Circuit G

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Circuit G

STATION 1

This station assesses your ability to elicit clinical signs:

• CVS

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

On entering the room you are presented with a small infant. The examiner says, ‘Please examine the cardiovascular system of this 3-week-old baby girl and present your findings’.

CLINICAL SCENARIO

On general inspection you note that the baby is not dysmorphic and is pink and well perfused. There is an obvious left-sided scar. The child is not attached to any monitoring and has no clinical signs of respiratory distress, clubbing or cyanosis. Interestingly, the left hand appears cooler than the right and when you come to examine the brachial pulses the left appears weaker. The heart rate is 140 beats per minute. There is no hepatomegaly and the femoral pulses are palpable with no radiofemoral delay.

The left-sided scar runs from just below the nipple backwards and inferiorly to beneath and behind the armpit. There is also a 1 cm scar just inferior to its lower border. On auscultation a long systolic murmur, without a thrill, is heard throughout the precordium, radiating to the back. The first and second heart sounds are normal, as are the breath sounds.

What defect does the cardiovascular findings suggest and what bedside test would be important to request?

As you present your findings you notice she has fat and puffy feet. Is this of significance and what other findings may be present on the examination?

STATION 2

This station assesses your ability to elicit clinical signs:

• Abdo/Other

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

On entering the room you are asked to examine the abdominal system of a 10-year-old boy.

CLINICAL SCENARIO

On initial inspection you note a pale boy who has a rounded face and patchy loss of hair to his scalp. His conjunctivae are pale but there is no evidence of scleral jaundice. His mouth is normal with no ulcers. On asking him to remove his T-shirt you notice that he has a pouch hanging around his neck into which is placed the end of a dual-lumen catheter (one red, one white) tunnelled to the right upper chest. There are a few petechiae across his chest. Respiratory and pulse rate are within the normal range for age.

What differentials will you have in mind at this point? What else will you specifically examine in addition to the abdomen?

His abdomen is mildly distended without scars or venous abnormality but he does have obvious striae. His liver edge is palpable three finger-breadths below the costal margin and the spleen palpable four finger-breadths below the costal margin. The rest of the examination is normal.

How will you present these findings to the examiner?

What bedside information would you request from the examiner?

STATION 3

This station assesses your ability to elicit clinical signs:

• Neurological

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

A well Afro-Caribbean girl is seated cooperatively on a chair. You are told, ‘Please examine the eyes of this 6-year-old girl, who presented with morning vomiting’.

CLINICAL SCENARIO

On general inspection she is not dysmorphic. You examine in the following order:

• Acuity: Testing each eye individually (Snellen chart) – no defect.

• Visual fields: Testing each eye individually – no defect.

• Eye movements: You note that there is reduced lateral movement of the left eye. All other movements of both eyes are normal. The girl complains of diplopia on left lateral gaze. There is no nystagmus.

• Squint: You find that there is no tropia or phoria present.

• Pupils: The pupils are equal and reactive to light and accommodation.

• Fundoscopy: You find bilateral mild papilloedema (blurred disc margins and venous congestion) with no haemorrhage or exudates.

• Eyelids: No ptosis present.

What nerve(s) are involved to give this pattern of external ophthalmoplegia?

What is the most likely cause of the vomiting?

What are the causes of the above condition in children?

What would be your first-line investigations?

STATION 4

This station assesses your ability to elicit clinical signs:

• Respiratory/Other

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

The examiner tells you that this 7-year-old child has presented to his GP many times with a nocturnal cough. Could you examine his respiratory system to find out why?

CLINICAL SCENARIO

The child appears well grown and is breathing comfortably at rest. You ask him to remove his T-shirt and sit up on the couch. On general inspection you note that he has mild respiratory distress (intercostal recession) with a respiratory rate of 35 per minute. He appears to have prominent chest musculature and Harrison’s sulci bilaterally. He has no peripheral stigmata of respiratory disease, has a pulse rate of 90 beats per minute and is not centrally or peripherally cyanosed.

There is no palpable lymphadenopathy in the cervical or axillary regions. The chest has no scars. There is an apparent increased anteroposterior diameter when assessed from the side. You examine the front completely, followed by the back. There is bilateral equal expansion and resonant percussion note. There is a mild diffuse expiratory wheeze throughout the chest. There is no palpable liver edge.

What is the most likely diagnosis?

What part of the respiratory system examination should you offer to examine next?

What additional bedside tests are important in this child?

STATION 5

This station assesses your ability to elicit clinical signs:

• Other

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

On entering the room you are invited to comment on the appearance of Crystal, a 6-year-old girl.

CLINICAL SCENARIO

Crystal is lying on the couch accompanied by her mother (who is wearing glasses and has multiple ‘skin tags’ apparent on her face). On general inspection Crystal has no striking abnormalities. You ask her to remove her vest and sit up for you. At this point you notice a number of brown pigmented patches with smooth outlines of variable size over her abdomen and chest.

