Hannah Cooke, 2016/17

Paediatrics
Paediatric History Taking

The child’s age is a key feature in their history and examination as it determines

- The nature and presentation of illnesses, developmental, and behavioural problems

- The way in which the history taking and examination are conducted

Paediatric history is largely collateral, dependent on the age of the patient

- Always establish the relationship of the adults accompanying the child (parents,
grandparents etc.)
- It is important to introduce yourself directly to the child, and address them where relevant
- Subjective symptoms make collateral history difficult
o Symptoms that the parent thinks the child is experiencing are based upon the
pattern of behaviour that the child is displaying
o Ask specifically what it is the child is doing that indicates to the parent that they are
experiencing that symptom

Paediatric History Routine

PC and HPC should be addressed first

- Where relevant, get the child to recount their presenting complaint in their own words
- Always ask for if the parents have any specific concerns that need to be addressed

There should then be a general enquiry into the child’s health, to establish how unwell they may be

- Temperatures, and how they were recorded

- How active and lively are they compared to normal
- Asking about feeding and urine/bowel output helps establish hydration status
o For children ask specifically how much have they been eating and drinking, and what
is this like relative to normal
o For infants, quantifying feeding differs between breast and bottle feeding
▪ For bottle, clarify quantity of feeding in ml/kg/24hr
▪ For breast, quantify based upon total minutes of feeding
o <60% of normal fluids is a marker for dehydration
o <2 wet nappies in 24hr is concerning, as is no urine output in 12 hours

Systems enquiry

- General rashes
- Respiratory/ENT: cough, wheeze, breathing problems, noisy breathing
- Cardiovascular: exercise tolerance
- GI: vomiting, diarrhoea, constipation, abdominal pain
- GU: dysuria, frequency, enuresis
- Neurological: seizures, headaches, abnormal gait
- MSK: abnormal gait, pain, swelling
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Past medical history

Medications, allergies, and immunisations

Obstetric history

- Maternal obstetric complications

- Where was the child born?
- Gestation
- Delivery
- Birthweight
- Perinatal complications

Growth and development

- Key developmental milestones, any parental concerns

- Assess growth chart where available

Family history

Social history

- Household members, and their relation to the child

o Sufficient to be able to draw a simple family tree, including ages
- Parental occupation
- Additional individuals involved in childcare
- Schooling
o Is the child happy at school/nursery
- Always ensure to ask
o Parental smoking, alcohol, illicit drug use
o Is there any social worker involvement with the family
o Parental consanguinity

Examination of Young Children

General Approach to Examining Children

It is important to try and obtain the child’s cooperation

- Approach the child on their level, and avoid dominating them

- If the child is unfamiliar with being examined, or appears scared perform short mock
examinations
o Show the child what you are going to do by performing it on the parent/ a toy
o Offer for the child to do it first e.g. listen to the parent with the stethoscope
- Start the examination on a non-threatening, already exposed area e.g. hand
- Always leave unpleasant procedures (e.g. ENT examination) until last

Approach the patient with a structure (This can be systems based, or with a top-to-toe assessment),
but be opportunistic
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- If the child is settled/sleeping perform cardio-respiratory assessment or examine the

fontanelle
- If the child is crying, look in their mouth

Adapt examination to the child’s age e.g. in the parent’s arms, while playing

Undress the child in stages, and re-dress them as you have completed. It is best to ask the parent to
undress the child, or the child to undress themselves.

Initial Observations

Assess the patient’s environment

Inspection of the patient on the whole

- Safeguarding factors e.g. dress, hygiene, interaction with parents

- Tone and posture, including cry
- Hydration status
- Colouring
- General appearance, noting any dysmorphic features

Always assess

- Height/length and weight, plotting on growth chart

- Head circumference (2cm above the ears), take 3 measurements and plot the highest on a
growth chart
- 60 second rapid assessment
o Respiratory rate and effort
o Heart rate, capillary refill, and peripheral temperature
o Level of consciousness
- ENT examination
- Fontanelle in infants
- Lymph nodes
o Palpable cervical lymph nodes can be normal, so check to see if these have been
documented before

Respiratory Examination

Closer inspection

- Cyanosis is best observed on the tongue

- Clubbing of the fingers and/or toes
o Cystic fibrosis or cyanotic congenital heart disease
- Respiratory rate

<1 1–2 2–5 5 – 12 >12

Respiratory 30 – 40 25 – 35 25 – 30 20 – 25 15 – 20
Rate

- Work of breathing
o Nasal flaring
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o Expiratory grunting
▪ This is exhalation against a closed glottis that occurs in babies to provide
PEEP and prevent alveolar collapse in expiration
o Tracheal tug
o Sternal, intercostal and subcostal recession
o Head bobbing
- Chest
o Scars
o Shape
▪ Pectus excavatum/carinatum
▪ Harrison’s sulcus
▪ Asymmetry of movement

Palpation

- Chest expansion
- Tracheal deviation, but only if the child is very cooperative
- Location of apex beat

Percussion, but this is rarely useful in infants

- Hyper-resonant in bronchiolitis and asthma

Auscultation, changes tend to resonate throughout the chest in infants so signs are difficult to
localise

- Fine crackles ± wheeze throughout indicates bronchiolitis

Cardiovascular Examination

Closer inspection

- CRT
- Cyanosis of tongue
- Clubbing
- Pulse
o Rate, rhythm, and volume
o Femoral pulse (may be lacking/ delay present in aortic coarctation), can leave to the
end
o Difference between central and peripheral

<1 1–2 2–5 5 – 12 >12

Heart Rate 110 – 160 100 – 150 95 – 140 80 – 120 60 – 100

- Respiratory distress
- Precordial bulge (cardiac enlargement)
- Ventricular impulse
- Scars (including abdominal scars, as this could represent pacemaker insertion)

Palpation
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- Thrills, heaves
- Apex beat (displacement in pectus excavatum, sinus invertus/dextrocardia, CCF etc.)

Auscultation (feel brachial pulse alongside)

- Heart sounds
o S2 may be physiologically split in inspiration
- Murmurs and radiation
o Left infraclavicular (PDA)
o Left infrascapular
o Carotids
o Axilla

Hepatomegaly, dependent oedema, and JVP should also be assessed

Abdominal Examination

Closer inspection

- Jaundice
- Cyanosis
- Clubbing
- Distention

Palpation

- Overall for masses, tenderness, and guarding

- Hepatomegaly (>2cm below the costal margin)
- Splenomegaly
- Kidneys
- Abdominal masses
o Wilm’s tumour does not cross the midline
o Neuroblastoma is firm, and may cross the midline
o Faecal mass is mobile, non-tender, and indentable
o Intussusception may have a palpable RUQ mass

Percussion and auscultation as in adults

Always inspect the genital area in infants, but in older children this is only performed where
relevant. Rectal examination is not routine.

Neurological Examination

In infants, the examination is different to in older children

- Inspection
o Appearance
o Conscious level
o Spontaneous movement and posture of all four limbs
o Posture at rest
o Muscle bulk
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- Assess the child’s ability to fix and follow (your face or a red object is best) while they are
settled
- Palpation
o Fontanelle
o Head circumference
- Handling/ tone
o Assessment of limb tone while the child is supine
o Pull to sit, and assess head lag and rigidity of back when seated
o Hold the baby upright to assess weight bearing on legs
o Hold the baby in ventral suspension to assess truncal tone
o Place the baby back down prone, and assess if they can left their head/chest
- Power has already been assessed by observing movement
- Reflexes
o Deep tendon as in adults
o Primitive
▪ Palmar grasp
▪ Plantar grasp
▪ Moro
▪ Asymmetric tonic neck
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Growth
Measurement of Growth

Children are regularly measured for three main reasons

1. As normal growth and development is a sign of a healthy child, abnormal growth can
indicate that there is an underlying condition
2. Measuring children allows an opportunity for health promotion with families
3. Regular measurement reassures parents

Stature in a population follows a normal distribution i.e. the 50th centile represents the height at
which 50% of children fall below it and 50% fall above it

Regular measurements include weight, height (<2 lying, >2 standing), and occipito-frontal head
circumference.

Growth Charts

Standard UK growth charts exist for height and weight, and are separate for girls and boys. These
were plotted by measurement of cross-sectional data of thousands of children at different ages at
one point in time

- Growth charts are matched for age, gender, health, nutrition, and (from >4 years) ethnicity
- Allowances are made for prematurity (<37 weeks’ gestation) for the first 2 years by plotting
actual age and then drawing an arrow to adjust to gestational age
o The adjustment is from weeks born before 40 weeks

Children tend to grow following a centile or parallel to a centile, therefore crossing centiles implies
excess growth or growth failure (including early and late puberty)

- Failure to thrive is defined as growth that crosses two centile lines on a growth chart. This is
an indication of ill health and should be investigated

Height velocity charts also exist, ideally heights are measured at least 6 months apart, and these
again follow a normal distribution. A child needs to grow with a height velocity above the 25th centile
to maintain their position on a linear growth chart

- Growth failure is therefore defined as a height velocity below the 25th centile over at least
18 months. This should be investigated

In addition to the above, a child following a centile line that is over 2.6 standard deviations away
from the mean (i.e. the 99.6th and 0.4th centiles) may also indicate illness, and should therefore be
investigated

- If the mid-parental height ((mother’s height + father’s height)/2 + 7cm for boys, - 7cm for
girls) is also >2.6 standard deviations from normal, there is likely to be no pathology

A marked discrepancy between height and weight centiles is also an indication to investigate further
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BMI and Weight

BMI is calculated as weight (KG)/ height (m)2

- Children are overweight if their BMI is >91st centile and very overweight if their BMI is >98th
centile
- Children are underweight if their BMI is <2nd centile

A low birthweight is defined as <2500g, a high birth weight is >4000g. A baby born light for dates has
a birthweight of <10th centile for their gestational age

Babies may lose up to 10% of their birthweight, but will usually re-gain this by 2 weeks. This is more
common in breastfed babies.

Normal Childhood Growth

Normal growth has four main phases

1. Foetal growth is determined by the size of the mother and by placental nutrient supply.
Hormones involved include IGF-2, HPL, and insulin
2. The infancy component involves rapid decelerating growth in the first 2 – 3 years. This
growth is determined by nutrition and is the fastest period of growth (other than foetal)
• The rate is around 18cm per year
3. The childhood component is the slowest phase of growth, from 2/3 years to puberty. This
growth is initially determined by nutrition, but later determined by hormones e.g. GH
• The rate is around 6cm per year
4. The pubertal growth spurt occurs from puberty to ~14/15 for girls and ~16/17 for boys,
stopping with the fusion of the epiphyses due to oestrogen. This is determined by both GH
and sex hormones
• The rate is around 10cm per year at its peak, this is typically at tanner stage III
breasts in girls and 12cc testicular volumes in boys

Growth is not just linear, but includes changes in body proportions. With age, the neck and limbs
lengthen, and the proportional size of the head decreases.

- Normal growth is dependent on genetic and hormonal factors, psychosocial and physical
health, and nutrition

Final height is largely determined by genes, and can therefore be predicted from mid-parental
height (in cm), this is the genetic growth potential. It is possible to determine which centile line a
child should be following using calculation of genetic growth potential and referencing a growth
chart

- Boy’s final height = (father’s height + mother’s height + 12.5)/2 ± 8cm confidence limits
- Girl’s final height = (father’s height + mother’s height - 12.5)/2 ± 8cm confidence limits

Hormonal Control of Growth

Growth hormone release is regulated by a hypothalamo-pituitary axis. The hypothalamus initiates

the axis by releasing somatostatin release inhibiting factor (SRIF) and growth hormone releasing
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factor (GHRF) in response to neurotransmitters, hypothalamic hormones, and other factors e.g.
food, sleep, stress, exercise

- SRIF inhibits release of GH from somatotrophs in the anterior pituitary, whereas GHRF
promotes release of GH from somatotrophs
- GH has a direct effect on promotion of growth on bone, and stimulates IGF-1 production in
the liver
o IGF-1 is the main effector hormone for growth, and stimulates proliferation of the
epiphyseal growth plate
- SRIF, GH, and GHRF have negative feedback on the hypothalamus. GH and IGF-1 have
negative feedback on the pituitary

Short Stature

Short stature is height >2 standard deviations from the mean (below the second centile). The
commonest causes of short stature are familial short stature and constitutional delay. However,
other more worrying causes can include

- Primary growth disorders, where there is an intrinsic growth plate abnormality

o Genetic syndromes e.g. Down’s, Turner’s, Russell-Silver
o IUGR with failure to catch up
o Congenital bone disorders e.g. osteogenesis imperfecta, achrondroplasia
- Secondary growth disorders, where there is an underlying condition, presenting as FTT
o Psychosocial deprivation
o Malnutrition e.g. neglect, malabsorptive disease, anorexia
o Chronic disease of any form
▪ Height centile > weight
o Endocrine disorders e.g. GH/IGF-1 deficiency, steroid excess, hypothyroidism
▪ Weight centile > height, or height and weight both affected
o Medication e.g. steroids

Examination and Investigation

Firstly, there should be examination of the child’s growth chart and calculation of genetic growth
potential

- If the child is small, but following centile lines, consider: familial short stature, low
birthweight, constitutional delay, and skeletal dysplasias
- If there is failure to thrive, consider: endocrine causes, chronic illness, nutritional issues,
and psychosocial deprivation

There should then be full history and examination

- History should assess

o Obstetric history e.g. prenatal complications, gestation, birthweight
o Feeding history and nutritional history
o Developmental milestones
o Family history of growth patterns
o Systems review for underlying chronic disease
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- Examination should look for dysmorphic features (chromosomal disorder),

disproportionality of short stature (skeletal dysplasias), signs of chronic disease, signs of
endocrine causes, and pubertal stage

If there are no features of disease, and the child is following their genetic growth potential, review in
12 months and calculate growth velocity. If this is reduced, investigate

If there are features of disease, or the child is not following their genetic growth potential, some
investigations may be required

X-ray of wrist and hand This can identify bone age, which has a marked delay in
(used as carpal bones ossify hypothyroidism and GH deficiency. There is a moderate delay in
at different ages) constitutional delay, and no delay in familial short stature
FBC Anaemia may occur in coeliac/IBD
U&Es Renal disorders
Bone Profile Renal and bone disorders
TSH Hypothyroidism
Karyotype Tuner’s syndrome and other chromosomal disorders
EMA and TTG antibodies Coeliac
CRP/ESR Inflammatory bowel disease
GH provocation tests (using GH deficiency
insulin/glucagon/clonidine
to mimic stress)
IGF-1 measurement Disorders of the GH axis
Dexamethasone Cushing’s
suppression test
MRI head Indicated if there are neurological signs to exclude intracranial
tumour
Skeletal Survey Scoliosis

Constitutional Delay

Constitutional delay in growth and puberty is familial, and usually has occurred in the parent of the
same sex. This is more common in males

- The legs with be proportionately long, relative to the back

- Growth charts will be low initially, and then cross centile lines at puberty to a normal
final height. Familial short stature will be low throughout.

Rather than an abnormality, it is a variation in the normal timing of puberty and the child will reach
normal height. However, it can be psychologically distressing and if this is the case, the onset of
puberty can be induced with androgens or oestrogens

Growth Hormone/ IGF-1 Deficiency

Growth hormone deficiency may be an isolated deficit, or it may be secondary to pan-

hypopituitarism. It can also be due to Laron syndrome (defective GH receptors), or disorders of the
GH-IGF1 axis

- Causes of pan-hypopituitarism include craniopharyngioma, head trauma, meningitis,

and cranial irradiation
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Children will have a markedly delayed bone age

Growth hormone deficiency is treated with subcutaneous injections of GH (also indicated in IUGR
with growth failure, Turner’s, and renal failure). This improves muscular strength and body
composition as well as vertical height

- Discontinue when the child reaches their final height, or if their growth velocity
increases by <50% from baseline in the first year of use

Failure to Thrive

Failure to thrive is the term used to describe sub-optimal weight gain in infants and toddlers. This is
indicated by crossing >2 centile lines on a growth chart.

It can be classified into organic and non-organic causes

- Non-organic failure to thrive is associated with a broad spectrum of psychosocial and

environmental deprivation, including inadequate availability of food
- Organic causes include
o Inadequate intake due to impaired suck/swallow, cleft palate
o Inadequate retention due to vomiting and GORD
o Increased nutritional requirements due to chronic illness in general
o Failure to utilise nutrients e.g. syndromic disorders
o Impaired nutrient absorption

Accurate growth charts, history and examination are important in establishing cause. But there
should be consideration of investigating organic causes.

Management is directed at underlying cause, but there should also be involvement of the
multidisciplinary team to provide support and recommend strategies for increasing energy intake.
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Development
Normal Childhood Development

Development through the first few years of life is assessed regularly to identify, and where possible,
give therapy for any condition that produces a delay in the achievement of milestones

- Development can also be impaired if the environment fails to meet the child’s physical or
psychological needs

Developmental screening is universal, and occurs opportunistically any time a child is within a
healthcare setting. Developmental assessment differs to this, and is the detailed analysis of
development that occurs following screening if there is an issue

- Child health surveillance occurs alongside this as the ‘healthy child program’. This is
immunisation, health promotion and developmental screening provided in primary care to
all children

There are four key areas of development, however deficiency in one area can impact on other areas.
The development within each area tends to be sequentially correct (always consider what has come
before and what lies ahead), but varies in rate between children

When considering milestones, there are two ages to consider

- The median age is when 50% of a standard population of children will achieve the milestone
- The limit age is the limit by which the milestone should have been achieved, these are
usually 2 standard deviations from the mean
- If a child fails to achieve a milestone by this age, there may be a need for more
detailed assessment, investigation ± intervention

If a child has been born pre-term (before 37 weeks’ gestation), then there should be adjustment of
milestones for gestational age up to 2 years old.

Milestones

Gross Motor Median Age Limit Age

Raises head to 45 when prone 6 – 8 weeks 4 months
Sits without support 6 months (round back) 9 months
8 months (straight back)
Rolling 4 – 5 months
Crawling 8 – 9 months
Cruising 10 months 12 months
Walking unsteadily 12 months 18 months
Walking steadily 15 months

Fine Motor and Vision Median Age Limit Age

Follows moving object 6 weeks 3 months
Reaches out for toys 4 months 6 months
Palmar grasp 4 – 6 months
Transfers toys between hands 7 months 9 months
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Pincer grip 10 months 12 months

Tower of 3 blocks 18 months
Writing, cutting, dressing 2 – 5 years

Hearing, Speech, and Language Median Age Limit Age

Startles to loud noises Newborn
Vocalises, coos and laughs 3 – 4 months 7 months
Turns to soft sounds out of sight 7 months

Repetitive consonant sounds 7 months 10 months

Sounds used discriminately to mean 10 months
parents
2/3 words 12 months
6 – 10 words. Shows parts of body 18 months 18 months (6 words with
meaning)
Uses 2+ words as phrases 20 – 24 months 2 years
Talks in 3 – 4 word sentences 2.5 - 3 years 2.5 years (3 word sentence)

Social, Emotional, and Behavioural Median Age Limit Age

Smiles responsively 6 weeks 8 weeks

Puts food in mouth 6 – 8 months
Waves bye-bye, plays peek-a-boo 10 – 12 months
Drinks from a cup 12 months
Holds a spoon and brings to mouth 18 months 18 months
Symbolic play 18 – 24 months 2 – 2.5 years
Dry by day, pulls off clothing 2 years
Parallel play, takes turn 2.5 – 3 years 3 – 3.5 years

Primitive Reflexes

The Moro reflex occurs when there is sudden extension of the head, leading to a symmetrical
extension and abduction followed by adduction of the arms

- This may be absent at birth in severe asphyxia

- Asymmetric Moro reflex indicates injury on one side or differential tone
- Moro persisting >3 months can indicate cerebral palsy

Palmar grasp is the flexion of fingers when an object is placed in the palm

- This is absent in prematurity of <34 weeks

- Asymmetric reflex indicates injury or altered tone
- Persistence past 4 months (particularly with thumb adduction) may be a sign of cerebral
palsy

Rooting is where the head turns towards a stimulus when touched near the mouth

- This is absent in prematurity of <34 weeks and in severe asphyxia

- Asymmetric reflex indicates facial palsy
- It may persist past 3 months in cerebral palsy
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The asymmetric tonic neck reflex occurs when the baby is lying supine and the head is turned to one
side, the arm will outstretch on the side where the head is turned and the opposite arm will flex

- This is absent in prematurity of <36 weeks and severe asphyxia

- Asymmetric reflex indicated hemiparesis cerebral palsy
- Persistence of the reflex past 3 months indicates quadriparesis cerebral palsy

The placing limb reflex is where the infant produces stepping movements when help vertically, and
the dorsum of the feet touch a surface

The startle reflex is where there is a loud noise, the baby will flex their elbows and clench their
hands

- This should persist through life

Reflexes in neonates are brisk when crying and decreased when asleep. Therefore, it is best to elicit
them when they are awake-alert or fussing.

