Paediatrics

Question 1

Acute epiglottitis

Answer 1

Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B. Prompt recognition and treatment is essential as airway obstruction may develop. Epiglottitis was generally considered a disease of childhood but in the UK it is now more common in adults due to the immunisation programme. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine.

Features

rapid onset

high temperature, generally unwell

stridor

drooling of saliva

Question 2

Acute lymphoblastic leukaemia

Answer 2

Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias. The peak incidence is at around 2-5 years of age and boys are affected slightly more commonly than girls

Features may be divided into those predictable by bone marrow failure:

anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae

And other features

bone pain (secondary to bone marrow infiltration)

splenomegaly

hepatomegaly

fever is present in up to 50% of new cases (representing infection or constitutional symptom)

testicular swelling

Types

common ALL (75%), CD10 present, pre-B phenotype

T-cell ALL (20%)

B-cell ALL (5%)

Poor prognostic factors

age < 2 years or > 10 years

WBC > 20 * 109/l at diagnosis

T or B cell surface markers

non-Caucasian

male sex

Question 3

Asthma management in children

Answer 3

NICE released guidance on the management of asthma in 2017. These followed on quickly from the 2016 British Thoracic Society (BTS) guidelines. Given previous precedents where specialist societies or Royal colleges eventually default/contribute to NICE, we have followed the NICE guidance for the notes and questions.

Children aged 5-16 with asthma are now managed in a very similar way to adults

Children and young people aged 5 to 16

NICE do not follow the stepwise approach of the previous BTS guidelines. However, to try to make the guidelines easier to follow we’ve added our own steps:

Step

Notes

1

Newly-diagnosed asthma

Short-acting beta agonist (SABA)

2

Not controlled on previous step
OR
Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking

SABA + paediatric low-dose inhaled corticosteroid (ICS)

3

SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)

4

SABA + paediatric low-dose ICS + long-acting beta agonist (LABA)

In contrast to the adult guidance, NICE recommend stopping the LTRA at this point if it hasn’t helped

5

SABA + switch ICS/LABA for a maintenance and reliever therapy (MART), that includes a paediatric low-dose ICS

6

SABA + paediatric moderate-dose ICS MART

OR consider changing back to a fixed-dose of a moderate-dose ICS and a separate LABA

7

SABA + one of the following options:

increase ICS to paediatric high-dose, either as part of a fixed-dose regime or as a MART

a trial of an additional drug (for example theophylline)

seeking advice from a healthcare professional with expertise in asthma

Question 4

Asthma - Children aged less than 5 years

Answer 4

Clearly, it can be difficult to definitively diagnose asthma in young children. NICE acknowledge the greater role for clinical judgement in this age group.

Again, the stepwise approach is our own rather than NICE’s:

Step

Notes

1

Newly-diagnosed asthma

Short-acting beta agonist (SABA)

2

Not controlled on previous step
OR
Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking

SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS)

After 8-weeks stop the ICS and monitor the child’s symptoms:

if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely

if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy

if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS

3

SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)

4

Stop the LTRA and refer to an paediatric asthma specialist

Other points

Maintenance and reliever therapy (MART)

a form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required

Question 5

Attention Deficit Hyperactivity Disorder

Answer 5

March 2018 saw NICE issue new guidance around recognising and managing attention deficit hyperactivity disorder (ADHD). This condition can inflict significant morbidity on a child’s life and thus has consequences into adulthood, making good diagnosis and treatment vital.

DSM-V defines ADHD as a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent. Like many paediatric conditions, there has to be an element of developmental delay. For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features (Table below).

Epidemiology

ADHD has a UK prevalence of 2.4%, about twice that of autism, and is more common in boys than in girls (M:F 4:1);

Most children are diagnosed between the ages of 3 and 7;

There is a possible genetic component.

Inattention Hyperactivity/Impulsivity

Management

NICE stipulates a holistic approach to treating ADHD that isn’t entirely reliant on therapeutics. Following presentation, a ten-week ‘watch and wait’ period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required. This is normally to a paediatrician with a special interest in behavioural disorders, or to the local Child and Adolescent Mental Health Service (CAMHS). Here, the needs and wants of the patient, as well as how their condition affects their lives should be taken into account, to offer a tailored plan of action.

Drug therapy should be seen as a last resort and is only available to those aged 5 years or more. Patients with mild/moderate symptoms can usually benefit from their parents attending education and training programmes. For those who fail to respond, or whose symptoms are severe, pharmacotherapy can be considered:

Methylphenidate is first line in children and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months

If there is inadequate response, switch to lisdexamfetamine;

Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can’t tolerate its side effects.

In adults:

Methylphenidate or lisdexamfetamine are first-line options;

Switch between these drugs if no benefit is seen after a trial of the other.

All of these drugs are potentially cardiotoxic. Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity.

Like most psychiatric conditions, whether adult or paediatric, a thorough history and clinical examination are key, especially given the overlap of ADHD with many other psychiatric and physical conditions.

Question 6

Autosomal dominant conditions

Answer 6

Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:

some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant

some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive

The following conditions are autosomal dominant:

Achondroplasia

Acute intermittent porphyria

Adult polycystic disease

Antithrombin III deficiency

Ehlers-Danlos syndrome

Familial adenomatous polyposis

Hereditary haemorrhagic telangiectasia

Hereditary spherocytosis

Hereditary non-polyposis colorectal carcinoma

Huntington’s disease

Hyperlipidaemia type II

Hypokalaemic periodic paralysis

Malignant hyperthermia

Marfan’s syndromes

Myotonic dystrophy

Neurofibromatosis

Noonan syndrome

Osteogenesis imperfecta

Peutz-Jeghers syndrome

Retinoblastoma

Romano-Ward syndrome

tuberous sclerosis

Von Hippel-Lindau syndrome

Von Willebrand’s disease*

Question 7

Autosomal recessive conditions

Answer 7

Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:

some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidemia type II and hypokalemic periodic paralysis are autosomal dominant

some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive

The following conditions are autosomal recessive:

Albinism

Ataxic telangiectasia

Congenital adrenal hyperplasia

Cystic fibrosis

Cystinuria

Familial Mediterranean Fever

Fanconi anaemia

Friedreich’s ataxia

Gilbert’s syndrome*

Glycogen storage disease

Haemochromatosis

Homocystinuria

Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick

Mucopolysaccharidoses: Hurler’s

PKU

Sickle cell anaemia

Thalassaemias

Wilson’s disease

*this is still a matter of debate and many textbooks will list Gilbert’s as autosomal dominant

Question 8

Bronchiolitis

Answer 8

Bronchiolitis is a condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases. NICE released guidelines on bronchiolitis in 2015. Please see the link for more details.

Epidemiology

most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV

higher incidence in winter

Basics

respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases

other causes: mycoplasma, adenoviruses

may be secondary bacterial infection

more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis

Features

coryzal symptoms (including mild fever) precede:

dry cough

increasing breathlessness

wheezing, fine inspiratory crackles (not always present)

feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission

NICE recommend immediate referral (usually by 999 ambulance) if they have any of the following:

apnoea (observed or reported)

child looks seriously unwell to a healthcare professional

severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute

central cyanosis

persistent oxygen saturation of less than 92% when breathing air.

NICE recommend that clinicians ‘consider’ referring to hospital if any of the following apply:

a respiratory rate of over 60 breaths/minute

difficulty with breastfeeding or inadequate oral fluid intake (50-75% of usual volume ‘taking account of risk factors and using clinical judgement’)

clinical dehydration.

Investigation

immunofluorescence of nasopharyngeal secretions may show RSV

Management is largely supportive

humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%

nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth

suction is sometimes used for excessive upper airway secretions

Question 9

Caput succedaneum

Answer 9

Caput succedaneum describes oedema of the scalp at the presenting part of the head, typically the vertex. This may be due to mechanical trauma of the initial portion of the scalp pushing through the cervix in a prolonged delivery or secondary to the use of ventouse (vacuum) delivery.

Features

soft, puffy swelling due to localised oedema

crosses suture lines

No treatment is needed.