You begin formal examination at the hands, moving up the arms to the axillae, which appear freckled. The face is not affected and there are no mucosal lesions in the mouth. The anterior and posterior aspects of the chest have multiple (> 5) pigmented patches present, with the largest measuring 10 x 15 cm approximately.

What is your current working diagnosis?

You present your findings so far to the examiner and explain that you wish to examine the child for associated features.

What systems will you now examine and how will you structure your examination?

STATION 6

This station assesses your ability to assess specifically requested areas in a child with a developmental problem:

• Development

This is a 9-minute station of clinical interaction. You will have up to 4 minutes beforehand to prepare yourself. No additional information will be given or is necessary before commencing the station. When the bell sounds you will be invited into the examination room.

INTRODUCTION

On entering the room, the examiner asks you to assess the motor development of an infant the Child Development Centre have been following up.

CLINICAL SCENARIO

The infant is accompanied by her mother. On initial general inspection you find her to be looking around lying on her back. She is moving all four limbs, is able to reach out for bright toys, pass objects from hand to hand and to place them in her mouth. She turns to her mother’s voice but makes little noise and no words herself.

You ask the mother if you may examine her more closely. With permission you then formally test the motor development (gross and fine motor).

On pulling to sit there is reduced truncal tone and mildly reduced head control. She is unable to sit unsupported. When held vertically, she will put weight on both legs and bounce weakly. She will not support herself or hold on to the cot side for support. In ventral suspension you again note impaired head control (to 45°) and truncal hypotonia. On lying her down on her front the infant will push on her hands a limited amount. You move on to test the Moro reflex, which has been lost.

You test fine motor control initially with a single bright red brick, which she takes in a full palmar grasp and transfers from hand to hand. A second brick is introduced, which she takes in her other hand and then bangs the bricks together. She is not able to scribble with a crayon, build blocks into a tower of three or put pieces into a simple jigsaw.

What is the developmental age of this child in the area of gross motor development?

What is the developmental age of this child in the area of fine motor development?

What additional developmental reflexes could you describe or test in this child?

STATION 7

This station assesses your ability to communicate appropriate, factually correct information in an effective way within the emotional context of the clinical setting:

• Communication One

This is a 9-minute station consisting of spoken interaction. You will have up to 2 minutes before the start of the station to read this sheet and prepare yourself. You may make notes on the paper provided.

When the bell sounds you will be invited into the examination room. Please take this instruction sheet with you. The examiner will not ask questions during the 9 minutes but will warn you when you have approximately 2 minutes left.

You are not required to examine a patient.

The encounter should be focused on the task; you will be penalised for asking irrelevant questions or providing superfluous information. You will be marked on your ability to communicate, not the speed with which you convey information. You may not have time to complete the communication.

SETTING

You are the SpR at a district general hospital working in the outpatient clinic.

SCENARIO

Dean (12 years old) has been brought for review in clinic following a recent admission. Your task is to discuss with Dean and his mother the need for a regular inhaled steroid for control of his asthma. You should also confirm the family’s understanding of the management plan for an acute exacerbation.

BACKGROUND

Dean was recently admitted for 5 days to the children’s ward with a severe acute exacerbation of his asthma. Over the preceding 12 hours he had been using his salbutamol inhaler every 20 minutes at home with no improvement. In the emergency department he had required oxygen, salbutamol and ipratropium nebulisers, i.v. salbutamol and i.v. hydrocortisone in order to see improvement.

He had been discharged home with a short course of oral prednisolone and, as required, inhaled salbutamol by spacer. His mother had refused to start him on inhaled steroid at discharge but was happy to come to an outpatient appointment to discuss the options.

Dean was a normal term delivery and has a normal developmental history. He has no other medical problems and takes no other medication. He lives with his mother (a heavy smoker) and sister, both of whom suffer with eczema. He has a significant persistent night-time cough and daytime wheeze with exercise.

Do not take any further history.

You will not be asked any questions by the examiner, but you must be prepared to answer any questions from the patient or his mother. You may not discuss all the possible information in the time appointed but will be expected to cover individual areas in sufficient detail.

STATION 8

This station assesses your ability to communicate appropriate, factually correct information in an effective way within the emotional context of the clinical setting:

• Communication Two

This is a 9-minute station consisting of spoken interaction. You will have up to 2 minutes before the start of the station to read this sheet and prepare yourself. You may make notes on the paper provided.

When the bell sounds you will be invited into the examination room. Please take this instruction sheet with you. The examiner will not ask questions during the 9 minutes but will warn you when you have approximately 2 minutes left.

You are not required to examine a patient.

The encounter should be focused on the task; you will be penalised for asking irrelevant questions or providing superfluous information. You will be marked on your ability to communicate, not the speed with which you convey information. You may not have time to complete the communication.

SETTING

You are the SpR in a district general hospital working in a special care baby unit.