These primitive reflexes gradually disappear as postural reflexes develop

- Labyrinthine righting – head moves in opposite direction to which the body is tilted
- Postural support – when held upright the legs take weight and may push up (bounce)
- Lateral propping – in sitting the arm extends to the side they are falling to right them
- Parachute – when suspended face down the arms extend to save themselves

6 Weeks

In terms of gross motor development

- The infant should be able to lift their head, but not chest, off a flat surface (prior to 6 weeks
there is infantile head lag)
- The primitive reflexes should all still be present. These will gradually disappear over the first
few months as postural reflexes develop

In terms of fine motor and vision the baby should stare, and follow an object horizontally to 90
degrees (turning the head). Prior to this, babies can only follow objects in the midline.

In terms of hearing, speech and language the baby should be startled by loud noises

In terms of social, emotional and behavioural development the baby should be smiling responsively

- If the baby is not smiling by 8 weeks, this is a red flag

3 Months

In terms of gross motor development, the infant should be able to lift its head and chest off a flat
surface, it should also be able to recognise its own hands (finger play)

- Abnormal tone is a red flag

In terms of fine motor development, it should be able to hold a rattle, and follow an object
horizontally to 180 degrees. At 4 months, they should be starting to reach out for toys
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- Not fixing and following an object is a red flag

In terms of hearing speech and language the baby should be turning to sounds and vocalising

- Vocalising involves making vowel sounds when alone or spoken to, they may also laugh

In terms of social, emotional and behavioural development the baby should be able to recognize its
mother

6 Months

In terms of gross motor development, the child should be able to sit supported, with a rounded back
(the back should be straight at around 8 months). It should now be able to weight bear on its feet,
and may be able to roll onto its front

- At this stage, a red flag would be the persistence of primitive reflexes, as postural reflexes
are beginning to appear

Fine development includes reaching out, palmar grasp and transferring objects from hand to hand

In terms of hearing speech and language the infant should be laughing, screaming, and babbling with
consonants. At 7 months, they should be turning to soft sounds out of sight

- A red flag is the absence of vocalisation

In terms of social, emotional and behavioural development the baby should be able to express likes
and dislikes. They should also be able to chew and put food in their mouth; this is important as
babies should be weaned at about 6 months, as at this point breast milk alone will be nutritionally
inadequate

- Babies > 6 months should be able to chew, but they should be started on pureed food (non-
wheat cereals, fruit and veg, low salt and sugar) and then move on to soft solids. Cow’s milk
can be introduced at 6 months, but shouldn’t be given alone until 1 year
- This period of time may be associated with increased crying and poor sleeping

9 Months

In terms of gross motor development, the child should be able to stand supported, and will be
crawling/ creeping/ bum-shuffling

- Crawling is variable, some children may never crawl and may ‘creep’, ‘commando crawl’ or
‘bum-shuffle’. Typically, bottom shufflers will walk later
- Coasting will generally start at 10 months, and the child will pull to stand
- A red flag here would be the inability to sit unsupported

Fine motor development should involve bringing objects together, they may have an immature
pincer grip

- A red flag would be the inability to transfer objects from hand to hand, or showing hand
preference
- Children should not show a dominant hand until over 2 years. Before this stage, it
could show a weakness in one side of the body e.g. cerebral palsy
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In terms of hearing speech and language the infant should be able to respond to its name, and be
making repetitive sounds e.g. dada, mama indiscriminately

In terms of social, emotional and behavioural development the baby should be able to hold a bottle,
wave, play peek-a-boo, and clap

1 Year

In terms of gross motor development, the child should be standing unsupported, walking unsteadily
(broad based gait, with hands apart), and pulling themselves upright

- A red flag is the inability to weight bear on their feet

Fine motor development should include throwing objects away, scribbling with a crayon, and the
development of a mature pincer grip (starting at around 10 months)

- A red flag is the absence of pincer grip

In terms of hearing speech and language the infant should be able to respond to familiar words, and
use a few words (2-3) with meaning

In terms of social, emotional and behavioural development they will be starting to develop stranger
anxiety, and will be able to drink from a cup using two hands.

18 Months

In terms of gross motor, they should be able to walk backwards and walk upstairs with one hand
held. They should be able to stoop to pick up an object, and recover

- A red flag would be the inability to walk independently

Fine motor should involve the ability to build a tower of 3 – 4 bricks, and should be able to turn book
pages

In terms of hearing speech and language the infant should be able to point to and identify their eyes,
nose and mouth. They should have 25 – 50 words, but understand many more

- A red flag would be the inability to say 6 words with meaning

In terms of social, emotional and behavioural development they will be able to take off their shoes
and socks. They should be using symbolic play, and should be able to bring a spoon to their mouth

- At 18 months, children will usually start indicating if they need the toilet. Therefore, parents
can start to think about toilet training

2 – 2 ½ Years

Gross motor development should include running, jumping with two feet, and kicking a ball

Fine motor development should involve being able to copy a drawing of a line, and build a tower of 7
cubes
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In terms of hearing speech and language the infant should be using 50+ words, and speaking in 2 – 3
word sentences

- A red flag is having very few words, and not pointing to named objects

In terms of social, emotional and behavioural development they may be dry during the day (it is
important to ask about toilet training), and will be able to play alone. They will usually be able to pull
off their clothes, and feed themselves with a spoon/fork

- Poor attention is a red flag

3 Years

Gross motor should include climbing stairs one step per foot, standing on one leg, and pedalling on a
tricycle

Fine motor should include threading beads, building a 9 cube tower, making a three brick bridge
with a gap, and copying drawings of circles. From 3.5 years they may be able to draw a face

- A red flag is the inability to draw a straight line

In terms of hearing speech and language the infant should know their name and age, be able to
count to three, and should be asking questions.

In terms of social, emotional and behavioural development they should be dry by day, and may
going to the toilet on their own, and using a knife and fork

- If they are solitary, this is a red flag

4 Years

Gross motor should involve the ability to hop on one foot and kick a ball

Fine motor includes being able to copy a picture of a cross and drawing recognisable faces. They may
be able to draw a full stick man

- A red flag would be an inability to stack 9 cubes or copy a circle

In terms of hearing speech and language the infant should have fluent speech, be able to respond to
instructions, and be asking lots of questions

- A red flag is unintelligible speech

In terms of social, emotional and behavioural development they should be dressing without
supervision, brushing teeth and carrying out imaginative play.

5 Years

Gross motor should include skipping, riding a bike, and walking heel-toe and backward heel-toe

Fine motor should include copying a square and a triangle, and drawing people with many features

- A red flag would be the inability to copy a cross

Hannah Cooke, 2016/17

In terms of hearing speech and language the infant should be able to read a few words, count to 10,
and use complex grammar

- A red flag is if they do not know colours or letters

In terms of social, emotional and behavioural development they should be playing in groups,
comforting others, and be able to tie their shoelaces.

Developmental Assessment

When assessing development, concentrate on each field in turn and consider it longitudinally

- Ask about the sequence of skills achieved, and determine the level the child has reached for
each skill field
- Relate the progress of each developmental field to the others, are they progressing at the
same rate through all fields
- Relate the developmental age to the chronological age

The short-cut approach to developmental assessment is to concentrate on the most actively

changing skills for the child’s age e.g. gross motor during the first year, fine motor from >12 months,
HSL from >18 months, and SEB from >2.5 years.

These peaks in development can help guide initial questioning when assessing a child

- <18 months: begin questioning about gross motor, vision and hearing, and then hand skills
- 18 months – 2.5 years: begin questioning about speech and language, hand skills, and only
briefly ask about gross motor
- 2.5 – 3.5 years: begin questioning about speech, language, social and behavioural
development

While discussing development with the parents, observe the child in play with suitable toys e.g.
building blocks. Observation is the most important part of the assessment

- Try to start with the area that the child is already engaged in
- Take out toys from the development box in turn, try not to show the child the other toys
before you are using them for the assessment or they will become distracted

Where developmental age does not match post-term chronological age, there is developmental
delay. The degree of developmental delay can be expressed by the developmental quotient

- DQ = Developmental Age/ Post Term Age x 100

Hannah Cooke, 2016/17

Nutrition
Baby

As the rate of growth in infancy is high but nutritional stores at this stage of life are low, it is
essential for babies to have optimal nutrition

- A baby of 0 – 3 months should have a calorie intake of 100 kcal/kg/day

- This should then decrease to 95 kcal/kg/day up to 12 months

Where babies are undernourished, this typically has an impact on neuronal development.

Babies will typically lose <10% of their body weight over the first 7 days of life, and then steadily gain
weight (decreasing in velocity from 200g/week up to 3 months to 50g/week at 12 months)

Ideally, infants should be exclusively breast fed up to 6 months. However, infants who are not
breastfed require formula feeds, these are usually modified cow’s milk protein preparations with
added iron and vitamins A, C, and D

- This should be made with boiled cooled tap water at 30ml to 1 level scoop. Equipment
should be sterilised prior to preparation
o Making the milk stronger than this risks constipation, dehydration, and
electrolyte imbalance
- Soya formulas are not recommended before 6 months due to high oestrogen content

Two month old babies will usually eat around 150ml/kg/day of breast or bottle milk. Per feed a baby
will usually have 4 – 5oz of milk

Age Frequency/day Amount Volume

0 – 2 months 6 – 10 2 – 4oz 800ml
3 – 5 months 6–7 5 – 6oz 1050ml
6 – 8 months 5–6 6 – 8oz Varies depending on solids

Solid foods should not be introduced prior to 4 months as infants have an immature gut and
swallow. Food should be home prepared with no added sugar or salt. The baby should sit upright to
eat, and eating with their hands is best. They should never be left alone while eating, and parents
should eat with the baby to lead by example

- Baby led weaning is recommended, where the soft food is chopped to finger size and the
baby can pick it up and interact with it by putting it in their mouth and set their own pace.
Another option for baby led weaning is to give the baby themselves the spoon, and they can
explore with the spoon
- Baby led weaning encourages hand-eye coordination
- Do not put food in the baby’s mouth or try to persuade them to eat more than they
want. The key is to let the baby set their own pace
- Traditional spoon feeding can be used alongside this, but is less convenient

First foods should be a balanced diet of proteins, carbohydrates, fats, fruits and soft cooked
vegetables. Full fat dairy products and cow’s milk can be used in cooking at this point
Hannah Cooke, 2016/17

- A cup can be introduced with drinking water from 6 months, a fully breastfed baby doesn’t
need extra drinks as long as they can breastfeed when they want

From 8 – 9 months the baby will usually be eating 3 meals a day, and not require frequent breast or
bottle feeds at this point

- Usually a balanced diet of soft finger foods is best, but the baby can explore with cutlery

Babies should not eat honey, salt, sugar, raw shellfish, or raw eggs before one year. They should not
eat whole nuts before the age of five due to the risk of choking. Gluten products and nut products
should not be given before six months due to allergy and intolerance risk

- Honey can lead to infantile botulism

- If the parent has allergy or atopy, they should be more cautious in introducing allergens.
Staging of food introduction is important

It is important not to introduce solids too late as this is associated with feeding difficulties and
nutritional deficiencies.

Pre-School Children

Children over 1 year should be eating what the family eats, but it is important to provide a balanced
diet

- As they have small stomachs but high energy requirements, regular small meals are best
- All children should take multivitamins (A, D & E) up to the age of 5

At one year the baby can start to drink full fat cow’s milk. Usually their meals will consist of

- Three to four servings a day of starchy food such as potatoes, bread and rice
- Three to four servings a day of fruit and vegetables
- Two servings a day of meat, fish, eggs, dhal or other pulses (beans and lentils)

All pregnant women under <18, and pregnant women receiving income support or job seekers
allowance all qualify for the healthy start scheme

- Women get vouchers that enable them to purchase healthy foods from participating
supermarkets, this equates to £6.20 per child. Every 8 months they also get vitamin
vouchers
- Children’s vitamins include vitamins A, C and D. These are given from >6 months
- Women’s vitamins include folic acid, vitamin C and vitamin D

The aim of this is to incentivise eating healthy food, and help reduce the socioeconomic discrepancy
in diet

Malnutrition

Malnutrition should be assessed by looking at the patient’s dietary intake, anthropometric

calculations (e.g. height, weight, MUAC, skin-fold thickness), and by carrying out laboratory
investigations to detect physiological adaptation to malnutrition

- Low albumin, WCC, and low mineral concentrations indicate malnutrition

Hannah Cooke, 2016/17

A wrinkled appearance to the axillae and wasting of the buttocks are an indication of recent weight
loss in children

Marasmus is caused by protein-energy malnutrition; this is a <70% weight predicted for height.

Kwashiokor is caused by protein malnutrition, this leads to oedema and wasting. Weight may not be
severely reduced

Obesity

For children under the age of 12, the definition of obesity differs from the general population

- Obese is a BMI >98th centile, with very severe obesity >99.6th (>3.5 standard deviations from
the mean) BMI of the UK 1990 reference chart for age and sex
- Overweight is defined as >91st centile
- In children over 12 overweight BMI is >25, obese >30, and very severe obesity >40

Prevention of obesity should be encouraged by decreasing fat intake, increasing intake of fruit and
vegetables, reducing time spent in front of small screens, and increasing exercise

Management of obesity should be focussed on making small gradual lifestyle changes to maintain
weight so that the child can ‘grow in to’ their weight

- This should include 60 minutes’ physical activity per day, decreasing portion size,
discouraging snacking, and cutting out fizzy drinks

If children are severely obese or have complications from their obesity may benefit from drug
treatment including orlistat and metformin. Bariatric surgery should not be considered until a young
person has achieved maturity
Hannah Cooke, 2016/17

Abnormal Development
Abnormal development is usually identified following developmental assessment. There are many
associated terms used to describe different developmental patterns

- Delay is a slow acquisition of skills

- Disorder is a maldevelopment of a skill

The pattern of abnormal development can be slow but steady, plateau, or regression. Often, delay
becomes more apparent with increasing age, as the gap between normal and abnormal increases

Global Developmental Delay

Global developmental delay implies delay in acquisition of all skill fields, usually becoming apparent
within the first 2 years of life

- This is likely to be associated with cognitive difficulty in later life

Potential causes of global developmental delay are summarised below

Prenatal
Genetic Chromosome/DNA disorders e.g. Down’s, fragile X
Neurological Cerebral dysgenesis e.g. microcephaly, migration disorder
Neurocutaneous syndromes e.g. tuberous sclerosis, NF1
Vascular Haemorrhage
Metabolic Hypothyroidism, PKU
Teratogenic Alcohol and drug abuse in pregnancy
Congenital infection Rubella, CMV, HIV, toxoplasmosis
Perinatal
Extreme prematurity Periventricular haemorrhage
Birth asphyxia Hypoxic ischaemic encephalopathy
Metabolic Hypoglycaemia, hyperbilirubinaemia (kernicterus)
Postnatal
Infection Meningitis, encephalitis
Anoxia Suffocation, near-drowning, seizures
Trauma Head trauma
Metabolic Hypoglycaemia
Vascular Stroke

Investigation into global developmental delay can involve the following

- Blood tests: routine (FBC, U&Es, LFTs), metabolic blood tests (TFTs, bone profile), genetic
and chromosomal analysis, congenital infection screen
- Imaging: cranial USS, CT/MRI brain scans
- Other: EEG, muscle biopsy

Severe Learning Difficulty

Severe or profound learning difficulties (IQ <50) usually become apparent in infancy as global
developmental delay
Hannah Cooke, 2016/17

- Most will have an organic cause, as above

Abnormal Motor Development

Abnormal motor development will usually present between 3 months and 2 years, as this is the
period of most rapid motor skill acquisition

- Delayed milestones and early hand dominance (asymmetry of motor skills before 18
months) are indications that there may be an underlying motor disorder

Delay in motor acquisition is most commonly a simple variation of normal, and is often familial
delayed motor maturation. More rarely, there are worrying causes

- Abnormalities in muscle tone and power

- Central motor deficit e.g. cerebral palsy
- Congenital myopathy/ primary muscle disease e.g. muscular dystrophy
- Spinal cord lesions e.g. spina bifida
- Environmental factors e.g. malnutrition, rickets, post-natal infection/trauma

Red flags with motor delay include

- Poor head control or floppiness at 6 months

- Unable to sit unsupported at 9 months
- Not weight bearing through legs at 12 months
- Not walking at 18 months
- Not running at 2 years, or persistent toe walking

It is important to consider if motor delay is isolated, or occurring as part of a broader developmental

delay.

Examination is mostly neurological including tone, reflexes and plantar response. There should also
be an attempt to get the child to walk, assessing standing and weight bearing

Delayed Speech

Abnormal speech and language development will usually present between 2 – 4 years. Delayed
speech may simply be primary speech and language delay, this can sometimes need active
intervention to improve speech but is generally self-limiting. There are other secondary causes of
speech delay however, which may require further investigation

- Articulation difficulties e.g. cleft lip, tongue-tie, neurological disease (CP, DMD)
- Deafness
- Environmental deprivation and neglect
- Communication difficulties e.g. autism

These disorders can include problems with comprehension, expression, phonation, pragmatics, and
communication skills

Red flags with speech delay include

- No double syllable babble at 1 year

Hannah Cooke, 2016/17

- <6 words or persistent drooling at 18 months

- No 2 – 3 word sentences by 2.5 years
- Speech remains unintelligible to strangers by 4 years

It is important for children with delayed speech to perform a thorough assessment of hearing. The
symbolic toy test and Reynell test can be used to assess language development in very young and
preschool children respectively.

Autism

Autistic spectrum disorders (pervasive developmental disorders) are neurodevelopmental conditions

characterised by the following 3 features

- Abnormalities in reciprocal social interactions

- Speech and language disorder
- Restricted, stereotyped, repetitive behaviour, interests and activities

Children with Asperger’s syndrome have mild social impairments but near-normal speech and
language.

For a diagnosis of autism at least one of the following features must be present before the age of 3

Reciprocal social Failure to use eye-to-eye gaze, facial expression, lack of gestures
interaction Lack of relationships with peers
Inappropriate lack of response to other people’s emotions
Lack of interest to share hobbies, achievements or emotions
Poor understanding of humour
Communication Delay in spoken language
Difficulty initiating or sustaining conversation
Odd intonation, inappropriate volume of speech
Echolalia
Idiosyncratic use of words or phrases
Behaviour, Preoccupation with at least one pattern of interest
interests, and Compulsive adherence to rituals and routine, violent tantrums if disrupted
activities Concrete play with poverty of imagination
Unusual movements e.g. tiptoe gait, hand flapping, spinning

Clinical presentation of ASD can be in infancy or early childhood

- As a baby there may be little interaction with mother, poor feeding, and limited
speech/motor development
- From the age of 1 – 3 the features in the table above may be seen

Patients with autism have a variable IQ, but the majority are <70. Many have epilepsy alongside this

There are many aspects to the management of autism, but the most important is behavioural
modification e.g. applied behavioural analysis (ABA), which helps with development of language
skills and reduces difficult behaviours

- This requires ~30 hours of individual therapy per week, and does not increase the likelihood
of independent functioning in adulthood
Hannah Cooke, 2016/17

Hearing Impairment

Parents are provided with a hearing checklist, to help them identify when there may be a problem
with their child’s hearing. Parental concern based upon this warrants further assessment

- From birth the child should startle at sudden noise

- By 1 month they should notice sudden prolonged sounds
- By 4 months they should quieten and notice the sound of their mother’s voice, and may turn
to sound
- By 7 months they should turn to noises across the room
- By 9 months they should listen attentively to everyday sounds, and quiet sounds out of sight
- By 12 months they should be recognising familiar words

The investigations needed to assess hearing loss in children differ dependent on age

- 0 – 12 months: otoacoustic emissions (an earphone produces a sound, which leads to an

echo if the cochlea is normal) or auditory brainstem response (EEG to auditory stimuli)
- 7 – 18 months: distraction testing (the baby locating and turning towards sounds)
- 18 – 30 months: cooperation testing (the baby is rewarded for turning towards sound with
e.g. a toy)
- 3 – 5 years: pure tone audiometry, as in adults

Hearing loss may be sensorineural or conductive

- Sensorineural loss is largely genetic. However, some peri-/postnatal factors can cause it e.g.
hypoxia, prematurity, hyperbilirubinaemia, meningitis
o Amplification of sound with hearing aids or cochlear implants is beneficial in most
o This is less common, and cannot usually be reversed
- Conductive hearing loss is much more likely to be acquired e.g. otitis media with effusion,
Eustachian tube dysfunction
o Treatment is usually conservative. If there is no improvement, amplification or
surgery can be used
o This is more common, and usually reversible
o Certain syndromes predispose to Eustachian tube dysfunction and conductive
hearing loss e.g. Down syndrome, cleft palate, Pierre Robin sequence, mid-facial
hypoplasia

Any child with delayed language, speech, learning difficulties or behavioural problems should have
their hearing examined
Hannah Cooke, 2016/17

The Febrile Child and Infections

Fever

Most febrile children have mild, self-limiting illness. However, it is important to consider the
following factors during assessment

- How was fever identified by parents? In a child <4 weeks a thermometer should be placed in
the axilla, whereas in those >4 weeks an infrared tympanic thermometer can be used
- Are there risk factors for infection e.g. recent foreign travel, illness of other family members
- How ill is the child based on A to E assessment? Red flags include
- Fever >39 (or >38 in a child under 3 months)
- Pale, mottled, or blue skin
- Features of meningism
- Respiratory distress
- Bile-stained vomiting
- Shock
- Is there a rash?
- Is there a focus for infection?