Question 10

Chickenpox

Answer 10

Chickenpox is caused by primary infection with varicella zoster virus. Shingles is a reactivation of the dormant virus in dorsal root ganglion

Chickenpox is highly infectious

spread via the respiratory route

can be caught from someone with shingles

infectivity = 4 days before rash, until 5 days after the rash first appeared*

incubation period = 10-21 days

Clinical features (tend to be more severe in older children/adults)

fever initially

itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular

systemic upset is usually mild

Management is supportive

keep cool, trim nails

calamine lotion

school exclusion: NICE Clinical Knowledge Summaries state the following: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).

immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered

A common complication is secondary bacterial infection of the lesions

NSAIDs may increase this risk

whilst this commonly may manifest as a single infected lesion/small area of cellulitis, in a small number of patients invasive group A streptococcal soft tissue infections may occur resulting in necrotizing fasciitis

Rare complications include

pneumonia

encephalitis (cerebellar involvement may be seen)

disseminated haemorrhagic chickenpox

arthritis, nephritis and pancreatitis may very rarely be seen

Question 11

Developmental milestones: fine motor and vision

Answer 11

The tables below summarises the major fine motor and vision developmental milestones

Age

Milestone

3 months

Reaches for object
Holds rattle briefly if given to hand
Visually alert, particularly human faces
Fixes and follows to 180 degrees

6 months

Holds in palmar grasp
Pass objects from one hand to another
Visually insatiable, looking around in every direction

9 months

Points with finger
Early pincer

12 months

Good pincer grip
Bangs toys together

Bricks

Age

Milestone

15 months

Tower of 2

18 months

Tower of 3

2 years

Tower of 6

3 years

Tower of 9

Drawing

Age

Milestone

18 months

Circular scribble

2 years

Copies vertical line

3 years

Copies circle

4 years

Copies cross

5 years

Copies square and triangle

Book

Age

Milestone

15 months

Looks at book, pats page

18 months

Turns pages, several at time

2 years

Turns pages, one at time

Notes

hand preference before 12 months is abnormal and may indicate cerebral palsy

Question 12

Child health surveillance

Answer 12

The following table gives a basic outline of child health surveillance in the UK

Antenatal

Ensure intrauterine growth
Check for maternal infections e.g. HIV
Ultrasound scan for fetal abnormalities
Blood tests for Neural Tube Defects

Newborn

Clinical examination of newborn
Newborn Hearing Screening Programme e.g. oto-acoustic emissions test
Give mother Personal Child Health Record

First month

Heel-prick test day 5-9 - hypothyroidism, PKU, metabolic diseases, cystic fibrosis, medium-chain acyl Co-A dehydrogenase deficiency (MCADD)
Midwife visit up to 4 weeks*

Following months

Health visitor input
GP examination at 6-8 weeks
Routine immunisations

Pre school

National orthoptist-led programme for pre-school vision screening to be introduced

Ongoing

Monitoring of growth, vision, hearing
Health professionals advice on immunisations, diet, accident prevention

*this doesn’t seem to happen in practice with health visitors usually taking over at 2 weeks

Question 13

Childhood infections

Answer 13

The table below summarises the main characteristics of childhood infections

Infection

Features

Chickenpox

Fever initially
Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
Systemic upset is usually mild

Measles

Prodrome: irritable, conjunctivitis, fever
Koplik spots: white spots (‘grain of salt’) on buccal mucosa
Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent

Mumps

Fever, malaise, muscular pain
Parotitis (‘earache’, ‘pain on eating’): unilateral initially then becomes bilateral in 70%

Rubella

Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
Lymphadenopathy: suboccipital and postauricular

Erythema infectiosum

Also known as fifth disease or ‘slapped-cheek syndrome’
Caused by parvovirus B19
Lethargy, fever, headache
‘Slapped-cheek’ rash spreading to proximal arms and extensor surfaces

Scarlet fever

Reaction to erythrogenic toxins produced by Group A haemolytic streptococci
Fever, malaise, tonsillitis
‘Strawberry’ tongue
Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor)

Hand, foot and mouth disease

Caused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet

Question 14

Childhood syndromes

Answer 14

Below is a list of common features of selected childhood syndromes

Syndrome Key features

Patau syndrome (trisomy 13)

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Edward’s syndrome (trisomy 18)

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Fragile X

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

Noonan syndrome

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Pierre-Robin syndrome*

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

Prader-Willi syndrome

Hypotonia
Hypogonadism
Obesity

William’s syndrome

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Cri du chat syndrome (chromosome 5p deletion syndrome)

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

Question 15

X-linked recessive

Answer 15

In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome. X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.

Each male child of a heterozygous female carrier has a 50% chance of being affected whilst each female child of a heterozygous female carrier has a 50% chance of being a carrier.

The possibility of an affected father having children with a heterozygous female carrier is generally speaking extremely rare. However, in certain Afro-Caribbean communities G6PD deficiency is relatively common and homozygous females with clinical manifestations of the enzyme defect are seen.

X-linked recessive conditions - no male-to-male transmission

Question 16

Trinucleotide repeat disorders

Answer 16

Trinucleotide repeat disorders are genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of three nucleotides. These expansions are unstable and may enlarge which may lead to an earlier age of onset in successive generations - a phenomenon known as anticipation*. In most cases, an increase in the severity of symptoms is also noted

Examples - note dominance of neurological disorders

Fragile X (CGG)

Huntington’s (CAG)

myotonic dystrophy (CTG)

Friedreich’s ataxia* (GAA)

spinocerebellar ataxia

spinobulbar muscular atrophy

dentatorubral pallidoluysian atrophy

*Friedreich’s ataxia is unusual in not demonstrating anticipation

Question 17

Coeliac disease in children

Answer 17

Coeliac disease is caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption. Children normally present before the age of 3 years, following the introduction of cereals into the diet

Genetics

incidence of around 1:100

it is strongly associated with HLA-DQ2 (95% of patients) and HLA-DQ8 (80%)

Features may coincide with the introduction of cereals (i.e. gluten)

failure to thrive

diarrhoea

abdominal distension

older children may present with anaemia

many cases are not diagnosed to adulthood

Diagnosis

jejunal biopsy showing subtotal villous atrophy

anti-endomysial and anti-gliadin antibodies are useful screening tests

Question 18

Congenital heart disease: types

Answer 18

Acyanotic - most common causes

ventricular septal defects (VSD) - most common, accounts for 30%

atrial septal defect (ASD)

patent ductus arteriosus (PDA)

coarctation of the aorta

aortic valve stenosis

Congenital heart disease: presentation

Congenital heart disease may present in a number of ways:

during the antenatal period: imaging of the heart is part of the 18-20 week fetal anomaly scan

murmur: may be detected during the routine newborn examine

cyanosis

heart failure: features may include poor feeding, shortness of breath, sweating, hepatomegaly

Acrocyanosis (peripheral cyanosis around the mouth and extremities) is common in neonates

VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later.

Cyanotic - most common causes

tetralogy of Fallot

transposition of the great arteries (TGA)

tricuspid atresia

Fallot’s is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot’s generally presenting at around 1-2 months

The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.

Question 19

Cyanosis in the neonatal period

Answer 19

Peripheral cyanosis, for example of the feet and hands, is very common in the first 24 hours of life and may occur when the child is crying or unwell from any cause

Central cyanosis can be recognised clinically when the concentration of reduced haemoglobin in the blood exceeds 5g/dl

The nitrogen washout test (also known as the hyperoxia test) may be used to differentiate cardiac from non-cardiac causes. The infant is given 100% oxygen for ten minutes after which arterial blood gases are taken. A pO2 of less than 15 kPa indicates cyanotic congenital heart disease

Causes of cyanotic congenital heart disease

tetralogy of Fallot (TOF)

transposition of the great arteries (TGA)

tricuspid atresia

Initial management of suspected cyanotic congenital heart disease

supportive care

prostaglandin E1

used to maintain a patent ductus arteriosus in ductal-dependent congenital heart defect

Question 20

Acrocyanosis

Answer 20

Acrocyanosis is often seen in healthy newborns and refers to the peripheral cyanosis around the mouth and the extremities (hands and feet) (picture 1). It is caused by benign vasomotor changes that result in peripheral vasoconstriction and increased tissue oxygen extraction and is a benign condition [4]. Acrocyanosis is differentiated from other causes of peripheral cyanosis with significant pathology (eg, septic shock) as it occurs immediately after birth in healthy infants. It is a common finding and may persist for 24 to 48 hours.

