Tom's Fourth Year Guide (2011-12)

Toms Guide
2011-2012

Complete Guide to
4
th
Year
Page | 2

Contents

Psychiatry Page 3

Paediatrics

Page 80
Otorhinolaryngology

Page 414
Ophthalmology

Page 460
Obstetrics and gynaecology

Page 500

*NOTES

Dermatology just use the online lectures and memorise the pictures

HCE just use the online lectures and learn the stats

Obstetrics and gynaecology guide is not objective based (read the
objectives and you will understand why)

Page | 3

Psychiatry Topics and Topic Outcomes

Introductory Sessions

1. Understand the expectations of students during the placement

2. Interview a patient in a professional manner and instil therapeutic
optimism

3. Obtain a relevant history from a patient and/or carer and present it
verbally to a colleague using appropriate terminology

There is no set way of taking a psychiatric history and in most respects it
is very similar to taking a normal history. The following are a list of
recommended headings and some information that should be included.
Obviously different conditions will require a different approach and more
specific questions.

Identifying Information Name, age, marital status, children, occupation,
legal status (i.e. sectioned or voluntary)

Presenting Complaint Try to record this in the patients own words. For
example a patient does not usually present with depression, instead they
may present with self harm. Try to include common symptoms of
conditions as well i.e. low mood, difficulty sleeping and poor self esteem
with depression.

History of Presenting Complaint The following headings may be useful in
structuring this question: duration, development, mode of onset, course,
severity, associated symptoms, and precipitating factors

Past Psychiatric History This should include dates and durations of
previous mental illness, details of previous treatment (medication,
psychotherapy, ECT or even hospitalisation), details of previous contact
with psychiatric services and details of previous assessment or treatment
under mental health legislation.

Family History Enquire about the presence of psychiatric illness
(including suicide and substance abuse) in family members. A family tree
may also be useful since genetics are implicated in the aetiology of most
psychiatric conditions. Enquire whether parents are still alive and causes
of death if not. Finally enquire about the patients relationship with close
family members.

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Past Medical History As you would for a normal history. In particular
check for head injury/surgery, neurological conditions (i.e. epilepsy) and
endocrine abnormalities.

Drug History Note all medications including psychiatric, non-psychiatric
and OTC drugs. Check for non-compliance as well as adverse reactions
and allergies.

Substance Misuse Never avoid this due to embarrassment or fear of
upsetting the patient. Alcohol and substance related psychiatric conditions
are not uncommon! When assessing alcohol consumption as them about a
typical week. Try overestimating the amount if they wont give an answer
and see their response. Check the type of alcohol and when they have
their first drink and where. If illicit drugs then record name, route of
admission, years of use and frequency. Also try to illicit signs or
symptoms of dependence (see later).

Personal History This is basically taking a life history. There are four
main areas that should be focused on:
Infancy and early childhood (until age 5) pregnancy and birth
complications, developmental milestones, childhood illness and
unusually aggressive behaviour or impaired social interaction.
Later childhood and adolescence (until end of higher education)
school record, relationships (parents, teachers, peers), history of
abuse (physical, sexual or emotional), behavioural problems, drug
use, truancy, higher education, training
Occupation record type of duration of jobs, reasons for
unemployment and/or dismissal
Relationship, marital and sexual history puberty, significant
relationships, reasons for breakup, marriage/divorce, and ability to
engage in satisfactory sexual relationships.

Premorbid Personality An indication of the patients personality and
character before the onset of mental illness. A collateral history may be
useful here but the patient may sometimes be able to give details.

Forensic History Details and dates of previous offences and antisocial
behaviour, prosecutions, convictions and prison sentences. Ask about
violent crime in particular and the age of the patients first offence.

Social Circumstances Accommodation, social support, relationship,
employment, financial circumstances, hobbies and leisure activities.

4. Recognise the psychopathology of common psychiatric disorders
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5. Perform a mental state examination and present it verbally to a
colleague using appropriate terminology

Mental state examination (MSE) describes the interviewers impression of
many aspects of a patients mental functioning at a certain period of time.
This should not be seen as a separate section as it begins the second the
patient enters the room. The key components are as follows:

Appearance and Behaviour Appearance includes the patients physical
state, clothing and accessories, do clothes match, are they appropriate for
the time of year and day, are they carrying strange objects, are the
clothes clean? Self-care and hygiene, self-neglect, injuries or self harm.
Behaviour focuses on motor behaviour such as tics, tremors, abnormal
movements, twitches as well as fear, aggression, suspiciousness and
catatonic features. Also assess psychomotor abnormalities such as
retardation and agitation.

Rapport Note whether you are establishing a good rapport and what is
the patients attitude towards you. Some ways to describe this include
cooperative, cordial, uninterested, aggressive, defensive, guarded,
suspicious, fearful, perplexed, preoccupied and disinhibited etc.

Speech The three important aspects of speech are rate, rhythm and
volume. Difficulties in quality and flow of speech should also be assessed
along with incoherent, bizarre or disorganised speech.

Mood and Affect Mood should be assessed subjectively (by asking the
patient how they are feeling) over a period of time and objectively (by
yourself). Affect (external expression of emotion as perceived by others)
is measured by observing the patients posture, facial expression,
emotional reactivity and speech. When reporting affect there are two
components to consider:
1) Congruity does the patients subjectively reported mood match their
observed mood (i.e. a smiling woman saying she is sad and suicidal is
incongruous affect)
2) The range of affect within normal range (reactive), blunted (reduced
intensity of expression) or flat (very little expression of emotion). Labile
mood refers to a fluctuating mood state that alternates between
extremes.

Thought Form Is it logical or is it disorganised and erratic such as
tangential thinking, loosening of association, flight of ideas etc.

Thought Content This includes delusions, abnormal beliefs and
overvalued ideas. The delusions may be primary or secondary, mood
congruent or incongruent and bizarre or non-bizarre.
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Perception This includes any form of hallucination, what modality is it
in, are they Hypnagogic or hypnopompic or neither etc.

Cognition Usually an MMSE should be done to assess orientation,
registration, attention, calculation, language, executive functioning and
visuospatial skills.

Insight The patients understanding of their illness as well as the
recognition of the need of treatment. This may range from complete
denial to a genuine understanding and acceptance. Important questions
should include does the patient think they have a mental illness?; does
the patient feel ill?; and would the patient accept treatment?

6. An awareness of the risk factors and principles of acute management
for suicide, self-harm, neglect and harm to others

7. Carry out a clinical risk assessment on a patient with a common
psychiatric disorder

A risk assessment is very important to not only check for a risk of self
harm but also for harm to others or property. Currently psychiatry is bad
at getting this right so results should be used in combination with a
comprehensive assessment. The following areas should be considered:
Self-harm and Suicide risk factors include being male, aged 19-
34, divorced>widowed>single, unemployed/retired, social class 5,
living alone, social isolation, psychiatric illness, previous self harm,
alcohol abuse, physical chronic illness (often painful), family history.
Intent can also be assessed and this includes if the attempt was
planned, were precautions taken to avoid discovers, was a
dangerous method used, was help sought afterwards etc.

Self Neglect Partly the risk factors above but also depression and
psychiatric illness that affects cognition/memory

Exploitation are they are risk from exploitation (either from
random people in mania or from family and friends i.e. financially).

Deterioration Are they are risk of getting worse if no treatment is
given

Violence and Aggression either are they at risk to others or are
they at risk from others.

Children what age are the children, has the patient ever had any
command hallucinations or thought of harming them
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Property and Driving risk from arson, accidental damage, driving
whilst on medication, trying to kill themselves using a car
(endangering others)

8. Reflect on the impact of a patients, carers or colleagues actions on
ones own emotional and behavioural responses

9. A basic understanding of the structure and delivery of psychiatric
services in the UK

psychiatric disorder (duplicate of 7)

11. Recognise the limits of their own professional competence and seek
appropriate supervision

Psychosis

1. Knowledge of the epidemiology, aetiology and prognosis of psychosis

Epidemiology
incidence = 5-50/100,000 individuals per year and prevalence is
around 1%. Lifetime risk is around 1%.
Age of onset is between late teens and mid 30s. Women have a
later onset than men. Men: 18-25, Women: 25-35
Men and women have an equal incidence but the difference is hard
to compare due to differences in age of onset
There is an increased prevalence in lower socioeconomic classes
(class IV and V). A theory to explain this may be that psychosis
leads to a drift down the social economic scale. There is a higher
prevalence in urban areas compared to rural
Incidence is higher for immigrants, especially African-caribbeans in
the UK

Aetiology
Genetic Schizophrenia runs in families with a 50% concordance
rate for monozygotic twins compared with dizygotic twins (10%).
This is also supported by adoption studies.
Developmental factors May be linked to complications during
pregnancy and birth. An observation that more schizophrenics are
bored in late winter or spring suggests that second trimester
influenza infection may play a role
Page | 8

Brain abnormalities Imaging has shown structural and functional
changes in the brain. These finding may be secondary to the
condition or in fact its treatment. Changes included ventricular
enlargement (associated with negative symptoms) and reduced
brain size (frontal and temporal lobes, hippocampus, amygdala,
parahippocampal gyrus).
Neurotransmitter abnormalities Schizophrenia is thought to be
due to over activity of the mesolimbic dopamine pathway. Drugs
that potentiate this pathway (amphetamines and antiparkinsonian
drugs) are known to produce psychotic symptoms.
Life events Stressful life events often occur before the first
psychotic episode or recurrence and therefore may precipitate the
illness. It may however be the early stages of illness that cause
these stressful events
Expressed emotion When carers/family become over involved,
over critical or hostile towards psychotic patients then they are
more likely to relapse.

Prognosis
Generally the disease is chronic and shows a remitting and
relapsing pattern. About 20% have a single lifetime episode without
relapse.
More than 50% of patients have a poor outcome characterised by
repeated psychotic episodes with hospitalizations, depression and
suicide attempts.
About 10% of schizophrenic patients will successfully commit
suicide. The most at risk are young, well educated men who have
good insight into their disease. The period after discharge is the
most vulnerable.
Schizophrenic patients, on average, live 10 years less than the
general population
The prognosis is generally better in developing countries where
there may be better family support.
Factors associated with a good prognosis are: female sex, married,
older age of onset, abrupt onset, onset precipitated by life stress,
short duration of illness prior to treatment, good response to
medication, paranoid subtype, absence of negative symptoms,
prominent mood symptoms or a family history of mood disorder,
good premorbid functioning.

2. Knowledge of clinical presentation, including an understanding of the
ICD-10 diagnostic criteria, of psychosis

Psychosis can present with many symptoms including delusions,
hallucinations, psychomotor abnormalities, mood/affect disturbance,
cognitive deficits and disorganised thoughts and behaviour.
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Perceptions hallucinations occur in the absence of physical stimuli and
appear as if real to a patient. Therefore patients often have little insight
into these. They occur in one of the five senses and are not ideas,
thoughts or images arising in the patients own mind. Illusions are a
distortion of a real external stimulus and occur in healthy adults.
Pseudohallucinations are hallucinations that arise from the patients inner
eye and not through a sensory organ.

Auditory hallucinations Simple unstructured sounds or single words are
more indicative or an acute organic state. Second person voices are often
associated with mood disorders with psychotic features so are often
critical or persecutory, i.e. mood congruent. Other forms include third
person hallucinations and audible thoughts.

Visual hallucinations These are rarer than auditory and occur more often
in organic disorders or with psychoactive substances.

Somatic hallucinations Sensations of bodily sensation and include:
tactile which is the skin being touched. This includes formication which is
the sensation of insects crawling on the skin, often associated with long
term cocaine use or alcohol withdrawal. Other types include thermal,
hygric (fluid), visceral and kinaesthetic.

Others Hypnagogic hallucinations occur as a person is falling to sleep
where as hypnopompic hallucinations occur as a person is waking up.
Extracampine hallucinations occur outside of the patients body.

Thought disorder

Abnormal beliefs and delusions A delusion is an unshakeable false belief
that is not accepted by other members of the patients culture. The belief
is as real as a true belief to the patient and is false due to faulty
reasoning. This also out of keeping with the patients social and cultural
background. Delusions are usually classified as: primary/secondary, mood
congruent/incongruent, bizarre/non-bizarre and according to content.

Primary delusions are delusions that do not occur in response to any
other psychopathology. They typically occur in schizophrenia and
other primary psychotic disorders.
Secondary delusions are the consequences of a pre-existing
psychopathological state; usually mood disorders.
Mood congruent/incongruent and bizarre/non-bizarre are self
explanatory.
Delusion by content there are many forms of delusional content
which included:
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1) Persecutory, 2) Grandiose thinking you are extremely powerful, 3)
delusions of reference thinking objects , people or events have
intense personal meaning (e.g. the news reader is referring to you), 4)
Religious, 5) delusions of love (erotomania), 6) delusions of infidelity,
7) delusions of misidentification, 8) nilhilisitic delusions are false beliefs
that the world is about to end or they do not exist, 9) somatic e.g your
bowels are rotting away, 10) delusions of infestation, 11) delusions of
control includes thought insertion, withdrawal and broadcasting

Overvalued ideas A plausible belief that the patient is preoccupied
with to an unreasonable extent. They must have a significant impact
on the patients life and are distinguished from obsessions as they are
not recurrent intrusions. Typical disorder that features these include
anorexia nervosa.

Disorganised thinking the following are important signs of
disorganised thinking:
Circumstantiality and tangentiality speech that is delayed in
reaching its final goal because of the over inclusion of detail but
does eventually get to the point. Normal people may exhibit
circumstantiality but tangentiality is pathological as the speaker
never returns to the point.
Flight of ideas A stream of connected concepts through words,
puns or clang association.
Loosening of association (derailment or knights move thinking)
when a patients speech moves from one loosely or unrelated
topic to the next. Can be characteristic of schizophrenia.
Thought blocking stopping mid-sentence and then having no
recall of what they were saying and talk about a new topic.
Perseveration the unnecessarily repeating of words or
syllables. Palilalia describes the repeating of the last word of the
sentence. This is highly indicative of an organic brain disorder.
Echolalia senselessly repeating words or phrases spoken to
them

Negative symptoms These are a clinical deficit and include marked
apathy, poverty of thought and speech, blunting of affect, social isolation,
poor self care and cognitive deficits.

Psychomotor function Patients may present with some affect on motor
function, usually due to side effects of medication. However these can
occasionally occur which are not caused by medication or organic brain
disorder. Conditions include rigidity, stupor and tics.

ICD-10 Schizophrenia: One or more of the following:
Thought echo, insertion, withdrawal or broadcast
Delusions of control or passivity
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Hallucinatory voices giving a running commentary discussing the
patient amongst themselves
Bizarre delusions
OR
Two or more of the following:
Hallucinations that either occur every day for weeks or that are
associated with fleeting delusions or sustained overvalued ideas
Thought disorganisation (loosening of association, incoherence or
neologism)
Catatonic symptoms
Negative symptoms
Change in personal behaviour (loss of interest, aimlessness or social
withdrawal)
All symptoms should be present for most of the time during at least 1
MONTH. Schizophrenia should not be diagnosed in the presence of organic
brain disease or drug intoxication/withdrawal.

First rank symptoms
Thought insertion, broadcast or withdrawal
Hallucinations of 3
rd
person, running commentary or thought echo
Somatic hallucinations, delusions of control/passivity, delusions of
perception

Schizophrenia Subtypes

Paranoid dominated by delusions and hallucinations. Negative
symptoms and catatonic symptoms as well as thought disorder are
not prominent. Better prognosis and later onset
Hebephrenic thought disorder, disturbed behaviour and
inappropriate/flat affect. Delusions and hallucinations are fleeting
and onset of illness is earlier with a poorer prognosis
Catatonic characterised by one or more catatonic symptoms
Residual 1 year of predominantly chronic negative symptoms
preceded by one clear cut psychotic episode
Post-schizophrenia depression follows a schizophrenic episode but
has few characteristics of schizophrenia.
Simple insidious onset with signs of residual depression without a
psychotic episode to precede it. Mostly negative symptoms

Schizophrenia-like psychotic disorders

Schizoaffective schizophrenia plus mood symptoms (depression or
mania) that present in the same episode of illness (within a few
days). The mood symptoms should meet the criteria for
depression/mania and the patient should have one or preferably
two core symptoms of schizophrenia.
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Delusional disorder a set or single delusion for at least 3 months
which is the predominant symptom. Typical schizophrenia delusions
such as control or passivity will exclude this diagnosis.
Hallucinations may be fleeting and there may be brief depressive
episodes. On the whole the patient will function well both socially
and personally.

3. A basic understanding of the importance of therapeutic engagement,
including factors which may affect engagement

4. Knowledge of the physical, psychiatric, and social consequences of
psychosis, including stigma

5. Knowledge of the indications for antipsychotics

Before starting antipsychotics it is important to ask about diabetes,
hypertension and cardiovascular disease (and any family history of
these). Advice on diet, weight control and exercise should also be given.
Baseline tests include weight, fasting blood glucose, lipid profile, FBC, and
ECG. 6 monthly monitoring is also essential of LFTs, U&Es, prolactin,
weight and Hb
a1c
. More regular monitoring is required with Clozapine.

NICE recommends the use of atypical antipsychotics for all new patients
or those who are suffering from side effects of typical antipsychotics.
Typical antipsychotics are effective at treating positive symptoms but can
fail to treat or even worsen negative symptoms. They are also associated
with extra-pyramidal side effects (EPSE), neuroleptic malignant syndrome
and hyperprolactinaemia.
Atypical antipsychotics are at least effective as typical antipsychotics in
treating positive symptoms and may improve negative symptoms, mood
symptoms and perhaps even cognition. They are less likely to cause EPSE
and tardive diskinesia and so improve compliance.

Clozapine, quetiapine and, to a less extent, Olanzapine are prolactin
sparing. However antipsychotics do still cause many side effects. These
include:
Agranulocytosis Clozapine
Diabetes, weight gain, lipid abnormalities Clozapine, Olanzapine
and quetiapine
Increased prolactin levels risperidone and amisulpride

No atypical antipsychotics have shown to be more effective than another
except Clozapine which is used for treatment resistant schizophrenia (a
lack of satisfactory clinical improvement despite the sequential use of at
least two antipsychotics for 6-8 weeks, one of which should be an
Page | 13

atypical). Clozapine is not used first line due to the risk of potentially fatal
agranulocytosis.

Compliance is often poor (up to 80% of patients failing to use medication)
and so depot injections may provide a solution in some cases. The length
of treatment varies and patients may be able to withdraw gradually after
6-8 months of treatment. However medication remains a lifelong
treatment for most patients.

Other side effects include an increased risk of cardiovascular events when
used to treat the behavioural problems in dementia patients (Olanzapine
and risperidone). A fatal prolongation of the QT interval can also occur
with multiple antipsychotics. Olanzapine and Clozapine can lead to a
drastic gain in weight which needs to be monitored.

A survey of consultants showed that most would like to be treated with
risperidone if they personally were diagnosed with psychosis.

Other Medications

Benzodiazepines can provide short term relief of behavioural
disturbances, insomnia, aggression and agitation but do not have any
specific antipsychotic effects. Antidepressants such as lithium can be used
to augment antipsychotics in treatment resistant cases, especially when
there are significant affective symptoms. ECT is now rarely used.

6. Knowledge of the indications for psychological interventions in
psychosis

There are many psychological treatments that can be used in combination
with drug therapy. Until recently psychotic disorders were thought to be
unresponsive to psychological interventions.

Cognitive behavioural therapy effective at reducing symptoms and
helping patients with poor insight to come to terms with their
illness. This helps increase compliance with medication
Family psychological interventions focus on alliance building,
reduction of expressions of hostility and criticism, setting of
appropriate expectations and limits, and effecting change in
relatives behaviour and belief systems. This has been shown to
reduce relapse and admission rates
Support, advice, reassurance and education to both patients and
carers cannot be over emphasised
Social-skills training can help increase competence and help with
adaptive functioning in the community
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Psychodynamic psychotherapy is not generally used with
schizophrenia

7. Knowledge of the indications and practical implementation of social
interventions in psychosis

Other issues, besides drugs and psychological treatments, need to be
addressed to enable rehabilitation into the community. This includes
finance, occupation, accommodation, daytime activities, social support
and support for carers.

All patients with schizophrenia should be assessed for the care-
programme approach (CPA) to maximise the coordination in delivery of
services. Community psychiatric nurses (CPNs), psychiatrists, OTs,
psychologists or social workers can be appointed as care coordinators and
their primary role is to coordinate the multifaceted aspects of patients
care and to monitor mental state and compliance with medication.

8. Develop a structured targeted management plan for an individual
patient with psychosis

9. Carry out a clinical risk assessment on a patient with psychosis

10. Recognise the psychopathology of psychosis

11. Employ a professional approach to distressed patients and carers

12. Act respectfully towards patients, carers and colleagues at all times

13. Show a non-judgemental approach to psychiatric disorders

(duplicated of 11)

15. Act respectfully towards patients, carers and colleagues at all times
(duplicated of 12)

16. Show a non-judgemental approach to psychiatric disorders
(duplicated of 13)

(duplicated of 11)

18. Work therapeutically with patients, taking into account a persons
unique socio-cultural background

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19. Interview a patient in a professional manner and instil therapeutic
optimism (duplicate of 2 previous section)

20. An awareness of ethical and legal principles in clinical practice,
including the mental health act and mental capacity act

21. Explain the aetiology, bio-psycho-social management plan and
prognosis for psychosis to a patient, carer or colleague

(duplicate of 4 previous section)

Antipsychotics

1. Knowledge of the indications. Mechanism of action and side effects of
antipsychotics

The typical antipsychotics largely target the D2 dopamine receptor in the
brain and cause its blockade. However these drugs often lead to serious
side effects and extra-pyramidal symptoms. These are related to
dopamine blockade in other areas of the brain. The atypical antipsychotics
have relatively little action at the D2 receptors and have few EPSEs.
These newer antipsychotics also can have the ability to block serotonin 2A
(5-HT2a) receptors.

Typicals

Phenothiazines e.g. chlorpromazine
Butyrophenones e.g. haloperidol
Thiozanthenes e.g. flupentixol

Atypicals

Dibenzodiazepines e.g. Clozapine
Thienobenzodiazepines e.g. Olanzapine
Benzisoxazoles e.g. Risperidone
Dibenzothiazepines e.g. Quetiapine
Substituted benzamides e.g. amisulpride

Indications

Psychiatric
Schizophrenia, schizoaffective disorder, delusional disorder
Depression or mania with psychotic features
Psychotic episodes secondary to medical conditions or psychoactive
substances
Page | 16

Delirium (caution in alcohol withdrawal as lowers seizure threshold)
Behavioural disturbances in dementia
Severe agitation, anxiety and violent or impulsive behaviour

Non-psychiatric
Motor tics
Nausea and vomiting e.g. prochlorperzaine
Intractable hiccups and pruritus

Mechanism of action

Conventional antipsychotics (typical) these are thought to block D2
receptors in the mesolimbic pathway. Unfortunately they also affect D2
receptors in the rest of the brain resulting in their characteristic side
effects. Other side effects are caused by the blockade of muscarinic,
histaminergic and alpha-adrenergic receptors.

Newer antipsychotics (atypical) although their actions are diverse, they
mostly block both serotonin 2A receptors and dopamine D2 receptors.
They also have differing affinities to other receptors, such as the
muscarinics, which accounts for their varied side effect profiles.

Side Effects

Typicals:
Mesolimbic pathway treatment of psychotic symptoms
Mesocortical pathway worsening of negative and cognitive
symptoms
Nigrostriatal pathway EPSEs
Tuberoinfindibular pathway Hyperprolactinaemia
Chemoreceptor trigger zone Anti-emetic effect
Anticholinergic dry mouth, constipation, urinary retention, blurred
vision
Alpha-adrenergic receptors postural hypotension
Histaminergic sedation, weight gain
Cardiac Prolongation of QT interval, arrhythmias, myocarditis,
sudden death
Dermatological photosensitivity, skin rashes
Others lowering of seizure threshold, hepatotoxicity, cholestatic
jaundice, pancytopenia, agranulocytosis
Neuroleptic malignant syndrome

Atypicals:
Clozapine agranulocytosis (1%) so regular FBC and white cell
count (first 18 weeks then 2 weekly until 1 year then monthly) are
essential, risk of seizures in high doses, hypersalivation, weight
gain, moderate risk of diabetes
Page | 17

Risperidone can cause EPSE in higher doses, weight gain and
increased prolactin
Olanzapine weight gain, sedation, high risk of diabetes
Amisupiride increased prolactin

patient with psychosis

Mood disorders, suicide and deliberate self harm

1. Knowledge of the epidemiology, aetiology and prognosis of mood
disorders, self harm and suicide

Epidemiology Depression and bipolar
Recurrent depressive disorder occurs in 10-25% of women and 5-
12% of men. The usual age of onset is a patients late 20s and is
twice as common in women (2:1)
Bipolar affective disorder occurs in around 1% of the population and
occurs, on average, at the age of 20. There is no variation between
the incidence in females and males
Cyclothymia occurs in 0.5-1% of the population and has an average
onset age of adolescence or early adulthood. Again there is no
difference in incidence between males and females
Dysthymia occurs in up to 3-6% of the population and has an
average age of onset in childhood, adolescence or early adulthood.
This condition is 2-3 times more common in females than males (2-
3:1)

Aetiology Depression

The monoamine theory suggests that depression is due to a shortage
of noradrenaline, serotonin and possibly dopamine. This offers an
explanation as to why antidepressants can be an effective treatment.
It is likely that GABA and various other peptides are involved, although
this has not yet been proven.
There is also a suggestion that depression may be linked with
abnormalities of corticosteroid regulation by the hypothalamic-
pituitary-adrenal axis, or to disturbances in the lipid constituents of
neuronal membranes.
Twin studies have demonstrated a genetic element to depression, with
a history of depression in first-degree relatives being a significant risk
factor.
Psychological and social factors are also likely to play a significant role
in depression. Families that show high expressed emotion and criticism
have been shown to increase the relapse of depression. The risk of
Page | 18

depression is also increased in patients with certain personality
disorders. Another risk is adverse life events such as divorce, job loss,
bereavement.
Vulnerability factors in women include having three or more children at
home under the age of 14, not working outside the home, lack of a
confiding relationship and loss of mother before the age of 11.

Prognosis Depression

Depression is usually self limiting, and without treatment a first
depressive episode will generally remit within 6-12 months. However
depression is chronic and relapsing and at least 60% of patients have a
further depressive episode with the risk of future episodes increasing with
each relapse.
Depression is one of the most important risk factors for suicide. Rate of
suicide are over 20 times greater in patients with depression compared to
the general population.

Aetiology Bipolar

The monoamine theory for depression is also applicable to elevated mood,
with manic episodes thought to be due to an increased central
noradrenaline or serotonin level.
Twin studies have shown strong evidence for a genetic component of
bipolar affective disorder. Concordance rates in monozygotic twins were
65-75% compared with 14% in dizygotic twins.
Significant life events and stress can also provoke the first manic or
hypomanic episode. However, unlike depression, there are no personality
traits strongly associated with the development of bipolar affective
disorder.

Prognosis Bipolar

The prognosis is generally poor as more than 90% of patients, who suffer
from a single manic episode, go on to have further episodes. The
frequency of these episodes varies greatly but the average is four
episodes in 10 years. 5-15% of patients have four of more episodes in 1
year which is termed rapid cycling and is associated with poor prognosis.
10-15% of patients complete suicide successfully.

Other mood disorders

Dysthymia and Cyclothymia

The extent to which these two conditions resemble depression and bipolar
is unclear. There are biological and genetic similarities between these
conditions.
Page | 19

Both conditions have an insidious onset and chronic course, often
beginning in childhood or adolescence. A significant number of patients
with Cyclothymia will go on to suffer more severe affective disorders,
most likely bipolar affective disorder. Dysthymia can coexist with
depression (double depression), anxiety disorders and borderline
personality disorders.

For suicide see objective 6

ICD-10 diagnostic criteria, of mood disorders

Feelings are a short-lived emotional state whereas mood describes a
patients sustained, subjectively experienced state of emotion over a
period of time. A depressed mood is when patients report feeling sad,
down in the dumps, or low in spirits and are unable to lift themselves out
of this mood. Its severity is often out of proportion to the stressors in
their surrounding social environment.
Two symptoms that are particularly important depressive features
commonly associated with depressed mood are:
A markedly reduced interest in almost all activities and a lack of
ability to derive pleasure from these activities that were formerly
enjoyed (anhedonia)
Lack of energy or increased fatigability on minimal exertion leading
to diminished activity (anergia).
It can be helpful to divide symptoms into cognitive, biological and
psychotic and severe motor symptoms.

Cognitive symptoms

These are thoughts that the patient has about themselves and the world
as well as global brain functioning. This includes:
Reduced concentration and attention
Poor self-esteem
Guilt about past minor failings and is disproportionate to the
original offence. May feel guilty about being depressed
Hopelessness

Biological symptoms

Some believe that a biological depression exists which is depression in
the absence of any external environmental cause. If a patient has 4 or
more of the following symptoms then it can be coded for in the ICD-10:
Loss of interest or pleasure in activities that are normally enjoyable
Reduced emotional reactivity
Early morning wakening
Page | 20

Depression worse in the morning
Psychomotor retardation or agitation
Marked loss of appetite
Weight loss of 5% in past month
Loss of libido

Psychotic and severe motor symptoms

In severe depressive episodes patients may suffer from delusion,
hallucinations or a depressive stupor; termed psychotic symptoms. These
delusions and hallucinations can be mood congruent or mood incongruent.
These are most often mood congruent so take the form of criticizing
voices or the smell of rotting flesh. Stupor may occur which is an extreme
unresponsiveness and lack of voluntary movement that can border on
mutism. Severe motor symptoms are more common in schizophrenia and
bipolar affective disorder but can occur in unipolar depression.

ICD-10 for depressive episodes

The following symptoms should be present for at least two weeks
At least two of the following core symptoms:
Depressed mood
Loss of interest and enjoyment
Reduced energy or increased fatigability
AND
At least two of the following:
Reduced concentration and attention
Reduced self-esteem and self-confidence
Ideas of guilt and unworthiness
Bleak and pessimistic views of the future
Ideas or acts of self-harm or suicide
Disturbed sleep
Diminished appetite

Severity
Mild: 4 or more symptoms
Moderate: 5/6 symptoms
Severe: 7 or more symptoms including all 3 core symptoms
Severe with psychotic symptoms
With somatic syndrome: 4 or more of the 8 biological symptoms

Mania

Mania is an elevated or irritable mood where the patient may often feel
high. Some patients become extremely irritable or suspicious and do not
enjoy the experience at all. They have a low frustration tolerance and any
thwarting of their plans can lead to a rapid escalation in anger or even
Page | 21

delusions of persecution. A mixture of manic and depressive symptoms is
diagnosed as mixed affective disorder.

Biological symptoms
Decreased need for sleep early warning sign and no associated
with fatigue
Increased energy goal directed energy and impaired judgement
can have disastrous consequences. The behaviour can become
repetitive, stereotyped and purposely even progressing to a manic
stupor. On examination the patient is unable to sit still, pacing
around, gesticulating expansively.

Cognitive symptoms
Elevated self-esteem or grandiosity extreme is delusions of
grandeur
Poor concentration highly distractible
Accelerated thinking may present with flight of ideas and
pressure of speech (need to express ideas and hard to interrupt)
Impaired judgement and insight

Psychotic symptoms
Disorders of thought form circumstantiality, tangentiality, flight of
ideas and secondary delusional thinking
Perceptual disturbances altered intensity of perceptions

ICD-10 does not specify a set number of symptoms but focuses on the
degree of psychosocial impairment. However the patient will usually have
an elevated or irritable mood with an increase in quantity and speed of
mental and physical activity.
Must be present for 1 week to diagnose mania

3. Knowledge of physical conditions that present with psychiatric
symptoms, including appropriate investigations for mood disorders

There are many conditions that cause low mood and these can be divided
into neurological, endocrine, infections, others and drugs.

Neurological MS, Parkinsons disease, Huntingtons disease, spinal cord
injury, stroke, head injury or cerebral tumours

Endocrine Cushings disease, Addisons disease, Thyroid disorders
Parathyroid disorders or menstrual cycle-related

Infections Hepatitis, infectious mononucleosis, Herpes simplex,
brucellosis, typhoid, HIV/AIDS or syphilis
Page | 22

Others Malignancies, SLE, rheumatoid arthritis, renal failure, porphyria,
vitamin deficiencies or chronic pain

Drugs
Antihypertensives: Beta-blockers, methyldopa, reserpine
Steroids: corticosteroids, oral contraceptives
Neurological drugs: L-dopa, carbamazepine, phenytoin,
benzodiazepines
Analgesics: Opiates, ibuprofen, indometacin
Psychiatric: antipsychotics
However it should be noted that many of these medical conditions can
cause a lot of suffering and a significant degree of this may cause
secondary depression for psychological reasons.

Assessment

Initially a clinical assessment should be conducted. The following
questions may be useful in eliciting the key symptoms of depression:
1) Have you been cheerful or quite low in mood or spirits lately?
2) Do you find that you no longer enjoy things the way you used to?
3) Do you find yourself often feeling very tired or worn out?
4) How do you see things turning out in the future?
5) Sometimes when people are depressed they have a poor sex drive.
Has this happened to you?

After this specialist investigations are needed. These included social,
psychological and physical aspects.

Social
Collateral information from the GP, CPN and family
Consider a home visit
Consider interviewing immediate family

Psychological
Ask patient to keep a mood diary
Use self report inventories for quantitative ratings of mood

Physical
Conduct a thorough neurological and endocrine system examination
to exclude all organic causes
Examinations also can help assess baseline values for medication,
assess renal and liver function and check for signs of neglect
Tests should include FBC, U&Es, LFTs, TFTs, calcium and ESR
Also if indicated: B12, folate, drug screen, ECG, EEG and CT head

Page | 23


5. Knowledge of the physical, psychiatric and social consequences of
mood disorders

for suicide, self harm, neglect and harm to others

Self harm

The motives for deliberate self harm are huge, with the majority of people
not intending to kill themselves. Such motives include emotional relief,
self punishment, attention seeking and even a way of self help by
channelling intolerable emotional experiences into a discrete physical
sensation.

Epidemiological risk factors:
Men are more likely to complete suicide but women engage in more
parasuicidal activity
Rates highest in men 19-34 years old
Divorced>widowed>single
Social class V
Living alone

Clinical risk factors:
Psychiatric illness
Previous deliberate self harm
Alcohol dependence
Physical illness especially terminal illness and debilitating or
chronically painful conditions
Family history of depression, alcohol dependence or suicide
Recent adverse life-events (especially bereavement)

Psychiatric illness

About 90% of patients who commit suicide have a diagnosable psychiatric
disorder but only 25% of these are in contact with services. Patients who
have recently been discharged from hospital are a very high risk group.
Depression most common (50-80% of completed suicides) with
15% lifetime risk
Schizophrenia 10% lifetime risk (highest in young, intelligent,
unemployed males with good insight)
Alcohol dependence 3-4% lifetime risk
Personality disorders high risk
Page | 24

Organic brain disease 5% of all completed suicides
Anxiety and eating disorders Increased risk

Suicidal Intent

There are certain aspects of a suicide attempt that suggest the person
has a serious wish to end their life rather than a cry for help.
1) The attempt was planned in advance
2) Precautions were taken to avoid discovery or rescue
3) A dangerous method was used e.g. firearms
4) No help was sought after the act

Management

Initially a mental state examination should be done in a calm, quiet and
confidential setting. It is also important that the patient has had a chance
to rest and is not under the influence of any drugs or alcohol. It is also
vital to carry out an extensive risk assessment. The following should then
be assessed:
Current mood state is there any regret or ongoing suicidal
ideation. Features of hopelessness or worthlessness are associated
with higher risk of suicide
Ascertain protective factors anything to stop the patient doing it
again i.e. not wanting to leave their kids alone
Check for an undiagnosed mental illness especially depression,
schizophrenia, alcohol dependence and personality disorders.
Social support what do they have available to them if discharged,
do they have the ability to cope?

After the hospital has initially managed and stabilised the patient it must
be considered whether an inpatient stay is needed or if they can be
released back into the community and followed up by a CPN.

Prevention

There are many things that can be done long term to help reduce the risk
of suicide. Such things include:
Eat healthily and exercise regularly
Avoid alcohol or stick to your recommended units
Don't use drugs to cope (unless prescribed)
Avoid isolation
Stay positive

7. Knowledge of the treatment strategies for, physical, psychiatric and
social consequences of harmful use of and dependence on alcohol and
other drugs
Page | 25

Substance dependence describes a syndrome that incorporates
physiological, psychological and behavioural elements. A patient
exhibiting either tolerance or withdrawal is said to be dependent.
Dependence syndrome is diagnosed if three or more of the following have
been present during the previous year.
1. A strong desire or compulsion to take the substance
2. Difficulties in controlling substance taking behaviour
3. Physiological withdrawal state when reducing dose, or continuing to
use substance to avoid this state
4. Signs of tolerance: increased quantities needed to provide the same
effect originally produced by a lower dose
5. Neglect of other interests and activities due to time spent acquiring and
taking substance or recovering from its effects.
6. Persistence with substance use despite clear awareness of harmful
consequences.

Treating alcohol withdrawal

Firstly note that not all dependent patients will experience significant
withdrawal symptoms. The treatment of withdrawal is commonly termed
detox. The following should be regarded:
It should be possible to safely and effectively detoxify most patients
in the community as an out-patient over the course of 1 week.
Contraindications to this include severe dependence, a history of
withdrawal seizures or delirium tremens, an unsupportive home
environment and a previously failed community detoxification. In
this case an in-patient stay is advised.
To ameliorate severe symptoms and reduce the risk of
seizures/delirium, a drug with cross tolerance to alcohol is used
(usually diazepam or lorazepam). High doses are initially given and
then tapered down over 5-7 days.
In order to avert a Wernickes encephalopathy it is wise to give
thiamine (vitamin B1) supplements daily (100mg).

If delirium tremens develops then emergency hospitalisation is essential.
Firstly search for medical complications including infection, head injury,
liver failure, GI haemorrhage or Wernickes encephalopathy. Then give
large doses of drugs with alcohol cross tolerance, large doses of
parenteral thiamine and consider antipsychotics for only severe psychotic
symptoms (lowers seizure threshold). There is also a risk of
hyperthermia, dehydration, hypoglycaemia, hypokalaemia and
hypomagnesaemia so these should all be monitored. Wernickes
encephalopathy can also lead to Korsakoffs syndrome (amnesia 80%).

Maintenance

Page | 26

Detox does not remove any addiction but simply helps the patient
manage with withdrawal symptoms. Therefore it may be necessary to
provide further support to prevent re-drinking.
Disulfiram (Antabuse) block alcohol oxidation and leads to an
accumulation of acetaldehyde. This leads to anxiety, flushing,
palpitations, headaches and a choking sensation within 20 minutes.

Psychosocial interventions

Motivational interviewing and the application of Prochaska and
DiClementes stages of change model, which moves patients
through a cycle of change from precontemplation to
contemplation to determination to action to maintenance.
CBT
Group therapy
Alcoholics anonymous is a 12 step programme that may be used
Social support: social workers, probation officers and citizens advice
agencies can all help
Primary prevention: increasing the cost of alcohol through taxation
appears to be the most effective strategy in reducing overall
consumption. Limiting availability, curtailing advertising and health
education seem less effective measures.