Assessment

A to E assess the child. Based upon these observations, categorise them into green, amber or red
Hannah Cooke, 2016/17

Differential Diagnosis

There are many potential causes of fever. It is important to consider the following

- URTI, including otitis media and tonsillitis

- LRTI
- Meningitis or encephalitis
- UTI
- Gastroenteritis
- Osteomyelitis or septic arthritis

Life-threatening emergencies that should always be considered in the febrile child include
meningitis, septicaemia, encephalitis, toxic shock syndrome, and necrotising fasciitis.

Management

Any child with red features, or amber features with no diagnosis, should be referred to hospital for
paediatric specialist assessment

If the child is <3 months, fever is most likely due to bacterial infection. Unless the cause is clear there
should be a septic screen and IV antibiotics

- Septic screen includes FBC, CRP, blood and urine cultures ± CXR, stool cultures, and LP
- Any infant <1 month with fever should have a LP

If the child is >3 months, the above investigations should be considered dependent on clinical signs

Fever and Rash

There are many potential causes of fever alongside rash in children

- Maculopapular rash
- Viral: parvovirus, HHV6/7, enterovirus
- Bacterial: scarlet fever (group A strep), rheumatic fever, typhoid fever
- Other: Kawasaki disease, JIA
- Vesicular bullous, and pustular rash
- Viral: VZV, HSV
- Bacterial: impetigo, staphylococcal scalded skin
- Petechial or purpuric rash
- Bacterial: meningococcal or other sepsis
- Other: Henoch-Schonlein purpura, vasculitis

Kawasaki Disease

Kawasaki disease is characterised by a prolonged fever, lasting >5 days. Diagnosis is clinical, requiring
3 essential criteria include (high fever, persistent and not responding to antipyretics) alongside 4/5
clinical criteria

- Non purulent conjunctivitis

- Oral mucositis
- Cervical lymphadenopathy
Hannah Cooke, 2016/17

- Erythema of hands and feet. Extremities can become swollen and red, and start to peel
- Rash, due to acute vasculitis. There can also be coronary artery aneurysms

There will be raised inflammatory markers, and thrombocytosis. Treatment is urgent, with IVIg and
aspirin to reduce the risk of aneurysm and thrombosis

- It is important to do a baseline ECG

Exanthema

Exanthema is a widespread macular rash that occurs in children with some viral conditions, this
typically appears as fever wanes (roseola infantum, pityriasis rosea)

- Common causes include HHV6 and HHV7, as well as parvovirus B19

Infection with parvovirus typically causes fever and malaise alongside a ‘slapped-cheek’ rash. Rarely
it can lead to aplastic crisis, this is usually in those with immunodeficiency or haemolytic anaemia

Toxic Shock Syndrome

TSS occurs as a reaction to toxins produced by staphylococcal or group-A streptococcal infections. It

is suggested by fever >39, hypotension and a diffuse erythematous macular rash

- The toxin can also lead to mucositis, diarrhoea and vomiting, renal and liver impairment, and
clotting abnormalities

Management is with antibiotics. It is important to be aware that desquamation of the palms and
soles will follow after around 2 weeks.

Common/ Important Childhood Infections

Measles

Measles is characterised by fever, sore eyes and lips, Koplik’s spots in the mouth, and rash that starts
behind the ears, spreading across the face and onto the trunk

- Conjunctivitis, coryza, cough and Koplik’s spots are the first signs. The rash will follow this
- Temperature will rise in a step-wise fashion up to 5 days, before decreasing
- Cough persists beyond the other signs

Patients are highly infectious during the two-week incubation period, and early in the symptomatic
period.

Complications of measles can include otitis media, pneumonia, convulsions, encephalitis (including
late subacute sclerosing encephalitis), and blindness.

Rubella

Rubella in children presents as a mild illness with fever, cervical lymphadenopathy, and a pink
macular rash. The issue with rubella is that it can cause serious consequences in congenital infection
of pregnant women in the first trimester
Hannah Cooke, 2016/17

- Congenital rubella syndrome complications include deafness, cataracts, learning disability,

and heart disease

Mumps

Mumps is a viral disease. Typical presentation is painful swelling of the parotid salivary glands
alongside fever

- If the infection occurs in young men/puberty, there can be orchitis and complications such
as subfertility
- Other complications include deafness, meningoencephalitis and pancreatitis

Diphtheria

Diphtheria is an URTI caused by a bacterium. It causes sore throat, swollen tonsils leading to ‘bull
neck’, low grade fever, and results in pseudo-membrane formation (affecting the nose, pharynx and
larynx potentially causing airway obstruction)

- Can also get myocarditis, renal disease, and peripheral neuropathy (paralysis) from the
release of an exotoxin

Polio

Polio is a viral infection. The vast majority of cases have no symptoms, but there can be aseptic
meningitis, generalised fever, aches, and D&V

- In 0.05% of cases, there can be muscle weakness (legs and diaphragm) due to inflammation
of the myelin sheath and consequent inability to move (infantile paralysis)

Bordetella Pertussis

Pertussis (whooping cough) is a highly contagious bacterial infection of the respiratory tract

- It is endemic, with epidemics occurring every 3-4 years

It causes an initial catarrhal phase with rhinitis, followed by a paroxysmal phase lasting 3 – 6 weeks.
This consists of a paroxysmal spasmodic cough, apnoea, and inspiratory whoop, which may be
followed by vomiting. Seizures can also occur

- These symptoms may persist for months and can lead to bronchopneumonia, weight loss
and cerebral hypoxia due to apnoea
- There is lymphocytosis

Close contacts of the patient should receive erythromycin prophylaxis. However, once the
paroxysmal phase of disease is reached, erythromycin does not improve symptoms.

Tetanus

Tetanus is bacterial infection releasing a toxin that causes prolonged contraction of skeletal muscle
fibres, this begins in the jaw and neck before spreading systemically

- In neonates, this can be acquired through umbilical cord stump

- Treatment is with tetanus immunoglobulin
Hannah Cooke, 2016/17

Malaria

Malaria presents with recurring fever, rigors, and GI upset. Later presentation can be with
complications such as AKI, ARDS, convulsions and neurological sequelae.

It should be considered in every patient with fever returning from a malaria-endemic area,
regardless of prophylaxis

- In the UK, plasmodium falciparum (most severe, African) and vivax (Asian malaria) are the
commonest
- Diagnosis is based upon Giemsa staining of a blood film

Treatment is with chloroquine or quinine sulfate

HIV/AIDS

HIV in children is most commonly as a result of vertical transmission, which can occur in utero,
during labour, or during breast feeding. However, it may also be contracted as a result of blood
transfusion or sexual abuse

- In most children, without treatment, there is a rapid onset of AIDS

Typical signs of AIDS in children include hepatosplenomegaly, lymphadenopathy, global

developmental delay, and recurrent infection

Diagnosis in children >18 months is with detection of HIV antibodies, and before 18 months is with
HIV RNA (as maternal antibodies will still be circulating)

Reduction in vertical transmission can be achieved with the use of antenatal retroviral drugs, aiming
for an undetectable viral load at the time of delivery

- If viral load is detectable at term, there should be caesarean delivery

Infants with HIV positive mothers should not be breast fed.

Scarlet Fever

Scarlet fever results from infection with group A beta-haemolytic strep that produces an
erythrogenic toxin

- The child presents with sore throat and fever, followed by the appearance of characteristic
mucocutaneous signs

- Erythematous coarse-textured rash on the neck and shoulders, spreading to the

trunk and limbs
- Circumoral pallor
- White strawberry tongue

Diagnose on the basis of a throat swab and manage with penicillin. A potential complication of this is
post-streptococcal glomerulonephritis
Hannah Cooke, 2016/17

Rheumatic Fever

Rheumatic fever is a consequence of infection with group A beta-haemolytic strep. It presents

around 3 weeks following a sore throat with symptoms including

- Arthritis: migratory arthritis of large joints

- Carditis: pancarditis leading to valvular heart disease
- Sydenham’s chorea

Diagnosis is based on the Jones criteria, including the above major criteria alongside evidence of
strep infection as well as fever/raised inflammatory markers/ECG changes

Childhood Immunisations

Timing Vaccinations
2 months 5-in-1 (tetanus, diphtheria, pertussis, polio, Hib)
Pneumococcus
Rotavirus
3 months 5-in-1
Meningococcus-C
Rotavirus
4 months 5-in-1
Pneumococcus
12 – 13 months Hib/MenC
Pneumococcus
MMR
2, 3 & 4 years Flu
3 years 4 months Tetanus, diphtheria, pertussis, polio
MMR
Girls 12 – 13 years HPV
14 years Tetanus, diphtheria, polio
MenC

BCG (at birth) and hepatitis B (at birth, 1, 2, and 12 months) vaccinations are given to those at risk

Herd immunity occurs at 90 – 95% vaccination; this is essential to protect children <2 months that
have not yet been vaccinated

- There is no adjustment for prematurity

Parents should be warned of the complications of vaccination before they consent

- Swelling and discomfort at the injection site

- Mild fever and malaise. This can be relieved by paracetamol, but if it persists for more than
24 hours, parents should seek medical advice
- With measles and rubella patients may get mild disease (rash and swollen glands) 7-10 days
post-immunisation. The rash should be checked in general practice
- Anaphylaxis is very rare
- Pertussis can give a big swelling
Hannah Cooke, 2016/17

- Controversy regarding MMR & autism/IBD has been discredited. This was based upon a
study in 1998 that was published in the Lancet by Andrew Wakefield. The scare surrounding
the MMR vaccine dropped uptake of the vaccination programme (particularly in higher
socioeconomic classes), and lead to an increase in cases of measles and mumps, which is
only just decreasing now

All vaccines are contraindicated in those who have had a confirmed anaphylactic reaction to a
previous dose of a vaccine containing the same antigens or to another component contained in the
relevant vaccine

- Egg allergy only contraindicates the influenza vaccines

Live vaccines may be temporarily contraindicated in individuals who are immunosuppressed (but
MMR is okay in children with HIV) or pregnant

Vaccination should be postponed if the child has an acute illness (febrile), is immunocompromised,
or has an evolving neurological condition (until it has resolved or stabilised)

- This is to avoid wrongly attributing any new symptom or the progression of symptoms to the
vaccine

If the vaccine is delayed at one point, the schedule should be delayed from that point onwards.
Minor infection with no fever/systemic upset is not a contraindication to vaccination, vaccines can
still be given if a child has had a febrile convulsion
Hannah Cooke, 2016/17

Assessment of Acutely Ill Children

Paediatric Vital Signs

<1 1–2 2–5 5 – 12 >12

Heart Rate 110 – 160 100 – 150 95 – 140 80 – 120 60 – 100
Respiratory 30 – 40 25 – 35 25 – 30 20 – 25 15 – 20
Rate
SBP 70 – 90 80 – 100 80 – 100 90 – 110 100 – 120
Urine Output 2 ml/kg/hr 1.5 ml/kg/hr 1.5 ml/kg/hr 1 ml/kg/hr >0.5 ml/kg/hr

Recognising a Critically Ill Child and A to E Assessment

Children are vulnerable to serious illness due to many varied anatomical and physiological factors

- Narrow airway, high chest wall compliance (recession and indrawing), low blood volume,
large BSA:weight ratio

There are many factors that can indicate that a child is seriously unwell, but this is best assessed
using an A to E approach alongside resuscitation

- This rapid primary assessment should take place in <1 minute

Airway

Airway assessment should assess the patency of the airway

- If the child is crying or talking, then their airway is patent

- Assess the airway using a look, listen, feel approach
- Check for stridor, drooling, or extension of the neck
- These factors indicate that the airway is patent but deteriorating

The airway in a small child is narrower than in an adult due to the relative increased size of the
tonsils and tongue, and decreased size of the mandible

- Infants <6 months breathe solely through the nostrils (obligate nasal breathing), which can
become easily blocked with secretions or blood

Important factors in airway management include

- Head positioning
o Do not perform a head tilt in infants <12 months, aim for neutral position by lifting
the chin
o In a child, position the head in a ‘sniffing the morning air’ position i.e. half head-tilt
- Airway adjunct
o Insert a guedel airway directly using a tongue depressor in children <8 to avoid
damage to the palate
o Nasopharyngeal airways should be avoided as there is a high risk of adenoidal
bleeding
- Call for senior help
Hannah Cooke, 2016/17

o ET intubation should be shallow, as the trachea is much shorter. The ETT should also
be un-cuffed, to avoid damaging the epithelium; therefore an NG tube must also be
passed
o Needle cricothyroidotomy should be used as an alternative to surgical
cricothyroidotomy

Breathing

Breathing assessment should look at the following. If there is any distress, administer high-flow
oxygen

- Effort of breathing: respiratory rate, accessory muscle use, nasal flare, child’s position e.g.
neck held in extension
- Mild distress: nasal flaring with intercostal recession
- Moderate distress: head bobbing, subcostal recession, noisy breathing, and tracheal
tug
- Severe distress: sternal recession, exhaustion
- Absent (very worrying): exhaustion, central respiratory depression, neuromuscular
disease
- Efficacy of breathing: inspiratory stridor, expiratory wheeze, grunting
- Effects of breathing: chest expansion, air entry, pulse oximetry. Also assess the heart rate,
skin colour and mental status

Management of breathing should involve administration of appropriate oxygen, and support with
bag-valve-mask as necessary

- Children <12 months should be ventilated with a different bag-valve-mask to those >12
months
- Nasal cannulae are the preferred method of delivering oxygen in children
- 0.5 – 1 L/min for neonates
- 1 – 2 L/min for infants
- 1 – 4 L/min for older children
- Increase oxygen delivery as in adults, but often nasal high flow/ head box oxygen is used as
an alternative to face masks

Circulation

Circulation and cardiovascular assessment

- Heart rate and pulse volume, feeling central and peripheral pulse simultaneously (nb: HR of
60 = indicates cardiac arrest in infants)
- An infant’s central pulse is brachial or femoral, peripheral pulse is radial. Brachial is
recommended for HR measurement
- In children central pulse is carotid or femoral, peripheral pulse is radial. Carotid is
recommended for HR measurement
- Central capillary refill time (usually on the forehead)
- Blood pressure, this is less important than capillary refill in paediatrics as it will
decompensate late
- Normal SBP ~ 70 + (age in years x2) – 90 + (age in years x2)
- Attach 3 lead ECG monitoring
- Heart sounds
Hannah Cooke, 2016/17

- Urine output
- Look for effects of circulatory inadequacy e.g. skin colour, temperature, mental status

Children are very susceptible to fluid loss as they have a higher surface area to volume ratio and
metabolic rate. Signs of shock in children differ between early and late stages of presentation

- 5% dehydration is clinically detectable

o Oral rehydration solution is sufficient for this
- 10% dehydration is clinical shock, but hypotension indicates >15% dehydration

Clinical Dehydration Clinical Shock

Tachypnoea* Slow CRT
Tachycardia* Weak peripheral pulses
Altered responsiveness* Cold extremities
Sunken eyes and fontanelle* Pale/mottled skin
Reduced skin turgor* Absent urine output
Dry mucous membranes Hypotension
Decreased urine output

If there is <10% dehydration without the * features, give fluids as oral rehydration solution

Maintenance fluids in children are prescribed based upon body weight.

Body Weight Fluid Requirement/24hr Volume/kg/hr

First 10kg 100 ml/kg 4 ml/kg/hr
Second 10kg 50 ml/kg 2 ml/kg/hr
Subsequent kg 20 ml/kg 1 ml/kg/hr

- An adolescent that weighs 42kg requires 1000 + 500 + 440ml (1940ml) at 40 + 20 + 22ml/hr
(82ml/hr)

Fluid deficit should be corrected by giving either IV fluid or ORS depending on the level of fluid loss,
this is given alongside maintenance fluid

- Weight (kg) x % fluid loss x 10 = fluid deficit, aim to replace this within 4 hours

Children are difficult to cannulate due to their small veins and large proportion of subcutaneous fat.
Therefore, in an emergency, move rapidly to IO access where there are failed cannulation attempts

- Fluid should be given in 20ml/kg boluses of crystalloid (25% of circulating volume). If after
two fluid boluses there is inadequate response, escalate care
o In trauma give 10ml/kg to reduce bleeding risk
o In DKA give 10ml/kg to reduce the risk of cerebral oedema

Disability

Disability assessment is focussed on looking at conscious level

- AVPU
- Pupillary size and reactivity
- Muscle tone and posture
Hannah Cooke, 2016/17

- Check blood glucose

- In hypo give 2ml/kg 10% glucose

The Glasgow coma scale is only applicable to children >4 years old; for those younger than this, the
children’s coma scale is used

- This is identical to the Glasgow coma scale, other than the verbal response

Smiles, orientated to sounds, follows objects, interacts 5

Fewer than usual words, spontaneous irritable cry but settles 4
Cries continuously, inconsolable 3
Moans to pain 2
No response to pain 1

Exposure

Exposure should involve checking for

- Skin signs such as rashes, bruises, and swellings

- Core temperature (rectal)

T and ENT

In children, ENT and tummy should always be assessed. This is particularly important where a child
has a fever

Resuscitation Doses

For resuscitation in children, use the WETFLAG approach

- Weight
o <12 months: (age in months/2) + 4
o 1 – 10 years: (3x age in years) + 7 OR (age in years + 4) x2
- Energy
o 4 joules/kg
- Tube
o Diameter: (age/4) + 4
o Length: (age/2) + 12
- Fluids
o Resuscitation: 20ml/kg
o Maintenance: As above
- Lorazepam
o 0.1mg/kg
- Adrenaline
o 0.1ml/kg of 1:10,000 (10mcg)
- Glucose
o 2ml/kg of 10% dextrose

Paediatric Trauma

The approach to trauma in children is largely the same as in adults, with the same priorities of care
Hannah Cooke, 2016/17

- The <C>AcBCDE approach should be used to stabilise in all cases

Always consider NAI in childhood trauma

Paediatric trauma differs to adult trauma due to the anatomical and physiological differences
between children and adults. This includes

- A smaller body mass, with closer positioning of organs, means that more energy is
transferred as a result of blunt trauma and the likelihood of severe injury is higher
- Children have a smaller circulating volume, and therefore become shocked more rapidly
- The skeleton is more flexible, and therefore there can be significant organ damage in the
absence of overlying fractures

Paediatric Life Support

Basic Life Support

Cardiac arrest in children is rarely due to ischaemic heart disease, rather hypoxaemia or circulatory
failure, which can often be prevented by early intervention

- Hypoxaemia can result from obstruction (foreign body, status asthmaticus) or respiratory
depression (convulsions, poisoning, raised ICP)
- Circulatory failure can be due to fluid loss (blood loss, burns, vomiting) or fluid
maldistribution (sepsis, anaphylaxis)

Where paediatric patients are in cardiac arrest, the approach is similar to in adults

1. Check responsiveness
2. Open airway and look, listen, and feel for a maximum of 10 seconds to assess breathing
• Where the patient is not breathing, open their mouth and remove any obvious
obstruction
• Give 5 rescue breaths (in infants, place your mouth over their nose and mouth),
gently blowing for 1 – 1.5 seconds
3. Assess for signs of life
• Look for any movement
• Feel for a central pulse for a maximum of 10 seconds
• A pulse rate of <60bpm should be considered cardiac arrest in children
4. Perform chest compressions and rescue breaths in a 15:2 ratio, at a rate of 100 – 120bpm
• For infants use two thumbs over the lower third of the sternum, or use the tips of
two fingers
• For small children use the heel of one hand over the lower third of the sternum
• For large children perform compressions as in adults

Advanced Life Support

Following assessment of airway and breathing, if the patient is unresponsive and not breathing the
following steps should be taken

1. Shout for help, ask someone to put out a 2222 call and return with the resus trolley
2. Commence chest compressions unless bag-valve-mask immediately accessible
Hannah Cooke, 2016/17

3. Ventilate using bag-valve-mask until intubation can be performed

• ET tube sizing can be estimated based upon age
• Tube diameter = (age/4) + 4
• Tube length = (age/2) + 12
4. Commence CPR
• Chest compressions to rescue breaths at a rate of 15:2
• Continuous compressions where the child is intubated
5. Establish IV access, or IO access
6. Attach defibrillator and follow ILS algorithm
Hannah Cooke, 2016/17

Cardiology
Common congenital heart lesions and their main presenting complaint are summarised below

Left-to-right shunt Breathless VSD

PDA
ASD
Right-to-left shunt Cyanotic Tetralogy of Fallot
Transposition of great vessels
Eisenmenger Syndrome
Common mixing Breathless and Cyanotic AVSD
Outflow obstruction Asymptomatic with murmur Pulmonary stenosis
Aortic stenosis
Outflow obstruction Neonatal collapse with shock Aortic coarctation
Hypoplastic left heart

Congenital heart disease can often be attributed to teratogens, maternal disorders, or chromosomal
abnormality

- Rubella infection, SLE and diabetes in the mother can all lead to heart defects
- Warfarin and alcohol are cardiac teratogens
- Down syndrome (AVSD, VSD), Turner’s syndrome (coarctation), and many others

In order of prevalence VSD, ASD, PDA, tetralogy of Fallot, AVSD, and coarctation are the commonest
defects.