Question 21

Aortic stenosis in children

Answer 21

Aortic stenosis accounts for 5% of congenital heart disease

Associations include:

William’s syndrome (causes supravalvular aortic stenosis)

coarctation of the aorta

Turner’s syndrome

Management

aim is to avoid or delay valve replacement if possible

if gradient across valve is > 60 mmHg then balloon valvotomy may be indicated

Question 22

Innocent murmurs

Answer 22

Innocent murmurs heard in children include

Ejection murmurs

Due to turbulent blood flow at the outflow tract of the heart

Venous hums

Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles

Still’s murmur

Low-pitched sound heard at the lower left sternal edge

Characteristics of an innocent ejection murmur include:

soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area

may vary with posture

localised with no radiation

no diastolic component

no thrill

no added sounds (e.g. clicks)

asymptomatic child

no other abnormality

Question 23

Tetralogy of Fallot

Answer 23

Tetralogy of Fallot (TOF) is the most common cause of cyanotic congenital heart disease*. It typically presents at around 1-2 months, although may not be picked up until the baby is 6 months old

TOF is a result of anterior malalignment of the aorticopulmonary septum. The four characteristic features are:

ventricular septal defect (VSD)

right ventricular hypertrophy

right ventricular outflow tract obstruction, pulmonary stenosis

overriding aorta

Question 24

Patent ductus arteriosus

Answer 24

Overview

a form of congenital heart defect

generally classed as ‘acyanotic’. However, uncorrected can eventually result in late cyanosis in the lower extremities, termed differential cynaosis.

connection between the pulmonary trunk and descending aorta

usually the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance

more common in premature babies, born at high altitude or maternal rubella infection in the first trimester

Features

left subclavicular thrill

continuous ‘machinery’ murmur

large volume, bounding, collapsing pulse

wide pulse pressure

heaving apex beat

Management

indomethacin (inhibits prostaglandin synthesis) closes the connection in the majority of cases

if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair

Congenital heart disease

cyanotic: TGA most common at birth, Fallot’s most common overall
acyanotic: VSD most common cause

Question 25

Consent children

Answer 25

The General Medical Council have produced guidelines on obtaining consent in children:

at 16 years or older a young person can be treated as an adult and can be presumed to have capacity to decide

under the age of 16 years children may have capacity to decide, depending on their ability to understand what is involved

where a competent child refuses treatment, a person with parental responsibility or the court may authorise investigation or treatment which is in the child’s best interests*

With regards to the provision of contraceptives to patients under 16 years of age the Fraser Guidelines state that all the following requirements should be fulfilled:

the young person understands the professional’s advice

the young person cannot be persuaded to inform their parents

the young person is likely to begin, or to continue having, sexual intercourse with or without contraceptive treatment

unless the young person receives contraceptive treatment, their physical or mental health, or both, are likely to suffer

the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent

Gillick or Fraser?

Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. The (widespread) rumours that Victoria Gillick removed her permission to use her name or applied copyright have recently been debunked.

More information can be found in the following article:

Wheeler R. Gillick or Fraser? A plea for consistency over competence in children BMJ 2006;332:807

*in Scotland those with parental responsibility cannot authorise procedures a competent child has refused

Question 26

Constipation in children

Answer 26

The frequency at which children open their bowels varies widely, but generally decreases with age from a mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.

NICE produced guidelines in 2010 on the diagnosis and management of constipation in children. A diagnosis of constipation is suggested by 2 or more of the following:

Child < 1 year

Child > 1 year

Stool pattern

Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks
of age)
Hard large stool
‘Rabbit droppings’ (type 1)

Fewer than 3 complete stools per week (type 3 or 4)
Overflow soiling (commonly very loose, very smelly, stool passed without sensation)
'Rabbit droppings' (type 1)
Large, infrequent stools that can block the toilet

Symptoms associated with defecation

Distress on passing stool
Bleeding associated with hard stool
Straining

Poor appetite that improves with passage of large stool
Waxing and waning of abdominal pain with passage of stool
Evidence of retentive posturing: typical straight legged, tiptoed, back arching
posture
Straining
Anal pain

History

Previous episode(s) of constipation
Previous or current anal fissure

Previous episode(s) of constipation
Previous or current anal fissure
Painful bowel movements and bleeding associated with hard stools

The vast majority of children have no identifiable cause - idiopathic constipation. Other causes of constipation in children include:

dehydration

low-fibre diet

medications: e.g. Opiates

anal fissure

over-enthusiastic potty training

hypothyroidism

Hirschsprung’s disease

hypercalcaemia

learning disabilities

After making a diagnosis of constipation NICE then suggesting excluding secondary causes. If no red or amber flags are present then a diagnosis of idiopathic constipation can be made:

Prior to starting treatment the child needs to be assessed for faecal impaction. Factors which suggest faecal impaction include:

symptoms of severe constipation

overflow soiling

faecal mass palpable in abdomen (digital rectal examination should only be carried out by a specialist)

NICE guidelines on management

If faecal impaction is present

polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) using an escalating dose regimen as the first-line treatment

add a stimulant laxative if Movicol Paediatric Plain does not lead to disimpaction after 2 weeks

substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric Plain is not tolerated

inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain

Maintenance therapy

very similar to the above regime, with obvious adjustments to the starting dose, i.e.

first-line: Movicol Paediatric Plain

add a stimulant laxative if no response

substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard

continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce dose gradually

General points

do not use dietary interventions alone as first-line treatment although ensure child is having adequate fluid and fibre intake

consider regular toileting and non-punitive behavioural interventions

for all children consider asking the Health Visitor or Paediatric Continence Advisor to help support the parents.

The NICE guidelines do not specifically discuss the management of very young child. The following recommendations are largely based on the old Clinical Knowledge Summaries recommendations.

Infants not yet weaned (usually < 6 months)

bottle-fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the infant’s legs

breast-fed infants: constipation is unusual and organic causes should be considered

Infants who have or are being weaned

offer extra water, diluted fruit juice and fruits

if not effective consider adding lactulose

Question 27

Cow’s milk protein intolerance/allergy

Answer 27

Cow’s milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants.

Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.

Features

regurgitation and vomiting

diarrhoea

urticaria, atopic eczema

‘colic’ symptoms: irritability, crying

wheeze, chronic cough

rarely angioedema and anaphylaxis may occur

Diagnosis is often clinical (e.g. improvement with cow’s milk protein elimination). Investigations include:

skin prick/patch testing

total IgE and specific IgE (RAST) for cow’s milk protein

Management

If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician.

Management if formula-fed

extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms

amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF

around 10% of infants are also intolerant to soya milk

Management if breastfed

continue breastfeeding

eliminate cow’s milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet

use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months

CMPI usually resolves in most children

in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years

in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years

a challenge is often performed in the hospital setting as anaphylaxis can occur.

The milk ladder can be used after 6 months of age to reintroduce milk protein in children with cows milk protein allergy.

Question 28

Cystic fibrosis

Answer 28

Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel

In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7. Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25

Organisms which may colonise CF patients

Staphylococcus aureus

Pseudomonas aeruginosa

Burkholderia cepacia*

Aspergillus

*previously known as Pseudomonas cepacia

CF is inherited in an autosomal recessive manner. The incidence of CF in the UK is approximately 1/2500, and the carrier rate is 1/25.

As the condition is autosomal recessive, there is a 25% chance she will have a child who does not have CF and who is not a carrier, a 50% chance that she will have a child who does not have CF however is a carrier, and a 25% chance that she will have a child who has cystic fibrosis.

Question 29

Developmental dysplasia of the hip

Answer 29

Developmental dysplasia of the hip (DDH) is gradually replacing the old term ‘congenital dislocation of the hip’ (CDH). It affects around 1-3% of newborns.

Risk factors

female sex: 6 times greater risk

breech presentation

positive family history

firstborn children

oligohydramnios

birth weight > 5 kg

congenital calcaneovalgus foot deformity

DDH is slightly more common in the left hip. Around 20% of cases are bilateral.

