Paediatric vital signs

Age Heart rate Respiratory rate

<1 110 - 160 30 - 40

1-2 100 - 150 25 – 35

2-5 90 - 140 25 – 30

5 - 12 80 - 120 20 – 25

> 12 60 - 100 15 – 20

Growth charts
The UK has recently switched to the new growth charts based on the WHO growth
standard for children under the age of 5 years. The new UK-WHO charts have a separate
preterm section and a 0-1 year section.

Key points

 based on data from breast fed infants and all ethnic groups
 the data matches UK children well for height and length but after 6 months UK
children and slightly more heavy and more likely to be above the 98% centile
 preterm infants born at 32-36 weeks have a separate chart until 2 weeks post-term

Please see the comprehensive review by Wright CM et al. BMJ 2010; 340:c1140 for more
information.

1
 Childhood syndromes
Syndrome Key features

Patau syndrome (trisomy Microcephalic, small eyes

13) Cleft lip/palate
Polydactyly
Scalp lesions

Edward's syndrome Micrognathia

(trisomy 18) 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

*this condition has many similarities with Treacher-Collins syndrome. One of the key
differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a
family history of similar problems

2
polydactyly

3
---------------------------------------------------------------------------------------------

4
Noonans Syndrome

5
---------------------------------------------------------------------------------------------------------------------
---

Pradder Willi Syndrome

6
 Williams Syndrome

Down's syndrome: epidemiology and genetics

Down's syndrome risk - 1/1,000 at 30 years then divide by 3 for every 5 years

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 

7
Cytogenetics

Mode % of cases Risk of recurrence

Non-disjunction 94% 1 in 100 if under mother < 35 years

Robertsonian translocation 5% 10-15% if mother is translocation carrier

(usually onto 14) 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

Down syndrome: features

Clinical features

 face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris,

protruding tongue, small ears, round/flat face
 flat occiput
 single palmar crease, pronounced 'sandal gap' between big and first toe
 hypotonia

8
  congenital heart defects (40-50%, see below)
 duodenal atresia
 Hirschsprung's disease

Cardiac complications

 multiple cardiac problems may be present

 endocardial cushion defect (c. 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
 atlantoaxial instability

Down's syndrome: vision and hearing problems

Individuals with Down's syndrome are more likely to suffer from vision and hearing
problems, as detailed below:

Vision

 refractive errors are more common

 strabismus: seen in around 20-40%
 cataracts: congenital and acquired are both more common
 recurrent blepharitis
 glaucoma

Hearing

9
  otitis media and glue ear are very common resulting in hearing problems

Kallman's syndrome

Kallman's syndrome is a recognised cause of delayed puberty secondary to

hypogonadotrophic hypogonadism. It is usually inherited as an X-linked recessive trait.
Kallman's syndrome is thought to be caused by failure of GnRH-secreting neurons to
migrate to the hypothalamus.
The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty

Features

 'delayed puberty'
 hypogonadism, cryptorchidism
 anosmia
 sex hormone levels are low
 LH, FSH levels are inappropriately low/normal
 patients are typically of normal or above average height

Cleft lip/palate and visual/hearing defects are also seen in some patients.

Kallman syndrome is a rare genetic condition associated with deficient GnRH

(gonadotrophin deficient releasing hormone) and anosmia (or severe hyposmia). 

This leads to a state of hypogonadotrophic hypogonadism. Within the hormone profile this
is characterised by a low testosterone, low FSH and low LH. 

This is in contrast to Kleinfelter Syndrome a chromosomal abnormality leading to an extra

x-chromosome in males 47XXY. This condition causes a hypergonadotrophic
hypoganadism (raised FSH and LH and reduced testosterone).

Turner's syndrome

Turner's syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is

caused by either the presence of only one sex chromosome (X) or a deletion of the short
arm of one of the X chromosomes. Turner's syndrome is denoted as 45,XO or 45,X

Features

 short stature
 shield chest, widely spaced nipples
 webbed neck
 bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
 primary amenorrhoea

10
  cystic hygroma (often diagnosed prenatally)
 high-arched palate
 short fourth metacarpal
 multiple pigmented naevi
 lymphoedema in neonates (especially feet)

There is also an increased incidence of autoimmune disease (especially autoimmune

thyroiditis) and Crohn's disease
Turner's syndrome is a genetic condition due to a loss or abnormality of one X
chromosome. In infancy, children often have difficulty with feeding which contributes to
poor weight gain, although the often have short stature too when older. Babies with
Turner's syndrome often have multiple dysmorphic features, but a webbed neck is often
classical. It is also associated with cardiac abnormalities, in this question aortic stenosis
although others are also common. Chromosome analysis would be needed to confirm the
diagnosis.
While Down's syndrome babies would have many of the dysmorphic features, they would
not usually have a webbed neck or micrognathia. They may have loose skin at the nape of
the neck but not webbing. It is caused by Trisomy 21. 

Klinefelter's syndrome is caused by having an extra X chromosome. They are often tall in
stature with small testes and gynaecomastia. They do not tend to have the dysmorphic
features.
Fragile X syndrome is due to a CGG repeat on the X chromosome. They tend to have
learning difficulties, long ears, mitral valve prolapse and a large forehead and jaw. 

Patau's syndrome is caused by trisomy 13. They do tend to have intrauterine growth
restriction leading to low birth weight, and can have congenital heart defects and ear
abnormalities. However, they do not have webbing of the neck, and eye dysmorphic
features tend to be microphthalmia or anophthalmia. They typically have rocker bottom
feet and polydactyly.

11
Daniel is a newborn who is having his baby check done by nurse Karen, who notices that he
has microcephaly with a prominent occiput, low set ears, micrognathia, palpebral fissures
and wide spaced eyes. What genetic disorder are these features suggestive of?

12
All of the aforementioned characteristics can be present in Edward's syndrome.
Furthermore, individual's with Edward's syndrome can also have:

 Ptosis
 Rocker bottom feet
 Undescended testes

Physical features of Down's syndrome include having a small chin, slanted eyes, flat nasal
bridge and single palmar creases.
Turner's syndrome presents with a webbed neck, short stature and low set ears. Turner's
syndrome, however, can only affect females, meaning it is an incorrect answer for this
scenario.
Noonan syndrome presents with mainly skeletal characteristics, such as short stature,
scoliosis, pectus carinatum and excavatum, winging of the scapula and joint hypermobility,
among others.
Angelman syndrome is a condition which greatly affects functioning and behaviour,
meaning these are the most prominent features. Some physical attributes can be present,
including microcephaly, hypopigmented skin and eyes, prominent mandible and wide
mouth.

+++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++

Milestones

Developmental milestones: gross motor

Age Milestone

3 months Little or no head lag on being pulled to sit

Lying on abdomen, good head control
Held sitting, lumbar curve

6 months Lying on abdomen, arms extended

Lying on back, lifts and grasps feet
Pulls self to sitting
Held sitting, back straight
Rolls front to back

7-8 months Sits without support (Refer at 12 months)

9 months Pulls to standing

13
Age Milestone

Crawls

12 months Cruises
Walks with one hand held

13-15 months Walks unsupported (Refer at 18 months)

18 months Squats to pick up a toy

2 years Runs
Walks upstairs and downstairs holding on to rail

3 years Rides a tricycle using pedals

Walks up stairs without holding on to rail

4 years Hops on one leg

Notes

 the majority of children crawl on all fours before walking but some children
'bottom-shuffle'. This is a normal variant and runs in families

14
Developmental milestones: social behaviour and play

Age Milestone

6 weeks Smiles (Refer at 10 weeks)

3 months Laughs
Enjoys friendly handling

6 months Not shy

9 months Shy
Takes everything to mouth

Feeding
Age Milestone

May put hand on bottle when being fed 6 months

Drinks from cup + uses spoon, develops over 3 month period 12 -15 months

Competent with spoon, doesn't spill with cup 2 years

Uses spoon and fork 3 years

Uses knife and fork 5 years

15
Age Milestone

Dressing
Age Milestone

Helps getting dressed/undressed 12-15 months

Takes off shoes, hat but unable to replace 18 months

Puts on hat and shoes 2 years

Can dress and undress independently except for laces and buttons 4 years

Play
Age Milestone

Plays 'peek-a-boo' 9 months

Waves 'bye-bye' 12 months

Plays 'pat-a-cake'

Plays contentedly alone 18 months

Plays near others, not with them 2 years

Plays with other children 4 years

Developmental milestones: fine motor and vision

16
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

17
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

This is because hand dominance prior to 18 months of age is seen to be a red flag
sign within development. It can indicate a hemiparesis or be an early sign of cerebral
palsy.

Other red flags in gross motor development include:

 Persistent fisting beyond 3 months

 Early rolling over, early pulling to a stand instead of sitting, and persistent toe
walking may all indicate spasticity.
 Spontaneous postures, such as scissoring in a child with spasticity or a frog-level
position in a hypotonic infant, are important visual clues to motor abnormalities

Developmental milestones: speech and hearing

18
The table below summarises the major speech and hearing developmental milestones

Age Milestone

3 months Quietens to parents voice

Turns towards sound
Squeals

6 months Double syllables 'adah', 'erleh'

9 months Says 'mama' and 'dada'

Understands 'no'

12 months Knows and responds to own name

12-15 months Knows about 2-6 words (Refer at 18 months)

Understands simple commands - 'give it to mummy'

2 years Combine two words

Points to parts of the body

2½ years Vocabulary of 200 words

3 years Talks in short sentences (e.g. 3-5 words)

Asks 'what' and 'who' questions
Identifies colours
Counts to 10 (little appreciation of numbers though)

4 years Asks 'why', 'when' and 'how' questions

Development problems

Referral points

 doesn't smile at 10 weeks

 cannot sit unsupported at 12 months
 cannot walk at 18 months

Fine motor skill problems

19
  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

Neonatal blood spot screening

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
 phenylketonuria
 sickle cell disease
 medium chain acyl-CoA dehydrogenase deficiency (MCADD)

Child health surveillance

The routine surveillance reviews at 8 months, 2 years and 3-4 years have now being
stopped. However, if a child is deemed 'at risk' more frequent reviews are advisable

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

20
 Ensure intrauterine growth
Check for maternal infections e.g. HIV
Ultrasound scan for fetal abnormalities
Antenatal 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 Health visitor input

months GP examination at 6-8 weeks
Routine immunizations

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
The Newborn Hearing Screening Programme is gradually replacing distraction testing as
the major screening test of infant hearing. In everyday practice it is uncommon for
midwives to visit up to 4 weeks.

Child health surveillance: the 6 week check

The '6 week check' is usually carried out at 6-8 weeks of age

Baby's health

General physical examination 

 particular emphasis on eyes (cataracts), heart, hips and testes

 measure weight and head circumference
 developmental assessment

21
Health promotion

 immunisation
 feeding
 sleeping position
 passive smoking
 car safety and injury prevention

Maternal health

Mother Health >>> Identification of postnatal depression

Vitamin supplementation in children

The Department of Health advises that all children should be given supplemental vitamins
A, C and D from age 6 months to 5 years (unless they are taking more than 500ml of infant
formula per day, as this is fortified with vitamins). The supplements are given as drops
which can be bought over the counter; some children are eligible for free drops under the
Healthy Start scheme - the Health Visitor can advise. 
Low birthweight babies may be advised to commence supplementation from a younger age
by the paediatric team. 

Vitamin D supplementation

Vitamin D supplementation has been a hot topic for a number of years now. The muddied
waters are now slightly clearer following the release of the following:

 2012: letter by the Chief Medical Officer regarding vitamin D supplementation

 2013: National Osteoporosis Society (NOS) release UK Vitamin D guideline

The following groups should be advised to take vitamin D supplementation:

 all pregnant and breastfeeding women should take a daily supplement containing
10µg of vitamin D
 all children aged 6 months - 5 years. Babies fed with formula milk do not need to
take a supplement if they are taking more than 500ml of milk a day, as formula milk
is fortified with vitamin D
 adults > 65 years
 'people who are not exposed to much sun should also take a daily supplement'

22
Testing for vitamin D deficiency

The key message is that not many people warrant a vitamin D test. The NOS guidelines
specify that testing may be appropriate in the following situtations:

 patients with bone diseases that may be improved with vitamin D treatment e.g.
known osteomalacia or Paget's disease
 patients with bone diseases, prior to specific treatment where correcting vitamin
deficiency is appropriate e,g, prior to intravenous zolendronate or denosumab
 patients with musculoskeletal symptoms that could be attributed to vitamin D
deficiency e.g. bone pain ?osteomalacia

Patients with osteoporosis should always be given calcium/vitamin D supplements to

testing is not considered necessary. People who are at higher risk of vitamin D deficiency
(see above) should be treated anyway so again testing is not necessary.

+++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++

Immunisation
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

23
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)

The mother of a 6-week-old baby girl born at 32 weeks gestation asks for advice about
immunisation. What should happen regarding the first set of vaccines?>>> Give as per
normal timetable.

Vaccinations

Live attenuated vaccines

 BCG
 MMR
 oral polio
 yellow fever
 oral typhoid

It is important to be aware of vaccines which are of the live-attenuated type as these may
pose a risk to immunocompromised patients. The main types of vaccine are as follows:

Live attenuated

 BCG
 measles, mumps, rubella (MMR)
 influenza (intranasal)
 oral rotavirus
 oral polio
 yellow fever

24
  oral typhoid*

Inactivated preparations

 rabies
 influenza (intramuscular)

Detoxified exotoxins

 tetanus

Extracts of the organism/virus (sometimes termed fragment)**

 diphtheria
 pertussis ('acellular' vaccine)
 hepatitis B
 meningococcus, pneumococcus, haemophilus

Notes

 influenza: different types are available, including whole inactivated virus, split
virion (virus particles disrupted by detergent treatment) and sub-unit (mainly
haemagglutinin and neuraminidase)
 cholera: contains inactivated Inaba and Ogawa strains of Vibrio cholerae together
with recombinant B-subunit of the cholera toxin
 hepatitis B: contains HBsAg adsorbed onto aluminium hydroxide adjuvant and is
prepared from yeast cells using recombinant DNA technology

*whole cell typhoid vaccine is no longer used in the UK

**may also be produced using recombinant DNA technology

'Avoid live vaccinations until 12 months after bone marrow transplant'.

The Royal College of Paediatrics published guidance on 'Immunisation of the

Immunocompromised
Child Best Practice Statement'. They state that the following are general principles of the
management of children following allogenic haemopoietic stem cell transplantation:

Re-immunisation should commence:

25
  12 months after a HLA-identical sibling donor allogeneic or a syngeneic HSCT.
 18 months after any other allogeneic HSCT.

Providing that:

 There is no evidence of active chronic GVHD, and

 The child has been off all immunosuppressive treatment (eg steroids, cyclosporin A)
for at least 6 months (12 months before administering any live vaccines), and
 The child has been off IVIg for at least 3 months.

Immunisation schedule(UK)

Age Recommended immunizations

At birth BCG / hepatitis B vaccine if risk factors (see below)

2 months DTaP/IPV/Hib
PCV 
Oral rotavirus vaccine 
Men B

3 months DTaP/IPV/Hib
Men C 
Oral rotavirus vaccine

4 months DTaP/IPV/Hib
PCV 
Men B

12-13 months Hib/Men C

MMR
PCV 
Men B

2-3 years Flu vaccine (annual)

3-4 years MMR + DTaP/IPV

12-13 years HPV vaccination for girls

13-18 years DT/IPV

26
 Age Recommended immunizations

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). 
Hepatitis B vaccine should be given at birth if the mother is HBsAg +ve.

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'

Key

 DTaP = Diphtheria, Tetanus, acellular Pertussis vaccine

 IPV = Inactivated Polio Vaccine
 Hib = Haemophilus influenzae B vaccine
 PCV = Pneumococcal Conjugate Vaccine
 Men B = Meningococcal B vaccine
 Men C = Meningococcal C vaccine
 Men ACWY = Meningococcal vaccine covering A, C, W and Y serotypes
 MMR = Measles, Mumps, Rubella vaccine
 DT = Diphtheria, Tetanus vaccine
 HPV = Human Papilloma Vaccine

Immunisation: other aspects

The pertussis (whooping cough) vaccine is now offered to all pregnant women.

As well as providing extensive information relating to individual diseases and vaccines the
Greenbook also provides useful information on associated issues:

Consent

27
  written consent is not required
 for children not competent to give or withhold consent a person with parental
responsibility may give consent on their behalf
 parental responsibility is defined by the Children Act 1989. Mothers automatically
have parental responsibility. Fathers have responsibility if they are married to the
mother when the child was born or subsequently marry her. Unmarried fathers may
acquire parental responsibility by:
 1. Parental Responsibility Order granted by the court
 2. Residence Order granted by the court
 3. Parental Responsibility Agreement
 since 2003 unmarried fathers can acquire parental responsibility if they are named
on the child's birth certificate
 a step parent can can acquire parental responsibility if they marry the mother and
either get a Parental Responsibility Agreement or the court grants a Parental
Responsibility Order
 if parents disagree then immunisation cannot go ahead without specific court
approval
 a person with parental responsibility does not need to be present at the time of
immunisation. A grandparent or childminder, for example, may bring the child
provided that the healthcare provider is satisfied that the person with parental
responsibility has consented in advance. Written confirmation is not required.

Vaccine storage

 generally should be stored in the a fridge at +2ºC to +8ºC and kept in original

packaging to protect the vaccine from UV light
 refrigerator temperature should be monitored using a maximum-minimum
thermometer and recorded daily
 ordinary domestic refrigerators should not be used
 surgeries should keep no more than 2 to 4 weeks' supply of vaccines at any time

MMR vaccine

Children in the UK receive two doses of the Measles, Mumps and Rubella (MMR) vaccine
before entry to primary school. This currently occurs at 12-15 months and 3-4 years as
part of the routine immunisation schedule

Contraindications to MMR

 severe immunosuppression
 allergy to neomycin
 children who have received another live vaccine by injection within 4 weeks
 pregnancy should be avoided for at least 1 month following vaccination

28
  immunoglobulin therapy within the past 3 months (there may be no immune
response to the measles vaccine if antibodies are present)

Adverse effects

 malaise, fever and rash may occur after the first dose of MMR. This typically occurs
after 5-10 days and lasts around 2-3 days

The Green Book recommends allowing 3 months between doses to maximise the response
rate. A period of 1 month is considered adequate if the child is greater than 10 years of age.
In an urgent situation (e.g. An outbreak at the child's school) then a shorter period of 1
month can be used in younger children.