Innocent Childhood Murmur

A murmur is an abnormal heart sound produced as a result of turbulent blood flow. An innocent
murmur is benign and physiological, occurring in up to 50% of children

There are several key features that suggest an innocent murmur

- Soft, and beginning well after the first heart sound. No thrill and no radiation
- Always systolic
- Usually maximal at the lower left sternal edge
- Heart sounds are normal

Patients will be asymptomatic, and the murmur will often come and go (including with change in
position)

Another innocent murmur that often occurs in childhood is a venous hum

- This is a supraclavicular continuous murmur, that peaks in diastole

- It disappears with compression of the internal jugular vein.

Heart Failure

Heart failure in paediatric patients presents similarly to in adults. Additional signs and symptoms
include recurrent chest infections and poor feeding
Hannah Cooke, 2016/17

Likely cause differs dependent on age

- In neonates it is often due to obstruction e.g. hypoplastic left heart, aortic stenosis,
coarctation
- In infants it is due to high pulmonary blood flow e.g. VSD, ASD, PDA
- In children it is due to either Eisenmenger syndrome or cardiomyopathy

Eisenmenger’s syndrome occurs where there is an initial left-to-right shunt, the pulmonary vascular
resistance increases to compensate resulting in the later development of a right-to-left shunt

- This typically presents in adolescence with cyanosis

- Heart and lung transplant are the only curative options

Left-to-Right Shunts

Ventricular Septal Defects

VSDs lead to a left-to-right shunt, resulting in breathlessness. This usually presents after the first
week of life, as pulmonary vascular resistance falls

- In larger VSDs there can also be failure to thrive and recurrent respiratory infection

Patients with a VSD have differing signs, dependent on the size of the defect. In general, the larger
the defect the softer the murmur

- A small VSD will lead to a harsh pan-systolic murmur at the left sternal edge. The patient will
have no signs of heart failure
- A large VSD will lead to a soft systolic murmur at the left sternal edge. Signs of heart failure
will be present e.g. tachycardia, gallop rhythm, cardiomegaly, hepatomegaly

Investigation is with ECG, CXR and echocardiography (left ventricular dilatation)

Surgical repair may not be required for a small muscular VSD, as this will close on its own as the
heart grows. Large VSDs will require medical management up to the point of surgical repair at 3 – 4
months, this can be trans-catheter repair in most cases

- Management is as for heart failure; fluid restriction, diuretics, and ACE inhibitors
- Patients should be put on a high caloric diet

Atrial Septal Defects

Secundum ASDs are defects of the centre of the atrial septum, involving the foramen ovale.
Typically, these are asymptomatic or present with breathlessness, but patients may have recurrent
chest infections or wheeze

Signs include

- Ejection systolic murmur at the upper left sternal edge

- Fixed and widely split S2 (delayed closure of pulmonary valve)
Hannah Cooke, 2016/17

Investigation is with ECG (RBBB), CXR (enlarged heart and pulmonary vasculature), and
echocardiography (right ventricular dilatation).

Management is with surgical repair, which can be via cardiac catheterisation in most cases. This is
usually performed at about 3 – 5 years’ old

Persistent Ductus Arteriosus

The flow across a PDA is from the aorta into the pulmonary artery. Most children are asymptomatic,
and picked up on screening

- The murmur is continuous (through systole and diastole) and beneath the left clavicle

Investigation should include ECG, CXR and echocardiogram. Management is with closure via a coil or
occlusion device at around 12 months, this is inserted via cardiac catheter

Common Mixing

AVSD

Primum atrial septal defects are atrioventricular septal defects

- Partial AVSDs will have an apical pansystolic murmur. These require open heart surgery to
correct, usually at 3 years

Complete AVSDs most commonly occur in patients with Down syndrome. These patients will be
cyanosed at birth due to a single 5-leaflet valve between the atria and ventricles

- There is no murmur, but the lesion is usually identified on routine echocardiography in the
neonate with T21
- Surgical repair usually takes place at 3 months, prior to this treat heart failure medically

Complex Congenital Heart Disease

Tricuspid atresia is the commonest complex congenital heart disease, where only the left ventricle is
effective

- Both systemic and pulmonary venous return are into the left atrium, resulting in common
mixing

There can be initial surgery to insert a shunt, connecting the subclavian artery to the pulmonary
artery to ensure blood flow to the lungs, helping cyanosis. Later surgery involves connection of the
SVC to the pulmonary artery, meaning that venous pressure supplies blood to the lungs

Outflow Obstruction

Heart failure and shock in the neonatal period can indicate severe outflow obstruction

- In all cases, prostaglandin should be commenced at the earliest opportunity to maintain a

PDA, and referral to a cardiac centre for early surgery is required
Hannah Cooke, 2016/17

Coarctation of the Aorta

Coarctation is due to duct tissue encircling the aorta at the point of insertion of the duct, therefore
as the duct closes the aorta constricts. This creates an obstruction to left ventricular outflow

- Presentation is usually with acute circulatory collapse when the duct closes at day 2
- Femoral pulses are absent, and there will be severe metabolic acidosis

Hypoplastic Left Heart

In hypoplastic left heart syndrome there is underdevelopment of the left heart, meaning that
systemic circulation is dependent on flow through the ductus arteriosus

- This presents and is managed in the same way as coarctation, although all peripheral pulses
will be absent

Cyanosis

Cyanosis occurs where there is >5g/100ml of deoxygenated haemoglobin, and becomes apparent
clinically where SaO2 <85%

There are many potential causes in the newborn, alongside congenital cyanotic heart disease

- Respiratory disorders e.g. surfactant deficiency, meconium aspiration, pulmonary hypoplasia

- Persistent pulmonary hypertension of the newborn
- Infection
- Metabolic acidosis and shock

Where cyanosis occurs due to congenital heart disease it will be unresponsive to oxygen. Patients
will be more cyanotic on exertion e.g. crying, and will have a normal CO2 on ABG.

- The hyperoxia (nitrogen washout) test can be used to determine the presence of heart
disease in a cyanosed neonate. The infant is given 100% oxygen, but right radial PaO2 will
remain low

Tetralogy of Fallot

Tetralogy of Fallot is the commonest cause of cyanotic congenital heart disease. It presents with
cyanosis, low oxygen saturations and murmur in the post-natal period

- Signs include clubbing, and characteristic features on auscultation

- Harsh ejection systolic murmur at the left sternal edge due to pulmonary stenosis
- Soft second heart sound

It is a syndrome that develops due to the superior aspect of the ventricle diverting to the right when
growing down to meet the inferior aspect. As the two halves of the ventricle do not meet there is a
VSD, the superior aspect of the septum creates a right ventricular outflow tract obstruction and pulls
the aortic valve over creating an overarching aorta. The VSD leads to high right ventricular pressures
and causes right ventricular hypertrophy, as the ventricular pressures equalise there is right-to-left
shunting and cyanosis.
Hannah Cooke, 2016/17

Tetralogy of Fallot can be summarised as

- Non-restrictive ventricular septal defect (allowing the ventricular pressures to equalise)

- Over-riding aorta
- RVOT obstruction
- Right ventricular hypertrophy

Investigation should include ECG (RVH), CXR (boot shaped heart) and echocardiography.

Initial management is medical. Definitive treatment is with closure of the VSD and relief of the RVOT
with placement of a graft between the right ventricle and pulmonary artery at around 6 months

- There will be chronic pulmonary regurgitation as a result of this, this is tolerated in

childhood but will progress to right ventricular failure (monitoring of the right ventricle is
with annual cardiac MRI) and is therefore repaired when features of this start to become
apparent

If TOF is not detected in infancy there will be failure to thrive and dyspnoea, a common feature is
squatting after exercise

- Hypercyanotic spells may occur in TOF

o Patients are restless, hyperpnoiec, cyanosed, and can lose consciousness
o Treatment is to place the child in a knee-to-chest position and give oxygen, beta
blockers, and morphine

Transposition of the Great Vessels

Patients with transposition will have profound and life-threatening cyanosis, this usually presents on
day 2 of life when ductal closure leads to a reduction in mixing of saturated and desaturated blood

- Patients usually only have S2, and may have a systolic murmur

CXR will show a narrow upper mediastinum and increased pulmonary vascular markings. ECG and
echocardiogram should also be performed.

In the neonatal period patients should be given prostaglandin to increase patency of the ductus
arteriosus. In some patients, it may be necessary to perform an early balloon atrial septostomy to re-
open the foramen ovale

- All patients will require surgery in the early neonatal period to correct the defect (arterial
switch)

Murmurs

Ejection systolic murmurs

- Aortic stenosis: aortic area, carotid radiation

- Pulmonary stenosis: pulmonary area, radiation to back
- ASD: pulmonary area, split S2
- ToF: left sternal edge

Pan systolic murmurs

Hannah Cooke, 2016/17

- VSD: tricuspid area

- Mitral regurgitation: mitral area, radiation to axilla
- Partial AVSD: mitral area

Diastolic murmurs

- Mitral stenosis
- Aortic regurgitation
- ASD and VSD flow murmurs

Continuous murmurs

- Venous hum: below clavicle, disappears when occluded

- PDA: below left clavicle, radiation to back
- Co-arctation: loudest at left lower sternal edge
Hannah Cooke, 2016/17

Gastroenterology and Surgery

Food Allergy and Intolerance

Food allergy occurs when a pathological immune response is mounted against a specific food
protein, this is usually IgE mediated

- This can range from urticaria, angioedema through to anaphylaxis

Non-IgE mediated food allergy also exists, this is an allergy several hours after ingestion and involves
the gastrointestinal tract

- This presents with diarrhoea, vomiting, and abdominal pain. It can lead to failure to thrive
- An example of this is FPIES (food protein-induced enterocolitis syndrome)

Food intolerance is a non-immunological hypersensitivity reaction to a specific food. Management

should involve elimination followed by reintroduction, the elimination will increase the tolerance to
the food

- The reactions are delayed and symptoms may take several hours/days to appear, symptoms
may persist for several days
- With intolerance the patient will be able to tolerate a certain amount of the food, but not if
there is excessive or over-frequent consumption the reaction may occur
- Causes of intolerance include enzyme defects (e.g. lactose intolerance),

Diagnosis of IgE mediated allergy can follow skin-prick and RAST testing. Diagnosis of non-IgE
mediated allergy is more difficult, and can involve colonic biopsy showing eosinophil infiltration into
the mucosa

Gastro-Oesophageal Reflux

Most babies undergo some form of physiological reflux; this involves the regurgitation (posseting) of
a small amount of stomach contents following feeding

- This is common due to a baby’s predominately fluid diet, mainly horizontal posture, and
short intra-abdominal oesophagus

Pathological reflux is an important cause of significant disease

- Failure to thrive
- Aspiration e.g. apnoea, recurrent pneumonia, wheeze
- Reflux oesophagitis leading to pain, bleeding, dysphagia and strictures
- ATLE

Investigation into children with pathological reflux can include barium swallow and 24-hour pH
studies

- It is important to note that GORD may be associated with extra-intestinal disease e.g.
neurological dysfunction
Hannah Cooke, 2016/17

Management strategies include thickening of foods and upright positioning after feeds, prokinetic
agents (metoclopramide, domperidone), PPIs, and surgery in resistant cases

Vomiting

Vomiting is very common in infants and children, and has many potential causes

- In infants, it is important to consider the following

o Infection e.g. gastroenteritis, URTI/LRTI, UTI, meningitis, whooping cough
o Intestinal obstruction e.g. pyloric stenosis, malrotation, atresia
o Inborn errors of metabolism, CAH
- In in children consider
o Infection, as above
o Obstruction, particularly foreign body
o Dietary intolerances

Bile-stained vomit is a red flag

Vomiting that is projectile in young infants is a strong indication of pyloric stenosis (hypertrophy of
the pylorus causing obstruction)

- Biochemistry will indicate a hypochloraemic metabolic acidosis with a low plasma sodium
and potassium
- Management involves fluid resuscitation, correction of electrolytes and acid base followed
by definitive treatment with pyloromyotomy

Diarrhoea

Toddler Diarrhoea

Toddler diarrhoea is a syndrome where patients have chronic non-specific loose stools

- The stools are of varying consistency, and often contain undigested food

Affected children will be well and thriving, and the likely cause is an underlying maturational delay in
intestinal motility. Most will grow out of the condition by age 5

- Management is dietary; ideally reducing snacking, cutting down on fruit juices, and intake of
refined carbohydrates.

Hypernatraemic Dehydration

Normally dehydration in children is isonatraemic, as fluid losses are proportional therefore plasma
sodium remains in normal range

- If the child has a high oral fluid intake to compensate for losses, there can be development
of hyponatraemia, but this is rare

Hypernatraemic dehydration tends to occur if there are additional high insensible fluid losses
alongside diarrhoea e.g. fever. This causes an extracellular shift of fluid, meaning that dehydration is
less clinically obvious
Hannah Cooke, 2016/17

- This can be dangerous due to cerebral shrinkage. This presents with increased tone,
hyperreflexia, altered consciousness, seizure, and cerebral haemorrhage

Constipation

Constipation is a common symptom in healthy infants, and usually resolves with time and extra
fluids

- If faeces is palpable on examination, it is best to give a 2 week course of stool softener, or

where this is not successful, enema

Some children experience constipation as a result of psyshcological distress. This forced retention of
faeces distends the rectum, removing normal sensation and leading to involuntary soiling

- Regular post-prandial visits to the toilet, and reward charts can treat this. It is important to
give the child encouragement and support

Hirschprung’s Disease

Hirschprung’s disease results from an absence of the ganglion cells in the myenteric plexuses of the
rectum and colon

- This impairs normal peristalsis, and leads to intestinal obstruction

The commonest presentation is neonatal obstruction with meconium. In milder cases, it can present
in childhood with chronic constipation. Diagnosis is by suction rectal biopsy showing a lack of
mesenteric nerves

Management is with colostomy, and later reversal – anastomosing normal bowel to the rectum.

Abdominal Pain

Always examine the testis in a male child presenting with abdominal pain. In all children, also
examine the hip joints, lung bases and hernial orifices.

Red flags

- Distention
- Guarding
- Tenderness ± rebound
- Ileus
- Vomiting that is billous or faeculant
- GI bleeding

Differential diagnoses include

Surgical Medical
Appendicitis Mesenteric adenitis
Obstruction (including ileus) Gastroenteritis
Hannah Cooke, 2016/17

Hernia Renal pathology (UTI, stones, hydronephrosis)

Peritonitis Henoch-Schlonein purpura
Diverticulitis DKA
Pancreatitis Sickle cell
Trauma (including NAI and sexual abuse) Hepatitis
IBD
Constipation
Recurrent abdominal pain

Mesenteric Adenitis

Mesenteric adenitis presents with non-specific abdominal pain, often accompanied with respiratory
tract infection with cervical lymphadenopathy

- Diagnosis can only be made definitively in children where large mesenteric nodes are seen
on laparotomy or laparoscopy

Intussusception

Intussusception is the invagination of proximal bowel into a distal segment, most commonly of the
ileum into the caecum

- This leads to acute intestinal obstruction

- Peak age of presentation is 3 months to 2 years

Characteristic features are those of obstruction (constipation, bilious vomiting, distension, pain),
alongside the infant drawing their legs upwards, palpable sausage-shaped abdominal mass, and the
passage of ‘redcurrant jelly’ stool

Intussusception can be complicated by stretching of the mesentery leading to venous obstruction,

oedema and perforation

Management can be with fluid resuscitation as well as rectal air insufflation. Where air insufflation
fails, surgery is required to directly reduce the obstructing defect

Malrotation

Malrotation of the bowel occurs in foetal life, and leads to volvulus usually infancy (but can occur in
childhood)

- This is an incomplete rotation of the bowel during foetal development leading to the
formation of Ladd’s bands

There can be associated bowel infarction alongside obstruction

This presents in the first 3 days of life with abdominal pain and bilious vomiting, and requires urgent
surgical correction
Hannah Cooke, 2016/17

Recurrent Abdominal Pain

Recurrent abdominal pain is a very common symptom in paediatric patients, and an identifiable
organic cause is only identified in <10% of patients

- It is important to undertake a thorough history and examination. This usually reveals a non-
specific peri-umbilical pain and abnormalities with defaecation
- Investigations should only be carried out where indicated. This can include urinalysis, stool
culture, and amylase

Important causes that are functional and self-limiting include

- IBS
- Non-ulcer dyspepsia. Perform an [Link] breath test and eradication as required, PPIs are
often useful
- Abdominal migraine
- Bullying and psychosocial stress
Hannah Cooke, 2016/17

Respiratory
The smaller the child, the easier and quicker they are to develop respiratory failure. There are some
key factors in the history that indicate severe disease that may require hospital admission

- History of apnoea is a red flag, and always requires hospital admission

- Prematurity or need for neonatal care
- Temperature
- Shortness of breath

Bronchiolitis

Bronchiolitis is the commonest serious respiratory infection of infancy, usually affecting children
from 1 – 9 months’ age

- It is typically caused by RSV

- Other cases can be due to metapneumovirus, parainfluenza, rhinovirus, or adenovirus
o Co-infection of these viruses with RSV leads to severe disease

Infants with underlying lung disease e.g. bronchopulmonary dysplasia, cystic fibrosis are at highest
risk. These groups typically receive RSV vaccination

Presentation

The illness typically starts with coryzal symptoms alongside a sharp, non-productive cough (but wet
sounding due to URT secretions) with increasing breathlessness

- Parents will usually notice feeding difficulty due to breathlessness

- Symptoms generally last 10 days, with days 2 – 4 the worst

Examination can reveal hyperinflation of the chest with fine end-inspiratory crackles and expiratory
wheeze. Features of respiratory distress may also be present, and the liver may be displaced
downwards

Investigations

PCR analysis of nasopharyngeal secretions is used to identify the causative virus, this is usually
sufficient for diagnosis

- CXR can be performed, and will show hyperinflation ± mucosal plugging with segmental
collapse
- SpO2 measurement is recommended in primary and secondary care

CBG can be carried out if severe to assess the need for ventilatory support

Management

For management in the community, saline nasal drops alongside nasal suctioning can be used. It is
recommended that the baby sleeps propped up

- Feed little and often

Hannah Cooke, 2016/17

Admission to hospital is recommended for any child with <50% of their normal food/fluid intake, or
any child with SpO2 <92%

Management is supportive with humidified oxygen, escalating in accordance with saturation. Beta
receptors have not yet developed; therefore, salbutamol is ineffective

- NIV or full ventilation may be required in a few

- NG feeding is often required as there is a higher risk of aspiration in tachypnoea

Recovery is generally within 2 weeks. There may be recurrent cough and wheeze in some, but thre
are som complications

- Bronchiolitis obliterans leading to respiratory failure is very rare (most common with
adenovirus)
- Apnoea and respiratory failure
- Cardiac failure (cor pulmonale)

Cystic Fibrosis

CF is a multi-organ autosomal recessive disease caused by mutations on the CFTR gene (coding a
chloride ion transporter), usually F508 mutation of chromosome 7. It consists of the following
aspects

- High sodium sweat

- Pancreatic insufficiency
- Biliary disease, as bile is concentrated and causes plugging and local damage
- Gastrointestinal disease due to intraluminal water deficiency and viscous secretion
- Respiratory disease

Presentation

Most patients with CF are identified at the newborn blood-spot check, however there are many
patients in which screening failure occurs

- Perinatal presentation can be with bowel obstruction with meconium and prolonged
jaundice
- In infancy and childhood there is usually recurrent respiratory infection, steatorrhoea,
failure to thrive, and pancreatitis
- Later in life there can be male infertility, bronchiectasis, diabetes mellitus, cirrhosis and
portal hypertension, and atypical asthma

Nasal polyps and rectal prolapse may also occur

Malabsorption in CF is due to pancreatic insufficiency and biliary disease. It is more common for
patients to present with respiratory disease rather than malabsorption

- Patients may present with failure to thrive, diarrhoea, and pancreatitis

Signs on examination include finger clubbing, coarse crackles, and wheeze

Investigations
Hannah Cooke, 2016/17

Diagnosis can be with either of two main investigations

- Sweat testing for high chloride concentration (>60)

- Molecular genetic testing for CFTR

Imaging should include CXR/ CT thorax and sinus X-ray/ head CT as baseline, this can show
opacification of the sinuses

There should be sputum culture in all patients presenting with infection and at regular intervals

Management

Most of the problems with CF are associated with respiratory disease

- Chest physiotherapy for sputum clearance

- Antibiotics in acute exacerbations, usually IV. Prophylactic antibiotics are used in some
- Bronchodilators
- Reducing sputum viscosity with rhDNase or mannitol
- Lung or heart-lung transplantation should be considered for all patients with respiratory
failure

Pancreatic insufficiency can be managed with CREON and high calorie intake. Diabetes is managed
with insulin.