Screening for DDH

the following infants require a routine ultrasound examination

first-degree family history of hip problems in early life

breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery

multiple pregnancy

all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests

Clinical examination

Barlow test: attempts to dislocate an articulated femoral head

Ortolani test: attempts to relocate a dislocated femoral head

other important factors include:

symmetry of leg length

level of knees when hips and knees are bilaterally flexed

restricted abduction of the hip in flexion

Ultrasound is used to confirm the diagnosis if clinically suspected

Management

most unstable hips will spontaneously stabilise by 3-6 weeks of age

Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months

older children may require surgery

Kallman’s syndrome is a cause of delayed puberty secondary to hypogonadotrophic hypogonadism. It is not associated with snoring

Question 30

Development problems

Answer 30

Referral points

doesn’t smile at 10 weeks

cannot sit unsupported at 12 months

cannot walk at 18 months

Fine motor skill problems

hand preference before 12 months is abnormal and may indicate cerebral palsy

Gross motor problems

most common causes of problems: variant of normal, cerebral palsy and neuromuscular disorders (e.g. Duchenne muscular dystrophy)

Speech and language problems

always check hearing

other causes include environmental deprivation and general development delay

Question 31

Down’s syndrome: epidemiology and genetics

Answer 31

Risk of Down’s syndrome with increasing maternal age

Age (years)

Risk

20 - 1 in 1,500

30 - 1 in 800

35 - 1 in 270

40 - 1 in 100

45 - 1 in 50 or greater

One way of remembering this is by starting at 1/1,000 at 30 years and then dividing the denominator by 3 (i.e. 3 times more common) for every extra 5 years of age

Cytogenetics

Mode

% of cases

Risk of recurrence

Nondisjunction

94%

1 in 100 if under mother < 35 years

Robertsonian translocation
(usually onto 14)

5%

10-15% if mother is translocation carrier
2.5% if father is translocation carrier

Mosaicism*

1%

The chance of a further child with Down’s syndrome is approximately 1 in 100 if the mother is less than 35 years old. If the trisomy 21 is a result of a translocation the risk is much higher

*Mosaicism is defined as the presence of two genetically different populations of cells in the body

Down’s syndrome: features

Clinical features

face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face

flat occiput

single palmar crease, pronounced ‘sandal gap’ between big and first toe

hypotonia

congenital heart defects (40-50%, see below)

duodenal atresia

Hirschsprung’s disease

Cardiac complications

multiple cardiac problems may be present

endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)

ventricular septal defect (c. 30%)

secundum atrial septal defect (c. 10%)

tetralogy of Fallot (c. 5%)

isolated patent ductus arteriosus (c. 5%)

Later complications

subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour

learning difficulties

short stature

repeated respiratory infections (+hearing impairment from glue ear)

acute lymphoblastic leukaemia

hypothyroidism

Alzheimer’s disease

atlantoaxial instability

Question 32

Eczema in children

Answer 32

Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 6 months but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age

Features

in infants the face and trunk are often affected

in younger children eczema often occurs on the extensor surfaces

in older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck

Management

avoid irritants

simple emollients: large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1. If a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid. Creams soak into the skin faster than ointments. Emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)

topical steroids

in severe cases wet wraps and oral ciclosporin may be used

Question 33

Benign rolandic epilepsy

Answer 33

Benign rolandic epilepsy is a form of childhood epilepsy which typically occurs between the age of 4 and 12 years.

Features

seizures characteristically occur at night

seizures are typically partial (e.g. paraesthesia affecting face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)

child is otherwise normal

EEG characteristically shows centro-temporal spikes

Prognosis is excellent, with seizures stopping by adolescence

Rolandic seizures are a form of epilepsy that is often seen in children but will disappear as they reach adolescence. The seizures start around the central sulcus of the brain (located near the rolandic fissure) and usually present with facial symptoms such as hypersalivation, drooling, loss of speech, facial twitching and numbness of the face or tongue. The seizures can also spread to other parts of the brain and present with symptoms in other areas. Consciousness usually remains during the seizures but it is possible for the patient to not have any recollection in the post-ictal period.

Question 34

Food allergy in children and young people

Answer 34

The 2011 NICE guidelines differentiate between IgE mediated and non-IgE mediated allergies. It should be noted that the guidance does not govern food intolerance, which is not caused by immune system dysfunction.

The first step is to identify possible food allergy and differentiate the possible causes:

IgE-mediated

Non-IgE-mediated

Skin

pruritus

erythema

urticaria

angioedema

Gastrointestinal system

nausea

colicky abdominal pain

vomiting

diarrhoea

Respiratory system

upper respiratory tract symptoms - nasal itching,sneezing, rhinorrhoea or congestion (with or without conjunctivitis)

lower respiratory tract symptoms - cough, chest tightness, wheezing or shortness of breath

Symptoms of anaphylaxis

Skin

pruritus

erythema

atopic eczema

Gastrointestinal system

gastro-oesophageal reflux disease

loose or frequent stools

blood and/or mucus in stools

abdominal pain

infantile colic

food refusal or aversion

constipation

perianal redness

pallor and tiredness

faltering growth plus one or more gastrointestinal symptoms above (with or without significant atopic eczema)

If the history is suggestive of an IgE-mediated allergy

offer a skin prick test or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens

If the history is suggestive of an non-IgE-mediated allergy

eliminate the suspected allergen for 2-6 weeks, then reintroduce. NICE advise to ‘consult a dietitian with appropriate competencies about nutritional adequacies, timings and follow-up’

Question 35

Gastro-oesophageal reflux in children

Answer 35

Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes.

Risk factors

preterm delivery

neurological disorders

Features

typically develops before 8 weeks

vomiting/regurgitation following feeds

Diagnosis is usually made clinically

Management (partly based on the 2015 NICE guidelines)

advise regarding position during feeds - 30 degree head-up

infants should sleep on their backs as per standard guidance to reduce the risk of cot death

ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds

a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum)

a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents

NICE do not recommend a proton pump inhibitor (PPI) or H2 receptor antagonists (H2RA), to treat overt regurgitation in infants and children occurring as an isolated symptom. A trial of one of these agents should be considered if 1 or more of the following apply:

unexplained feeding difficulties (for example, refusing feeds, gagging or choking)

distressed behaviour

faltering growth

prokinetic agents e.g. metoclopramide should only be used with specialist advice

Complications

distress

failure to thrive

aspiration

frequent otitis media

in older children dental erosion may occur

If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered

NICE advise that breastfed infants who have persisting symptoms of frequent regurgitation associated with marked distress should be given a 1-2 week trial of alginate therapy (eg. Gaviscon) following every feed.

If symptoms persist following this then a 4-week trial of a proton pump inhibitor (such as oral omeprazole) or a histamine-2 receptor antagonist (such as oral ranitidine) should be given.

If symptoms still persist despite this then a referral to paediatrics should be considered.

Thickened feeds should be given to bottle-fed infants with reflux.

Question 36

Hand, foot and mouth disease

Answer 36

Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery

Clinical features

mild systemic upset: sore throat, fever

oral ulcers

followed later by vesicles on the palms and soles of the feet

Management

symptomatic treatment only: general advice about hydration and analgesia

reassurance no link to disease in cattle

children do not need to be excluded from school

the HPA recommends that children who are unwell should be kept off school until they feel better

they also advise that you contact them if you suspect that there may be a large outbreak.

Question 37

Headache in children

Answer 37

Some of the following is based on an excellent review article on the Great Ormond Street Hospital website.

Epidemiology

up to 50 per cent of 7-year-olds and up to 80 per cent of 15-year-old have experienced at least one headache

equally as common in boys/girls until puberty then strong (3:1) female preponderance

Migraine

Migraine without aura is the most common cause of primary headache in children. The International Headache Society (IHS) have produced criteria for paediatric migraine without aura:

Acute management

ibuprofen is thought to be more effective than paracetamol for paediatric migraine

NICE CKS recommends that triptans may be used in children >= 12 years but follow-up is required

sumatriptan nasal spay (licensed) is the only triptan that has proven efficacy but it is poorly tolerated by young people who don’t like the taste in the back of the throat

it should be noted that oral triptans are not currently licensed in people < 18 years

side-effects of triptans include tingling, heat and heaviness/pressure sensations

Prophylaxis

the evidence base is limited and no clear consensus guidelines exist

the GOSH website states: ‘in practice, pizotifen and propranolol should be used as first line preventatives in children. Second line preventatives are valproate, topiramate and amitryptiline’

Tension-type headache (TTH)

Tension-type headache is the second most common cause of headache in children. The IHS diagnostic criteria for TTH in children is reproduced below:

Ibuprofen is the first-line treatment for paediatric migraine

Important for meLess important

Ibuprofen is the first-line treatment for paediatric migraines.