SCENARIO

You are presented with Donna, a 21-year-old in her first pregnancy, now at 24 weeks’ gestation. She was admitted through the emergency department with lower abdominal cramps and vaginal fluid loss. She has been assessed by the obstetrician and given steroid as he feels she is at risk of pre-term delivery.

You have been asked to discuss with Donna and her partner Jamie the resuscitation and stabilisation of the baby if it is born at 24 weeks.

BACKGROUND INFORMATION

Donna was previously fit and well with no past medical problems. She is taking no regular medication and has no allergies. She had normal booking bloods including the triple test and normal booking and anomaly ultrasound scans.

You should not take any further medical history.

STATION 9

This station assesses your ability to take a focused history and explain to the parent your diagnosis or differential management plan:

• History-taking and Management planning

This is a 22-minute station of spoken interaction. You will have up to 4 minutes beforehand to prepare yourself. The scenario is below. Be aware that you should focus on the task given. You will be penalised for asking irrelevant questions or providing superfluous information. When the bell sounds you will be invited into the examination room. You will have 13 minutes with the patient (with a warning when you have 4 minutes left). You will then have a short period to reflect on the case while the patient leaves the room. You will then have 9 minutes with the examiner.

INFORMATION

You are the SpR in a paediatric outpatient clinic at a district general hospital. You have received the following referral letter from a GP:

Dear Doctor

Re: James X

I would be grateful if you could see this 5-year-old boy in your outpatient clinic with regard to his episodes of loss of consciousness. He has developed these episodes over the preceding 4 months and has been seen in the local emergency department on one occasion following an occurrence at school. A 12-lead ECG, BP, FBC, glucose and U&Es at this time were normal.

He was born by NVD at term and has shown normal development to date. He has no other past medical history and takes no medication. He has one elder sister (8 years), who was diagnosed with febrile convulsions at age 3 years and has had no further problems.

He has recently moved to a new school and his parents feel he has settled in well.

I wonder if he may have a seizure disorder or cardiac dysrhythmia.

You are to take a targeted history from James (5 years) and his parents (John and Mary) with regard to these episodes of ‘loss of consciousness’ and formulate a management plan. You are not expected to examine the child.

COMMENTS ON STATION 1

DIAGNOSIS: REPAIR OF AORTIC COARCTATION; TURNER’S SYNDROME

A thorough knowledge of cardiovascular defects, their management and their sequelae is vital for the exam. It is important that you know what the common scars look like – reading about a lateral thoracotomy scar is not the same as having seen one. In this case the small secondary scar is probably from a chest drain.

It is important to let the examiner know that you would measure a four- limb BP in addition to plotting the length, weight and head circumference on the appropriate chart. An ECG, CXR and echocardiogram are essential firstline investigations of a significant murmur with no innocent features.

This child has had a repair of aortic coarctation; the pedal oedema is important as it suggests an underlying diagnosis of Turner’s syndrome. It is not a feature of cardiac failure in this circumstance. Karyotyping of a blood sample will be diagnostic in the majority of cases.

The clinical features of Turner’s syndrome (congenital lymphoedema, short stature and gonadal dysgenesis) can be divided into neonatal, childhood and adolescent findings. You should become familiar with Turner’s syndrome as the children are generally well but require prolonged follow-up. Extensive detail is provided here as this same child could be used for the communication skills stations – ‘Explain to this child’s parents what a diagnosis of Turner’s syndrome means?’ – or as a history-taking/ management-planning scenario.

Age Clinical findings
Neonatal Dorsal oedema of hands and feet
  Redundant nuchal skin folds (secondary to in utero cystic hygromas)
  Low birth weight and reduced length
  17-45% cardiac lesion (bicuspid aortic valve, coarctation of aorta, aortic stenosis, hypoplastic left heart)
  Developmental dysplasia of the hip (DDH) more common
Childhood Short stature (proportional)
  10% developmental delay
  Facial abnormalities (epicanthic folds, small mandible, prominent ears, high palate)
  Webbed neck
  Low posterior hairline
  Prominent ‘shield’ chest
  Widely spaced nipples
  Cubitum valgum
  Hyperconvex fingernails
  Grommits for ‘glue ear’ common
Teenage Failed onset of pubertal development (10% have breast enlargement)
  Progressively more prominent pigmented naevi
  30% renal abnormalities
  70% impairment of non-verbal perceptual motor and visuospatial skills
  15-30% hypothyroid
  Scoliosis, lordosis and kyphosis more common

GENETIC ABNORMALITY

Turner’s syndrome occurs in 1 in 2500 to 1 in 3000 female live births. The most frequent genetic abnormality is monosomy X (45,X; 50%). The remainder of cases may have a duplication of the long arm of one X (46,X,i(Xq)) or a mosaicism (e.g., 45,X/46,XX). One to two percent of all conceptuses have 45,XO karyotype but over 99% will spontaneously abort.