Osteoporosis risk should be reduced with calcium and vitamin D supplementation

Patients should be seen twice a year and have the following tests regularly

- Lung function tests, sputum cultures and CXR

- DEXA scan
- USS liver
- Blood glucose and vitamin D levels
Hannah Cooke, 2016/17

Rheumatology
Juvenile Idiopathic Arthritis (JIA)

JIA is the commonest chronic inflammatory joint disease in children defined as persistent joint
swelling >6 weeks’ duration in the absence of a defined cause presenting before the age of 16

There are many different subtypes with classification based upon the number of joints affected,
presence of RhF and HLA B27

- Persistent Oligoarthritis is the commonest form, and has a good prognosis. This affects <4
joints
- Extended Oligoarthritis spreads to affect >4 joints after the first 6 months
- RhF negative polyarthritis affects >4 joints in the first 6 months
- RhF positive polyarthritis is similar to rheumatoid arthritis, and has a poor prognosis
- Systemic arthritis presents with general malaise alongside a salmon-pink rash and
hepatosplenomegaly. Arthritis follows, and has a variable prognosis
- Psoriatic arthritis
- Enthesitis-related arthritis
- Undifferentiated arthritis

Knees, ankles, and wrists are the most commonly affected joints

Key features in the history include morning joint stiffness, pain, and gelling. Swelling is a common
finding on examination due to increased fluid, proliferation of the synovium, and swelling of the
periarticular soft tissues

- In the long term there may be bone expansion, which can lead to leg lengthening, valgus
deformity, and discrepancy of digit length

Complications include uveitis, joint contracture, growth failure, anaemia, osteoporosis, and
amyloidosis

Management of JIA should be carried out by a paediatric rheumatologist. Options include

- NSAIDs for symptom relief

- Intra-articular steroid injections, first-line for persistent Oligoarthritis
- Methotrexate is used in polyarthritis
- Systemic corticosteroids should be avoided where possible, but are used in refractory cases
- Biological agents are given in disease refractory to methotrexate

pGALS Examination

Ask the child/parent about pain, ability to dress, and difficulties in walking up and down stairs

First observe the child standing upright, ask them to be as straight as possible

- Check for asymmetry e.g. muscle bulk, swelling, wasting

- Look for skin changes and rashes
- Assess for joint deformity
Hannah Cooke, 2016/17

Assess gait, first normally then on the heels and then on tiptoe to look for the following

- Antalgic gait, or any suggestion of pain

- Rhythm of gait
- Excessive pronation
- Flat feet

For arms, first inspect from hands up to shoulders. Then ask the child to perform the following
movements

- Splay fingers
- Make a fist
- Finger opposition
- MCP squeeze
- Prayer and reverse prayer signs
- Raise arms straight above their head
- Look at the ceiling
- Put hands behind head
- Open your mouth and see if you can fit three fingers inside

For legs first inspect, and check for knee effusion. Then ask the child to perform the following
movements

- Hip internal, external rotation and flexion

- Extension and flexion of the knee

For spine inspect from the side and behind. Assess forward flexion.

Common significant findings include hypermobility, swelling, valgus, fixed flexion, scoliosis, and
rashes

Variations of Normal Posture

Genu varum (bow legs) is common in toddlers, and considered normal until >3 years

- Bowing of the tibia is pathological and can indicate rickets or osteogenesis imperfecta

In toeing has several potential causes, and can be normal from 1 – 2 years

- Metatarsus varus
o In infants this passively correctable by holding the heel in a normal position
o No treatment is needed unless >5 years and symptomatic
- Medial tibial torsion
o This will self-correct
- Persistent anteversion of the femoral neck, at the hip
o Children sit between their feet with the hips fully internally rotated (W sitting)
o This will self-correct by 8 years, but femoral osteotomy may be required if persistent

Out toeing is rare, if bilateral it is usually due to lateral rotation of hips and resolves spontaneously
Hannah Cooke, 2016/17

Toe walking is usually from habit

- Distinguish from mild cerebral palsy or tightness of the Achilles tendons or inflammatory
arthritis in the foot/ankle
- In boys exclude DMD

Torticollis (wry neck) is most commonly caused by a sternomastoid tumour (congenital muscular
torticollis)

- This presents with a mobile non-tender nodule in first weeks of life, felt in body of SCM. Can
have restriction of head turning and tilting of head.
o It usually resolves by 2-6m, passive stretching is advised but limited evidence
- If presenting later in childhood may be due to ENT infection, muscular spasm or spinal
tumour, C spine arthritis

Limp in Children

Acute Painful Limp Chronic Intermittent Limp

1 – 3 years Infection (osteomyelitis, septic DDH
arthritis) Cerebral palsy
Transient synovitis JIA
Trauma
Malignant disease
3 – 10 years Transient synovitis Perthes
Infection (osteomyelitis, septic DMD
arthritis) JIA
Perthes disease Tarsal coalition
JIA
Malignant disease
Trauma
11 – 16 years Trauma SUFE
SUFE JIA
Avascular necrosis of femoral head Tarsal coalition
Reactive arthritis
JIA
Infection (osteomyelitis, septic
arthritis)
Osteocondritis dissicans of knee
Malignancy

Genetic skeletal conditions

- Thantophoric dysplasia
o Causes stillbirth – large head, [Link] limbs, small chest, XR features, inheritance is
sporadic, may be identified on antenatal USS.
- Cleidocranial dystosis
o AD, absence of all or part of the clavicles and delay in closure of anterior fontanelle
and ossification of the skull
- Arthrogryposis
Hannah Cooke, 2016/17

o Heterogenous group of congenital disorders – stiffness and contracture of joints,

unknown cause, can be associated with oligohydramnios, congenital anomalies or
chromosomal disorders, usually sporadic.
o Flexion contractures, DDH, talipes equinovarus, scoliosis. Can be localised to just
UL/LL.
o Thin skin, subcutaneous tissue reduced and muscle atrophy around affected joints
o Management is with physiotherapy
- Osteopetrosis
o Rare, bones dense but brittle. Severe AD
o Can present with FTT, recurrent infection, hypocalcaemia, anaemia,
thrombocytopenia
o Poor prognosis, bone marrow transplant can be curative
- Marfan syndrome
o AD disorder – tall, arachnodactyly, hypermobile joints, high arched palate,
dislocation of eye lenses, severe myopia. Arm span>height, chest deformity,
scoliosis.
o Get aortic root dilatation, mitral valve prolapse, MR, aneurysm of aorta may
dissect/rupture. Echo monitoring needed.
Hannah Cooke, 2016/17

Urology and Nephrology

Testicular Torsion

Testicular torsion is most common in adolescents, but can occur at any age

- Any man with sudden onset lower abdominal or inguinal pain must have a scrotal
examination to exclude this
- Examination can reveal a swollen, tender, retracted testis with absent cremasteric reflex

Investigation can include USS with colour Doppler to determine arterial flow through the spermatic
cord. Surgical intervention should not be unduly delayed for investigation

- Surgery involves reducing the torsion manually, following by bilateral orchidopexy

Torsion must be relieved within 6 – 12 hours after the onset of symptoms, or there is a chance that
there will be necrosis of the affected testis

Cryptorchidism

4% of term males will have undescended testes at birth. When a patient <3 months old presents
with cryptorchidism there are two key factors that need to be established

1. Has the testicle ever descended i.e. is this undescent or retraction

2. Is this affecting one or both sides, as this determines the urgency of treatment
o If unilateral, re-check after 6/52 and again at 3 months
o If bilateral refer to exclude DSD

Examination of cryptorchid children should always take place in a warm room

- Examine the child lying flat, with their legs up in the air

If the testes is/are undescended at 3 months old, investigation is recommended.

- Routine blood tests as well as β-hCG, α-FP, and LDH to check for embryonal cell carcinoma
- USS of scrotum and inguinal canal
- MRI if the USS is inconclusive
- Exploratory laporoscopic surgery if the MRI is inconclusive, the testes are found by tracking
the vas deferens

It is important to treat cryptorchidism surgically. Where possible, orchidopexy is performed to bring

the testis down into the scrotum, via a laparoscopic or inguinal approach. Where orchidopexy
cannot take place, there should be orchidectomy to reduce the risk of malignancy

Complications of cryptorchidism include

1. Testicular cancer
2. If the testes cause pain it will be referred to the umbilicus, often resulting in mis-diagnosis of
appendicitis
3. Increased risk of torsion
4. Infertility, as the undescended testicle may die resulting in the production of antibodies to
normal testicular tissue and sperm
Hannah Cooke, 2016/17

Painful Foreskin

Balanitis

Balanoposthitis is a redness and inflammation of the foreskin, often alongside purulent discharge

- This usually responds to warm baths and broad spectrum antibiotics

Where the condition is recurrent, circumcision is recommended

Phimosis

Phimosis is seen as a whitish scarring of the foreskin, occurring due to localised balanitis xerotica
obliterans

- This results in a non-retractile foreskin, and can progress to cause meatal stenosis
- Treatment is with circumcision

A non-retractile foreskin does not necessarily indicate phimosis, at birth there are natural adhesions
between the glans and foreskin that separate with time

Congenital Renal Abnormalities

Congenital abnormalities are usually identified in utero by detailed USS, and can include

Abnormalities with the kidneys include

- Renal agenesis. This results in oligohydramnios and Potter sequence, which is fatal due to
intrauterine compression of the foetus
o Features include lung hypoplasia, talipes, and abnormal facies
- Multicystic dysplastic kidney results from the failure of union of the ureteric bud with the
nephrogenic mesenchyme, this means that urine cannot pass through the calyceal system
into the ureter, but rather collects as cysts
o Nephrectomy is indicated in children where the kidney does not subsequently
decrease in size
o This is usually unilateral, but if bilateral will result in Potter’s syndrome
- Polycystic kidney disease
o Autosomal recessive PKD results in uniform small cysts, whereas autosomal
dominant results in irregular cysts
- Pelvic/horseshoe kidney results from abnormal caudal migration, and predisposes to UTI

Abnormalities with the urinary tract include

- Duplex kidney results from premature division of the ureteric bud, this leads to the
formation of two ureters
o These ureters have abnormal drainage and can reflux or drain ectopically
- Bladder extrophy is an exposed bladder due to failure of fusion of the midline structures
- In prune-belly syndrome there is absent abdominal musculature, this is associated with a
large bladder, cryptorchidism, and dilated ureters
Hannah Cooke, 2016/17

- Obstruction to urine flow can be at the PUJ, VUJ, bladder neck or posterior urethral valves
(in males). This can result in unilateral or bilateral hydronephrosis, and lead to the formation
of a dysplastic kidney

Where a urinary tract anomaly is diagnosed antenatally, it is important to start prophylactic

antibiotics when the child is born for UTI

- If there is bilateral hydronephrosis in a male there should be USS within 48 hours of birth to
exclude posterior urethral valves. If this is present, surgery is recommended
o Further investigation into posterior urethral valves is with micturating
cystourethrogram, where contrast is introduced into the bladder via a urinary
catheter
- If the patient is female, or there is unilateral hydronephrosis there should be USS at 4 – 6
weeks, this is used to determine how to further investigate the infant

Enuresis

Primary nocturnal enuresis is the involuntary voiding of urine in the absence of any identified
physical disorder. The earliest age that this condition can be diagnosed is 5

- This may be nocturnal, diurnal, or mixed

- This may be a primary condition, in which the patient has never achieved continence, or can
be secondary.

It is important to explain to parents that punishment and disapproval are ineffective. Management
options include restricting fluid intake before bedtime, waking the child to pass urine once in the
night, and the use of star charts to reward success. Where the former has failed in a child >6, other
options include

- Enuresis alarms
- Short term relief with sublingual desmopressin

Daytime Enuresis

Daytime enuresis is usually accompanied by nocturnal enuresis, but should not persist in a child over
the age of 3 – 5 years. There are many potential causes

- Lack of attention to bladder sensation

- Detrusor instability
- Neuropathic bladder due to spinal lesions. This is suggested by a distended bladder
alongside abnormal perineal sensation, anal tone, leg reflexes, and gait
- UTI
- Constipation
- Ectopic ureter e.g. into vagina

Investigation should therefore include urine dipstick, and can extend to USS bladder or MRI spine.

Where an underlying cause is excluded, the focus should be on training the child to recognise their
need to go to the toilet with e.g. star charts, enuresis alarms
Hannah Cooke, 2016/17

Secondary Enuresis

Secondary enuresis is the loss of previously achieved continence. There are many potential causes

- Emotional upset
- UTI
- Polyuria from an underlying disorder e.g. diabetes, renal failure

Investigation can include urine dipstick, measurement of urinary osmolality, and renal tract USS

Acute Nephritis

Acute nephritis is a cause of haematuria, volume overload, and hypertension. There are many
potential causes in childhood, which must be identified and treated to prevent long term renal
damage

- Post-infectious
- Vasculitis e.g. Henoch-Schonlein purpura, SLE, Wegner granulomatosis
- IgA nephropathy
- Anti-GBM disease

Henoch-Schonlein purpura

Henoch-Schonlein purpura is common in children, particularly in winter. It presents with many of the
following vasculitic features, often preceded by URTI

- Characteristic purpuric rash on the buttocks and extensor surfaces of the limbs
- Arthralgia
- Periarticular oedema
- Abdominal pain
- Glomerulonephritis

Complications include GI bleeding, intussusception, and ileus as well as progressive renal disease

It is usually self-limiting, and treatment is typically supportive. All children with renal involvement
should be followed up for one year to ensure that renal function returns to normal

- Corticosteroids and NSAIDs can help joint pain

- Azathioprine, plasmapheresis and cyclophosphamide have been used in renal disease but
research is inconsistent
Hannah Cooke, 2016/17

ENT
Sore Throat

Coryza

Coryza is the commonest infection of childhood; largely due to rhinoviruses, coronaviruses, and RSV

- Typical presentation is with clear nasal discharge, nasal blockage, and general malaise

It is important to advise parents that colds are self-limiting and have no specific curative treatment.
Fever and pain are best treated with paracetamol or ibuprofen, and intake of fluids should be
encouraged

Acute Tonsillitis

Acute tonsillitis is usually either due to group A -haemolytic streptococci, Epstein-Barr virus
(infectious mononucleosis), and rarely diphtheria

- Clinically it is difficult to distinguish between the two, as both result in purulent surface
exudate
- Bacterial causes tend to be associated with headache, apathy, abdominal pain, and cervical
lymphadenopathy
- If the tonsillitis is due to EBV there may be additional hepatosplenomegaly, petechiae on the
palate and atypical lymphocytosis

The Centor criteria give an indication of the likelihood of a sore throat being due to bacterial
infection. The criteria are:

- Tonsillar exudate
- Tender anterior cervical adenopathy
- Fever over 38°C (100.5°F) by history
- Absence of cough

Typically, where there is a severe tonsillitis, the patient will be given a 10/7 course of penicillin V or
erythromycin. If children are unable to swallow, there should be hospital admission for IV fluids,
antibiotics and analgesics

Acute Pharyngitis

Typical presentation of acute pharyngitis in children is with a sore throat, visibly inflamed pharynx
and soft palate, and enlarged and tender local lymph nodes

- Common pathogens include group A -haemolytic streptococci, and more commonly

respiratory viruses (adenovirus, enterovirus, rhinovirus)

Chronic Tonsillitis and Adenoidal Hypertrophy

Chronic tonsillitis is a common condition, and does not always result in tonsillectomy. The
indications for tonsillectomy include
Hannah Cooke, 2016/17

- Recurrent severe infections (>3 attacks per year for 3 years, or >5 attacks in a year)
- Abscess formation in the peritonsilar (quinsy), parapharyngeal, or retropharyngeal space
- Adenotonsilar hyperplasia, leading to obstructive sleep apnoea

Adenoids grow proportionally faster than the airway from 2 to 8 years, and therefore may narrow
the posterior space sufficiently to justify adenoidectomy. Benefits need be balanced against the risk
of regrowth, atlantoaxial subluxation, and nasopharyngeal stenosis. Indications include

- Recurrent otitis media with effusion causing hearing loss

- Obstructive sleep apnoea (cessation of oronasal flow for 6 seconds)
o This risks hypoxaemia, hypercarbia, pulmonary hypertension, and cor pulmonale
- Nasal obstruction
- Rhinosinusitis

Stridor

Mucosal inflammation and swelling due to laryngeal and tracheal infection can be life threatening.
Acute upper airways obstruction is characterised by

- Stridor (Inspiratory = extrathoracic (laryngeal), biphasic = tracheal, expiratory = intrathoracic

(tracheobronchial))
- Hoarseness
- Barking cough
- Dyspnoea

Stridor is a sign of impending respiratory arrest and needs ABC management. Examination needs to
be cautious, as the use of instrumentation can cause laryngospasm and compromise the airway
further, hence the throat should never be examined

- The airway needs to be secured by the least invasive method e.g. intubation,
crycothyroidectomy, or tracheostomy

Viral Croup

Croup is the common name for laryngotracheobronchitis, this can lead to a subglottic oedema that is
potentially dangerous by narrowing the trachea

Patients present with the above symptoms, preceded by fever and coryza. Some children can be
managed at home, but parents need to observe the child closely for signs of increasing severity

- Hospitalisation is indicated if Westley score >4 e.g. inspiratory stridor, intercostal recession,
decreased air entry, cyanosis, or altered level of consciousness
- It may also be indicated if the child has inadequate fluid intake

Management includes

- Oral dexamethasone alone for mild croup

- Oral/IV dexamethasone or prednisolone ± nebulised budesonide can reduce the severity and
need for hospitalisation
o In severe cases there should be nebulised adrenaline and oxygen
Hannah Cooke, 2016/17

Epiglottitis

Epiglottitis is now relatively rare due to HIB vaccination. Patients present with drooling (difficulty
swallowing) and a muffled voice. It is essential not to examine the mouth of these patients, and to
call for senior help

- A secure airway (e.g. nasotracheal tube) and antibiotics should be used to manage these
patients

Epiglottitis can be distinguished from croup as it develops faster, there is no preceding coryza, cough
and stridor are not prominent, and patients generally have a high fever.