Tetanus: vaccination

The tetanus vaccine is a cell-free purified toxin that is normally given as part of a combined
vaccine.
Tetanus vaccine is currently given in the UK as part of the routine immunisation schedule
at:

 2 months
 3 months
 4 months
 3-5 years
 13-18 years

This therefore provides 5 doses of tetanus-containing vaccine. Five doses is now

considered to provide adequate long-term protection against tetanus.
Intramuscular human tetanus immunoglobulin should be given to patients with high-risk
wounds (e.g. Compound fractures, delayed surgical intervention, significant degree of
devitalised tissue) irrespective of whether 5 doses of tetanus vaccine have previously been
given
If vaccination history is incomplete or unknown then a dose of tetanus vaccine should be
given combined with intramuscular human tetanus immunoglobulin for high-risk wounds

BCG vaccine

It is important that a tuberculin skin test is performed (to exclude past exposure to
tuberculosis) prior to giving the vaccine.
The Bacille Calmette-Guérin (BCG) vaccine offers limited protection against tuberculosis
(TB). In the UK it is given to high-risk infants. Until 2005 it was also routinely given to
children at the age of 13 years. 

29
The Greenbook currently advises that the vaccine is administered to the following
groups :

 all infants (aged 0 to 12 months) living in areas of the UK where the annual
incidence of TB is 40/100,000 or greater
 all infants (aged 0 to 12 months) with a parent or grandparent who was born in a
country where the annual incidence of TB is 40/100,000 or greater. The same
applies to older children but if they are 6 years old or older they require a tuberculin
skin test first
 previously unvaccinated tuberculin-negative contacts of cases of respiratory TB
 previously unvaccinated, tuberculin-negative new entrants under 16 years of age
who were born in or who have lived for a prolonged period (at least three months)
in a country with an annual TB incidence of 40/100,000 or greater
 healthcare workers
 prison staff
 staff of care home for the elderly
 those who work with homeless people

The vaccine contains live attenuated Mycobacterium bovis. It also offers limited protection
against leprosy.

Administration

 any person being considered for the BCG vaccine must first be given a tuberculin
skin test. The only exceptions are children < 6 years old who have had no contact
with tuberculosis
 given intradermally, normally to the lateral aspect of the left upper arm
 BCG can be given at the same time as other live vaccines, but if not administered
simultaneously there should be a 4 week interval

Contraindications

 previous BCG vaccination

 a past history of tuberculosis
 HIV
 pregnancy
 positive tuberculin test (Heaf or Mantoux)

Meningitis B vaccine

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)

30
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.

Meningitis B is currently the most common cause of meningococcal disease in children the
UK. The Meningitis B vaccination was introduced to the NHS routine childhood
immunisation schedule in 2015. It is given at 2, 4, and 12 months of age, alongside the
other immunisations in the schedule. If given outside of the schedule, doses should be at
least 2 months apart. When given in children over the age of one, only two doses are
required.

Fever of over 38 degrees is very common with the Meningitis B vaccine, and it is advised
that infants should receive three doses of paracetamol routinely to prevent it developing;
the first dose given as soon as possible post-vaccination. If required, parents should be
advised to continue giving paracetamol 4-6 hourly QDS up to 48 hours post-vaccination.
Paracetamol is not thought to impair the immunogenicity of the vaccine. 

Rotavirus vaccine

The oral rotavirus vaccine offers lifelong protection

The first dose of the oral rotavirus vaccine should not be given after 15 weeks

Rotavirus is a major public health problem, accounting for significant morbidity and
hospital admissions in the developed world and childhood mortality in the developing
world.
A vaccine was introduced into the NHS immunisation programme in 2013. The key points
to remember as as follows:

 it is an oral, live attenuated vaccine

 2 doses are required, the first at 2 months, the second at 3 months
 the first dose should not be given after 14 weeks + 6 days and the second dose
cannot be given after 23 weeks + 6 days due to a theoretical risk of intussusception

31
Other points

 the vaccine is around 85-90% effective and is predicted to decrease hospitalisation

by 70%
 offers long-term protection against rotavirus

Influenza vaccination

The intranasal flu vaccine cannot be given to children < 2 years

Children who currently are given the intramuscular flu vaccine (e.g. for asthma) should
switch to the intranasal vaccine, unless they are immunosuppressed.

The DTP vaccination, rather than the intranasal influenza vaccine, should be deferred in
children with an evolving or unstable neurological condition.
Seasonal influenza still accounts for a significant morbidity and mortality in the UK each
winter, with the influenza season typically starting in the middle of November. This may
vary year from year so it is recommended that vaccination occurs between September and
early November. There are three types of influenza virus; A, B and C. Types A and B account
for the majority of clinical disease. 
Prior to 2013 flu vaccination was only offered to the elderly and at risk groups.

Remember that the type of vaccine given routinely to children and the one given to
the elderly and at risk groups is different (live vs. inactivated) - this explains the
different contraindications

Children
A new NHS influenza vaccination programme for children was announced in 2013. There
are three key things to remember about the children's vaccine:

 it is given intranasally
 the first dose is given at 2-3 years, then annually after that
 it is a live vaccine (cf. injectable vaccine below)

Some other points

32
  children who were traditionally offered the flu vaccine (e.g. asthmatics) will now be
given intranasal vaccine unless this is inappropriate, for example if they are
immunosuppressed. In this situation the inactivated, injectable vaccine should be
given
 only children aged 2-9 years who have not received an influenza vaccine before
need 2 doses
 it is more effective than the injectable vaccine

Contraindications of Live Intranasal Vaccine :

 immunocompromised
 aged < 2 years
 current febrile illness or blocked nose/rhinorrhoea
 current wheeze (e.g. ongoing viral-induced wheeze/asthma) or history of severe
asthma (BTS step 4)
 egg allergy
 pregnancy/breastfeeding
 if the child is taking aspirin (e.g. for Kawasaki disease) due to a risk of Reye's
syndrome

Side-effects

 blocked-nose/rhinorrhoea
 headache
 anorexia

Adults and at-risk groups

Current vaccines are trivalent and consist of two subtypes of influenza A and one subtype
of influenza B.
The Department of Health recommends annual influenza vaccination for all people older
than 65 years, and those older than 6 months if they have:

 chronic respiratory disease (including asthmatics who use inhaled steroids)

 chronic heart disease (heart failure, ischaemic heart disease, including hypertension
if associated with cardiac complications)
 chronic kidney disease
 chronic liver disease: cirrhosis, biliary atresia, chronic hepatitis
 chronic neurological disease: (e.g. Stroke/TIAs)
 diabetes mellitus (including diet controlled)
 immunosuppression due to disease or treatment (e.g. HIV)
 asplenia or splenic dysfunction
 pregnant women

33
Other at risk individuals include:

 health and social care staff directly involved in patient care (e.g. NHS staff)
 those living in long-stay residential care homes
 carers of the elderly or disabled person whose welfare may be at risk if the carer
becomes ill (at the GP's discretion)

The influenza vaccine

 it is an inactivated vaccine, so cannot cause influenza. A minority of patients

however develop fever and malaise which may last 1-2 days
 should be stored between +2 and +8ºC and shielded from light
 contraindications include hypersensitivity to egg protein.
 in adults the vaccination is around 75% effective, although this figure decreases in
the elderly
 it takes around 10-14 days after immunisation before antibody levels are at
protective levels

Annual influenza vaccination is being rolled out to children; at time of writing in winter
2015, it was offered to children aged 2, 3, and 4, and children in years 1 and 2 of school. It is
likely to be rolled out to all children, annually, in future. The vaccine is different to the
inactivated injectable vaccine given to adults. It is a live attenuated vaccine given by nasal
spray. It commonly causes nasal congestion and rhinorrhoea and can also cause epistaxis. It
contains porcine gelatine so may not be acceptable to certain religious groups.

+++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++

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

34
 Infection Features

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 Also known as fifth disease or 'slapped-cheek syndrome'

infectiosum 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 face

Hand, foot and Caused by the coxsackie A16 virus

mouth disease Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet

Scarlet fever

Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic

streptococci (usuallyStreptococcus pyogenes). It is more common in children aged 2 - 6
years with the peak incidence being at 4 years.

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

 fever
 malaise
 tonsillitis
 'strawberry' tongue
 rash - fine punctate erythema ('pinhead') which generally appears first on the torso
and spares the face although children often have a flushed appearance with perioral
pallor. The rash often has a rough 'sandpaper' texture. Desquamination occurs later
in the course of the illness, particularly around the fingers and toes

35
Diagnosis

 a throat swab is normally taken but antibiotic treatment should be commenced

immediately, rather than waiting for the results

Management

 oral penicillin V
 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

Complications

 otitis media: the most common complication

 rheumatic fever: typically occurs 20 days after infection
 acute glomerulonephritis: typically occurs 10 days after infection

36
Rubella

37
Erythema infectiosum

Mumps

38
Chickenpox

Dilated cardiomyopathy is not an established complication of chickenpox, unlike

Disseminated haemorrhagic chickenpox , Secondary bacterial infection , Encephalitis , and
pneumonia .
'People who have had a significant exposure to chickenpox and who are
immunocompromised should be tested for varicella-zoster antibody, regardless of
their history of chickenpox. Test for varicella-zoster immunoglobulin G (IgG)
antibodies in primary care if test results can be available within 2 working days of
first exposure. If this is not possible, urgently seek specialist advice because testing
in secondary care and/or varicella-zoster immunoglobulin prophylaxis may be
needed.'

Chickenpox school exclusion - 5 days after skin lesions first appeared

Chickenpox is caused by primary infection with varicella zoster virus. Shingles is

reactivation of 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

39
Management is supportive

 keep cool, trim nails

 calamine lotion
 school exclusion: current HPA advice is 5 days from start of skin eruption. They also
state 'Traditionally children have been excluded until all lesions are crusted.
However, transmission has never been reported beyond the fifth day 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. Rare

complications include

 pneumonia
 encephalitis (cerebellar involvement may be seen)
 disseminated haemorrhagic chickenpox
 arthritis, nephritis and pancreatitis may very rarely be seen

Chest x-ray showing miliary opacities secondary to healed varicella pneumonia. Multiple
tiny calcific miliary opacities noted throughout both lungs. These are of uniform size and
dense suggesting calcification. There is no focal lung parenchymal mass or cavitating lesion
seen.The appearances are characteristic for healed varicella pneumonia.

*it was traditionally taught that patients were infective until all lesions had scabbed over

40
In some countries such as the USA, children routinely receive vaccination against varicella.
The NHS does not offer routine vaccination for two main reasons. Firstly, chickenpox is
generally a mild disease in childhood, but if the disease were to stop circulating as widely
in childhood, it would leave unvaccinated people vulnerable to the infection in adulthood,
when it can be much more severe. Secondly, it could increase the incidence of shingles
because adults would not have their immunity to the virus boosted by exposure to
chickenpox cases.
The vaccine may be given to carers and close contacts of people for whom catching
chickenpox could be dangerous eg. the immunosuppressed. This includes healthcare
workers. It is not required if the carer/contact has already had chickenpox.

Chickenpox exposure in pregnancy

Sensorineural deafness is more characteristic of congenital rubella infection

Chickenpox is caused by primary infection with varicella zoster virus. Shingles is

reactivation of dormant virus in dorsal root ganglion. In pregnancy there is a risk to both
the mother and also the fetus, a syndrome now termed fetal varicella syndrome

Risks to the mother

 5 times greater risk of pneumonitis

Fetal varicella syndrome (FVS)

 risk of FVS following maternal varicella exposure is around 1% if occurs before 20

weeks gestation
 studies have shown a very small number of cases occurring between 20-28 weeks
gestation and none following 28 weeks

41
  features of FVS include skin scarring, eye defects (microphthalmia), limb hypoplasia,
microcephaly and learning disabilities

Other risks to the fetus

 shingles in infancy: 1-2% risk if maternal exposure in the second or third trimester
 severe neonatal varicella: if mother develops rash between 5 days before and 2 days
after birth there is a risk of neonatal varicella, which may be fatal to the newborn
child in around 20% of cases

Management of chickenpox exposure

 if there is any doubt about the mother previously having chickenpox maternal blood
should be urgently checked for varicella antibodies
 if the pregnant women is not immune to varicella she should be given varicella
zoster immunoglobulin (VZIG) as soon as possible. RCOG and Greenbook guidelines
suggest VZIG is effective up to 10 days post exposure
 consensus guidelines suggest oral aciclovir should be given if pregnant women with
chickenpox present within 24 hours of onset of the rash

Measles

Subacute sclerosing panencephalitis is seen but develops 5-10 years following the illness.
Pancreatitis and infertility may follow mumps infection

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

42
  rash: starts behind ears then to whole body, discrete maculopapular rash becoming
blotchy & confluent

Koplik spots

Complications

 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
 giant cell pneumonia
 keratoconjunctivitis, corneal ulceration

43
  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

Roseola infantum

Roseola infantum - fever followed later by rash

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 by a

 maculopapular rash
 febrile convulsions occur in around 10-15%
 diarrhoea and cough are also commonly seen

Other possible consequences of HHV6 infection

 aseptic meningitis
 hepatitis

44
Diphtheria

Diphtheria is caused by the Gram positive bacterium Corynebacterium diphtheriae 

Pathophysiology

 releases an exotoxin encoded by a β-prophage

 exotoxin inhibits protein synthesis by catalyzing ADP-ribosylation of elongation
factor EF-2

Diphtheria toxin commonly causes a 'diphtheric membrane' on tonsils caused by necrotic

mucosal cells. Systemic distribution may produce necrosis of myocardial, neural and renal
tissue

Possible presentations

 recent visitors to Eastern Europe/Russia/Asia

 sore throat with a 'diphtheric membrane' - see above
 bulky cervical lymphadenopathy
 neuritis e.g. cranial nerves
 heart block

45
Hand, foot and mouth disease

In hand, foot and mouth disease oral lesion usually occur before palm and sole lesions
Hand, foot and mouth disease is a viral infection that commonly affects children under 10
years. The symptoms are fever, anorexia, cough, abdominal pain and sore throat. Mouth
ulcers commonly follow with a rash that classically affects hands and feet but also face,
buttocks, legs and genitals. It is generally a benign self-resolving condition treated with
simple analgesia.

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

46
Management

 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.

Meningococcal septicaemia

Meningococcal septicaemia is a frightening condition for patients, parents and doctors. It is

associated with a high morbidity and mortality unless treated early - meningococcal
disease is the leading infectious cause of death in early childhood. A high index of suspicion
is therefore needed. Much of the following is based on the 2010 NICE guidelines (please see
link).

Presentation of meningococcal disease:

 15% - meningitis
 25% - septicaemia
 60% - a combination of meningitis and septicaemia

NICE divide the features of meningococcal septicaemia into:

 common non-specific symptoms/signs e.g. fever, vomiting, lethargy

 less common non-specific symptoms/signs e.g. Chills, shivering

47
  more specific symptoms/signs e.g. Non-blanching rash, altered mental state,
capillary refill time more than 2 seconds, unusual skin colour, shock, hypotension,
leg pain, cold hands/feet

Whilst the typical non-blanching rash (petechial or purpuric) develops in over 80% of
patients with meningococcal septicaemia it is important to be aware of other
symptoms/signs. A high temperature can be seen with any childhood illness and is non-
specific. Neck stiffness, photophobia and a bulging fontanelle suggest meninigits rather
than septicaemia. Of course you would not be able to assess the fontanelle in a patient of
this age anyway. Please see the link for a comprehensive list of symptoms/signs.

Management if suspected meningococcal septicaemia

 give intramuscular or intravenous benzylpenicillin unless there is a history of

anaphylaxis (do not give if this will delay hospital transfer)
 NICE recommend phoning 999

Withhold benzylpenicillin only in children and young people who have a clear history of
anaphylaxis after a previous dose; a history of a rash following penicillin is not a
contraindication.

Your next patient is a 2-year-old boy. His mother is very concerned as he has had a high
temperature all day and is not taking fluids. On review he is drowsy with a toxic
appearance but no rash is seen. Which one of the following features is most supportive of a
diagnosis of meningococcal septicaemia? >>> Cold peripheries

Meningitis: management

Investigations suggested by NICE

 full blood count

 CRP

48
  coagulation screen
 blood culture
 whole-blood PCR
 blood glucose
 blood gas

Lumbar puncture if no signs of raised intracranial pressure

Management

All patients should be transferred to hospital urgently. If patients are in a pre-hospital

setting (for example a GP surgery) and meningococcal disease is suspected then
intramuscular benzylpenicillin may be given, as long as this doesn't delay transit to
hospital.

BNF recommendations on antibiotics

Scenario BNF recommendation

Initial empirical therapy aged < 3 months Intravenous cefotaxime + amoxicillin

Initial empirical therapy aged 3 months - 50 Intravenous cefotaxime

years

Initial empirical therapy aged > 50 years Intravenous cefotaxime + amoxicillin

Meningococcal meningitis Intravenous benzylpenicillin or

cefotaxime

Pneuomococcal meningitis Intravenous cefotaxime

Meningitis caused by Haemophilus influenzae Intravenous cefotaxime

Meningitis caused by Listeria Intravenous amoxicillin + gentamicin

49
If the patient has a history of immediate hypersensitivity reaction to penicillin or to
cephalosporins the BNF recommends using chloramphenicol.