MANAGEMENT ISSUES

At the time of diagnosis with Turner’s syndrome it is important to have baseline investigations: cardiac echocardiogram, thyroid function tests, hearing test, renal ultrasound scan, ovarian function tests, growth assessment and a psychosocial assessment.

Aortic dissection is a significant concern in patients with structural cardiac abnormalities, hypertension or a combination of the two. Hypertension should be treated aggressively. Bacterial endocarditis prophylaxis may be required. Bear this in mind as dental malocclusion is common and may be treated prophylactically. Cardiac disorders in Turner’s syndrome are the reason for the increase in mortality in this condition. A nice touch in any discussion with parents is to acknowledge the increased risk of keloid scar formation – important if you are to have a large scar on your chest!

Recombinant human growth hormone (GH) supplementation is offered despite the patients not having a GH deficiency. The supplementation is thought to improve final height. Therapy should be initiated when height is below the fifth centile for age-matched normal females (may be before 2 years of age). Oxandrolone (anabolic steroid) in low dose will also increase final adult height and may be used in conjunction with GH.

Thyroid function should be assessed initially and from the age of 10 years.

Oestrogen therapy from 12–13 years will help the development of secondary sexual characteristics but will not affect final height. In fact, as oestrogen therapy encourages epiphyseal plate closure it may inhibit full height potential.

There is also an increased risk of Crohn’s disease (Crohn’s is linked to the X chromosome).

CAN YOU …

Explain to parents that their infant child has been given a diagnosis of Turner’s syndrome? What will this mean for their child in the short and long term?

COMMENTS ON STATION 2

DIAGNOSIS: LEUKAEMIA

In this station you have been presented with a Cushingoid 10-year-old with signs of anaemia, petechiae, alopecia and a central venous line.

The most likely reasons for a child having a central venous line are shown in the table below.

Patient Notes
Oncological Needs chemotherapy
Haematological Haemophilia requiring regular Factor VIII injections
Gastrointestinal Total parenteral nutrition, e.g. short gut syndrome (secondary to Crohn’s disease or neonatal enterocolitis)
Renal Red and blue ends for afferent and efferent lumens for haemodialysis
Immune deficient Regular antibiotics or immunoglobulin replacement

In this case there is a suggestion of bone marrow failure and enlarged liver and spleen, making the most likely underlying diagnosis malignancy (in particular, leukaemia). The Cushingoid appearances are secondary to the high-dose steroid chemotherapy.

In addition to following the instruction to examine the abdominal system it is important that you demonstrate any lymphoreticular abnormality, so check the cervical, axillary and groin nodes (with permission) for lympha-denopathy. It is also important to decide whether the child is in cardiac failure secondary to the anaemia. You may also see scars on the iliac crests from bone marrow aspirates or at the site of previous lumbar punctures.

Presentation of these findings should be done succinctly; for example:

‘This 10-year-old boy has Cushingoid features, alopecia, pallor, petechiae and a central venous catheter in situ. He has no cardiorespiratory compromise. The abdomen is distended and he has hepatosplenomegaly. The liver is palpable three finger-breadths and his spleen is palpable four finger-breadths below the costal margins. There is no evidence of other masses or free abdominal fluid. These findings are consistent with a haematological malignancy such as leukaemia and the consequences of its treatment.

I would like to measure the blood pressure, examine his external genitalia, plot his height and weight on the relevant growth chart and dipstick the urine. My first-line investigations would include a full blood count, blood film and clotting analysis.’

Note that the term ‘finger-breadths’ was used rather than an estimated span in centimetres; it will save you having to bring out a tape measure when the examiner challenges you! Paediatric oncology is an important subspecialty to which the candidate may not have been exposed; however, it is vital prior to the examination to have sought clinical experience in this area. In the communication skills station you could be required to ‘break the bad news’ to the parents of a child with newly diagnosed acute lymphoblastic leukaemia, while in the history-taking/management planning scenario you may have to discuss with patients and their families the common problems affecting their chronic care. You must be able to explain the side effects of long-term steroid use; the following mnemonic may help:

Abdominal striae and acne

Buffalo hump

Cataracts

Disability: myopathy and muscle wasting

(o)Edema and osteopenia

Facial changes (moon face)

Growth retardation and glycaemic control

Hypertension and hirsutism

Injury: easy bruising

COMMENTS ON STATION 3

DIAGNOSIS: BENIGN INTRACRANIAL HYPERTENSION

• What nerve(s) are involved to give this pattern of external ophthalmoplegia?

– The left sixth cranial nerve (abducens) is responsible for moving the gaze laterally and is a common isolated cranial nerve palsy.

• What is the most likely cause of the vomiting?

– Raised intracranial pressure is the most important and likely differential diagnosis.

• What are the causes of the above condition in children?

– Raised intracranial pressure has a number of causes. The table below includes the most common.

In this case the child had benign intracranial hypertension (BIH), which may be referred to as a pseudotumour cerebri.