Swallowed Foreign Body

Foreign bodies in the oesophagus mostly pass harmlessly, however there are a few potentially life-
threatening complications

- Paraoesophageal abscess, mediastinitis, airway obstruction, stricture formation,

tracheoesophageal fistula

Initial examination should involve assessment of the airway and vital signs, checking the mouth and
oropharynx with a bright light, and cardiovascular and respiratory examination

- If there is airway compromise, there needs to be urgent referral for endoscopic removal
under general anaesthetic

Investigation can include AP and lateral x-ray of the neck to look for foreign bodies. Consider indirect
laryngoscopy and/or fibre-optic examination of the pharynx if available

- Objects may be seen at the common sites (tonsil, tongue base, vallecular, posterior
pharyngeal wall)
- Look for an air bubble in the upper oesophagus
- Look for soft tissue swelling of the posterior pharyngeal wall
- If there is paravertebral air or surgical emphysema, there may have been perforation

If the obstruction is a soft bolus, then the use of smooth muscle relaxant (hyoscine butylbromide)
and swallowing a fizzy drink may be successful

Removal of an oesophageal foreign body can include

- Anaesthetise the throat using a xylocaine spray

- Use a good light to examine the patient and use forceps to grasp and remove the object

Where the object is visible on x-ray, the object is known to be sharp, or if nothing is seen on direct
visualisation there should be endoscopic removal under general anaesthetic

Other Causes

Congenital laryngeal and tracheal anomalies are a common cause of stridor in neonates, this will be
worse when awake and exacerbated by exertion (unlike pharyngeal obstruction which is worse
asleep)
Hannah Cooke, 2016/17

- Laryngomalacia/ tracheomalacia
o The larynx or tracheal rings are soft and floppy and collapse during breathing
o Usually managed conservatively, but if there is severe respiratory distress/ reflux
consider surgical intervention
- Congenital vocal cord paralysis
- Subglottic stenosis
o This is usually managed with laryngotracheal reconstruction but patients may
require tracheostomy if severe
- Laryngeal webs
- Compression from a vascular ring (thoracic aorta abnormality)

Other miscellaneous causes include

- Smoke inhalation
- Throat trauma
- Retropharyngeal abscess
- Anaphylaxis or angioedema

In summary

- Congenital anomalies
- Apyrexial illness such as foreign bodies, anaphylaxis, injuries, and tumours
- Pyrexial illness such as epiglottitis, croup, laryngitis, retropharyngeal abscess and diphtheria
Hannah Cooke, 2016/17

Dermatology
Infants and Newborns

Skin at birth is covered with vernix caseosa, this is chalky white creasy coat mainly composed of
water, proteins and lipids

- The purpose of vernix is to protect the skin in utero from amniotic fluid
- It is shed near to the end of gestation, and this enables the transepidermal barrier to mature

Common newborn skin lesions include

- Capillary haemangioma are pink macules on the upper eyelids, forehead and neck
- Cavernous haemangioma (strawberry naevus), these will regress with time
o Large lesions can lead to thrombocytopaenia in some. Steroids and IFNα may be
needed
- Erythema toxicum, this is a common rash of white pinpoint papules on an erythematous
base
- Milia are white pimples on nose and cheeks from retention of keratin and sebaceous
material in follicles
- Mongolian blue spots
o This is important to document as can be mistaken for bruising and NAI
- Port wine stain. If large and in CN V distribution, there may be an indication for MRI to
assess for Sturge-Weber syndrome
o These are due to vascular malformation of capillaries in the dermis, and will grow
with the child
o Their appearance can be improved with laser therapy

Some non-benign skin changes may also be seen in the newborn

- Bullous impetigo is an uncommon but serious blistering form of impetigo. Management is

with antibiotics
- Melanocytic naevi present at birth can be disfiguring and have a risk of developing into of
melanoma
- Epidermolysis bullosa is a rare, genetic, blistering of skin and mucus membranes
o The AD form is milder, whereas the AR form can be fatal

Napkin rashes are very common in infancy. Common causes include contact dermatitis, infantile
seborrheic dermatitis, candida, and atopic eczema

- Contact dermatitis can occur if the nappy is not changed frequently enough, or if baby has
diarrhoea
o Classically flexures are spared, and there is an erythematous scalded appearance ±
ulceration
o Emollients and topical steroids can be used
- Candida can cause or complicate nappy rash. This presents as an erythematous rash
involving the flexures, often with satellite lesions
Hannah Cooke, 2016/17

Infantile seborrheic dermatitis (cradle cap) is also common. This presents as an erythematous scaly
eruption forming thick yellow scale

- This can spread to the face, behind the ears then to flexures and nappy area
- If mild, emollients are usually sufficient. In more severe cases topical steroids ± antifungal
creams are used

Infections and Infestations

Viral warts are very common, and caused by HPV infection. Most will disappear spontaneously over
several months

- Treatment is recommended if there is pain, or if cosmetic appearance is troubling

- Daily application of salicylic acid/lactic acid is first line, but cryotherapy can be used in older
children

Molluscum contagiousum are caused by a poxvirus

- These are small skin coloured pearly papules with central umbilication, usually multiple and
often widespread
- They will disappear spontaneously, but this can take up to a year
o Topical antibiotics can be given if there is to secondary bacterial infection

Pediculosis capitis is head lice infestation, and is very common in children. It typically presents with
scalp itching, or where a parent has noticed live lice on scalp or nits

- Louse eggs are usually seen on hairs close to scalp

- Infestation is confirmed by the appearance of live lice, and treatment is with malathion
solution 0.5% overnight alongside combing of hair with a fine tooth comb
o This should be repeated after 1 week
- Permethrin 1% is alternative, left on for 10mins instead of overnight
Hannah Cooke, 2016/17

Oncology
Childhood cancer is relatively common, with malignancy the second commonest cause of childhood
death outside of the neonatal period

- Leukaemia is the commonest childhood cancer, followed by brain tumours

For children with cancer, there are several additional factors that should be considered

- Radiotherapy and chemotherapy risk irreversible damage to bone marrow, hence stem cell
transplant (either autologous or allogeneic) may be required
- Fertility preservation, particularly where alkylating agents are used
- Due to immunosuppression, measles and VZV are potentially life-threatening infections, and
children with cancer should avoid contact with infected individuals

With advances in cancer care, many children are now surviving well into adulthood. However, long
term survivors often have residual issues from cancer treatment

- This includes hypopituitarism, infertility, asymmetric growth, and sexual dysfunction

- There is often a higher risk of developing a second primary malignancy. Many of these can
be attributed to etoposide and radiotherapy

Supportive care for the whole family is essential to reduce stress and depression.

Acute Lymphoblastic Leukaemia (ALL)

ALL is the single commonest childhood cancer. Presentation of ALL peaks at 2 – 5 years, generally
developing insidiously over several weeks. The symptoms and signs of leukaemia can be explained
by their underlying cause

- General symptoms of malaise and anorexia

- Bone marrow infiltration leading to anaemia (pallor, lethargy), neutropaenia (infection), and
thrombocytopaenia (bruising, petechiae, bleeding)
- Other organ infiltration e.g. hepatosplenomegaly, lymphadenopathy, CNS infiltration,
testicular swelling, chloroma

Investigation

FBC and blood is usually abnormal, with low counts of most cells, raised WBC count (indicating
tumour load, and evidence of circulating leukemic blast cells. Diagnosis requires bone marrow
examination

- This can be with bone marrow aspirate and/or trephine to identify the cytogenetic
characteristics of the cancer

Management

Before starting treatment, it may be important to correct cell deficiencies with blood transfusion. In
addition, protection against tumour lysis syndrome with additional hydration and allopurinol/
rasburicase may be important dependent on which cell count
Hannah Cooke, 2016/17

Treatment is then divided into stages

- Induction is for the first month, with high doses of vincristine, dexamethasone, L-
asparaginase, and intrathecal methotrexate
- Consolidation and CNS protection then follows this from week 5 to week 8
- Delayed intensification follows a period of maintenance, this takes place from week 16 to
week 23 with a similar schedule to induction

Maintenance is in two phases from week 8 – 16 and again from week 23 for 2 years in girls and 3
years in boys

- This involves monthly vincristine and dexamethasone alongside weekly methotrexate

Where relapse occurs, high-dose chemotherapy and total body irradiation are used.

Other Leukaemias

ALL accounts for 80% of childhood leukaemia, and most of the remainder is AML

- CML and other MPN are rare

Neuroblastoma

Neuroblastoma arise from neural crest tissue in the adrenal medulla and sympathetic nervous
system (paraspinal). These have their highest incidence in very early life

There is a spectrum of disease ranging from benign ganglioneuromas to malignant neuroblastomas

- Prognosis is poor, particularly where there is 1p deletion and 17q expansion

- Amplification of MYCN is also a poor prognostic feature

Most children will present with an abdominal mass, these are usually large and complex tumours
with adrenal primaries. Patients can be clinically very well until the late stages of disease, therefore
often present late

- Common symptoms/signs include pallor, weight loss, vomiting and diarrhoea,

hepatomegaly, bone pain and limp
- There may also be neurological deficit from spinal invasion

Investigations

FBC, coagulation and ESR are usually deranged. There are usually raised urinary catecholamines
(VMA and HVA)

CT is usually used for assessing the tumour

- Diagnosis requires biopsy

- Metastatic disease can be detected by MIBG scanning

Staging is 1 – 4 according to lymph node involvement and tumour crossing the midline
Hannah Cooke, 2016/17

- Stage 4s also exists. This is found in children <!2 months where the primary is localised, but
there is evidence of distant spread
o This is likely to regress spontaneously, and can therefore simply be monitored

Management

Localised primaries without metastasis can be cured with surgery alone. Metastatic disease however
requires high-dose chemotherapy, radiotherapy and stem cell transplantation

- Risk of relapse in metastatic disease is high

Nephroblastoma (Wilm’s tumour)

Wilm’s tumour develops from embryonal renal tissue, and usually presents before 5 years of age

- Most are sporadic

- Some are associated with overgrowth syndromes (Beckwith-Widemann, Sotos), Edward’s
syndrome, and other conditions
- Some are familial, inherited as an autosomal dominant disease

The commonest presenting complaint is an abdominal mass in a well child

- Some will experience symptoms such as abdominal pain, anorexia, anaemia, haematuria,
and UTI

Investigations

FBC and U&Es are useful initial tests, as well as genetic studies where relevant.

USS or CT/ MRI is used to identify the tumour. It arises from the kidney and contains cystic and solid
densities

- Imaging is primarily for staging and treatment planning

o Stage 1 disease is limited to the kidney and completely excised
o Stage 2 disease extends beyond the kidney, but is completely excised
o Stage 3 disease is where there is residual tumour after nephrectomy, but this is
confined to the abdomen
o Stage 4 disease is where there are haematogenous metastasis
o Stage 5 disease is bilateral renal involvement at diagnosis

Biopsy should be avoided

Management

Management is usually nephrectomy with adjuvant chemotherapy, and neo-adjuvant chemotherapy

where the tumour is very large or bilateral

- Radiotherapy is used additionally in > stage 3

Hannah Cooke, 2016/17

Retinoblastoma

Retinoblastoma is a malignant tumour of retinal cells, usually presenting within the first 3 years of
life

Retinoblastoma develops when both Rb1 alleles are mutated, hereditary retinoblastoma occurs
where there is one mutation that is inherited and the second occurs somatically.

- Around 40% of tumours are heritable, this is considered AD with variable penetrance (as
there is a chance that a second mutation won’t occur)
o All bilateral tumours are heritable, as are around 20% of unilateral tumours

Common presentation is where a white pupillary reflex is noted. Patients may also develop a squint

Investigations

MRI is the best modality to characterise the tumour (staging is A to E), and genetic counselling may
be required

Management

The aim is to cure, but preserve vision, therefore neo-adjuvant chemotherapy is common prior to
focal treatment

- Focal treatment includes cryotherapy, photocoagulation, and external beam radiotherapy

- In advanced cases, enucleation may be required

Secondary malignancy, particularly sarcoma, is common in hereditary cases.

Other Childhood Cancers

Brain Tumours

Brain tumours in children are almost always primary, and usually infratentorial (in children <5). The
commonest types include

- Astrocytoma
- Medulloblastoma
- Ependymoma
- Craniopharyngioma

Investigation is best with gadolinium enhanced MRI scan rather than CT

These usually present with symptoms of raised ICP alongside focal neurology, there can also be
hydrocephalus. Tumours of the spine can present with back pain, peripheral limb weakness, or
bladder/bowel dysfunction.

- In babies there can be an increased head circumference and regression in development

Low grade gliomas do not require treatment in most cases

Hannah Cooke, 2016/17

Soft Tissue Sarcomas

Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood, most commonly of the
face and neck

- Management is usually with a combination of chemotherapy, surgery and radiotherapy as

tumour margins are usually ill-defined

Bone Tumours

Malignant bone tumours are rare before puberty, with the commonest tumours osteosarcoma and
Ewing sarcoma. These usually present with persistent localised bone pain

- Management is usually neo-adjuvant chemotherapy and (where possible) en-bloc resection,

failing this there is amputation

Lymphoma

Lymphoma typically presents with painless cervical lymphadenopathy (HL) or a mediastinal mass
(NHL)

- Non-Hodgkins lymphoma is rare in infancy, and peaks at around 2 – 4 years of age

- Hodgkins disease in childhood is rare, but incidence increases sharply after puberty

Where a child has cervical lymphadenopathy, it is important to establish if there is a history of

infection. Examination to characterise the enlarged nodes as well as determining if there is
hepatosplenomegaly or CNS involvement is essential

- Investigations such as FBC, CXR and abdominal USS can also be useful
Hannah Cooke, 2016/17

Diabetes and Endocrinology

Hypothyroidism

TSH in the first week of life is very high, stimulating production of large amounts of T3 and T4. In pre-
term infants, there may be low levels of T4 for the first few weeks, but if TSH is in the normal range,
it does not require treatment

Congenital Hypothyroidism

There are several causes of congenital hypothyroidism

- Maldescent of the thyroid and athyrosis is the commonest cause, in this the thyroid remains
sublingual and fails to form properly
- Dyshormonogenesis is an inborn error of thyroxine synthesis
- Iodine deficiency
- Panhypopituitarism

This is usually asymptomatic and picked up on screening (heel-prick), but it is important to diagnose
as it is a preventable cause of learning disability

- If symptomatic there can be failure to thrive, prolonged jaundice, constipation, cold and dry
skin, coarse facies, large tongue, hoarse cry, and umbilical hernia

Treatment is with levothyroxine, usually started at 2 – 3 weeks’ age.

Juvenile Hypothyroidism

Hypothyroidism in children is usually caused by autoimmune thyroiditis, and has higher incidence in
those with Down syndrome or Turner’s syndrome. This affects females more than males

- Symptoms are as for adults, but can also include delayed puberty and SUFE

Other Paediatric Endocrine Conditions

Hypoglycaemia

Hypoglycaemia is a common complication in neonates (BM <2.6), and can present with sweating,
pallor, irritability, headache, or seizure. If untreated, there can be long-term microcephaly, epilepsy,
and severe learning difficulties

Investigations to perform in children with hypoglycaemia that are not on insulin should include

- Bloods
- Plasma glucose
- Growth hormone, IGF-1, ketones, glycerol, amino acids, acylcarnitine profile, lactate,
pyruvate
- Urine for organic acids

Causes can include

Hannah Cooke, 2016/17

- Fasting
- Insulin excess: beta-cell tumours (PHHI, insulinoma), autoimmune, Beckwith
syndrome
- Without insulin excess: liver disease, ketotic hypoglycaemia of childhood, inborn
errors of metabolism, hormonal deficiency (Addison’s, low GH/IGF-1, CAH)
- Non-fasting/ reactive
- Galactosaemia
- Leucine sensitivity
- Fructose intolerance
- Exposure to high levels of maternal insulin

Ketotic hypoglycaemia is a condition in which children become hypoglycaemic in fasting due to

limited reserves for gluconeogenesis. This resolves spontaneously

PHHI (persistent hypoglycaemic hyperinsulinism of infancy) is caused by genetic errors in insulin

release pathways. This may require pancreatectomy, but can sometimes be managed with
somatostatin analogues

Treatment should be with IV glucose (2ml/kg of 10% dextrose) ± corticosteroids if required

Hyperthyroidism

Hyperthyroidism in children is most commonly due to Grave’s disease, as for adults. It has highest
incidence in teenage girls

- Investigation and management are as for adults

Neonatal hyperthyroidism can occur in infants of mothers with Grave’s disease due to placental
transfer of autoantibodies

- Treatment of the pregnant mother, and also of the neonate after birth is essential
- The condition will resolve spontaneously with time

Parathyroid Disease

Hypoparathyroidism is characterised by a low calcium, low PTH, raised phosphate and normal ALP

- In severe hypocalcaemia there can be muscle spasm, fits, stridor, and diarrhoea. Acute
symptomatic hypocalcaemia can be treated with IV calcium gluconate

In infants, it is usually due to DiGeorge syndrome (alongside thymic aplasia, defective immunity,
cardiac abnormalities, and facial abnormalities). In older children it is usually due to autoimmune
disease

Psuedohypoparathyroidism there is end-organ resistance to PTH, therefore calcium and phosphate

are abnormal but PTH is high. Pseudopseudohypoparathryroidism occurs where there are physical
characteristics of pseudohyperparathyroidism, but all serum levels of electrolytes and hormones are
normal

- Physical features of the above diseases include short stature, obesity, subcutaneous
nodules, short fourth metacarpals, learning difficulties, and teeth enamel hypoplasia
Hannah Cooke, 2016/17

Adrenal Insufficiency

CAH

CAH is the commonest cause of insufficient cortisol and mineralocorticoids in children

- This can be diagnosed by raised levels of 17-OHP due to a deficiency in the enzyme 21-
hydroxylase

Cortisol deficiency in CAH stimulates raised ACTH, driving overproduction of adrenal androgens.
Female infants will be identified due to genital virilisation, whereas males will usually present with
salt-losing crisis

Adrenal Failure

Adrenal insufficiency may also be due to Addison’s, adrenal haemorrhage (often in meningococcal
septicaemia), TB, and adrenoleucodystrophy.

Infants present with salt-losing crisis, hypotension, and/or hypoglycaemia. Older children usually
present with chronic ill-health and pigmentation. There will be hyponatraemia, hyperkalaemia,
metabolic acidosis, and hypoglycaemia

- Short synacthen test is diagnostic, with synthetic ACTH producing no increase in serum
cortisol

Urgent treatment with IV fluids and hydrocortisone is required. In the long term patients will require
fludrocortisone and glucocorticoid replacement

Inborn errors of metabolism

These are rare conditions but can present in different circumstances

- They may be suspected before birth if there is a family history

- Newborn screening blood-spot check (PKU and MCADD)
- Family screening
- Severe neonatal illness e.g. poor feeding, vomiting, encephalopathy, acidosis, coma
- In infancy or childhood with hypoglycaemia

Several different forms exist, however the commonest include

- PKU. This is due to deficiency of phenylalanine hydroxylase or some alteration alone the
pathway
o If untreated presents with developmental delay
o There can be a musty odour, often fair haired and blue eyed, eczema and seizures
o Treatment is restriction of dietary phenylalanine
- Homocystinuria
o This presents with developmental delay, subluxation of ocular lens, progressive LD,
psychiatric problems, convulsions, fair and brittle hair, and thromboembolic events
o Treatment is with replacement of the defective enzyme with pyridoxime
- Tyrosinaemia
Hannah Cooke, 2016/17

o This presents with liver damage and Fanconi syndrome

o Treatment is dietary restriction
- Galactosaemia
o This presents when lactose containing milk feeds are given with vomiting, jaundice,
hepatomegaly, chronic liver disease, cataracts and developmental delay
o Treatment is lactose free diet
- Glycogen storage disorders come in nine forms, but all prevent mobilisation of glucose from
glycogen
o Treatment is to give frequent feeds to maintain blood glucose, this may need to be
via NG. High protein may be recommended to prevent muscle wasting
o Enzyme replacement is important where available

Type Enzyme Onset Features

I (Von-Gierke) G6P Infant Enlarged liver and kidneys,
hypoglycaemia
II (Pompe) L -glucosidase Infant Hypotonia, cardiomegaly,
hepatomegaly
III (Cori) A-1,6-G Infant Hepatomegaly and muscle wasting
V (McArdle) Phosphorylase Child Weakness and cramps
Hannah Cooke, 2016/17

Neurology and Disability

Spasticity

Spasticity in childhood is typically caused by corticospinal tract disorders. This can include

- Cerebral dysgenesis
- Global hypoxia-ischaemia
- Arterial ischaemic stroke
- Cerebral tumour
- Acute disseminated encephalomyelitis
- Post-ictal paresis
- Hemiplegic migraine

Cerebral Palsy

Cerebral palsy is an abnormality of movement and posture caused by disturbances that occurred in
the foetal or infant brain (up to 2 years). This is often accompanied by cognitive, communicative, and
seizure disorders

- The lesion in the brain is non-progressive, however the features of disease tend to become
manifest over time

Most cases of CP are antenatal in origin, and around ~10% are caused by hypoxic-ischaemic injury
during childbirth. Specific causes are detailed in the table below

Antenatal Vascular occlusion, cortical migration disorder, structural maldevelopment

Perinatal Hypoxic-ischaemic injury, periventricular leucomalacia
Postnatal Infection, head trauma, hypoglycaemia, hydrocephalus, hyperbilirubinaemia

Presentation

Often, babies with CP will have a low APGAR score at birth.