Management of contacts

 prophylaxis needs to be offered to household and close contacts of patients affected

with meningococcal meningitis
 oral ciprofloxacin or rifampicin or may be used. The Health Protection Agency
(HPA) guidelines now state that whilst either may be used ciprofloxacin is the drug
of choice as it is widely available and only requires one dose
 the risk is highest in the first 7 days but persists for at least 4 weeks
 meningococcal vaccination should be offered to close contacts when serotype
results are available, including booster doses to those who had the vaccine in
infancy
 for pneumococcal meninigitis no prophylaxis is generally needed. There are
however exceptions to this. If a cluster of cases of pneumococcal meninigitis occur
the HPA have a protocol for offering close contacts antibiotic prophylaxis. Please see
the link for more details

Congenital infections

Congenital rubella

 sensorineural deafness
 congenital cataract

Congenital toxoplasmosis

 cerebral calcification
 chorioretinitis

A form of 'salt and pepper' chorioretinitis is also seen in congenital rubella but this is not a
common feature.
Chorioretinitis is found in around 75% of patients with congenital toxoplasmosis.

The major congenital infections encountered in examinations are rubella, toxoplasmosis

and cytomegalovirus
Cytomegalovirus is the most common congenital infection in the UK. Maternal infection is
usually asymptomatic

50
 Rubella Toxoplasmosis Cytomegalovirus

Characteristic Sensorineural deafness Cerebral Growth retardation

features Congenital cataracts calcification Purpuric skin lesions
Congenital heart disease Chorioretinitis
(e.g. patent ductus Hydrocephalus
arteriosus)
Glaucoma

Other features Growth retardation Anaemia Sensorineural

Hepatosplenomegaly Hepatosplenomegaly deafness
Purpuric skin lesions Cerebral palsy Encephalitis/seizures
'Salt and pepper' Pneumonitis
chorioretinitis Hepatosplenomegaly
Microphthalmia Anaemia
Cerebral palsy Jaundice
Cerebral palsy

Kawasaki disease

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*

51
  intravenous immunoglobulin
 echocardiogram (rather than angiography) is used as the initial screening test for
coronary artery aneurysms

Complications

 coronary artery aneurysm

*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.

52
School exclusion

Advice Condition(s)

No exclusion Conjunctivitis
Fifth disease
Roseola
Infectious mononucleosis
Head lice
Threadworms

24 hours after commencing antibiotics Scarlet fever

Four days from onset of rash Measles

53
Advice Condition(s)

Five days from onset of rash Chickenpox

Five days from onset of swollen glands Mumps

Five days after commencing antibiotics Whooping cough

Six days from onset of rash Rubella

Until symptoms have settled for 48 hours Diarrhoea & vomiting

Until lesions have crusted over Impetigo

Until treated Scabies

Until recovered Influenza

+++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++

Cardiac
Congenital heart disease: types

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

54
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
 pulmonary valve stenosis

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.

Tetralogy of Fallot

55
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

The severity of the right ventricular outflow tract obstruction determines the degree of
cyanosis and clinical severity

Other features

 cyanosis
 causes a right-to-left shunt
 ejection systolic murmur due to pulmonary stenosis (the VSD doesn't usually cause
a murmur)
 a right-sided aortic arch is seen in 25% of patients
 chest x-ray shows a 'boot-shaped' heart, ECG shows right ventricular hypertrophy

Management

56
  surgical repair is often undertaken in two parts
 cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm

*however, at birth transposition of the great arteries is the more common lesion as patients
with TOF generally present at around 1-2 months

A 2-day-old baby girl is noted to become cyanotic whilst feeding and crying. A diagnosis of
congenital heart disease is suspected. What is the most likely cause?

Congenital heart disease

 cyanotic: TGA most common at birth, Fallot's most common overall

 acyanotic: VSD most common cause

The key point to this question is that whilst tetralogy of Fallot is more common than
transposition of the great arteries (TGA), Fallot's doesn't usually present until 1-2 months
following the identification of a murmur. In the neonate, TGA is the most common
presenting cause of cyanotic congenital heart disease.

Innocent murmurs

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 Low-pitched sound heard at the lower left sternal edge

murmur

57
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

Rheumatic fever: criteria

Rheumatic fever develops following an immunological reaction to recent (2-6 weeks

ago)Streptococcus pyogenes infection. Diagnosis is based on evidence of recent
streptococcal infection accompanied by:

 2 major criteria
 1 major with 2 minor criteria

Evidence of recent streptococcal infection

 ASOT > 200iu/mL

 history of scarlet fever
 positive throat swab
 increase in DNase B titre

Major criteria

 erythema marginatum
 Sydenham's chorea
 polyarthritis
 carditis (endo-, myo- or peri-)
 subcutaneous nodules

Minor criteria

 raised ESR or CRP

 pyrexia

58
  arthralgia (not if arthritis a major criteria)
 prolonged PR interval

Erythema marginatum is seen in around 10% of children with rheumatic fever. It is rare in
adults

++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++++

Ear
Hearing problems in children

Tuberous sclerosis is not commonly associated with hearing problems in children

59
The most common causes of hearing problems in children are listed below

Conductive

 secretory otitis media

 Down's syndrome*

Sensorineural

 hereditary - Usher syndrome, Pendred syndrome, Jervell-Lange-Nielson syndrome,

Wardenburg syndrome
 congenital infection e.g. rubella
 acquired - meningitis, head injury
 cerebral palsy
 perinatal insult

*may have elements of sensorineural loss as well

Hearing testing in children

Age Test Comments

Newborn Otoacoustic All newborns should be tested as part of the Newborn

emission test Hearing Screening Programme. A computer generated
click is played through a small earpiece. The presence
of a soft echo indicates a healthy cochlea

Newborn & Auditory May be done if otoacoustic emission test is abnormal

infants Brainstem
Response test

6-9 months Distraction test Performed by health visitor, requires two trained staff

18 months - Recognition of Uses familiar objects e.g. teddy, cup. Ask child simple

60
 Age Test Comments

2.5 years familiar objects questions - e.g. 'where is the teddy?'

> 2.5 years Performance -

testing

> 2.5 years Speech Uses similar sounding objects e.g. Kendall Toy test,
discrimination McCormick Toy Test
tests

> 3 years Pure tone Done at school entry in most areas of the UK
audiometry

As well as the above test there is a questionnaire for parents in the Personal Child Health
Records - 'Can your baby hear you?'

Glue ear

Glue ear describes otitis media with an effusion (other terms include serous otitis media).
It is common with the majority of children having at least one episode during childhood

Risk factors

 male sex
 siblings with glue ear
 higher incidence in Winter and Spring
 bottle feeding
 day care attendance
 parental smoking

Features

 peaks at 2 years of age

 hearing loss is usually the presenting feature (glue ear is the commonest cause of
conductive hearing loss and elective surgery in childhood)
 secondary problems such as speech and language delay, behavioural or balance
problems may also be seen

Treatment options include:

61
  grommet insertion - to allow air to pass through into the middle ear and hence do
the job normally done by the Eustachian tube. The majority stop functioning after
about 10 months
 adenoidectomy

Tonsillitis and tonsillectomy

Complications of tonsillitis include:

 otitis media
 quinsy - peritonsillar abscess
 rheumatic fever and glomerulonephritis very rarely

The indications for tonsillectomy are controversial. NICE recommend that surgery
should be considered only if the person meets all of the following criteria

 sore throats are due to tonsillitis (i.e. not recurrent upper respiratory tract
infections)
 the person has five or more episodes of sore throat per year
 symptoms have been occurring for at least a year
 the episodes of sore throat are disabling and prevent normal functioning

Other established indications for a tonsillectomy include

 recurrent febrile convulsions secondary to episodes of tonsillitis

 obstructive sleep apnoea, stridor or dysphagia secondary to enlarged tonsils
 peritonsillar abscess (quinsy) if unresponsive to standard treatment

Complications of tonsillectomy

 primary (< 24 hours): haemorrhage in 2-3% (most commonly due to inadequate

haemostasis), pain

62
  secondary (24 hours to 10 days): haemorrhage (most commonly due to infection),
pain

The correct answer is 'Needs 5 or more bouts of acute tonsillitis in each of the preceding 2
years'. 
Guidance on the criteria for adenotonsillectomy in recurrent tonsillitis have been produced
by SIGN. These suggest:
The following are recommended as indications for consideration of adenotonsillectomy for
recurrent acute sore throat in both children and adults:

 Sore throats are due to acute tonsillitis

 The episodes of sore throat are disabling and prevent normal functioning
 Seven or more well documented, clinically significant, adequately treated sore
throats in the preceding year OR
 Five or more such episodes in each of the preceding two years OR
 Three or more such episodes in each of the preceding three years

With reference to the above case Jodie has suffered with acute tonsillitis over the past 2
years with 3 and 4 bouts respectively. Given that the minimum according to SIGN is of 5
episodes over the past 2 years she would not fulfill the criteria.

Snoring in children

Kallman's syndrome is a cause of delayed puberty secondary to hypogonadotrophic

hypogonadism. It is not associated with snoring

Causes

 obesity
 nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
 recurrent tonsillitis
 Down's syndrome
 hypothyroidism

Feverish illness in children :

Grunting is a 'red sign', needing an urgent assessment by a healthcare professional in a

face-to-face setting within 2 hours

63
The 2007 NICE Feverish illness in children guidelines introduced a 'traffic light' system for
risk stratification of children under the age of 5 years presenting with a fever. These
guidelines were later modified in a 2013 update.

It should be noted that these guidelines only apply 'until a clinical diagnosis of the
underlying condition has been made'. A link to the guidelines is provided but some key
points are listed below. 

Assessment

The following should be recorded in all febrile children:

 temperature
 heart rate
 respiratory rate
 capillary refill time

Signs of dehydration (reduced skin turgor, cool extremities etc) should also be looked for

Measuring temperature should be done with an electronic thermometer in the axilla if the
child is < 4 weeks or with an electronic/chemical dot thermometer in the axilla or an infra-
red tympanic thermometer.

Risk stratification
Green - low risk Amber - intermediate risk Red - high risk

Colour • Normal colour • Pallor reported by •

parent/carer Pale/mottled/ashen/b
lue

Activity • Responds • Not responding • No response to social

normally to normally to social cues cues
social cues • No smile • Appears ill to a
• Content/smiles • Wakes only with healthcare
• Stays awake or prolonged stimulation professional
awakens quickly • Decreased activity • Does not wake or if
• Strong normal roused does not stay

64
 Green - low risk Amber - intermediate risk Red - high risk

cry/not crying awake

• Weak, high-pitched
or continuous cry

Respiratory • Nasal flaring • Grunting

• Tachypnoea: • Tachypnoea:
respiratory rate respiratory rate >60
breaths/minute
 >50 • Moderate or severe
breaths/minute, chest indrawing
age 6-12 months;
 >40
breaths/minute,
age >12 months

• Oxygen saturation
<=95% in air
• Crackles in the chest

Circulation • Normal skin • Tachycardia: • Reduced skin turgor

and and eyes
hydration • Moist mucous  >160
membranes beats/minute, age
<12 months
 >150
beats/minute, age
12-24 months
 >140
beats/minute, age
2-5 years

• Capillary refill time >=3

seconds
• Dry mucous membranes
• Poor feeding in infants
• Reduced urine output

Other No amber or red • Age 3-6 months, • Age <3 months,

signs temperature >=39ºC temperature • >=38°C
• Fever for >=5 days • Non-blanching rash
• Rigors • Bulging fontanelle
• Swelling of a limb or • Neck stiffness
joint • Status epilepticus
• Non-weight bearing • Focal neurological
limb/not using an signs
extremity • Focal seizures

Management

65
If green:

 Child can be managed at home with appropriate care advice, including when to seek
further help

If amber:

 provide parents with a safety net or refer to a paediatric specialist for further
assessment
 a safety net includes verbal or written information on warning symptoms and how
further healthcare can be accessed, a follow-up appointment, liaison with other
healthcare professionals, e.g. out-of-hours providers, for further follow-up

If red:

 refer child urgently to a paediatric specialist

Other key points include

 oral antibiotics should not be prescribed to children with fever without apparent
source
 if a pneumonia is suspected but the child is not going to be referred to hospital then
a chest x-ray does not need to be routinely performed.

Febrile convulsions

Antipyretics do not prevent febrile convulsions

Febrile convulsions - risk of further convulsions = 30%

There is no evidence that giving a pyrexial child antipyretics reduces the chance of a febrile
convulsion

Febrile convulsions are seizures provoked by fever in otherwise normal children. They
typically occur between the ages of 6 months and 5 years and are seen in 3% of children

66
Clinical features

 usually occur early in a viral infection as the temperature rises rapidly

 seizures are usually brief, lasting less than 5 minutes
 may be generalised tonic or tonic-clonic

Prognosis

 risk of further febrile convulsion = 1/3 (higher if family history)

 if recurrences, try teaching mother how to use rectal diazepam
 if no focal signs + lasts less than 30 minutes* + single seizure then 1% risk of
developing epilepsy
 in the <1% who have all these features, risk of developing epilepsy is much higher
(e.g. 50%)

*minutes not seconds, although some authorities use a cut-off of 15 minutes

Carers should place the child in the recovery position and dial 999 if the seizure lasts > 5
minutes

The immunisation schedule should continue and can be safely done in the community

Seizures: acute management

Most seizures are self-limiting and stop spontaneously but prolonged seizures may be
potentially life-threatening.

Basics

 check the airway and apply oxygen if appropriate

 place the patient in the recovery position
 if the seizure is prolonged give benzodiazepines

BNF recommend dose for rectal diazepam, repeated once after 10-15 minutes if necessary

Neonate 1.25 - 2.5 mg

Child 1 month - 2 years 5 mg

Child 2 years - 12 years 5 - 10 mg

67
Neonate 1.25 - 2.5 mg

Child 12 years - 18 years 10 mg

Adult 10 - 20 mg (max. 30 mg)

Elderly 10 mg (max. 15 mg)

Renal

Nephrotic syndrome in children

Nephrotic syndrome is classically defined as a triad of

 proteinuria (> 1 g/m^2 per 24 hours)

 hypoalbuminaemia (< 25 g/l)
 oedema

In children the peak incidence is between 2 and 5 years of age. Around 80% of cases in
children are due to a condition called minimal change glomerulonephritis. The condition
generally carries a good prognosis with around 90% of cases responding to high-dose oral
steroids.
Other features include hyperlipidaemia, a hypercoagulable state (due to loss of
antithrombin III) and a predisposition to infection (due to loss of immunoglobulins).
Minimal change glomerulonephritis nearly always presents as nephrotic syndrome,
accounting for 80% of cases in children and 25% in adults. The majority of cases are
idiopathic and respond well to steroids.

68
Minimal change disease

As 1/3 of patients have infrequent relapses and 1/3 of patients have frequent relapses a
majority (2/3) will have later recurrent episodes. It is important however to stress to
patients that generally speaking the longer term prognosis in minimal change
glomerulonephritis is good.

A renal biopsy is only indicated if response to steroids is poor

Minimal change disease nearly always presents as nephrotic syndrome, accounting for
75% of cases in children and 25% in adults.

The majority of cases are idiopathic, but in around 10-20% a cause is found:

 drugs: NSAIDs, rifampicin

 Hodgkin's lymphoma, thymoma
 infectious mononucleosis

Pathophysiology

 T-cell and cytokine mediated damage to the glomerular basement membrane →

polyanion loss
 the resultant reduction of electrostatic charge → increased glomerular permeability
to serum albumin

69
Features

 nephrotic syndrome
 normotension - hypertension is rare
 highly selective proteinuria*
 renal biopsy: electron microscopy shows fusion of podocytes

Management

 majority of cases (80%) are steroid responsive

 cyclophosphamide is the next step for steroid resistant cases

Prognosis is overall good, although relapse is common. Roughly:

 1/3 have just one episode

 1/3 have infrequent relapses
 1/3 have frequent relapses which stop before adulthood

*only intermediate-sized proteins such as albumin and transferrin leak through the
glomerulus
Urinary tract infection in children: features, diagnosis and management

Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more
congenital abnormalities) after which the incidence is substantially higher in girls. At least
8% of girls and 2% of boys will have a UTI in childhood

Presentation in childhood depends on age:

 infants: poor feeding, vomiting, irritability

 younger children: abdominal pain, fever, dysuria
 older children: dysuria, frequency, haematuria
 features which may suggest an upper UTI include: temperature > 38ºC, loin
pain/tenderness

NICE guidelines for checking urine sample in a child

 if there are any symptoms or signs suggestive or a UTI

 with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
 with an alternative site of infection but who remain unwell (consider urine test after
24 hours at the latest)
70
Urine collection method

 clean catch is preferable

 if not possible then urine collection pads should be used
 cotton wool balls, gauze and sanitary towels are not suitable
 invasive methods such as suprapubic aspiration should only be used if non-invasive
methods are not possible

Management

 infants less than 3 months old should be referred immediately to a paediatrician

 children aged more than 3 months old with an upper UTI should be considered for
admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-
amoxiclav should be given for 7-10 days
 children aged more than 3 months old with a lower UTI should be treated with oral
antibiotics for 3 days according to local guidelines, usually trimethoprim,
nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the
children back if they remain unwell after 24-48 hours
 antibiotic prophylaxis is not given after the first UTI but should be considered with
recurrent UTIs

The distinction between an upper and lower urinary tract infection is important here, as
the antibiotic choice and duration of treatment differs. NICE advise the following: 

If urinary tract infection (UTI) has been confirmed with a urine test, localising symptoms
can be used to guide treatment in primary care.

Make a working diagnosis of upper UTI (acute pyelonephritis) if there is:

 Fever of greater than 38°C (or history of fever) and bacteriuria, or

 Fever of less than 38°C (and no history of fever), loin tenderness, and bacteriuria.

Otherwise, diagnose lower UTI (cystitis), which may present with:

 Specific symptoms (frequency, dysuria, lower abdominal pain) usual in older

children, or with
 Non specific symptoms common in younger children and infants.

Aside from this, a clinician may be tempted to treat for 5 or 7 days in a young child with
confirmed UTI, simply because of their age. There are clear guidelines on this in the cBNF.
The following is taken from the cBNF section on urinary tract infections:

71
Urinary-tract infection is more common in adolescent girls than in boys; when it occurs in
adolescent boys there is frequently an underlying abnormality of the renal tract. Recurrent
episodes of infection are an indication for radiological investigation especially in children
in whom untreated pyelonephritis may lead to permanent kidney damage.