Course and Prognosis

Alcohol dependence has a variable course and is characterised by many
relapses. However highly functioning individuals show a higher than 65%
1-year abstinence rate following treatment. Good prognostic indicators
include a stable relationship, employment, stable living conditions, good
insight, good motivation and good social support.
Alcohol-dependent individuals have a 3.6 fold excess mortality compared
with age-matched controls. The lifetime suicide risk is 3-4% which is 60-
120 times that of the general population.

Other Psychoactive Substances

Opiates

Patients should be educated about harm minimisation including the
risk of using contaminated injecting equipment (HIV, hepatitis B
and C, infective endocarditis etc) and unsafe sexual behaviour.
Clean needles and injecting equipment, hepatitis B vaccination and
condoms should be offered.
Withdrawal can be distressing but is not life-threatening and may be
attempted in mild to moderate dependence. The symptoms may be
ameliorated by lofexidine, a centrally acting alpha-adrenoceptor
agonist that reduces sympathetic outflow.
Page | 27

Patients can be offered maintenance opiates if severely dependent.
This is done by converting to a longer acting oral opiate methadone.
This helps stabilise a users life and withdraws the complication of
injecting. A urine drug screen is needed initially to determine the
level of dependence.
Methadone can be used indefinitely but the dose should be aimed to
be reduced over time.
Sublingual buprenorphine (subutex) is a partial opiate agonist and
is also used as a substitute therapy for patients with moderate
dependence. Because it is a partial agonist it may cause withdrawal
in patient who are highly dependent (>30mg daily).
Once detoxified a drug called naltrexone (an opiate antagonist) can
be used to block the euphoric effects of continued opiate use.
Psychological interventions are also vital to good therapeutic
outcomes and include motivational interviewing, CBT and social
support.

Benzodiazepines

As with alcohol, withdrawing from benzodiazepines can be fatal and
lead to hallucinations, convulsions and delirium. Initially patients
should be converted from short acting compounds (e.g. lorazepam)
to longer acting compounds (usually diazepam). Doses are then
reduced very slowly by a small amount each week.

Cocaine and amphetamine

Both cocaine and amphetamine can be stopped abruptly.
Antidepressants may help the ensuing depressed mood that follows
withdrawal.
Psychotic disorders induced by these drugs benefit from
symptomatic treatment with short courses of benzodiazepines and
antipsychotics.

8. Knowledge of the indications, mechanism of action and side effects of
antidepressants, mood stabilisers and ECT

Antidepressants will be talked about in psychopharmacology 2:
antidepressants.

Mood stabilisers

This includes lithium and the anticonvulsants valporate and
carbamazepine. Other anticonvulsants such as lamotrigine, gabapentin,
vigabatrin and topiramate are currently being investigated for mood
stabilising properties.
Page | 28

Mechanism of action

It is currently not known how mood stabilisers actually work. Lithium is
thought to modulate the neurotransmitter induced activation of second
messenger systems. Valporate and carbamazepine may exert their effect
via the GABA system: carbamazepine is a GABA agonist and valporate
inhibits GABA transaminase.

Indications

Lithium is used in the treatment of: acute mania, prophylaxis of
bipolar affective disorder, treatment resistant depression (lithium
augmentation), others adjunct to antipsychotics in schizoaffective
disorder and schizophrenia, and aggression/impulsivity.

Valporate is used in the treatment of: epilepsy, acute mania,
prophylaxis of bipolar affective disorder.

Carbamazepine is used in the treatment of: epilepsy, prophylaxis of
bipolar affective disorder (if unresponsive to lithium), rapid cycling
bipolar disorder, others: treatment resistant mania, depression or
schizophrenia, trigeminal neuralgia, impulse control disorders.

Side effects and contraindications

All these medications have multiple drug interactions so the BNF should
be consulted before new medications are introduced.

Lithium: lithium has a narrow therapeutic range (0.5-1 is therapeutic,
>1.5 is toxic and >2 is dangerous). Lithium is also excreted almost
entirely by the kidneys so clearance is decreased with renal insufficiency
and sodium depletion. Drugs such as diuretics, NSAIDS and ACEIs can
also increase lithium levels. Antipsychotics can also increase lithium
neurotoxicity and so should be combined cautiously. Prior to therapy the
following investigations are needed: FBC, GFR, U&Es, TFT, ECG and
pregnancy test.
Blood levels are monitored weekly until a therapeutic level has been
stable for 4 weeks. Then bloods should be checked every 3 months, renal
function every 6 months and thyroid function every year.
Contraindications include pregnancy, renal insufficiency, thyroid disease,
cardiac conditions, neurological conditions (e.g. Parkinsons or
Huntingtons).
Side effects: thirst, polydipsia, polyuria, weight gain, oedema, fine
tremor, worsening of skin problems, concentration problems,
hypothyroidism, impaired renal function, t-wave flattening or inversion,
leucocytosis, teratogenicity.
Page | 29

Toxicity signs include nausea, vomiting, apathy, ataxia, muscle weakness,
impaired consciousness, dysarthria, oliguria, hypotension, convulsions
and coma.

Carbamazepine and Sodium Valporate

Liver function tests and haematological functions should be checked prior
to and soon after starting these drugs due to the risk of serious blood and
hepatic disorders.
The side effects are:
Valporate: increased appetite, weight gain, ankle swelling, hair loss,
nausea and vomiting, tremor, haematological abnormalities, raised
liver enzymes
Carbamazepine: nausea, vomiting, skin rashes, blurred or double
vision, ataxia, drowsiness, fatigue, hyponatraemia, fluid retention,
haematological abnormalities, raised liver enzymes

ECT

Indications

ECT is mostly used for depression although antidepressants are usually
first line treatment. ECT is considered for the following forms of
depression:
With life-threatening poor fluid intake
With strong suicidal intent
With psychotic features or stupor
When antidepressants are ineffective or not tolerated
ECT can precipitate a manic episode for bipolar patients but is also an
effective treatment in established mania. ECT can also be used for certain
types of schizophrenia, specifically catatonic states, positive psychotic
symptoms and schizoaffective disorder. ECT is also used in puerperal
psychosis (new mothers) to rapidly reunite her with her baby.

Mechanism of action

ECT is administered 2-3 times per week and most patients need 4-12
treatment. An anaesthetist gives a short acting inducing agent and
muscle relaxant that ensures about 5 minutes of general anaesthesia.
Electrodes are then placed bilaterally or unilaterally on the patients head
and an electric current of sufficient charge is delivered to affect a
generalized seizure lasting for 15 seconds or greater in duration.
It is not clear how ECT works. It causes a release of neurotransmitters in
the brain as well as hypothalamic and pituitary hormones whilst also
affective neurotransmitter receptors and second-messenger systems
thereby resulting in a transient increase in blood-brain barrier
permeability.
Page | 30

Side effects

The mortality is the same as any surgery under general anaesthetic. Loss
of memory is a common complaint, particularly for events surrounding
the ECT process. Some patients may have an impairment of
autobiographical memory.
Memory impairment can be reduced by unilateral electrode placement.
Minor complains such as nausea, confusion, headache and muscle pains
are experiences by 80% of patients. In patients on antidepressants and
antipsychotics a prolonged seizure may occur due to a lowered seizure
threshold.

Contraindications

There are no absolute contraindications to ECT. However some relative
contraindications include:
Heart disease
Raised intracranial pressure
Risk of cerebral bleeding
Poor anaesthetic risk

9. Knowledge of the indications, theories and practical implementation of
psychological interventions

There are three main types of psychological interventions that can be
used.

Counselling and supportive psychotherapy

This represents the least complex of the therapies available. It is usually
brief in duration and is recommended for clients with minor mental health
or interpersonal difficulties. It can also be used for grief or bereavement.
The emphasis relies on the client using their own strength with the
therapist being reflective and empathetic. This title also includes given
advice and information which is done by all healthcare professionals.
Counselling may be person centred where the therapist takes an
empathetic and reflective role and allows the client to discover their own
insights as they ultimately know best. Problem solving counselling is more
directive and focused as clients are actively assisted in finding solutions to
their problems.
There is evidence that this may help in anxiety and depression in primary
care but is not useful for more severe forms of these or other mental
disorders.

Page | 31

Psychodynamic/Psychoanalytic Psychotherapy

In this form of therapy it is assumed that mainly unconscious thoughts,
feelings and fantasies give rise to the distressing symptoms. These are
thought to arise in childhood if an individual does not progress through
the various stages of psychological development. The aim of this therapy
is to make the symptom causing unconscious processes conscious. It is
the therapists job to interpret these processes and help the patient
understanding in the context of a safe and caring environment.

The main principles of psychoanalytic psychotherapy are as follows:
Transference: where the patient inappropriately transfers feelings or
attitudes experienced in an earlier significant relationship onto the
therapist e.g. a patient becomes cold and angry to his therapist
whom he sees as uncaring, unconsciously reminding him of his
mother.
Counter-transference: This is the reverse of transference and is
when the therapist inappropriately transfers feelings or attitudes
experienced in an earlier significant relationship onto the patient.
Defence mechanisms: ways of defending ourselves from mental
pain or upset. These are used by everyone but can be maladaptive
if used in the wrong situation. One example is projection.

This form of therapy can be done with individuals, a couple or a group.
The sessions are usually once a week for 50 minutes. They can be open
ended or time limited depending on the severity and type of problem. If
the problem is thought to have a focus then it may be possible to work
within a shorter time frame, e.g. 6 months.

Cognitive Behavioural Therapy

This is a process based on the concept that the way individuals think
about/interpret things subsequently determines how they feel and
behave. Cognitive technique includes eliciting automatic thoughts and
dysfunctional assumptions and then testing their validity.
Automatic thoughts are the many thoughts that involuntarily enter an
individuals mind in response to a specific situation e.g. He doesnt like
me; Im such an idiot.
Dysfunctional assumptions are the faulty rules that individuals live by
which, when broken, lead to psychological distress e.g. If I dont come
first then I am completely useless. These can be challenged by
behavioural experiments.

CBT varies from psychodynamic/psychoanalytic therapy in the following
ways:
CBT tends to be time limited (12-25 sessions)
Page | 32

CBT is goal orientated and focuses on the presenting problem, and
hence is less concerned with how the problem developed
The client and CBT therapist are strongly collaborative in deciding
on the sessions agenda and case formulation
CBT involves the patient does homework assignments

Other Therapy

There a numerous other types of therapy which include:
Interpersonal therapy (IPT) evaluating social interactions and
skills
Group therapy provides a supportive and effective environment.
The patients see that they are not on their own
Family therapy focuses on the family as a whole to improve
communication and reduce conflict
Therapeutic communities cohesive residential units that consist of
about 30 patients for 9-18 months. The residents are encourage to
take responsibility for themselves during this time and are
particularly useful for personality disorders.

Indications of psychological treatment

Stressful life event Counselling
Depression CBT, IPT, group therapy,
psychodynamic therapy
Anxiety disorder and OCD CBT
PTSD Systematic desensitization,
hypnotherapy, psychodynamic
therapy
Schizophrenia CBT, family therapy
Eating disorder CBT, IPT, family therapy
Borderline personality disorder Psychodynamic therapy, therapeutic
communities, cognitive analytic
therapy
Alcohol dependence CBT, group therapy

10. Knowledge of the indications and practical implementation of social
interventions in common psychiatric disorders

patient with a mood disorder or self harm

12. Recognise the psychopathology of mood disorders
Page | 33

prognosis for mood disorders to a patient, carer or colleague


Psychopharmacology 2: Antidepressants

antidepressants

Indications

Firstly it should be noted that, although named antidepressants, these
drugs are used to treat a wide variety of disorders including depression,
anxiety and even eating disorders.

The large number of antidepressants out there gives physicians a lot of
options for treatment. Secondly, few antidepressants have been shown to
be more effective than another (apart from Venlafaxine which has been
shown to be slightly more effective). Therefore it is common to choose an
antidepressant based on its side effect profile rather than its efficacy.

An adequate dose for 4-6 weeks is usually enough to produce a response
in 60-70% of patients. When remission is brought about these drugs
should be continued for a further 6 months before being tapered off.

TCAs: Depression, anxiety disorders, OCD, chronic pain, nocturnal
enuresis, narcolepsy, eating disorders

SSRIs: Depression, anxiety disorder, OCD, bulimia nervosa

MAOIs: Depression (especially atypical hypersomnia, overeating,
anxiety), anxiety disorders, eating disorders, chronic pain

Mechanism of action

Each antidepressant class varies slightly in its mechanism of action.
However, what is common is that they all act to increase
neurotransmitters in the brain. This can be through the dopamine,
serotonin or noradrenaline pathway.

TCAs (e.g. amitriptyline): Presynaptically blockade both noradrenaline
and serotonin reuptake pumps (and dopamine to a lesser extent).
However they also blockade muscarinic, alpha-adrenergic and
Page | 34

histaminergic receptors which is the reason for their significant side effect
profile.

SSRIs (e.g. fluoxetine, citalopram): selective presynaptic blockade of
serotonin reuptake pumps

SNRIs (serotonin-noradrenaline reuptake inhibitors e.g. venlafaxine):
presynaptic blockade of both the noradrenaline and serotonin reuptake
pumps (also dopamine if using high doses). Negligible effects are had on
the muscarinic, histaminergic and alpha-adrenergic receptors.

MAOIs (monoamine oxidase inhibitors e.g. isocarboxazid): non-selective
and irreversible inhibition of monoamine oxidase A and B

RIMA (reverse inhibitor of monoamine oxidase A e.g. moclobemide):
selective and reversible inhibition of monoamine oxidase A

NaSSA (noradrenergic and specific serotonergic antidepressant e.g.
mirtazapine): presynaptic alpha 2 receptor blockade (results in increased
noradrenaline and serotonin from presynaptic neurons)

NRIs (noradrenaline reuptake inhibitor e.g. reboxetine): selective
presynaptic blockade of noradrenaline reuptake pumps.

Side effects and contraindications

TCAs
Most of the side effects of this class are related to their multi-receptor
blocking effect. Their sedative properties can also be of benefit to some
patients. Due to their cardio toxic effects they are particularly dangerous
in overdose, especially amitriptyline. Contraindications include a recent
MI, arrhythmias, severe liver disease and mania.
Side effects include:
Muscarinic: dry mouth, constipation, urinary retention and blurred
vision
Alpha-adrenergic: postural hypotension
Histaminergic: weight gain, sedation
Cardio toxic effects: QT interval prolongation, ST segment
elevation, heart block, arrhythmias

SSRIs
This class have fewer anticholinergic side effects and are less sedating
than TCAs. They are the class of choice in patients with heart disease or
those at risk of overdose, due to their absence of cardio toxic effects.
Contraindications include mania
Side effects include:
GI disturbance (early only): nausea, vomiting, diarrhoea, pain
Page | 35

Anxiety and agitation (early only)
Loss of appetite and weight loss (occasionally weight gain)
Insomnia
Sweating
Sexual dysfunction (anorgasmia, delayed ejaculation)

MAOIs/RIMA
This class is largely second line due to the extensive and serious risk of
interactions with foods and other drugs. This reaction results in the
accumulation of amine neurotransmitters and impairs the metabolism of
some amines found in drugs and foods (cheese reaction). This can lead to
a life threatening hypertensive crisis. Note, the early warning sign is a
throbbing headache. RIMAs are less likely to cause this effect as they
reversibly inhibit monoamine oxidase A. Therefore no dietary restrictions
are generally required with this class.

When administering this drug with other antidepressants with strong
serotonergic effects then there is a risk of developing a potentially lethal
serotonin syndrome. Therefore this class of drug should not be used for
2-3 weeks after stopping a previous antidepressant or before starting a
new one. Opiates should also be avoided with this class for the same
reason. Contraindications include phaeochromocytoma, cerebrovascular
disease, hepatic impairment and mania.
Side effects include: Similar to the TCAs and include postural hypotension
and anticholinergic effects.

Withdrawal

When withdrawing from antidepressants it is important that they are not
abruptly stopped. This may cause a discontinuation syndrome with GI
disturbances, agitation, dizziness, headache, tremor and insomnia. SSRIs
with short half lives and venlafaxine (SNRI) are particular culprits.
Therefore all antidepressants should be gradually tapered down. However,
note that this is not a dependence syndrome or addiction.

Personality Disorders

services in the UK

2. Knowledge of the normal psychological and behavioural responses to
life events

ICD-10 diagnostic criteria, of personality and somatisation disorders

Page | 36

Epidemiology

The prevalence of personality disorders is hard to measure as the case
definitions are often poor and a consensus is yet to be agreed. However it
is thought that the community prevalence is 4-13% (50-80% in prisons).
There are a wide range of personality disorders, each with a prevalence in
the general population of 1-3%.

Aetiology

The aetiology of personality disorders is not known but it is thought that
both genetic and environmental factors are important. There is strong
genetic evidence from twin studies and the fact that similar disorders (i.e.
schizotypal personality disorder and schizophrenia) run in families.
Others suggest that these problems may be neurodevelopmental
disorders, possibly within the autistic spectrum. There is evidence that
minimal brain damage can increase the risk of a personality disorder
which may be associated with EEG changes.
Low levels of serotonin, and the fact that some patients improve when on
SSRIs, indicates that neurotransmitters might have a significant influence
on personality.
A common theory is that of early adverse social circumstances being
associated with the development of a borderline personality disorder. This
may be physical, sexual or mental abuse. This may prevent the child from
progressing through the stages of psychosexual development with the
subsequent development of characteristic defence mechanisms.

Presentation

Personality as a term is hard to describe and there are over 100 different
definitions. The DSM-IV defines personality traits as enduring patterns of
perceiving, thinking about and relating to the environment and oneself
that are exhibited in a wide range of social and personal contexts. It is
only when these traits are persistently inflexible and maladaptive and
which cause personal distress, is a personality disorder said to exist.

Patients with personality disorders do not regard their behaviour and
coping style as abnormal and therefore will not present with that as their
primary complaint. Instead they usually present with a wide range of
problems e.g. self harm, depression, anxiety, violence, PTSD, disorderly
conduct etc. Such patients are also likely to have other mental illnesses
(30-60% of patients with a psychotic disorder also have a personality
disorder).

Classifications

Page | 37

Personality disorders are classified into two groups according to their
aetiology. The first is a group of acquired personality disorders where the
disorder clearly develops after, and is directly related to, a recognizable
insult. Organic personality disorder results when the insult is some form
of brain damage or disease. It is characterised by sexual inhibition and
abnormalities of emotional expression. The lesion is typically in the frontal
lobe. This category also contains people who have an enduring personality
change after experiencing a catastrophic event (i.e. hostage situation,
concentration camp).

The second group includes specific personality disorders where a casual
relationship with one specific thing is difficult to find (although genetic
and environmental factors may be implicated). These usually have their
onset in adolescence or early adulthood and have a fairly steady course.
The ICD-10 and DSM-IV use a categorical approach to classify these
disorders also patients are on a continuum so rarely fit into one specific
area. These categories are simplified further into three discrete clusters
based on general similarities.

Cluster A: odd or eccentric
Paranoid suspecting others of hurting/deceiving them, doubt
spouses fidelity
Schizoid emotional coldness, does not desire or enjoy
relationships, takes pleasure in few activities, indifferent to praise
or criticism
Schizotypal eccentric behaviour, odd beliefs or magical thinking,
unusual perceptual experiences, social withdrawal, ideas of
reference, circumstantial thinking

Cluster B: dramatic, emotional, erratic
Borderline unstable, intense relationships fluctuating between
extremes of idealization and devaluation. Unstable self image,
impulsive (sex, binge eating, substance abuse, spending money),
repetitive suicidal or self-harming behaviour, efforts to avoid
abandonment
Antisocial repeated unlawful or aggressive behaviour,
deceitfulness, lying, reckless, irresponsible, lack of remorse or
incapacity to experience guilt
Histrionic dramatic, exaggerated expressions of emotion,
attention seeking, seductive behaviour, labile shallow emotions
Narcissistic grandiose sense of self-importance, need for
admiration

Cluster C: anxious or fearful
Dependent excessive need to be cared for, submissive, need
others to assume responsibility for major life areas, fear of
separation
Page | 38

Avoidant hypersensitivity to critical remarks or rejection, fears of
inadequacy, inhibited in social situations
Obsessive compulsive preoccupation with orderliness,
perfectionism and control. Devoted to work at expense of leisure,
pedantic, rigid and stubborn. Overly cautious

Management

There is still considerable debate about how personality disorders should
be managed and by whom. A multidisciplinary approach is often essential
as psychological, social and biological treatment modalities all have an
important role.
Psychosocial interventions often include:
Assistance with social problems such as housing, finance and
employment
Supportive psychotherapy, providing an authority figure for
patients in a time of crisis
CBT can target specific symptoms or behaviours e.g. depression,
anxiety, anger or deliberate self harm
DBT was developed to treat borderline personality disorders and
has been shown to reduce parasuicidal behaviour and an
improvement in social and global functioning
Assertive community outreach programmes are often used for
chronic schizophrenia and bipolar patients
Group or individual psychodynamic therapy (discussed earlier)
Therapeutic communities may benefit highly motivated patients
Pharmacological treatments:
Mood stabilisers help with aggression, impulsivity and mood
instability
Antipsychotics help with psychotic symptoms, impulsivity and
aggression
Antidepressants help with OCD and depression
Benzodiazepines use with caution as may lead to dependence and
abuse. Useful to alleviate anxiety or to sedate an acutely agitated or
aggressive patient


Patients with personality disorders often have other psychiatric conditions.
These tend to have a more severe and worse prognosis than if the
personality disorder were not present. Patients with personality disorders,
particularly cluster B, also have a high risk of suicide or accidental death
than the general population.
Half of all borderline personality patients will show clinical recovery at 10-
25 years follow up. Antisocial personality disorders may improve with
time, particularly if they have formed a relationship with a therapist.
Schizotypal and obsessive compulsive personality disorders tend to be
Page | 39

stable over time, although schizotypal patients may go on to develop
schizophrenia.

Somatoform Disorders

These are a collection of mental disorders with features that are
suggestive of physical illness. However there are no detectable organic or
neurophysiological abnormalities to explain these symptoms. Note that
these symptoms are not under voluntary control and occur unintentionally
(unlike factitious and malingering disorders). Somatisation disorder and
hypochondrial disorder are the most common of these disorders.

Somatisation disorder

The main features are multiple, recurrent, frequently changing physical
symptoms. These include but are not limited to:
GI disturbances nausea, vomiting etc
Skin problems itching, burning, numbness etc
Sexual or reproductive problems loss of libido, erectile dysfunction
etc
Urinary problems dysuria, frequency, retention, incontinence
Neurological problems paralysis, visual loss, sensory loss etc
Patients should have numerous symptoms from almost all of these
systemic groups, not just a few isolated symptoms.

ICD-10 suggests the following should be present:
At least 2 years of symptoms with no adequate physical explanation
found
Persistent refusal by the patient to accept reassurance from several
doctors that there is no physical cause for the symptoms
Some degree of functional impairment due to the symptoms and
resulting behaviour

Most of these patients will have had a long history of contact with medical
services and multiple investigations. This can sometimes lead to
iatrogenic disease with explainable symptoms (e.g. adhesions from
exploratory surgery). These patients are also often dependent on many
medications, mainly painkillers and sedatives.

Hypochondrial disorder

In somatisation disorder patients express concern about numerous
physical symptoms, whereas in hypochondrial disorder patients
misinterpret normal bodily sensations and believe that they have a
serious and progressive physical disease.
Patients with this disorder may ask for investigations to definitely
diagnose a specific disease whereas patients with somatisation disorder
Page | 40

will ask for treatment to remove their symptoms. Hypochondrial patients
too refuse to accept reassurance from numerous doctors that they do not
suffer from a serious physical illness.

Body dysmorphic disorder is a variant of hypochondrial disorder where
patients excessively imagine or accentuate a slight defect in their
appearance.

Factitious disorder and malingering

In both these disorders physical or psychological symptoms are produced
intentionally. This can be extensive and even result in the patient taking
medication to mimic symptoms. In factitious disorder (Munchausens
syndrome) patients are focused on the gain of the sick role. This care
seeking behaviour is often a sign of psychological distress. Malingering
patients on the other hand are focused on the secondary external gain of
being diagnosed with a disease. This includes medication, benefits,
avoiding prison or military service etc. Munchausens syndrome can also
be by proxy, i.e. a parent poisons their child so they can take care of
them.

Epidemiology and aetiology

Somatisation disorder: 0.2-2% lifetime prevalence with usual onset
before 25, often in adolescence. Far more common in women (10:1)

Hypochondrial disorder: 1-5% lifetime prevalence with age of onset
usually in early adulthood. This occurs equally in men and women.

The aetiology is poorly understood although episodes commonly follow
the appearance of stressors. Somatisation disorder may, in part, be due
to genetics as up to 1/5 of sufferers 1
st
degree female relative also have
the condition.


Both disorders tend to have a chronic episodic course with symptoms
often exacerbated by stress.

Treatment

Medication will only help treat symptoms to which the patient has an
underlying condition, such as anxiety disorder. The most effective
strategy to help patients is to make appointments at fixed intervals rather
than seeing patients when requested. Limit special investigations and
medications unless really necessary. Help patients to think in terms of
Page | 41

coping with their problems rather than curing them. Finally try to involve
other family members in their care.

for suicide, self harm, neglect and harm to others

5. An awareness of the interaction between crime, the criminal justice
system, psychiatric disorders and psychiatric services

6. Recognise and explain the interaction between physical conditions and
psychiatric symptoms

Liaison Psychiatry


2. Produce a differential diagnosis for a psychiatric presentation

3. Justify the selection of appropriate investigations for common
psychiatric scenarios

common psychiatric disorders, including stigma


Eating Disorders

services in the UK

ICD-10 diagnostic criteria, of common psychiatric disorders

Weight loss can be deliberately intended or occur secondary to a
consequence of a medical conditions, psychiatric illness or use of a
substance. Two syndromes characterised by conscious and deliberate
attempts to reduce body weight are anorexia nervosa and bulimia
nervosa.

Anorexia nervosa and bulimia nervosa
Page | 42

The psychopathology in these two conditions takes the form of an
overvalued idea and is characterised by a dread of fatness resulting in
patients imposing a low target weight. This can be achieved through poor
calorific intake, self-induced vomiting, excessive exercise or the use of
drugs.

Anorexia: body weight maintained at least 15% below normal or a BMI
below 17.5kg/m
2
. There is also evidence of generalised endocrine
disturbances i.e. amenorrhoea in post-menarchal women, loss of sexual
interest, raised GH and cortisol, reduced T3. Pubertal events may be
delayed or arrested in certain age groups.

Bulimia: patients usually have a normal body weight. The characteristic
feature is a preoccupation with eating and an irresistible craving for food
that results in binge eating. This is associated with a feeling of lack of
control and inevitably feelings of shame and disgust. To counteract this
patients engage in purging (vomiting, laxatives and diuretic use), fasting
or excessive exercise. Russells sign (calluses on the back of hands when
the hand has been used to induce vomiting).

ICD-10 criteria for anorexia and bulimia nervosa
Anorexia: all of the following
Low body weight (BMI<17.5)
Self-induced weight loss
Overvalued idea
Endocrine disturbances (failure to make expected development if
prepubertal)

Bulimia: all of the following
Binge eating
Methods to counteract weight gain
Overvalued idea

Other symptoms and complications

Patients often complain of a low mood and anxiety. This may be
surrounding eating but can often be generalised. If these symptoms are
severe enough then they can be said to be co-morbid to the eating
disorder.

Complications: There are many, many complications related to starvation
and vomiting. Perhaps the one worth remembering is hypokalaemia with
repeated vomiting which can be life threatening. This should be treated
gradually and the patient should be encouraged to eat potassium rich
foods i.e. bananas.

Page | 43

Differentials

Almost any medical condition may lead to weight loss so this should be
considered before considering anorexia or bulimia. Other important
conditions are depression, OCD, psychotic disorders, dementia and
alcohol or substance abuse.


Both conditions have a female to male ratio of 10:1. Bulimia (3-5%)
tends to be more common than anorexia (1%) with an incidence of 12.2
per 100,000 compared with 4.2 per 100,000. Anorexia tends to onset in
mid to late adolescence and bulimia onsets slightly later at late
adolescence to early adulthood. Social economic class is no longer
thought to play a large role.

No cause for either anorexia or bulimia has been identified also both
biological and psychosocial factors have been implicated.

Genetics: Twin studies have shown higher incidences in monozygotic
twins. First degree relatives also have a higher incidence of eating
disorders as well as mood disorders. Neurotransmitter levels are also
thought to play a part as serotonin is thought to suppress food
consumption and some anorectics have been shown to have increased
concentrations.

Environment: Western culture undoubtedly plays a big part in both
conditions. With anorexia it is also thought that families, who are
overprotective, over involved, avoid conflict and are resistant to change,
may be at risk. Other theories suggest that sexual maturity presents a
conflict to anorectics so they avoid menstruation to stop a change in body
shape. With bulimia it is clear that a past history of dieting increasing the
risk of developing bulimia 8 fold. Perfectionism, low self-esteem, alcohol
abuse, substance abuse, personality disorders and depression are all
associated conditions.

Management

Anorexia: These patients are the hardest to treat due to their
ambivalence towards treatment coupled with the consequences of
starvation (poor concentration, lethargy, depression).
The first option is to educate patients about nutrition and
monitoring of weight (most useful in those who only diet
excessively). Their weight can be regularly monitored and self help
groups may be useful.
The preferred treatment is some form of brief outpatient
psychotherapy with the encouragement of family involvement.
Page | 44

Some of these options are: psychoeducation about nutrition and
weight (advice, education motivation), nutritional management and
weight restoration (negotiate target weight, eating plans, teaching
shopping and cooking skills), CBT (20-24 session exploring issues of
self control, low self-esteem and perfectionism, IPT (improving
social functioning and interpersonal skills), family therapy (affective
if living with family and onset before 18) and psychodynamic
psychotherapy (reserved for specialists in eating disorders).
There should be a low threshold for referral to a specialised eating
disorder unit, especially with patients who are resistant to out-
patient treatment and who have severe anorexia or poor prognostic
factors (long duration of illness, late age of onset, very low weight,
associated bulimic symptoms, personality difficulties, poor family
relationship, poor social adjustment).
Hospitalisation may be considered with very low weights
(BMI<13.5), rapid weight loss, electrolyte abnormalities
(particularly sodium and potassium), and syncope. Occasionally it
may be necessary to treat patients against their will and includes
nasogastric or IV feeding.
The use of medication is limited and special care should be taken in
patients with a very low weight. SSRIs may be useful for treating
co-morbid depression and OCD. Fluoxetine may be helpful in
maintaining weight gain and preventing relapse.

Bulimia: patients with bulimia tend to be more motivated to improve and
are usually a healthy weight. Treatment is mostly psychological and
ranges from psychoeducation, self help groups and manuals in mild cases,
to CBT and IPL in more serious cases. TCAs and SSRIs (fluoxetine 60mg)
have been shown to reduce bingeing and purging behaviours but
psychotherapy remains the treatment of choice. Co-morbid substance
abuse and depression are common so should be managed.

Prognosis

Anorexia: up to 50% of patients recover and return to a normal weight,
eating and menstruating. 25% of patients go on to develop normal weight
bulimia. A third of all patients fail to recover and the mortality is over
10% (the highest of all psychiatric disorders). Half of these deaths are
due to complications of starvation and a third are due to suicide.

Bulimia: the course is also variable but generally better than anorexia
with 50-70% if patients making a recovery after 2-5 years. There is no
increase in mortality. Poor prognostic factors include severe bingeing and
purging behaviours, low weight and co-morbid depression.

Page | 45

common psychiatric disorders, including stigma

other drugs


Psychotherapy

1. Knowledge of the indications, theories and practical implication of

2. Develop a structured management plan for an individual patient with a
common psychiatric disorder

Anxiety Disorders (including OCD)

1. Knowledge of the normal psychological and behavioural responses to
life events

2. Knowledge of the epidemiology, aetiology and prognosis of anxiety
disorders

Epidemiology

The anxiety disorders are the most prevalent of the psychiatric disorders
with a combined 1 year prevalence rate of 12-17%. However anxiety
disorders are generally under diagnosed in primary care or only
recognised years after onset.

Anxiety Disorder One Year
Prevalence
Age of Onset Sex Ratio
Generalised anxiety disorder 2.8% Childhood to late
adulthood
2-3:1
Panic disorder (+/- agoraphobia) 3.9% Late adolescence to mid
30s
2-3:1
Social phobia 3.7% Mid-teens Equal
Specific phobia 4.4% Childhood to
adolescence
2:1
PTSD 3.6% Any age after trauma 2:1
OCD 2.1% Adolescence to early Equal
Page | 46

adulthood

Aetiology

Genetic factors: these are thought to play some role in most anxiety
disorders. Panic disorder and OCD seem to be the most heritable anxiety
disorders with more than 1/3 of those affected having a 1
st
degree
relative who has had the same diagnosis. There is an association between
generalised anxiety disorder and relatives who abuse alcohol.

Biological factors: defects in neurotransmitter systems such as abnormal
receptors may contribute to the development of specific disorders (e.g.
panic disorder and serotonin levels). OCD is associated with
hypersensitivity of some serotonin receptors.

Social and psychological factors: anxiety disorders have been linked to
stressful life events. In PTSD a significant traumatic event is essential to
diagnosis. Psychosocial stressors may also precede the onset of
symptoms in other anxiety disorders. Some psychiatrists believe that
anxiety disorders are predominantly psychological in origin and are a
consequence of inappropriate thought processes and overestimations of
danger (hence why CBT is an effective treatment).

Above is the proposed vicious cycle in which patients get perpetually
stuck.

Course and prognosis

Prognosis of anxiety disorders varies greatly between individuals.
Generalised anxiety is likely to be chronic, but fluctuating, and often
worse in times of stress.
Page | 47

Up to of panic disorder patients may be symptoms free in 3 years
but 1/3 will have chronic symptoms that are distressing enough to
reduce their quality of life. Panic attacks are central to the
development of agoraphobia which usually develops within 1 year
after onset of recurrent panic attacks.
Social phobia is usually chronic although adults may have long
periods of remission. Life stressors may exacerbate symptoms
Specific phobias as less likely to remit if developed in childhood.
However less is known about this
50% of patients with PTSD will recover fully in 3 months but 1/3 of
patients will have severe-moderate symptoms in the long term. The
severity, duration and proximity of a patients exposure to the
trauma are the most important prognostic indicators.
Patients with OCD often have a chronic fluctuating course with
worsening symptoms during times of stress. About 15% of patients
show a progressive deterioration in functioning.

3. Knowledge of the clinical presentation, including an understanding of
the ICD-10 diagnostic criteria, of anxiety disorder

The experience of anxiety consists of two interrelated components:
thoughts of being apprehensive, nervous or frightened, and the
awareness of a physical reaction to anxiety. The experience of anxiety
may then lead to a change in behaviour and particularly the avoidance of
the real or imagined threat. There are two specific patterns of pathological
anxiety:
1) Generalised anxiety: does not occur in discrete episodes but rather
lasts for hours to days or longer and is mild-moderate in severity. There
is no association with a specific external threat or situation but rather an
excessive worry/apprehension about normal life events,
2) Paroxysmal anxiety: abrupt onset, occurs in discrete episodes and is
pretty severe. In the severest of forms it presents as panic attacks. These
episodes are usually less than an hour in duration, intense and a short
time between onset and peak. These are accompanied by autonomic
symptoms (tachycardia, palpitations etc) which may lead the patient to
think they are dying and so the vicious cycle repeats. This classification
can be further divided into those episodes without a stimulus (panic
disorder) and episodes with an external threat (phobic disorders).

Anxiety disorders

Phobic disorders: associated with a prominent avoidance of a feared
situation which can take the form of a panic attack:

Agoraphobia: the fear of public places or crowded spaces where
escape is not easy, especially if concerned about having a panic
Page | 48

attack. There is a close relationship between this and panic disorder
and 95% of patients with agoraphobia may have/had panic
disorder.

Social phobia: the fear of situation where the patient may come
under scrutiny by others leading to their humiliation or
embarrassment. This can also take the form of an isolated fear such
as public speaking.

Specific phobias: fear of certain situations. The following are the
most common in order of decreasing prevalence situational,
natural environment, blood/medical, animals, others (choking,
illness, AIDS etc)

Non-situational anxiety disorders: anxiety symptoms that are not
restricted to any specific situation or circumstance:

Generalised anxiety disorder: excess worry about minor matters on
most days for about 6 months. The ICD-10 criteria suggests three
keys elements apprehension, motor tension and autonomic over
activity.

Panic disorder: panic attacks that occur at random and are not
restricted to any particular situation. These are so distressing that
patients often develop a fear of having these attacks. Between
attacks patients are relatively free of anxiety.

Other psychiatric conditions: anxiety can occur secondarily to many
psychiatric conditions including anorexia (fear of weight gain),
somatisation, hypochondria (fear of serious illness), delusional
beliefs, depression, OCD. It is also worth noting that depression and
anxiety are linked and either one can lead to the other. It has also
been suggested that these are aetiologically related. Therefore it is
vital to consider which of these conditions came first and treat
appropriately.

There are a huge number of medical conditions and substances that can
lead to anxiety. These should be ruled out before deciding on a
psychological diagnosis.

OCD

Obsessions: involuntary thoughts, images or impulses which are
recurrent, intrusive, unpleasant and distressing. They enter the mind
against consciousness resistance and are recognised as being a produced
of the patients own mind.

Page | 49

Compulsions: repetitive mental operations or physical acts that the
patient feels propelled to perform to reduce anxiety through the belief
that something terrible will happen if they do not. These are not
realistically connected to the event or are ridiculously excessive. They are
experiences as unpleasant and serve no purpose except to decrease
anxiety.

ICD-10 criteria are as follows:
Obsessions or compulsions must be present for at least 2 successive
weeks and are a source of distress or interfere with the patients
functioning.
They are acknowledged as coming from the patients own mind
The obsessions are unpleasantly repetitive
At least one thought or act is resisted unsuccessfully (chronically
the patient may no longer resist)
A compulsive act is not in itself pleasurable (excluding relief of
anxiety)

Obsessions and compulsions can be features of several other psychiatric
disorders so these should be ruled out before giving a diagnosis of OCD.
These included:
Depression
Other anxiety disorders
Eating disorders
Schizophrenia
Habit and impulse control disorders
Anankastic personality disorder
Hypochondria

Depression should always be considered with obsessions or compulsions
as over 20% of depression patient have these symptoms and which
resolve with treatment. Over 2/3 of patients experience a depressive
episode in their lifetime.

Management and Treatment

Medication

SSRIs are considered first line treatments for most anxiety disorders due
to their proven efficacy and tolerable side effect profile. Venlafaxine also
has proven efficacy in generalised anxiety disorder. TCAs are considered
second line due to their less tolerable side effect profile. Clomipramine
(TCA) has proven efficacy in OCD.
Restlessness and an initial increase in anxiety may occur in the first few
days of using an SSRI or TCA which can hamper compliance. The
anxiolytic effects of benzodiazepines may be useful in the first few weeks
Page | 50

of treatment as their effects are immediate. However these should only
be used acutely due to the risk of addiction.
MAOIs are effective but are not considered first line due to their side
effects and interactions with other drugs and food.

Psychological

CBT is proven in most anxiety disorders and often has a synergistic effect
with medication. It is first line for specific phobias which may involve
systematic desensitisation, flooding or modelling. CBT may also be useful
in panic disorder to help break the cycle that is demonstrated in the
diagram above. Other options include supportive, psychodynamic and
family therapies. Counselling may be useful in those experiencing
stressful life events.