Diagnosis is by clinical examination, but often MRI is used to identify cause. Clinical features include

- Abnormal limb and/or trunk posture and tone

- Delay in motor milestones with asymmetric hand function before 12 months and abnormal
gait
- Feeding difficulties due to oromotor incoordination (pseudobulbar palsy)
- Persistence of primitive reflexes

Severity of CP is graded by the gross motor function classification system on a scale of 1 – 5, 5 is

wheelchair bound.

Classification

Spastic CP is the most common form of the condition, occurring due to damage in the corticospinal
tract. There are three main types
Hannah Cooke, 2016/17

1. Hemiplegia, typically affecting the arm>leg and sparing the face. This generally presents with
spasticity at 4 – 12 months ± preceding hypotonia. A common cause is neonatal stroke, and
may also lead to hemianopia
2. Quadriplegia, this is often severe and associated with seizures and microcephaly. The trunk
is also involved with poor tone and opisothonus (extensor posturing)
3. Diplegia, where all four limbs are affected but the lower limbs to a much greater extent. This
is common in pre-term individuals due to periventricular brain damage

Dyskinetic CP is the second commonest form occurring due to extrapyramidal damage, this is
characterised by normal intellect alongside involuntary and uncontrolled movements

- Chorea (irregular, sudden, non-repetitive and brief)

- Athetosis (slow, writhing movements)
- Dystonia (simultaneous contraction of agonist and antagonist muscles giving a twisting
appearance)

Ataxic CP is the rarest form, and is usually a genetically determined condition. This presents with
usually symmetrical trunk and limb hypotonia, poor balance, and motor delay

- Cerebellar signs become more apparent as the child grows

Management

Treatment of CP requires MDT involvement, but can involve medical and surgical input

- Spasticity can be eased with medications such as baclofen, tizanidine, and gabapentin
- Surgical treatment includes repair of scoliosis, tendon lengthening, and osteotomy

Hypotonia and Weakness

Hypotonia and weakness is caused by disruption of lower motor neurones, the neuromuscular
junction, or the muscle itself

- Affected children may present with floppiness, delayed motor milestones, weakness, gait
abnormality, fatigability, and muscle cramps

Spinal Muscular Atrophy

SMA is an autosomal recessive disorder that leads to degeneration of the anterior horn cells of the
spinal cord

- Signs of denervation are prominent e.g. weakness, loss of reflexes, fasciculation

- Other signs may include intercostal recession and arthrogryposis at birth

SMA type 1 (Werdnig-Hoffman) is a very severe form, in which death typically occurs by 12 months
due to respiratory failure

Duchenne Muscular Dystrophy

DMD is an x-linked recessive disorder, resulting from a deletion of the dystrophin gene (preventing
connection between muscle fibres and the extracellular matrix surrounding them)
Hannah Cooke, 2016/17

- Around 1/3 of cases are due to a novel mutation occurring in maternal meiosis

Affected boys typically present with delayed motor milestones, waddling gait, Gower’s sign, and
pseudohypertrophy of calf muscles

- Parents may note that their son has an awkward gait, is unable to run quickly, and has
difficulty rising from the floor

The average age of diagnosis is 5.5 years (generally between 3 – 5), but symptoms are often present
long before this

- Progressive muscle atrophy leads to loss of ambulation by 10 – 14 years, and death from
respiratory failure/ cardiomyopathy by ~20

Diagnosis follows raised serum CK alongside genetic analysis and muscle biopsy (showing
replacement of muscle fibres by fat and fibrous tissue)

- Genetic analysis will usually show deletions within the dystrophin gene that alter the reading
frame, or point mutations creating stop codons

Management is largely symptomatic; including physiotherapy, foot orthoses, CPAP, and

corticosteroids

Other Muscular Dystrophies

The muscular dystrophies are a group of inherited disorders with progressive muscle degeneration.
DMD is the most common form, but many other forms exist

- Becker muscular dystrophy is milder than Duchenne, with typical presentation in the early
teens. Patients can usually walk up to their late twenties, and life expectancy extending into
the late forties
o With BMD, the deletion in the dystrophin gene does not usually alter the reading
frame of the gene, meaning that subsequent amino acid sequence is preserved
- Congenital muscular dystrophies are a heterogeneous group of conditions presenting with
slowly progressive proximal weakness

Headache

Headaches in paediatrics are most commonly seen in older children and adolescents, and are
classified into primary and secondary headache syndromes, as in adults

Children may also suffer less common forms of primary headache; this includes certain migraine
syndromes

- Familial migraine, due to a dominant mutation of calcium ion channels

- Sporadic hemiplegic migraine
- Basilar-type migraine, this presents with vomiting and nystagmus and/or cerebellar signs
- Abdominal migraine, this presents with episodic midline abdominal pain associated with
vasomotor symptoms, nausea and vomiting
Hannah Cooke, 2016/17

Red flags for raised ICP in children

- Recurrent school failure

- Fall off in linear growth
- Child <5 with primary complaint of headache
- As for adults

Management

In the absence of red-flag symptoms, further investigation is generally not indicated. Children and
their parents should be reassured, but warned that recurrent headaches are common

- Where headaches are recurrent in the absence of red-flags, it may be important to explore
psychological aspects e.g. bullying, anxiety, stress

Rescue treatments for headache in paediatrics are the same as for adults, however 5-HT antagnosit
medications can only be prescribed in patients over the age of 12

- This includes triptans as rescue medication and pizotifen as prophylaxis

Abnormal Head Size

Hydrocephalus

Hydrocephalus results from interrupted CSF flow, leading to dilation of the ventricular system
proximal to the blockage. There are two main forms

- Non-communicating/obstructive is where the obstruction is in the ventricular system e.g.

aqueduct stenosis
- Communicating is where the blockage is due to failure of the arachnoid villi to reabsorb CSF
e.g. SAH, meningitis

Infants with hydrocephalus will have disproportionate head growth as their skull sutures have not
fused; additional signs can include bulging of the anterior fontanelle, distended scalp veins, and fixed
downward gaze (sunsetting of the eyes)

- Older children present with features suggesting raised ICP

Diagnosis can be pre-natal with ultrasound screening. In infants presenting after birth, cranial USS/
CT/ MRI are used for diagnosis

It is essential to decrease ICP, largely this is achieved by the insertion of a ventriculoperitoneal shunt

- Complications of this include low-pressure headache, corrected with regulatory valves, and
malfunction due to blockage/ infection, corrected with replacement

Non-communicating hydrocephalus can also occur in myelomeningocele spinal bifida; this is due to
the Chiari malformation (in which the cerebellar tonsils and brainstem herniate through the foramen
magnum) leading to disrupted CSF flow

- This is managed by closure of the lesion soon after birth

Hannah Cooke, 2016/17

Macrocephaly (head circumference >98th centile) does not necessarily indicate hydrocephalus. There
are many potential causes

- Tall stature, or familial macrocephaly

- Chronic subdural haematoma
- Raised ICP, including cerebral tumour
- Neurofibromatosis
- Cerebral gigantism (Sotos syndrome)

Microcephaly

Microcephaly is head circumference below the 2nd centile. It can be broadly divided into congenital
and acquired forms

- Congenital microcephaly includes Down syndrome

- Acquired microcephaly occurs after insult to the developing brain. This includes viral
infections (rubella, VZV, zika), parasitic infections (CMV, toxoplasmosis), and alcohol and
drug consumption in pregnancy

It may also be familial, and not associated with developmental delay.

Like hydrocephalus, microcephaly can be detected pre- and post-natally by USS and routine head
measurement. The signs and symptoms of the associated effects can range from mild to severe, but
are typically life-long

- Seizures, developmental delay, movement and balance problems, hearing and visual loss

There is no standard treatment for microcephaly. Often there are routine check-ups to monitor
growth and development, and alongside this there is usually some form of speech, occupational and
physical therapy

- Specific medications may be required to control seizures and other symptoms

Anencephaly

Anencephaly is a neural tube defect that leads to a failure of development of the cranium and brain

- As this leads to stillbirth, or death shortly after birth, termination of pregnancy is usually
performed

Seizures

A seizure is a clinical event in which there is a sudden disturbance of neurological function caused by
abnormal/excessive neuronal discharge

- As in adults, it is important to exclude other non-epileptic or non-seizure events

Paroxysmal Events

Breath holding attacks are relatively common in toddlers

Hannah Cooke, 2016/17

- The child will hold their breath, go blue, lose consciousness and rapidly recover

Reflex anoxic seizures can occur following head trauma, cold food, fright, or fever. This is similar to
vasovagal syncope in adults, occurring in response to brief asystole from vagal inhibition

Other causes include

- Migraine
- BPPV
- Cardiac arrhythmia
- Non-epileptic attack disorder and fabricated seizures

Non-Epileptic

Non-epileptic seizures are common in children, most commonly these are febrile, but can also be
secondary to the following

- Metabolic disturbance e.g. hypoglycaemia, hypo/hypernatraemia, hypocalcaemia and

hypomagnesaemia
- Head trauma
- Infection e.g. meningitis, encephalitis
- Poisons and toxins

Febrile seizures are seizures accompanied by a fever, in the absence of intracranial infection. These
occur in 3% of children between 6 months and 5 years old, however risk is highest in children with
genetic predisposition

- Examination should focus on excluding intracranial infection e.g. meningitis

- Further investigation is usually not indicated
o A febrile seizure may occur in an infant <6m, but there should always be additional
investigations in these children to rule out other causes

Management is supportive care while the child is seizing (A to E), and treatment as for status
epilepticus if the seizure is prolonged

- Simple febrile seizures are characteristically brief, tonic-clonic seizures occurring in early
viral infection (when body temperature is rising rapidly)
- Complex febrile seizures are either focal, prolonged, or repeated in the same illness
o These have an increased risk of subsequent epilepsy

Where a child has had a simple febrile seizure there is no increased risk of epilepsy, however there is
a 30 – 40% chance of subsequent seizures

Parents should be given reassurance, but also provided with some key information

- Paracetamol and other anti-pyretics do not reduce the risk of febrile seizures
o They should still be given to a distressed febrile child to improve symptoms
o If the child is going to have a seizure it cannot be averted. It is not the parents fault
- They should be advised on the first aid management of seizure
Hannah Cooke, 2016/17

- Where there is a history of prolonged seizure (>5 minutes), rescue therapy with rectal
diazepam or buccal midazolam should be provided

Epileptic

Epilepsy is a common condition in childhood; most of these are idiopathic (presumed genetic) but
may also be secondary to tumours, malformations, neurodegeneration, and cerebral damage

- It is important to check for neurocutaneous syndromes

o NF1
o Tuberous sclerosis
o Sturge-Weber syndrome is characterised by a haemangioma of the face (port-wine
stain) in the distribution of CN V with a similar lesion intracranially

Epilepsy can be broadly sub-classified into two forms of seizure. In children under the age of 5, it can
be difficult to distinguish seizure types

- Generalised includes absence, myoclonic, tonic, tonic-clonic, and atonic

- Focal seizures
o Simple focal, where consciousness is maintained
o Complex focal, where consciousness is lost

Presentation, investigation and management is as for adults

Childhood Disability

Child development services (CDS) have been developed to provide a multidisciplinary, multi-agency
coordinated service

- This serves to support children with difficulties, and addresses the health, functional and
social needs of the child

Where a child is identified as having special needs, it is a requirement for health care professionals
to notify the child’s school

- This enables a special educational needs coordinator (SENCO) to provide extra provision for
that child in school
Hannah Cooke, 2016/17

Child Protection
There are several categories of child abuse. These may be inflicted upon the child by someone
known to them, or by a stranger

- Physical abuse
- Emotional abuse, including children witnessing domestic violence
- Neglect
- Sexual abuse
- Factitious disorder by proxt

The children act (1989, 2004) states that the welfare of the child is paramount, and this includes the
duty of care of professionals in safeguarding children

Where there is any indication of child abuse, it is important to seek advice and document concerns.
Following this, refer cases without delay to a statutory agency e.g. social care or the police

- Where social care accepts a referral for suspected abuse this creates a section 47
investigation (joint investigation by social care and police). A case conference will follow the
investigation within 15 days, and a protection plan will be put in place

Alongside instigating an investigation, several orders can be put into place to enforce child
protection in different situations

- Police protection order (section 46) is the most immediate form of protection without
reference to court. It lasts 72 hours, and consent from a person with parental responsibility
(PR) is still required for medical examinations
- Emergency protection order (section 44) occurs when a social worker applies to court. It
lasts 7 days, and social workers can gain PR where necessary

Children may be defined as ‘children in need’ (section 17) following investigation, these are children
who need input from local authority service to maintain a reasonable standard of health or to
prevent harm.

- The parents still have PR, but there is input and assistance to the child’s care

Care orders are made by the court, and put in place to remove children from abuse/ neglect and
transfer them to a safe place. These children are ‘looked after children (LAC)’, and can be placed
with foster carers, in residential homes, or with other relatives

- An interim care order (section 38) lasts up to 8 weeks. The local authority shares PR of the
child
- A full care order (section 31) lasts until a child is 18 years old, the court will decide whether
parents have supervised/ unsupervised access to the child. The LA shares PR of the child

Causation of Abuse

A common explanation for how child abuse develops is the ecological model, this results from an
interaction between the following stressors

- The child e.g. attachment difficulties, chronic illness and disability

Hannah Cooke, 2016/17

- The parent e.g. attachment difficulties, mental illness, learning difficulty, history of abuse
- The family e.g. single parent, domestic violence, poverty, lack of support
- The community e.g. socially impoverished

By recognising the factors in the ecological model, there can be primary prevention of child abuse by
identifying vulnerable children and families.

Physical Abuse and Manifestations

Physical abuse should be suspected in the following circumstances

- There is often an inappropriate delay in seeking medical advice following injury

- History not compatible with the bruise seen, or with the developmental stage
- Inconsistent history
- Contradicting history between parents
- Delayed presentation
- Imprint
- Parents unconcerned
- Pathological parent-child interaction
- Repeated visits to different EDs

Bruising

Bruising is rare in non-mobile infants, but frequency of bruising increases with age. It can be difficult
to discern intentional from non-intentional bruising but the size, shape, location, and pattern of
bruising should be assessed

- Non-intentional bruising is more common over bony prominences

- Intentional bruising is more common on protected areas (the cheeks, ears, trunk, arms,
hands, feet, and posterior thighs). There are often multiple clusters of bruises

It is important to examine all areas of the skin where intentional bruising is suspected. This should
include behind the ears, buttocks, and genitalia as well as the oral mucosa.

Differentials include

- Bleeding disorder
- Trauma, either accidental or non-accidental
- Non-pathological bruising e.g. petechial haemorrhage of the upper body following a tantrum
or vomiting, bruising following scratching

It may be indicated to perform an assessment of clotting, as there may be a coagulopathy as

opposed to non-accidental injury

- This is often where bruising is unexplained and bleeding is disproportionate to injury

- FBC, blood film, INR, aPTT, thrombin time, serum fibrinogen, and factor VIII should be
measured as a minimum
o Blood film indicates haematological malignancy
o Platelet count indicates ITP
o INR can indicate liver pathology
o APTT can indicate haemophilia
Hannah Cooke, 2016/17

Thermal Injury

Intentional scalds can include cigarette burns and immersion injuries

- These are symmetrical with clear upper margins and uniform depth

Unintentional scalds are more commonly due to spill injuries of hot liquids. These typically affect the
upper body with irregular margins and depth

Head Trauma

There are key differences between intentional and non-intentional skull fractures in infants

Non-Intentional Intentional
Single Complex, bilateral
Linear Wide, crossing suture lines
Parietal Occipital
No intracranial haemorrhage Associated subdural haemorrhage
Depressed

A common abusive head trauma in infants is multifocal subdural haemorrhage due to shaking
tearing bridging veins. There may be added hypoxic ischaemic brain damage and retinal
haemorrhage

- Affected infants can present with acute encephalopathy, characterised by apnoea and
seizures

Fractures

Limb fractures in non-mobile infants are more likely to be intentional, as there is often not a
plausible explanation as to how the injury could have occurred. There should be skeletal survey in
these cases to detect other fractures

- Occult rib (particularly posterior) and metaphyseal fractures in infants less than one year are
highly specific for non-accidental injury
- Scapular, sternal, and pelvic fractures are also suspicious

It may be important to rule out differential causes of fracture e.g. rickets, osteopenia of prematurity,
and bone fragility disorders

Other Forms of Child Abuse

Neglect

Neglect is the persistent failure of a parent to meet a child’s basic physical and/or psychological
needs

One should consider that there is neglect in the following situations

- The child shows severe growth faltering/ failure to thrive

Hannah Cooke, 2016/17

- Children are left unattended

- Medical needs are unmet e.g. failure to bring a child to routine health appointments or
administer prescribed medications
- There are severe untreated dental caries

Emotional Abuse

Emotional abuse can include the following

- Negativity, hostility, rejection, or scapegoating

- Emotional unavailability or unresponsiveness of parents
- Exposure to frightening or traumatic experiences

Sexual Abuse

There are many possible indicators of child sexual abuse

- Physical factors include STIs, genital bleeding or bruising, recurrent UTI, recurrent abdominal
pain, and persistent faecal soiling and wetting
- Behavioural factors include sexualised play, sudden change in behaviour, self-harm, and
eating disorders

It is essential that medical assessment of the above takes place as part of a child protection
investigation
Hannah Cooke, 2016/17

Adolescent Medicine and Puberty

Adolescent Development

Adolescence is commonly defined as the period of time from puberty to age 18. Puberty follows a
well-defined sequence of changes, described by the Tanner stages I (pre-pubertal) – V (adult) over
about 6 years

- Each stage occurs around 6 – 18 months later in boys

o This means that as boys tend to have 18 months more pre-pubertal growth than
girls, they end up an average of 12.5cm taller

In females, the features of puberty are

- Breast development, usually the first sign between 8.5 and 12.5 years
- Pubic hair growth and rapid height increase, this usually occurs almost immediately after
breast development
- Menarche occurs on average 2.5 years after the start of puberty, and signals that growth is
coming to an end

In males, the features of puberty are

- Testicular enlargement to >4ml, this is the first sign

- Pubic hair growth, usually between 10 – 14 years
- Rapid height increase, this usually occurs around 18 months (when testicular volume is 12 –
15ml) after the first signs of puberty

Tanner stages differ between males and females. Both have pubic hair stages, whereas males have
genital stages, and females breast stages

Breast Pubic Hair Genitals

BI – prepubertal PHI – none GI – preadolescent
BII – breast bud PHII – sparse, long, straight GII – lengthening of penis
BIII – juvenile smooth contour PHIII – darker, coarser, curly GIII – length and
circumference growth
BIV – Areola and papilla project PHIV – filling out GIV – development of glans,
darkening of scrotum
BV – Adult PHV – adult GV – adult

The developmental stages of adolescence are summarised below

Biological Psychological Social

Early Females: breast bud, pubic Concrete thinking, moral Emotional separation from
hair, growth concepts, awareness of parents, strong peer
Males: genital growth sexual identity identification
Mid Females: menarche, end of Abstract thinking Continuing emotional
growth separation from parents,
Males: ejaculation, voice heterosexual peer interest
breaks, growth spurt
Hannah Cooke, 2016/17

Both: acne, blushing, body

odour, need for more sleep
Late Males: continued growth in Complex abstract thinking Social autonomy, intimate
height, strength and body relationships
hair

Pubertal Disorders

Precocious puberty is the development of secondary sexual characteristics before the age of 8 in
females and 9 in males

- True (central) precocious puberty is where there are raised gonadotrophins. In males this is
more likely to have an organic cause e.g. intracranial tumour, whereas in females it is more
likely idiopathic
- False precocious puberty is due to excess sex steroids

Delayed puberty is the absence of pubertal development by 14 in females or 15 in males. This is

most commonly due to constitutional delay, but other causes include

- Low gonadotrophin secretion: chronic disease, panhypopituitarism or isolated pituitary

dysfunction, intracranial tumour, Kallman syndrome
- High gonadotrophin secretion: Kleinfelter’s/ Turner’s, acquired gonadal damage, steroid
hormone enzyme deficiencies

Thelarche is premature breast development, usually before 2 years of age. This is usually self-
limiting, and if isolated, does not require further investigation.