Escherichia coli is the most common cause of urinary-tract infection; Staphylococcus

saprophyticus is also common in sexually active young women. Less common causes
include Proteus and Klebsiella spp. Pseudomonas aeruginosa infections usually occur in the
hospital setting and may be associated with functional or anatomical abnormalities of the
renal tract. Staphylococcus epidermidis and Enterococcus faecalis infection may complicate
catheterisation or instrumentation.

A specimen of urine should be collected for culture and sensitivity testing before starting
antibacterial therapy;

 in children under 3 years of age;

 in children with suspected upper urinary-tract infection, complicated infection, or
recurrent infection;
 if resistant organisms are suspected;
 if urine dipstick testing gives a single positive result for leucocyte esterase or nitrite;
 if clinical symptoms are not consistent with results of dipstick testing;
 in pregnant women.

Treatment should not be delayed while waiting for results. The antibacterial chosen should
reflect current local bacterial sensitivity to antibacterials.

Urinary-tract infections in children require prompt antibacterial treatment to minimise the

risk of renal scarring. Uncomplicated lower urinary-tract infections in children over 3
months of age can be treated with trimethoprim, nitrofurantoin, a first generation
cephalosporin, or amoxicillin for 3 days; children should be reassessed if they continue to
be unwell 2448 hours after the initial assessment.

Acute pyelonephritis in children over 3 months of age can be treated with a first generation
cephalosporin or co-amoxiclav for 710 days. If the patient is severely ill, then the infection
is best treated initially by intravenous injection of a broad-spectrum antibacterial such as
cefotaxime or co-amoxiclav; gentamicin is an alternative.

Children under 3 months of age should be transferred to hospital and treated initially with
intravenous antibacterials such as ampicillin with gentamicin, or cefotaxime alone, until the
infection responds; full doses of oral antibacterials are then given for a further period.

For children aged over 3, NICE advise that dipstick testing for leukocyte esterase and
nitrite is as useful as microscopy and culture for diagnosis.

72
If leukocytes and nitrites are positive, the child should be treated as having UTI and
antibiotics should be prescribed. If a child has a high or intermediate risk of serious illness
and/or a past history of previous UTI, a urine sample should be sent for culture.

If leukocytes are negative but nitrites are positive, antibiotic treatment should be started if
the dipstick was carried out on a fresh sample of urine. A urine sample should be sent for
culture. Subsequent management will depend upon the result of urine culture.

If leukocytes are positive but nitrites are negative, a urine sample should be sent for
microscopy and culture.
Antibiotics for UTI should not be started unless there is good clinical evidence of UTI (for
example dysuria). Leukocyte esterase may be indicative of an infection outside the urinary
tract.
If the dipstick is negative, urine should not be sent for culture. Another cause for symptoms
should be sought.
Antibiotic prophylaxis should only be considered in children with recurrent UTI.
Bacteriuria in children without symptoms does not warrant antibiotics. 
Atypical UTI includes: seriously ill child, poor urine flow, abdominal or bladder mass,
raised creatinine, septicaemia, failure to respond to treatment with suitable antibiotics
within 48 hours and infection with non-E. coli organisms.

Urinary tract infection in children: investigation

Infection with Pseudomonas suggests an underlying structural abnormality and is one of

the 'atypical' features of a childhood urinary tract infection that is an indication of
uroimaging. NICE suggest that for atypical infections the ultrasound should be done during
the acute infection.

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

73
  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

In a child under 6 months with a UTI which responds well to antibiotics within 48 hours,
NICE recommend an ultrasound scan within 6 weeks. 
For an atypical UTI or recurrent UTI in an infant <6 months, ultrasound during acute
infection, DMSA 4-6 months following the acute infection and MCUG is advised. 

Atypical UTI includes:

 seriously ill
 poor urine flow
 abdominal or bladder mass
 elevated creatinine
 failure to respond to antibiotics within 48 hours
 non-E. coli organisms.

Recurrent UTI is defined by NICE as:

 two or more episodes of UTI with acute pyelonephritis/upper urinary tract infection
 one episode of UTI with acute pyelonephritis/upper urinary tract infection plus one
or more episode of UTI with cystitis/lower urinary tract infection
 three or more episodes of UTI with cystitis/lower urinary tract infection.

Hypertension in children

Measuring blood pressure in children

74
  correct cuff size is approximately 2/3 the length of the upper arm
 the 4th Korotkoff sound is used to measure the diastolic blood pressure until
adolescence, when the 5th Korotkoff sound can be used
 results should be compared with a graph of normal values for age

In younger children secondary hypertension is the most common cause, with renal
parenchymal disease accounting for up to 80%

Causes of hypertension in children

 renal parenchymal disease

 renal vascular disease
 coarctation of the aorta
 phaeochromocytoma
 congenital adrenal hyperplasia
 essential or primary hypertension (becomes more common as children become
older)

Wilms' tumour

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.

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)

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

Management

75
  nephrectomy
 chemotherapy
 radiotherapy if advanced disease
 prognosis: good, 80% cure rate

Histological features include epithelial tubules, areas of necrosis, immature glomerular

structures, stroma with spindle cells and small cell blastomatous tissues resembling the
metanephric blastema

Vesicoureteric reflux

Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the
ureter and kidney. It is relatively common abnormality of the urinary tract in children and
predisposes to urinary tract infection (UTI), being found in around 30% of children who
present with a UTI. As around 35% of children develop renal scarring it is important to
investigate for VUR in children following a UTI

Pathophysiology of VUR

 ureters are displaced laterally, entering the bladder in a more perpendicular fashion
than at an angle
 therefore shortened intramural course of ureter
 vesicoureteric junction cannot therefore function adequately

Grade

I Reflux into the ureter only, no dilatation

II Reflux into the renal pelvis on micturition, no dilatation

III Mild/moderate dilatation of the ureter, renal pelvis and calyces

IV Dilation of the renal pelvis and calyces with moderate ureteral tortuosity

76
 Grade

V Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity

Investigation

 VUR is normally diagnosed following a micturating cystourethrogram

 a DMSA scan may also be performed to look for renal scarring

Cough
Croup

Throat examination should be avoided as it may precipitate airway obstruction.

Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is
characterised by stridor which is caused by a combination of laryngeal oedema and
secretions. Parainfluenza viruses account for the majority of cases.

Epidemiology

 peak incidence at 6 months - 3 years

 more common in autumn

77
Features

 stridor
 barking cough (worse at night)
 fever
 coryzal symptoms

Clinical Knowledge Summaries (CKS) suggest using the following criteria to grade the
severity*:

Mild Moderate Severe

Occasional barking Frequent barking cough  Frequent barking cough

cough Easily audible stridor at Prominent inspiratory (and
No audible stridor at rest rest occasionally, expiratory) stridor
No or mild suprasternal Suprasternal and sternal at rest
and/or intercostal wall retraction at rest Marked sternal wall retractions
recession No or little distress or Significant distress and
The child is happy and is agitation agitation, or lethargy or
prepared to eat, drink, The child can be placated restlessness (a sign of
and play and is interested in its hypoxaemia)
surroundings Tachycardia occurs with more
severe obstructive symptoms
and hypoxaemia

CKS suggest admitting any child with moderate or severe croup. Other features
which should prompt admission include:

 < 6 months of age

 known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome)
 uncertainty about diagnosis (important differentials include acute epiglottitis,
bacterial tracheitis, peritonsillar abscess and foreign body inhalation)

Management

 CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all

children regardless of severity
 prednisolone is an alternative if dexamethasone is not available

Emergency treatment

78
  high-flow oxygen
 nebulised adrenaline
 Oral dexamethasone should also be given if the child is able to take it.

*these in turn are based partly on the Alberta Medical Association (2008) Guideline for the
diagnosis and management of croup.

Any child with mild, moderate or severe croup should be given 0.15mg/kg of
dexamethasone as a one off dose, or prednisolone 1-2mg/kg as an alternative. NICE
guidance on what to advise parents of a child with croup is detailed below. This is based on
available evidence and differs from the commonly held view that steam inhalation will help
the barking cough, in fact, we are actively advised not to recommend this, nor
decongestants. Antibiotics are not mentioned in the guidance, as croup is caused by a virus,
classically parainfluenza. There is also no mention of inhaled salbutamol.

What advice should I give to parents?

 Explain that croup is self limiting and symptoms usually resolve within 48 hours,
although occasionally they may last for up to a week. Resolution of croup symptoms
is usually followed by symptoms of upper respiratory tract infection.
 Advise the use of paracetamol or ibuprofen to control fever and pain:
 Do not over- or under-dress a child with fever.
 Tepid sponging is not recommended.
 Do not routinely give antipyretic drugs to a child with fever with the sole aim of
reducing body temperature.
 Ensure an adequate fluid intake.
 Do not advise humidified air (e.g. steam inhalation).
 Arrange to review the child within a few hours, either by face-to-face consultation or
by telephone.

Advise parents to seek urgent medical advice

 If there is progression from mild to moderate airways obstruction, such as

development of intermittent stridor at rest or increased effort of breathing (chest
and suprasternal indrawing), as the child may need to be observed in hospital.
 If the child becomes toxic (pale, very high fever, tachycardic) as this may mean the
child has an alternative diagnosis (e.g. bacterial tracheitis or epiglottitis).

Advise the parents to call for an emergency ambulance if the child:

 Becomes cyanosed.
 Is unusually sleepy.
 Is struggling to breathe.

79
Explain that cough medicines, decongestants, and short-acting beta-agonists are not
effective. Croup is usually a viral illness and antibiotics are not needed.

Xanthi is a 3 year old girl who presents with a two day history of a harsh cough, mild
intercostal recession and a fever. Observations in surgery show:

Heart rate 120 bpm

Respiratory
34/min
rate
Capillary refill 1 second
Temperature 37.4ºC

She has been eating and sleeping well, and remains playful in your surgery. What would be
the correct management?

Xanthi is suffering from a mild bout of croup and therefore the correct answer is to
prescribe oral dexamethasone and review if not improving. 

The NICE CKS categories croup into the following severity levels:

Mild:

 Occasional barking cough and no audible stridor at rest.

 No or mild suprasternal and/or intercostal recession.
 The child is happy and is prepared to eat, drink, and play.

Moderate:

 Frequent barking cough and easily audible stridor at rest.

 Suprasternal and sternal wall retraction at rest.
 No or little distress or agitation.
 The child can be placated and is interested in its surroundings.

Severe:

 Frequent barking cough with prominent inspiratory (and occasionally, expiratory)

stridor at rest.
 Marked sternal wall retractions.
 Significant distress and agitation, or lethargy or restlessness (a sign of hypoxaemia).
 Tachycardia occurs with more severe obstructive symptoms and hypoxaemia.

80
Impending respiratory failure may develop regardless of the severity of the symptoms:
The presence of any of these signs overrides any other clinical signs:

 Change in mental state, such as lethargy and listlessness or decreased level of

consciousness.
 Pallor.
 Dusky appearance.
 Tachycardia.

In children with impending respiratory failure, breathing may be laboured, a barking cough
may not be prominent, stridor at rest may be hard to hear, and sternal wall retractions may
not be marked.
A child who appears to be deteriorating but whose stridor appears to be improving has
worsening airways obstruction and is at high risk of complete airway occlusion.

Given that Xanthi's symptoms fit into the mild category the recommendation would be to
prescribe oral dexamethasone (0.15mg/kg) and review if not improving. 
This child has mild croup, the severity of croup is based upon; respiratory rate, respiratory
distress, heart rate, O2 saturations and exhaustion. Treatment of mild croup is oral
dexamethasone 0.15mg/kg single dose and review. Systemic dexamethasone and nebulised
adrenaline 5ml of 1:1000 are used in severe croup, alongside oxygen administration.
Antibiotics should not be given unless an underlying bacterial infection is suspected. You
should not perform an ENT exam due to the possibility of an epiglottis diagnosis.

A man brings his 18 month old daughter to your GP clinic. She has had coryzal symptoms
for the last 2 days. Last night, she started with a barking cough and a mild temperature of
37.8º. 

On examination, there is a mild stridor when mobilising, with no recessions visible. Chest
sounds clear with good air entry bilaterally. Temperature today remains at 37.8º, but all
other observations are normal. What is the appropriate management?

This is a child who has croup. This is an illness that usually starts with coryzal symptoms,
and the child then develops a seal like, barking cough.

The first stage is to work out how serious a case of croup this child has. Generally
recommendations include:

Mild OR Moderate OR Severe.

In this case, the child would have mild croup.

Admission to hospital is only considered for moderate or severe croup, or if an alternative

severe diagnosis like epiglottitis is suspected. It would not be appropriate in this case.

Nebulised adrenaline would only be used for children who were distressed, or who had a

81
severe stridor. It would be not be used in this case as this child is well at rest with only a
mild stridor on movement.

A salbutamol inhaler would only help if the child had wheeze, which she does not in this
case. It would not give her any benefit.

Antibiotics are not indicated in croup as it is a viral illness.

Systematic reviews have shown that steroids can ease symptoms within a few hours. They
also lead to fewer reattendances and fewer hospital admissions. Mild croup will resolve on
its own, but Dexamethasone has been shown to be of some benefit.

Acute epiglottitis

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
 Patients from travelling communities may not always receive a full course of
immunisation

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Whooping cough (pertussis)

The pertussis (whooping cough) vaccine is now offered to all pregnant women

The inspiratory 'whoop' is uncommon in patients this young.

Overview

 caused by the Gram negative bacterium Bordetella pertussis

 incubation period = 10-14 days

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  infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants
are particularly vulnerable, which is why the vaccincation 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
 around 1,000 cases are reported each year in the UK

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)
 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

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

 oral erythromycin to eradicate the organism and reduce spread

 has not been shown to alter the course of the illness

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

84
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 28-38 weeks pregnant will be offered the vaccine.

*weeks, not days

Asthma in children: stepwise management

The symptoms of night time cough and cough brought on by exercise are consistent with
uncontrolled asthma. The appropriate next step (Step 2 in the BTS and SIGN Stepwise
Management of Asthma in Children) would be to add a inhaled steroid 200-400 mcg/day
and arrange a review to ensure symptoms are controlled with this. 200 mcg/day is an
appropriate starting dose for many patients.
The British Thoracic Society differentiate between children younger and older than 5 years
in their 2014 guidelines:

Children aged under 5 years

Ste
p Therapy

1 As-required reliever therapy: short-acting beta2-agonist

2 Regular preventer therapy: inhaled corticosteroids, 200-400mcg/day*

Or, if inhaled corticosteroids cannot be used, a leukotriene receptor antagonist

3 Children aged 2-5 years: trial of a leukotriene receptor antagonist. If already taking
leukotriene receptor antagonist reconsider inhaled corticosteroids

Children aged under 2 years: refer to respiratory paediatrician

4 Refer to a respiratory paediatrician

Children aged over 5 years (similar to adult guidance)

Ste
p Therapy

1 As-required reliever therapy: short-acting beta2-agonist

85
Ste
p Therapy

2 Regular preventer therapy: inhaled corticosteroids, 200-400mcg/day*

3 1. Add inhaled long-acting B2 agonist (LABA)>>> The British Thoracic Society

guidelines advise adding a long-acting beta2-agonist before maximising the
inhaled steroid dose.
2. Assess control of asthma:

 good response to LABA - continue LABA

 benefit from LABA but control still inadequate: continue LABA and increase
inhaled steroid dose to 400 mcg/day* (if not already on this dose)
 no response to LABA: stop LABA and increase inhaled steroid to 400 mcg/
day.* If control still inadequate, institute trial of other therapies,
leukotriene receptor antagonist or SR theophylline

4 Increase inhaled corticosteroids to high-dose, up to 800mcg/day*

5 Use daily steroid tablet at lowest dose providing control

Maintain inhaled corticosteroids at 800mcg/day

Refer to a paediatrician

*beclometasone dipropionate or equivalent.

The diagram below is taken from the SIGN guidelines on the management of asthma in
children under the age of 5 years:

86
Gap (1) >>> 200-400 mcg/day beclometasone dipropionate

Gap (2) >>>  Leukotriene receptor antagonist

Gap (3) >>>  2 years

In this case the father reports wheeze with upper respiratory tract infections only and no
interval symptoms. This in isolation reduces the possibility of asthma and the most likely
alternative diagnosis to asthma is viral-induced wheeze in this age group.
SIGN guidance (SIGN 101: British guideline on the management of asthma) suggests
watchful waiting with review in children with mild, intermittent wheeze and other
respiratory symptoms which occur only with viral upper respiratory tract infections. In
these cases it is often reasonable to give no specific treatment and to plan a review of the
child after an interval agreed with the parents/carers to guide further investigations
and/or treatment.

Features than increase the possibility of asthma (Clinical Knowledge Summaries Asthma,
revised December 2013) include more than one of wheeze, cough, difficulty breathing or
chest tightness particularly if:

 Symptoms are frequent and recurrent.

 Symptoms are worse at night and in the early morning.
 Symptoms occur in response to, or are worse after, exercise or other triggers such
as exposure to pets, cold or damp air, or with emotions or laughter.
 Symptoms occur even when the person has not got a cold (coryzal illness).
 There is a personal history of another atopic disorder (hayfever, eczema).

87
  There is a family history of asthma and/or atopic disorder.
 If widespread wheeze (bilateral, predominantly expiratory) is found on
examination. It should be noted that the absence of wheeze does not rule out
asthma. In severe cases, chest wall movement may be reduced on both sides, and
wheeze may not be audible.
 There is prolonged expiration or an increased respiratory rate.

Features that lower the probability of asthma in children include (Clinical Knowledge
Summaries Asthma, revised December 2013):

 Symptoms with colds (coryzal illness) only.

 Isolated cough in the absence of wheeze or difficulty breathing.
 History of moist cough.
 Prominent dizziness, light-headedness, peripheral tingling.
 Clinical features pointing to an alternative diagnosis.
 Repeatedly normal physical examination of the chest when symptomatic.