BIH is a condition of idiopathic raised intracranial pressure and, importantly, may lead to papilloedema, progressive optic atrophy and blindness. Its pathogenesis is unclear, but may be due to an increased resistance to the flow of CSF at the arachnoid granulations, thereby reducing the rate of CSF reabsorption. The presenting symptoms may include headaches, tinnitus, diplopia (with sixth nerve palsy) and other visual defects, particularly a ‘nasal step’ field defect.

The most common risk factors for BIH are endocrine and include female sex, reproductive age group, obesity, hypothalamic-pituitary- adrenal axis disruption, thyroid and parathyroid disorders. The use of certain drugs may be associated with an increased risk of BIH, e.g. corticosteroids, retinoic acid preparations, levothyroxine and tetracycline.

Category Cause
Intracranial haemorrhage Traumatic brain injury
• Extradural haematoma Expanding arteriovenous malformation
• Subdural haematoma Ruptured cerebral artery aneurysm
• Subarachnoid haemorrhage  
• Intracerebral haemorrhage  
Infections Mastoiditis
  Meningitis
  Encephalitis
Vascular Ischaemic infarcts
  Vasculitis
Neoplastic Intracranial tumour (primary or metastatic)
Haematology Sickling syndromes
  Polycythaemia
  Prothrombotic states
Other Hydrocephalus
  Benign intracranial hypertension
  Idiopathic

What would be your first-line investigations?

• Bedside tests: blood pressure and urine dipstick analysis.

• Cranial imaging: preferably MRI or CT with contrast to exclude a mass lesion (essential prior to lumbar puncture).

• Formal ophthalmology opinion and visual field testing.

• Lumbar puncture with measurement of opening pressures.

• CSF sent for microscopy, culture, sensitivity, viral studies, glucose and protein.

• Full blood count, sickle cell screen, urea, electrolytes, calcium, coagulation screen and thrombophilia screen.

COMMENTS ON STATION 4

DIAGNOSIS: ASTHMA

If you have helped out in organising a clinical exam you will know that the biggest headache for the senior examiner is making sure all the patients turn up. In most centres one child will have to be replaced at short notice and a well asthmatic on the inpatient ward is the easiest replacement. Common things are common and even the most competent candidate can fall at what should be an easy hurdle. They may have a thorough knowledge of the genetics of Kartagener’s syndrome but no appreciation of the latest British Thoracic Society guidelines for asthma!

The differential diagnoses for a child with wheeze (expiratory noise) can be divided as shown in the table below.

System Conditions
Respiratory: extrathoracic These cause stridor (inspiratory noise) as the predominant symptom Adenotonsillar hypertrophy Peritonsillar abscess Retropharyngeal abscess Epiglottitis
Vocal cord dysfunction
Respiratory: intrathoracic Tracheal stenosis or web Bacterial tracheitis Tracheo-bronchomalacia Tracheo-oesophageal fistula (H type or repair) Bronchiolitis (in the infant) Vascular ring
Respiratory: functional Asthma Cystic fibrosis Recurrent aspiration
Bronchopulmonary dysplasia (in the ex-pre-term infant)
Bronchiectasis (including primary ciliary dyskinesia)
Cardiovascular Cardiac failure (pulmonary oedema) Cardiomegaly
Gastrointestinal Gastro-oesophageal reflux
Lymphoreticular Mediastinal mass/lymphadenopathy Immunodeficiency

What part of the respiratory system examination should you offer to examine next?

It is important to remember to offer to examine the ears, nose and throat in all respiratory cases. You may find nasal polyps, grommets, hearing aids, cleft palate repair or other abnormalities which may assist with the narrowing of your differential. It is also important to remember to palpate for lymphadenopathy.

What additional bedside tests are important in this child?

In asthma and other reactive airways disease it is important to check the child’s peak expiratory flow (PEF) or formal spirometry. If there is a PEF meter to hand you may be asked to direct the child yourself, so be sure to be aware of the proper technique. Your hospital should have a children’s respiratory nurse. Thirty minutes spent with her will be 30 minutes well spent if you are asked to do this! A knowledge of the variety of asthma devices (inhaler type, spacers, PEF meters) is expected and may be required in almost any of the stations in the exam. Remember that the predicted PEF is proportional to the child’s height (approximate PEFR = (height in cm x 5) – 400).

In addition to the PEF you should ask to see the child’s sputum specimen pot (for the thick sticky green secretions seen in cystic fibrosis or bronchiectasis), measure a blood pressure and plot the child’s height and weight on the appropriate chart.