Anxiety disorder Pharmacotherapy Psychotherapy
Generalised 1
st
line: SSRI/SNRI
2
nd
line: TCA
Treatment resistant: benzodiazepines
CBT
Psychodynamic
Relaxation
Panic/agoraphobia 1
st
line: SSRI
2
nd
line: TCA
Treatment resistant: MAOIs,
benzodiazepines, SNRI
CBT
Social 1
st
line: SSRI
2
nd
line: MAOI
Treatment resistant: benzodiazepines, SNRI,
MAOIs
CBT
Specific Not standard treatment CBT
OCD 1
st
line: SSRI
2
nd
line: Clomipramine (TCA)
Treatment resistant: antipsychotics
CBT
Family therapy
PTSD 1
st
line: SSRI
2
nd
line: TCA
Treatment resistant: MAOI
Desensitisation
CBT
Psychodynamic

anxiety disorders

social consequences of harmful use of dependence on alcohol and other
drugs

antidepressants and benzodiazepines

Page | 51

The following section will focus on anxiolytics and hypnotics as
antidepressants have already been covered.

Hypnotic drugs induce sleep whereas anxiolytic drugs help reduce
anxiety. However this differentiation is not particularly useful as hypnotic
drugs at low doses help reduce anxiety and anxiolytic drugs at high doses
help induce sleep. Most of these drugs can result in tolerance, dependent
and withdrawal symptoms so care is needed. Alcohol use in combination
with these medications will have an additive affect. The most important
medication in this group is the benzodiazepine class.

Benzodiazepines are classified by their length are action, strength and
route of administration:

Drug Dose equivalent
to 5mg diazepam
Length of action Half-life Route of
administration
Temazepam 10mg Short 11h Oral
Oxazepam 15mg Short 8h Oral
Lorazepam 0.5mg Short 15h Oral, IV, IM
Chlordiazepoxide 15mg Long 100h Oral
Diazepam 5mg Long 100h Oral, PR, IV

Mechanism of action

Benzodiazepines potentiate the action of GABA, the main inhibitory
neurotransmitter in the brain. They bind to specific receptors on GABA
A

which results in an increased affinity of the complex for GABA. This
results in an increase of chloride ions flowing into the neuron, thereby
hyperpolarising the post-synaptic membrane. This makes them effective
hypnotics, anxiolytics, anticonvulsants and muscle relaxants.

Indications

The indications include insomnia, anxiety, alcohol withdrawal (especially
Chlordiazepoxide), akathisia (inner restlessness), acute mania/psychosis
(sedation), epilepsy, seizures etc.

Side Effects

Avoid driving or operating machinery due to drowsiness, ataxia and
reduced coordination
They depress respiration so use with caution in COPD
Risk of dependence, especially with prolonged use and shorter
acting formulations

Other options

Page | 52

Short acting hypnotics: zopiclone, zolpidem and zaleplon also act on
the benzodiazepine receptor, have a short half life and do not cause
a hangover
Buspirone: a 5-HT
1A
receptor agonist that is useful in treating
generalised anxiety disorder. Response may take up to two weeks
Sedating antihistamines: diphenhydramine (nytol) is available OTC
for insomnia but their long duration can cause drowsiness the next
day
Clomethiazole, meprobamate and chloral hydrate are no longer first
line sedatives/hypnotics due to their adverse effects



Child and Adolescent Psychiatry

1. An awareness of the assessment and treatment strategies for common
psychiatric disorders in children and adolescence, including how these
strategies may vary from those employed in working age populations

I will include learning disabilities and adolescent psychiatry in this section
as the objectives are basically the same.

Assessment

This assessment section is generalised to most conditions that affect
children and adolescents. The following should be considered when
assessing someone from this age group:
It is often useful to first interview the parents with/without the child
present to obtain a list of current concerns as well as a complete
psychiatric, neurodevelopmental, educational and medical history.
This also allows for an indirect evaluation of the parents
personalities, marital relationship and style of parenting which often
gives a different perspective to understanding the context of the
presenting complaint.
An interview with the child will usually follow although the
information gathered here will usually depend on the age of the
child. Although younger children may not be able to articulate
themselves, it is often useful to observe them in a play situation.
Obtaining collateral information is extremely important to
understanding the development of the presenting complaint as well
as the childs premorbid functioning. This will include academic,
Page | 53

educational or psychological reports as well as discussions with
teachers and other agencies involved.
Finally further information can be gathered by structure and semi-
structured interviews as well as parent/teacher rating scales.

Classification

Disorders of children and adolescence are divided into four broad
categories which are:
1) Mental retardation (learning disability)
2) Developmental disorders (specific and pervasive)
3) Acquired disorders with onset usually in childhood or adolescence
4) Acquired adult disorders with onset in childhood or adolescence

Learning Disability

This condition describes the failure to develop a normal level of cognition
rather than the loss of it, such as in dementia. Cognition is measured by
IQ (intelligence quotient) and a value <70 (2 standard deviations below
the mean) is said to be sub average. The problem with this scale is that it
does not take into account factors such as sociocultural background,
native language as well as sensory, motor or communication handicaps
which may lead to a falsely low score. Therefore a learning disability
should not be diagnosed if there is no evidence of significant impairment
in adaptive functioning (communication, self care, social skills, academia
etc).

Classification and clinical features

ICD-10 specifies learning disabilities as mild, moderate, severe and
profound according to intellect and adaptive impairment. There may also
be clinical features of the causative process, e.g. cardiac septal defects in
Downs syndrome. Often other features include aggression, self-injurious
behaviour, repetitive stereotypical motor movements and poor impulse
control.
Mild (85%) IQ 50-69, usually capable of unskilled or semi-skilled
manual labour and may be able to live independently
Moderate (10%) IQ 35-49, language, self care and
comprehension are limited and usually needs supervision. May be
able to do some practical work with supervision
Severe (3-4%) IQ 20-34, needs substantial care, limited motor
skills and speech. Capable of only very basic self care
Profound (1-2%) IQ<20, severely limited in ability to understand
or comply with requests or instructions. Little or no self care and
often need residential homes.

Page | 54

The prevalence of mental retardation in the general population is about 1-
2% with a male to female ration of 1.5:1. 85% of these cases are
classified as mild.
In 30-40% of cases no clear aetiology can be determined and these
patients may simply represent the lower end of the normal distribution
curve for intellectual functioning. However, in patients with severe or
profound learning disabilities it is likely that there is a specific cause.
There are a huge number of causes of mental retardation, too many to
list. However some of the major categories and culprits are as follows:
Genetic downs, fragile x, prader-willi
Prenatal CMV, rubella, toxoplasmosis, syphilis, VZV, HSV, AIDS,
substance abuse, pre-eclampsia
Perinatal Birth trauma, hypoxia, kernicterus
Environmental poor, socioculturally deprived, neglect,
malnutrition, abuse
Psychiatric pervasive developmental disorders
Medical conditions meningitis, encephalitis, head injury, toxins

Management and prognosis

Since learning disabilities cannot be cured in most cases, it is important to
focus on prevention. Such steps include improved perinatal and child
healthcare, early detection of metabolic abnormalities, genetic counselling
and the option of therapeutic abortion.
Although there is no cure, adaptive functioning can be improved with
comprehensive educational and vocational programmes, family education
and support, behavioural therapy, medication in some cases (for
aggression, destructive behaviour antipsychotics, benzodiazepines,
lithium and carbamazepine), appropriate residential placement and
treatment of co-morbid psychiatric and medical conditions.

Developmental Disorders

There are two main types: specific and pervasive developmental
disorders.

Specific developmental disorders refer to a disturbed acquisition of a
specific cognitive or motor function during development e.g. language,
reading, spelling, arithmetic etc. Other areas of cognitive functioning are
average or even above average. These disorders are not simple the
consequence of a lack of opportunity to learn, sensory impairment or
neurological disease but are thought to arise from specific biological
abnormalities in cognitive processing. Compared with mental retardation
these patients have less difficulty with overall social and personal
functioning although teasing and school problems may cause some
emotional or behavioural problems.
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Pervasive developmental disorders are characterised by a severe
impairment in social interactions and communication skills, and restricted,
stereotyped interests and behaviours. These behaviours usually affect all
areas of a patients functioning and are evident within the first few years
of life. They are often associated with mental retardation but this is not
necessary for a diagnosis. The emphasis is on deviant behaviour
irrespective of intellectual functioning. These disorders include autism,
asperges and retts syndrome as well as childhood disintegrative disorder.

Autism

Characteristic features that manifest within the first 3 years of life
include:
1) Impairment of social interaction poor eye contact, facial expressions,
failure to share and enjoy peer relationships
2) Impairment in communication poor spoken language, extreme
difficulty initiating and sustaining conversation, lack of imaginative play
3) Restricted, stereotyped interests and behaviours intense
preoccupation with interests such as dates, phone numbers, timetables
etc, inflexible adherence to routines and rituals, repetitive motor
movements such as clapping and an unusual interest in parts of hard or
moving objects.

Patients may also exhibit behavioural problems such as aggression,
impulsivity and self injurious behaviour. Although autistic children can be
of normal intelligence, 75% have significant mental retardation. Epilepsy
may develop in about 25-30% of cases.


Prevalence of autism is about 0.05% in the general population with a
male to female ratio of 3-5:1 but females are more seriously affected. The
exact cause has not been clarified but it is clear that genetic, prenatal,
perinatal and immunological factors are all implicated. Phenylketonuria,
tuberous sclerosis and congenital rubella are associated conditions. There
is no good evidence that the MMR vaccine results in autism.


Prognosis is generally poor with only 1-2% achieving full independence
and 20-30% of patients achieving partial independence. The best
prognostic factors are an IQ above 70 and good language development by
the age of 5-7. Prognosis is also improved if the home environment is
supportive with good family education and support. The treatment
approach is similar to mental retardation.

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Aspergers Syndrome

This is similar to autism in that there is an impairment of social
interaction coupled with restricted, stereotyped interests and behaviours.
However the difference is that there is no abnormalities in language
acquisition and ability or in cognition development and intelligence. This
syndrome is more common in boys and schizoid and Anankastic
personality traits are common. This disorder is on the autistic spectrum.

Retts syndrome

Almost only ever seen in girls and is characterised by normal
development at birth up to around 5 months. This is followed by a
progressive and destructive encephalopathy from 6 months to 2 years of
age. This leads to a loss or lack of language development and loss of fine
motor skills. After a decade most girls are wheelchair bound, have
incontinence and profound muscle wasting plus rigidity. They have almost
no language ability.

Child disintegrative disorder (Hellers syndrome)

This disorder is more common in boys and is characterised by around two
years of normal development followed by a loss of previously acquired
skills (language, social, adaptive, bowel and bladder control, and motor
skills) before the age of 10. It is also associated with autism like
impairment of social interaction and repetitive stereotyped interests and
mannerisms.

Acquired Disorders

These are disorders that are effective superimposed on a relatively
normal developing child, hence if the illness was removed than a
relatively normally developed child would remain. They tend to follow a
fluctuating course and are often treatable. These disorders can be further
divided into those specifically developing in childhood and those that are
adult psychiatric disorders that have a childhood onset.

Acquired disorders with onset usually in childhood or adolescence

ADHD or hyperkinetic disorder

Diagnosis and clinical features: usually has its onset before the age of 6-7
and is characterised by impaired attention or hyperactivity or impulsivity.
Impaired attention includes difficulty sustaining attention in work or
play, not listening when being spoken to and being highly
distractible.
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Hyperactivity includes restlessness, fidgeting, running and jumping
around in inappropriate situations, excess noisiness and difficulty
engaging in quiet activities. They also often interrupt others, cannot
wait their turn and may prematurely blurt out answers to questions.

It is important that these symptoms are evident in more than one
situation i.e. at school and at home, and should be present for at least 6
months. It is also important to distinguish ADHD from age appropriate
behaviour in young active children. Other aspects should be considered to
explain the behaviour such as is the child in a class above or below their
level of intellect and are there concurrent mental illnesses such as
depression.


The prevalence in the USA is 3-7% in school aged children compared to
only 1% in the UK, perhaps due to narrower diagnostic criteria. The male
to female ration is 3-9:1 and causes are not yet known, although genetic,
dietary and psychosocial factors as well as brain damage have all been
implicated.


Pharmacological: CNS stimulants such as methylphenidate (Ritalin)
and dexamphetamine have been shown to be highly effective in
of children, producing increased concentration and academic
efficiency. Antidepressants and some antipsychotics are second line.
Psychotherapy: behavioural modification and family education are
important. Permissive parents are not helpful in this situation.
Improvements usually occur with development and remission of
symptoms usually occurs between the ages of 12 and 20, although 15%
of patients have symptoms persisting into adulthood.
Unstable family dynamics and coexisting conduct disorder are associated
with a worse prognosis.

Conduct disorder

This occurs usually before the age of 18. It mostly affects boys by the age
of 10-12 and girls by 14-16. This disorder is characterised by the
repetitive and persistent pattern of aggression to people and animals,
destruction of property, deceitfulness or theft and major violations of age
appropriate societal expectation or rules e.g. truancy.
Aetiological factors include genetics, parental psychopathology, abuse,
neglect, education and socioeconomic status. It affects 5-15% of
adolescent boys and 2-10% of girls with a female to male ratio of 3-12:1.
Many improve whilst some go on to develop an antisocial personality
disorder and substance related problems.
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Management strategies include behavioural, cognitive, family and group
therapies. Opposition defiant disorder describes a pattern of defiant and
hostile behaviour that does not violate the law or basic rights of others.

Emotional disorders

These disorders revolve around anxiety and depression and seldom
persist into adult life and tend to have a good prognosis. The treatment of
these disorders is focused on behavioural and family therapy.
Such disorders include:
Separation anxiety normal in 6 months to 2 years
Phobic anxiety
Social anxiety normal between 8 months and 1 year
Sibling rivalry normal immediately after birth
These disorders are diagnosed when the response seems exaggerated.

Others

There are many other disorders including elective mutism, tic disorder,
non-organic enuresis and non-organic encopresis which will not be
covered here.

Adult disorders with onset in childhood

This is the final classification of disorders and includes all psychiatric
disorders previously discussed. The diagnostic criteria are essentially the
same as they are for adults.

Child abuse

This is vital to look out for and may take the form of sexual, physical and
emotional abuse, neglect or deprivation. These children may present with
failure to thrive, depression, anxiety, aggression, precocious sexual
behaviour, PTSD and suicidal behaviour. They are also at an increased
risk of developing most of the psychiatric disorders covered. A low
threshold for referral to social services should be had if suspicions are
raised.
Risk factors include:
Parental/environmental factors Child factors
Parents who were abused
Parental substance abuse
Parental mental illness
Step-parent
Young, immature parents
Parental criminality
Poor socioeconomic status
Overcrowding
Low birth weight
Early maternal separation
Unwanted child
Mental retardation or disability
Challenging behaviour
Hyperactivity
Excessive crying
Page | 59


Learning Disabilities

1. Knowledge of the definition, aetiology and assessment strategies for
people with learning disabilities


Adolescent Psychiatry

1. An awareness of the assessment and treatment strategies for common
psychiatric disorders in children and adolescence, including how these
strategies may vary from those employed in working age populations


Exam Preparation

1. Overview of the knowledge and skills required to practice psychiatry as
an F1 doctor

Substance Misuse

services in the UK

the ICD-10 diagnostic criteria, of common psychiatric disorders

3. Knowledge of the physical conditions that present with psychiatric
symptoms, including appropriate investigations for these conditions

other drugs

Page | 60


6. Reflect on the impact of a patients, carers or colleagues actions on
ones own emotional and behavioural response

Mental Health Act

1. An awareness of the ethical and legal principles in clinical practice,
including the mental health act

The England and Wales mental health act of 1983 provides a legal
framework for the detention and care of mentally disordered patients in
hospital. It is primarily composed of four parts:
1) The application and extent of the act plus a definition of mental
disorder
2) Compulsory admission to hospital and guardianship
3) Patients concerned with criminal proceedings
4) Consent to treatment
Note dependence on drugs and alcohol, promiscuity, sexual deviancy or
immoral conduct alone is not evidence of a mental disorder

Part 1

Here are the four types of mental disorder under which individuals may be
detained:
Mental illness: not defined by the MHA but left as a matter of clinical
judgement. It should be of a degree as to warrant detention in the
interests of health, safety or protection of others
Mental impairment: a state of arrested or incomplete development
of the mind which includes significant impairment of intelligence and
social functioning and is associated with abnormally aggressive or
seriously irresponsible conduct
Severe mental impairment: as for above but with severe
impairment of social functioning and intelligence
Psychopathic disorder: a persistent disorder or disability of mind
(may or may not include a significant impairment of intelligence)
which results in abnormally aggressive or seriously irresponsible
conduct

Part 2

This second relates to compulsory admission to hospital. The usual
sequence of events for section 2 or 3 is as follows:
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An approved social worker (ASW) or nearest relative will make an
application for assessment after having seen the patient within the
last 14 days
The application must then be supported following an assessment
and recommendation of two doctors, one of whom should be section
12 approved. It is also recommended that one doctor has had
previous acquaintance with the patient (usually GP)
Patients are informed of the section and their rights, and may apply
to have their case reviewed by mental health review tribunal or
hospital managers
Patients can be discharged from their section by the: responsible
medical officer, hospital manager, mental health tribunal or nearest
relative (the last one may be blocked by psychiatrist and 72 hours
notice is needed).
Patients can be granted section 17 leave from the hospital for a
specific amount of time with certain attached conditions.

Informal admission is applied to patients who are not detained on section
but have agreed to voluntary admission (usually about 90% of patients).

The following is a summary of the important sections that need learning:

Section 2: 28 days compulsory detention for assessment and may be
converted to a section 3. Application is by an approved social worker or
nearest relative and but be approved by two doctors, one who is section
12 approved.

Section 3: 6 months compulsory detention for treatment, usually when
the diagnosis and treatment response is established. This can be
extended later. An ASW or nearest relative must apply and two doctors
should approve it (one with section 12 approval)

Section 4: 72 hours emergency admission to hospital for assessment
when there is not time to wait for a section 2. Applicants are an ASW or
nearest relative and only one doctor is needed to approve it.

Section 5(2): 72 hours detention of a hospital in-patient who is
receiving any form of treatment in order to give time to convert to a
section 2/3. The doctor responsible for their care usually does this.

Section 5(4): 6 hours urgent detention of an in-patient receiving
treatment for a mental disorder when a doctor is unable to attend. A
registered nurse trained in mental health may do this.

Part 3

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This related to mentally ill patients involved in criminal proceedings or
under sentence. The sections relating to this are 35, 36, 37 and 41.

Part 4

This section covers consent to treatment and the details of what can be
imposed on a patient. Patients on long term treatment orders (section 3)
may be treated with psychiatric medication for 3 months with or without
their consent. However, after 3 months and in other special cases, an
extra section is required to continue treatment.
These circumstances include section 57 and 58 that require the patients
consent and a second opinion (use of ECT, psychosurgery, surgical
implants and a further 3 months of treatment).

Note that in circumstances where urgent treatment is required to save a
patients life then the second opinion can be waived. This, for example,
may be done when emergency ECT is use on a patient who is not eating
or drinking.

Other useful sections to remember include:
Section 135 an ASW can apply to a magistrate for a warrant to
allow police to enter and remove someone with a mental disorder
from their home and transfer them to a place of safety.
Section 136 police who find a person in a public place appearing
to suffer from a mental disorder may remove him/her to a place of
safety.
These persons may not be detained for greater than 72 hours until they
have been assessed for section 2/3.

Common law

Common law is law that is based on court decisions (case law) or
customs, rather than laws made in parliament (this is statute law). The
mental health act is an example of statute law whereas instituting life-
saving treatment on an unconscious patient, who is unable to consent, is
justified under common law.

Mental Capacity Act 2005

including the mental capacity act

Consent and Capacity

Adults have the right to refuse treatment, even if this refusal results in
death or serious disability. When patients refuse essential treatment,
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clinicians should ascertain whether they have the capacity to consent to
treatment and have made a free decision without coercion.

Capacity is based on whether a person is able to:
1) Understand the information relevant to the decision
2) Retain the information
3) Use or weight the information as part of the process of making a
decision
4) To communicate their decision (any means)

If any one of these is lacking then it can be said that a patient is lacking
capacity. However it should be noted that a patient only has to retain the
information long enough to make a decision and can forget it after the
decision has been made.

Best Interests

If a patient is judged to lack capacity then they should be treated using
the principles of best interests. This section of the mental capacity act
states what she be taken into consideration when a decision on
someones behalf is made. This includes:
The persons past and present wishes and feelings (also any relevant
written statements from when they had capacity)
Their beliefs and values that would influence the situation if they
had capacity
The wishes of any family and friends or those appointed with power
of attorney.
Whether the patient will regain capacity in the future

Deprivation of liberty safeguards

Within the mental capacity act is a section regarding the deprivation of
liberty. This covers when a patient may or may not have their liberties
removed to protect themselves or others. This principle can be applied to
adults who are lacking capacity and the deprivation of their liberties is in
their best interests.

Testamentary capacity

This is the individuals competence to make a valid will. It should be
determined whether the testator is of sound disposing mind when drawing
up and executing a will. The four criteria that must be fulfilled here are:
1) The testator understands that he is giving his property, after his death
2) He understands the nature of, and is able to recollect the extent of, his
property
3) He is aware of who might have a reasonable claim to his estate

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4) He is able to weight up each relatives claims and make rational
judgements about allocation.

Therefore a patient with dementia or psychosis may still have
testamentary capacity provided that they meet the above criteria.

Fitness to drive

Both mental illness and psychiatric medication can impair fitness to drive.
Therefore the following are important:
It is the responsibility of the driver and DVLA to make the decision
as to whether an individual is fit to keep driving.
It is the drivers responsibility to inform the DVLA of any condition
that may impair their ability
It is the doctors responsibility to advise patients to inform the DVLA
of any condition that may interfere with their driving.
Doctors may have to breach confidentiality to contact the DVLA
medical advisor themselves if the patient fails to do so. The same
applies to patients who are unlikely/unable to contact the DVLA due
to their illness (e.g. dementia or psychosis).

Forensic Psychiatry

including the mental health act

2. An awareness of the interaction between crime, the criminal justice
system, psychiatric disorders and psychiatric services

Organic Psychiatry

1. Knowledge of the physical conditions that present with psychiatric
symptoms including appropriate investigations for these conditions (Im
taking this to mean dementia, delirium and other memory conditions)

A Brief note on memory

It is vital to know how memory is classified to be able to understand the
various psychiatric conditions. It should also be noted that different
doctors may use certain terminology in different ways so this should
always be clarified.

Immediate memory (or sensory memory) This memory is held for less
than a second, is unprocessed and is in the form in which it was perceived
by the sensory organ. This allows the brain time to process the vast
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amount of visual (iconic), auditory (echoic) and touch (haptic) input that
it receives each second.

Short-term memory (primary/working memory) Once immediate
memory is received it may be transferred to a temporary memory store
which has a limited capacity of around 7+/-2 items at a time. This will be
forgotten in 15-30 seconds unless it is rehearsed or converted to long
term memory. A digit span test can be used clinically to test this.

Long-term memory (secondary memory) This store is thought to
probably be limitless in terms of capacity and features a duration of
storage from minutes to decades.

Other forms of memory
Recent
Remote stored many years ago
Explicit/declarative stored material the person is consciously
aware of
Implicit/procedural stored without individuals conscious
awareness e.g. ability to speak

Amnesia This is the loss of the ability to store new memories or recall
old memories. Anterograde amnesia refers to a condition where patients
cannot store new memories from the causing event and onwards. The
ability to retrieve memories before the event remains intact. Retrograde
amnesia refers to a condition where patients cannot recall memories
before the causing event. Storage of new memories is not impaired in
these patients.

Dementia

Epidemiology
The prevalence in the total UK population is around 0.3% but rises
sharply with age. The prevalence over the age of 65 is around 5% and
20% over the age of 80. Senile or late onset dementia is used for patients
over 65 and presenile or early dementia is used for patients at or under
65.
Relative prevalences as follows:
Alzheimers Disease 30-60%
Vascular Dementia 10-30%
Combined alzheimers and vascular dementia 10-30%
Dementia with lewy bodies (DLB) 15%
Frontotemperal dementia (including picks disease) the most
common form of degenerative dementia, after Alzheimers, that
affects middle age, and account for up to 20% of presenile cases.

Aetiology
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Alzheimers disease: can be divided into early and late onset as well as
familial (family affected) and sporadic (family not affected) types. Late
onset is the most common and accounts for around 90%. However it is
important to note that familial does not mean genetic. It could be that
multiple family members have been exposed to something or similar
environmental conditions. The opposite applies for sporadic, i.e. genetics
can play a significant role in development. At present the cause of most
cases is not known but it is thought to be a combination of multifactorial
genetic risk facts and uncertain environmental factors. Increased
production and deposition of B-amyloid appears to be the central
pathological process.

Important factors

Genetics: It is not clear how much genetics contributed to late onset AD
but it is clear that they are the largest single risk factor. Family studies
have shown a threefold increase in risk in first degree relatives of
sufferers. The most important gene is that one that codes for
apolipoprotein E (ApoE) which occurs at three different alleles (so
inheriting more, further increases risk). The gene tends to lead to AD that
develops at an earlier age (still over 65). With early onset AD the main
rare genes are amyloid precursor protein, presenilin-1 and presenilin-2.
These account for 30-50% of cases and are autosomal dominant, usually
presenting between 30 and 60 years of age. As amyloid precursor protein
is on chromosome 21, Downs syndrome adults invariably develop
neuropathological changes similar to AD.

Neurotransmitter abnormalities: Symptoms are thought to be due to a
reducing in brain acetylcholine activity, secondary to degeneration of
cholinergic neurons. Powerful inhibitors of acetylcholinesterase can help
improve symptoms in mild to moderate AD.

Environment: There is no consistent evidence here although aluminium is
related to AD in dialysis patients. Poor education appears to be a risk but
this may be confounded by socioeconomic factors and nutrition. HRT also
appears to be a protective factor.

Neuropathology: Characterised by generalised atrophy of the brain with
widened sulci and enlarged ventricles. Microscopically there may be
intracellular neurofibrillary tangles and extracellular senile plaques
(consisting of B-amyloid cores).

Types of dementia

Vascular: thought to be due to multiple cortical infarcts or many small
infarctions in the white matter due to widespread cerebrovascular
disease. Occasionally vascular dementia can arise from a single infarct. It
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is associated with increasing age and the risk factors are the same as for
CVD (male, smoking, stroke, hypertension, diabetes, MI, carotid stenosis,
valvular disease, hypercholesterolaemia or hypercoagulation disorders).

Dementia with Lewy Bodies (DLB): Little is known about the cause but an
allelic variation on the apolipoprotein E gene may be linked. Lewy bodies
are abnormal proteins aggregated with ubiquitin and alpha-synuclein.
These are the same as found in Parkinsons but in a different location.

Frontotemporal Dementia: The cause here is also unknown but it is
associated with a bilateral atrophy of the frontal and anterior temporal
lobes.

Symptoms and Signs

Dementia is an acquired syndrome characterised by a global impairment
of cognitive function and personality without an impairment of
consciousness. Most cases are chronic and irreversible with a progressive
deterioration in social and occupational functioning. Symptoms should be
present for 6 months before a diagnosis can be confirmed. The following
are general categories of impairment.
Memory impairment This is a common feature with most recent
memories being affected first. As the disease progresses all aspect
of memory are affected, although highly personal information is
retained until very late in the disease. Memory is also essential for
orientation to person, time and place.
Loss of language ability (aphasia) Both receptive and expressive
dysphasias may occur and manifest as difficulty understanding
commands or by vague circumstantial speech. Eventually patients
may exhibit echolalia (repeating what is heard) or palilalia
(repeating their own words), or even becoming mute.
Apraxia lose of ability to carry out skilled motor movements
despite intact motor and sensory function.
Agnosia lose of ability to recognise or identify previously familiar
objects or people despite intact sensory function
Impaired executive functioning Difficulty in planning and
sequencing complex activities.
Personality and behavioural changes May become introverted and
socially withdrawn (family usually notice this first), or hostile,
irritable and socially disinhibited.
Psychiatric symptoms Hallucinations in all sensory modalities
(particularly visual) can occur in 30% of patients. Delusions,
especially persecutory, may occur in up to 40% of patients.
Depression and anxiety may occur in up to 50% of patients and
finally dementia patients are particularly at risk of delirium.
Neurological symptoms 10-20% of patients will experience
seizures in addition to agnosia, apraxia, and aphasia.
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Distinguishing clinical features of the common types

Alzheimers disease: Gradual onset with progressive cognitive decline -
Diagnosis of exclusion.

Vascular Dementia: Focal neurological signs and symptoms, evidence of
cerebrovascular disease/stroke and uneven/stepwise deterioration in
cognitive function

Dementia with Lewy Bodies (DLB): Day to day fluctuations in cognitive
performance, recurrent visual hallucinations, spontaneous motor signs of
parkinsonism, recurrent falls/syncope, transient disturbance of
consciousness and extremely sensitive to antipsychotics.

Frontotemporal Dementia: Early decline in social and personal conduct,
early emotional blunting, attenuated speech output, early loss of insight
but relatively sparing of other cognitive functions.

Potential Causes

There is a huge list of potential causes but the major classes are:
Neurodegenerative AD, DLB, Parkinsons etc
Vascular dementia
Space occupying lesion
Trauma
Infection CJD, HIV, neurosyphilis etc
Metabolic and endocrine thyroid (high/low), parathyroid
(high/low), liver failure etc
Nutritional thiamine, vitamin B12, folic acid or niacin deficiency
Drugs and toxins alcohol, benzodiazepines, barbiturates, solvents
Anoxia
Inflammatory disorders MS, SLE etc
Normal pressure hydrocephalus

Management

There is no cure for any of the neurodegenerative forms of dementia.
Although the prognosis is invariably poor, considerable improvements in
the patients quality of life are possible through various psychosocial and
pharmaceutical approaches.
The major management principles are:
1) Treat the underlying cause
2) Treated associated disorders or complications
3) Address functional problems
4) Provide advice and support for carers
5) Symptomatic treatment with cholinesterase inhibitors when indicated
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Management strategies:
Treat the patient in primary care or an outpatient setting until the
final stages of dementia (if possible)
Treat disturbed behaviour with antipsychotics or benzodiazepines.
Psychotic and depressive symptoms may be treated with
antipsychotics and antidepressants. Low doses are essential to
avoid Parkinson like effects in the elderly. These can also worsen
cognitive function. Do not use antipsychotics with lewy body
dementia unless necessary
Cholinesterase inhibitors are licences for patients with an MMSE
above 12. Up to 50% of these patients will show a slower rate of
cognitive decline and even possible improvement.
Memantine is a new drug that has been shown to be effective
(NDMA receptor antagonist) in moderate to severe disease.
Assess ADL scores to help patients retain skills and resources


The course is invariably progressive and fatal. Successful treatment of
medical causes (i.e. hypothyroidism) usually arrests progression rather
than resolving cognitive decline. The duration of survival from time of
diagnosis varies depending on which form of dementia it is:
AD 7 to 9 years
Vascular dementia Usually less than AD
DLB 1 to 2 years
Frontotemporal 8 to 11 years
Huntingtons - 12 to 16 years
CJD 6 to 8 months (new variant is 18 months)

Delirium

Epidemiology
The elderly, infants and young children are particularly at risk of delirium.
The prevalence in hospitalised, medically ill patients ranges from 10 to
30%. Between 10-15% of patients over 65 are delirious on admission and
10-40% develop a delirium during hospitalisation. Dementia patients are
particularly at risk with up to 2/3 of cases of delirium occurring in
dementia patients.

Aetiology
An underlying drug or medical cause is usually identified. The exact
pathophysiological mechanisms for delirium remain unclear but postulated
mechanisms include an interruption in the blood brain barrier or an
alteration in cholinergic and noradrenergic neurotransmitter systems.
Causes may include:
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Intracranial neurodegenerative, space occupying, head injury,
infection, epilepsy, cerebrovascular disorders
Systemic causes Toxic, drugs, poisons, metabolic/endocrine,
nutritional, infections, sepsis and anoxia

Clinical Features
The essential feature is an impairment of consciousness with a reduced
ability to focus or maintain attention. This state tends to develop over a
short period of time and is transient. The following symptoms are the
most prominent:
Impaired consciousness reduced awareness from clouding of
consciousness to coma. Their ability to sustain attention is reduced
and they are easily distractible.
Impaired cognitive function Short term memory and recent
memory are impaired but with relative preservation of remote
memory. Delirious patients are almost always disorientated to time
and often to place but orientation to self is rarely lost. Language
abnormalities such as rambling, incoherent speech and an impaired
ability to understand are common.
Perceptual and thought disturbance perceptual disturbances
ranging from misinterpretations to illusions and hallucinations
(especially visual). Transient persecutory delusions and delusions of
misidentification can occur.
Psychomotor abnormalities patients may be hyper or hypoactive
or fluctuate from one to another. They may also have an enhanced
startle reaction.
Sleep-wake cycle disturbance sleep is characteristically disturbed
and can range from daytime drowsiness and night-time
hyperactivity to a complete reversal of the normal cycle.
Nightmares of delirious patients may continue as hallucinations
after awakening.
Mood disturbances Depression, euphoria, anxiety, anger, fear and
apathy are all common.

Distinguishing Between Delirium and Dementia
Both syndromes have symptoms of memory and cognitive impairment.
However they differ dramatically in cause, management and prognosis.
Therefore it is imperative that the difference between them is
distinguished. The following table summarises some of the main features
of each:
Feature Delirium Dementia
Onset Acute Gradual
Duration Hours to weeks Months to years
Course Fluctuating Progressive
deterioration
Consciousness Impaired Normal
Perceptual disturbance Common Occurs in late stages
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Sleep-wake cycle Disrupted Usually normal

Management
Hospitalisation is essential in delirious patients so vigorous investigation
and treatment of any underlying condition may be done. Using the same
members of staff can help reduce confusion/foster trust and this
reassuring presence can often calm distress patients. Visual acuity and
hearing ability should be maximised to avoid misinterpretation of stimuli
and the use of clocks, calendars and familiar objects may be helpful with
orientation. The presence of close family and friends may also help
comfort and orientate them.
Antipsychotics (especially low dose haloperidol) are effective at treating
delirious symptoms, in part due to their sedating qualities and secondly
due to their effects on the dopamine-acetylcholine balance. Sedatives
should be avoided if possible (I know this contradicts the last sentence
but its what the book says! Plus I assume they mean drugs that are
principle sedatives rather than it being a side effect), especially drugs
with powerful anticholinergic properties. Benzodiazepines should be used
with caution as they are less effective than antipsychotics (except in
alcohol/substance induced delirium where they are highly effective).

The average duration is 7 days. In-patients with a delirium have an
increased mortality with elderly patients having up to a 75% chance of
dying during the admission. This in unsurprising due to the serious nature
of the underlying medical conditions.



Perinatal Psychiatry

services in the UK

2. Knowledge of the epidemiology, aetiology and prognosis of common
psychiatric disorders

Psychiatric considerations in pregnancy

Pregnancy is generally a time of mental well-being and the development
of mental disorders is unusual. Even patients with a pre-existing
Page | 72

psychiatric history have no increase in episodes in pregnancy. However
these facts are not true for the puerperium period (after birth).
There is evidence of an increased incidence of adverse life events in the
weeks and months prior to spontaneous abortion (miscarriage) and at a
month following miscarriage up to 50% of women have a diagnosable
depressive disorder (four times normal) with typical features of
bereavement. However there appears to be no significant increase in the
rates of mental illness following a termination of pregnancy, perhaps since
society is much more accepting now.
When medication is indicated a judgement is needed to regard the risk of
relapse against risk of teratogenic/adverse effects. In pregnancy lithium
and benzodiazepines are probably teratogenic whilst TCAs appear to be
safer. SSRIs have not been shown to have adverse effects and neither do
antipsychotics, although extra-pyramidal side effects may occur in
neonates.

Puerperal Disorders

This is a relatively high risk period for the relapse of pre-existing mental
illness as well as the development of a new mental illness. There are
three main conditions that should be considered when evaluating a
womans psychological symptoms:
Postnatal blues
Postnatal depression
Puerperal psychosis

Postnatal Blues

This is very common condition that occurs in 50% (1 in 2!) postpartum
women. It occurs within the first 10 days post delivery and is
characterised by episodes of weepiness associated with mild depression or
emotional lability, anxiety and irritability that peak between the 3
rd
and
5
th
day. The lack of a link between postnatal blues and life events,
demographic factors or obstetric events suggests an underlying biological
cause (e.g. a fall in progesterone post-delivery). This is a self limiting
condition that usually only requires reassurance. However an apparently
bad case may actually be the onset of postnatal depression.

Postnatal depression

Aetiology: psychosocial factors are strongly linked to PND with recent
stressful life events, lack of a close confiding relationship, a young
maternal age and marital status all implicated. A previous history of
depression, particularly PND or postnatal blues is particularly important.
An obstetric complication during delivery is also a risk factors to those
with a history of depression. Biological factors are less important than in
the other two main conditions.
Page | 73

Epidemiology: The prevalence is around 10% (roughly 1 in 8 women).
This is similar to depression in the general population of women. No
socioeconomic class or parity factors are implicated.

Clinical features: Usually develops within 3 months after delivery and
typically lasts between 2 and 6 months. The symptoms are similar to
normal depressive episodes and include low mood, loss of interest,
fatigability and suicidal ideation. However it should be noted that sleeping
difficulties, weight loss and decreased libido can be normal in the first few
months after delivery. Additional features may include:
Anxious preoccupation with the babies health
Reduced affection for the baby with impaired bonding
Obsessional phenomena which may involves recurrent intrusive
thoughts of harming the baby (ascertain if these are ego-dystonic
or not repulsive thoughts)
Infanticide thoughts that are not experienced as repugnant (ego-
syntonic) and may be seriously entertained. Worryingly they can
also involve a degree of planning.

Management: The treatment of choice is counselling in most cases. In
more severe cases antidepressant medication is necessary. These may be
transferred in breast milk in small quantities but this does not mean
breast feeding must be stopped. Severe PND may require admission to a
mother and baby unit. ECT is highly effective when indicated and usually
results in rapid improvement. An assessment of the infants wellbeing is
vital as part of a comprehensive psychosocial and risk assessment.

Prognosis: Most respond to treatment but should be followed up closely
and may need long term therapy. Women who develop PND without pre-
existing history of depression are at risk of future episodes of PND but not
of non-puerperal depression.

Puerperal Psychosis

These episodes typically have a rapid onset, usually between day 4 to 3
weeks post delivery and almost always within 8 weeks. Initial symptoms
are often insomnia, restlessness and perplexity, later progressing to
suspiciousness and marked confusion with psychotic symptoms. These
can fluctuate dramatically in their nature and intensity over a relatively
short period of time. It is still unclear whether the puerperal psychoses
represent a separate disease entity, a mood disorder with psychotic
features, a schizophrenia episode, an organic psychosis or a combination
of these. However, in 80% of cases the presentation resembles a mood
disorder with delusions and hallucinations.

Epidemiology: Occurs in around 1 in 500 births.
Page | 74

Aetiology: Evidence suggests this disorder is most closely related to
bipolar affective disorder (and probably depression). The relatives of
these patients have a similar incidence of mood disorders as the relatives
of patients with mood disorders. Patients with puerperal psychosis are
also more likely to have a past psychiatric history of a mood disorder or a
family history of mental illness. Psychosocial factors seem to place less of
a role here compared with PND. Occasionally medication and obstetric
complications can be a cause so should be investigated. Other risk factors
include a primiparous mother (having first baby), a previous puerperal
psychosis or a delivery associated with caesarean section or perinatal
death.