Asthma in children: management of acute attacks

Quiet breath sounds in a child with asthma is a worrying feature. Children with asthma
normally have an obvious bilateral wheeze - the absence of this may suggest a life-
threatening asthma attack.

Children with severe or life threatening asthma should be transferred immediately to

hospital. 

Children between 2 and 5 years of age

Life-threatening
Moderate attack Severe attack attack

SpO2 > 92% SpO2 < 92% SpO2 <92%

No clinical features of severe Too breathless to talk or Silent chest
asthma feed Poor respiratory
Heart rate > 140/min effort
Respiratory rate > 40/min Agitation
Use of accessory neck Altered
muscles  consciousness
Cyanosis

Children greater than 5 years of age

Attempt to measure PEF in all children aged > 5 years.

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 Life-threatening
Moderate attack Severe attack attack

SpO2 > 92% SpO2 < 92% SpO2 < 92%

PEF > 50% best or PEF 33-50% best or predicted PEF < 33% best or
predicted Can't complete sentences in one breath or predicted
No clinical features too breathless to talk or feed Silent chest
of Heart rate > 125/min Poor respiratory
severe asthma Respiratory rate > 30/min effort
Use of accessory neck muscles Altered
consciousness
Cyanosis

For children with mild to moderate acute asthma:

Bronchodilator therapy

 give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
 give 1 puff every 15-30 seconds up to a maximum of 10 puffs; repeat dose after 10-
20 minutes if necessary
 if symptoms are not controlled repeat beta-2 agonist and refer to hospital

Steroid therapy >>> Asthma in children: prednisolone dose = 1-2 mg/kg od for 3-5 days

 should be given to all children with an asthma exacerbation

 treatment should be given for 3-5 days

Usual prednisolone dose

Age Dose as per BTS Dose as per cBNF

2 - 5 years 20 mg od 1-2 mg/kg od (max 40mg)

> 5 years 30 - 40 mg od 1-2 mg/kg od (max 40mg)

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 Peak Flow meter

Inhaler technique

The following inhaler technique guideline is for metered dose inhalers (source:
Asthma.org.uk, a resource recommended to patients by the British Thoracic Society)

1. Remove cap and shake

2. Breathe out gently

3. Put mouthpiece in mouth and as you begin to breathe in, which should be slow and deep,
press canister down and continue to inhale steadily and deeply

4. Hold breath for 10 seconds, or as long as is comfortable

5. For a second dose wait for approximately 30 seconds before repeating steps 1-4.

Only use the device for the number of doses on the label, then start a new inhaler.

Bronchiolitis

A low-grade fever is typical in bronchiolitis. SIGN guidelines advise that the presence of
high fever should make the clinician carefully consider other causes before making the
diagnosis.
SIGN guidelines do not support the use of bronchodilators in children with bronchiolitis.

Bronchiolitis is a condition characterised by acute bronchiolar inflammation. Respiratory

syncytial virus (RSV) is the pathogen in 75-80% of cases. SIGN released guidelines on
bronchiolitis in 2006. 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

90
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

SIGN suggested the following criteria for referral to hospital

 poor feeding (< 50% normal)

 lethargy
 apnoea
 respiratory rate > 70/min
 nasal flaring or grunting
 severe chest wall recession
 cyanosis
 oxygen saturation < 94%
 uncertainty regarding diagnosis

Investigation

 immunofluorescence of nasopharyngeal secretions may show RSV

Management is largely supportive

 humidified oxygen is given via a head box

91
Dominic is a 8 month old boy who presents with a two day history of cough, sneezing and
poor feeding (1 oz in the last four hours compared to 3 oz every 4 hours normally). On
examination he has mild crepitations and wheeze bilaterally. There is no sign of respiratory
distress.Observations in clinic are:

Heart rate 142bpm

Respiratory rate 48/min

Capillary refill 1 second

Temperature 37.6ºC

Oxygen saturation 98%

What would be the correct management?

The correct answer is to 'Refer for same day paediatric assessment'. 

Dominic appears to be suffering with bronchiolitis. There are a number of clues in the
history which would suggest a same day review in hospital:

 He is early in his illness (day 2 over an average 7 day period) and so may well
deteriorate further
 He is feeding at 33% of normal volume

The following guidelines are from SIGN:

Any of the following indications should prompt hospital referral/acute paediatric

assessment in an infant with acute bronchiolitis or suspected acute bronchiolitis:

 Poor feeding (<50% of usual fluid intake in preceding 24 hours)

92
  Lethargy
 History of apnoea
 Respiratory rate >70/min
 Presence of nasal flaring and/or grunting
 Severe chest wall recession
 Cyanosis
 Oxygen saturation 94%
 Uncertainty regarding diagnosis

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.

Breast feeding
Advantages Disadvantages

Transmission of drugs 
Mother
Transmission of infection (e.g.
 bonding HIV)
 involution of uterus
 protection against breast and ovarian cancer Nutrient inadequacies
 cheap, no need to sterilise bottle (prolonged breast feeding may
 contraceptive effect (unreliable) lead to vitamin D deficiency)

Vitamin K deficiency
Immunological Breast milk jaundice

 IgA (protects mucosal surfaces), lysozyme (bacteriolytic

enzyme) and lactoferrin (ensures rapid absorption of iron so
not available to bacteria)
 reduced incidence of ear, chest and gastro-intestinal infections
 reduced incidence of eczema and asthma
 reduced incidence of type 1 diabetes mellitus

Reduced incidence of sudden infant death syndrome

Baby is in control of how much milk it takes

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Breastfeeding problems
Mastitis

Mastitis affects around 1 in 10 breast feeding women. The BNF advises to treat 'if
systemically unwell, if nipple fissure present, if symptoms do not improve after 12-24
hours of effective milk removal of if culture indicates infection'. The first-line antibiotic is
flucloxacillin for 10-14 days. Breast feeding or expressing should continue during
treatment.
If left untreated, mastitis may develop into a breast abscess. This generally requires
incision and drainage.

Breast feeding: contraindications

The major breastfeeding contraindications tested in exams relate to drugs (see below).
Other contraindications of note include:

 galactosaemia
 viral infections - this is controversial with respect to HIV in the developing world.
This is because there is such an increased infant mortality and morbidity associated
with bottle feeding that some doctors think the benefits outweigh the risk of HIV
transmission

Drug contraindications

The following drugs can be given to mothers who are breast feeding:

 antibiotics: penicillins, cephalosporins, trimethoprim .

 endocrine: glucocorticoids (avoid high doses), levothyroxine*
 epilepsy: sodium valproate, carbamazepine
 asthma: salbutamol, theophyllines
 psychiatric drugs: tricyclic antidepressants, antipsychotics**
 hypertension: beta-blockers, hydralazine, methyldopa
 anticoagulants: warfarin, heparin
 digoxin

The following drugs should be avoided:

 antibiotics: ciprofloxacin, tetracycline, chloramphenicol, sulphonamides

 psychiatric drugs: lithium, benzodiazepines
 aspirin
 carbimazole
 sulphonylureas
 cytotoxic drugs
 amiodarone

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*the BNF advises that the amount is too small to affect neonatal hypothyroidism
screening……….**clozapine should be avoided.

Cow's milk protein intolerance/allergy

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

95
Management if breast-fed

 continue breastfeeding
 eliminate cow's milk protein from maternal diet
 use eHF milk when breastfeeding stops, until 12 months of age and at least for 6
months

CMPI usually resolves by 1-2 years of age. A challenge is often performed in the hospital
setting as anaphylaxis can occur.
If IgE mediated cow's milk protein allergy is suspected the child should be referred to
secondary care for skin prick or IgE specific antigen blood testing. Non-IgE mediated cow's
milk protein allergy can be managed in primary care. A trial of cow's milk exclusion for 2-4
weeks should initially be tried. In exclusively breast fed babies, Mum needs to exclude
cow's milk from their diet. For bottle fed babies, first line is a trial of extensively hydrolysed
formula. 
The majority of cases resolve before the age of 5 years.

Food allergy in children and young people

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 Skin

 pruritus  pruritus
 erythema  erythema
 urticaria  atopic eczema
 angioedema

Gastrointestinal system
Gastrointestinal system
 gastro-oesophageal reflux disease
 nausea  loose or frequent stools
 colicky abdominal pain  blood and/or mucus in stools
 vomiting  abdominal pain
 diarrhea  infantile colic
 food refusal or aversion
Respiratory system  constipation
 perianal redness
 upper respiratory tract symptoms - nasal  pallor and tiredness

96
 IgE-mediated Non-IgE-mediated

 faltering growth plus one or more

itching,sneezing, rhinorrhoea or gastrointestinal symptoms above (with or
congestion (with or without without significant atopic eczema)
conjunctivitis)
 lower respiratory tract symptoms -
cough, chest tightness, wheezing or
shortness of breath

Symptoms of anaphylaxis

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'

Blood

Sickle-cell crises
Sickle cell anaemia is characterised by periods of good health with intervening crises

Four main types of crises are recognised:

 thrombotic, 'painful crises'

 sequestration
 aplastic
 haemolytic

Thrombotic crises

 also known as painful crises or vaso-occlusive crises

 precipitated by infection, dehydration, deoxygenation
 infarcts occur in various organs including the bones (e.g. avascular necrosis of hip,
hand-foot syndrome in children, lungs, spleen and brain

97
Sequestration crises

 sickling within organs such as the spleen or lungs causes pooling of blood with
worsening of the anaemia
 acute chest syndrome: dyspnoea, chest pain, pulmonary infiltrates, low pO2 - the
most common cause of death after childhood

Aplastic crises

 caused by infection with parvovirus

 sudden fall in haemoglobin

Haemolytic crises

 rare
 fall in haemoglobin due an increased rate of haemolysis

Sickle-cell crises: management

General management

 analgesia e.g. opiates

 rehydrate
 oxygen
 consider antibiotics if evidence of infection
98
  blood transfusion
 exchange transfusion: e.g. if neurological complications

NICE Clinical Knowledge summaries state with regard to sickle cell disease in children:

Admit all people with clinical features of a sickle cell crisis to hospital unless they
are:

 A well adult who only has mild or moderate pain and has a temperature of 38°C or
less.
 A well child who only has mild or moderate pain and does not have an increased
temperature.

This is based on the recommendation that a fever with no identified source associated with
a sickle cell crisis needs bloods and cultures taken to look for the possible source of
infection and early treatment as there is a higher risk of severe infections due to
hyposplenism. 

Other indications for admission in children with sickle cell disease are:

Consider admission if the person presents with a fever but is otherwise generally
well.

 Admission is not necessarily required if the source of infection is obvious (such as a

viral illness) and can be managed in the community.

Have a low threshold for admission:

 In a child.
 If the person has a temperature over 38°C (as there is a risk of rapid deterioration).
 If the person has chest symptoms (as acute chest syndrome may develop quickly).

Make sure that the person with chest symptoms and their family understand the
importance of seeking urgent medical advice if their clinical state deteriorates, especially if
breathing becomes faster or more laboured.

 Whenever possible, admit the person to the specialist centre that has their records.

Iron deficiency anaemia in children

Iron deficiency anaemia is the most common nutritional disorder of childhood, affecting
around 10% of children in the UK. The prevalence is higher in Asian, Afro-Caribbean and
Chinese children

99
Causes

 socioeconomic - iron supplemented milk formulas may be more expensive

 unmodified cow's milk - a poor source of iron due to it being in a form that is not
absorbed well, therefore should be introduced after 1 year of age*
 ethnic origin - e.g. Asian mothers may introduce solids later

Prevention

 supplementary iron in milk

 dietary education
 free formulas for at risk infants

*whilst breast milk is relatively low in iron it is present in a form that is easily absorbed.

Jaundice in the newborn period

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

100
Causes of prolonged jaundice

 biliary atresia
 hypothyroidism
 galactosaemia
 urinary tract infection
 breast milk jaundice
 congenital infections e.g. CMV, toxoplasmosis

Rex has developed neonatal jaundice less than 24 hours after birth. The causes of neonatal
jaundice can be categorised into a timeline after birth (see below). Rhesus incompatibility
is the only option out of the possible answers that causes jaundice to develop less than 24
hours after birth. 

 Physiological jaundice presents after 24 hours

 Biliary atresia will usually present after 3 weeks (prolonged jaundice)
 Breast feeding jaundice presents after 24 hours
 Hypothyroidism presents after 3 weeks (prolonged jaundice)

The cause of neonatal jaundice can be categorised into the following groups:

 Early neonatal jaundice presenting less than 24 hours after birth - hameolytic
disease (rhesus incompatibility, ABO incompatibility, glucose-6-phosphate
dehydrogenase deficiency, spherocytosis), infection, autoimmune haemolytic
anaemia, Crigler-Najjar syndrome, Gilbert's syndrome.
 Jaundice presenting 24 hours to 3 weeks after birth - physiological jaundice, breast
milk jaundice, infection, haemolysis, bruising, polycythaemia, Crigler-Najjar
syndrome
 Jaundice presenting 3 weeks after birth (prolonged) - physiological jaundice, breast
milk jaundice, infection, hypothyroidism, haemolytic anaemia, gastro-intestinal
obstruction, biliary atresia, neonatal hepatitis.

101
G6PD deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red blood cell

enzyme defect. It is more common in people from the Mediterranean and Africa and is
inherited in a X-linked recessive fashion. Many drugs can precipitate a crisis as well as
infections and broad (fava) beans

Pathophysiology

 ↓ G6PD → ↓ glutathione → increased red cell susceptibility to oxidative stress

Features

 neonatal jaundice is often seen

 intravascular haemolysis
 gallstones are common
 splenomegaly may be present

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  Heinz bodies on blood films

Diagnosis is made by using a G6PD enzyme assay

Some drugs causing haemolysis

 anti-malarials: primaquine
 ciprofloxacin
 sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas

Some drugs thought to be safe

 penicillins
 cephalosporins
 macrolides
 tetracyclines
 trimethoprim

Comparing G6PD deficiency to hereditary spherocytosis

G6PD deficiency Hereditary spherocytosis

Gender Male (X-linked recessive) Male + female (autosomal dominant)

Ethnicity African + Mediterranean Northern European descent

descent

Typical • Neonatal jaundice • Neonatal jaundice

history • Infection/drugs • Chronic symptoms although haemolytic
precipitate haemolysis crises may be precipitated by infection
• Gallstones • Gallstones
• Splenomegaly is common

Blood film Heinz bodies Spherocytes (round, lack of central pallor)

Diagnostic Measure enzyme activity of Osmotic fragility test

test G6PD

Alpha-thalassaemia

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Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin

Overview

 2 separate alpha-globulin genes are located on each chromosome 16

Clinical severity depends on the number of alpha chains present

If 1 or 2 alpha chains are absent then the blood picture would be hypochromic and
microcytic, but the Hb level would be typically normal
Loss of 3 alpha chains results in a hypochromic microcytic anaemia with splenomegaly.
This is known as Hb H disease
If all 4 alpha chains absent (i.e. homozygote) then death in utero (hydrops fetalis, Bart's
hydrops)

Derma
Molluscum contagiosum

Molluscum contagiosum is a common skin infection caused by molluscum contagiosum

virus (MCV), a member of the Poxviridae family. Transmission occurs directly by close
personal contact, or indirectly via fomites (contaminated surfaces) such as shared towels
and flannels. The majority of cases occur in children (often in children with atopic eczema),
with the maximum incidence in preschool children aged 14 years.

Typically, molluscum contagiosum presents with characteristic pinkish or pearly white

papules with a central umbilication, which are up to 5 mm in diameter. Lesions appear in
clusters in areas anywhere on the body (except the palms of the hands and the soles of the
feet). In children, lesions are commonly seen on the trunk and in flexures, but anogenital
lesions may also occur. In adults, sexual contact may lead to lesions developing on the

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genitalia, pubis, thighs, and lower abdomen. Rarely, lesions can occur on the oral mucosa
and on the eyelids.

Self care advice:

 Reassure people that molluscum contagiosum is a self-limiting condition.

 Spontaneous resolution usually occurs within 18 months
 Explain that lesions are contagious, and it is sensible to avoid sharing towels,
clothing, and baths with uninfected people (e.g. siblings)
 Encourage people not to scratch the lesions. If it is problematic, consider treatment
to alleviate the itch
 Exclusion from school, gym, or swimming is not necessary

Treatment is not usually recommended. If lesions are troublesome or considered

unsightly, use simple trauma or cryotherapy, depending on the parents' wishes and
the child's age:

 Squeezing (with fingernails) or piercing (orange stick) lesions may be tried,

following a bath. Treatment should be limited to a few lesions at one time
 Cryotherapy may be used in older children or adults, if the healthcare professional is
experienced in the procedure
 Eczema or inflammation can develop around lesions prior to resolution. Treatment
may be required if:
 → Itching is problematic; prescribe an emollient and a mild topical corticosteroid
(e.g. hydrocortisone 1%)
 → The skin looks infected (e.g. oedema, crusting); prescribe a topical antibiotic (e.g.
fusidic acid 2%)

Referral may be necessary in some circumstances:

 For people who are HIV-positive with extensive lesions urgent referral to a HIV
specialist
 For people with eyelid-margin or ocular lesions and associated red eye urgent
referral to an ophthalmologist
 Adults with anogenital lesions should be referred to genito-urinary medicine, for
screening for other sexually transmitted infections

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Eczema in children

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

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Eczema herpeticum

Eczema herpeticum describes a severe primary infection of the skin by herpes simplex
virus 1 or 2. It is more commonly seen in children with atopic eczema. As it is potentially
life threatening children should be admitted for IV acyclovir.

Scabies

It is normal for pruritus to persist for up to 4-6 weeks post eradication

Scabies is caused by the mite Sarcoptes scabiei and is spread by prolonged skin contact. It
typically affects children and young adults. 

The scabies mite burrows into the skin, laying its eggs in the stratum corneum. The intense
pruritus associated with scabies is due to a delayed type IV hypersensitivity reaction to
mites/eggs which occurs about 30 days after the initial infection.