REMINDER

• Harrison’s sulcus: an indentation, of varying severity, in the lower chest caused by chronic airways obstruction

• Kartagener’s syndrome: the presence of dextrocardia, sinusitis and bronchiectasis with a diagnosis of primary ciliary dyskinesia

COMMENTS ON STATION S

DIAGNOSIS: NEUROFIBROMATOSIS TYPE 1 (NF1)

Unless you are a lists person try not to compartmentalise your knowledge too much. You will find in the exam that you need to have the ability to think laterally and out of the boxes. However, certain conditions such as Down’s, Turner’s and the neurocutaneous syndromes lend themselves well to the list approach. Make sure you know the list, not think you know!

Diagnostic criteria for NF1 include the presence of at least two of the following:

1. Café au lait spots:

• 6 over 5 mm if pre-pubertal
• 6 over 15 mm if pubertal

2. Axillary or inguinal freckling

3. Lisch nodules (iris hamartomas) (> 2)

4. Neurofibromas (> 2) or one plexiform neurofibroma

5. Distinctive osseous lesion (kyphoscoliosis, sphenoid wing dysplasia, pseudoarthroses secondary to tibia/fibula bowing)

6. Optic glioma

7. First-degree relative with NF1.

Differential diagnoses for conditions with café au lait patches include:

• Tuberous sclerosis

• McCune-Albright syndrome

• Russell-Silver syndrome

• DNA repair disorders:

– Ataxia telangiectasia
– Bloom syndrome
– Fanconi anaemia

• Noonan’s syndrome

• Idiopathic.

What systems will you now examine and how will you structure your examination?

Practise answering this question before the exam. It is actually quite difficult to do ad hoc and you may find yourself jumping all over the place. It is important to try and be systematic and it may be more fluid to explain yourself as you go along.

• Skin: Examine all skin areas, including the axillae, groin and back.

– Findings: Plexiform neuromas, neurofibromas, pigmented and depigmented patches.

• Cardiovascular: Full cardiovascular examination including blood pressure measurement, listening for renal artery bruits and palpating pulses.

– Findings: Renal artery stenosis, hypertension from phaeochromocytoma or coarctation of the aorta; murmur from pulmonary stenosis.

• Neurological: Full neurological examination (including peripheral and cranial nerves, cognitive function and head circumference measurement).

– Findings: Macrocephaly, learning difficulties, seizure disorder, localised neuropathy or weakness.

• Eyes: Acuity, iris visualisation and fundoscopy.

– Findings: Lisch nodules, optic glioma, hypertensive retinopathy.

• Musculoskeletal: Spine and limb examination, standing and sitting height.

– Findings: Scoliosis, pseudoarthrosis (in particular tibial), short stature.

• Others: Examine for scars.

– Findings: Malignancy resection especially cranial and spinal tumours (overlap with NF2 with acoustic schwannomas).

Try and decide on a structured examination that allows the incorporation of the different systems. Practise the scheme on patients or colleagues to get used to the task.

The disorder is inherited in an autosomal dominant pattern. Fifty percent are familial and the remainder are new mutations. The disorder has an incidence of approximately 1 in 3000 live births.

Neurofibromin is the protein encoded by the NF1 gene, located at 17q11.2. It encodes a large protein that is expressed in brain, kidney, spleen and thymus tissue.

COMMENTS ON STATION 6

DIAGNOSIS: GLOBAL DEVELOPMENTAL DELAY

The child in this case is actually 15 months old. She has developmental delay with truncal hypotonia. It is important not to make statements regarding the child’s true age if it is not known; instead refer to the developmental age.

It is useful to have memorised important milestones – these can be taken from standard texts or assessment tools (e.g. the Denver chart). If you can identify the most advanced task achieved in one developmental area and then demonstrate that the next task is failed it is possible to give a developmental age range. Remember there may be dissociation of development, i.e. one field is more delayed than a second. The developmental age of the child is 6–8 weeks for gross motor but 10 months for fine motor. Both are delayed but discordant with each other.

What additional developmental reflexes could you describe or test in this child?

• Stepping reflex: With the child held in the vertical position their feet should be placed on the floor and then lifted lightly. This should encourage the child to make small stepping motions. This is slightly different from the placing reflex, where the feet are moved towards a small raised object. The feet should lift up to stand on that object. Both these reflexes are present at birth and disappear at approximately 6 weeks.

• Parachute reflex: The infant is moved rapidly face downwards towards a surface from a prone position. Both arms should spread out to break the fall. It appears at about 6 months but should definitely be present by 12 months. You support the child through the movement and don’t let go!

• Atonic neck reflex: The child must be supine and the head rotated to either side. The limbs on the side towards which the head is turned should both extend (with flexion of the contralateral limb). This reflex should disappear by 6 months.

This child had an as yet undiagnosed central neurological problem. Interestingly, her fine motor skills are more developed than her gross motor skills. Do not let this put you off. The developmental station is testing your assessment skills as a paediatrician, not your diagnostic skills as a geneticist or a neurologist.

However, it is important to assess developmental areas individually and not assume an obviously disabled child is delayed in all areas.