Sumatriptan nasal spray is only licensed in children >12 years of age. Oral sumatriptan is not licensed in people <18 years old.

Neither codeine or oramorph is offered for paediatric migraine.

Oral indomethacin is not used to treat paediatric migraines.

Question 38

Hypospadias

Answer 38

Hypospadias is a congenital abnormality of the penis which occurs in approximately 3/1,000 male infants

Hypospadias is characterised by

a ventral urethral meatus

a hooded prepuce

chordee (ventral curvature of the penis) in more severe forms

the urethral meatus may open more proximally in the more severe variants. However, 75% of the openings are distally located.

Hypospadias most commonly occurs as an isolated disorder. Associated urological abnormalities may be seen in up to 40% of infants, of these cryptorchidism is the most frequent (10%).

Corrective surgery is performed before 2 years of age. It is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure. In boys with very distal disease no treatment may be needed

Question 39

Immunisation schedule

Answer 39

The current UK immunisation schedule is as follows.

Age

Recommended immunisations

At birth

BCG if risk factors (see below)

2 months

‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
Men B

3 months*

‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Oral rotavirus vaccine
PCV

4 months

‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B)
Men B

12-13 months

Hib/Men C
MMR
PCV
Men B

2-8 years

Flu vaccine (annual)

3-4 years

‘4-in-1 pre-school booster’ (diphtheria, tetanus, whooping cough and polio)
MMR

12-13 years

HPV vaccination

13-18 years

‘3-in-1 teenage booster’ (tetanus, diphtheria and polio)
Men ACWY

At birth the BCG vaccine should be given if the baby is deemed at risk of tuberculosis (e.g. Tuberculosis in the family in the past 6 months).

Meningitis ACWY vaccine

Note that the meningitis ACWY vaccine has replaced meningitis C for 13-18 year-olds. This is due to an increased incidence of meningitis W disease in recent years. The ACWY vaccine will also be offered to new students (up to the age of 25 years) at university. With respect to getting the vaccine, the NHS give the following advice to patients:

‘GP practices will automatically send letters inviting 17-and 18-year-olds in school year 13 to have the Men ACWY vaccine.

Students going to university or college for the first time as freshers, including overseas and mature students up to the age of 25, should contact their GP to have the Men ACWY vaccine, ideally before the start of the academic year’

Question 40

Immunisation

Answer 40

The Department of Health published guidance in 2006 on the safe administration of vaccines in its publication ‘Immunisation against infectious disease’

General contraindications to immunisation

confirmed anaphylactic reaction to a previous dose of a vaccine containing the same antigens

confirmed anaphylactic reaction to another component contained in the relevant vaccine (e.g. egg protein)

Situations where vaccines should be delayed

febrile illness/intercurrent infection

Contraindications to live vaccines

pregnancy

immunosuppression

Specific vaccines

DTP: vaccination should be deferred in children with an evolving or unstable neurological condition

Not contraindications to immunisation

asthma or eczema

history of seizures (if associated with fever then advice should be given regarding antipyretics)

breastfed child

previous history of natural pertussis, measles, mumps or rubella infection

history of neonatal jaundice

family history of autism

neurological conditions such as Down’s or cerebral palsy

low birth weight or prematurity

patients on replacement steroids e.g. (CAH)

Question 41

Meningitis B vaccine

Answer 41

Children in the UK have been routinely immunised against serotypes A & C of meningococcus for many years. As a result meningococcal B became the most common cause of bacterial meningitis in the UK. A vaccination against meningococcal B (Bexsero) has recently been developed and introduced to the UK market.

The Joint Committee on Vaccination and Immunisation (JCVI) initially rejected the use of Bexsero after doing a cost-benefit analysis. This descision was eventually reversed and meningitis B has now been added to the routine NHS immunisation.

Three doses are now given at:

2 months

4 months

12-13 months

Bexsero will also be available on the NHS for patients at high risk of meningococcal disease, such as people with asplenia, splenic dysfunction or complement disorder.

Question 42

Pneumonia in children

Answer 42

Pathophysiology

S .pneumoniae is the most likely causative agent of a bacterial pneumonia in children

The British Thoracic Society published guidelines in 2011 on the management of community acquired pneumonia in childhood. Key points are summarised below:

Treatment

Amoxicillin is first-line for all children with pneumonia

Macrolides may be added if there is no response to first line therapy

Macrolides should be used if mycoplasma or chlamydia is suspected

In pneumonia associated with influenza, co-amoxiclav is recommended

Question 43

Jaundice in the newborn period

Answer 43

Jaundice in the first 24 hrs is always pathological

Causes of jaundice in the first 24 hrs

rhesus haemolytic disease

ABO haemolytic disease

hereditary spherocytosis

glucose-6-phosphodehydrogenase

Jaundice in the neonate from the c. 2-14 days is common (up to 40%) and usually physiological. It is more commonly seen in breast fed babies

If there are still signs of jaundice after 14 days a prolonged jaundice screen is performed, including:

conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention

direct antiglobulin test (Coombs’ test)

TFTs

FBC and blood film

urine for MC&S and reducing sugars

U&Es and LFTs

Causes of prolonged jaundice

biliary atresia

hypothyroidism

galactosaemia

urinary tract infection

breast milk jaundice

congenital infections e.g. CMV, toxoplasmosis

Most newborn girls have some mucoid white vaginal discharge which usually disappears by 3 months of age

Important for meLess important

Most newborn girls have some mucoid white vaginal discharge which usually disappears by 3 months of age. The most appropriate step is to reassure.

There is no need to refer to paediatrics at this stage.

There is no evidence for sexual abuse.

It is inappropriate to arrange a transvaginal ultrasound for these symptoms.

Haemorrhagic disease of the newborn

Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN). Bleeding may range from minor brushing to intracranial haemorrhages

Breast-fed babies are particularly at risk as breast milk is a poor source of vitamin K. Maternal use of antiepileptics also increases the risk

Because of this all newborns in the UK are offered vitamin K, either intramuscularly or orally

Question 44

Kawasaki disease

Answer 44

Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.

Features

high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics

conjunctival injection

bright red, cracked lips

strawberry tongue

cervical lymphadenopathy

red palms of the hands and the soles of the feet which later peel

Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test.

Management

high-dose aspirin

Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children

intravenous immunoglobulin

echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
Complications

coronary artery aneurysm

Coronary artery aneurysms are a complication of Kawasaki disease and this should be screened for with an echocardiogram

Question 45

Knee problems children and young adults

Answer 45

The table below summarises the key features of common knee problems:

Condition

Key features

Chondromalacia patellae

Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy

Osgood-Schlatter disease
(tibial apophysitis)

Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle

Osteochondritis dissecans

Pain after exercise
Intermittent swelling and locking

Patellar subluxation

Medial knee pain due to lateral subluxation of the patella
Knee may give way

Patellar tendonitis

More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination

Question 46

Growing pains

Answer 46

A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to ‘growing pains’. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’

Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.

Features of growing pains

never present at the start of the day after the child has woken

no limp

no limitation of physical activity

systemically well

normal physical examination

motor milestones normal

symptoms are often intermittent and worse after a day of vigorous activity

Growing pains are a common complaint in children aged 3-12 years. These usually present with children complaining of pains in their legs. When seeing children who are presenting with these symptoms it is important to check that there are no ‘red flags’

Osteosarcoma is rare, but it is an important diagnosis to rule out. Features of osteosarcoma include an unexplained lump, unexplained bone pain or unexplained swelling.

Juvenile rheumatoid arthritis usually presents as fever, rash and symmetrical joint pain and swelling.

Osteochondritis dissecans is a joint disorder in which cracks form in the articular cartilage and underlying subchondral bone. This results in joint pain, locking and swelling.

Bipartite patella is a condition in which the kneecap is formed of 2 separate bones -it is usually asymptomatic.