Features

 widespread pruritus
 linear burrows on the side of fingers, interdigital webs and flexor aspects of the
wrist

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  in infants the face and scalp may also be affected
 secondary features are seen due to scratching: excoriation, infection

Management

 permethrin 5% is first-line
 malathion 0.5% is second-line
 give appropriate guidance on use (see below)
 pruritus persists for up to 4-6 weeks post eradication

Patient guidance on treatment (from Clinical Knowledge Summaries)

 avoid close physical contact with others until treatment is complete

 all household and close physical contacts should be treated at the same time, even if
asymptomatic
 launder, iron or tumble dry clothing, bedding, towels, etc., on the first day of
treatment to kill off mites.

The BNF advises to apply the insecticide to all areas, including the face and scalp, contrary
to the manufacturer's recommendation. Patients should be given the following
instructions:

 apply the insecticide cream or liquid to cool, dry skin

 pay close attention to areas between fingers and toes, under nails, armpit area,
creases of the skin such as at the wrist and elbow
 allow to dry and leave on the skin for 8-12 hours for permethrin, or for 24 hours for
malathion, before washing off
 reapply if insecticide is removed during the treatment period, e.g. If wash hands,
change nappy, etc
 repeat treatment 7 days later

Crusted (Norwegian) scabies

Crusted scabies is seen in patients with suppressed immunity, especially HIV. 

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The crusted skin will be teeming with hundreds of thousands of organisms. 

Ivermectin is the treatment of choice and isolation is essential.

Acne vulgaris: management

Acne vulgaris is a common skin disorder which usually occurs in adolescence. It typically
affects the face, neck and upper trunk and is characterised by the obstruction of the
pilosebaceous follicles with keratin plugs which results in comedones, inflammation and
pustules.

Acne may be classified into mild, moderate or severe:

 mild: open and closed comedones with or without sparse inflammatory lesions
 moderate acne: widespread non-inflammatory lesions and numerous papules and
pustules
 severe acne: extensive inflammatory lesions, which may include nodules, pitting,
and scarring

A simple step-up management scheme often used in the treatment of acne is as

follows:

 single topical therapy (topical retinoids, benzyl peroxide)

 topical combination therapy (topical antibiotic, benzoyl peroxide, topical retinoid)
 oral antibiotics: e.g. Oxytetracycline, doxycycline. Improvement may not be seen for
3-4 months. Minocycline is now considered less appropriate due to the possibility of
irreversible pigmentation. Gram negative folliculitis may occur as a complication of
long-term antibiotic use - high-dose oral trimethoprim is effective if this occurs
 oral isotretinoin: only under specialist supervision

There is no role for dietary modification in patients with acne

A mother brings her 13-year-old son to the surgery as he has developed acne. On both his
face and back he has a number of inflammatory lesions consistent with moderate acne.
Which one of the following is the most appropriate guidance when prescribing oral
tetracyclines?

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 Patients must be 12 years or older

Head lice

Head lice (also known as pediculosis capitis or 'nits') is a common condition in children
caused by the parasitic insect Pediculus capitis, which lives on and among the hair of the
scalp of humans

Diagnosis

 fine-toothed combing of wet or dry hair

Management

 treatment is only if living lice are found

 a choice of treatments should be offered - malathion, wet combing, dimeticone,
isopropyl myristate and cyclomethicone

School exclusion is not advised for children with head lice

School exclusion is not advised for children with head lice

Strawberry naevus

Strawberry naevi (capillary haemangioma) are usually not present at birth but may
develop rapidly in the first month of life. They appear as erythematous, raised and
multilobed tumours.

Typically they increase in size until around 6-9 months before regressing over the next few
years (around 95% resolve before 10 years of age).

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Common sites include the face, scalp and back. Rarely they may be present in the upper
respiratory tract leading to potential airway obstruction
Capillary haemangiomas are present in around 10% of white infants. Female infants,
premature infants and those of mothers who have undergone chorionic villous sampling
are more likely to be affected

Potential complications

 mechanical e.g. Obstructing visual fields or airway

 bleeding
 ulceration
 thrombocytopaenia

If treatment is required (e.g. Visual field obstruction) then propranolol is increasingly

replacing systemic steroids as the treatment of choice.
Cavernous haemangioma is a deep capillary haemangioma

Genetics
Autosomal recessive

Sickle cell anaemia is an autosomal recessive condition. If one of the parents is not a carrier
and not affected by the condition there is therefore no chance any offspring would have the
disease.

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In autosomal recessive inheritance

 only homozygotes are affected

 males and females are equally likely to be affected
 not manifest in every generation - may 'skip a generation'

If two heterozygote parents

 25% chance of having an affected (homozygote) child

 50% chance of having a carrier (heterozygote) child
 25% chance of having an unaffected (i.e. genotypical) child

If one affected parent (i.e. homozygote for gene) and one unaffected (i.e. not a carrier or
affected)

 all the children will be carriers

Autosomal recessive disorders are often metabolic in nature and are generally more life-
threatening compared to autosomal dominant conditions.

Cystic fibrosis is autosomal recessive. If both parents are carriers there is a 1 in 4, or 25%,
chance a child would be affected by the disease.

Autosomal recessive conditions

Autosomal recessive conditions are 'metabolic' - exceptions: inherited ataxias

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Autosomal dominant conditions are 'structural' - exceptions: Gilbert's, hyperlipidaemia
type II
Huntington's disease, hereditary non-polyposis colorectal carcinoma, hereditary
spherocytosis and hypokalaemic periodic paralysis are all inherited in an autosomal
dominant fashion

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
 Ataxia 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

Cystic fibrosis

As cystic fibrosis is an autosomal recessive condition there is a 50% chance that their next
child will be a carrier of cystic fibrosis (i.e. be heterozygous for the genetic defect) and a
25% chance that the child will actually have the disease (be homozygous).

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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

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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

Cystic fibrosis: features

Arthropathy is not a common feature of cystic fibrosis

Presenting features

 neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
 recurrent chest infections (40%)
 malabsorption (30%): steatorrhoea, failure to thrive
 other features (10%): liver disease

Other features of cystic fibrosis

 short stature
 diabetes mellitus
 delayed puberty
 rectal prolapse (due to bulky stools)

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  nasal polyps
 male infertility, female subfertility

Cystic fibrosis: management

Management of cystic fibrosis involves a multidisciplinary approach

Key points

 regular (at least twice daily) chest physiotherapy and postural drainage. Parents are
usually taught to do this. Deep breathing exercises are also useful
 high calorie diet, including high fat intake*
 vitamin supplementation
 pancreatic enzyme supplements taken with meals
 heart and lung transplant

*this is now the standard recommendation - previously high calorie, low-fat diets have
been recommended to reduce the amount of steatorrhoea.

Bartter's syndrome

is an inherited cause (usually autosomal recessive) of severe hypokalaemia due to defective

chloride absorption at the Na+ K+ 2Cl- cotransporter in the ascending loop of Henle. It
should be noted that it is associated with normotension (unlike other endocrine causes of
hypokalaemia such as Conn's, Cushing's and Liddle's syndrome which are associated with
hypertension)

Features

usually presents in childhood, e.g. Failure to thrive

polyuria, polydipsia
hypokalaemia
normotension
weakness

Autosomal dominant
Many questions relating to autosomal dominant conditions are based around one of the
parents being affected. With achondroplasia both parents are often affected which can
make the interpretation slightly trickier.

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As an autosomal dominant condition, two affected parents can expect:

 1 in 4 chance of an unaffected child

 1 in 2 chance of an affected heterozygous child
 1 in 4 chance of an affected homozygous child. With achondroplasia children
unfortunately don't live past the first few months of life.

In autosomal dominant diseases:

 both homozygotes and heterozygotes manifest disease (there is no carrier state)

 both males and females affected
 only affected individuals can pass on disease
 disease is passed on to 50% of children
 normally appears in every generation (although see below)
 risk remains same for each successive pregnancy

Complicating factors:

 non-penetrance: lack of clinical signs and symptoms (normal phenotype) despite

abnormal gene. E.g. 40% otosclerosis
 spontaneous mutation: new mutation in one of gametes e.g. 80% of individuals with
achondroplasia have unaffected parents

Autosomal dominant conditions

Due to non-penetrance affected individuals do not always have affected parents

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

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  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
 Tuberose sclerosis
 Von Hippel-Lindau syndrome
 Von Willebrand's disease*

Achondroplasia
Achondroplasia is an autosomal dominant disorder associated with short stature. It is
caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results
in abnormal cartilage giving rise to:

 short limbs (rhizomelia) with shortened fingers (brachydactyly)

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  large head with frontal bossing
 midface hypoplasia with a flattened nasal bridge
 'trident' hands
 lumbar lordosis

ADPKD

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
cause of kidney disease, affecting 1 in 1,000 Caucasians. Two disease loci have been
identified, PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively

ADPKD type 1 ADPKD type 2

85% of cases 15% of cases

Chromosome 16 Chromosome 4

Presents with renal failure earlier

The screening investigation for relatives is abdominal ultrasound:

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Ultrasound diagnostic criteria (in patients with positive family history)

 two cysts, unilateral or bilateral, if aged < 30 years

 two cysts in both kidneys if aged 30-59 years
 four cysts in both kidneys if aged > 60 years

Extensive cysts are seen in an enlarged kidney

X-linked dominant
The following conditions are inherited in a X-linked dominant fashion*:

Alport's syndrome (in around 85% of cases - 10-15% of cases are inherited in an autosomal
recessive fashion with rare autosomal dominant variants existing)
Rett syndrome
Vitamin D resistant rickets

*pseudohypoparathyroidism was previously classified as an X-linked dominant condition

but has now been shown to be inherited in an autosomal dominant fashion in the majority
of cases.

X-linked recessive conditions

The following conditions are inherited in a X-linked recessive fashion:

Androgen insensitivity syndrome 

Becker muscular dystrophy
Colour blindness
Duchenne muscular dystrophy
Fabry's disease
G6PD deficiency
Haemophilia A,B
Hunter's disease

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Lesch-Nyhan syndrome
Nephrogenic diabetes insipidus
Ocular albinism
Retinitis pigmentosa
Wiskott-Aldrich syndrome

The following diseases have varying patterns of inheritance, with the majority being in an
X-linked recessive fashion:

Chronic granulomatous disease (in > 70%)

Ortho
Skull problems in children

Plagiocephaly 

 parallelogram shaped head

 the incidence of plagiocephaly has increased over the past decade. This may be due
to the success of the 'Back to Sleep' campaign

Craniosynostosis

 premature fusion of skull bones

Plagiocephaly is more common since there have been campaigns to encourage babies to
sleep on their back to reduce the risk of sudden infant death syndrome (SIDS).
Plagiocephaly is a skull deformity producing unilateral occipital flattening, which pushes
the ipsilateral forehead ear forwards producing a 'parrallelogram' appearance. The vast
majority improve by age 3-5 due to the adoption of a more upright posture. Helmets are
not usually recommended as there was no significant difference between groups in a
randomised controlled trial. Turning the cot around may help the child look the other way
and take the pressure off the one side. Other simple methods include giving the baby time
on their tummy during the day, supervised supported sitting during the day, and moving

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toys/ mobiles around in the cot to change the focus of attention. Ensure all advice is in line
with prevention of SIDS.

Microcephaly

Microcephaly may be defined as an occipital-frontal circumference < 2nd centile

Causes include

 normal variation e.g. small child with small head

 familial e.g. parents with small head
 congenital infection
 perinatal brain injury e.g. hypoxic ischaemic encephalopathy
 fetal alcohol syndrome
 syndromes: Patau
 craniosynostosis

Whilst not a classic cause of macrocephaly, children with Fragile X syndrome tend to have a
head larger than normal.

Rickets

Rickets is a term which describes inadequately mineralised bone in developing and

growing bones. This results in soft and easily deformed bones. It is usually due to vitamin D
deficiency. In adults the equivalent condition is termed osteomalacia

Predisposing factors

 dietary deficiency of calcium, for example in developing countries

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  prolonged breast feeding
 unsupplemented cow's milk formula
 lack of sunlight

Features

 in toddlers - genu varum (bow legs), in older children - genu valgum (knock knees)
 'rickety rosary' - swelling at the costochondral junction
 kyphoscoliosis
 craniotabes - soft skull bones in early life
 Harrison's sulcus
 reduced serum calcium - symptoms may results from hypocalcaemia
 raised alkaline phosphatase

Management

 oral vitamin D

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Perthes disease

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

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

Complications

 osteoarthritis
 premature fusion of the growth plates

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 Perthes disease - both femoral epiphyses show extensive destruction, the acetabula are
deformed

Perthes disease - bilateral disease

Growing pains

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'

125
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.

Developmental dysplasia of the hip ( mentioned in Ortho )

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.

Clinical examination is made using the Barlow and Ortolani tests:

 Barlow test: attempts to dislocate an articulated femoral head

 Ortolani test: attempts to relocate a dislocated femoral head

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

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  older children may require surgery

Breech presentation is a risk factor for developmental dysplasia of the hip (DDH), so you
should check that the baby has been referred for screening for this condition. The
Department of Health advises that all babies that were breech at any point from 36 weeks
(even if not breech by time of delivery), babies born before 36 weeks who had breech
presentation, and all babies with a first degree relative with a hip problem in early life,
should be referred for ultrasound of the hips. If one of a pair of twins is breech, both should
be screened. Some Trusts also refer babies with other conditions including
oligohydramnios, high birthweight, torticollis, congenital talipes calcaneovalgus and
metatarsus adductus. Further details on screening for DDH can be found at the link below.

Limping child

 Causes of a limping child may vary according to age

Acute onset
Usually accompanies viral infections, but the child is well
or has a mild fever
Transient synovitis More common in boys, aged 2-12 years

Septic arthritis/osteomyelitis Unwell child, high fever

Juvenile idiopathic arthritis Limp may be painless

Trauma History is usually diagnostic

Development dysplasia of the Usually detected in neonates

hip 6 times more common in girls

Perthes disease More common at 4-8 years

Due to avascular necrosis of the femoral head

Slipped upper femoral 10-15 years - Displacement of the femoral head epiphysis
epiphysis postero-inferiorly

A 7-year-old with a one day history of a painful right hip. Just about able to walk but
painful. Looks flushed and has a temperature of 38.7ºC >>> Septic
arthritis/osteomyelitis

An 8-month-old child is noted to have a discrepancy between the skin creases behind the
right and left hips >>> Development dysplasia of the hip

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An obese 13-year-old boy presents with a two week history of right sided knee pain
associated with a stiff right hip. There is no history of trauma >>> Slipped upper femoral
epiphysis

EYE
Squint

Squints may be classified as to where the eye deviates toward

 the nose: esotropia

 temporally: exotropia
 superiorly: hypertropia
 inferiorly: hypotropia

On covering the left eye in this example the right eye moves laterally from the nasal
(esotropic) position to take up fixation.
Amblyopia can develop in both paralytic and non-paralytic squints.

Squint (strabismus) is characterised by misalignment of the visual axes. Squints may be

divided into concomitant (common) and paralytic (rare)

Concomitant Paralytic

Due to imbalance in extraocular muscles Due to paralysis of extraocular muscles

Convergent is more common than divergent

Detection of a squint may be made by the corneal light reflection test - holding a light
source 30cm from the child's face to see if the light reflects symmetrically on the pupils

The cover test is used to identify the nature of the squint

 ask the child to focus on a object

 cover one eye
 observe movement of uncovered eye
 cover other eye and repeat test

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Management

 eye patches may help prevent amblyopia

 referral to secondary care is appropriate

Retinoblastoma

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

Pathophysiology

 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, repalced by a white pupil (leukocoria) - the most common

presenting symptom

129
  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

Vision testing in children

A newborn's visual acuity is only about 6/200. This improves to 6/60 at 3 months but does
no reach adult levels until about 2 years of age.
The table below summarises the vision tests which may be performed when assessing
children:

Age Test

Birth Red reflex

6 weeks Fix and follow to 90 degrees (e.g. Red ball 90cm away)

3 months Fix and follow to 180 degrees

No squint

12 months Can pick up 'hundreds and thousands' with pincer grip

> 3 years Letter matching test

> 4 years Snellen charts

Ishihara plates for colour vision

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 Headache
Headache in children

Migraine is the most common cause of primary headache in children

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:

A >= 5 attacks fulfilling features B to D

B Headache attack lasting 4-72 hours

C Headache has at least two of the following four features:

 bilateral or unilateral (frontal/temporal) location

 pulsating quality
 moderate to severe intensity
 aggravated by routine physical activity

D At least one of the following accompanies headache:

 nausea and/or vomiting

 photophobia and phonophobia (may be inferred from behaviour)

Acute management

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

 the use of triptans in children should only be initiated by a specialist

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  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
 orodispersible zolmitriptan (unlicensed) is widely used in children aged 8-years and
older
 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: 

A At least 10 previous headache episodes fulfilling features B to D

B Headache lasting from 30 minutes to 7 days

C At least two of the following pain characteristics:

 pressing/tightening (non/pulsating) quality

 mild or moderate intensity (may inhibit but does not prohibit activity)
 bilateral location
 no aggravation by routine physical activity

D Both of the following:

 no nausea or vomiting
 photophobia and phonophobia, or one, but not the other is present

Migraine: diagnostic criteria

Nausea, vomiting and abdominal pain are common in children with migraine.

The International Headache Society has produced the following diagnostic criteria for
migraine without aura:

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 Poin
t Criteria

A At least 5 attacks fulfilling criteria B-D

B Headache attacks lasting 4-72 hours* (untreated or unsuccessfully treated)

C Headache has at least two of the following characteristics:

 1. unilateral location*
 2. pulsating quality (i.e., varying with the heartbeat)
 3. moderate or severe pain intensity
 4. aggravation by or causing avoidance of routine physical activity (e.g.,
walking or climbing stairs)

D During headache at least one of the following:

 1. nausea and/or vomiting*

 2. photophobia and phonophobia

E Not attributed to another disorder (history and examination do not suggest a

secondary headache disorder or, if they do, it is ruled out by appropriate
investigations or headache attacks do not occur for the first time in close temporal
relation to the other disorder)

*In children, attacks may be shorter-lasting, headache is more commonly bilateral, and
gastrointestinal disturbance is more prominent.