Management: Here the assessment of risk of infanticide and suicide on a
mental state examination is crucial. Major concerning symptoms include
thoughts or self-harm or harm to the baby, severe depressive delusions
and command hallucinations. Hospitalisation is invariably necessary and
admission to a mother and baby unit is common. Detention under mental
health legislation may be necessary. Pharmacological treatment is the
same as for other psychotic episodes and may include antipsychotics,
antidepressants and lithium. Benzodiazepines can also be used with
severe behavioural disturbances. Note that, if breast feeding, caution
should be used with medications. ECT can be particularly useful in severe
or treatment resistant cases, irrespective of clinical presentation.

Prognosis: Most cases recover within 3 months (75% within 6 weeks).
There is around a 30% risk of recurrence with future pregnancies. Women
who have both puerperal and non-puerperal depressive or manic episodes
(an established mood disorder) have an 50-85% chance of future
puerperal episodes.

Medication use in breast feeding

TCAs The amount transmitted in breast milk is too small to be
harmful. Low dose amitriptyline appears to be safe
SSRIs Limited information available but the manufacturers advise
caution. Fluoxetine is excreted in very small amounts but has a long
half-life so may accumulate.
Lithium Risk of neonatal lithium toxicity as breast milk contains
40% of maternal lithium concentration,
Antipsychotics Only small amounts are excreted but there is a
possible effect on developing nervous systems. Avoid high doses
due to risk of lethargy in infants. Only use when benefits outweigh
risks.
Benzodiazepines and other hypnotics Avoid. May cause lethargy.

Page | 75

for suicide, self-harm, neglect and harm to others

prognosis for common psychiatric disorders to a patient, carer or
colleague

Bereavement and Guided Mourning

1. Knowledge of the normal, psychological and behavioural responses to
life events

Stress

A psychosocial stressor is the term used for any life event, condition or
circumstance that places a strain on a persons current coping skills. What
constitutes stress is entirely dependent on the specific persons ability to
adapt, or respond to a specific life challenge. A persons coping skills will
also vary throughout their developmental life; the death of a distant
relative may affect a middle aged man contemplating his own mortality
more than an invincible adolescent.
Whenever a patient presents with low mood or anxiety you should always
check for possible psychosocial stressors and establish how they
temporally relate to the onset of psychological symptoms. Some
seemingly insignificant stressors may be a significant factor to vulnerable
patients e.g. a change of accommodation for an elderly widow.

the ICD-10 diagnostic criteria, of common psychiatric disorders

It is not unusual to have some psychological symptoms after a stressful
or traumatic event/bereavement but in some cases these symptoms may
be in excess of those usually expected and subsequently impair a patients
functioning.
When assessing a patient for a pathological response to a stressful event
it is important to consider two variables:
1) The nature and severity of the event
2) The nature and severity of the patients reaction

Traumatic Stress

This is a stressor that occurs outside of the normal range of human
experience and is of such a magnitude that almost any normal person
would experience it as traumatic. This type of stress occurs in situations
Page | 76

where a person feels that their own, or a loved ones physical integrity is
under serious threat. This includes natural disasters, violent physical or
sexual assault, fatal or near fatal car accident, terrorist attacks, torture or
military combat. Bereavement is a more special case of traumatic stress
that is discussed later.

Depending on the nature of the traumatic event and the vulnerability of
the patient, the following conditions may develop:
1) An adjustment reaction
2) An acute stress reaction or PTSD
3) A dissociative disorder
4) Another major mental illness e.g. depression, anxiety or psychosis

Adjustment reaction

This reaction occurs in response to a wide, non-specific range of
emotional and behavioural symptoms in response to a psychosocial
stressor to which a patient has to adapt/adjust to. This can be to simple
things like moving house or to more severe things such as a traumatic
stressor in an individual who is resilient enough to not develop PTSD.
Symptoms include mild depression and/or anxiety and the feeling of being
unable to cope. Rarely there may also be disturbances of conduct e.g.
increased aggression. This reaction would not occur without the stressor
but a persons personality and vulnerability play a large role in their
response.
A diagnosis is made when an adjustment reaction occurs within 1 month
of a stressful life event and the duration of symptoms do not usually
exceed 6 months. This is a diagnosis of exclusion and is made when
symptoms do not meet the criteria for any other more specific disorder.

Stress reaction

The symptoms of an acute stress reaction occur immediately after or
within a few minutes of a stressor. These usually resolve in a few hours or
within 3 days if the stress is continued/cannot be reversed. Patients will
typically experience an initially dazed state, narrowing of attention,
disorientation and an inability to process external stimuli. This may be
followed by a period of diminished responsiveness or over activity.
Patients may also have amnesia for the episode.

PTSD

The symptoms of PTSD usually develop within 6 months of a traumatic
stressor and include all of the following:
Repetitive re-experiencing of the traumatic event in the form of
flashbacks, hallucinations and illusions and distress caused by
internal and external cues that resemble the stressor
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Avoidance of stimuli associated with the stressor, amnesia for
aspects of the trauma as well as emotional numbness and social
withdrawal
Increased arousal insomnia, anger outbursts, poor concentration
etc
Affects sleep nightmares
Perceived life-threatening event

Dissociation

These are disorders that describe a disruption in the integration between
consciousness, memory, identity, perception and movement and is where
a persons behaviour and personality become separated. ICD-10 requires
there to be some evidence of psychological causation in association with
the onset of dissociative symptoms.
Examples include:
Dissociative amnesia memory loss of recent events
Dissociative fugue purposeful sudden travel beyond a persons
normal range where self care and normal social interactions are
maintained
Dissociative stupor psychomotor retardation, unresponsiveness,
mutism, lack of movement
Dissociative convulsions pseudo seizures i.e. not real seizures

Bereavement

This is experienced by almost everyone at some part in their life and is a
normal part of human experience. This is usually after the loss of a loved
one but can also occur in response to other things such as the loss of
health (mental or physical), status, national figures or a pet. There are
five main stages of bereavement that a person can move between before
reaching the final stage (mostly moving between pining and depression).
The stages of bereavement are as follows:
Alarm - A highly stressed emotional state marked by physiological
arousal (increased heart rate and BP)
Numbness - A state of being emotionally disconnected - a form of
self-protection against the acute pain of loss
Pining - A state where the bereaved are constantly reminded of and
preoccupied with the deceased. Marked by pangs of anxiety and
grief. Hypnagogic and hypnopompic Pseudohallucinations and
illusions of the deceased may occur but are transient and always
involve the dead person
Depression and despair - A state where the bereaved have a
depress and irritable mood, thoughts of being 'better off dead' or
that they should have died with the deceased, anhedonia, loss of
appetite and weight, insomnia, impaired concentration and poor
short term memory
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Recover and reorganisation Acceptance of loss, return of food,
social and sexual appetite, weight is regained; grief diminishes but
may return for a time at anniversaries of the deceased

Patients who suffer bereavement are at subsequent risk of depression.
The following suggest the development of a major depressive episode:
Guilt about things other than actions taken/not taken by the patient
at the time of a loved ones death
Thoughts of death other than the patient would have been better off
dead or should have died too
Morbid preoccupation with worthlessness
Marked psychomotor retardation
Prolonged and marked functional impairment
Hallucinatory experiences other than the patient thinking that they
are transiently seeing or hearing the deceased

If a bereavement reaction, which is complicated by either a prolonged
duration or an abnormal quality of symptoms, does not meet the criteria
for a depressive episode then a diagnosis of adjustment disorder is made.

Friday Tutorials 2011




patient with a common psychiatric disorder

5. Recognise the limits of their own professional competence and seek
appropriate supervision

Page | 79

Page | 80

Child Health Topics and Topic Outcomes

Respiratory

Asthma

1. Understand the natural history of asthma during childhood

Asthma is common in childhood and affects 15-20% of children. Diagnosis
can be difficult since approximately half of all children wheeze at some
time during the first 3 years of life. In general there are two patterns of
wheezing: transient early wheezing and persistent and recurrent
wheezing. Asthma often begins as wheezing in infants with respiratory
infections. If these episodes remain mild and infrequent then asthma does
not usually persist into the school years. This is classed as transient early
wheezing and is thought to result from small airways being more likely to
narrow and obstruct due to inflammation and aberrant immune responses
to viral infection. Here a family history of asthma or allergy is not a risk
factor but maternal smoking is.
Recurrent and persistent wheezing on the other hand can affect both pre-
school and school-aged children and may be triggered by many stimuli.
The presence of IgE to common inhalant allergens is associated with
persistence of wheezing beyond the preschool years. This coupled with
evidence of allergy to one of more of these allergens is termed atopic
asthma. The patients have persistent symptoms and decreased lung
function and there is a strong association with other atopic diseases. After
infancy incidence falls to around 100/100,000 where it remains for life.

2. Be familiar with the key features of history and examination that
support a diagnosis of asthma

Asthma should be suspected in children with wheezing on more than one
occasion. The wheeze should be polyphonic and originate from the
airways. This can be described as a whistling to parents as the child
breathes out and its origin can be confirmed by auscultation. Other
features associated with a high probability of asthma include:
Symptoms worse at night and in the early morning
Symptoms that have a trigger i.e. pets
Interval symptoms between acute exacerbation
Personal/family history
Positive response to asthma therapy

On examination the chest is usually normal between attacks although in
long-standing asthma there may be hyperinflation of the chest,
generalised expiratory wheeze and a prolonged expiratory phase. Onset
of the disease in early childhood may result in Harrison sulci (depressions
Page | 81

at the base of the thorax). Signs of other allergic disorders should be
sought including the skin (eczema) and nasal mucosa (allergic rhinitis).
Growth should be plotted although is rarely abnormal. A detailed
examination may reveal clubbing, a wet productive cough or poor growth
and this could indicate a chronic infection such as CF or bronchiectasis. In
practice a diagnosis is made on a history of recurrent wheeze, with
exacerbations usually precipitated by respiratory infections.

Investigations are not usually necessary but skin prick tests, a chest x-ray
and PEFR can all help to exclude other conditions. PEFR can only be
realistically used in children over 5 and will show a diurnal variation
(lower in the morning) as well as a daily variation. A positive response to
treatment will show a 10-15% improvement in PEFR.

3. Be familiar with the other common clinical conditions that can mimic
asthma (gastroesophageal reflux, cystic fibrosis, viral induced wheezing,
bronchiolitis and croup)

Most of these will be mentioned later. Viral induced wheeze is very
common and is thought to affect around half of children up to the age of
3. It is most common in boys and usually resolves around the age of 5,
probably due to an increase in airway size.

4. Be able to manage an acute exacerbation of asthma

Assessing an acute exacerbation is important and the clinical features to
look for are:
Wheeze and tachypnoea (RR>50 in children 2-5 and >30 in children
5) poor guide to severity
Increased tachycardia (>130bpm in children 2-5 and >120bpm in
children 5) better guide to severity
Use of accessory muscles and chest recessions
Marked pulsus paradoxus (difference between SBP on inspiration
and expiration) increase indicates moderate to severe asthma
If breathlessness interferes with talking then severe
Cyanosis, fatigue and drowsiness are all late signs. A silent chest is
an emergency and is a sign that the child is about to arrest.
PEFR and oxygen saturations should also be assessed (<92% in air
is severe)

Management of an acute exacerbation varies depending on the severity of
the attack.

Moderate oxygen saturation >92% and PEFR >50% with no severe
clinical features. Here give a short acting B
2
agonist via spacer, 2-4 puffs
Page | 82

and increasing by 2 puffs every 2 minutes to 10 puffs if required.
Consider oral prednisolone and reassess within 1 hour.

Severe too breathless to talk or feed, use of accessory muscles, oxygen
saturations <92%, RR >50/min or 30/min depending on age, pulse >130
or 120 and PEFR <50%. Oxygen + Give short acting B
2
agonist 10 puffs
via spacer or nebuliser. Oral prednisolone or IV hydrocortisone should be
given and nebulised ipratropium bromide if a poor response. Repeat
bronchodilators every 20-30 minutes.

Life threatening silent chest, poor respiratory effort, altered
consciousness, cyanosis, oxygen saturations <92% and PEFR <33%.
Oxygen + nebulised B
2
agonist plus ipratropium bromide. IV
hydrocortisone should be given and the case discussed with a senior
clinician and the PICU team. Repeat bronchodilators every 20-30 minutes.

If responding continue bronchodilators 1-4 hours prn and discharge when
stable on 4 hourly treatment. Continue oral prednisolone for up to 3 days.

5. Know the details of the drugs used to treat acute and chronic asthma
and understand their mechanism of action

B
2
agonists e.g. Salbutamol and Terbutaline these act on beta
receptors to directly cause bronchodilation. They can be less effective in
very young children as they have fewer active beta receptors.

Anticholinergic bronchodilators e.g. Ipratropium bromide these have a
similar effect to beta agonist but act via a different receptors (the
sympathetic system) to achieve their affect.

Inhaled steroids e.g. Budesonide, Beclometasone, Fluticasone and
Mometasone these are a preventative treatment that act to prevent to
creation of inflammatory proteins and hence reduce any response caused
by the release of IgE or other chemical.

Long acting B
2
bronchodilators e.g. Salmeterol and Formoterol act on
the B
2
receptors for longer than Salbutamol

Methylxanthines e.g. Theophylline a complicated pathway that leads
to the relaxation of bronchiole smooth muscle

Leukotriene inhibitors e.g. Montelukast taken orally in children under
5 instead of a LABA. This drug is an antagonist that blocks the action of
leukotriene and hence reduces the bronchoconstriction otherwise caused
by it.

Page | 83

Oral steroids e.g. Prednisolone same action as inhaled steroids but
more potent and greater systemic effects (and also side effects).

Anti-IgE injections e.g. Omalizumab A monoclonal antibody designed
to target IgE and prevent an atopic reaction

6. Know the 5 steps of the SIGN/NTS guidelines for the management of
asthma

Children 5-12

Step 1 Inhaled short acting B
2
agonist as required
Step 2 Add inhaled steroid 200-400mcg/day
Step 3 Add LABA and assess control. If good then maintain, if
average then continue and increase steroid to 400mcg/day, if no
response then stop LABA and increase steroid to 400mcg/day. If
this is still inadequate then trial leukotriene receptor antagonist or
theophylline.
Step 4 Increased inhaled steroid to 800mcg/day
Step 5 Use daily steroid tablet in lowest dose to give control whilst
maintaining inhaled steroid at 800mcg/day. Also refer to respiratory
paediatrician.

Children under 5

Step 1 Inhaled short acting B
2
agonist as required
Step 2 Add inhaled steroid 200-400mcg/day or leukotriene
receptor antagonist if steroid cannot be used.
Step 3 Consider adding leukotriene receptor antagonist to inhaled
steroid or visa versa. In children under 2 consider moving to step 4
Step 4 Refer to respiratory paediatrician.

7. Be able to assess asthma control during childhood

Look for common signs of poor asthma control mentioned and also
regularly monitor PEFR. Assess compliance, correct usage and if the
correct regime is being used. Patient education is very important as well
as correct inhaler technique.

8. Be able to advice parents about how to care for a child with asthma

Provide an asthma management plan. Educate on when to use drugs, how
to use them, what they are for, how often and how much and what to do
if the asthma gets worse.
Page | 84

The child and parent need to know that increasing cough, wheezing,
breathlessness and difficulty in walking, talking, sleeping or decreasing
relief from bronchodilators all indicate poorly controlled asthma. A supply
of oral steroids can also be provided if necessary.

Bronchiolitis

1. Understand the aetiology and natural history of bronchiolitis

Bronchiolitis is the commonest serious respiratory infection of infancy. 2-
3% of all infants are admitted each year during the annual winter
epidemic and 90% are aged 1-9 months (bronchiolitis is rare after 1
year). Respiratory syncytial virus (RSV) is the pathogen responsible for
80% of cases and the remainder are accounted for by human
metapneumovirus, parainfluenza virus, rhinovirus, adenovirus, influenza
virus and mycoplasma pneumoniae.

2. Recognise and be able to describe the clinical features of bronchiolitis
and be able to relate these to normal physiology

Coryzal (common cold) symptoms precede a dry cough and increasing
breathlessness. Feeding difficulty associated with dyspnoea is often the
reason for admission. Recurrent apnoea is a serious complication,
especially in young infants. Those born prematurely, with CLD, CF or
congenital heart disease are most at risk of severe bronchiolitis.

Characteristic clinical findings include:
Sharp dry cough
Tachpnoea
Subcostal and intercostals recessions
Hyperinflated chest (prominent sternum and liver displaced
downwards)
Find end-inspiratory crackles
High-pitched wheezes (expiratory>Inspiratory)
Tachycardia
Cyanosis or pallor
Prolonged expiration

3. Know how to treat acute bronchiolitis

Investigations are rarely necessary but PCR of respiratory secretions may
be done to show RSV. A chest x-ray is rarely useful but will show
hyperinflation of the lungs due to small airways obstruction, air trapping
and often focal atelectasis (collapsing of part of the lung). Continuous
Page | 85

pulse oximetry will be done but blood gas analysis is rarely used unless
artificial ventilation is being considered.

Management is almost entirely supportive with humidified oxygen via
nasal cannulae at a concentration determined by pulse oximetry. The
infant is also monitored for apnoeas. Mist, antibiotics, steroids and
nebulised bronchodilators have not been shown to reduce the severity or
duration of illness. Fluids can be given IV or NG and assisted ventilation
via nasal or mask CPAP is used in a small percentage of infants.

RSV is very infectious so infection control measures are very important,
mainly good hand hygiene. The prognosis is good and most infants
recover within 2 weeks. However as many as half will have recurrent
episodes of cough and wheeze and rarely the illness will result in
permanent pulmonary damage (following adenovirus infection). A
monoclonal antibody to RSV reduces the number of hospital admissions in
high-risk preterm infants. Its use is limited by cost and need for monthly
IM injections.

4. Be able to advise parents about how to care for a child with a
bronchiolitis

Supportive
Warning signs for admission
Infection risk
What to expect

Cystic Fibrosis

1. Know and understand the aetiology and natural history of cystic fibrosis

Cystic fibrosis is the commonest life-limiting autosomal recessive
condition in Caucasians with an incidence of 1 in 2500 live births and a 1
in 25 carriage rate. Average life expectancy has risen from a few years to
the mid 30s to early 40s. The fundamental problem is a defective CFTR
protein which is basically a chloride dependent channel on the membrane
of cells. The gene is on chromosome 7 and over 1000 mutations have
been discovered to cause a defect, the most common of which is F508.
Additional factors such as environment can play a big role.

CF is a multisystem disorder which results mostly from the abnormal ion
transport across epithelial cells. In the airways this leads to a reduction in
the airway surface mucous layer (it thickens) and consequently an
impaired ciliary function and retention of mucopurulent secretions.
Chronic infection with pseudomonas aeruginoas ensues. Defective CFTR
also causes a dysregulation of inflammation and defence against infection,
Page | 86

a thick viscid meconium in the intestine (meconium ileus in 10-20% of
infants), blocked pancreatic secretions and abnormal function of male
reproductive ability and sweat glands.

In the UK the heel-prick test for immunoreactive trypsinogen is used to
screen for CF. Diagnosis is then confirmed by looking for the exact CF
mutations and performing a sweat test (CL 60-125 mmol/L normally
10-40mmol/L).

2. Recognise and be able to describe the clinical features of cystic fibrosis

The majority of children with CF are identified from screening but the
remainder may present with recurrent chest infections poor growth and
malabsorption. Chronic infection with specific bacteria leads to damage of
the bronchial walls, bronchiectasis and abscess formation. The child has a
persistent loose cough, productive of purulent sputum. On examination
there is hyperinflation of the chest due to air trapping, coarse Inspiratory
crepitations and/or expiratory wheeze. With established disease there is
finger clubbing and eventually 95% die of respiratory failure.

90% of children with CF have pancreatic exocrine insufficiency resulting in
maldigestion and malabsorption. Untreated, this leads to failure to thrive
and the passing of frequent large, pale, offensive and greasy stools.

Moving into adulthood an increasing complication is diabetes due to
pancreatic insufficiency. Up to 1/3 of patients will also show evidence of
liver disease with hepatomegaly on liver palpation, abnormal LFTs or an
abnormal ultrasound. Rarely this may progress to cirrhosis, portal
hypertension and liver failure. Liver transplants are very successful in CF
patients. Intestinal obstructions are also common and can be cleared by
oral Gastrografin.

There may be increased chest infections as well as other late respiratory
complications including pneumothorax and life-threatening haemoptysis.
Females maintain normal fertility but males are almost always infertile
due to blockage of the vas deferens.

Finally psychological implications need to be considered in all patients.

3. Be aware of the treatments available to children with cystic fibrosis
including medications, physiotherapy and nutrition

Recurrent and persistent bacterial chest infections are the major problem
in CF. In younger children their respiratory status can be monitored by
Page | 87

symptoms but in older children a FEV
1
should be done as a clinical
indicator of severity and decline with disease progression. With regular
treatment children should have no respiratory symptoms and often no
abnormal signs.

Children should have physiotherapy at least twice a day, aimed at
clearing the airways of secretions. In younger children parents are taught
to do airway clearance at home with chest percussion and postural
drainage. Older patients can perform controlled deep breathing exercises
and use a variety of physiotherapy devices for airway clearance. Physical
exercise is beneficial and should be encouraged.

Many experts recommend continuous prophylactic oral antibiotics (usually
flucloxacillin), with additional rescue antibiotics for any increase in
symptoms or decline in lung function. Persistent symptoms need to be
treated with 14 days of intensive IV antibiotic therapy that can now be
administered through a peripheral venous long line. Chronic pseudomonas
can also be a problem so daily anti-pseudomonal antibiotics are given.
Nebulised DNAse or hypertonic saline may be helpful in decreasing the
viscosity of the sputum and hence increase clearance.

Bilateral sequential lung transplantation is the only therapeutic option for
end-stage CF lung disease. Fortunately this is rarely required but carries a
10 year survival of over 50%.

Nutritional management is also important and should be assessed
regularly. Pancreatic insufficiency is treated with oral enteric coated
pancreatic replacement therapy taken with all meals and snacks. Dosage
is adjusted according to clinical response. A high-calorie diet is essential
and dietary intake is recommended at 150% of normal. To achieve this,
overnight feeding via a gastrostomy is increasingly used. Most patients
need fat-soluble vitamin supplements.

Epiglottitis

1. Be able to recognise the clinical features of Epiglottitis

Epiglottitis is a life-threatening emergency due to the high risk of
respiratory obstruction. It is caused by H.influenzae type B. In the UK and
many other countries the introduction of a universal Hib immunisation in
infancy has led to a >99% reduction in the incidence of Epiglottitis and
other invasive Hib infections.

Epiglottitis is characterised by intense swelling of the epiglottis and
surrounding tissue associated with septicaemia. This is most common in
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children aged 1-6 years but affects all age groups. It is important to
distinguish between this and croup as they require different treatments.

The onset of Epiglottitis is very acute with:
High fever in an ill, toxic-looking child
An intensely painful throat that prevents the child from speaking or
swallowing; saliva drools down the chin
Soft Inspiratory stridor and rapidly increasing respiratory difficulty
over hours
The child sitting immobile, upright, with an open mouth to optimise
the airway

In contrast to viral croup a cough is minimal or absent. Attempts to lie the
child down or examine the mouth with a spatula or perform a lateral neck
x-ray must not be undertaken as they can precipitate total airway
obstruction and death.

Urgent hospital admission and treatment are required. A senior
anaesthetist, paediatrician and ENT surgeon should be summoned and
treatment initiated without delay. The child should be intubated and only
after the airway is secure should antibiotics and other treatment be
started. The tube can usually be removed after 24 hours of antibiotics and
the remaining course given over 3-5 days. Prophylaxis with rifampicin is
offered to close household contacts.

2. Be able to distinguish Epiglottitis from other causes of upper airway
obstruction

Viral croup, foreign bodies, smoke inhalation and bacterial tracheitis are
all discussed later

Otitis Media

1. Recognise the importance of otitis media, be aware of causative
organisms and the treatment options available

Otitis media can be sub divided into two forms: acute and chronic. Most
children will have at least one episode of acute otitis media in their
lifetime and this is most common at 6-12 months. Up to 20% will have
three or more episodes. Young children are particularly vulnerable due to
a short and more horizontal eustachian tube. Characteristic symptoms are
fever and pain in the ear. The tympanic membrane will be visibly red and
bulging with a loss of the normal light reflex. Occasionally there may also
be a perforation.

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Pathogens include viruses (RSV in particular and rhinovirus) and bacteria
(pneumococcus, H.influenzae and Moraxella catarrhalis). Serious
complications include mastoiditis and meningitis but these are
uncommon.

Pain should be treated with an analgesic such as paracetamol or ibuprofen
with regular pain relief being better than intermittent as required relief.
This may be needed for up to a week until the acute inflammation has
settled down. Most cases of acute otitis media will resolve by themselves
and dont require any treatment. Antibiotics can marginally shorten the
duration of pain but have not been shown to reduce the risk of hearing
loss. It is often useful to give parents a prescription but ask them to only
use it if the child remains unwell after 2-3 days. Amoxicillin is widely used
and neither decongestants nor antihistamines are beneficial.

Recurrent otitis media (OME or glue ear) is a chronic asymptomatic (apart
from reduce hearing) condition in children. The ear drum is seen to be
dull and retracted, often with a visible fluid level. Tympanometry will
produce a flat trace and pure tone audiometry will show a conductive loss
(only useful if child is >4 years, otherwise try a distraction test). This
condition is very common between the ages of 2 and 7 with a peak
incidence between 2.5 and 5. Again this condition will resolve
spontaneously and there is no benefit to antibiotics, steroids or
decongestants.

However the conductive hearing loss can cause a developmental delay in
speech development and hence learning difficulties at school. Here
grommets (ventilation tubes) can be inserted or an adenoidectomy can be
performed.

2. Be able to advise parents about how to care for a child with acute otitis
media

Analgesia
Support
Reassurance
Antibiotics if not clear in 2-3 days (acute)

Pneumonia

1. Know and understand the aetiology and natural history of pneumonia
including knowledge of the common causative organisms

Pneumonia is most common in infancy and old age but the incidence is
relatively high in childhood. It is caused by a variety of bacteria and
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viruses although, in over 50% of cases, no causative pathogen is found.
Viruses are the most common cause in young children whilst bacteria are
the most common cause in older children. Clinically it is difficult to
distinguish between these two types. The pathogens generally found are:
Newborns organisms from the mothers genital tract i.e. group B
strep and gram negative enterococci
Infants and young children RSV is most common but also strep
pneumoniae and H.influenzae. Bordetella pertussis and chlamydia
trachomatis can also be a cause. Infrequently staph aureus can be a
cause and is very serious
Children over 5 - mycoplasma pneumoniae, strep pneumoniae and
chlamydia pneumoniae
At all ages mycobacterium tuberculosis should be considered

All children should be immunised against Hib and 13 common serotypes
of strep pneumoniae

2. Recognise and be able to describe the clinical features of pneumonia

Fever and difficulty breathing are the commonest presenting symptoms,
usually preceded by an upper respiratory tract infection. Other symptoms
include cough, lethargy, poor feeding and an unwell child. Localised
chest, abdominal or neck pain is a feature of pleural irritation and
suggests bacterial infection.

Examination may reveal tachypnoea, nasal flaring and chest indrawing.
The best clinical sign in children is an increased respiratory rate. There
may be end-inspiratory coarse crackles over the affected area. The classic
signs of consolidation with dullness on percussion, decreased breath
sounds and bronchial breathing over the affected area are often absent in
young children. Decreased oxygen saturations are an indication for
hospital admission.

A chest x-ray may confirm the diagnosis but, with the exception of a
classic lobar pneumonia (characteristic of strep pneumoniae), a chest x-
ray cannot differentiate between bacterial and viral pneumonia. A nasal
pharyngeal aspirate can help with the diagnosis but other blood tests are
less useful. A small proportion of pneumonias may develop a pleural
effusion with blunting of the costophrenic angles on x-ray. These effusions
may develop into empyemas which make drainage difficult. This can be
confirmed with an ultrasound of the chest.

3. Have knowledge of the treatment available to children with pneumonia
including antibiotics, oxygen ad physiotherapy
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Most cases can be managed at home but indications for hospital
admission include oxygen saturations less than 93%, severe tachypnoea
and difficulty breathing, grunting, apnoea, not feeding or a family unable
to provide appropriate care.

General supportive care should include oxygen for hypoxia, analgesia for
pain and IV fluids to maintain adequate hydration and salt balance.
Physiotherapy has no role here. The choice of antibiotics is determined by
age, severity of illness and the appearance on chest x-ray. Newborns
should have broad spectrum IV antibiotics whilst most older infants can
manage with oral amoxicillin. Broad spectrum antibiotics are reserved for
complicated or unresponsive children here (i.e. co-amoxiclav). For
children over 5 either oral amoxicillin or erythromycin are the treatments
of choice.

Effusions usually resolve with antibiotics but the small proportion that
develop an empyemas require drainage and collection. The may be done
via the placement of a chest drain with or without the installation of a
fibrinolytic agent into the pleural space to break down any septations, or
by surgical decortications.

Prognosis is good although those with evidence of lobar collapse,
atelectasis or empyemas should have a follow up x-ray at 4-6 weeks.
Virtually all children make a full recovery.

4. Be able to advise parents about how to care for a child with a chest
infection

Supportive care
Analgesia
Antibiotics
Signs and symptoms of concern
Reassurance

Tonsillitis

1. Know and understand the aetiology and natural history of tonsillitis

Tonsillitis is a form of pharyngitis where there is intense inflammation of
the tonsils, often with a purulent exudate. Common pathogens include
group A B-haemolytic streptococci and EBV. However the streptococci
may be cultured on many childrens tonsils who are not ill so it is unclear
why it sometimes causes disease. It is not really possible to clinically
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distinguish between viral and bacterial causes although the two entities
are said to look slightly different. Marked constitutional disturbances, such
as headache, apathy and abdominal pain, white tonsillar exudate and
cervical lymphadenopathy are more common with bacterial infection.

Antibiotics (penicillin or erythromycin if allergy) are often prescribed for
severe tonsillitis even though only one third are caused by bacteria. They
may however hasten the recovery from streptococcal infection. In severe
cases children may require hospitalisation for IV fluid administration and
analgesia if they are unable to swallow. Amoxicillin is best avoided as it
can cause a papular rash if the tonsillitis is due to infectious
mononucleosis.

2. Be able to advise parents about how to care for a child with tonsillitis

Supportive measures
Analgesia
Reassurance
Surgical options if repeat infections (5+ in one year?) usually
indications include recurrent otitis media with effusion, recurrent
severe tonsillitis, a peritonsillar abscess and obstructive sleep
apnoea

Upper Respiratory Tract Infection

1. Know and understand the aetiology and natural history of URTI

URTI include a wide range of conditions which are the common cold
(coryza), sore throat (pharyngitis), tonsillitis, otitis media and sinusitis.

Approximately 80% of all respiratory tract infections involve only the
nose, throat, ears or sinuses. The commonest presentation is a child with
a combination of nasal discharge and blockage, fever, painful throat and
earache. There may be a troublesome cough as well as difficulty feeding
in infants, febrile convulsions and acute exacerbations of asthma.

Coryza (the common cold) classically includes a clear or mucopurulent
nasal discharge and nasal blockage. The commonest pathogens are
rhinoviruses, coronaviruses and RSV. Parents should be advised that
these are self limiting and no specific curative treatment is needed.
Antibiotics are not necessary and a secondary bacterial infection is very
uncommon.

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Pharyngitis (sore throat) this is where the pharynx and soft palate are
inflamed and local lymph nodes are enlarged and tender. Sore throats are
usually due to a viral infection with respiratory viruses (adenoviruses,
enteroviruses and rhinoviruses). In older children group A B-haemolytic
streptococcus is a common pathogen.

Sinusitis an infection of the paranasal sinuses may occur with viral
URTIs. Occasionally there may be secondary bacterial infection with pain,
swelling and tenderness over the cheek from infection of the maxillary
sinuses. The frontal sinuses do not develop until later childhood so frontal
sinusitis is uncommon in the first decade of life. Antibiotics and analgesics
are used for acute sinusitis in addition to topical decongestants. The
concurrent use of intranasal steroids or antihistamines with antibiotics
may hasten recovery.

2. Know the physiological consequences of fever and the therapeutic
options and indications for the treatment of fever during childhood

Most febrile children have a self limiting viral infection. Mild localised
infections such as otitis media or tonsillitis may be diagnosed clinically. It
is important to consider:
1) How was the fever identified - <4 weeks by an electronic thermometer
in the axilla and 4 weeks to 5 years by an electronic or chemical dot
thermometer in the axilla or an infrared tympanic thermometer.
2) How old is the child infants under 3 months with non-specific
features often have a bacterial infection. It is uncommon for them to have
the common viral infections of older children as they should still have
passive immunity from their mother.
3) Risk factors illness of other family members, unimmunised, travel
abroad, immunodeficiency and contact with animals.
4) How ill is the child Serious if fever >38 if <3 months and >39 if 3-6
months. Pale or blue, reduced consciousness, respiratory distress,
dehydrated or shocked.
5) Is there a rash?
6) Is there a focus for infection?

Management the source of infection may need treating depending on its
severity. Most children simply have a URTI and can be managed at home
if the parents are given clear instructions. The child should not be
undressed and the use of anti-pyretic agents should be considered in
children with a fever who appear distressed or unwell. Either paracetamol
or ibuprofen can be used and they may be used alternatively if the child is
irresponsive to either agent alone. Febrile seizures may occur and are
mentioned in later objectives.

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3. Be able to advise parents about how to care for a child with an URTI

Advice on management
Reassurance
Signs to look for

Viral Croup

1. Know and understand the aetiology and natural history of viral croup

Croup is a condition characterised by mucosal inflammation and increased
secretions affecting the airway. It is the oedema of the subglottic area
that is potentially dangerous in young children because it may result in
critical narrowing of the trachea. Viral croup accounts for 95% of
laryngotracheal infections. Parainfluenza viruses are the commonest
cause, but other viruses, such as human metapneumovirus, RSV and
influenza can produce a similar clinical picture.

Croup occurs from 6 months to 6 years of age but the peak incidence is in
the second year of life. It is commonest in the autumn and typical
features include a barking cough, harsh stridor and hoarseness, usually
preceded by fever and coryza. The symptoms often start and are worse at
night.

2. Know the management options available, including drugs, oxygen and
supportive therapy

When the airway obstruction is mild the stridor and chest recessions
disappear at rest. The child can usually be managed at home but the
parents need to observe the child closely. The decision of where to
manage the child is based on severity, age, time of day, parental
confidence and access to services.

Inhalation of warm moist air is widely used but is of no proven benefit.
Oral dexamethasone, oral prednisolone and nebulised steroids reduce the
severity and duration of croup, and the need for hospitalisation. In severe
upper airway obstruction, nebulised epinephrine (adrenaline) with oxygen
by facemask provides transient improvement. Close monitoring along with
advice from an anaesthetist or intensivist is imperative due to the risk of
rebound symptoms once the adrenaline has worn off after around 2
hours. Few children require tracheal intubation due to the introduction of
steroid therapy.

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3. Be able to advise parents about how to care for a child with viral croup

Close monitoring
Support
Reassurance

4. Be able to make a confident differential diagnosis for the various
causes of upper airway obstruction

Croup Epiglottitis
Onset Days Hours
Preceding coryza Yes No
Cough Severe, barking Absent, slight
Able to drink Yes No
Drooling No Yes
Appearance Unwell Toxic, very ill
Fever <38.5 >38.5
Stridor Harsh, rasping Soft, whispering
Voice, cry Hoarse Muffled, reluctant to
speak

Other causes include an inhaled foreign body (very short history),
trauma, smoke inhalation, bacterial tracheitis or congenital. Most of these
have quite clear cut histories which differentiate them from each other.

Inhaled Foreign Body

1. Be able to provide immediate care for a choking child

Assess the severity then call for help. If there is an effective cough then
encourage coughing and continue to check for deterioration. If the cough
is ineffective then give 5 back blows followed by 5 thrusts (chest for
infant and abdominal for >1 year) if conscious. If unconscious then open
airway, give 5 breaths and start CPR.

Pertussis

1. Know the aetiology and natural history of Pertussis

Also know as whooping cough, this is a highly contagious respiratory
infection caused by bordetella pertussis. It is endemic, with epidemics
every 3-4 years. After a week of coryza (catarrhal phase) the child
develops a characteristic paroxysmal or spasmodic cough followed by a
characteristic Inspiratory whoop (paroxysmal phase). The spasms of
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cough are often worse at night and may culminate in vomiting. During a
paroxysm the child goes red or blue in the face and mucus flows from the
mouth and nose. The whoop is often absent in infants but apnoea is
common instead. Epistaxis and subconjunctival haemorrhages can occur
with vigorous coughing and the paroxysmal phase can last 3-6 weeks.
The symptoms then gradually decrease (convalescent phase) but may still
persist for months. Complications including pneumonia, convulsions and
bronchiectasis are uncommon but there is still significant mortality.
Infants who have not completed their primary vaccination at 4 months
are particularly at risk.

2. Understand the effect of immunisation on presentation of clinical
features

Pertussis organism can be eradicated with erythromycin although this
only reduces symptoms if started in the catarrhal phase. Close contacts
should receive erythromycin prophylaxis and unvaccinated contacts
should be vaccinated.

Immunisation reduces the risk of developing pertussis and the severity of
the disease in those affected, but does not guarantee protection. The
level of protection steadily declines during childhood.

3. Be able to advise parents of a child with a suspected case of pertussis

Symptoms will eventually resolve
Get prophylaxis or immunisation for close contacts
Advise about common symptoms
Explain symptoms that are worrying

Tuberculosis

1. Be able to recognise the clinical features of tuberculosis in children

TB infection can be both symptomatic and asymptomatic. Nearly half of
infants and 90% of older children will show minimal signs and symptoms
of infection. A local inflammatory reaction limits the progression of
infection. However the disease remains latent and may therefore develop
into active disease at a later time. A mantoux test may become positive
and is sufficient evidence to initiate treatment (+ve if >10mm or >15mm
if they have had the BCG immunisation).

If the local host response fails to contain the inhaled tubercle bacilli then
it may spread via the lymphatic system to regional lymph nodes. The lung
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lesion plus lymph nodes constitutes the Ghon or primary complex. The
hosts cellular immune response will respond 3-6 weeks later and
mycobacterial replication will diminish but systemic symptoms will
develop: fever, anorexia/weight loss, cough and chest x-ray changes.
The primary complex usually heals and may even calcify. The
inflammatory reaction may lead to local enlargement of peribronchial
lymph nodes which may cause bronchial obstruction, with collapse and
consolidation of the affected lung. Pleural effusions may also be present.

TB may also involve other organs including the gut, skin and superficial
lymph nodes.

TB can become dormant but subsequently reactive and cause post
primary TB. This may be local or widely disseminated military TB to sites
such as the bones, joints, kidneys, pericardium and CNS. In infants and
young children seeding to the CNS is particular likely and leads to
tuberculous meningitis.