Question 47

Juvenile idiopathic arthritis: pauciarticular

Answer 47

Juvenile idiopathic arthritis (JIA), now preferred to the older term juvenile chronic arthritis, describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks. Pauciarticular JIA refers to cases where 4 or less joints are affected. It accounts for around 60% of cases of JIA

Features of pauciarticular JIA

joint pain and swelling: usually medium sized joints e.g. knees, ankles, elbows

limp

ANA may be positive in JIA - associated with anterior uveitis

Question 48

Labial adhesions

Answer 48

Labial adhesions

Labial adhesions describe the fusion of the labia minora in the midline. It is usually seen in girls between the ages of 3 months and 3 years and can generally be treated conservatively. Spontaneous resolution tends to occur around puberty. It should be noted that the condition is different from an imperforate hymen.

The majority of cases are symptomatic. Features may include:

problems with micturition including pooling in the vagina

on examination thin semitranslucent adhesions covering the vaginal opening between the labia minora are seen, which sometimes cover the vaginal opening completely

Management

conservative management is appropriate in the majority of cases

if there are associated problems such as recurrent urinary tract infections oestrogen cream may be tried

if this fails surgical intervention may be warranted

Question 49

Measles

Answer 49

Measles is now rarely seen in the developed world following the adoption of immunisation programmes. Outbreaks are occasionally seen, particularly when vaccinations rates drop, for example after the MMR controversy of the early 2000s.

Overview

RNA paramyxovirus

spread by droplets

infective from prodrome until 4 days after rash starts

incubation period = 10-14 days

Features

prodrome: irritable, conjunctivitis, fever

Koplik spots (before rash): white spots (‘grain of salt’) on buccal mucosa

rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent

Koplik spots

Investigations

IgM antibodies can be detected within a few days of rash onset

Management

mainly supportive

admission may be considered in immunosuppressed or pregnant patients

notifiable disease → inform public health

Complications

otitis media: the most common complication

pneumonia: the most common cause of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)

subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness

febrile convulsions

keratoconjunctivitis, corneal ulceration

diarrhoea

increased incidence of appendicitis

myocarditis

The rash typically starts behind the ears and then spreads to the whole body

Management of contacts

if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection)

this should be given within 72 hours

Question 50

Meningitis in children: investigation and management

Answer 50

Investigations

Contraindication to lumbar puncture (any signs of raised ICP)

focal neurological signs

papilloedema

significant bulging of the fontanelle

disseminated intravascular coagulation

signs of cerebral herniation

For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.

Management
1. Antibiotics

< 3 months: IV amoxicillin + IV cefotaxime

> 3 months: IV cefotaxime

2. Steroids

NICE advise against giving corticosteroids in children younger than 3 months

dexamethsone should be considered if the lumbar puncture reveals any of the following:

frankly purulent CSF

CSF white blood cell count greater than 1000/microlitre

raised CSF white blood cell count with protein concentration greater than 1 g/litre

bacteria on Gram stain

3. Fluids

treat any shock, e.g. with colloid

4. Cerebral monitoring

mechanical ventilation if respiratory impairment

5. Public health notification and antibiotic prophylaxis of contacts

ciprofloxacin is now preferred over rifampicin

Consider adding steroids in the management of children > 3 months with meningitis

Paediatric drug doses: emergency

The current BNF should always be consulted prior to prescribing drugs you are unfamiliar with, the following is just a guide

IM benzylpenicillin for suspected meningococcal septicaemia in the community

Age

Dose

< 1 year - 300 mg

1 - 10 years - 600 mg

> 10 years - 1200 mg

Neonates are at a greater risk of meningitis, with greater risks associated with low birth weight, prematurity, traumatic delivery, fetal hypoxia and maternal peripartum infection.

Initial presentation is usually nonspecific. Possible features include raised temperatures, respiratory distress, apnoea, bradycardia episodes, hypotension, feeding difficulty, irritability and reduced activity.

Question 51

Roseola infantum

Answer 51

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.

Features

high fever: lasting a few days, followed later by a

maculopapular rash

Nagayama spots: papular enanthem on the uvula and soft palate

febrile convulsions occur in around 10-15%

diarrhoea and cough are also commonly seen

Other possible consequences of HHV6 infection

aseptic meningitis

hepatitis

School exclusion is not needed.

Question 52

Napkin rashes

Answer 52

Causes of a napkin (‘nappy’) rash include the following:

Type

Notes

Irritant dermatitis

The most common cause, due to irritant effect of urinary ammonia and faeces
Creases are characteristically spared

Candida dermatitis

Typically an erythematous rash which involve the flexures and has characteristic satellite lesions

Seborrhoeic dermatitis

Erythematous rash with flakes. May be coexistent scalp rash

Psoriasis

A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin

Atopic eczema

Other areas of the skin will also be affected

General management points

disposable nappies are preferable to towel nappies

expose napkin area to air when possible

apply barrier cream (e.g. Zinc and castor oil)

mild steroid cream (e.g. 1% hydrocortisone) in severe cases

management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled

Roseola infantum - fever followed later by rash

Question 53

Necrotising enterocolitis

Answer 53

Necrotising enterocolitis is one of the leading causes of death among premature infants. Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis.

Abdominal x-rays are useful when diagnosing necrotising enterocolitis, as they can show:

dilated bowel loops (often asymmetrical in distribution)

bowel wall oedema

pneumatosis intestinalis (intramural gas)

portal venous gas

pneumoperitoneum resulting from perforation

air both inside and outside of the bowel wall (Rigler sign)

air outlining the falciform ligament (football sign)

Early signs of necrotising enterocolitis: feeding intolerance, abdominal distension and bloody stools

Important for meLess important

Early signs of necrotising enterocolitis include feeding intolerance, abdominal distension and bloody stools. Given that this baby is preterm, the risk of developing necrotising enterocolitis is high.

GORD does not present with abdominal distension and bloody stools.

Duodenal atresia usually present with bilious vomiting within the first day of life. It would not cause bloody stools.

Given that this baby was recently discharged, hospital-acquired infection is a possibility. However, given the clinical picture and the preterm status, necrotising enterocolitis is more likely and in reality, needs to be ruled out first.

Question 54

Neonatal blood spot screening

Answer 54

Neonatal blood spot screening (previously called the Guthrie test or ‘heel-prick test’) is performed at 5-9 days of life

The following conditions are currently screened for:

congenital hypothyroidism

cystic fibrosis

sickle cell disease

phenylketonuria

medium chain acyl-CoA dehydrogenase deficiency (MCADD)

maple syrup urine disease (MSUD)

isovaleric acidaemia (IVA)

glutaric aciduria type 1 (GA1)

homocystinuria (pyridoxine unresponsive) (HCU)

Question 55

Nocturnal enuresis

Answer 55

The majority of children achieve day and night time continence by 3 or 4 years of age. Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’

Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)

NICE issued guidance in 2010. Management:

look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset)

advise on fluid intake, diet and toileting behaviour

reward systems (e.g. Star charts). NICE recommend these ‘should be given for agreed behaviour rather than dry nights’ e.g. Using the toilet to pass urine before sleep

NICE advises: ‘Consider whether an alarm or drug treatment is appropriate, depending on the age, maturity and abilities of the child or young person, the frequency of bedwetting and the motivation and needs of the family’. Generally:

an enuresis alarm is first-line for children under the age of 7 years

desmopressin may be used first-line for children over the age 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family

please see the link for more details

Question 56

Obesity in children

Answer 56

Defining obesity is more difficult in children than adults as body mass index (BMI) varies with age. BMI percentile charts are therefore needed to make an accurate assessment. Recent NICE guidelines suggest to use ‘UK 1990 BMI charts to give age- and gender-specific information’

NICE recommend

consider tailored clinical intervention if BMI at 91st centile or above.

consider assessing for comorbidities if BMI at 98th centile or above

By far the most common cause of obesity in childhood is lifestyle factors. Other associations of obesity in children include:

Asian children: four times more likely to be obese than white children

female children

taller children: children with obesity are often above the 50th percentile in height

Cause of obesity in children

growth hormone deficiency

hypothyroidism

Down’s syndrome

Cushing’s syndrome

Prader-Willi syndrome

Consequences of obesity in children

orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains

psychological consequences: poor self-esteem, bullying

sleep apnoea

benign intracranial hypertension

long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease

Obesity can cause snoring in children

Snoring is the description of noisy breathing during sleep. The snoring sound can be generated in the nose, at the level of the soft palate and uvula, at the level of the pharyngeal wall and tonsils and/or at the base of the tongue. Some of the most common causes of snoring in children are;

obesity

nasal problems: polyps, deviated septum, hypertrophic nasal turbinates

recurrent tonsillitis

Down’s syndrome

hypothyroidism

Snoring in children

Causes

obesity

nasal problems: polyps, deviated septum, hypertrophic nasal turbinates

recurrent tonsillitis

Down’s syndrome

hypothyroidism

Question 57

Ophthalmia neonatorum

Answer 57

Ophthalmia neonatorum simply means infection of the newborn eye.