COMMENTS ON STATION 7

This is bread-and-butter paediatrics and your examiner would expect you to perform to a high standard in order to pass the station. In order to do this you will need to have an understanding of asthma management in both acute and outpatient settings. Obviously, you must understand the advantages and disadvantages of interventions such as inhaled steroid. Also you must predict what the mother’s agenda is likely to be. What was the reason she didn’t want to start preventative treatment? This is a communication station so a regurgitation of facts about the British Thoracic Society (BTS) guidelines will be of no use if mum is concerned because her mother fractured her hip secondary to steroid use!

How would you initiate the conversation?

On entering the room you should take on the role assigned (in this case the registrar) and introduce yourself as Dr X. You should confirm their names and then politely thank them for coming to see you and explain that you hope not to be disturbed through the consultation. It is good practice early on to let them know that they should feel free to interrupt you and ask questions if anything is unclear.

What do you expect the mother will want to know about the inhaled steroid?

The key to this station is listening attentively and finding out any specific concerns. This is, after all, a communication skills station and you will be expected to show active listening skills. You should then address concerns appropriately.

It is likely that the mother will have heard about steroids and the possible side effects. Often in communication stations a family member has previously been affected deleteriously by a particular drug and the family have obvious concerns for their child being given that drug.

System Side effects
Skin Skin thinning, purpura, alopecia, striae, ‘Cushingoid facies’
Eye Cataracts, glaucoma
Cardiovascular Hypertension, hyperlipidaemia
Gastrointestinal Gastritis and ulceration, pancreatitis, bowel perforation
Renal Fluid and electrolyte imbalance
Musculoskeletal Myopathy, osteoporosis, avascular necrosis
Neurological Hyperactivity, benign intracranial hypertension, euphoria
Endocrine Diabetes mellitus, secondary adrenal insufficiency
Immune system Increased opportunistic and standard infections

In this case you will be able to reassure her that inhaled steroids at the standard dosing do not have the side effects seen in systemic corticosteroid therapy. Inhaled corticosteroids have been shown to cause oral candidiasis; there are case reports of adrenal suppression and short-term linear growth restriction but with attainment of normal adult height.

The inhaled corticosteroids reduce symptoms and improve lung function, while uncontrolled asthma has the potential to cause significant growth restriction, impair exercise tolerance and has an associated mortality. The inhaled steroid dosing should be reviewed regularly and the dose gradually reduced to the lowest that provides good symptom control.

What would you include in an asthma plan for an acute exacerbation?

The BTS again provide up-to-date guidance on this issue. A written asthma plan should be provided for every patient and may be divided into:

1. Mild/intermittent symptoms:

• Take regular prevention medication as prescribed.
• Use reliever inhaler (e.g. two puffs salbutamol every 4 hours) as required.

2. Moderate symptoms:

• Take regular prevention medication as prescribed.
• Start oral prednisolone if prescribed by your doctor.
• Use reliever inhaler (e.g. 2–10 puffs salbutamol every 3–4 hours).
• Seek medical help within 24–36 hours if no improvement in symptoms.

3. Severe symptoms (e.g. too breathless to talk):

• Use reliever inhaler (e.g.10 puffs salbutamol). If no improvement after 5 minutes call for an ambulance and repeat reliever every 20 minutes.

What would be the key issues for managing and monitoring background symptoms?

There is clear guidance from the BTS on the management of asthma. You should ensure that you have read and understood the latest edition of the guidelines (www.brit-thoracic.org.uk.)

The management of asthma should include the following:

• Minimise aggravating factors (e.g. smoking).

• Maximise patient concordance with treatment (e.g. by patient education).

• Patient-oriented goals.

• Age-appropriate treatment delivery (e.g. spacer device with mask for infants).

• Appropriate medication (as per ‘stepwise policy’).

• Appropriate referral to specialist care.

• Aim for minimal symptoms, minimise exacerbations, minimal intervention and normality of life.

COMMENTS ON STATION 8

This is a common scenario in life as a neonatal registrar, in interviews and exams. Remember that the station is targeted at assessing your communication skills and understanding of ethics rather than your in-depth understanding of neonatology.

As with all cases, it is essential to start with a clear introduction of your name and position. You should ask the couple their preferred names and remember to use them in the interview. It would look good if you told the couple that you had made arrangements not to be disturbed. You should ask the couple if they know if the baby is a boy or girl or if they have decided upon a name (so you don’t have to refer to the baby as ‘it’!).

What does resuscitation of a 24-week gestation newborn involve?

For this communication skills station it is useful to have worked on the neonatal unit and to have been involved in the resuscitation of extremely premature babies. For aspects of newborn life support (NLS) you should refer to the Resuscitation Council (www.resus.org.uk) course material. The following is a simple outline of the proceedings:

1. Experienced neonatal team in attendance at the delivery.

2. Neonatal ‘Resuscitaire’, equipment and drugs should be available.

3. Once the baby is born it is transferred to the Resuscitaire to be kept warm and to allow an initial assessment to be made (tone, colour, respiration, heart rate, response and, in the case of extreme prematurity, viability).