2. Have a knowledge of treatment options required and the difficulties in
ensuring adherence in children

Treatment is usually with quadruple therapy (rifampicin, isoniazid,
pyrazinamide and ethambutol). This is decreased to two drugs (rifampicin
and isoniazid) after 2 months, by which time antibiotic sensitivities should
be known. Treatment for uncomplicated TB is usually for 6 months but
longer courses are required for meningitis or if it is disseminated.
Pyridoxine is given weekly, if the person is post puberty, to prevent a
peripheral neuropathy from isoniazid. Asymptomatic children who are
mantoux positive, and therefore latently infected, should be treated with
two drugs for 3 months to decrease the risk of reactivation of infection in
later life.

Adherence to drug therapy can be problematic but is essential for
successful treatment.

Bacterial Tracheitis

1. Be able to recognise the clinical features of bacterial Tracheitis

This condition is also called pseudomembranous croup and is a rare but
dangerous condition very similar to croup with the exception that the child
has a high fever, appears toxic and has rapidly progressive airway
obstruction with copious thick airway secretions. It is caused by an
infection with staph aureus and treatment is with IV antibiotics and
intubation and ventilation if required.

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Smoke Inhalation

1. Understand the immediate danger posed by burns and smoke
inhalation in relation to the anatomy of the airway and be familiar with
emergency protocols for their management

When a person inhales a large amount of smoke the bodies normal
defence mechanisms for removing particulate matter are overcome. This
means that coughing and sneezing become practically useless. The
alveoli, and other parts of the respiratory tract, become coated in
particulates which impair gas exchange and reduce the amount of oxygen
getting into the body. Smoke can also be incredibly hot and inhalation
burns are common to the very upper respiratory tract. These burns
around the airway can lead to swelling and occlusion of the airway further
down the line. Finally smoke can contain many nasty chemicals such as
carbon monoxide or toxic fumes which can cause a desaturation of
haemoglobin and loss of consciousness.

Symptoms of smoke inhalation include a cough, SOB, sore throat,
headache and confusions. There can also be a lot of mucosal oedema
caused by the burning of the mouth and throat. The patient may be blue
or cyanosed as asphyxia sets in due to the deposition of smoke in the
lower lungs. Respiratory rate will also increase accordingly.

To manage the patient should be taken to safety and placed in fresh air
before being given high flow and humidified oxygen to breathe. 100%
oxygen helps to remove CO from the blood quickly and reduces any
poisoning affect that it may have had. CO is the leading cause of cardiac
arrest and death before patients reach hospital. About 50% of patients
will need intubation and PEEP to maintain the airway.

Cardiovascular

Cardiac Failure

1. Be able to describe the presenting features

Symptoms:
Breathlessness (particularly on feeding or exertion)
Sweating
Poor feeding
Recurrent chest infections

Signs:
Poor weight gain or faltering growth
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Tachypnoea
Tachycardia
Heart murmur, gallop rhythm
Enlarged heart
Hepatomegaly
Cool peripheries

Signs of right sided heart failure (ankle oedema, sacral oedema and
ascities) are rare in developed countries but can be seen with long-
standing rheumatic fever or pulmonary hypertension, with tricuspid
regurgitation and right atrial dilatation.

2. Take a history and examination from a child with cardiac symptoms

Cyanosis
Clubbing of fingers or toes
Pulse rate rhythm, volume
Inspection distress, precordial bulge, scars, ventricular impulse
Palpation thrill (palpable murmur ), apex (4
th
-5
th
intercostals
space, mid-clavicular line), right ventricular heave (lower left sterna
edge) shows right ventricular hypertrophy
Auscultation heart sounds in four areas (apex, LLSE, ULSE, URSE)
and the back. Check for murmurs, loud heart sounds, splitting of
heart sounds
Hepatomegaly
Lung bases
Femoral pulses
Blood pressure

Normal pulse rate

Age Beats/min
<1 Year 110-160
2-5 Years 95-140
5-12 Years 80-120
>12 Years 60-100

3. Be able to consider the differential diagnosis

In the first week of life heart failure usually results from left heart
obstruction (e.g. Coarctation of the aorta). If the obstructive lesion is very
severe then arterial perfusion may be predominantly by right to left flow
of blood via the arterial duct, so called duct-dependent systemic
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circulation. Closure of the duct under these circumstances rapidly leads to
severe acidosis, collapse and death unless ductal patency is restored
(usually by prostaglandin infusion).

After the first week of life, progressive heart failure is most likely due to a
left to right shunt. During the subsequent weeks, as the pulmonary
vascular resistance falls, there is a progressive increase in left to right
shunt and increasing pulmonary blood flow. This causes pulmonary
oedema and breathlessness. These symptoms will increase up to the age
of about 3 months but may subsequently improve as the pulmonary
vascular resistance rises in response to the left to right shunt.

If left untreated these children will develop Eisenmenger syndrome which
is an irreversibly raised pulmonary vascular resistance. This means the
new shunt is from right to left and the teenager is blue. If this occurs then
the only surgical option is a heart-lung transplant.

Causes of heart failure:
Neonates (duct-dependent) aortic valve stenosis, Coarctation of
the aorta, interruption of the aortic arch and hypoplastic left heart
syndrome
Infants (high pulmonary blood flow) VSD, AVSD or large
persistent ductus arteriosus
Older children and adolescents (right to left heart failure)
Eisenmenger syndrome, rheumatic heart disease, cardiomyopathy

4. Outline the initial management of a child with cardiac failure

This depends on the time of presentation, symptoms and what the cause
is thought to be. Investigations are vital and should include a general
examination, blood pressures, peripheral pulses, bloods, ECG, chest x-
ray, pulse oximetry and echocardiogram.

With duct dependent circulations then a prostaglandin infusion should be
given to maintain the duct patency until the defect can be fixed. With a
right to left shunt and high pulmonary flow the patient should be put on
diuretics and captopril (ACE inhibitor). Depending on the problem it
should either resolve or will need surgical intervention. Beta blockers and
digoxin also have their role to play.

Murmurs (including innocent)

1. List the key features that distinguish innocent from pathologic murmurs

The vast majority of children with murmurs have a normal heart.
Innocent murmurs can be heard at some time in almost 30% of children
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(most commonly at the age of 3-4). The signs of an innocent ejection
murmur are:
Asymptomatic patient
Soft blowing murmur
Systolic murmur only, not diastolic
Left sternal edge
Also
Normal heart sounds with no added sounds
No parasternal thrill
No radiation

During a febrile illness or anaemia, innocent or flow murmurs are often
heard because of increased cardiac output. Therefore it is important to
examine a child when such other illnesses have been corrected.

Many newborn infants with potential shunts have neither symptoms nor a
murmur at birth, as the pulmonary vascular resistance is still high.
Therefore, conditions such as VSD or ductus arteriosus may only become
apparent at several weeks of age when the pulmonary vascular resistance
falls.

2. Describe the features of a venous hum

Venous hum is a common and harmless condition found in children. The
murmur can be heard above the right clavicle and over the right jugular
vein. The flow of blood here causes the vein walls to vibrate and this
creates a humming noise. The hum is heard throughout the cardiac cycle
and placing a finger on the jugular vein will abolish the sound. The
murmur may also disappear if the patient is supine or if the patient turns
their heard to one side.

3. Following CVS examination, be able to diagnose common murmurs

Murmurs and their characteristics are included in the individual sections
for each congenital heart condition.

Acyanotic Congenital Heart Disease

1. List the epidemiology, features and management of common types of
acyanotic heart disease e.g. VSD/ASD/AS/PS

General epidemiology 8 per 1000 live born infants have significant
cardiac malformations and some abnormality of the cardiovascular system
(e.g. a bicuspid aortic valve), is present in 1-2% of live births.
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ASD

This is a form of left to right shunt and makes up around 7% of cardiac
malformations. There are two types of ASD: a secundum ASD (80%) and
a partial AVSD.

Both present with similar symptoms and signs but their anatomy is quite
different. The secundum ASD is a defect in the centre of the atrial septum
involving the foramen ovale. A partial AVSD is a defect of the
atrioventricular septum and is characterised by an inter-atrial
communication between the bottom end of the atrial septum and the
atrioventricular valves.

Clinical features

Symptoms: commonly none, recurrent chest infections/wheeze,
arrhythmias (4
th
decade onwards)

Physical signs: an ejection systolic murmur best heard at the ULSE (due
to increased flow across the pulmonary valve because of the left to right
shunt). A fixed and widely split second heart sound (hard to hear). With a
partial AVSD an apical pansystolic murmur may be heard

Investigations

Chest radiograph: cardiomegaly, enlarged pulmonary arteries and
increased pulmonary vascular markings.

ECG: Secundum ASD will show a partial RBBB (can also occur in normal
children) and right axis deviation due to right ventricular enlargement. A
partial AVSD will give a superior QRS axis (largely negative in AVF) due
to the defect being near the AV node.

Echocardiogram: Will delineate the anatomy and is the mainstay of
diagnostic investigations

Management

Children with a large enough defect to cause right ventricular dilation will
require treatment. For a secundum ASD this is by cardiac catheterisation
with the insertion of an occlusion device. For partial AVSD surgical
correction is required. Treatment is usually undertaken at about 3-5 years
of age in order to prevent right heart failure and arrhythmias in later life.

VSD

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This is another form of left to right shunt and accounts for roughly 30% of
all cases of congenital heart disease (most common by far!). There is a
defect anywhere in the ventricular septum, perimembranous (adjacent to
the tricuspid) or muscular. They can be considered according to their size.

Small VSD (smaller than the aortic valve <3mm)

Clinical features

Symptoms: Asymptomatic

Physical signs: Loud pansystolic murmur at LLSE (loud = small) and a
quiet pulmonary second sound

Investigations

Chest radiograph: normal

ECG: normal

Echocardiogram: shows the defect with no pulmonary hypertension

Management

These lesions will close spontaneously and this is ascertained by the
disappearance of the murmur with a normal ECG on follow-up by a
paediatrician or paediatric cardiologist, and by a normal echocardiogram.
Whilst the VSD is present, prevention of bacterial endocarditis is by
maintaining good dental hygiene.

Large VSD (bigger than the aortic valve >3mm)

Clinical features

Symptoms: heart failure with breathlessness and failure to thrive after 1
week old. Patient will also have recurrent chest infections.

Physical signs: tachypnoea, tachycardia and enlarged liver all from heart
failure. Active precordium should be felt (volume overload) and a soft
(large defect) pansystolic murmur will be heard at the LLSE. An apical
mid-diastolic murmur will be present (due to increased flow across the
mitral value from blood leaving the lungs) as will a loud pulmonary
second sound due to raised pulmonary arterial pressure.

Investigations

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Chest radiograph: cardiomegaly, enlarged pulmonary arteries, increased
pulmonary vascular markings and pulmonary oedema.

ECG: biventricular hypertrophy by 2 months of age (upright T wave
pulmonary hypertension)

Echocardiography: shows defect

Management

Drug therapy for heart failure is with diuretics, often combined with
captopril. Additional calorie input is also required. There is always
pulmonary hypertension with a large VSD and left to right shunt and this
will ultimately lead to irreversible damage and Eisenmenger syndrome. To
prevent this surgery is usually performed at 3-6 months of age.

AS

Aortic stenosis makes up 5% of congenital heart malformations and is
where the aortic valve leaflets are partly fused together, giving a
restrictive exit from the left ventricle. There may be one to three leaflets.
Aortic stenosis may not be an isolated lesion and is often associated with
mitral valve stenosis and Coarctation of the aorta.

Clinical features

Most present with an asymptomatic murmur but those with severe
stenosis may present with reduced exercise tolerance, chest pain on
exertion or syncope. In the neonatal period those with critical aortic
stenosis and a duct-dependent systemic circulation may present with
severe heart failure leading to shock

Physical signs: small volume and slow rising pulse, carotid thrill (always),
ejection systolic murmur at the URSE radiating to the neck, delayed and
soft aortic second sound and an apical ejection click.

Investigations

Chest radiograph: normal or prominent left ventricle with post-stenotic
dilatation of the ascending aorta.

ECG: may show left ventricular hypertrophy (deep s wave in V2 and tall r
wave in V6) (down going t wave suggests left ventricular strain and
severe aortic stenosis).

Management

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In children a regular clinical and echocardiographic assessment is required
in order to assess when to intervene. Children with symptoms on exercise
or who have a high resting pressure gradient (>64mmHg) across the
aortic valve will undergo balloon valvotomy. Balloon dilatation in older
children is generally safe but in neonates it is much more difficult and
dangerous. Most children with significant stenosis requiring treatment in
the first few years of life will eventually require aortic valve replacement.

PS

Pulmonary stenosis makes up 7% of congenital heart malformations and
is where the pulmonary valve leaflets are partly fused together giving a
restricted exit from the right ventricle.

Clinical features

Most are asymptomatic and are diagnosed clinically. A small number of
neonates with critical pulmonary stenosis have a duct dependent
pulmonary circulation and present in the first few days of life with
cyanosis.

Physical signs: an ejection systolic murmur best heard at the ULSE and a
thrill may be present. An ejection click may be heard at the ULSE and,
when severe, there is a prominent right ventricular impulse (heave).

Investigations

Chest radiograph: normal or post-stenotic dilatation of the pulmonary
artery.

ECG: evidence of right ventricular hypertrophy (upright t wave in V1)

Management

Most children are asymptomatic and when the pressure gradient across
the pulmonary valve becomes markedly increased (>64mmHg)
intervention will be required. Trans-catheter balloon dilatation is the
treatment of choice in most children.

AVSD

1. Describe the anatomy and murmur characteristics

Atrioventricular septal defects can be complete or partial (described above
in ASD). They are most commonly seen in children with downs syndrome
and affects nearly 25% if these children. The anatomy of this defect is
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basically that there is a hole in the centre of the heart. This creates a
passage between both atria and a passage between both ventricles. This
also leads to the obliteration of valves so that there is only one valve on
each side of the heart (between the atrium and ventricle) but this is often
very leaky.

Since the left side of the heart is at a high pressure this causes blood to
move from the left atrium and ventricle into the right atrium and ventricle
and causes pulmonary hypertension. There is generally an increase in
right ventricular compliance so the right atrium enlarges and the left
atrium may too.

In partial AVSD there is only an atrial component and there are two
valves. However the mitral valve is often poorly formed and leaky.

The murmur characteristics may vary significantly but could include the
following:
Systolic ejection murmur (increase flow through pulmonary valve
and splitting of S2)
Mid-diastolic murmur (LLSE increased flow through mitral valve)
Apical holosystolic murmur (radiating to left axilla due to mitral
insufficiency)

The patient may present on antenatal ultrasound screening or with
cyanosis at birth/heart failure at 2-3 weeks of life.

Management is to treat heart failure medically and surgical repair of the
defect at 3-6 months.

2. Be aware of the association with trisomy 21

Around 15-20% of children with downs syndrome with have AVSD and
around 45% of children with downs syndrome will have some form of
congenital heart disease.

3. Outline the presenting features clinically, on ECG and CXR

The ECG will be complex but should show left axis deviation, right atrial
enlargement, bi-ventricular hypertrophy, and an incomplete RBBB. A
prolonged PR interval (1
st
degree heart block) is likely due to an abnormal
AV node.

CXR will show cardiomegaly and increased pulmonary vasculature.

Coarctation of the Aorta

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1. Presenting features and diagnosis

This is due to arterial duct tissue encircling the aorta just at the point of
insertion of the duct. When the duct closes, the aorta also constricts,
causing severe obstruction to the left ventricular outflow. This is the
commonest cause of collapse due to left outflow obstruction.

Clinical features

Examination on the first day of life is usually normal. The neonates
usually presents with acute circulatory collapse at 2 days of age when the
duct closes.

Physical signs: a sick baby with severe heart failure, absent femoral
pulses and severe metabolic acidosis. A murmur may also be heard at the
ULSE.

Investigations

Chest radiograph: cardiomegaly from heart failure and shock

ECG: normal

It is often associated with other problems such as a VSD, Turners
syndrome and bicuspid aortic valve.

2. Be aware of the association with bicuspid AV and common syndromes

A bicuspid aortic valve is a congenital condition where two aortic valvelets
have fused during development to give a bicuspid valve. These are the
most common congenital valve deformity and occur in 1-2% of the
population. Often these cause no problems but they can become calcified
in later life which will lead to varying degrees of stenosis and a murmur.
This can eventually lead to aortic regurgitation and the need for surgery.
These people will lack stamina and find themselves getting tired easily.

VSD is another association with Coarctation of the aorta

Turners syndrome is also associated and is only found in females. It is
where there is only one complete X chromosome in each cell and this can
lead to many problems of almost every body system.

3. Be aware of the surgical management

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As for all children with an obstructed left outflow tract, surgical repair is
performed soon after diagnosis. Firstly prostaglandins and drugs to
manage the heart failure are given.

Angioplasty with or without stenting may be used to correct the area.
However sometimes open surgery is needed and techniques include
resection and anastomoses, a bypass graft or a more tailored
reconstructive approach. Balloon angioplasty appears to only buy time.

Duct Dependent Lesions

1. List the common types e.g. Coarctation/TGA/HLHS/PA/TA

Coarctation Coarctation of the aorta
TGA Transposition of the great arteries
HLHS Hypoplastic left heart syndrome
PA Pulmonary atresia
TA Tricuspid atresia

Aortic stenosis if severe
Pulmonary stenosis if severe

Almost all of these conditions have their own sections dedicated to them.
However it is worth mentioning about pulmonary and tricuspid atresia.

Tricuspid atresia is where this valve is absent or abnormally developed
and hence blood flow is blocked from passing from the right atrium to
right ventricle. A child with this condition must have an ASD and VSD to
survive. A patent ductus arteriosus usually also persists to allow greater
pulmonary flow.

Pulmonary atresia is where the pulmonary valve fails to develop and
completely blocks the outflow of blood from the heart to the lungs. In
utero this does not cause a problem but when born the only thing
providing oxygen to the lungs is the ductus arteriosus. The baby will
usually turn blue rapidly and this should lead to a quick diagnosis.

2. Outline the immediate management when the duct is closing

The immediate management is to restore the duct via a prostaglandin
infusion. This is a short term solution and formaldehyde should be
infiltrated into the structure for the longer term.

Patent Ductus Arteriosus
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1. Outline from fetal circulation to later presenting features and its
management

In a fetus the ductus arteriosus provides a connection from the pulmonary
artery to the descending aorta. When maternal oxygenated blood enters
the right atrium it is pumped across the foramen ovale into the left atrium
as well as some into the right ventricle. As no blood is really needed in
the lungs, the blood enters the pulmonary artery and crosses the ductus
arteriosus into the aorta. When born the pulmonary resistance increases
which means the left side of the heart increase in pressure by over 6
times and this closes the foramen ovale. The ductus arteriosus now has
blood flowing in the opposite direction and should close in the next few
hours or days.

If the duct has failed to close 1 month after the expected date of delivery
then it is classified as persistent. This is usually because the mechanism
that constricts the duct has failed. The blood flow is now from the aorta
and into the pulmonary artery i.e. left to right which will make the patient
breathless. In preterm infants this will likely be due to prematurity and
should close by itself eventually.

Clinical features

Most children present with a continuous murmur beneath the left clavicle.
This murmur continues into diastole because the pressure in the
pulmonary artery is always lower than the aorta. The pulse pressure is
increased and this causes a collapsing or bounding pulse. Symptoms can
be unusual but when the duct is large there will be increased pulmonary
blood flow with heart failure and pulmonary hypertension.

Investigations

The chest radiography and ECG will usually be normal but if large enough
then the features seen will be indistinguishable from those seen with a
large VSD. The duct can be easily identified on echocardiography.

Management

Closure is recommended to abolish the lifelong risk of bacterial
endocarditis and of pulmonary vascular disease. Closure is with a coil or
occlusion device introduced via a cardiac catheter at about 1 year of age.
Occasionally surgical ligation is required.

SVT

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1. Describe the presenting features both clinically and on ECG

This is the most common childhood arrhythmia and presents with a rapid
heart rate between 250 and 300 beats/min. There can cause poor cardiac
output and pulmonary oedema. It typically presents with symptoms of
heart failure in the neonate or young infant and it is a cause of hydrops
fetalis (accumulation of fluid in several separate compartments) and
intrauterine death.

The term re-entry tachycardia is used because a circuit of conduction is
set up, with premature activation of the atrium via an accessory pathway.
There is rarely a structural heart problem but an echocardiogram should
be performed to be certain.

The ECG will show a narrow complex tachycardia of 250-300 beats/min. It
may also be possible to discern P waves after the QRS complex due to
retrograde activation of the atrium via the accessory pathway. T wave
inversion may occur with heart failure. When in sinus rhythm a short P-R
interval may be discernable. In Wolff-Parkinson-White syndrome there will
be a short P-R interval and a delta wave.

2. Describe management options both pharmacologically and non-
pharmacologically

In an ill child the prompt restoration of sinus rhythm is key to
improvement. This can be achieved in several ways:
Circulatory and respiratory support correct tissue acidosis and
give positive pressure ventilation if required
Vagal stimulation manoeuvres e.g. carotid sinus massage or ice cold
pack to face, successful in around 80%
IV adenosine is the treatment of choice. This is safe and effective
and induces atrioventricular block after a rapid bolus injection. It
terminates the tachycardia and hence breaks the re-entry circuit
that has been set up between the AV node and accessory pathway.
It is given incrementally in increasing doses.
Electrical cardioversion with a synchronised DC shock (0.5-2 J/kg
body weight) if adenosine fails

Once sinus rhythm is restored maintenance therapy is needed e.g. with
flecainide or sotalol. Digoxin can be used on its own when there is no
overt pre-excitation wave on the resting ECG but propranolol can be
added in the presence of pre-excitation. Even with an abnormal resting
ECG, 90% of children will have no further attacks in infancy. Therefore
treatment is stopped at one year. Those with WPW need to be assessed
and given potential atrial pacing or cryoablation (or radiofrequency
ablation) of the accessory pathway.
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3. Be aware of the aetiology

See first section

Tetralogy of Fallot

1. List the key features that make TOF

This is the most common cause of cyanotic congenital heart disease and
is composed of four cardinal anatomical features:
A large VSD
Overriding of the aorta with respect to the ventricular septum
(basically this means it receives into from both the left and right
ventricles)
Subpulmonary stenosis causing right ventricular outflow tract
obstruction
Right ventricular hypertrophy as a result

Symptoms

Most are diagnosed antenatally or following the identification of a murmur
in the first two months of life. Cyanosis at this stage may not be obvious
although a few present with severe cyanosis in the first few days of life.
Hypercyanotic spells are now rare in developed countries but are basically
a rapid increase in cyanosis usually associated with irritability and
inconsolable crying because of the severe hypoxia. There is also
breathlessness and pallor because of tissue acidosis.

Signs

Clubbing of the fingers and toes will develop in older children. There will
also be a loud, harsh ejection systolic murmur at the left sterna edge
from day 1 of life. With increasing right ventricular outflow obstruction the
murmur will shorten and cyanosis will increase.

Investigations

Chest radiograph: a radiograph will show a relatively small heart, possibly
with an uptilted apex due to right ventricular hypertrophy (this will be
more prominent in an older child). There may be a right sided aortic arch
but more characteristically there is a pulmonary artery bay which is a
concavity on the left heart border where the convex-shaped main
pulmonary artery and right ventricular outflow tract would normally be
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seen. There may also be decreased pulmonary vascular markings
reflecting the reduction in pulmonary blood flow.

ECG: Normal at birth and showing right ventricular hypertrophy when
older

2. Early and late management (BT shunt vs. complete correction)

Initial management should be medical with definitive surgery at around 6
months of age. This involves closing the VSD and relieving the right
ventricular outflow obstruction, sometimes with an artificial patch which
extends across the pulmonary valve (to repair the VSD).

Infants who are very cyanosed in the neonatal period may require a BT
shunt (not often done) to increase pulmonary blood flow. This is usually
done surgically by placing an artificial tube between the subclavian artery
and the pulmonary artery. This can sometimes be achieved by balloon
dilatation of the right ventricular outflow tract.

Hypercyanotic spells are usually self limiting but if beyond 15 minutes
then they require prompt treatment. This involves sedation, IV
propranolol, IV fluids, bicarbonate for the acidosis and paralysis plus
ventilation.

Transposition of the Great Vessels

1. Understand the parallel circulation and duct dependence

With this condition the aorta is connected to the right ventricle and the
pulmonary artery is connected to the left ventricle. Therefore the blue
blood is returned to the body and the pink blood is returned to the lungs.
This creates two parallel and completely isolated circuits and, unless there
is mixing of blood between them, then this condition is incompatible with
life. Fortunately naturally occurring defects such as VSD and ASD are
common. A PDA as well as therapeutic interventions can achieve this
mixing for a short amount of time.

Clinical features

Symptoms: Cyanosis is the predominant symptom and it can be profound
or even life threatening. Presentation is usually on day two of life when
the ductal closure leads to a marked reduction in mixing of the
desaturation and saturated blood. Cyanosis will be less severe and the
presentation delayed if there is more mixing of the blood for associated
abnormalities.
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Physical signs: Cyanosis is always present and the second heart sound is
often loud and single. There is usually no murmur but there can be a
systolic murmur from the increased flow or stenosis within the left
ventricular (pulmonary) outflow tract.

Investigations

Chest radiograph: This may reveal the classical findings of a narrow upper
mediastinum with an egg on side appearance of the cardiac shadow (due
to the anteroposterior relationship of the great vessels, narrow vascular
pedicle and hypertrophied right ventricle respectively). There will be
increased pulmonary vascular markings due to increased pulmonary blood
flow.

ECG: usually normal

Echocardiogram: will clearly demonstrate the abnormal connections.

2. Recognise the urgent need for atrial septostomy and later arterial
switch

In the sick neonate the key is to improve mixing. Maintain this patency of
the ductus arteriosus with a prostaglandin infusion is mandatory. A
balloon atrial septostomy may be a life-saving procedure which may need
to be performed in 20% of those with transposition of the great arteries.
A catheter, with an inflatable balloon tip, is passed through the umbilical
or femoral vein and then on through the right atrium and foramen ovale.
The balloon is inflated within the left atrium and then pulled back through
the atrial septum. This tears the atrial septum, renders the flap valve of
the foramen ovale incompetent, and so allows mixing of the systemic and
pulmonary venous blood within the atrium.

All patients with transposition of the great arteries will require surgery,
which is usually the arterial switch procedure in the neonatal period. In
this operation, performed in the first few days of life, the pulmonary
artery and aorta are transacted above the arterial valves and switched
over. In addition the coronary arteries have to be transferred across to
the new aorta.

VSD/ASD

1. List the key presenting features clinically, on ECG, CXR and echo

Discussed in acyanotic congenital heart disease section
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2. Outline the basic medical and surgical management

Discussed in acyanotic congenital heart disease section

Cardiac Disease and Association with other Syndrome

1. List the syndrome associations and cardiac disease e.g. Turners,
Noonans and Marfans syndrome

Turners syndrome is discussed in the Coarctation of the aorta section.

Noonans syndrome is a genetic syndrome with a wide range of potential
symptoms. The most common three are short stature, distinctive and
unusual facial features and congenital heart disease. The severity of these
can range from mild to life threatening. Unusual features include a broad
forehead, wider distance between eyes, drooped eyelids, low set ears
rotated backwards, a small jaw, short next with excess skin folds and a
lower than normal hairline at the back of the head.

With regards to congenital heart disease there may be one of the
following:

Pulmonary stenosis: the most common and affects around half of people
with Noonans. In many cases there will be no symptoms and hence no
treatment is required.

Hypertrophic cardiomyopathy: the second most common type and affects
10-20% of children. Here the heart muscles are much larger than they
should be and this puts strain on the heart and cause breathlessness. This
can cause heart failure in infancy but generally improves with age.

Septal defects: can be an ASD or VSD

Marfans syndrome is a hereditary condition that mostly affects connective
tissue. The symptoms vary from person to person and depend on which
area of the body is affected. It can affect blood vessels (causing damage
to the heart), the skeleton (causing long, thin limbs) and eyes (causing
lens dislocation).

Physical signs:

Skeleton: tall, slim, long thin arms and legs, loss and flexible joints, small
bottom jaw, high arched palate, deep-set eyes, flat feet, sternum
protrudes and crowded teeth.
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Scoliosis, spondylolisthesis and dural ectasia can all occur.

Eyes: short sighted, glaucoma, cataracts and detached retina

Cardiovascular System:

Aorta: The walls of the aorta are weakening in Marfans syndrome which
can cause the aorta to enlarge and bulge outwards as an aneurysm or it
can dissect and burst. This can cause fatal internal bleeding if not
immediately fixed.

Valves: The mitral and tricuspid valves can prolapse and not close
properly which leads to regurgitation.

Hypoplastic Left Heart

1. Basic understanding of how single ventricular CHD presents and is
managed

Hypoplastic left heart syndrome is a condition where there is complete
underdevelopment of the entire left side of the heart. The mitral valve is
small or atretic, the left ventricle is diminutive and there is usually aortic
atresia. There is almost invariably Coarctation of the aorta as well. For the
child to survive there must be an ASD to allow the returning blood to
leave the left atrium and re-circulate.

Clinical features

These children may be detected antenatally at ultrasound screening and
this allows for effective counselling which helps prevent the child
becoming sick after birth. If they do present after birth they are the
sickest of all neonates presenting with a duct dependent systemic
circulation. There is no flow through the left side of the heart so ductal
constriction leads to profound acidosis and rapid cardiovascular collapse.
There is weakness or absence of all peripheral pulses in contrast to weak
femoral pulses in Coarctation of the aorta.

Management

This consists of a difficult neonatal operation called the Norwood
procedure. This is followed by further operations at 6 months and again at
3 years.

Myocarditis
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1. Be aware of the causes and presenting features

Myocarditis is an uncommon disorder which is usually caused by a viral
infection that reaches the heart, when found in children. Such viruses
include influenza, coxsackie virus and adenovirus. However it can occur
after or during other viral or bacterial infections such as polio, rubella,
Lyme disease and others.

When infected the body tries to fight of the disease. If the infection enters
the heart then so will the immune cells. The resulting chemicals released
from both the immune cells and the disease can cause damage to the
heart. This causes the heart muscle to become swollen and thick and can
lead to heart failure.

Other causes of paediatric Myocarditis include allergies to certain
medication, exposure to certain chemicals, fungus, parasites, radiation,
and some drugs. Paediatric Myocarditis tends to be more severe in infants
and newborns than in children over 2 years old.

Symptoms

These can be mild at first and difficult to detect or can sometimes appear
suddenly. They include failure to thrive, anxiousness, feeding difficulties,
fever, heart failure, listlessness, low urine output and pale peripheries.
Symptoms in older children (>2) can include nausea, belly ache, chest
pain, cough, fatigue and swelling (legs, feet and face).

Investigations

This can be difficult to diagnose as symptoms tend to mimic other heart
and lung disorders. A rapid heartbeat might be heard or abnormal heart
sounds. It may also be possible to hear fluid at the lung bases due to
pulmonary oedema. Signs of infection may be present.

Chest radiograph: enlargement of the heard borders

Further tests: blood cultures, LFTs, U&Es, antibody screen, heart biopsy
and FBC.

The diagnosis is generally readily made of echocardiography.

Management

There is cure for Myocarditis so the aim of treatment is to minimise the
damage and treat symptoms until the condition resolves. Treating
symptoms with diuretics and ACE inhibitors and carvedilol (a B-
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adrenoceptor blocking agent) is important. Antibiotics, steroids, anti-
inflammatory drugs and IV immunoglobulin all have their role to play in
protecting the heart.

Rest is important to prevent the heart from being over strained.

SBE

1. Be aware of the risk factors, causes and management

Sub-acute bacterial endocarditis can occur in all children of any age with
congenital heart disease (except secundum ASD), including neonates. The
risk is highest when there is a turbulent jet of blood, as with a VSD,
Coarctation of the aorta and persistent ductus arteriosus or if prosthetic
material have been inserted during surgery. This can be difficult to
diagnose but should be suspected in any child with a sustained fever,
malaise, raised ESR and unexplained anaemia or haematuria. The
presence of the classical peripheral signs cannot be relied upon.

Clinical features

Fever, anaemia, pallor, splinter haemorrhages, clubbing (late), necrotic
skin lesions, changing cardiac signs, splenomegaly, neurological signs of
infarcts, retinal infarcts, arthritis/arthralgia and haematuria (microscopic).

Diagnosis

Multiple blood cultures should be taken before antibiotics are started.
Detailed cross-sectional echocardiography may confirm the diagnosis by
identification of vegetations but can never but used to exclude the
diagnosis. Acute phase reactants are raised and can be used to monitor
response to treatment. The most common causative organism is a-
haemolytic streptococcus (streptococcus viridians).

Management

SBE is usually treated with high dose penicillin in combination with an
aminoglycoside for 6 weeks using IV therapy. If there is infected
prosthetic material then there is less chance of complete eradication and
surgical removal may be required.

Prophylaxis is the most important factor against endocarditis and involves
good dental hygiene. Antibiotic prophylaxis is no longer recommended in
the UK.

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Gastroenterology

Breast and Formula Feeding

1. To be aware of the current NICE guidelines on infant feeding

The DOH and WHO recommend that breast feeding should be done
exclusively for the first 6 months of life. NICE guidelines recommend that
the first feed should ideally be given within the first hour after birth along
with baby to mother skin to skin contact. NICE guidelines also
recommend that skilled professional should be available to support breast
feeding and give appropriate counselling.

Currently only 78% of mother breast feed their child from birth but
infants are often weaned onto solids before 6 months. There are many
advantages to breast feeding including the ideal nutrition, life saving in
developing countries, reduces GI infection and necrotising enterocolitis,
enhances relationship and reduces the risk of insulin dependent diabetes,
hypertension and obesity later in life. There is also a reduction in breast
cancer risk in the mother.

The potential complications however are that an unknown quantity is
taken each time, there can be transmission of some diseases,
transmission of drugs and environmental contaminants, less flexible than
formula feeding, nutrient inadequacies and the risk of breast-milk
jaundice.

2. To be able to counsel parents on where to obtain advice/support with
relation to breast feeding

Within the first 24 hours a women should be given an information pack
about breast feedings, what to do and where to get help. There should
also be skilled support offered from the first feed, whether it be a
healthcare professional, mother-mother, or peer support. A womans
experience of breast feeding should be discussed at each contact to
establish if everything is going well and what concerns there may be. Help
will generally be available in hospital from the maternity nurses and
midwives followed by the health visitor whilst in the community. There
are also community nurses available for assistance, especially in those
first few days where correct breast feeding is so important to maintain the
supply of milk.

If weaning takes place before 6 months of age then wheat, eggs and fish
should be avoided, as should food high in salt, sugar, or with honey (risk
of botulism).

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3. To have a knowledge of specialist formulas and indications for their use
i.e. whole protein vs. semihydrolysed vs. hydrolysed feed

Formula feeding is based on cows milk. Unmodified cows milk is
unsuitable as it contains too much protein, electrolytes and inadequate
iron and vitamins.

Breast-feeding or formula feeding is recommended for 12 months (with
weaning after 6 months) and pasteurised cows milk may be given from 1
year of age but is deficient in vitamins A, C and D and in iron. Hence
supplementation will be needed unless the infant is having a good diet of
mixed solids. Alternatively follow on formula can be used. Children should
receive full fat milk up to the age of 5.

A specialised formula may be used for cows milk protein
allergy/intolerance, lactose intolerance, CF, neonatal cholestatic liver
disease or after intestinal resection. In normal cows milk based formula
the protein is from cows milk, the carbohydrate is lactose and the fat is
long-chain triglycerides. In a specialised formula the protein is hydrolysed
cows milk protein, amino acids or from soya, the carbohydrate is glucose
polymer and the fat is a combination of medium and long chain
triglycerides (medium chain are directly absorbed without the needed for
bile or pancreatic enzymes).

A soya formula should not be used below 6 months due to its high
aluminium contents and phytoestrogens.

Hydrolysed formulae what are they, who uses them, and what are their
roles?

Hydrolysed formulae contain cows milk in which the milk proteins and
lactose have been broken down and are easier to digest.
Formulae can be either partially or extensively hydrolysed.

Partial hydrolysates

Partial hydrolysates are characterised by a larger proportion of long
chains (peptides). They are considered more palatable than extensively
hydrolysed formulas. However, they are intended for prophylactic use - to
reduce the risk of cows milk allergy in formula fed babies where there is
a family history of allergy. Partially hydrolysed formulas are not suitable
for treatment of cows milk allergy/intolerance as there have been many
reports of adverse reactions to these products.

Constipation
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1. To be able to take a history to differentiate simple constipation from
motility disorders such as Hirschprungs disease

Constipation is common in children and can be due to a variety of
different reasons. It is generally defined as the infrequent passing of dry,
hardened faeces often accompanied by straining or pain. The normal
frequency in an infant is four times a day, two times a day at the age of
one and by four the child will have an adult pattern. The main concerns
that need to be considered in babies are Hirschprungs, hypothyroidism,
hypercalcaemia and anorectal abnormalities. Constipation may also be
simply due to dehydration or reduced fluid intake or an anal fissure
causing pain. In older children it may relate to problems with toilet
training, unpleasant toilets or stress.

Examination will often reveal a palpable abdominal mass in an otherwise
well child. DRE should only be done by a paediatric specialist and if there
is a justified reason to do so.

Constipation arising acutely in young children, e.g. after a febrile illness,
usually resolves spontaneously or with mild laxatives and extra fluid. In
longer standing constipation the rectum can become over distended and
there is a loss of the feeling to defecate which can lead to involuntary
soiling.

Red flag symptoms are as following:
Failure to pass meconium within first 24 hours of life
Hirschprungs
Failure to thrive/grown Hypothyroidism, celiac disease, other
Gross abdominal distension Hirschprungs or other GI dysmotility
Abnormal lower limb neurology lumbosacral pathology
Sacral dimple spinal bifida occulta
Bruising and fissures sexual abuse

Simple constipation can be differentiated from motility disorders by its
period of onset, age, how often it is occurring, is there a reasonable
explanation etc. Motility disorders are generally chronic and some will be
seen from birth.

2. To understand the management of simple constipation/stool
withholding

Firstly there should be encouragement and close supervision of the child.
Psychological support can be given if indicated. If faeces are not palpable
then give a balanced diet and sufficient fluids. In this case maintenance
mild laxatives can be used.
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If faeces are palpable then start the child on mild laxatives such as
polyethylene glycol (movicol). If the stools pass spontaneously then
maintain a balanced diet and fluids. If this does not resolve then move
the child on to stimulate laxatives (e.g. senna or picosulphate) +/-
osmotic laxatives (e.g. lactulose). Finally if this is still not successful then
consider an enema (+/- sedation) or manual evacuation under general
anaesthetic.

Faltering Growth

1. To be able to take a history to determine diagnosis in case of failure to
thrive

Failure to thrive basically means suboptimal weight gain in infants and
toddlers. Mild failure to thrive is a fall across two centiles and severe
across three centiles. Between week 6 and 1 year of age only 5% of
children will cross two lines and only 1% will cross three. Most children
with failure to thrive have weight below the 2
nd
centile. Many
measurements should be taken over a period of time to assess failure to
thrive as a one of measurement gives little information. Any child under
the 0.4
th
centile should be reviewed as a matter of urgency. It can often
be difficult to determine the difference between a child failing to thrive
and a child who is normally thin and small. However normally thin infants
should have no symptoms, be responsive, happy and have a normal
development.

Another phenomenon is catch down weight where a baby is born at a
normal weight and then drops down to their genetically determined
weight which is completely normal for them. More than a 10% weight
drop needs hospital assessment.

There are many different causes of failure to thrive and these can be
classified into organic and non-organic. Less than 5% of children with
failure to thrive are found to have an organic cause. 5-10% of children
with failure to thrive will be on the child protection register or be subject
to abuse or neglect. Traditionally non-organic failure to thrive is
associated with a broad spectrum of psychosocial and environmental
deprivation.

