‘What happened after the facial twitching?’

‘Was your child incontinent?’, ‘Was your child cyanotic?’, ‘… and your child was unconscious?’ assumes a good command of English (note the background of the patients in the scenario). I have seen doctors ask about ‘cyanosis’ when questioning parents. It is not intentional but very easy to do when under pressure. If the answers are simply nodded replies then you may find yourself assuming things that never happened.

When questioned about her management of her daughter’s seizure it becomes apparent that cold water is splashed on her until she stops. Because the seizures always stop her mother has assumed that this is the correct treatment!

Seizure	Features
Simple partial	Any part of body May spread to become generalised Often secondary to structural defect Focal spikes or slow wave in affected area
Benign partial (Rolandic) EEG: centrotemporal spikes	Partial, which may progress to generalised Often commences in face and tongue (parents hear gargling noise from bedroom) Often nocturnal or early morning Remits in adolescence
Myoclonic – akinetic	Violent contractions of muscle groups. May throw patients to the side Minimal or no loss of consciousness Usually evidence/history of brain neurone damage Lennox-Gastaut if associated with mental retardation
Juvenile myoclonic EEG: 4–7 Hz spike wave activity	Early-morning myoclonic jerks (typically of head and neck) Associated with generalised tonic-clonic seizures
Absence EEG: three-per-second spike wave activity	Vacant episodes up to 10 seconds ‘Automatisms’ of face No aura or post-ictal confusion
Generalised tonic-clonic EEG: bilaterally synchronous multiple high-voltage spikes	Loss of consciousness Often preceded by aura or cry May have bladder incontinence or tongue biting
Temporal lobe	Clinical features similar to absence seizures (staring, odd facial expressions and fidgeting hand movements) However, may have aura, last longer (30–60 seconds) and autonomic disturbance