Responsible organisms include

Chlamydia trachomatis

Neisseria gonorrhoeae

Suspected ophthalmia neonatorum should be referred for same-day ophthalmology/paediatric assessment.

Question 58

Paediatric basic life support

Answer 58

The 2015 Resuscitation Council guidelines made the following changes to paediatric basic life support

compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used

age definitions: an infant is a child under 1 year, a child is between 1 year and puberty

Key points of algorithm (please see link attached for more details)

unresponsive?

shout for help

open airway

look, listen, feel for breathing

give 5 rescue breaths

check for signs of circulation

15 chest compressions:2 rescue breaths (see above)

Question 59

Paediatric umbilical disorders

Answer 59

Embryology

During development the umbilicus has two umbilical arteries and one umbilical vein. The arteries are continuous with the internal iliac arteries and the vein is continuous with the falciform ligament (ductus venosus). After birth, the cord dessicates and separates and the umbilical ring closes.

Umbilical hernia

Up to 20% of neonates may have an umbilical hernia, it is more common in premature infants. The majority of these hernias will close spontaneously (may take between 12 months and three years). Strangulation is rare.

Paraumbilical hernia

These are due to defects in the linea alba that are in close proximity to the umbilicus. The edges of a paraumbilical hernia are more clearly defined than those of an umbilical hernia. They are less likely to resolve spontaneously than an umbilical hernia.

Omphalitis

This condition consists of an infection of the umbilicus. Infection with Staphylococcus aureus is the commonest cause. The condition is potentially serious as infection may spread rapidly through the umbilical vessels in neonates with a risk of portal pyaemia, and portal vein thrombosis. Treatment is usually with a combination of topical and systemic antibiotics.

Umbilical granuloma

These consist of cherry red lesions surrounding the umbilicus, they may bleed on contact and be a site of seropurulent discharge. Infection is unusual and they will often respond favourably to chemical cautery with topically applied silver nitrate.

Persistent urachus

This is characterised by urinary discharge from the umbilicus. It is caused by persistence of the urachus which attaches to the bladder. They are associated with other urogenital abnormalities.

Persistent vitello-intestinal duct

This will typically present as an umbilical discharge that discharges small bowel content. Complete persistence of the duct is a rare condition. Much more common is the persistence of part of the duct (Meckel’s diverticulum). Persistent vitello-intestinal ducts are best imaged using a contrast study to delineate the anatomy and are managed by laparotomy and surgical closure.

Question 60

Perinatal death rates

Answer 60

Perinatal mortality rate

still births + neonatal deaths in 7 days per 1,000 births after 24 weeks gestation

around 8 per 1,000

Maternal mortality rate = deaths in pregnancy, labour & 6 weeks afterwards / total maternities * 1000

Stillbirth rate = babies born dead after 24 weeks / total births (live + stillborn) * 1000

Neonatal death rate = babies dying between 1-28 days / total live births * 1000

Meconium aspiration syndrome

Meconium aspiration syndrome refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period. It is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. It causes respiratory distress, which can be severe. Higher rates occur where there is a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking or substance abuse.

Chest x-ray in transient tachypnoea of the newborn may show hyperinflation and fluid in the horizontal fissure

Important for meLess important

It is important to note that even if you suspect transient tachypnoea of the newborn the baby should be screened and treated for sepsis. Transient tachypnoea of the newborn is the commonest cause of respiratory distress in a neonate and will resolve in 24-48 hours.

X-ray will show hyperinflation and fluid in the horizontal fissure.

Ground glass appearance and low volume lungs are seen in respiratory distress syndrome.

Asymmetric patchy opacities are seen in meconium aspiration syndrome.

A pneumothorax is associated with mechanical ventilation but should be carefully looked for in all chest x-rays.

Transient tachypnoea of the newborn

Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs

It is more common following Caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal

Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure

Supplementary oxygen may be required to maintain oxygen saturations. Transient tachypnoea of the newborn usually settles within 1-2 days

s two trained members of staff are present the ratio of chest compressions to ventilations should be 15:2

Question 61

Perthes’ disease

Answer 61

Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.

Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral

Features

hip pain: develops progressively over a few weeks

limp

stiffness and reduced range of hip movement

x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening

Diagnosis

plain x-ray

technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist

Complications

osteoarthritis

premature fusion of the growth plates

Question 62

Precocious puberty

Answer 62

Definition

‘development of secondary sexual characteristics before 8 years in females and 9 years in males’

more common in females

Some other terms

thelarche (the first stage of breast development)

adrenarche (the first stage of pubic hair development)

May be classified into:

1. Gonadotrophin dependent (‘central’, ‘true’)

due to premature activation of the hypothalamic-pituitary-gonadal axis

FSH & LH raised

2. Gonadotrophin independent (‘pseudo’, ‘false’)

due to excess sex hormones

FSH & LH low

Males - uncommon and usually has an organic cause

Testes

bilateral enlargement = gonadotrophin release from intracranial lesion

unilateral enlargement = gonadal tumour

small testes = adrenal cause (tumour or adrenal hyperplasia)

Females - usually idiopathic or familial and follows normal sequence of puberty

Organic causes

are rare, associated with rapid onset, neurological symptoms and signs and dissonance

e.g. McCune Albright syndrome

Question 63

Puberty

Answer 63

Males

first sign is testicular growth at around 12 years of age (range = 10-15 years)

testicular volume > 4 ml indicates onset of puberty

maximum height spurt at 14

Females

first sign is breast development at around 11.5 years of age (range = 9-13 years)

height spurt reaches its maximum early in puberty (at 12) , before menarche

menarche at 13 (11-15)

there is an increase of only about 4% of height following menarche

Normal changes in puberty

gynaecomastia may develop in boys

asymmetrical breast growth may occur in girls

diffuse enlargement of the thyroid gland may be seen

Question 64

Pyloric stenosis

Answer 64

Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus.

Epidemiology

incidence of 4 per 1,000 live births

4 times more common in males

10-15% of infants have a positive family history

first-borns are more commonly affected

Features

‘projectile’ vomiting, typically 30 minutes after a feed

constipation and dehydration may also be present

a palpable mass may be present in the upper abdomen

hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

Diagnosis is most commonly made by ultrasound.

Management is with Ramstedt pyloromyotomy.

Question 65

Retinoblastoma

Answer 65

Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.

Pathophysiology

autosomal dominant

caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13

around 10% of cases are hereditary

Possible features

absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom

strabismus

visual problems

Management

enucleation is not the only option

depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation

Prognosis

excellent, with > 90% surviving into adulthood

Question 66

Scarlet fever

Answer 66

Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.

Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).