Causes

Non-organic: feeding problems, lack of food offered, irregular feeding
times, conflict over feeding, problems obtaining food, low socioeconomic
status, poor bond with child, depression of mother, poor maternal
education and finally abuse
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Organic: impaired suck/swallow (cleft palate or other dysfunction) and
chronic illness (Crohns disease, chronic renal failure, CF, liver disease
etc).

Inadequate retention: vomiting, severe gastro-oesophageal reflux

Malabsorption: Coeliac disease, CF, cows proteins intolerance, cholestatic
liver disease, short gut syndrome, NEC

Failure to utilise nutrients: Downs syndrome, IUGR, prematurity,
infection, metabolic disorders etc

Increase requirements: thyrotoxicosis, CF, malignancy, chronic infection,
congenital heart disease, chronic renal failure

Clinical features and investigations

Detailed history and food diary, symptoms (vomiting, diarrhoea),
prematurity, problems at home, illness etc

Examination should focus at looking for the signs of organic disease but
investigations that might be useful include FBC, U&Es, LFTs, TFTs, CRP,
urine and stool cultures and chest x-ray plus a sweat test. Serum ferritin
is also worth checking as, if this is low, there may be loss of appetite.

Management

Usually carried out in the community and consists of assessing eating
behaviours and providing support. Direct practical advice following
observation may be useful. Hospital admission is usually only necessary in
children under 6 months with severe failure to thrive and who require
active refeeding. This will also show if the child can gain weight when fed
appropriately.

Outcome

Children with non-organic failure to thrive continue to under eat and this
can cause a lasting deficit with these children remaining under weight. In
contrast the impairment in development is only short term.

2. To understand the management of simple constipation/stool
withholding

See above duplication of objective

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Gastroenteritis

1. To be aware of current NICE guidelines on management of
gastroenteritis

A brief background: In the UK around 10% of under 5 year olds annually
present with gastroenteritis to health services. The most common cause
in developed countries is rotavirus accounting for up to 60% of cases in
children <2.

Diagnosis

Suspect gastroenteritis if there is a sudden change to loose water stools
or onset of vomiting. If gastroenteritis is suspected then consider recent
contact with someone with acute diarrhoea and vomiting and exposure to
a known source of enteric infection and recent travel abroad.

Any one of the following may indicate a diagnosis other than
gastroenteritis: temperature >38 (if under 3 months) or >39 (over 3
months), SOB, tachypnoea, altered state of consciousness, neck stiffness,
bulging fontanelle, non-blanching rash, blood and/or mucus in stools,
bilious vomit, severe abdominal pain and abdominal distension/rebound
tenderness.

A stool sample should be taken if you suspect septicaemia, there is
blood/mucus in the stool or the child is immunocompromised. Consider
microbiology if there has been recent travel abroad, the diarrhoea has not
improved in 7 days and if the diagnosis is uncertain.

Assessing dehydration

The following are at risk of dehydration:
Children <1 but especially under 6 months
Infants who were of low birth weight
Children who have passed 6 or more diarrhoea stools in 24 h
Children who have vomited 3 or more times in 24 h
Children who have not be able to have fluids before presentation
Infants who have stopped breast feeding during illness
Children with signs of malnutrition

Suspect hypernatraemia if: jittery movements, increased muscle tone,
hyperreflexia, convulsions, drowsiness or coma.

Clinical assessment of dehydration

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Fluid management

Assess dehydration state then do one of the following:

No clinical dehydration continue breast feeding, encourage fluid
intake, discourage fruit juices and carbonates drinks, use oral
rehydration solution
Clinical dehydration give fluid deficit replacement (50ml/kg) over
4 hours as well as maintenance fluids. Give ORS often and in small
amounts. Continue breast feeding and consider supplementing ORS
with other fluids if a poor intake. If poor intake and vomiting then
consider NG tube
Shock give rapid infusion of 0.9% saline and repeat if necessary.
If remaining shocked consider intensive care.

If the shock improves or clinical dehydration deteriorates then IV therapy
for rehydration can be done.
Replace fluid deficit and give maintenance fluids. Fluid deficit is
100ml/kg if initially shocked or 50ml/kg if not shocked. Also give
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maintenance fluids (100ml/kg for first 10kg, then 50ml/kg for next
10 then 20ml/kg for remainder up to 2.5L)
Give 0.9% saline +/- 5% glucose and monitor electrolytes, urea,
creatinine and glucose.
Continue breast feeding if possible

After rehydration give full strength milk and reintroduce usual solid foods.
Avoid fruit juices and carbonated drinks and advise parents on good
hygiene for next few days plus not to return child to school until 48 hours
after last episode.

Antibiotics and antidiarrhoeals

Do not give antidiarrhoeals
Do not routinely give antibiotics
Give antibiotics when suspect septicaemia, bacterial infection,
salmonella, C.diff or if immunocompromised.
Seek advice about antibiotics if there has been recent travel abroad.

Infrequently, following an episode of gastroenteritis, the introduction of a
normal diet results in a return of watery diarrhoea. Temporary lactose
intolerance may have developed, which can be confirmed by the presence
of non-absorbed sugar in the stools giving a positive Clinitest result. In
such circumstances, a return to an oral rehydration solution for 24 hours,
followed by a further reintroduction of a normal diet, is usually successful.

Gastro-oesophageal Reflux

1. Understand the concept of gastro-oesophageal reflux and the
pathophysiology

Gastro-oesophageal reflux is the involuntary passage of gastric contents
into the oesophagus. It is extremely common in infancy and is caused by
the inappropriate relaxation of the lower oesophageal sphincter as a
result of functional immaturity. A predominantly fluid diet, a mainly
horizontal posture and a short intra-abdominal length of oesophagus all
contribute. This is very common in the first year of life but, by 12 months,
nearly all the symptoms will have spontaneously resolved. This is
probably due to a combination of maturation of the lower oesophageal
sphincter, assumption of an upright posture and more solids in the diet.

Most infants with gastro-oesophageal reflux have recurrent regurgitation
or vomiting but are putting on weight normally and are otherwise well.

Investigations

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Gastro-oesophageal reflux is usually diagnosed clinically and no
investigations are required. However investigations may be implicated if
the history is atypical, if complications are present or if there is failure to
respond to treatment. Investigations include:
24h oesophageal pH monitoring
24h impedance monitoring
Endoscopy with biopsies
Contrast studies help support a diagnosis but are neither sensitive
or specific

2. Outline non-medical, medical and surgical management strategies

Uncomplicated gastro-oesophageal reflux has an excellent prognosis and
can be managed by parental reassurance, adding inert thickening agents
to feeds and positioning in a 30 degree head-up prone position after
feeds.
More significant disease is managed with acid suppression with either a H
2

receptor antagonist (e.g. ranitidine) or proton pump inhibitor (e.g.
omeprazole). These drugs reduce the volume of gastric contents and treat
acid-related oesophagitis. There is little evidence for drugs that enhance
gastric emptying (e.g. domperidone) but these may still be tried. If the
child fails to respond to any of these then another diagnosis, such as
cows milk protein allergy, should be sought and further investigation
performed.
Surgical management is reserved for children with complications
unresponsive to intensive medical treatment or oesophageal strictures. A
Nissen fundoplication is where there fundus of the stomach is wrapped
around the intra-abdominal oesophagus and can be performed as an
abdominal or laparoscopic procedure.

3. Understand rare complications (SIDS, aspiration, Barretts oesophagus)

General complications:
Failure to thrive from severe vomiting
Oesophagitis haematemesis, discomfort on feeding, heartburn
and iron deficiency anaemia
Recurrent pulmonary aspiration pneumonia, cough, wheeze,
apnoea in preterm infants
Dystonic neck posturing (Sandifer syndrome)
Apparent life-threatening events (ALTE)

SIDS is a large topic and is covered in its own objective. It is associated
with gastro-oesophageal reflux.

Aspiration is a complication as mentioned above

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Barretts oesophagus is a condition that is very rare in children and
mostly seen in adults. It is where the lower oesophagus is repeatedly
damaged by acid and this leads to the cells changing from squamous to
columnar and can predispose to cancer. This condition is managed well
with acid suppressing drugs.

Jaundice

1. Understand the aetiology and pathogenesis of conjugated and
unconjugated jaundice

Unconjugated:
Breast milk jaundice
Infection
Haemolytic anaemia
Hypothyroidism
High gastrointestinal obstruction
Criger-Najjar syndrome

Conjugated:
Bile duct obstruction biliary atresia or choledochal cyst
Neonatal hepatitis syndrome CF, alpha 1 antitrypsin deficiency,
congenital infection, inborn error etc
Intrahepatic biliary hypoplasia

Overview of conjugation

The breakdown of haemoglobin and other haem proteins turns into
unconjugated bilirubin bound to albumin. If there is an excess of
unconjugated bilirubin that saturates the albumin then it is free to cross
the BBB and deposit itself in the basal ganglia, causing kernicterus. The
unconjugated bilirubin normally enters the liver and is conjugated before
being excreted in the bile. It is the conjugated bilirubin (water soluble)
that gives the urine and stools their dark colour. Reabsorption of bilirubin
from the gut is increased when milk intake is low.

Jaundice

Over 50% of all newborn infants become visibly jaundice and this is
because:
There is a marked physiological release of haemoglobin from the
breakdown of red cells because of the high Hb concentration at birth
The red cell life span of newborn infants (70 days) is shorter than in
adults (120 days)
Hepatic bilirubin metabolism is less efficient in the first few days of
life
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Kernicterus

This is the encephalopathy resulting from the deposition of unconjugated
bilirubin in the basal ganglia and brainstem nuclei. It usually occurs when
the level of bilirubin exceeds the albumin binding capacity in the blood. It
has a neurotoxic effect and its effects can vary in severity from a
transient disturbance to severe damage and death. Manifestations include
poor feeding and lethargy, irritability, increased muscle tone and an
arched back. Infants who survive may develop choreoathetoid cerebral
palsy, learning difficulties and sensorineural deafness.

Classified by age of onset

Jaundice <24 hours of age
Haemolytic disorders: rhesus haemolytic disease, ABO
incompatibility, spherocytosis and G6PD deficiency can all cause
this
Congenital infection: should include other abnormal signs such
as growth restriction, hepatosplenomegaly and thrombocytopenic
purpura

Jaundice at 2 days to 2 weeks of age
Physiological jaundice: normal for most infants
Breast milk jaundice: multifactorial causes but may involve an
increase in enterohepatic circulation (unconjugated). The most
common cause affecting up to 15% of healthy breast fed infants
and gradually disappears by 4-5 weeks
Dehydration: exacerbated if milk intake is poor from a delay in
establishing breast feeding. Sometimes IV fluids will be needed to
correct dehydration
Infection: an unconjugated hyperbilirubinaemia from poor fluid
intake, haemolysis and reduced hepatic function

Jaundice at >2 weeks of age

Jaundice in babies over 2 weeks (or 3 weeks in preterm) is called
persistent neonatal jaundice. It may be caused by biliary atresia
(conjugated) which is important to diagnose promptly as surgical
treatment is adversely affected by delay.
However most persistent neonatal jaundice is unconjugated and is due to
breast milk jaundice, infection or congenital hypothyroidism.

Conjugated hyperbilirubinaemia is suggested by the baby passing dark
urine and unpigmented pale stools. Hepatomegaly and poor weight gain
are other clinical signs that may be present.

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2. Be aware of RCPCH/NICE guidelines for investigation and management
of jaundice

Investigations

Inspection for jaundice: check the baby in a bright and ideally natural
light and examine the sclera, gums, and blanched skin. Do not rely on
visual appearance alone to estimate bilirubin levels.

If the baby is thought to have jaundice then they should be regularly
monitored and visually inspected. If there is visible jaundice then record
the serum bilirubin within 2 hours (if within the first 24 hours, otherwise
within 6 hours). If within the first 24 hours then continue to measure
every 6 hours whilst receiving treatment until the level is below the
threshold for treatment and is stable and falling.

To manage the hyperbilirubinaemia the infant can have phototherapy, be
treated with exchange transfusion or simply be monitored depending on
the situation and bilirubin levels.

Initially the bilirubin level should be measured using a transcutaneous
bilirubinometer and if this shows a level greater than 250 micromol/litre
then confirm this with a serum sample. If the baby is less than 24 hours
old or under 35 weeks gestation then just use serum.

Phototherapy

This is when a wavelength of light (450nm) is used to convert the
unconjugated bilirubin into a harmless water soluble pigment. It is
delivered by an overhead source and the child should be position supine
with maximal skin exposed. Their eyes should be protected from the
bright light.

The level of bilirubin dictates what form of treatment they get. If the level
of bilirubin is not extremely high then start on a single phototherapy dose
encouraging breaks, normal feeding and hydration. If the level drops and
is below the treatment threshold then stop, if it is not falling then move
onto continuous phototherapy. Here they should not be interrupted for
feeding but be given it IV/enteral and their hydration should be
monitored. If the level is falling then it can be stepped down to single
phototherapy but if not then continue. If there is no change then consider
other treatment.

Exchange transfusion

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This is used when the bilirubin levels are dangerously high. It involves
transfusing the child with donor blood up to twice its circulating volume
(so effectively exchanged twice). This aims to remove the bilirubin but
does carry some morbidity and mortality risk. Rarely done.

During this the continuous phototherapy should be continued. The child
should then have its bilirubin checked again and if too high then start the
exchange. The levels should then be checked within two hours of the
exchange and treated accordingly.

3. Understand the importance of stool colour in assessing a child with
jaundice

Stool colour is obtained from conjugated bilirubin. If the stools are very
pale then this indicates a lack of conjugated bilirubin. This is most likely
due to a biliary tree or post hepatic obstruction and hence helps to locate
the problem.

4. Be aware of biliary atresia and know the features within history
examination and investigation findings that would point you towards this
diagnosis

Biliary atresia occurs in 1 in 14,000 live births. It is a progressive disease
in which there is a destruction or absence of the extra hepatic biliary tree
and intrahepatic biliary ducts. This leads to chronic liver failure and death
unless surgical intervention is performed. Babies with biliary atresia have
a normal birth weight but fail to thrive as the disease progresses. They
are usually mildly jaundices and following the meconium they pass pale
stool and dark urine. Hepatomegaly is often present and splenomegaly
will soon develop secondary to portal hypertension. Other signs will
include bruising and failure to thrive.

Standard LFTs are of little value in the differential diagnosis. A fasting
abdominal ultrasound may demonstrate a contracted or absent
gallbladder, though it may be normal. A radioisotope scan with TIBIDA
shows good uptake by the liver, but no excretion into the bowel. Liver
biopsy will demonstrate features of extrahepatic biliary obstruction,
although features may overlap with those of neonatal hepatitis, especially
in the early stages of disease. The diagnosis is confirmed at laparotomy
by operative cholangiography which fails to outline a normal biliary tree.

Treatment is surgical and involves joining a loop of jejunum to the cut
surface of the porta hepatis. The longer that is left, the less chance of
achieving normal bile drainage.

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Coeliac Disease

1. Be aware of NICE guidelines for diagnosis and management of coeliac
disease

Coeliac disease is an Enteropathy in which a component of gluten
provokes a damaging immunological response in the proximal small
intestinal mucosa. The incidence of classical coeliac disease, diagnosed in
children on the basis of clinical symptoms, is around 1 in 3000 in Europe.
The classical presentation is of malabsorptive symptoms at 8-24 months
of age after the introduction of wheat containing products. There is failure
to thrive, abdominal distension, buttock wasting, abnormal stools and
general irritability. However children are now more likely to present in
later life with anaemia and non-specific gastrointestinal symptoms.

Signs and symptoms: chronic or intermittent diarrhoea, failure to thrive,
persistent or unexplained gastrointestinal symptoms including diarrhoea
and vomiting, prolonged fatigue, recurrent abdominal pains, sudden or
unexpected weight loss and unexplained iron deficient anaemia.

Conditions which increase the likelihood of coeliac disease include:
autoimmune thyroid disease, IBS, dermatitis herpetiformis, type 1 DM,
first degree relatives with coeliac disease, Downs syndrome and about 20
others

NICE guidelines are a bit complicated and involve a huge flowchart. The
general idea is:
If the person is on a gluten diet with the signs and symptoms then offer
serological testing. Also consider offering the test if the person has any of
the conditions above. The person should be advised that they need to eat
gluten in more than one meal every day for at least 6 weeks before
serological testing. They should not start a gluten free diet until diagnosis
is confirmed by intestinal biopsy. If the IgA test is negative then check for
IgA deficiency and maybe refer for biopsy or exclude diagnosis. If positive
then refer for a biopsy.

NICE hasnt mentioned management much but it is basically avoiding
gluten for life. If the disease presents before the age of two then a gluten
challenge can be given later in life to check if sensitivity remains. At the
start the serological markers will be negative and will become positive at
the end of the test period.

Colic

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1. Understand the concept of colic and sources of parental advice and
support

Colic is a common symptom complex which occurs during the first few
months of life. Paroxysmal, inconsolable crying or screaming often
accompanied by drawing up the knees and passage of excessive flatus
takes place several times a day, particularly in the evening. There is no
firm evidence that the cause is gastrointestinal, but this is often
suspected. The condition occurs in up to 40% of babies. It typically occurs
in the first few weeks of life and resolves by 4 months of age. The
condition is benign but it is very frustrating and worrying for parents and
may precipitate non-accidental injury in infants already at risk. Support
and reassurance should be given. Gripe water is often recommended but
is of unproven benefit. If severe and persistent, it may be due to a cows
milk protein allergy or gastro-oesophageal reflux and an empirical 2-week
trial of a whey hydrolysates formula followed by a trial of anti-reflux
treatment may be considered.

The NHS recommends going to the GP if you are worried so advice should
be given there. There is also the health visitor, family and friends. There
is also a group called CRY-SIS which can give support to mothers who
find their babies always crying. Support is also available online on the
birth to five section of the NHS website.

Cows Milk Protein Enteropathy

1. Understand the suggestive features in history and recommended
management of infant with cows milk protein intolerance

Cows milk protein allergy is an immune response that can be reproduced
and is most likely IgE mediated. Cows milk protein intolerance is not
immune mediated and is said to be undefined because an immune
component is not clearly identifiable. Sensitivity and allergy are said to be
the most common allergy seen in infancy with incidence around 1.8-
7.5%.

These children can present with a variety of clinical features, most
commonly including cutaneous reactions (urticaria, atopic dermatitis,
angioedema and contact rashes), GI reactions (nausea, vomiting, colic,
diarrhoea, colitis, constipation and transient enteropathies) and
respiratory reactions (asthma, wheezing, rhinoconjunctivitis, laryngeal
oedema, otitis media and anaphylaxis).

A history of atopic disease in the family is more common with children
affected by this allergy.

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There is also a latency associated with ingestion and symptoms. Those
who have an immediate reaction are more likely to develop rashes and
respiratory problems, GI symptoms are more likely after a few hours and
a cough or wheeze after 24 hours.

Management

If breast feeding then eliminate cows milk protein in the diet and take
calcium supplements instead (avoid eggs). If there is no improvement
then consider other options, if there is an improvement then try
reintroduction and go from there. If there is a suspicion of a severe
allergy then refer to special services. If formula fed then the process is
similar and involves changing the formula to an amino acid formula.

Testing clinically will involve a skin prick test with CMP and a blood test
for total IgE and specific IgE for CMP.

Crohns Disease/Ulcerative Colitis

1. Be aware of presenting features

Crohns disease generally presents with lethargy and ill health, not
necessarily with GI symptoms (particularly in older children). Symptoms
may be mistake for psychological problems or anorexia nervosa. Other
presenting features may include growth failure, puberty delay, abdominal
pain, diarrhoea, weight loss and fever.

Ulcerative colitis usually presents with rectal bleeding, diarrhoea and
colicky pain. Weight loss and growth failure may occur although this is
less frequent than in Crohns disease.

2. Understand the difference in pathology and clinical signs/symptoms of
Crohns and UC

Crohns disease is a transmural, focal and subacute or chronic
inflammatory disease most commonly affecting the distal ileum and
proximal colon (but can affect anywhere from mouth to anus). There is
initially inflamed and thickened bowel which subsequently forms strictures
as well as fistulae between adjacent bowel loops. Symptoms are listed
above but addition signs include oral lesions, perianal skin tags, uveitis,
arthralgia, erythema nodosum and iron deficient anaemia. Diagnosis is
based on endoscopic and histological findings on biopsy. The histological
hallmark is the presence of non-caseating epithelioid cell granulomata.
Small bowel imaging may reveal narrowing, fissuring, mucosal
irregularities and bowel wall thickening.
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Ulcerative colitis is a recurrent, inflammatory and ulcerating disease
involving the mucosa of the colon. The symptoms are listed above but
other signs include erythema nodosum and arthritis. The diagnosis is
made on endoscopy and on the histological features after exclusion of
infective causes of colitis. There is confluent colitis extending from the
rectum proximally for a variable length. In contrast to adults, who have
colitis usually confined to the distal colon, 90% of children have
pancolitis. Histology shows mucosal inflammation, crypt damage and
ulceration.

3. Be aware of extra systemic manifestations

Crohns disease: oral lesions, perianal skin tags, uveitis, arthralgia,
erythema nodosum, growth failure, clubbing and osteoporosis

UC: aphthous ulcers, uveitis, episcleritis, seronegative arthritis,
ankylosing spondylitis, erythema nodosum, DVT and clubbing

4. Be aware of main treatment options

Crohns disease is primarily treated with nutritional therapy (where the
normal diet is replaced by whole protein modular feeds for 6-8 weeks).
This is effective in 75% of cases. Systemic steroids may be required if this
is ineffective. Relapse is common and immunosuppressant medication
(azathioprine, mercaptopurine and methotrexate) may be required to
maintain remission. Anti-tumour necrosis factor agents (infliximab or
adalimumab) may be needed when conventional treatments have failed.
Long term supplemental enteral nutrition (often by overnight
NG/gastrostomy feeding) may be helpful in correcting growth failure.
Surgery may be needed to treat the complications of Crohns disease such
as obstruction, fistulae, abscess formation or severe localised disease
unresponsive to medication. In general the long term prognosis for
Crohns disease beginning in childhood is good and most patients lead
normal lives, despite occasional relapse.

Ulcerative colitis can be treated with aminosalicylates in mild disease
(balsalazide and mesalazine) to induce remission and for maintenance.
Disease confined to the rectum and sigmoid colon may be managed with
topical steroids but more extensive disease will require systemic steroids
for acute exacerbations and immunomodulatory therapy (azathioprine) to
maintain remission (sometimes in combination with a low dose systemic
steroid). Severe fulminating disease is a medical emergency and requires
treatment with IV fluids and steroids. If this fails to induce remission the
ciclosporin may be used. A colectomy with an ileostomy or ileorectal
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pouch is undertaken for severe fulminating disease which may be
complicated by a toxic megacolon, or for chronic poorly controlled
disease. There is also an increased incidence of adenocarcinomas of the
colon in adults so regular screening is started 10 years after diagnosis.

Encopresis and Soiling

1. Be aware of features of history that differentiate soiling due to
constipation and overflow and functional encopresis

Encopresis can be classified by DSM as with constipation and overflow or
without. There definitions are unclear but I will take functional encopresis
to be a more psychological condition rather than physiological although
most sources of information considerably overlap these.

The cause of encopresis is not found in about 90% of cases and is defined
as a child over 4, who was previously toilet trained, passing stools into
their underwear. These cases are due to functional constipation that has
no known cause. The constipation can result from anything but starts a
vicious cycle when the stools are retained by the child to prevent pain,
but in the colon they lose more water so will be even more painful. This
cycle leads to the distension of the colon and loss of sensation to defecate
but also distends the rectal sphincter and stools can be forced out if there
is overloading. Around the faeces may also be soft stools due to overflow
encopresis (where the colon is completely full so stools force their way
out).

Functional encopresis on the other hand (this may be completely wrong)
is a rare form and is thought to be more psychological in nature. This
includes things such as never being toilet trained, a toilet phobia,
manipulative soiling or IBS.

2. Be aware of sources of support for children and families with soiling
and encopresis

Depending on the cause the GP will usually be the first person to see. A
large proportion of these children will end up seeing paediatric
gastroenterologists. There is also psychological and parental help in
training the child and parent to reward good behaviour. There is also a
wide variety of online information and even encopresis support groups for
mothers.

Food intolerance

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1. Understand how to take a history to elicit symptoms of and risk factors
for food intolerance

A food allergy occurs when a pathological immune response is mounted
against a specific food protein. It is usually IgE mediated but may not be.
A non-immunological hypersensitivity reaction to a specific food is called
food intolerance. Food allergy is usually primary which means a tolerance
has never been developed. Presentation will vary with age but in infants
the most common foods to cause a problem are milk, eggs and peanuts
and in older children peanuts, tree nuts, fish and shellfish. Food allergy
can also be secondary where children initially are tolerant to a food and
later become allergic to it. A secondary food allergy can be due to cross
reactivity between proteins (particularly in fruit and nuts).

IgE mediated food allergies have a history of allergic symptoms varying
from urticaria to facial swelling to anaphylaxis, usually occurring within
10-15 minutes after ingestion of food. It is often the first occasion the
food is knowingly ingested. Non-IgE mediated food allergy usually
presents with GI symptoms after many hours and these include
diarrhoea, vomiting, abdominal pain and sometimes failure to thrive. Colic
or eczema may also be present and it sometimes presents with blood in
the stools in the first few weeks of life.

Food intolerance is incredibly common and its diagnosis is usually based
on the period of onset between ingestion and symptoms as well as
detailed tests. However these allergies can often be very difficult to
pinpoint. Food allergy on the other hand affects around 6% of children
and its time to onset is much quicker. These allergies generally have a
family history and are easier to diagnose.

Diagnosis usually involves a skin-prick test and measurement of specific
IgE antibodies in the blood. If indicated an intestinal biopsy may be
obtained to support a diagnosis. The gold standard test is a double
blinded placebo controlled food challenge.

2. Understand difference between type 1 and type 2 reactions and their
management

A type 1 reaction is usually instant and is where the body suffers notable
itching, swelling, hives and breathing difficulties. Whilst most of these
reactions are mild, some can be more serious and result in an
anaphylactic shock.

A type 2 reaction is not immediate which makes them difficult to detect.
Different foods breakdown at different rates so a reaction can be
anywhere from 24-72 hours after ingestion.
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The management of type 1 and type 2 reactions is to avoid the food in
question. This can be difficult but all EU packaging legally should be
labelled if foods contain common allergens. The advice of a paediatric
dietitian is essential to aid parents avoidance of foods whilst avoiding
nutritional deficits. In addition the child and family need the ability to
manage an allergic attack so a written self management plan and training
are essential. Drug management for mild attacks (no cardiorespiratory
symptoms) is with oral antihistamines whilst a severe reaction may
require epinephrine (adrenaline) given IM with an auto-injector (e.g.
Epipen or Anapen). Food allergy to cows milk and eggs often resolves in
early childhood whilst allergies to nuts and seafood usually persist
through to adulthood.

Functional Abdominal Pain

1. Understand history, examination and investigation findings that would
point to diagnosis of functional abdominal pain

Recurrent abdominal pain (RAP) is a common childhood problem and it is
often defined as pain sufficient to interrupt normal activities and lasts for
at least 3 months. It occurs in about 10% of school aged children and a
cause is only identified in <10%. The pain is characteristically
periumbilical and the children are otherwise well. This may be a
manifestation of stress, or it may become part of a vicious cycle of
anxiety with escalating pain leading to family distress and demands for
increasingly invasive investigations. There is also evidence that anxiety
may lead to altered bowel motility, which may be perceived by the child
as pain.
It is recognised that many of these children will have one of three distinct
symptom constellations resulting from functional abnormalities of gut
motility or enteral neurons: IBS (most common), abdominal migraine or
functional dyspepsia.

Management

The aim here is to find any serious cause without subjecting the child to
unnecessary investigations whilst reassuring the parents and child. A full
examination should include inspecting the perineum for anal fissures and
assessing a childs growth. A urine microscopy and culture is mandatory
as urinary tract infections may cause pain in the absence of other
symptoms or signs. An abdominal ultrasound is particularly useful is
excluding gall stones and pelviureteric junction obstruction. Most organic
causes are rare so further investigations should be performed only if
clinically indicated.
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It is important to make the distinction between serious and dangerous to
the parents. These disorders can be serious if, for example, they lead to
substantial loss of schooling, but they are not dangerous. The long term
prognosis is that about rapidly recover, take some months to
recover and continue or return in adulthood as a migraine, IBS or
functional dyspepsia.

Abdominal migraine

This is abdominal pain associated with headaches and in some children
the abdominal pain predominates. The abdominal pain is midline and
associated with vomiting and facial pallor. There is usually a personal or
family history of migraine.

Irritable bowel syndrome

This is a disorder, also common in adults, that is associated with altered
gastrointestinal motility and an abnormal sensation of intra-abdominal
events. Symptoms may occur following a gastrointestinal infection and
pressure studies have shown abnormally large bowel wall contractions.
Studies have also shown that the bowel wall has increased sensitivity to
pain during these attacks. Therefore it is thought that these two factors
interplay with psychosocial factors such as stress and anxiety. There is
often a family history and symptoms include:
Abdominal pain, often worse before or relieved by defecation
Explosive, loose or mucousy stools
Bloating
Feeling of incomplete defecation
Constipation (often alternating with normal or loose stools)

Functional dyspepsia

As well as having symptoms of peptic ulceration (but normal mucosa on
GI endoscopy), children with functional dyspepsia have rather more non-
specific symptoms, including early satiety, bloating and postprandial
vomiting and may have delayed gastric emptying as a result of gastric
dysmotility. Treatment is difficult but some children respond to a
hypoallergenic diet.

2. Understand the role of multidisciplinary team in its management

Doctor: diagnose, investigate treat etc
Nurses: provide reassurance, advice, monitor
Dietician: help with weight gain, nutrition
Psychiatrist: depends on the problem but may have a role

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Gastritis

1. Understand the symptoms, signs and aetiologies

Usually H.pylori doesnt cause a problem in children however, if left
untreated, it can cause gastritis, a peptic ulcer and stomach cancer in
later life. Most H.pylori infections are silent and produce no symptoms.
However when they do cause symptoms they are of gastritis or peptic
ulcer disease. Symptoms of gastritis in children may include nausea,
vomiting and frequent complaints about abdominal pain. However these
complaints can be seen in many other childhood illnesses. Peptic ulcers
can occur in older children and signs include a gnawing/burning feeling in
the abdomen, usually in the area below the ribs and above the navel. This
pain is often reduced by eating food, drinking milk or taking antacid
medication. The ulcers can also bleed causing haematemesis or melena.
Other general symptoms include indigestion, bloating, hiccups and loss of
appetite.

The prevalence in developing countries is high at around 3-10% of the
population each year compared with about 0.5% in developed countries.

There are also other causes of gastritis which include pernicious anaemia,
infections and bile reflux.

2. Be aware of role of helicobacter pylori

H.pylori is thought to be the cause of most cases of gastritis as well as
duodenal and peptic ulcers. It can be readily identified on a urease breath
test (
13
C). Stool antigens may be positive in infected children too but
serological testing is unreliable in children. Children with suspected
H.pylori should have PPIs given and, if proven, then a course of
amoxicillin and metronidazole or clarithromycin.

3. Be aware of lifestyle factors (e.g. alcohol/smoking)

I assume these are aimed at older children. They include:
Eat smaller and more frequent meals
Avoid irritant foods (acidic, spicy, fried)
Drink alcohol in moderation
Avoid NSAIDs
Manage stress
Reduce smoking

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Hirschprungs Disease

1. Understand aetiology, presenting features and management options

Hirschprungs disease affects around 1 in 5000 births and affects boys 4
times as often as girls. About 30% have a genetic history of the disease
and it is thought that Hirschprungs may be associated with other
conditions include Downs syndrome, multiple endocrine neoplasia,
malrotation and gastric diverticulum.

Hirschprungs disease is the absence of ganglion cells from the myenteric
and submucosal plexuses of part of the large bowel which results in a
narrow and contracted segment. The abnormal bowel extends from the
rectum for a variable distance proximally, ending in a normally innervated
dilated colon. In 75% of cases the lesion is confined to the rectosigmoid
but in 10% then entire colon is involved. Presentation is generally in the
neonatal period with intestinal obstruction heralded by failure to pass
meconium within the first 24 hours of life. Abdominal distension and later
bile-stained vomit develop. On rectal examination there may be a
narrowed segment and withdrawal of the examining finger often releases
a gush of liquid stool and flatus. In older infants and children this presents
as chronic constipation that is resistant to conventional treatments. They
may rarely have overflow or constipation incontinence and often suffer
from early satiety and abdominal discomfort leading to poor nutrition and
poor weight gain.

Management

Diagnosis can be confirmed by demonstrating the absence of ganglionic
cells, in that area of colon, together with the presence of large
acetylcholinesterase-positive nerve trunks on a suction rectal biopsy.
Anorectal manometry or barium studies may be useful in giving the
surgeon an idea of the length of aganglionic segment but are unreliable
for diagnostic purposes.

Treatment is surgical and usually involves an initial colostomy followed by
anastomosing normally innervated bowel to the anus.

2. Be aware of serious/life threatening complications (enterocolitis) and
presenting features

Occasionally infants present with life-threatening Hirschsprung
enterocolitis (inflammation of the colon and small intestines) during the
first few weeks of life, sometimes due to C.diff infection. The mortality
here is 25-30% which is almost all the mortality from Hirschsprung
disease. It presents with abdominal pain, fever, foul smelling and/or
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bloody diarrhoea as well as vomiting and can lead to sepsis, transmural
intestinal necrosis and perforation. Broad spectrum IV antibiotics and
fluids should be administered immediately and the patient monitored
closely.

Malabsorption

1. Understand what is meant by the term malabsorption

Malabsorption is fairly self explanatory but is a disorder that affects the
digestion or absorption of nutrients and manifests as abnormal stools,
failure to thrive (or poor growth) and specific nutrient deficiencies either
singly or in combination.

In general parents know when the childs stools have become abnormal,
with the true malabsorption stool being difficult to flush and having a very
strong odour. In general colour is a poor guide to abnormality. A dietician
assessment is vital as the child may simply have poor calorific intake
rather than a malabsorption syndrome and hence investigations would be
inappropriate here. Some disorders affecting the small intestinal mucosa
or pancreas may lead to malabsorption of many nutrients (pan-
malabsorption), whereas others are highly specific e.g. Zinc
malabsorption in acrodermatitis enteropathica.

2. Be able to take a history/undertake examination to determine
differential diagnosis in case of suspected malabsorption

Probably the commonest malabsorption syndrome is coeliac disease which
has been discussed in detail previously.

Food allergy or intolerance can also be a cause as previously described.

Other causes include:
Cholestatic liver disease or biliary atresia bile salts no longer enter
the duodenum in the bile. This leads to defective solubilisation of
the products of triglyceride hydrolysis. Fat and fat-soluble
malabsorption result.
Lymphatic leakage or obstruction chylomicrons (containing
absorbed lipids) are unable to reach the thoracic duct and the
systemic circulation, e.g. intestinal lymphangiectasia (abnormal
lymphatics).
Short bowel syndrome small-intestinal resection, due to
congenital abnormalities or necrotising enterocolitis, leads to
nutrient, water and electrolyte malabsorption
Page | 142

Loss of terminal ileal function e.g. resection or Crohns disease.
Absent bile acid and vitamin B
12
absorption
Exocrine pancreatic dysfunction e.g. CF Absent lipase, protease
and amylase lead to defective digestion of triglyceride, protein and
starch (pan-nutrient malabsorption).
Small-intestinal mucosal disease Loss of absorptive surface area
e.g. coeliac disease. Specific enzyme defects e.g. lactase deficiency
following gastroenteritis is common in Black and Oriental races.
Specific transporter defects e.g. glucose-galactose malabsorption
and acrodermatitis enteropathica.

3. Be aware of first line investigations

Review by a dietician is mentioned

Stool samples check for pH (carbohydrate malabsorption), bile acids,
large proteins, parasites and other infections

Urinalysis the kidney shares many of the same transporters as the gut
so may show high concentrations of certain substances here. There may
also be evidence of infection

Depending on what condition is suspected there are a whole host of
investigations. The common ones are blood tests and endoscopy or biopsy
of the intestine. See the specific conditions for more detail on their
management.

Malnutrition

1. Understand what is meant by this term

Malnutrition is common worldwide and is directly or indirectly responsible
for a third of all deaths in children under 5. Specific nutritional
deficiencies, particularly iron, remain common in developed countries.
Malnutrition occurs in 20-40% of children in specialist hospitals and
particularly at risk are those with chronic illness e.g. preterm, congenital
heart disease, malignant disease, IBD, chronic renal failure, cerebral palsy
or chronic GI conditions. Malnutrition in older children may result from
eating disorders.

Assessment is divided into past and present dietary intake,
anthropometry and laboratory assessments.

Dietary assessment is important and parents are asked to record the food
the child eats during several days. This gives a good guide to food intake.
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In addition to weight and height measurements, the skin fold thickness of
the triceps reflects subcutaneous fat stores. This can however be difficult
to measure in young children so mid-upper arm circumference (which is
related to skeletal muscle mass) can be measured easily and repeatedly.
Mid-upper arm circumference is also independent of age in children 6
months to 6 years. It is especially useful for screening children in the
community.

Laboratory investigations are useful to detect early physiological
adaptations to malnutrition, but clinical history, examination and
anthropometry are of greater value than any single biochemical or
immunological measurement.

The consequences of malnutrition can be severe as it is a multisystem
disorder. When severe the immunity is impaired, wound healing is
delayed and operative morbidity and mortality increased. Malnutrition
worsens the outcome of illness and malnourished children are less active,
less exploratory and more apathetic. Prolonged and profound malnutrition
can cause permanent delay in intellectual development.

Nutritional support

Enteral nutrition used when the digestive tract is functioning, as it
maintains gut function and is safe. Feeds are given nasogastrically, by
gastrostomy or occasionally via a feeding tube in the jejunum. Feeds are
often given continuously overnight, allowing the child to feed normally in
the day. If long term supplemental nutrition is needed then a gastrostomy
is preferred to avoid the discomfort of repeatedly changing NG tubes.

Parenteral nutrition can be used exclusively or as an adjunct to enteral
feeds to maintain and/or enhance nutrition. The aim here is to provide a
nutritionally complete feed in an appropriate volume of IV fluid. However
this is a complex and expensive therapy that requires a lot of professional
input. Short term it can be given by a peripherally situated cannulae but
long term a central venous catheter is needed. Complications include
those of vascular access, sepsis and liver disease from the parenteral
nutrition.

2. Understand importance of nutrition scoring (MUST tool and paediatric
equivalents)

The MUST tool (Malnutrition universal screening tool) is a five step tool to
identify ADULTS who are malnourished, at risk of malnourishment or are
obese. It also includes management guidelines that can be used to
develop a care plan. There are five steps to the MUST tool which are:
Step 1: Measure height and weight to get a BMI score
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Step 2: Note percentage unplanned weight loss and score using
table provided
Step 3: establish acute disease effect and score
Step 4: add scores from steps 1, 2 and 3 together to obtain an
overall risk of malnutrition.
Step 5: use management guidelines and/or local policy to develop a
care plan

Using a score, such as this, to assess nutrition is vital in all patients to
help indicate those that are risk. It has also been shown to be a good
indicator of mortality so can be used to indicate where interventions are
needed.