4. The baby is then intubated (prophylactic surfactant may be given), ventilation initiated and cardiac massage given with drug administration if appropriate.

5. The baby is transferred to the neonatal unit when stabilised.

An initial approach to the subject might be to ask the couple what they thought would happen if their baby were to be born prematurely. You may find they know far more than you expected or much less than you’d hoped! You can then tailor your discussion to suit their understanding.

In this scenario the following important points may be mentioned:

1. ‘It is sadly not possible for all babies born at this gestation to survive, and the initial resuscitation and first 24 hours are the most crucial.’

2. ‘The resuscitation of an extremely pre-term baby will involve a lot of people and the baby will require a tube being placed into its windpipe for us to give some medicine and to help him or her breathe.’

3. ‘If we are able to stabilise your baby we will take him/her to the neonatal unit where we will keep the baby warm, give fluids by drip and necessary medications.’

4. ‘Babies born this prematurely are poorly developed, in particularly the lungs and brain, and it is possible that the baby will have some long-term problems because of this fact.’

In the UK, morbidity and mortality data are available for neonates born prematurely through the Epicure study (bmj.bmjjournals.com/cgi/content/ full/319/7217/1093/DC1).

Don’t be afraid to offer meetings, patient information sheets or follow-up appointments in the scenarios – if it is available in a hospital it can be ‘available’ here too.

The couple may ask you not to resuscitate the baby when it is born. In this situation you must be sure of your legal and ethical responsibility. It would be important to offer the couple an urgent meeting with the duty consultant. The Royal College of Paediatrics and Child Health (UK) provide guidance in the publication Withholding and Withdrawing Life Sustaining Treatment in Children: A Framework for Practice, May 2004.

Within the document there is a discussion of five occasions when it may be ethical and legal to consider withholding treatment (see p. 119):

1. The ‘brain dead’ child

2. The ‘permanent vegetative state’

3. The ‘no chance’ situation

4. The ‘no purpose’ situation

5. The ‘unbearable’ situation.

Should there be a precipitous delivery prior to resolution of this issue, there is a responsibility to offer resuscitation to an infant showing signs of life.

COMMENTS ON STATION 9

This station is designed to assess your communication skills with the family and history-taking ability. You should follow the instructions given and focus your history on the presenting complaint for the majority of the time. Your time management in this station is essential, and remember: you can always finish talking with the family a minute early and collect your thoughts prior to presenting to the examiner.

How will you structure the interview?

In the time you have available outside the station you should decide what areas you want to cover in the history. A structure for the interview may then be as follows:

1. Initial introduction and clarification of reason for attending the clinic.

2. Period of active listening to ensure you have given the family a chance to tell you their concerns.

3. Directed questioning to ensure you have investigated your differential diagnoses appropriately with a detailed history of a typical ‘attack’.

• When did the first one happen?
• What was he doing beforehand?
• Where were you when it started?
• What was the first thing you noticed?
• What happened next?
4. Repeat the main concerns back to the family and give them another opportunity to add to or clarify them for you.
5. Complete a systematic history. You may want to particularly expand upon the social, schooling and family history.

At the end you should have a good idea of what happened, the main problems, any associated features/precipitants/family history and the nature of these problems, and have formulated a plan of action.

What are your differential diagnoses for ‘loss of consciousness’ in this age group?

System Cause
Neurological Seizure disorder Behavioural Reflex anoxic seizure Cerebrovascular accident
Respiratory Respiratory arrest with hypoxia Cough syncope Breath-holding
Cardiovascular Tachyarrhythmias (SVT, long Q-T)
Bradyarrhythmias (AV conduction defects)
Cardiomyopathy
Vasovagal episodes
Postural hypotension
Shock, including anaphylaxis
Left ventricular outflow obstruction, including aortic stenosis Congenital heart disease (including Fallot’s tetralogy) Pulmonary hypertension
Metabolic Hypoglycaemia
Drug-induced Inhaled nitrites Antihypertensive agents Tricyclic antidepressant
Drugs of abuse (unlikely intentional at this age)

What will your management plan involve?

The plan will depend on the likely cause and this will be determined by information gained in the history. It is known that most children will have normal investigations following a loss of consciousness.

For recurrent episodes that you feel are likely cardiac in origin you may suggest:

• 12-lead ECG and/or exercise testing

• Echocardiography

• Holter monitor (24-hour ambulatory ECG recording)

• Tilt table testing

• Full blood count.

If you feel that the episodes are representing seizure activity, you could suggest:

• Event diary

• Electroencephalogram

• Neuroimaging (CT/MRI)

• Blood glucose, urea and electrolytes, liver function tests, calcium and magnesium.

It is important to give a clear management plan, but do not be ashamed of including in the plan that you would discuss the case with your consultant. It is better to be cautious and ask for advice from senior colleagues.

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