Scarlet fever has an incubation period of 2-4 days and typically presents with:

fever: typically lasts 24 to 48 hours

malaise, headache, nausea/vomiting

sore throat

‘strawberry’ tongue

rash - fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles. Children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures. It is often described as having a rough ‘sandpaper’ texture. Desquamination occurs later in the course of the illness, particularly around the fingers and toes

Diagnosis

a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results

Management

oral penicillin V for 10 days

patients who have a penicillin allergy should be given azithromycin

children can return to school 24 hours after commencing antibiotics

scarlet fever is a notifiable disease

Scarlet fever is usually a mild illness but may be complicated by:

otitis media: the most common complication

rheumatic fever: typically occurs 20 days after infection

acute glomerulonephritis: typically occurs 10 days after infection

invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness

Question 67

School exclusion

Answer 67

The table below summarises Health Protection Agency guidance on school exclusion

Advice

Condition(s)

No exclusion

Conjunctivitis
Fifth disease (slapped cheek)
Roseola
Infectious mononucleosis
Head lice
Threadworms
Hand, foot and mouth

24 hours after commencing antibiotics

Scarlet fever

2 days after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )

Whooping cough

4 days from onset of rash

Measles
Rubella

All lesions crusted over

Chickenpox*

5 days from onset of swollen glands

Mumps

Until symptoms have settled for 48 hours

Diarrhoea & vomiting

Until lesions have crusted over

Impetigo

Until treated

Scabies

Until recovered

Influenza

*the official advice regarding school exclusion for chickenpox has gone back and forth over recent years. In September 2017 Public Health England advocated the following:

Cases of chickenpox are generally infectious from 2 days before the rash appears to 5 days after the onset of rash.

Although the usual exclusion period is 5 days, all lesions should be crusted over before children return to nursery or school.

However, Clinical Knowledge Summaries are a bit vaguer:

Advise that the most infectious period is 1-2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash)

Question 68

Seborrhoeic dermatitis in children

Answer 68

Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp (‘Cradle cap’), nappy area, face and limb flexures.

Cradle cap is an early sign which may develop in the first few weeks of life. It is characterised by an erythematous rash with coarse yellow scales.

Management depends on severity

mild-moderate: baby shampoo and baby oils

severe: mild topical steroids e.g. 1% hydrocortisone

Question 69

Sudden infant death syndrome

Answer 69

Sudden infant death syndrome is the commonest cause of death in the first year of life. It is most common at 3 months of age.

Major risk factors

putting the baby to sleep prone: the relative risk or odds ratio varies from 3.5 - 9.3. If not accustomed to prone sleeping (i.e. the baby usually sleeps on their back) the odds ratio increases to 8.7-45.4

parental smoking: studies suggest this increases the risk up to 5 fold

prematurity: 4-fold increased risk

bed sharing: odds ratio 5.1

hyperthermia (e.g. over-wrapping) or head covering (e.g. blanket accidentally moves)

Other risk factors

male sex

multiple births

social classes IV and V

maternal drug use

incidence increases in winter

It is important to remember that these odds are additive. For example, if both parents smoke, the mother had consumed two units of alcohol and they then shared a bed with the infant the adjusted odds ratio was shown to be 89.7.

Protective factors

breastfeeding

room sharing (but not bed sharing, which is a significant risk factor)

the use of dummies (pacifiers)

Following a cot death siblings should be screened for potential sepsis and inborn errors of metabolism.

Question 70

Surfactant deficient lung disease

Answer 70

Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs

The risk of SDLD decreases with gestation

50% of infants born at 26-28 weeks

25% of infants born at 30-31 weeks

Other risk factors for SDLD include

male sex

diabetic mothers

Caesarean section

second born of premature twins

Clinical features are those common to respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis

Chest x-ray characteristically shows ‘ground-glass’ appearance with an indistinct heart border

Management

prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation

oxygen

assisted ventilation

exogenous surfactant given via endotracheal tube

Neonatal respiratory distress syndrome (NRDS) is primarily a disease of pre-term neonates due to surfactant deficiency. Deficiency of surfactant results in an increased alveolar surface tension, thereby resulting in decreased compliance and increased work of breathing. Natural maternal glucocorticosteroids are very important for surfactant production in the foetus, and therefore synthetic steroids are the first line agents for preventing NRDS in pregnancies at risk of pre-term birth. Tocolytics are agents that can be used to suppress pre-term labour, however they are not routinely used. Since administration of maternal steroids takes one to two days to increase surfactant levels, tocolytics can be considered in certain situations to buy time.

Although curosurf, continuous positive airway pressure, and extracorporeal membrane oxygenation can be an effective form of treatment for NRDS they are not used prophylactically.

Question 71

Threadworms

Answer 71

Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment.

Threadworm infestation is asymptomatic in around 90% of cases, possible features include:

perianal itching, particularly at night

girls may have vulval symptoms

Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.

Management

CKS recommend a combination of anthelmintic with hygiene measures for all members of the household

mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists

Question 72

Transient synovitis

Answer 72

Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain associated with a viral infection. The typical age group is 2-10 years.

A low-grade fever is present in a minority of patients but high fever should raise the suspicion of other causes such as septic arthritis.

It is the commonest cause of hip pain in children.

Transient synovitis is self-limiting, requiring only rest and analgesia.

Question 73

Undescended testis

Answer 73

Undescended testis occurs in around 2-3% of term male infants, but is much more common if the baby is preterm. Around 25% of cases are bilateral.

Complications of undescended testis

infertility

torsion

testicular cancer

psychological

Management

Unilateral undescended testis

NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age

Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age

Bilateral undescended testes

Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Question 74

Urinary tract infection in children: investigation

Answer 74

In contrast to adults, the development of a urinary tract infection (UTI) in childhood should prompt consideration of a possible underlying causes and damage to the kidneys (renal scarring)

NICE guidelines for imaging the urinary tract

infants < 6 months who present with a first UTI which responds to treatment should have an ultrasound within 6 weeks

children > 6 months who present with a first UTI which responds to treatment do not require imaging unless there are features suggestive of an atypical infection (see below) or recurrent infection

Features of suggestive of an atypical infection

seriously ill

poor urine flow

abdominal or bladder mass

raised creatinine

septicaemia

failure to respond to treatment with suitable antibiotics within 48 hours

infection with non-E. coli organisms

Possible further investigations

urine for microscopy and culture: urine should be sent for culture as only 50% of children with a UTI have pyuria. Microscopy or dipstick of the urine is therefore inadequate for diagnosis

static radioisotope scan (e.g. DMSA): identifies renal scars. Should be done 4-6 months after initial infection

micturating cystourethrography (MCUG): identifies vesicoureteric reflux. Only recommended for infants younger than 6 months who present with atypical or recurrent infections

Question 75

Whooping cough (pertussis)

Answer 75

Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children. There are around 1,000 cases are reported each year in the UK.

Immunisation

infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced

neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations

Features, 2-3 days of coryza precede onset of:

coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis

inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)

infants may have spells of apnoea

persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures

symptoms may last 10-14 weeks* and tend to be more severe in infants

marked lymphocytosis

Diagnostic criteria
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:

Paroxysmal cough.

Inspiratory whoop.

Post-tussive vomiting.

Undiagnosed apnoeic attacks in young infants.

Diagnosis

per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back

PCR and serology are now increasingly used as their availability becomes more widespread

Management

infants under 6 months with suspect pertussis should be admitted

in the UK pertussis is a notifiable disease

an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread

household contacts should be offered antibiotic prophylaxis

antibiotic therapy has not been shown to alter the course of the illness

school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )

Complications

subconjunctival haemorrhage

pneumonia

bronchiectasis

seizures

Vaccination of pregnant women

In 2012 there was an outbreak of whooping cough (pertussis) which resulted in the death of 14 newborn children. As a temporary measure, a vaccination programme was introduced in 2012 for pregnant women. This has successfully reduced the number of cases of whooping cough (the vaccine is thought to be more than 90% effective in preventing newborns developing whooping cough). It was however decided in 2014 to extend the whooping cough vaccination programme for pregnant women. This decision was taken as there was a ‘great deal of uncertainty’ about the timing of future outbreaks.

Women who are between 20-32 weeks pregnant will be offered the vaccine.

*weeks, not days

Question 76

Wilms’ tumour

Answer 76

Wilms’ nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old.

Associations

Beckwith-Wiedemann syndrome

as part of WAGR syndrome with Aniridia, Genitourinary malformations, mental Retardation

hemihypertrophy

around one-third of cases are associated with a loss-of-function mutation in the WT1 gene on chromosome 11

Features

abdominal mass (most common presenting feature)

painless haematuria

flank pain

other features: anorexia, fever

unilateral in 95% of cases

metastases are found in 20% of patients (most commonly lung)

Referral

children with an unexplained enlarged abdominal mass in children - possible Wilm’s tumour - arrange paediatric review with 48 hours

Management

nephrectomy

chemotherapy

radiotherapy if advanced disease

prognosis: good, 80% cure rate