A similar score called the Paediatric Yorkhill Malnutrition Score is available
for use on children. It is based on BMI, weight loss, reduced dietary
intake and the risk of the childs nutrition being affected by admission.

3. Understand the concept and presenting features of protein/energy
malnutrition (Kwashiorkor)

Globally over 1/3 of childhood deaths are attributable to under nutrition,
which leaves the child susceptible and unable to survive common
infections. The WHO recommends that nutritional status is expressed as:
Weight for height a measure of wasting and an index of acute
malnutrition. Severe malnutrition is weight for height 3 standard
deviations below the median plotted on the WHO standard growth
chart. This corresponds to a weight for height <70% below the
median.
Mid upper-arm circumference (MUAC) - <115mm is severe
malnutrition
Height for age a measure of stunting and an index of chronic
malnutrition.

Severe protein-energy malnutrition in children usually leads to one of two
conditions:
Marasmus children have a weight for height <70% of normal and
have a wasted, wizened appearance. Oedema is not present. Skin
fold thickness and mid-arm circumference are markedly reduced
and affected children are withdrawn and apathetic.
Kwashiorkor another manifestation of severe protein malnutrition
and is where there is generalised oedema as well as severe wasting.
Because of the oedema, the weight may not be as severely
reduced. In addition there may be a flaky-paint skin rash with
hyperkeratosis and desquamation, a distended abdomen and
enlarged liver, angular stomatitis, hair which is sparse and
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depigmented, diarrhoea, hypothermia, bradycardia and hypotension
and a low plasma albumin, potassium, glucose and magnesium.

Kwashiorkor is more common in societies where children are not weaned
off breast milk until 12 months and then move on to a diet relatively high
in starch. It often develops after an acute inter-current infection such as
measles or gastroenteritis.

Mesenteric Adenitis

1. Understand the concept and differential diagnosis

Mesenteric adenitis means inflamed lymph glands in the abdomen which
cause abdominal pain. It is not usually serious and gets better without
treatment. Mesenteric adenitis is a fairly common cause of abdominal pain
in children aged less than 16 years but is less common in adults. It is
probably caused by an infection which is much more likely to be viral,
although a bacterial infection can also be a cause. The following are
typical symptoms:
Pain in the abdomen usually centrally or in the right iliac fossa.
Fever and generally unwell
Nausea and/or diarrhoea
Sore throat or symptoms of a cold before the pain started

Diagnosis is usually clinically and by ruling out anything else that might
be causing the pain. It is difficult to prove as the glands are deep in the
abdomen and cannot be palpated. If the doctor is unsure then a period of
observation (a few hours) may be suggested.

The main two differentials are ectopic pregnancy (obviously only in older
girls) and appendicitis. To rules these out a series of blood tests, a
pregnancy test and a PR may be required. Occasionally surgery may be
required to investigate (a laparotomy usually).

No treatment is required for mesenteric adenitis and it should go by itself.
It is also much less common with age so attacks will become less
frequent.

Overfeeding

1. Know recommended intake for infants 0-3 months, 3-6 months and 6-
12 months

The nourishment a child requires per unit body size is greatest in infancy
because of their rapid growth during this period. At 4 months of age 30%
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of an infants energy intake is used for growth but by 1 year of age this
has fallen to 5%. The risk of growth failure from restricted energy intake
is therefore greater in the first 6 months of life than in later childhood.

Age Energy (kcal/kg/24h) Protein (g/kg/24h)
0-6 months 115 2.2
6-12 months 95 2.0

2. Recognise symptoms and signs of overfeeding

Couldnt find a huge amount of information here but the following are a
few ideas:
GI reflux is increased in overfeeding
Obesity
Lactose overload cramps, gas, crying, watery bowel motions

Toddler Diarrhoea

1. Understand the age range and clinical features

This condition is also called chronic non-specific diarrhoea and is the
commonest cause of persistent loose stools in preschool children.
Characteristically the stools are varying in consistency, sometimes well
formed and sometimes explosive and loose. The presence of undigested
vegetables in the stools is common and they are often more pale and
smelly than usual. Affected children are well and thriving and there are no
precipitating dietary factors.

Toddler diarrhoea probably results from an underlying maturational delay
in intestinal motility which leads to intestinal hurry. The loose stools are
not due to malabsorption. Most children have grown out of their
symptoms by 5 years of age but achieving faecal continence may be
significantly delayed.

Some relief of symptoms can be achieved by ensuring that the childs diet
contains adequate fat (which slows gut transit) and fibre. Excessive
consumption of fresh fruit juice, particularly those high in non-absorbable
sorbitol, can exacerbate symptoms. It is also important to maintain the
childs hydration during these episodes.

2. Offer reassurance from more serious forms of diarrhoea

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Other more serious forms of diarrhoea include coeliac disease,
gastroenteritis, lactose intolerance, following bowel surgery and with
malabsorption.

All these conditions have symptoms associated with them and the child is
usually noticeably unwell or failing to thrive. With toddlers diarrhoea there
is intermittent bouts that seem to not be associated with anything in
particular (unlike the introduction of wheat in Coeliacs). Investigations
are not usually needed as this is extremely common.

Parasites

1. Be aware of these as a differential diagnosis especially with travels
abroad

Children are particularly vulnerable to picking up parasites due to poor
hygiene and frequently being on the floor. Worms are probably the most
common in children (threadworm enterobius vermicularis). These are
white and look like white thread. These worms do not usually cause
symptoms but can cause itching around the anus and vagina (in females).
This itching is particularly noticeable at night and can disturb sleep. It is
estimated that up to 40% of children under 10 have been infected by this
worm which lives in the intestine. To clear this infection it is necessary to
treat the whole household with good hygiene and medication
(mebendazole or piperazine).

Giardia lamblia is an important cause of persistent diarrhoea and
malabsorption. It occurs worldwide but is more common with poor
sanitation, reduced immunity and in endemic areas. The transmission is
faecal-orally and the main source of ingestion is contaminated water.
Symptoms include travellers diarrhoea lasting >10days and with
associated weight loss. There may be failure to thrive, nausea, abdominal
pain and anorexia. There are generally few signs besides malnutrition and
dehydration. The main investigation is stool microscopy.

Crytosporidium is a parasite that usually affects children and is
particularly common in children with AIDS. This causes diarrhoea through
the hosts response to the organism but primarily through malabsorption.
Contamination is from animals but particularly from live stock and petting
zoos. It can also be transferred from infected individuals such as at
nursery, or through food or water. It presents with a low grade fever,
general malaise and sudden onset watery diarrhoea. Symptoms on
average last two weeks but can go on for months. A relapse of symptoms
indicates a persistent infection.

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Ulcers

1. Be aware of the causes and treatment

Duodenal ulcers can also occur in children as well as adults are commonly
caused by H.pylori infection. Certain medications can also contribute to
ulcers such as NSAIDS. Most of this detail has been previously mentioned
when discussing gastritis.

Viral Hepatitis

1. Be aware of the aetiology and presenting features

The clinical features of viral hepatitis include nausea, vomiting, abdominal
pain, lethargy and jaundice; however 30-50% of children do not develop
jaundice. A large tender liver is common and 30% will have
splenomegaly. The liver transaminases are usually markedly elevated.
Coagulation is usually normal.

Hepatitis A

This is an RNA virus that is spread by faecal-oral transmission. The
incidence in childhood has fallen as socioeconomic conditions have
improved. Many adults are not immune so vaccination may be needed for
travellers going to endemic areas.
The disease can be asymptomatic but the majority of children have a mild
illness and recover both clinically and biochemically within 2-4 weeks.
Some may develop prolonged cholestatic hepatitis or fulminant hepatitis.
Chronic liver disease does not occur. The diagnosis can be confirmed be
detecting IgM antibodies to the virus.
There is no treatment and no evidence that bed rest or a change of diet is
effective. Close contacts need prophylaxis with human normal
immunoglobulin (HNIG) or vaccination within 2 weeks of the onset of
illness.

Hepatitis B

This is a DNA virus which is an important cause of acute and chronic liver
disease worldwide, with high prevalence and carrier rates in the Far East,
Sub-Saharan Africa and parts of North and South America. HBV is
transmitted by perinatal transmission, transfusion of infected blood,
needlestick injury, renal dialysis and horizontal family spread. It can also
be transmitted sexually in adults.
Infants who contract HBV prenatally are asymptomatic but at least 90%
become chronic carriers. Older children who contract HBV may be
asymptomatic or have classical features of acute hepatitis. The majority
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will resolve spontaneously but 1-2% develop fulminant hepatic failure
whilst 5-10% become chronic carriers. The diagnosis is made by detecting
HBV antigens and antibodies. IgM antibodies to the core antigen (anti-
HBc) are positive in acute infection. Positivity to hepatitis B surface
antigen (HBsAg) denotes ongoing infectivity. There is no treatment.

Chronic hepatitis B of the infants infected by vertical transmission
approximately 30-50% will develop chronic HBV liver disease which may
progress to cirrhosis in 10%. There is also a long term risk of
hepatocellular carcinoma. Current treatment regimens have poor efficacy.
Prevention is most important and involves screening all pregnant women
antenatally for HBsAg. All babies of positive mothers should have a
hepatitis B vaccination with hepatitis B immunoglobulin also being given if
the mother is hepatitis B e antigen positive. Antibody response to the
vaccination should be checked in high risk infants and 5% will require a
further dose. Other members of the family should also be vaccinated.

Hepatitis C

This is an RNA virus that was responsible for 90% of post transfusion
hepatitis until the screening of donor blood in 1991. The prevalence is
high among IV drug users. Vertical transmission occurs in 6% of infected
mothers but is twice as common if there is co-infection with HIV and is
now the commonest cause of HCV transmission. It seldom causes an
acute infection but the majority become chronic carriers, with a 20-25%
lifetime risk of progression to cirrhosis or hepatocellular carcinoma.

Hepatitis D

Is a defective RNA virus that depends on hepatitis B virus for replication.
It occurs as a co-infection or as a superinfection causing an acute
exacerbation of chronic hepatitis. Cirrhosis develops in 50-70% of those
who develop it.

Hepatitis E

This is an RNA virus that is enterally transmitted, usually by contaminated
water. Epidemics occur in some developing countries.

Non-A to G Hepatitis

Clinical presentation is similar to hepatitis A. When a viral aetiology of
hepatitis is suspected but not identified it is known as non-A to G hepatitis

EBV

Page | 150

Children with EBV are usually asymptomatic. Some 40% have hepatitis
that may become fulminant. Less than 5% are jaundiced.

Acute Liver Failure

Symptoms: Jaundice, encephalopathy, coagulopathy, hypoglycaemia and
electrolyte disturbances, irritability, confusion, aggression.

Community Paediatrics and Psychiatry

Autism and Asperges

1. Outline the diagnostic criteria and assessment with awareness of key
professionals involved in management

Autism

Characteristic features that manifest within the first 3 years of life
include:
1) Impairment of social interaction poor eye contact, facial expressions,
failure to share and enjoy peer relationships
2) Impairment in communication poor spoken language, extreme
difficulty initiating and sustaining conversation, lack of imaginative play
3) Restricted, stereotyped interests and behaviours intense
preoccupation with interests such as dates, phone numbers, timetables
etc, inflexible adherence to routines and rituals, repetitive motor
movements such as clapping and an unusual interest in parts of hard or
moving objects.

Patients may also exhibit behavioural problems such as aggression,
impulsivity and self injurious behaviour. Although autistic children can be
of normal intelligence, 75% have significant mental retardation. Epilepsy
may develop in about 25-30% of cases.


Prevalence of autism is about 0.05% in the general population with a
male to female ratio of 3-5:1 but females are more seriously affected. The
exact cause has not been clarified but it is clear that genetic, prenatal,
perinatal and immunological factors are all implicated. Phenylketonuria,
tuberous sclerosis and congenital rubella are associated conditions. There
is no good evidence that the MMR vaccine results in autism.


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Prognosis is generally poor with only 1-2% achieving full independence
and 20-30% of patients achieving partial independence. The best
prognostic factors are an IQ above 70 and good language development by
the age of 5-7. Prognosis is also improved if the home environment is
supportive with good family education and support. The treatment
approach is similar to mental retardation.

Aspergers Syndrome

This is similar to autism in that there is an impairment of social
interaction coupled with restricted, stereotyped interests and behaviours.
However the difference is that there are no abnormalities in language
acquisition and ability or in cognition development and intelligence. This
syndrome is more common in boys and schizoid and anakastic personality
traits are common. This disorder is on the autistic spectrum.

Delay in Motor Skills

1. Students will be able to list, describe and examine the gross and fine
motor developmental milestones of children and describe how vision
impairment may affect these domains

Development is divided into four main sections:
Gross motor
Fine motor and vision
Hearing, speech and language
Social, emotional and behavioural
The acquisition of developmental abilities for each skill field is remarkable
constant between children but may vary in rate. The normal pattern of
acquisition is sequential, longitudinal (one step leads to the next) and
varies in rate. Developmental milestones can be divided into the median
age of achieving it and the limit age after which it is abnormal. Premature
children will obviously need their age adjusting (up to 2 years of age)
before classing development as abnormal.

Gross motor development

Age Skill
Newborn Limbs flexed, symmetrical posture
Newborn Marked head lag on pulling up
6-8 weeks Raised head to 45 degrees in prone
6-8 months Sits without support
8-9 months Crawling
10 months Cruises around furniture
12 months Walks unsteadily, broad gait, hands apart
15 months Walks steadily
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Limit ages for gross motor are:
Head control 4 months
Sit unsupported 9 months
Standing independently 12 months
Walks independently 18 months

Fine motor and vision

Age Skill
6 weeks Follows moving object or face by turning head
4 months Reaches out for toy
4-6 months Palmar grasp
7 months Transfers toy from one hand to another
10 months Mature pincer grip
16-18 months Makes marks with a crayon
14 months 4
years
Building of shapes (various patterns correspond to
different ages)
2-5 years Coping shapes without seeing how it is done (line
2 years to triangle at 5 years)

Limit ages for fine motor and vision are:
Fixes and follows visually 3 months
Reaches for objects 6 months
Transfers 9 months
Pincer grip 12 months

In addition to all of these it is vital that the primitive reflexes disappear as
postural reflexes develop. This is essential for independent sitting and
walking.

Visual impairment will have an obvious affect on the development of
motor skills. Although gross motor may only be mildly affected, the
obvious deficit will be in the fine motor skills where hand-eye coordination
is required.

Abnormal motor development

This can be a delayed acquisition of motor skills or as a problem with
balance, an abnormal gait, asymmetry of hand use, involuntary
movements or rarely a loss of motor skill. Concerns about motor
development usually present between 3 months and 2 years of age when
acquisition of motor skills is occurring most rapidly. Causes of abnormal
motor development include a central motor deficit such as cerebral palsy
(discussed in its own section), a congenital myopathy or primary muscle
disease, spinal cord lesions and global developmental delay.

Page | 153

2. Outline the neurological examination that will then guide a differential
diagnosis list

pGALS is the examination that would be used to assess motor skills in
children. It stands for paediatric gait, arms, legs and spine. It starts by
asking three screening questions:
Do you have an pain in your joints
Do you have an pain or trouble walking
Do you have an pain or problems dressing yourself
Once the screening questions have been asked the examination can
begin. Start by looking at the child (only wearing shorts for boys and
similar exposure for girls whilst preserving modesty) from the front, side
and back for any obvious wasting, deformity or other problems.

GAIT - Get the child to walk normally, on their heels and on their toes to
assess this.

ARMS Get the child to put their arms out and look at their hands (both
sides) for wasting or other deformities. Assess their pronation and
supination. Get them to screen their hands into a fist. Get them to touch
each finger to their thumb. Squeeze gently between their 2
nd
and 5
th

finger to check for pain. Get them to put their hands together and elbows
straight out. Do the same but with the back of the hands now touching.
Get the child to stretch their hands into the air and then put their head
back. Get the child to put their hands behind their head with elbows
pointing out. Get the child to put their head to either shoulder.

LEGS Get the child to lay down before assessing legs. Get the child to
bring each ankle, in turn, up to their bottom. Then pick up each leg and
check it form mobility. Check the knee for oedema and excess fluid using
two techniques (1 push down from above the knee to move fluid into
the knee, 2 push around the knee in a circle to check for fluid).

SPINE Get the child to stand and then reach for their toes.

Delay in Speech

1. Students will be able to list and describe communication problems

First it is best to describe what is normal. Speech is categorised into the
section with hearing and language.

Age Skill
Newborn Starts to loud noise
3-4 months Vocalises alone or when spoken to, coos and
laughs
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7 months Turns to soft sounds out of sight
7-10 months At 7 months uses sounds indiscriminately and
discriminately at 10 months
12 months Two or three words other than mama or dada
18 months 6-10 words, shows two parts of body
20-24 months Uses two or more words to make simple phrases
2 -3 years Talks constantly in 3-4 word sentences

Limit ages for speech are:
Polysyllabic babble 7 months
Consonant babble 10 months
Saying 6 words with meaning 18 months
Joins words 2 years
3-word sentences 2 years

A child may have a deficit in either receptive or expressive speech and
language, or both. The deficit may be a delay or a disorder. Speech and
language delay may be due to:
Hearing loss
Global developmental delay
Difficulty in speech production from an anatomical deficit (e.g. cleft
palate)
Environmental deprivation
Normal variant/familial pattern

Speech and language disorder may be due to:
Language comprehension
Language expression (inability to produce speech whilst knowing
what is needing to be said)
Phonation and speech production such as stammering, dysarthria or
verbal dyspraxia
Pragmatics (difference between sentence meaning and speakers
meaning), construction of sentences, semantics, grammar
Social/communication skills (autistic spectrum disorder)

Speech and language problems are usually first suspected by parents or
primary healthcare professionals. A hearing test and assessment by a
speech and language therapist are the initial steps. In early years there is
a considerable overlap between language and cognitive development.

Global Developmental Delay/Not Reaching Milestones

1. Be able to identify key delays in this domain when performing a
developmental assessment

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Global developmental delay implies a delay in acquisition of all skill fields
(gross motor, vision and fine motor, hearing and speech, and language
and cognition, social/emotional and behavioural). It usually becomes
apparent in the first 2 years of life. Global developmental delay is likely to
be associated with cognitive difficulties although these may only become
apparent several years later. When children become older and the clinical
picture is clearer, it is more appropriate to describe the individual
difficulties such as learning disability, motor disorder and communication
disorder.

For information of significant delays see above. Below is the remaining
section (social, emotional and behavioural development) that has not
been covered above.

Age Skill
6 weeks Smiles responsively
6-8 months Puts food in mouth
10-12 months Waves bye-bye, plays peek-a-boo
12 months Drinks from a cut with two hands
18 months Holds spoon and gets food to mouth
18-24 months Symbolic play
2 years Dry by day, pulls off some clothing
2 to 3 years Parallel play, takes turn, interactive play evolving

Limit ages for above area:
Smiles 8 weeks
Fear of strangers 10 months
Feeds self/spoon 18 months
Symbolic play 2 2 years
Interactive play 3 3 years

2. Create a differential diagnosis based on development history and
assessment

3. Plan the initial investigations of a child with developmental delay

NAI/Physical Abuse

1. Outline the history and examination involved in a child protection
assessment and list the categories of abuse

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Abuse and neglect can be categorised into physical abuse, emotional
abuse, sexual abuse, neglect and fabricated or induced illness (FII).

Physical abuse

Any form of intentional physical harm to the child. This will present as
fractures, bruises, burns and bites. This can often be difficult to
differentiate from a genuine condition or injury. Factors that indicate the
injury may have been intentional include the history given, the plausibility
of the explanation, any background of previous abuse, delay in reporting
the injury, inconsistent stories and an inappropriate reaction of the
parent(s) who is vague, evasive, unconcerned or excessively distressed or
aggressive.

Neglect

This is the persistent failure to meet a childs basic physical and/or
psychological needs, likely to result in the serious impairment of the
childs health or development. It may involve the failure to provide food,
clothing, shelter, protection, supervision or access to medical care. Think
about neglect when the child consistently misses medical appointments,
lacks glasses or immunisations, seems ravenously hungry, is dirty, is
wearing inadequate clothing, is abusing drugs/alcohol, says there is no-
one at home. Also consider neglect if the parent appears to be indifferent
to the child, seems apathetic or depressed, behaves irrationally or in a
bizarre manner and is abusing alcohol or drugs.

Emotional abuse

This is the persistent emotional mistreatment of a child resulting in severe
and persistent adverse effects on the childs emotional development. It
can involve conveying that the child is worthless or unloved. It can
features a predominantly developmentally unrealistic expectations being
imposed on the child. It may involve seeing or hearing the ill treatment of
another and may also involve serious bullying that causes the child to feel
frightened or in danger. This is the hardest type of abuse to identify. It is
important to consider is the child: the wrong gender, born at a time of
parental separation or violence, or seen as unduly difficult. There may
also be clues from the behaviour of the child depending on their age:
Babies apathetic, non-demanding, delayed development,
described by the mother as spoiled, attention seeking, in control or
not loving her.
Toddlers and preschool children violent, apathetic, fearful
School children wetting, soiling, relationship difficulties, non-
attendance, antisocial behaviour
Adolescents self-harm, depression, oppositional, aggressive and
delinquent behaviour,
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Being bullied is increasing recognised as an important form of emotional
abuse and every school should have a policy in place to deal with it.

Sexual abuse

This involves forcing the child to take part in sexual acts, including
prostitution. The activity may involve physical contact, including
penetrative acts such as rape, buggery or oral sex, and/or non-contact
activities involving children looking at or producing pornographic material
or watching sexual activities or encouraging children to behave in a sexual
inappropriate way. The child or young person may tell someone about the
abuse, be identified in porn, be pregnancy (under 13 years is always
sexual abuse), have an STI, have vaginal bleeding, itching, or discharge,
have rectal bleeding. They may also have behavioural symptoms including
soiling, secondary enuresis, self harm, aggressive or sexualised
behaviours, regression and poor school performance. Signs are hard to
detect and the genital regions heal quickly, destroying forensic evidence.
Examination should be by a specially trained doctor.

Fabricated or induced illness

Discussed later but a quick summary is that it is the mother in >80% of
cases. It can consist of verbal fabrication or the induction of illness
(suffocation, poisoning, excessive substances i.e. salt, excess medication
and the use of medically provided ports of entry i.e. stoma). Organic
illness can coexist with fabrication which makes things even more
difficult. Clues include frequent presentations that only occur in the
carers presence and are not substantiated by clinical findings.

2. Awareness of key professionals involved in its management

Police, doctors, specialist paediatric doctor in each hospital that has
responsibility for this, social workers, nurses and teachers are all
responsible.

ADHD

1. Outline the diagnostic criteria for ADHD and its management

Diagnosis and clinical features: usually has its onset before the age of 6-7
and is characterised by impaired attention or hyperactivity or impulsivity.
Impaired attention includes difficulty sustaining attention in work or
play, not listening when being spoken to and being highly
distractible.
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Hyperactivity includes restlessness, fidgeting, running and jumping
around in inappropriate situations, excess noisiness and difficulty
engaging in quiet activities. They also often interrupt others, cannot
wait their turn and may prematurely blurt out answers to questions.

It is important that these symptoms are evident in more than one
situation i.e. at school and at home, and should be present for at least 6
months. It is also important to distinguish ADHD from age appropriate
behaviour in young active children. Other aspects should be considered to
explain the behaviour such as is the child in a class above or below their
level of intellect and are there concurrent mental illnesses such as
depression.


The prevalence in the USA is 3-7% in school aged children compared to
only 1% in the UK, perhaps due to narrower diagnostic criteria. The male
to female ration is 3-9:1 and causes are not yet known, although genetic,
dietary and psychosocial factors as well as brain damage have all been
implicated.


Pharmacological: CNS stimulants such as methylphenidate (Ritalin)
and dexamphetamine have been shown to be highly effective in
of children, producing increased concentration and academic
efficiency. Antidepressants and some antipsychotics are second line.
Psychotherapy: behavioural modification and family education are
important. Permissive parents are not helpful in this situation.

Improvements usually occur with development and remission of
symptoms usually occuring between the ages of 12 and 20, although 15%
of patients have symptoms persisting into adulthood.
Unstable family dynamics and coexisting conduct disorder are associated
with a worse prognosis.

2. Awareness of key professionals involved and the management

Psychiatrist, teachers, parents, doctors, nurses and pharmacists.

Anorexia and Eating Disorders

1. Outline the diagnostic criteria for anorexia and eating disorders and its
management

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Anorexia nervosa and bulimia nervosa

The psychopathology in these two conditions takes the form of an
overvalued idea and is characterised by a dread of fatness resulting in
patients imposing a low target weight. This can be achieved through poor
calorific intake, self-induced vomiting, excessive exercise or the use of
drugs.

Anorexia: body weight maintained at least 15% below normal or a BMI
below 17.5kg/m
2
. There is also evidence of generalised endocrine
disturbances i.e. amenorrhoea in post-menarchal women, loss of sexual
interest, raised GH and cortisol, reduced T3. Pubertal events may be
delayed or arrested in certain age groups.

Bulimia: patients usually have a normal body weight. The characteristic
feature is a preoccupation with eating and an irresistible craving for food
that results in binge eating. This is associated with a feeling of lack of
control and inevitably feelings of shame and disgust. To counteract this
patients engage in purging (vomiting, laxatives and diuretic use), fasting
or excessive exercise. Russells sign (calluses on the back of hands when
the hand has been used to induce vomiting).

ICD-10 criteria for anorexia and bulimia nervosa
Anorexia: all of the following
Low body weight (BMI<17.5)
Self-induced weight loss
Overvalued idea
Endocrine disturbances (failure to make expected development if
prepubertal)

Bulimia: all of the following
Binge eating
Methods to counteract weight gain
Overvalued idea

Other symptoms and complications

Patients often complain of a low mood and anxiety. This may be
surrounding eating but can often be generalised. If these symptoms are
severe enough then they can be said to be co-morbid to the eating
disorder.

Complications: There are many, many complications related to starvation
and vomiting. Perhaps the one worth remembering is hypokalaemia with
repeated vomiting which can be life threatening. This should be treated
gradually and the patient should be encouraged to eat potassium rich
foods i.e. bananas.
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Differentials

Almost any medical condition may lead to weight loss so this should be
considered before considering anorexia or bulimia. Other important
conditions are depression, OCD, psychotic disorders, dementia and
alcohol or substance abuse.


Both conditions have a female to male ratio of 10:1. Bulimia (3-5%)
tends to be more common than anorexia (1%) with an incidence of 12.2
per 100,000 compared with 4.2 per 100,000. Anorexia tends to onset in
mid to late adolescence and bulimia onsets slightly later at late
adolescence to early adulthood. Social economic class is no longer
thought to play a large role.

No cause for either anorexia or bulimia has been identified also both
biological and psychosocial factors have been implicated.

Genetics: Twin studies have shown higher incidences in monozygotic
twins. First degree relatives also have a higher incidence of eating
disorders as well as mood disorders. Neurotransmitter levels are also
thought to play a part as serotonin is thought to suppress food
consumption and some anorectics have been shown to have increased
concentrations.

Environment: Western culture undoubtedly plays a big part in both
conditions. With anorexia it is also thought that families, who are
overprotective, over involved, avoid conflict and are resistant to change,
may be at risk. Other theories suggest that sexual maturity presents a
conflict to anorectics so they avoid menstruation to stop a change in body
shape. With bulimia it is clear that a past history of dieting increasing the
risk of developing bulimia eight fold. Perfectionism, low self-esteem,
alcohol abuse, substance abuse, personality disorders and depression are
all associated conditions.

Management

Anorexia: These patients are the hardest to treat due to their
ambivalence towards treatment coupled with the consequences of
starvation (poor concentration, lethargy, depression).
The first option is to educate patients about nutrition and
monitoring of weight (most useful in those who only diet
excessively). Their weight can be regularly monitored and self help
groups may be useful.
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The preferred treatment is some form of brief outpatient
psychotherapy with the encouragement of family involvement.
Some of these options are: psychoeducation about nutrition and
weight (advice, education motivation), nutritional management and
weight restoration (negotiate target weight, eating plans, teaching
shopping and cooking skills), CBT (20-24 session exploring issues of
self control, low self-esteem and perfectionism, IPT (improving
social functioning and interpersonal skills), family therapy (affective
if living with family and onset before 18) and psychodynamic
psychotherapy (reserved for specialists in eating disorders).
There should be a low threshold for referral to a specialised eating
disorder unit, especially with patients who are resistant to out-
patient treatment and who have severe anorexia or poor prognostic
factors (long duration of illness, late age of onset, very low weight,
associated bulimic symptoms, personality difficulties, poor family
relationship, poor social adjustment).
Hospitalisation may be considered with very low weights
(BMI<13.5), rapid weight loss, electrolyte abnormalities
(particularly sodium and potassium), and syncope. Occasionally it
may be necessary to treat patients against their will and includes
nasogastric or IV feeding.
The use of medication is limited and special care should be taken in
patients with a very low weight. SSRIs may be useful for treating
co-morbid depression and OCD. Fluoxetine may be helpful in
maintaining weight gain and preventing relapse.

Bulimia: patients with bulimia tend to be more motivated to improve and
are usually a healthy weight. Treatment is mostly psychological and
ranges from psychoeducation, self help groups and manuals in mild cases,
to CBT and IPL in more serious cases. TCAs and SSRIs (fluoxetine 60mg)
have been shown to reduce bingeing and purging behaviours but
psychotherapy remains the treatment of choice. Co-morbid substance
abuse and depression are common so should be managed.

Prognosis

Anorexia: up to 50% of patients recover and return to a normal weight,
eating and menstruating. 25% of patients go on to develop normal weight
bulimia. A third of all patients fail to recover and the mortality is over
10% (the highest of all psychiatric disorders). Half of these deaths are
due to complications of starvation and a third are due to suicide.

Bulimia: the course is also variable but generally better than anorexia
with 50-70% if patients making a recovery after 2-5 years. There is no
increase in mortality. Poor prognostic factors include severe bingeing and
purging behaviours, low weight and co-morbid depression.

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Enuresis

1. Describe the history, examination and management of enuresis

Enuresis can be either daytime or nocturnal.

Daytime enuresis

This is due to a lack of bladder control in the day in a child old enough to
be continent (over the age of 3-5). It may be caused by a lack of
attention to bladder sensation, with detrusor instability, bladder neck
weakness, a neuropathic bladder (associated with spinal bifida and is
where bladder is enlarged and fails to properly empty), a UTI,
constipation or an ectopic ureter (constant dribbling). Examination may
reveal a neuropathic bladder (distension) and there may be abnormal
perineal sensation and anal tone or abnormal leg reflexes and gait.
Sensory loss in the distribution S2, 3 and 4 should also be sought. Urine
should be examined by microscopy and cultured. An ultrasound may be
useful in showing incomplete emptying whilst urodynamic studies may
help demonstrate a thickened bladder neck (primarily with ultrasound).
Affected children in whom a neurological cause has been excluded may
benefit from star charts, bladder training and pelvic floor exercises.
Constipation should be treated and anticholinergic drugs may be helpful.

Secondary enuresis

This is the loss of previously achieved urinary continence and may be due
to emotional upset, a UTI and polyuria. Investigations should include
testing the urine for infection, glucose and protein, assessment of urinary
concentrating ability and ultrasound of the renal tract.

Nocturnal enuresis

I assume this is what the objective actually means. This is quite a
common problem with about 6% of 5 year olds and 3% of 10 year olds
not being dry at night. Boys outnumber girls 2 to 1. There is a genetically
determined delay in acquiring sphincter competence with two thirds of
children with enuresis having an affected first degree relative. There may
also be interference in learning to become dry at night. Young children
need reasonable freedom from stress and a measure of parental approval
in order to learn night time continence. Emotional stress can interfere
with this process and cause secondary enuresis. Organic causes here are
uncommon but include UTI, faecal retention enough to cause bladder
neck dysfunction, and polyuria due to diabetes or renal concentrating
disorders. A urine sample should always be tested for glucose, protein
and infection.
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The management for nocturnal enuresis is straight forward but
painstaking to succeed. After the age of 4, enuresis resolves
spontaneously in only 5% of children. In practice treatment is rarely
undertaken before 6 years of age. The first step is to explain to both the
child and parent that the problem is common and beyond conscious
control. The parents should stop punishing the child. Star charts can help
by encouraging the child for not wetting the bed. Alternatively an enuresis
alarm may be used to wake the child and prompt them to empty their
bladder. Desmopressin can provide short-term relief for holidays or
sleepovers as it is an analogue of antidiuretic hormone. Self help groups
are also available to provide support.

Learning Difficulties


Most healthcare professions, parents and teachers are involved.

2. List the common causes of learning difficulties either in isolation or as
part of global delay

Learning difficulties can be classified as mild (IQ 70-80), moderate (IQ
50-70), severe (IQ 35-50) and profound (IQ <35). Severe and profound
learning difficulties are usually apparent from infancy as marked
developmental delay whereas moderate learning difficulties emerge only
as a delay in speech and language. Mild learning difficulties may only
become apparent when the child starts school or even later.

Most children have an organic cause and these include:

Prenatal
Genetic Downs, fragile X, microcephaly, hydrocephalus
Vascular occlusions, haemorrhage
Metabolic hypothyroidism, Phenylketonuria
Teratogenic alcohol and drug abuse
Congenital infection rubella, cytomegalovirus, HIV, toxoplasmosis
Neurocutaneous syndromes tuberous sclerosis, neurofibromatosis

Perinatal
Extreme prematurity
Birth asphyxia
Metabolic symptomatic hypoglycaemia, hyperbilirubinaemia

Postnatal
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Infection meningitis, encephalitis
Anoxia near drowning, suffocation, seizures
Trauma head injury
Metabolic hypoglycaemia, inborn errors or metabolism
Vascular stroke

Neglect and Psychosocial Deprivation

1. Be aware of these as forms of child abuse and the impact they can
have on the child

Discussed above

Psychosocial deprivation can lead to a shortened height, underweight and
a delay in puberty. Children can catch up if placed in a nurturing
environment.

2. Awareness of key professionals involved in the care of such children

Discussed above

Psychological Problems of Chronic Illness

1. Be aware of the impact of chronic disease on growth, development and
psychological well being

Chronic illness is a relatively common cause of abnormal growth. These
children are usually short and underweight. Inadequate nutrition may be
due to insufficient food, restricted diet or poor appetite associated with
chronic illness, or from increased nutritional requirement for a raised
metabolic rate. Chronic illnesses which may present with short stature
include Coeliac disease, Crohns disease and chronic renal failure.

Psychologically the cognitive response can lie anywhere along the
spectrum of over-acceptance to denial, with fluctuation over time. In over
acceptance the child may allow the illness to overtake their life resulting
in more impairment than is expected for level of symptoms, and high
levels of anxiety about the slightest symptoms. With denial symptoms
and warning signs may be ignored and treatment poorly adhered to. The
emotional response to diagnosis and at times of relapse, may have
similarities to a bereavement reaction or reaction to loss, with shock,
denial, anger followed by acceptance and adjustment. The behavioural
response in young children tends to be a regression when stressed and
behaviour younger than they actually are. A toddler may become
Page | 165

overactive or clingy and display sleep and feeding difficulties. Finally the
somatic response can include expression of worry and distress through
bodily symptoms such as recurrent abdominal pain.

Children suffering from chronic illness are more susceptible to mental
health problems but this is related to the nature of the illness, the stage,
the age of the child, the temperament, intellectual capacity and family
factors.

2. Have an awareness of the impact in adolescence on compliance

Adherence in adolescents with a chronic disease is generally poor and
leads to greater complications and admissions.

School Refusal

1. Outline the characteristics for school refusal and its management

School refusal is an inability to attend school on account of overwhelming
anxiety. Such children may not complain of anxiety but of its physical
concomitants or the consequences of hyperventilation. Anxiety may
present as complaints of nausea, headache or otherwise not being well,
which are confined to weekday, term-time mornings, clearing up by
midday. It may be rational, as when the child is being bullied or there is
educational underachievement. If it is disproportionate to stresses at
school it is termed school refusal, an anxiety problem with two common
causes. The first is separation anxiety from parents persisting beyond the
toddler years and the second is anxiety provoked by some aspect of
school. These two can coexist.

School refusal based on separation anxiety is typical of children under the
age of 11 and can be provoked by an adverse life event such as illness,
family death or moving house. Treatment is aimed at gently promoting
increasing separations from the parents whilst arranging an early school
return. Some adolescents with school refusal have a depressive disorder
but more usually there is an interaction between an anxiety disorder and
long-standing personality issues such as intolerance of uncertainty.

Management is the following:
Advice and support parents and school about the condition
Treat any underlying emotional disorder
Plan and facilitate an early and graded return to school
Help the parents make it more rewarding for the child to go to
school than stay at home
Address bullying or educational difficulties if present
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Doctor, psychologist, teachers, parents etc

Tantrums, Behaviour Difficulties and Conduct Disorder

1. Outline the key aspects of history and management of tantrums,
behavioural difficulties and conduct disorder

Tantrums

Normal toddlers often go through a phase of refusing to comply with
parents demands, sometimes angrily. All this can demoralise and exhaust
parents. These are an ordinary response to frustration, especially not
being allowed to have or do something. They are common and normal in
young preschool children. To analyse a tantrum use the ABC approach
(Antecedents what happens in the minutes before, Behaviour what did
the episode consist of, and Consequences what happened as a result).
Next check for potential medical causes such as a global language delay,
hearing impairment and medication such as bronchodilators and
anticonvulsants.

The easiest course of action is to distract the child but if this cannot be
done then let the tantrum burn itself out by leaving the room and
returning a few minutes later. This should be done calmly without the
threat of abandonment. The parent should not give in. An alternative
method is using a time out by placing the child in an area where no-one
will speak to them (1 minute per year of life). Disobedience can be dealt
with by using a star chart and acknowledgement of good behaviour.

General steps:
Ensure your demands are reasonable
Tell the child what you want them to do rather than what you dont
Praise for compliance
Use positive instructions (if you do this then this will happen)
Avoid threats
Ignore minor episodes
Give affection and attention before the tantrum
Distraction
Avoid antecedents
Ignoring
Time out
Hold child firmly if they are being dangerous
Star charts
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Difficult behaviour

This covers a range of problems including aggressive behaviour and
antisocial behaviour. Generally the same rules that apply to tantrums
should apply here too.

Conduct Disorder

This occurs usually before the age of 18. It mostly affects boys by the age
of 10-12 and girls by 14-16. This disorder is characterised by the
repetitive and persistent pattern of aggression to people and animals,
destruction of property, deceitfulness or theft and major violations of age
appropriate societal expectation or rules e.g. truancy.
Aetiological factors include genetics, parental psychopathology, abuse,
neglect, education and socioeconomic status. It affects 5-15% of
adolescent boys and 2-10% of girls with a female to male ratio of 3-12:1
(I know the numbers dont make sense but thats what the psychiatry
book says). Many improve whilst some go on to develop an antisocial
personality disorder and substance related problems.
Management strategies include behavioural, cognitive, family and group
therapies. Opposition defiant disorder describes a pattern of defiant and
hostile behaviour that does not violate the law or basic rights of others.