Migraine with aura (seen in around 25% of migraine patients) tends to be easier to
diagnose with a typical aura being progressive in nature and may occur hours prior to the
headache. Typical aura include a transient hemianopic disturbance or a spreading
scintillating scotoma ('jagged crescent'). Sensory symptoms may also occur

If we compare these guidelines to the NICE criteria the following points are noted:

 NICE suggests migraines may be unilateral or bilateral

 NICE also give more detail about typical auras:

Auras may occur with or without headache and:

 are fully reversible

 develop over at least 5 minutes

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  last 5-60 minutes

The following aura symptoms are atypical and may prompt further
investigation/referral;

 motor weakness
 double vision
 visual symptoms affecting only one eye
 poor balance
 decreased level of consciousness.

Migraine: management

Avoid aspirin in children < 16 years as risk of Reye's syndrome

Aspirin should be avoided in children due to the risk of Reye's syndrome. The January 2009
feedback report indicated poor performance concerning medicines that are safe for adults
but may be unsuitable for children.

It should be noted that as a general rule 5-HT receptor agonists are used in the acute
treatment of migraine whilst 5-HT receptor antagonists are used in prophylaxis. NICE
produced guidelines in 2012 on the management of headache, including migraines.

Acute treatment

 first-line: offer combination therapy with an oral triptan and an NSAID, or an oral
triptan and paracetamol

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  for young people aged 12-17 years consider a nasal triptan in preference to an oral
triptan
 if the above measures are not effective or not tolerated offer a non-oral preparation
of metoclopramide* or prochlorperazine and consider adding a non-oral NSAID or
triptan

Prophylaxis

 prophylaxis should be given if patients are experiencing 2 or more attacks per

month. Modern treatment is effective in about 60% of patients.
 NICE advise either topiramate or propranolol 'according to the person's preference,
comorbidities and risk of adverse events'. Propranolol should be used in preference
to topiramate in women of child bearing age as it may be teratogenic and it can
reduce the effectiveness of hormonal contraceptives
 if these measures fail NICE recommend 'a course of up to 10 sessions of acupuncture
over 5-8 weeks' or gabapentin
 NICE recommend: 'Advise people with migraine that riboflavin (400 mg once a day)
may be effective in reducing migraine frequency and intensity for some people'
 for women with predictable menstrual migraine treatment NICE recommend either
frovatriptan (2.5 mg twice a day) or zolmitriptan (2.5 mg twice or three times a day)
as a type of 'mini-prophylaxis'
 pizotifen is no longer recommend. Adverse effects such as weight gain & drowsiness
are common

The correct answer is 'Combination of nasal triptan with non-steroidal anti-inflammatory

or paracetamol'. 

The following guidance is from the NICE CKS on Migraine. It states the management of
acute migraine in young people (aged 12-17 years):

 Prescribe simple analgesia for most children with migraine. Paracetamol or

ibuprofen are suitable.
 For young people aged 1217 years, offer combination therapy with nasal
sumatriptan and a nonsteroidal anti-inflammatory drug (NSAID), or nasal
sumatriptan and paracetamol.
 Oral triptans are not licensed for use in people under the age of 18 years

With regard to the above options, 900 mg of oral aspirin is contra-indicated in children
because of the potential risk of Reye's syndrome.
*caution should be exercised with young patients as acute dystonic reactions may develop.

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As stated above oral triptans are not licensed in those under the age of 18 years. 

A single NSAID can be considered if monotherapy is preferred.

Neuro-
Absence seizures

Absence seizures (petit mal) are a form of generalised epilepsy that is mostly seen in
children. The typical age of onset of 3-10 years old and girls are affected twice as commonly
as boys

Features

 absences last a few seconds and are associated with a quick recovery
 seizures may be provoked by hyperventilation or stress
 the child is usually unaware of the seizure
 they may occur many times a day
 EEG: bilateral, symmetrical 3Hz spike and wave pattern

Management

 sodium valproate and ethosuximide are first-line treatment

 good prognosis - 90-95% become seizure free in adolescence

Seizures are characteristically provoked by hyperventilation.

Benign rolandic epilepsy

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

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Infantile spasms

Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically

presents in the first 4 to 8 months of life and is more common in male infants. They are
often associated with a serious underlying condition and carry a poor prognosis

Features

 characteristic 'salaam' attacks: flexion of the head, trunk and arms followed by
extension of the arms
 this lasts only 1-2 seconds but may be repeated up to 50 times
 progressive mental handicap

Investigation

 the EEG shows hypsarrhythmia in two-thirds of infants

 CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)

Management

 poor prognosis
 vigabatrin is now considered first-line therapy
 ACTH is also used

Hypotonia in infancy

Hypotonia, or floppiness, may be central in origin or related to nerve and muscle problems.
An acutely ill child (e.g. septicaemic) may be hypotonic on examination. Hypotonia
associated with encephalopathy in the newborn period is most likely caused by hypoxic
ischaemic encephalopathy

Central causes

 Down's syndrome
 Prader-Willi syndrome
 hypothyroidism
 cerebral palsy (hypotonia may precede the development of spasticity)

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Neurological and muscular problems 

 spinal muscular atrophy

 spina bifida
 Guillain-Barre syndrome
 myasthenia gravis
 muscular dystrophy
 myotonic dystrophy

Miscellaneous
Obesity in children

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

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  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

Hypothyroidism in children

The most common cause of hypothyroidism in children (juvenile hypothyroidism) is

autoimmune thyroiditis.

Other causes include

 post total-body irradiation (e.g. in a child previous treated for acute lymphoblastic
leukaemia)
 iodine deficiency (the most common cause in the developing world)

Cleft lip and palate

Cleft lip and palate affect around 1 in every 1,000 babies. 

Pathophysiology

 polygenic inheritance
 maternal antiepileptic use increases risk
 cleft lip results from failure of the fronto-nasal and maxillary processes to fuse
 cleft palate results from failure of the palatine processes and the nasal septum to
fuse

Problems

 feeding: orthodontic devices may be helpful

 speech: with speech therapy 75% of children develop normal speech
 increased risk of otitis media for cleft palate babies

Management

 cleft lip is repaired earlier than cleft palate, with practices varying from repair in the
first week of life to three months
 cleft palates are typically repaired between 6-12 months of age

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Special educational needs

If a school and parents recognise that a child is struggling then a review is performed to see
what can be done - this is called 'School Action'. If help from outside agencies is needed (e.g.
educational psychologist, speech therapist) then the review is called 'School Action Plus'.
These actions may not however be adequate and a formal statement of educational needs
may be needed
A child may be defined as having special educational needs (SEN) if he or she has a
significantly greater difficulty in learning than the majority of children the same age, or has
a disability which either prevents or hinders the child from making use of educational
facilities provided for children of the same age in schools within the local area
A special educational needs coordinator (SENCO) is a teacher who specialises in the
assessment of children who may require help.
A 'statement' of SEN should be made and reviewed annually.

The Education Act 1993 set out the above and aimed to provide early intervention to
children with SEN.

Epstein's pearl

A congenital cyst found in the mouth. They are common on the hard palate, but may also be
seen on the gums where the parents may mistake it for an erupting tooth. No treatment is
generally required as they tend to spontaneously resolve over the course of a few weeks.

Gynaecological problems in children

In general vaginal examinations and vaginal swabs should not be performed - referral to a
paediatric gynaecologist is appropriate for persistent problems

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

Vulvovaginitis

 commonest gynaecological disorder in girls

 risk factors include poor hygiene, tight clothing, lack of labial fat pads protecting
vaginal orifice and lack of protective acid secretion found in the reproductive years

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  bacterial (such as Gardnerella and Bacteroides) or fungal organisms may be
responsible
 sexual abuse may occasionally present as vulvovaginitis
 if bloody discharge consider foreign body

Management

 advise about hygiene

 soothing creams may be useful
 topical antibiotics/antifungals
 oestrogen cream in resistant cases

Nocturnal enuresis

Children should be restricted from drinking fluids from 1 hour before until 8 hours after
taking desmopressin.

Nocturnal bedwetting is still very common at 4 years and the mother should be reassured

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 advise: 'Consider whether 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 ago 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

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Restricting fluids is not recommended advice - Clinical Knowledge Summaries suggest: 'Do
not restrict fluids. The child should have about eight drinks a day, spaced out throughout
the day, the last one about 1 hour before bed.'

Threadworms

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

Notifiable diseases

Below is a list of notifiable diseases in the UK. The 'Proper Officer' at the Local Health
Protection Team needs to be notified. They in turn will notify the Health Protection Agency
on a weekly basis.

Notable exceptions include:>>> HIV

In April 2010 the following diseases were removed from the list:

 Dysentery
 Ophthalmia neonatorum
 Leptospirosis
 Relapsing fever

Therefore, the current notifiable diseases are:

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  Acute encephalitis
 Acute infectious hepatitis
 Acute meningitis
 Acute poliomyelitis
 Anthrax
 Botulism
 Brucellosis
 Cholera
 Diphtheria
 Enteric fever (typhoid or paratyphoid fever)
 Food poisoning
 Haemolytic uraemic syndrome (HUS)
 Infectious bloody diarrhoea
 Invasive group A streptococcal disease
 Legionnaires Disease
 Leprosy
 Malaria
 Measles
 Meningococcal septicaemia
 Mumps
 Plague
 Rabies
 Rubella
 SARS
 Scarlet fever
 Smallpox
 Tetanus
 Tuberculosis
 Typhus
 Viral haemorrhagic fever (VHF)
 Whooping cough
 Yellow fever

Tongue-tie

Tongue-tie is also known as ankyloglossia. It is a congenital anomaly characterised by an

abnormally short, thick, lingual frenulum which prevents the tip of the tongue protruding
beyond the lower incisor teeth. It varies in degree of severity from mild cases where the
tongue is bound only by a thin mucous membrane, to a more severe form in which the
tongue is tethered to the floor of the mouth.
Many tongue ties are asymptomatic and milder forms can be managed with breastfeeding
advice and counselling, massaging the frenulum, and exercising the tongue. However,

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tongue-tie can cause significant problems with breastfeeding, along with speech and oral
hygiene problems in later life. A tethered tongue is prevented from contacting the anterior
palate, which hampers the progression to an adult-like swallow leading to open bite
deformity and mandibular prognathism.
Thus many clinicians advocate early surgical division, allowing mother to continue breast
feeding and prevent future speech, swallowing and feeding problems. 
Frenotomy is carried out using sharp, blunt-ended scissors to divide the lingual frenulum.
If performed in early infancy is usually performed without anaesthesia (although local
anaesthetic is sometimes used). In an older infants and children, general anaesthesia is
usually required.

Accidents and preventive healthcare

Accidents account for approximately one-third of all childhood deaths

Around 15-20% of children attend Emergency Departments in the course of a year due to
an accident. Accidents account for a third of all childhood deaths and are the single most
common cause of death in children aged between 1 - 15 years of age.

Key points

 road traffic accidents are the most common cause of fatal accidents
 boys and children from lower social classes are more likely to have an accident

Preventive healthcare

Preventive healthcare can be divided up into primary (preventing the accident/disease

from happening), secondary (prevent injury from the accident/disease) and tertiary (limit
the impact of the injury) prevention strategies.

Primary prevention Secondary prevention Tertiary prevention

Stopping smoking Wearing seat belts Teaching parents first aid

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 Primary prevention Secondary prevention Tertiary prevention

Stair guards Cycling helmets

Speed limits* Smoke alarms
Teaching road safety Laminated safety glass
Window safety catches

*some strategies such as reducing driving speed may have a role in both primary and
secondary accident prevention
Speed limits are an example of both a primary and secondary accident prevention strategy,
whereas cycling helmets are purely a secondary strategy.

Intussusception

Intussusception describes the invagination of one portion of bowel into the lumen of the
adjacent bowel, most commonly around the ileo-caecal region.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as
often as girls

Features

 paroxysmal abdominal colic pain

 during paroxysm the infant will characteristically draw their knees up and turn pale
 vomiting
 blood stained stool - 'red-currant jelly'
 sausage-shaped mass in the right lower quadrant

Investigation

 ultrasound is now the investigation of choice and may show a target-like mass

Management

 the majority of children can be treated with reduction by air insufflation under
radiological control, which is now widely used first-line compared to the traditional
barium enema
 if this fails, or the child has signs of peritonitis, surgery is performed

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Key points

 the average age of a child at adoption is around 4 years old

 single people, married couples, cohabiting couples and same-sex couples can all
adopt
 people wanting to adopt must be aged at least 21 years old
 the child must live with the adoptive parents for 3 months before the adoption is
finalised
 after this time all rights and responsibilities pass to the adoptive parents
 at the age of 18 years a child who has been adopted is entitled to their original birth
certificate

Diarrhoea and vomiting in children

Diarrhoea and vomiting is very common in younger children. The most common cause of
gastroenteritis in children in the UK is rotavirus. Much of the following is based around the
2009 NICE guidelines (please see the link for more details).

Clinical features

NICE suggest that typically:

 diarrhoea usually lasts for 5-7 days and stops within 2 weeks
 vomiting usually lasts for 1-2 days and stops within 3 days

When assessing hydration status NICE advocate using normal, dehydrated or shocked
categories rather than the traditional normal, mild, moderate or severe categories.

Clinical dehydration Clinical shock

Appears to be unwell or deteriorating Decreased level of consciousness

Decreased urine output
Skin colour unchanged Cold extremities
Warm extremities
Altered responsiveness (for example, irritable, Pale or mottled skin
lethargic)

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Clinical dehydration Clinical shock

Sunken eyes
Dry mucous membranes
Tachycardia Tachycardia
Tachypnoea Tachypnoea
Normal peripheral pulses Weak peripheral pulses
Normal capillary refill time Prolonged capillary refill time
Reduced skin turgor Hypotension
Normal blood pressure

The following children are at an increased risk of dehydration:

 children younger than 1 year, especially those younger than 6 months

 infants who were of low birth weight
 children who have passed six or more diarrhoeal stools in the past 24 hours
 children who have vomited three times or more in the past 24 hours
 children who have not been offered or have not been able to tolerate supplementary
fluids before presentation
 infants who have stopped breastfeeding during the illness
 children with signs of malnutrition

Features suggestive of hypernatraemic dehydration:

 jittery movements
 increased muscle tone
 hyperreflexia
 convulsions
 drowsiness or coma

Diagnosis

NICE suggest doing a stool culture in the following situations:

 you suspect septicaemia or

 there is blood and/or mucus in the stool or
 the child is immunocompromised

You should consider doing a stool culture if:

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  the child has recently been abroad or
 the diarrhoea has not improved by day 7 or
 you are uncertain about the diagnosis of gastroenteritis

Management

If clinical shock is suspected children should be admitted for intravenous rehydration.

For children with no evidence of dehydration

 continue breastfeeding and other milk feeds

 encourage fluid intake
 discourage fruit juices and carbonated drinks

If dehydration is suspected:

 give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours,
plus ORS solution for maintenance, often and in small amounts
 continue breastfeeding
 consider supplementing with usual fluids (including milk feeds or water, but not
fruit juices or carbonated drinks)

Capillary Refill Time

You review a 2-year-old child with suspected gastroenteritis. Which one of the following
features would be the strongest indication for performing a stool culture?

Mucus in the stool

Cerebral palsy

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Cerebral palsy may be defined as a disorder of movement and posture due to a non-
progressive lesion of the motor pathways in the developing brain. It affects 2 in 1,000 live
births and is the most common cause of major motor impairment.

Possible manifestations include:

 abnormal tone early infancy

 delayed motor milestones
 abnormal gait
 feeding difficulties

Children with cerebral palsy often have associated non-motor problems such as:

 learning difficulties (60%)

 epilepsy (30%)
 squints (30%)
 hearing impairment (20%)

Causes

 antenatal (80%): e.g. cerebral malformation and congenital infection (rubella,

toxoplasmosis, CMV)
 intrapartum (10%): birth asphyxia/trauma
 postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma

Classification

 spastic (70%): hemiplegia, diplegia or quadriplegia

 dyskinetic
 ataxic
 mixed

Management

 as with any child with a chronic condition a multidisciplinary approach is needed

 treatments for spasticity include oral diazepam, oral and intrathecal baclofen,
botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
 anticonvulsants, analgesia as required

149
Autism

Repetitive behaviour is not part of the diagnostic criteria for ADHD and may suggest a
disorder on the autistic spectrum.
Epidemiology

 75% of children are male

 usually develops before 3 years of age

All 3 of the following features must be present for a diagnosis to be made

 global impairment of language and communication

 impairment of social relationships
 ritualistic and compulsive phenomena

Other features

 most children have a decreased IQ - the 'idiot savant' is rare

Associated conditions>>>> Fragile X or Rett's syndr

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Attention Deficit Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder (ADHD) is characterised by

 extreme restlessness
 poor concentration
 uncontrolled activity
 impulsiveness

ADHD is diagnosed in about 5% of American children, In the UK, where the term
hyperkinetic syndrome is preferred, only 0.1% of children are diagnosed with the
condition. The male:female ratio is 5:1

Management

 specialist assessment is required in all cases

 unless a food diary has shown a link between diet and behaviour there is no basis
for recommending the avoidance of artificial colourings or the use of fatty acid
supplements

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  methylphenidate (Ritalin) - side-effects include abdominal pain, nausea, dyspepsia.
Growth is not usually affected but it is advised to monitor growth during treatment
every 6 months. The BNF also advises monitoring for psychiatric disorders and
checking blood pressure/pulse every 6 months
 atomoxetine

Puberty

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

Precocious puberty

Definition

 'development of secondary sexual characteristics before 8 years in females and 9

years in males'
 more common in females

152
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

Henoch-Schonlein purpura

Henoch-Schonlein purpura (HSP) is an IgA mediated small vessel vasculitis. There is a

degree of overlap with IgA nephropathy (Berger's disease). HSP is usually seen in children
following an infection.