Premature pubarche is development of pubic hair. This is most commonly due to excess adrenal
androgens

- If there is excessive hair growth, consider CAH or adrenal tumour

Adolescent History Taking

It may be important to take a full adolescent psychosocial history (HEAADDSS) in order to assess risk
and provide information

- Home life: relationships, support

- Education: school, exams, future career/ further education
- Activities: exercise, leisure, social relationships
- Affect: body image, self-harm, depression
- Drugs: cigarettes, alcohol, illicit substances. How much and how often is key
- Diet: weight, caffeine, eating disorder
- Sex: concerns, periods, contraception. Use gender neutral terms
- Sleep

In general, make sure the adolescent is the central person in the consultation, avoid being
authoritarian, and use “I…” statements in preference e.g. “I am concerned that you…”

- Emphasise confidentiality
Hannah Cooke, 2016/17

Consent with younger people is allowed if they are sufficiently informed and either >16 or <16 but
assessed as competent to make decisions.

Health Problems in Adolescence

Chronic illness and/or disability may disrupt adolescent development and vice versa

- Adherence is a big problem when adolescents start to take control over illness instead of
parents, they may give it a low priority
o Ask: most people have trouble taking their medication, when was the last time you
forgot
o Talk through regime and any practical problems with it
o Explore their beliefs about it
o Find daily activities to anchor taking their medications
o Negotiate short term treatment goals and plan the regimen with the adolescent
o Written instructions
o Focus on positives
- Biological:
o Delated puberty, localised growth abnormalities, drug toxicity e.g. steroids
o Short stature, reduced bone mass, malnutrition
- Psychological:
o Regression to less mature behaviour, adopting sick role, parental stress, depression,
leads to poor adherence and control
- Social:
o Reduced independence, failure of peer relationships, social isolation, school
absence, risky behaviour can begin and affect disease as can chaotic eating habits.

There are several key common symptoms in adolescence that may indicate somatisation of
psychological problems e.g. bullying

- Fatigue, headache, abdominal pain, backache, and dizziness are the commonest
Hannah Cooke, 2016/17

Genetics
Genetic Counselling and Clinical Approach

Genetic counselling the process of making an accurate diagnosis of a genetic disease, and then
informing the patient ± their family of the following information

- The consequences of the hereditary disorder

- The probability of developing it
- The probability of transmitting it
- The ways in which the disorder can be prevented or ameliorated where possible

This genetic information can influence many different options e.g. having no (more) children,
accepting the risk, undertaking pre-natal diagnosis or pre-implantation diagnosis

It is a widely held view that children should not be tested for carrier status before the age at which
they can make the decision themselves. Whereas genetic testing for pre-symptomatic disease is
usually indicated in children if surveillance or preventative medication is recommended

- If the child is at risk of a late-onset and untreatable disorder, the genetic test is not
recommended until they can give informed consent

Clinical Approach to a Foetal Anomaly

1. What is the anomaly, and is it isolated or associated with other abnormal findings?
2. Does the pattern of anomalies suggest an underlying cause? This particularly refers to the
timing of the disruption
3. What is the nature of the anomaly?
a. Malformation syndromes describe a recognised pattern of anomalies with a
common cause e.g. chromosomal abnormality
b. Malformation sequence is where a single anomaly has led to a cascade of
subsequent structural defects
c. Association is the term for a recognised pattern of malformations (occurring
together more frequently than by chance alone) that do not have an identifiable
initiating cause
4. Is the anomaly a malformation, deformation or disruption?
a. Malformation occurs in the embryonic period, caused by an abnormality in a
structure as it is developing due to an intrinsic problem with the structure
b. Deformation occurs in the fetal period, caused by an abnormal intrauterine force
that distorts a normally formed structure
c. Disruption can occur in the foetal or embryonic period, and is the destruction of a
foetal part which initially formed normally
5. What additional information is available from the family, pregnancy, and personal medical
history?
6. Are there any environmental factors or teratogens? Prior to 18 days this will either result in
embryonic death or normality, however from 18 – 60 days (organogenesis) there can be
major malformation. From 2 – 9 months (the foetal period) there is usually mental or growth
retardation

Agent Example Anomaly

Drugs Alcohol Microcephaly, dysmorphism, heart defect
Hannah Cooke, 2016/17

Androgens Masculinisation of females

Cocaine Vascular disruptions
Phenytoin Cleft lip, heart defect
Valproate Mandibular/ ear abnormalities, neural tube defect
Vitamin A Neural tube defect
Infection Rubella Microcephaly, cataracts, heart defect
Toxoplasma Hydrocephalus
Varicella Limb defects, scarring
Maternal Disease Diabetes Neural tube defect, heart defect
PKU Microcephaly, heart defect
Physical Agents Hyperthermia Neural tube defect, CNS anomaly
X-Ray Microcephaly

Genetic Investigations

Investigation Application
Karyotyping Chromosomes stained and visualised to detect structural and numerical
chromosomal abnormalities
FISH Fluorescent-labelled DNA probes used to detect the presence, number
and location of abnormal sequences
Microarray (CGH) Comparative genomic hybridization uses FISH to detects chromosomal
imbalances by comparing test DNA to a reference DNA
DNA Analysis PCR to amplify DNA and determine the gene sequence

Inheritance Patterns

Understanding Mendelian inheritance allows physicians to predict the likelihood that an individual
may be affected by a genetic condition. This is largely achieved by drawing pedigrees

- Build up the tree from the “bottom” starting with the affected child and siblings. The usual
convention is to place siblings in birth order with the firstborn on the left
- Choose one of the parents (usually the mother) and ask about her siblings and their children,
and then her parents, moving from generation to generation.
- Add information on the paternal side of the family
- Use clear symbols
o Circles for females
o Squares for males
o Sloping line through the symbol to indicate deceased. If appropriate, record the
cause of death and age at death.
o Triangle for miscarriage, triangle with sloping line for termination
o Two lines from a common stem for twins
- Record names, maiden names and dates of birth (rather than ages whenever possible)
- Ask for miscarriages, stillbirths or deaths in each partnership. Also ask about consanguinity,
indicated with a double line between partners

Autosomal Dominant Inheritance

Autosomal dominant conditions present in the heterozygous state, meaning that each child has a
50% chance of developing the condition if they have an affected parent. By their nature, they must
occur in every generation
Hannah Cooke, 2016/17

- If there is no family history of the condition it may be a novel mutation, there may be
parental mosaicism of gametes, or the apparent father is not the biological father

There are some factors that complicate AD inheritance however

- Variation in expression: some affected individuals may have a more or less severe form of
disease
- Non-penetrance: the lack of clinical signs and symptoms in an individual with the abnormal
gene

Autosomal Recessive Inheritance

Autosomal recessive conditions occur when an individual is homozygous for the abnormal gene, on
pedigrees they tend to affect a single individual or siblings/cousins

- Risks of AR conditions are increased by consanguineous relationships

Reciprocal Translocations

In reciprocal translocation there is a swap of information between two chromosomes, but the
overall chromosome number remains 46

- These translocations can be in any combination of long arm to short arm of any
chromosomes
- Translocations occur due to errors in crossing over during meiosis

Affected families typically have

multiple miscarriages and children
born with congenital
malformations in multiple
generations

Robertsonian Translocations

Robertsonian translocation is a reciprocal swapping of one chromosomal long arm for one short arm
between acrocentric chromosomes (13, 14, 15, 21, 22)

- This reduces the total chromosome number to 45, resulting in one chromosome that carries
both long arms, i.e. information from itself and from another
Hannah Cooke, 2016/17

Affected families again

typically have multiple
miscarriages and children
born with congenital
malformations in multiple
generations

Chromosomal Disorders

Down Syndrome

Down syndrome is the most common genetic cause of severe learning difficulty, it occurs due to one
of three genetic mechanisms

1. Meiotic non-disjunction is the commonest, and correlates with increasing maternal age. In
this mechanism, the pair of chromosome 21 fail to separate during meiosis, leading to a
gamete with 2 copies of the chromosome
2. Robertsonian translocation usually with chromosome 14 alongside chromosome 21
- In this form of Down syndrome, genetic chromosome analysis of the parents is
recommended as they may have a balanced translocation
- If the mother carries the translocation, the risk of recurrence is higher than if the
father carries it (10% v 1%). The risk is lower than 1/6 as there is high loss through
miscarriage, and selection against the gamete carrying the unbalanced translocation
3. Mitotic non-disjunction in the embryo leading to mosaicism, usually leading to a milder
phenotype of Down syndrome due to a mixture of trisomy and normal cells

Down syndrome is usually suspected at birth due to clinical signs

Craniofacial Signs Other Anomalies

Flat nasal bridge Short neck
Upslanted palpebral fissures Wide sandal gap
Epicanthic folds Hypotonia
Brushfield spots in iris Congenital heart defects (commonly AVSD)
Small mouth and protruding tongue Duodenal atresia
Flat occiput Hirschsprung disease
Third fontanelle Imperforate anus
Umbilical hernia
Single palmar crease
Hannah Cooke, 2016/17

Down syndrome has an increased risk of many medical problems in later life

- Otitis media leading to hearing impairment

- Myopia, cataracts, and squint
- Increased risk of hypothyroidism, coeliac disease, and leukaemia (ALL)
- Epilepsy
- Alzheimer’s disease
- Dermatological disease, including alopecia and dermatitis

Detection of Down syndrome is a part of routing antenatal screening, providing the mother with a
percentage chance of the foetus having Down’s syndrome. Post-natally, diagnosis of Down
syndrome is with FISH of a blood sample to detect trisomy 21.

All children with T21 are entered into an automatic screening programme through life. This includes
cardiac screening, eye and hearing checks, and TFTs

- These factors are checked at 6 weeks, and throughout life at regular intervals

Turner’s Syndrome

Turner’s syndrome (45, X) may either be due to absence of one X chromosome, or due to a
structural defect of one X chromosome. It is characterised by short stature alongside any of the
following features

- Physical features e.g. webbed neck, wide carrying angle, wide spaced nipples, pigmented
moles, spoon-shaped nails, lymphoedema of hands/feet, low-set ears
- Congenital heart defects, commonly aortic coarctation
- Ovarian dysgenesis leading to delayed puberty, infertility
- Hypothyroidism and recurrent otitis media

It can be detected on antenatal USS where features such as oedema of the neck, hands and feet, and
cystic hygroma may be identified. Post-natal diagnosis is with FISH of blood samples.

Management should include growth hormone replacement therapy, and oestrogen replacement to
ensure development of secondary sexual characteristics.

Kleinfelter Syndrome

Kleinfelter syndrome (47, XXY) is usually sporadic, features include

- Infertility
- Hypogonadism with small testes and gynaecomastia
- Tall stature

Other Chromosomal Disorders

There are two other trisomy disorders that are not universally fatal in utero, however prognosis is
poor in both, with infants rarely surviving >1 year
Hannah Cooke, 2016/17

Edwards Syndrome

Edwards syndrome is trisomy 18. This is characterised by

- Small birthweight
- Cardiac and renal malformations
- Physical features e.g. overlapping fingers, small mouth and chin, short sternum, rocker-
bottom feet

Patau Syndrome

Patau syndrome is trisomy 13. This is characterised by

- Midline abnormalities e.g. cleft lip, omphalocele, structural brain defects

- Cardiac and renal malformations
- Physical features e.g. small eyes/cyclops, polydactyly, scalp defects

Autosomal Dominant Disorders

In addition to the disorders below, common AD disorders include

- Huntington disease
- Familial hypercholesterolaemia
- Myotonic dystrophy
- Otosclerosis
- Polyposis coli
- Ehler’s Danlos

Achondroplasia

Achrondroplasia is an autosomal dominant condition, but many cases are due to novel mutation
(particularly in increasing paternal age)

- Classical features are short stature due to marked shortening of the limbs, a large head,
frontal bossing, and depression of the nasal bridge

The homozygous form of the condition is severe and lethal, and is not uncommon due to many
achondroplasics forming relationships.

Complications of the heterozygous form include delay in gross motor development, exaggerated
lumbar lordosis, hydrocephalus, arthritis, spinal stenosis, recurrent otitis media, and respiratory
dysfunction.

Neurofibromatosis

NF1 is an autosomal dominant condition with high variation in expression. Individuals affected
usually have notable features of disease

- Cutaneous features: café-au-lait macules, benign neurofibromata, axillary freckling,

- Neurological features: macrocephaly, developmental delay, epilepsy
- Other features include Lisch nodules (haematoma of iris), optic glioma
Hannah Cooke, 2016/17

The severity of disease usually correlates with the size of deletion in the NF1 gene (important for
regulation of cell growth and differentiation).

Osteogenesis Imperfecta

Oteogenesis imperfecta describes a group of conditions characterised by brittle bones, occurring

due to mutations in type I collagen. There are four forms of the disease

- Type I (autosomal dominant) has frequent fractures, blue sclerae, dentinogenesis

imperfecta, and otosclerosis
o In type I there is a lack of 1 collagen chains, leading to only half the normal amount
of type 1 collagen production
- Type II is a lethal deformity,
- Type III is severe, and will lead to short stature and progressive deformities
- Type IV is the mildest, with white sclerae

Williams Syndrome

Williams syndrome can be AD, but is usually sporadic. It has several key features

- Short stature
- Characteristic facial features e.g. broad forehead, strabismus, short nose with broad nasal
tip, long philtrum, wide mouth
- Transient neonatal hypercalcaemia
- Congenital heart disease, commonly aortic stenosis
- Learning difficulties

Marfan Synrome

Key features

- Cardiovascular abnormalities e.g. aortic root dilatation, aortic dissection/aneurysm, mitral

regurgitation
- Musculoskeletal abnormalities e.g. arachnodactyly, hypermobility, pectus excavatum or
carinatum, kyphoscoliosis
- Facial abnormalities e.g. high arched palate, upward lens dislocation, glaucoma, myopia

Noonan Syndrome

Noonan syndrome has the following key features

- Characteristic facial features e.g. large head, high forehead, short up-tilted nose, triangular
shaped face
- Learning difficulty
- Short stature, webbed neck, and pectus excavatum
- Congenital heart disease, commonly pulmonary stenosis and ASD

Tuberous Sclerosis

Key features include

Hannah Cooke, 2016/17

- Learning difficulty, seizures

- Cutaneous features: adenoma sebaceum in a butterfly distribution, ash-leaf macules
- There can be renal and cardiac involvement

Autosomal Recessive Disorders

In addition to the disorders below, common AR disorders include

- CAH
- CF
- Glycogen storage disorders and galactosaemia
- Sickle cell and thalassaemia
- SMA 1 (Werdnig-Hoffmann)
- Albinism

Phenylketonuria

PKU is an autosomal recessive disorder, occurring due to either a deficiency in the enzyme
phenylalanine hydroxylase (classical) or in the synthesis of a co-factor for the enzyme

- It is usually detected at the newborn blood-spot check, but if undetected/untreated it

presents at 6 – 12 months with developmental delay
- Many affected children have blue eyes, blond hair, musty odour, eczema, and seizures

Management is with a phenylalanine-restricted diet throughout life

Freidreich Ataxia

Freidreich’s ataxia is genetic disorder resulting from a trinucleotide GAA repeat, this leads to a
markedly reduced amount of frataxin protein

- Low levels of frataxin lead to spinocerebellar degeneration, CNS and PNS damage, and
damage to other organs

Patients can present with clumsiness, ataxia, nystagmus and dysarthria alongside other symptoms
including

- Structural foot abnormalities, scoliosis

- Hypertrophic cardiomyopathy
- Diabetes
- Gradual paralysis
- Depression

Hurler Syndrome (Mucopolysaccharidosis, can be X-linked)

This causes learning disability, corneal clouding, short stature, and hearing impairment

Tay-Sachs Syndrome

Tay-Sachs is commonest in Ashkenazy Jewish populations and causes neurodegeneration presenting

with developmental delay
Hannah Cooke, 2016/17

- Seizures, spasticity, dementia, ataxia

X-Linked Inheritance

X-linked recessive disease is suggested by the following pedigree features

- >Two males are affected, either siblings or in successive generations

- No affected females
- Affected males are linked through unaffected females

In addition to conditions below, there are other common x-linked syndromes

- Colour blindness
- DMD and BMD
- G6PD
- Haemophilia A and B

Fragile X Syndrome

Fragile X is an x-linked recessive condition that occurs due to a tri-nucleotide repeat (fragile site).
The severity of the condition is determined by the length of the repeat; disease occurs when CGG
>200

- Genetic instability means that successive generations are likely to have longer repeat
sequences and more severe disease manifestations

Presentation differs dependent on repeat length

- Males that carry a pre-mutation (tri-nucleotide repeat below threshold for disease (50-200))
will be phenotypically normal, but may have daughters that pass on a full mutation to their
sons
- 50% of carrier females with the full mutation may have mild/moderate learning difficulties
- Some affected males may be phenotypically normal

The presentation of the condition is variable, but includes

- A large head and ears, long nose, and long face

- Large testicles
- Connective tissue abnormalities leading to mitral valve prolapse and lax joints
- Epilepsy and learning disability

Sporadic Malformations

The following sporadic malformations are among a common group of conditions with polygenic,
multifactorial or complex inheritance

- Multiple loci of alleles determining the genetic trait combine to form a normal distribution
of features for that trait
- The condition occurs when a certain threshold level of genetic liability (i.e. someone at the
very right of the normal distribution) combining with environmental factors is exceeded
Hannah Cooke, 2016/17

First-degree relatives of an affected individual have a higher risk of the condition than the general
population, but the risk is not as high as in Mendelian genetic disorders

Neural Tube Defects

Neural tube defects result from a failure of normal fusion of the neural plate to form the neural tube
in the first month of embryonic life

- These typically arise as multifactorial conditions, but can also exist within chromosomal
disorders e.g. trisomies 13 and 18
- The risk of a neural tube defect in an individual with a first degree relative with one is 1/25

The spectrum of severity ranges from anencephaly through to spina bifida occulta

- Spina bifida meningomyelocele is where CNS tissue (neural plaque) herniates through the
bony defect. These patients may have many complications including: paralysis of the lower
limbs, sensory loss, neuropathic bladder and bowel, and scoliosis
o The lesion is usually closed soon after birth, and remaining management is
supportive
- Spina bifida meningocele is where dura and CSF herniate through the bony defect. These
patients usually have a good prognosis following surgical repair
- Spina bifida occulta is a failure of fusion of the vertebral arch, and can be indicated by an
overlying tuft of hair, lipoma, birth mark or dermal sinus. Investigation is with USS ± MRI to
identify if there is underlying tethering of the cord (diastematomyelia)
o This requires surgical repair to prevent neurological deficit in the lower limbs and
bladder in later life

A key environmental factor for neural tube defects is a lack of folic acid during pregnancy, hence all
pregnant women are recommended to take 0.4 – 5mg folic acid OD before conception and in the
first few weeks of pregnancy

- Another environmental risk factor is the AED sodium valproate

Cleft Lip and Palate

A cleft lip results from a failure of fusion of the frontonasal and maxillary processes, and cleft palate
from failure of fusion of the palatine processes and nasal septum. It may be unilateral or bilateral

- The majority of cases are multifactorial (AEDs are again a risk factor), but the condition can
exist as part of a chromosomal disorder
- Cleft palate can exist as part of the Pierre-Robin sequence, where microthagnia causes
posterior displacement of the tongue, preventing the palate from fusing in the midline

Surgery to correct the defect typically occurs at several months of age. Prior to this there may be
difficulty feeding and recurrent otitis media, a dental prosthesis can help with the former