153
Features

 palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces
of arms and legs
 abdominal pain
 polyarthritis
 features of IgA nephropathy may occur e.g. haematuria, renal failure

Treatment

 analgesia for arthralgia

 treatment of nephropathy is generally supportive. There is inconsistent evidence for
the use of steroids and immunosuppressants

Prognosis

 usually excellent, HSP is a self-limiting condition, especially in children without

renal involvement
 around 1/3rd of patients have a relapse

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Hypokalaemia and hypertension

For exams it is useful to be able to classify the causes of hypokalaemia in to those

associated with hypertension, and those which are not

Hypokalaemia with hypertension

 Cushing's syndrome
 Conn's syndrome (primary hyperaldosteronism)
 Liddle's syndrome
 11-beta hydroxylase deficiency*

Carbenoxolone, an anti-ulcer drug, and liquorice excess can potentially cause hypokalaemia
associated with hypertension

Hypokalaemia without hypertension

 diuretics
 GI loss (e.g. Diarrhoea, vomiting)
 renal tubular acidosis (type 1 and 2**)
 Bartter's syndrome
 Gitelman syndrome

*21-hydroxylase deficiency, which accounts for 90% of congenital adrenal hyperplasia

cases, is not associated with hypertension

**type 4 renal tubular acidosis is associated with hyperkalaemia

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Napkin rashes

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

The most common cause, due to irritant effect of urinary ammonia

and faeces
Irritant dermatitis Creases are characteristically spared

Candidadermatitis Typically an erythematous rash which involve the flexures and

has characteristic satellite lesions

Seborrhoeic Erythematous rash with flakes. May be coexistent scalp rash

dermatitis

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

Infantile Colic :

Infantile colic describes a relatively common and benign set of symptoms seen in young
infants. It typically occurs in infants less than 3 months old and is characterised by bouts of
excessive crying and pulling-up of the legs, often worse in the evening
Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unkown.

Pyloric stenosis

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

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  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.

 Pyloric stenosis typically presents around 2-6 weeks of age. Infants tend to have projectile
vomiting following feeds and remain hungry after vomiting. There may be an olive shaped
mass in the right upper quadrant due to hypertrophy of the pylorus, and 'waves of
peristalsis' may be seen following a test feed. 

Infantile colic may present at a similar age however it is characterised by paroxysms of

crying rather than frequent vomitting. Examination is normal in these infants. 

Cows milk protein intolerance often presents with diarrhoea preceding vomiting.

Galactosaemia is an autosomal recessive metabolic conditions which can present with

failure to thrive and vomiting in infancy, however the vomiting is not characterised as
'projectile.' Galactosaemia may be detected by the newborn Guthrie skin-prick test, and 'oil
drop' cataracts may be noted on examination.

Constipation in children

Constipation is unusual in an exclusively breast fed baby and may suggest an underlying
cause.
Constipation in children: Movicol is first-line

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:

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 Child < 1 year Child > 1 year

Stool pattern Fewer than 3 complete stools per week Fewer than 3 complete
(type 3 or 4 on Bristol Stool Form Scale) stools per week (type 3 or
(this does not apply to exclusively 4)
breastfed babies after 6 weeks Overflow soiling
of age) (commonly very loose, very
Hard large stool smelly, stool passed
'Rabbit droppings' (type 1) without sensation)
'Rabbit droppings' (type 1)
Large, infrequent stools
that can block the toilet

Symptoms Distress on passing stool Poor appetite that

associated with Bleeding associated with hard stool improves with passage of
defecation Straining 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 episode(s) of

Previous or current anal fissure 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
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  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:

'Red flag' suggesting

Indicates idiopathic constipation underlying disorder

Timing Starts after a few weeks of life Reported from birth or

Obvious precipitating factors coinciding first few weeks of life
with the start of symptoms: fissure, change
of diet, timing of potty/toilet training or
acute events such as infections, moving
house, starting nursery/school, fears and
phobias, major change in family, taking
medicines

Passage of < 48 hours > 48 hours

meconium

Stool pattern 'Ribbon' stools

Growth Generally well, weight and height within Faltering growth is

normal limits, fit and active an amber flag

Neuro/locomotor No neurological problems in legs, normal Previously unknown

locomotor development or undiagnosed
weakness in legs,
locomotor delay

Abdomen Distension

Diet Changes in infant formula, weaning,

insufficient fluid intake or poor diet

Other Amber flag: Disclosure

or evidence that raises
concerns over
possibility of child
maltreatment

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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

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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

A 3-year-old boy is brought into surgery. His mother tells you that his stools 'have always
been on the firm side' and for the past two weeks he has been using a combination of
lactulose (10ml bd) and senna (2 tablets od) that was prescribed by one of your colleagues.
Despite he is still only passing a hard stool every 2-3 days. Clinical examination is
unremarkable. What is the most appropriate next step?

Switch the lactulose for a macrogol (Movicol Paediatric Plain)

Despite the lactulose and senna being given at high doses there appears to be little
improvement in his symptoms. A macrogol should therefore be added. There is no logic to
giving two types of osmotic laxative (lactulose and a macrogol) at the same time.

Short Stature :

Short stature may be caused by:

 normal variant (often familial)

 constitutional delay of growth and puberty
 chronic illness e.g. cystic fibrosis, inflammatory bowel disease
 endocrine: growth hormone deficiency , hypothyroidism, steroid excess
 syndromes: Turner's, Down's, Prader-Willi
 skeletal dysplasias e.g. achondroplasia

The adult height potential may be calculated for a male child by (father's height in cm +
mother's height in cm) / 2 then add 7 cm

For a female child by (father's height in cm + mother's height in cm) / 2 then minus 7 cm

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This can then be plotted on a height centile chart to find the mid-parental centile

Sudden infant death syndrome

The incidence of sudden infant death syndrome increases in the winter months.

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. After the age of 1 year accidents are the most common
cause of death in children.

Risk factors

 prematurity
 parental smoking
 hyperthermia (e.g. over-wrapping)
 putting the baby to sleep prone
 male sex
 multiple births
 bottle feeding
 social classes IV and V
 maternal drug use
 incidence increases in winter

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

Child Abuse :

Frequent attendance to the A&E department, rather than GP, may point towards child
abuse as parents presume they will see a different doctor each time, making it less likely
suspicions will be aroused

Children may disclose abuse themselves. Other factors which point towards child
abuse include:

 story inconsistent with injuries

 repeated attendances at A&E departments
 late presentation
 child with a frightened, withdrawn appearance - 'frozen watchfulness'

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Possible physical presentations of child abuse include:

 bruising
 fractures: particularly metaphyseal, posterior rib fractures or multiple fractures at
different stages of healing
 torn frenulum: e.g. from forcing a bottle into a child's mouth
 burns or scalds
 failure to thrive
 sexually transmitted infections e.g. Chlamydia, Gonorrhoea, Trichomonas

Child abuse: NICE guidelines

NICE published guidelines on when to suspect child maltreatment in 2009. Remember

child abuse may include physical, emotional and sexual abuse, neglect and fabricated or
induced illness.
In the guidelines there are a large number of features listed which should raise the
suspicion of abuse. The full list has not been replicated here (please use the link provided) -
we have only picked selected features.

Neglect
Features where you should consider
abuse Features where you should suspect abuse

Severe and persistent infestations (e.g. Failure to seek medical advice which
Scabies or head lice) compromises the child's health
Parents who do not administer Child who is persistently smelly and dirty
essential prescribed treatment Repeat observations that:
Parents who persistently fail to obtain
treatment for tooth decay  poor standards of hygiene that affects
Parents who repeatedly fail to attend the child's health
essential follow-up appointments  inadequate provision of food
Parents who persistently fail to engage  living environment that is unsafe for
with child health promotion the child's development stage
Failure to dress the child in suitable
clothing
Animal bite on an inadequately
supervised child

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Sexual abuse
Features where you should consider
abuse Features where you should suspect abuse

Persistent dysuria or anogenital Persistent or recurrent genital or anal symptoms

discomfort without a medical associated with a behavioural or emotional
explanation change
Gaping anus in a child during Anal fissure when constipation and Crohn's
examination without a medical disease have been excluded as the cause
explanation STI in a child younger than 12 years (where
Pregnancy in a young women aged 13- there is no evidence of vertical or blood
15 years transmission
Hepatitis B or anogenital warts in a Sexualised behaviour in a prepubertal child
child 13-15 years

Physical abuse
Features where you should
consider abuse Features where you should suspect abuse

Any serious or unusual injury Bruising, lacerations or burns in a child who is not
with an absent or unsuitable independently mobile or where there is an absent or
explanation unsuitable explanation
Cold injuries in a child with no Human bite mark not by a young child
medical explanation One or more fractures if there is an unsuitable
Hypothermia in a child without explanation, including:
a suitable explanation
Oral injury in a child with an  fractures of different ages
absent or suitable explanation  X-ray evidence of occult fractures

Retinal haemorrhages with no adequate explanation

Paediatric basic life support

The 2010 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

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Key points of algorithm

 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 .

if only one recuer use 30 : 2

Peutz-Jeghers syndrome

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Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous
hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented
freckles on the lips, face, palms and soles. Around 50% of patients will have died from a
gastrointestinal tract cancer by the age of 60 years.

Genetics

 autosomal dominant
 responsible gene encodes serine threonine kinase LKB1 or STK11

Features

 hamartomatous polyps in GI tract (mainly small bowel)

 pigmented lesions on lips, oral mucosa, face, palms and soles
 intestinal obstruction e.g. intussusception
 gastrointestinal bleeding

Management

 conservative unless complications develop

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Undescended testis

Undescended testicle - wait 6 months prior to referral

If the testicle has not descended by around 6 months then referral should be considered for
orchidopexy.
Undescended testis occurs in around 2-4% 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

 orchidopexy: referral should be considered from around 6 months of age. Surgical

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

Undescended testicles is a common finding on examination of the newborn. Try to 'milk'

the testis down the inguinal canal - if it can be brought in to the scrotum it is retractile
rather than undescended. The testicles will usually have descended by six months of age;
arrange to review the baby towards the end of their first year and if still not descended,
refer for orchidopexy. 

Bilateral impalpable testes at birth should raise suspicions of problems such as congenital
adrenal hyperplasia and urgent paediatric review should be sought.

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Umbilical hernia in children

Umbilical hernia are relatively common in children and may be found during the newborn
exam. Usually no treatment is required as they typically resolve by 3 years of age

Associations

 Afro-Caribbean infants
 Down's syndrome
 mucopolysaccharide storage diseases

Small umbilical hernias are common in babies and tend to resolve by 12 months of age.
Parents should be reassured no treatment is usually required but to be aware of the signs
of obstruction or strangulation such as vomiting, pain and being unable to push the hernia
in - this is rare in infants. Advise the parents to present the child at around 2 years of age if
the hernia is still present to arrange referral to a surgeon. Attempts to treat the hernia by
strapping or taping things over the area are not helpful and can irritate the skin.

Drugs

Drug dose calculations

Questions requiring you to calculate drug doses are increasingly common due to concerns
about the frequency of prescription errors. There have been several high profile cases
where such calculations have been incorrect by a factor of 10 resulting in serious patient
harm.
Whilst the calculations themselves are relatively simple it easy to make a mistake.

Many calculations involve drugs given either as solutions or infusions. These require you

168
first to work out the correct dose for the patients weight, e.g.

Paracetamol for a child: 20mg/kg, every 6-8 hours

The child weighs 18kg therefore 18 * 20 = 360mg.

Paracetamol oral suspension is available as 120mg/5ml

Therefore we divide 360 by the 'top' figure - 120 = 3 and times this by the 'bottom' figure -
5

i.e. 360mg / 120mg = 3 * 5ml = 15 ml of paracetamol oral suspension 120mg/5ml should

be given every 6-8 hours.
Anaphylaxis

Anaphylaxis may be defined as a severe, life-threatening, generalised or systemic

hypersensitivity reaction.
Anaphylaxis is one of the few times when you would not have time to look up the dose of a
medication. The Resuscitation Council guidelines on anaphylaxis have recently been
updated. Adrenaline is by far the most important drug in anaphylaxis and should be given
as soon as possible. The recommended doses for adrenaline, hydrocortisone and
chlorphenamine are as follows:

Adrenaline Hydrocortisone Chlorphenamine

< 6 months 150 micrograms (0.15ml 1 25 mg 250

in 1,000) micrograms/kg

6 months - 6 years 150 micrograms (0.15ml 1 50 mg 2.5 mg

in 1,000)

6-12 years 300 micrograms (0.3ml 1 in 100 mg 5 mg

1,000)

Adult and child > 500 micrograms (0.5ml 1 in 200 mg 10 mg

12 years 1,000)

Adrenaline can be repeated every 5 minutes if necessary. The best site for IM injection is
the anterolateral aspect of the middle third of the thigh.

Common identified causes of anaphylaxis

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  food (e.g. Nuts) - the most common cause in children
 drugs
 venom (e.g. Wasp sting)

Carbamazepine

Carbamazepine is chemically similar to the tricyclic antidepressant drugs. It is most

commonly used in the treatment of epilepsy, particularly partial seizures, where
carbamazepine remains a first-line medication. Other uses include

 neuropathic pain (e.g. trigeminal neuralgia, diabetic neuropathy)

 bipolar disorder

Mechanism of action

 binds to sodium channels increases their refractory period

Adverse effects

 P450 enzyme inducer

 dizziness and ataxia
 drowsiness
 headache
 visual disturbances (especially diplopia)
 Steven-Johnson syndrome
 leucopenia and agranulocytosis
 syndrome of inappropriate ADH secretion
 Transient erythematous rash

Codeine

The July 2013 issue of the Drug Safety Update carried a warning on the use of codeine in
children due to reports of morphine toxicity.
You may have been aware for a while that adult patients can react very differently to
codeine, for example when given in the co-codamol formulation. One of the main reasons
for this is the CY62D6 component of the P450 enzyme system. Genetic variations of
CY62D6 affect the rate at which codeine is converted to morphine. Therefore some patients
are likely to be very 'sensitive' to the effects of codeine. A review has found that a number
of paediatric patients have had serious events linked to the use of codeine. It seems
patients from the southern European countries, the Middle East and Africa have a higher
incidence of rapid codeine metabolism than northern Europeans.

Most of the paediatric adverse events have involved respiratory depression and children

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with a history of obstructive sleep apnoea (e.g. secondary to enlarged tonsils/adenoids)
seem particularly at risk.
The MHRA now advise that codeine should only be used in children > 12 years of age for
pain that is not controlled by paracetamol or ibuprofen.
It also advises that codeine should not be used by breastfeeding mothers due to the
potential effects of morphine toxicity on the baby
Aspirin should not be used in children due to the risk of Reye's syndrome.

The MHRA advise that codeine should not be used in children < 12 years due to the risk of
morphine toxicity and associated respiratory depression

Drug Dosage :

 The BNF states the trimethoprim dose for acute infections is 4 mg/kg every 12
hours, for prophylaxis 2 mg/kg at night.
 to help prevent a secondary case of meningococcal disease. The recommended dose
of Rifampicin for children is 10 mg/kg (max 600mg) every 12 hours for 2 days.
 Paracetamol for a child: 20mg/kg, every 6-8 hours

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

Over-the-counter treatments
Cough and cold remedies

In 2009 the Medicines and Healthcare products Regulatory Agency (MHRA) / Commission
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on Human Medicines (CHM) announced a major change in the regulation of over-the-
counter (OTC) preparations aimed at children with coughs/colds (e.g. Tixylix, Medised etc)

This affected medicines containing a wide range of ingredients:

 cough suppressants: dextromethorphan and pholcodine

 expectorants: guaifenesin and ipecacuanha
 nasal decongestants: ephedrine, oxymetazoline, phenylephrine, pseudoephedrine
and xylometazoline
 antihistamines: brompheniramine, chlorphenamine, diphenhydramine, doxylamine,
promethazine and triprolidine

Products with these ingredients should therefore be avoided in children under the age of 6
years. Products aimed at children aged 6-12 years which contain these ingredients will
only be available after discussion with a pharmacist, i.e. Not on the shelves.

Malaria: prophylaxis

There are around 1,500-2,000 cases each year of malaria in patients returning from
endemic countries. The majority of these cases (around 75%) are caused by the potentially
fatal Plasmodiumfalciparum protozoa. The majority of patients who develop malaria did
not take prophylaxis. It should also be remembered that UK citizens who originate from
malaria endemic areas quickly lose their innate immunity.

Up-to-date charts with recommended regimes for malarial zones should be consulted prior
to prescribing

Time to begin Time to end

Drug Side-effects + notes before travel after travel

Atovaquone + GI upset 1 - 2 days 7 days

proguanil (Malarone)

Chloroquine Headache 1 week 4 weeks

Contraindicated in
epilepsy
Taken weekly

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 Time to begin Time to end
Drug Side-effects + notes before travel after travel

Doxycycline Photosensitivity 1 - 2 days 4 weeks

Oesophagitis

Mefloquine (Lariam) Dizziness 2 - 3 weeks 4 weeks

Neuropsychiatric
disturbance

Contraindicated in
epilepsy
Taken weekly

Proguanil (Paludrine) 1 week 4 weeks

Proguanil + See above 1 week 4 weeks

chloroquine

Pregnant women should be advised to avoid travelling to regions where malaria is

endemic. Diagnosis can also be difficult as parasites may not be detectable in the blood film
due to placental sequestration. However, if travel cannot be avoided:

 chloroquine can be taken

 proguanil: folate supplementation (5mg od) should be given
 Malarone (atovaquone + proguanil): the BNF advises to avoid these drugs unless
essential. If taken then folate supplementation should be given
 mefloquine: caution advised
 doxycycline is contraindicated

It is again advisable to avoid travel to malaria endemic regions with children if avoidable.
However, if travel is essential then children should take malarial prophylaxis as they are
more at risk of serious complications.

 diethyltoluamide (DEET) 20-50% can be used in children over 2 months of age

 doxycycline is only licensed in the UK for children over the age of 12 years

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