Psychiatrist, teachers, police, parents etc

Chronic Fatigue Syndrome

1. Describe the diagnostic criteria and differential diagnosis for CFS/ME

This condition refers to persisting high levels of subjective fatigue, leading
to rapid exhaustion on minimal physical or mental exertion. The term is
broader and more neutral than the specific pathology or aetiology implied
by myalgic encephalopathy or post-viral fatigue syndrome, which follows
an apparently viral febrile illness. There is sometimes serological evidence
of recent infection with coxsackie B virus or EBV or a hepatitis virus.
Some cases have no history of evidence of a precipitating infection and
there are no specific diagnostic tests. The clinical picture is somewhat
diffuse and there are no pathognomonic symptoms. Myalgia, migratory
arthralgia, headache difficulty getting off to sleep, poor concentration and
irritability are virtually universal. Stomach pains, scalp tenderness, eye
pain and photophobia and tender cervical lymphadenopathy are
frequently encountered. Depressive symptoms are just as much of the
Page | 168

picture and there is continuing debate as to how much of the picture is
physical and how much is psychological. The majority of cases will remit
with time but this can take months or even years.

2. Outline the management strategies

Recommended treatment involved graded exercise therapy and/or
cognitive behavioural therapy. Graded exercise therapy is usually
provided by physiotherapists and aims to achieve gradual increase in
exercise tolerance. However if too much pressure is put on the child then
this can lead to tantrums or mute withdrawal. It is important to maintain
as much of a normal life as possible including school attendance. The
mood of depressed children can respond to antidepressant medication but
this is unlikely to alleviate the fatigability.

Dyspraxia

1. Describe the diagnostic criteria

This is also called developmental coordination disorder and is a disorder of
motor planning and/or execution with no significant findings on standard
neurological examination. It is a disorder of the higher cortical processes
and there may be associated problems of perception (how the child
interprets what he sees and hears), use of language and putting thoughts
together.
These difficulties can impact on educational progress and self-esteem and
suggest the child has greater academic difficulties than may actually be
the case. Features include problems with:
Handwriting awkward, messy, slow, irregular and poorly spaced
Dressing (buttons, laces, clothes)
Cutting up food
Poorly established laterality
Copying and drawing
Messy eating difficulty in coordinating biting, chewing and
swallowing.

Assessment and advice is primarily from an occupational therapist or,
when necessary, a speech and language therapist. Dyspraxia in its
mildest form often goes undetected during the first years of life as the
child achieves gross motor milestones at the normal times. With therapy
and maturity the condition should improve.

Depression

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1. Recognise the features of depression and the at risk groups in children

Depression is heavily covered in the psychiatry guide but it is a clinical
condition that is more than just sadness. It extends to motivation,
judgement, the ability to experience pleasure and provokes emotions of
guilt and despair. It may disturb sleep, appetite and weight. It leads to
social withdrawal an important sign. It can occasionally affect prepubertal
children. It is generally comparable to depression in adults but there are
differences:
More common than adults apathy, boredom, separation anxiety,
decline in school performance, social withdrawal, hypochondriacal
ideas, irritable mood, antisocial behaviour
Less common than adults loss of appetite and weight, loss of
sleep, libido, slowing of thought and movement, delusional ideas
A diagnosis of depression depends critically on interviewing the child on
their own. Treatment depends upon severity. With mild depression it can
be managed in primary care and many will recover spontaneously, hence
a period of watchful waiting for 4 weeks may be appropriate. Alternatively
non-directive support therapy can be offered or guided self-help. If mild
depression does not respond to these in 2-3 months then the child should
be referred to a specialist. All children with moderate or severe
depression should be referred. In a specialist setting they may offer CBT,
IPT, and family therapy. If psychotherapy is insufficient after 6 weeks
then an SSRI (fluoxetine) should be considered. If suicidal then admission
may be needed.

Fabricated Illness

1. Have an awareness of this in paediatric medicine and the differential
diagnosis

Discussed with the types of neglect above

Psychosis

1. Define psychosis and key questions that help discriminate it when
obtaining a history

Again psychosis is covered in much greater detail in the psychiatry guide.

Psychosis is a breakdown in the perception and understanding of reality
and a lack of awareness that the person is unwell. This can affect ideas
and beliefs, resulting in a delusional thinking where abnormal beliefs are
help with an unshakable quality and lead to odd behaviour. The
connectedness and coherence of thoughts may break down so that
Page | 170

speech is hard to follow, leading to thought disorder. Perceptual
abnormalities lead to hallucinations, where a perception is experienced in
the absence of a stimulus. The psychotic disorders include:
Schizophrenia no specific medical cause is found and there is
generally no major disturbance of mood other than flattening of
affect
Bipolar affective disorder where psychosis is associated with
lowered mood as in depression or elevated as in mania
Organic psychosis occurs in delirium, substance induced disorders
and dementia.

Both schizophrenia and bipolar are rare before puberty but increase in
frequency during adolescence. Investigations should include a urine dip
drug screen, exclusion of medications-induced psychosis, exclusion of
medical causes and dementia. When psychosis is suspected there should
be urgent referral to the psychiatrist for a comprehensive assessment and
treatment with antipsychotics, psycho-education, family therapy and
individual therapy. If an organic cause then this needs treating promptly.

Self Harm and Drug Abuse

1. Describe the methods of self harm in adolescence and outline
strategies in eliciting an accurate history which incorporates their
emotional health

Covered in the psychiatry guide but the paediatric guide recommends
using the PATHOS tool.
P Have you had problems for longer than a month?
A Were you alone in the house at the time?
T Did you plan the overdose for longer than three hours?
HO Are you feeling hopeless about the future?
S Were you feeling sad for most of the time before the overdose?

Score 1 for yes and 0 for no. Child is a high risk of >2.

2. Awareness of the categories of recreational illicit drugs

Class A ecstasy, LSD, heroin, morphine, cocaine and methadone
Class B amphetamine, cannabis and dihydrocodeine
Class C GHB, temazepam, valium, temgesic, ketamine

Sexual Abuse

1. Be aware of the presenting features and risk factors
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Discussed in the neglect section above

Sleep Disorders

1. Outline the different types of psychological sleep disorder in childhood
and briefly describe their management

Difficulty in settling to sleep at bedtime

This is a common problem in the toddler years. The child will not go to
sleep unless the parent is present. Most instances are normal expressions
of separation anxiety, but there may be other obvious reasons for it which
can be explored in taking a history. These include:
Too much sleep in the afternoon
Displaced sleep wake cycle (sleeping in late due to disturbed sleep)
Separation anxiety
Overstimulation in the evening
Kept awake by sibling, noisy neighbours of TV
Erratic parental practices (no bedtime routine, sudden removal from
play to bed)
Use of bedroom as punishment
Dislike of darkness and silence
Some chronic physical conditions
Many cases will respond to simple advice including creating a bedtime
routine which cues the child to what is required and telling the child to lie
quietly in bed until he/she falls asleep. If this does not work then a more
active intervention is needed. This involves the parents imposing a graded
pattern of lengthening periods between tucking their child up in bed and
coming back after a few minutes to visit, but leaving the room before the
child falls asleep, even if they are protesting. The object is to provide the
opportunity for the child to learn how to fall asleep alone, a skill not yet
developed.

Waking at night

This is normal but some children cry because they cannot settle
themselves bad to sleep without their parents presence. This is often
associated with difficulty settling in the evening which should be
addressed first. The graded approach described above can also be used in
the middle of the night but parents may find it helpful to take alternative
nights so to share the burden.

Nightmares

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These are bad dreams which can be recalled by the child. They rarely
require medical attention unless frequent or stereotyped in content
indicating a morbid preoccupation or symptoms of a psychiatric disorder
such as PTSD.

Night (sleep) terrors

These are different from nightmares and occur about 1.5 hours after
settling. The parent finds the child sitting up in bed with eyes open,
seemingly awake but obviously disorientated, confused and distressed
and unresponsive to their questions and reassurances. The child then
settles to sleep after a few minutes and has no recollection the next
morning. Sleepwalking has similar origins to this condition and parents
need simple reassurance. The most important intervention is to make the
environment safe if they are sleep-walking. A common cause is an erratic
sleep schedule so a sleep routine may be helpful in preventing recurrence

Stammer and Speech Impediment

1. Discriminate between a stammer and speech impediment

Stammer/stutter

A stammer or stutter is a speech disorder in which the flow of speech is
disrupted by involuntary repetitions and prolongations of sounds (mostly
vowels), syllables, words or phrases and involuntary silent pauses or
blocks in which the stutterer is unable to produce sound. For many
stutterers repetition is the primary problem and blocks and prolongations
are learned mechanisms to mask repetition as the fear of repetitive
speaking in public is often the main cause of psychological unease. Many
young children go through this stage between the ages of 2 and 5. In
many cases the stutter will go by the age of 5 but it can last longer.

There are a variety of factors that are thought to contribute towards this
condition:
Genetics: about 60% of those who stutter have a close family
member who stutters
Other speech and language problems or developmental delays
Differences in the brains processing of language
Interruption and competition with siblings

Speech impediment

A speech impediment is a type of communication disorder where normal
speech is disrupted. This can mean stuttering, lisps or being completely
unable to speak. These conditions can be classified as:
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Stuttering
Lisping protruding the tongue between the front teeth while
producing s and z sounds.
Muteness
Articulation disorders
Voice disorders
Dysarthria
This can be caused for a number of reasons including congenital health
conditions such as poor hearing and a cleft palate. Other causes are birth
defects that affect the muscles and bones of the face, as well as the
digestive system and larynx. Many of these can be remedied by
appropriate speech and language therapy.

Surgery

Acute Abdomen

1. Know the common causes in different age groups

The differential diagnosis of acute abdominal pain in children is extremely
wide, encompassing non-specific abdominal pain, surgical causes, and
medical conditions. In nearly half of the children admitted the pain will
resolve undiagnosed. In young children it is essential not to delay the
diagnosis and treatment of acute appendicitis, as progression to
perforation can be rapid. It is easy to belittle the clinical signs of
abdominal tenderness in young children. Of the surgical causes,
appendicitis is by far the most common.

Causes of acute abdominal pain can be intra-abdominal (surgical and
medical) and extra-abdominal.
Surgical causes include:
Acute appendicitis second decade of life
Intestinal obstruction + intussusception 3 months to 2 years
Inguinal hernia
Peritonitis
Inflamed Meckels diverticulum 2-8 years
Trauma
Pancreatitis
Medical causes include:
Gastroenteritis usually under 5 years
UTI, pyelonephritis, renal calculus
HSP
DKA
Hepatitis
IBD
Constipation any age
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Gynaecological problems
Extra-abdominal causes:
URTI
Lower lobe pneumonia
Torsion of the testis
Hip and spine

2. Perform a clinical examination and plan initial investigations

The abdomen must be palpated and the testes, hernia orifices and hip
joints must always be checked. It is noteworthy that lower lobe
pneumonia may cause pain referred to the abdomen, primary peritonitis
is seen in patients with ascities from nephrotic symptoms or liver disease,
DKA may cause severe abdominal pain and a UTI (including
pyelonephritis) is a relatively uncommon cause of acute abdominal pain.

Inspection: anaemia, jaundice, distension, bruising around umbilicus or
flanks, dehydration

Auscultation: bowel sounds, bruits

Percussion: ascites, bowel gas, tenderness, shifting dullness, fluid thrill,
size of mass

Palpation: masses, tenderness, guarding, organomegaly, rebound
tenderness, hernia, scrotum, lymph nodes

Others: PR, pelvis, lower pulses, other systems

Investigations will vary depending on what is suspected. However the
initial investigations will include:
Urine dip
Pregnancy test (maybe)
Bloods U&Es, FBC, LFTs, glucose, calcium
Group and save
Urinalysis
ECG
O
2
saturation
Radiology

3. Outline the principles of resuscitation in patients with shock

Regardless of the cause the primary assessment should be ABC. The
patients airway should be open or secured and high flow oxygen at 100%
should be used. If in respiratory distress consider intubation and
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mechanical ventilation. The patient will need appropriate non-invasive
monitoring and blood glucose should be taken at the bedside.

Consider the volumes lost from the vascular compartment and
cardiovascular signs after a 25% loss (2% of body weight). If in shock
then give 20ml/kg isotonic fluid over 5 minutes and reassess. The fluid
may be pushed through if needed. If 2-3 volumes are given then the child
is at risk of bleeding and packed cells should be given.

Dextrose administration is often necessary since children have relatively
low glycogen stores which become rapidly depleted during shock. If the
bedside glucose check is low then give 0.5-1g/kg IV dextrose, ideally as a
continuous infusion.

Drugs such as vasopressors and cardiac inotropic agents may also be
needed. If sepsis is a concern then give broad spectrum antibiotic cover.

Appendicitis

1. Describe the clinical features and differential diagnosis

Acute appendicitis is the commonest cause of abdominal pain in childhood
requiring surgical intervention. Although it may occur at any age, it is
very uncommon in children under 3 years old and is most common in the
second decade of life. The clinical features are:
Symptoms
Anorexia
Vomiting (usually only a few times) or diarrhoea (not significant
amounts)
Abdominal pain initially central and colicky but then localising to
the RIF
Signs
Flushed face with oral fetor
Low-grade fever 37.2-38 degrees
Abdominal pain aggravated by movement e.g. on walking,
coughing, jumping or bumps on the road in a car journey
Persistent tenderness with guarding in the RIF (McBurneys point)
Rebound tenderness
Obturator sign internal rotation of a flexed right thigh will give
pain if there is an inflammatory mass overlying the obturator space
(pelvic appendicitis)

In preschool children the diagnosis is particularly difficult. Faecoliths are
more common and can be seen on an abdominal x-ray. Perforation can be
rapid in this age group as the omentum is less well developed and fails to
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surround the appendix. Finally the signs are easy to underestimate at this
age.

Acute onset of pain is not typical of acute appendicitis but is seen with
acute ischaemic conditions such as volvulus or intussusception. An ill
appearing quiet child who is lying very still in bed, perhaps with the legs
flexed, is much more of a concern than an active, happy child.

The list of differentials is huge and includes ovarian cysts, PID,
pregnancy, mesenteric adenitis and Volvulus. However the key conditions
that need to be excluded are:
Gastroenteritis discussed below but there should not be confusion
here
Constipation
PID
Volvulus
Hirschprungs disease
Intussusception

2. Be aware of the common pitfalls: atypical presentation diarrhoea,
tender RIF, tender RIF, abnormal urine dipstick possible incorrect
diagnosis of UTI

The common pitfalls described here are gastroenteritis and kidney
pathology. Gastroenteritis should not be confused with appendicitis. With
gastroenteritis the patient should have nausea, vomiting and diarrhoea.
Also the vomiting will most likely precede the pain in gastroenteritis but
not in appendicitis.

The second pitfall is diagnosing a UTI. A neutrophilia is not always present
on a full blood count but white blood cells or organisms in the urine are
not uncommon. This is because the inflamed appendix may be adjacent to
the ureter or bladder. Here an ultrasound will help differentiate the two
problems.

Also worth mentioning is a retrocaecal appendix (15%) in which localised
guarding may be absent and instead will localise to the psoas muscle. In
other patients the tip of the appendix is deep to the pelvis and the signs
and symptoms localise to the rectum or bladder (suprapubic).

3. Understand some of the late presentation cases, appendicular mass
and their management

The two main late presenting cases are an appendicular mass and an
appendicular abscess.
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An appendicular mass is a complication of appendicitis and is where the
omentum and small bowel adhere to the appendix. This usually presents
with a fever and a palpable mass. Initial treatment is usually conservative
with fluids, analgesia and antibiotics but urgent surgical intervention may
be required if the mass enlarges or the patients condition deteriorates.
Recovery following conservative treatment is usually by appendectomy.

An appendicular abscess can be shown by ultrasound or CT scan and the
initial treatment is by percutaneous or open drainage but open drainage
also enables appendectomy. A worsening CRP with a good history is a
sure signal of rupture and abscess formation.

Inguinal Hernia

1. Describe the clinical features and differences from hydrocele

Inguinal hernias are almost exclusively seen in boys. Normally the
inguinoscrotal descent of the testis is preceded by some peritoneum. This
peritoneal extension (processus vaginalis) normally obliterates after birth
but the failure of this process may lead to the development of an inguinal
hernia or hydrocele.

The inguinal hernia in children is almost always indirect and is due to this
patent processus vaginalis. There are much more frequent in boys and
are particularly common in premature infants. Hernias are more common
on the right side and at least 1 in 50 boys will develop one. They usually
present as an intermittent swelling in the groin or scrotum on crying or
straining. Unless observed the diagnosis relies on a history and the
palpation of a thickened spermatic cord (or round ligament in girls). The
groin swelling may become visible on raising the childs intra-abdominal
pressure.

The hernia may also present as an irreducible lump in the groin or
scrotum. The lump will be firm and tender and the infant may be unwell
with irritability and vomiting. Most irreducible hernias can be reduced
after opioid analgesia and sustained gentle compression. If reduction is
impossible then there becomes the risk of strangulation of bowel and
damage to the testis. A hernia associated with an undescended testis
should be operated on early to minimise risks to the testis.

A hydrocele will be described later but is the same principle as a hernia
but the tract is much smaller and only allows peritoneal fluid to
accumulate.

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Inguinal hernias can also present in girls with the ovaries being
incarcerated in the hernia sac. Rarely androgen insensitivity syndrome
can present as a hernia in a phenotypic female who actually have a male
genotype.

2. Be aware of the risk of incarceration and consequences i.e. bowel and
testicular compromise, especially in infant

The answer is really explained in the objective title. If the hernia becomes
incarcerated then this can compromise the blood supply to the bowel that
is enveloped as well as the blood supply to the structures below (the
testis). Infants are especially at risk of this.

The operation is carried out via an inguinal skin crease incision and
involves ligation and division of the hernia sac (processus vaginalis).

Intestinal Obstruction

1. Describe the clinical features and abdominal signs

Thus may be recognised antenatally on ultrasound scanning. Otherwise,
small bowel obstruction presents with persistent vomiting, which is bile-
stained unless the obstruction is above the ampulla of Vater. Meconium
may initially be passed but subsequently stool passage is usually delayed
or absent. Abdominal distension becomes increasingly prominent the
more distal the bowel obstruction is. High lesions will present soon after
birth whilst low lesions may not present for several days. Abdominal pain
in the patient is common and is usually colicky in nature before becoming
more constant. It may be noticeable that the child is unable to keep still.

Abdominal tenderness may be minimal and diffuse or localised and
severe. The abdomen may also be tympanic to percussion. This can go on
to become peritonitis. A rectal examination should also be performed.

Bowel sounds can be categorised as follows:
Mechanical obstruction produces active, high pitched, hyperactive
bowel sounds
Peristalsis may be increased in the upper abdomen and decreased
in the lower
With time peristaltic waves and bowel sounds disappear

The clinical examination will vary depending on the cause and these will
be described in detail further down.

Small bowel obstruction may be caused by:
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Atresia or stenosis of the duodenum
Atresia or stenosis of the jejunum or ileum
Malrotation or Volvulus
Meconium ileus
Meconium plug
Large bowel obstruction may be caused by:
Hirschsprung disease
Rectal atresia

2. Be aware of the diagnostic workup of potentially dangerous conditions
like malrotation, intussusception; fluid management and treatment

Diagnosis is made on clinical features and abdominal x-ray showing
intestinal obstruction. Other tests that may be useful include U&Es,
creatinine, glucose, FBC, urinalysis, ABG and stool for occult blood.
Imaging should include an abdominal x-ray and potentially a chest x-ray
to assess for perforation.

Treatment will be included in the appropriate section but is often surgical.

Fluid management for these patients is important. Firstly the patient
needs to be assessed for dehydration. If there is no dehydration then give
maintenance fluids at 100ml/kg for first 1kg, 50ml/kg for second 10kg
then 20ml/kg for the remainder up to 2500ml/kg. If dehydrated then give
the deficit (fluid deficit = % dehydration x weight in kg x 10).

Intussusception

1. Outline the age at presentation and clinical features

Intussusception describes the invagination of proximal bowel into a distal
segment. It most commonly involves ileum passing into the caecum
through the ileocaecal valve. Intussusception is the commonest cause of
intestinal obstruction in infants after the neonatal period. Although it may
occur at any age the peak age of presentation is between 3 months and 2
years. The most serious complication is stretching and constriction of the
mesentery resulting in venous obstruction, causing engorgement and
bleeding from the bowel mucosa, fluid loss and bowel perforation,
peritonitis and gut necrosis.

Presentation is typically with:
Paroxysmal, severe colicky pain and pallor during episodes of pain
the child becomes blue around the mouth and draws up his legs.
The child will initially recover between painful episodes but
subsequently becomes increasingly lethargic
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May refuse feeds, may vomit which may become bile stained
depending on the site affected
A sausage-shaped mass is often palpable
Passage of a characteristic redcurrant jelly stool comprising blood-
stained mucus is a characteristic sign but tends to occur later
Abdominal distension and shock

Usually no identifiable cause is found but a lead point such as Meckel
diverticulum or polyp is more likely to be present in children over 2 years
old.

2. Understand the importance of prompt diagnosis and subsequent
treatment including air enema reduction

Prompt diagnosis is important along with immediate fluid resuscitation
and urgent reduction of the intussusception to avoid complications. This is
because there is often pooling of fluid in the gut which may lead to
hypovolaemic shock.

An x-ray of the abdomen may show a small bowel and absence of gas in
the distal colon or rectum. Sometimes the outline of the intussusception
can itself be visualised. Abdominal ultrasound is helpful to both confirm
the diagnosis and to check the response to treatment. Unless there are
signs of peritonitis then the intussusception can be reduced by rectal air
insufflations by a radiologist. This procedure should be done once the
child has been resuscitated. The rate of success is around 75% and the
remaining 25% require surgery. Recurrence is less than 5%.

Pyloric Stenosis

1. Describe the clinical features and epidemiology

Pyloric stenosis is a hypertrophy of the pyloric muscle causing gastric
outlet obstruction. It presents at between 2 and 7 weeks of age,
irrespective of gestational age. It is more common in boys (4:1) and
particularly in first-borns, potentially due to a family history on the
maternal side. Clinical features are:
Vomiting, which increases in frequency and forcefulness over time,
ultimately becoming projectile
Hunger after vomiting until dehydration leads to loss of interest in
feeding
Weight loss if presentation is delayed
A hypochloraemic metabolic alkalosis with a low plasma sodium and
potassium occur as a result of vomiting stomach contents.

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The epidemiology is around 2-4/1000 live births and is most common in
the white population.

2. Understand the diagnostic investigations and treatment

Unless immediate fluid resuscitation is required then a test feed is
performed. The baby is given a milk feed, which will calm the hungry
infant, allowing examination. Gastric peristalsis may be seen as a wave
moving from left to right across the abdomen. The pyloric mass, which
feels like an olive, is usually palpable in the RUQ. If the stomach is over
distended with air, it will need to be emptied by a nasogastric tube to
allow palpation. Ultrasound examination is helpful if the diagnosis is in
doubt.

The initial priority is to correct fluid (see below for details) and electrolyte
imbalances with IV fluids. Once hydration and acid-base and electrolytes
are normal, definitive treatment by pyloromyotomy can be performed.
This involves division of the hypertrophied muscle down to, but not
including, the mucosa. The operation can be performed either as an open
procedure via a periumbilical incision or laparoscopically. Postoperatively
the child can usually be fed within 6 hours and discharged within 2 days
of surgery.

3. Describe the fluid and electrolyte imbalance, why this occurs and fluid
resuscitation

Hypochloraemic, hypokalaemic metabolic alkalosis is the classic acid-base
and electrolyte imbalance seen in pyloric stenosis. Persistent vomiting
causes the progressive loss of fluids rich in hydrochloric acid, which
causes the kidneys to retain hydrogen ions in favour of potassium.
Electrolyte abnormalities will depend on the duration of symptoms. The
dehydration may result in hyper or hyponatraemia and may result in
prerenal renal failure.

Treatment is with 0.45% saline and 5% dextrose with potassium
supplements. An initial 20ml/kg bolus should be given followed by 2-3
times their normal maintenance volumes. Regular reassessment is
needed.

Testicular Torsion

1. Describe the aetiology and causes of acute scrotum including torsion
and epididymo-orchitis

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Torsion

Testicular torsion is common in adolescents but may occur at any age,
including the perinatal period. The pain is not always centred on the
scrotum but may be in the groin or lower abdomen. Atypical presentation
is not unusual and the testes must always be examined whenever a boy
or young man presents with inguinal or lower abdominal pain of sudden
onset.

Torsion of the testes is more correctly torsion of the spermatic cord. It is
a surgical emergency and can cause strangulation of the gonadal blood
supply with subsequent testicular necrosis and atrophy. Patients often
complain of an acute-onset discomfort which may occur at rest or may
relate to sports or physical activities. They may describe similar episodes
which may suggest intermittent torsion. Patients deny voiding problems
or painful urination but may describe nausea and vomiting.

The spermatic cord typically twists in the inguinal canal or just below. An
extravaginal torsion (5%) usually manifests in the neonatal period and
most commonly develops prenatally in the spermatic cord, proximal to
the attachment of the tunica vaginalis. An intravaginal torsion (16%)
occurs within the tunica vaginalis and usually in older children (13 years
typically). The intravaginal torsion is related to anomalous testicular
suspension that has been referred to as the bell-clapper anomaly (a lack
of fixation). In many instances the anomaly may be bilateral but usually
the left is affected. Testicular salvage needs to occur within 6-8 hours.

Presentation is typically a firm, hard scrotal mass which does not
transilluminate in an otherwise asymptomatic newborn male. The scrotal
skin characteristically fixes to the necrotic gonad. In older boys the
presentation is sudden onset of severe testicular pain followed by inguinal
or scrotal swelling. Pain may lessen as necrosis becomes more complete.
Approximately one third of patients also have nausea and vomiting. In
some patients scrotal trauma or scrotal disease may precede the
presentation. A physical examination will reveal a swollen and tender,
high riding testis. There will be an absent cremasteric reflex.

Epididymo-orchitis

Epididymitis means inflammation of the epididymis whilst orchitis means
inflammation of the testis. As these two structures lie next to each other
it is often difficult to tell what is and isnt inflamed. Therefore the above
term is used.

Most causes are due to infection:
Urine infection bacterial infections, such as E.coli, can tract down
the vas deferens to cause an acute epididymo-orchitis. This can
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happen at any age and is the most common cause over 35. This is
because partial blockage of urine becomes more common with age.

STI a common cause in young men with chlamydia and
gonorrhoeal infection being most common.

Mumps can occur in 1 in 5 cases but is now uncommon due to
the MMR vaccination

Operation any operation in this area can cause this

Medication particularly amiodarone

Symptoms usually develop quickly over a day or so. The affected testis
swells rapidly and the scrotum becomes enlarged, tender, red and very
painful. There may also be other symptoms as a complication of the cause
i.e. pain when passing urine due to infection, fever, or discharge.

2. Compile a differential diagnosis of the acute scrotum and understand
the need for early exploration if in doubt

Torsion

Differential diagnosis includes:

Epididymitis, orchitis and epididymo-orchitis discussed in more
detail above and below. Usually occur due to an STI or urinary
reflux. Patients can develop these after excessive straining or lifting.
Testis tumour rarely acute and rarely painful
Hydrocele described later
Idiopathic scrotal oedema thickened and inflamed scrotal skin, the
testis is not inflamed and is in its normal size and position

Manual detorsion of the testis is needed within 6-8 hours and after 24
hours the testis will be completely dead. It is often difficult because of
acute pain during manipulation. This method is not a substitute for
surgical exploration. If successful then perform definitive surgical fixing as
an urgent rather than emergency procedure.

Epididymo-orchitis

Differentials include similar conditions to above: torsion, trauma, abscess
formation, tumour or hydrocele. Here appropriate rest and analgesia are
needed and there is less urgency (unless there is suspected torsion).
NSAIDs may be helpful and the patient should abstain from sex until it
has cleared up. An STI check should also be performed.
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Volvulus

1. Describe the clinical features in relation to the anatomical abnormality

Firstly a brief word on malrotation and Volvulus. Malrotation is an
abnormality of the bowel which happens whilst the baby is developing.
Volvulus is a complication of malrotation and occurs when the bowel
twists so the blood supply to that part of the bowel is cut off. It is worth
noting that Volvulus can occur without malrotation but they are often
linked.

The key symptoms of Volvulus are bloody or dark red stools, constipation,
distended abdomen, pain or tenderness of the abdomen, nausea or
vomiting which is often bilious, failure to thrive and shock. A typical
presentation is bouts of crying and pulling the legs in towards the body
which then stops suddenly. This is caused by cramps as the bowel cannot
push food and liquid past the obstruction. If ischemia develops then signs
of an acute abdomen and peritonitis may be prominent.

Bilious vomiting is the key presenting symptoms and the child should be
presumed to have volvulus unless proven otherwise. Infants presenting in
the first 24 hours after birth through to the first week of life tend to have
more severe obstruction.

2. Understand that bilious vomiting in a child is a worrying feature and
always requires investigation

It is! Im not sure what to add here?

3. Describe the initial management of a child with a Volvulus

Investigations

The diagnosis is generally made clinically and management should not be
delayed in order to obtain results from tests. FBC will help show the
severity, white cells will show sepsis and a low Hb may suggest venous
oozing. Regular U&Es are essential to assess hydration status as well as
sepsis and acidosis. Since such a large volume of fluid can migrate from
the bowel the patient may present without diarrhoea and vomiting.
Hyponatraemia, hyperkalaemia, metabolic acidosis, increased urea and
creatinine, hypochloraemia and lactic acidosis can occur in such cases.

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In simple rotation a plain radiograph can often be normal so upright,
supine and lateral radiographs can be more useful when combined.
Contrast studies are the best for diagnosing volvulus and obviously take
time. Ultrasound and CT can also be done but are less necessary.

Management

Treatment is generally surgery and the volvulus is corrected by rotating
the small intestine in an anti-clockwise direction, with the caecum being
placed on the left side and the duodenum directed down to the right.
Initial management should include fluid resuscitation as with
intussusception.

Balanitis

1. Outline the natural history of foreskin pathology, conservative
management with antibiotics; exclude conditions like BXO (white scarring)
which needs circumcision

Balanitis is an inflammation of the end of the penis (the glans). Often the
foreskin is also inflamed at the same time as the glans. This is a common
condition that can occur at any age but more commonly it affects boys
under 4 years and men who are not circumcised. It is very uncommon in
circumcised men. The most common symptoms are redness, irritation and
soreness of the end of the penis. It can range from a small patch to the
whole glans becoming red, painful and swollen. Sometimes there is a
thick clumpy discharge that comes from under the foreskin. There may
also be pain or discomfort when passing urine.

The main causes are:
Poor hygiene combined with a tight foreskin this can lead to
irritation by smegma (a cheesy-like substance which forms under
the foreskin if the glans is not cleaned). This is the most common
cause
Infection (not STI) candida is a common infection and is more
likely if there is already inflammation, the patient has diabetes or
there is phimosis
STI less likely in children but should be considered
Allergy or irritants
Skin condition

Pathological phimosis is seen as a whitish scarring of the foreskin and is
rare before the age of 5. The condition is due to localised skin disease
known as Balanitis xerotica obliterans (BXO), which also involves the
glans penis and can cause urethral meatal stenosis. Symptoms here
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include burning, pruritus, hypoesthesia, dysuria, painful erection and
these occur over months to years.

Management

The diagnosis is usually clinical but if the doctor is unsure then a swab
may be taken for bacterial culture, there may be a check for diabetes or
there may be referral to a GUM clinic. A biopsy can be taken if
inflammation persists.

The following is recommended regardless of cause: avoid soaps when
inflammation is present and use luke warm water to wash penis and
gently dry. The treatment will depend on the cause of Balanitis but may
include:
Anti-yeast cream of anti yeast tablets
Antibiotics
A mild steroid cream

2. Understand that most non-retractile foreskins are physiologically
normal

Phimosis (unretractable foreskin) is common in young boys. After the age
of five years the foreskin will usually retract easily so the glans can be
gently cleaned. You are more likely to get Balanitis if you have phimosis
as sweat, debris and urine may collect under the foreskin.

A non-retractable foreskin will be present in 50% at one year, 10% at 4
years and 1% at 16 years.

Cervical Lymphadenopathy

1. List the differential diagnosis and initial investigations including biopsy
for large nodes

Cervical lymphadenopathy is a common problem in children. The
condition most commonly represents a transient response to a benign
local or generalised infection but occasionally it might herald the presence
of a more serious disorder. Acute bilateral cervical lymphadenopathy is
usually caused by a viral URTI or streptococcal pharyngitis. Acute
unilateral cervical lymphadenitis is caused by streptococcal or
staphylococcal infection in 40-80% of cases. The most common causes of
sub-acute or chronic lymphadenitis are cat scratch disease, mycobacterial
infection and toxoplasmosis. Supraclavicular or posterior cervical
lymphadenopathy carries a much higher risk of malignancies than does
anterior cervical lymphadenopathy.
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25% of all malignancies in children occur in the head and neck. During
the first 6 years of life, neuroblastoma and leukaemia are the most
common tumours associated with cervical lymphadenopathy, followed by
rhabdomyosarcoma and non-Hodgkins lymphoma. After 6 years the
Hodgkins lymphoma is the most common tumour.

Differential diagnosis includes:
Mumps the swelling crosses the angle of the jaw
Thyroglossal cyst moves up on swallowing or with tongue
protrusion
Brachial cleft cyst a smooth and fluctuant mass located along the
lower anterior border of the sternomastoid muscle
Sternomastoid tumour hard, spindle shaped mass in the muscle
resulting from perinatal haemorrhage of the muscle with
subsequent healing by fibrosis. Can be moved horizontally but not
vertically
Cervical ribs orthopaedic anomalies that are usually bilateral, hard
and immovable
Cystic hygroma a multiloculated, endothelial lined cyst that is
diffuse, soft and compressible, contains lymphatic fluid and typically
transilluminates
Haemangioma a congenital vascular anomaly that often is present
at birth or appears shortly thereafter. The mass is usually red or
bluish
Laryngocele a soft, cystic, compressible mass that extends out of
the larynx and through the thyrohyoid membrane and becomes
larger with the valsalva manoeuvre. There may be associated
stridor or hoarseness.
Dermoid cyst a midline cyst that contains solid and cystic
components

Investigations

Tests are rarely necessary but include a FBC to screen for infection or
leukaemia, ESR to check for infection, ASA titre, throat culture, Mantoux
test, chest radiology and serological tests (for EBV, CMV and
toxoplasmosis). An electrocardiogram and echocardiogram are indicated if
Kawasaki disease (autoimmune disease of blood vessels) is suspected.
Ultrasound and CT might help to differentiate a solid from cystic mass and
to establish the presence and extent of suppuration or infiltration.

FNA and culture is a safe procedure to determine the causative organism
and appropriate antibiotic. Excisional biopsy and microscopic examination
may be necessary if there are signs or symptoms of malignancy.

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Cleft Lip and Palate

1. Recognise the clinical features, and know the common associations
with other conditions

About 1 in 700 children have cleft lip or palate and 0.8 per 1000 have
both. Cleft lip may be unilateral or bilateral and it is a result of the failure
of fusion of the frontonasal and maxillary processes. It can be incomplete
or complete (connection to the nostril or not). Cleft palate results from
failure of fusion of the palatine processes and the nasal septum. The cleft
often includes the soft palate and here cleft lip is often present too. Again
it can be complete (soft and hard palate) or incomplete (soft palate). This
hole connects the mouth directly to the nasal cavity. Generally
approximately half of all affected babies have cleft palate, a quarter have
cleft lip and a quarter have both. The combination is more common in
boys and cleft palate is more common in girls.

Common problems and presenting clinical features are:
Feeding problems inadequate suck
Ear infections and hearing impairment
Speech and language problems (repaired before speech starts to
develop)
Dental health change in structure
Psychological issues

Associated conditions/drugs include anticonvulsant therapy, isotretinoin,
Patau syndrome and a whole host of other chromosomal disorders.
Smoking, alcohol, obesity, lack of folate and hypertension in the mother,
have all been linked to this defect.

Pierre Robin syndrome is linked and is a rare condition where the baby is
born with an abnormally small lower jaw that causes their tongue to fall
backwards in their throat, causing breathing difficulties.

2. Be aware of the long term problems and feeding issues

The long term problems are similar to those above and include dental,
speech and language, ear infections, hearing, and psychological problems.

Clefts generally make feeding more difficult but some affected infants can
still be breast fed affectively. In bottle-fed infants this can be more
difficult and milk may be observed entering the babies nose and causing
it to cough and choke. Special teats and feeding devices may be helpful
here. Orthodontic advice and a dental prosthesis may help with feeding.

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Secretory otitis media is relatively common and should be sought on
follow-up. Infants are also prone to acute otitis media. Adenoidectomy is
best avoided as the resulting gap will exacerbate feeding problems and
the nasal quality of speech.

These defects can be surgically corrected.

Diaphragmatic Hernia

1. Be aware of this congenital condition and the basic embryology

A congenital diaphragmatic hernia is one of the more common
malformations in the newborn (1 per 2000) and is most frequently caused
by failure of one or both of the pleuroperitoneal membranes to close the
pericardioperitoneal canals. In that case, the peritoneal and pleural
cavities are continuous with one another along the posterior body wall.
This hernia allows abdominal viscera to enter the pleural cavity. In 85 to
90% of cases the hernia is on the left side, and intestinal loops, stomach,
spleen and part of the liver enter the thoracic cavity. The abdominal
viscera in the chest push the heart anteriorly and compress the lungs,
which are commonly hypoplastic. A large defect is associated with a high
rate of mortality (75%) from pulmonary hypoplasia and dysfunction.

Occasionally a small part of the muscular fibres of the diaphragm fails to
develop and a hernia may remain undiscovered until the child is several
years old. Such a defect, frequently seen in the anterior portion of the
diaphragm, is a parasternal hernia. Another type of diaphragmatic hernia
is an oesophageal hernia, thought to be due to oesophageal shortness.

Most cases are now diagnosed prenatally on ultrasound following the
discovery of polyhydramnios in the mother. Depending on the severity the
signs will often be:
Cyanosis shortly after birth
Tachypnoea
Tachycardia
Asymmetry of the chest wall
Absent breath sounds on one side of the chest (usually the left)
Bowel sounds audible over the chest wall
The abdomen feels less full on palpation
A shift of cardiac sounds
Signs of pneumothorax

2. Understand the basic management with ventilation and drugs to
stabilise patient following surgical repair

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Severely affected infants have chronic lung disease and these children
may require prolonged therapy of supplemental oxygen and diuretics.
These children may also require ventilation whilst their lungs recover.
Fluids are restricted to 40ml/kg for the first 24 hours, with an extra
10ml/kg being added until the 7
th
day. NG or IV feeding should also be
started. Intermediate mandatory ventilation is used to wean the child off
ventilation and can take up to 6 weeks.

Head Injury

1. Outline the evaluation of a child with minor head injury including GCS

Initially the patient will need assessing for the mode of injury and if there
is any need for resuscitation. A primary survey of ABCDE should be
conducted along with GCS (max = motor 6, verbal 5, eyes 4). If the GCS
in normal check they are haemodynamically stable, perform a
neurological assessment and check for any other injuries. If there are no
focal neurological signs then send home with written advice.

If there is a potentially serious head injury after assessing ABC then the
following should be true:
Witnessed loss of consciousness >5 minutes
Amnesia > 5 minutes
3 or more episodes of vomiting
Clinical suspicion of NAI
Post-traumatic seizure without history of epilepsy
GCS <15 (<14 if under 1)
Suspicion of open/depressed skull injury
Sign of skull base fracture (CSF leak, purple around eyes or ear
drum)
Dangerous mechanism (high speed traffic, fall>3m etc)

If the above is the case then an immediate CT head scan is needed and
the cervical spine should also be imaged. Along with the results there
should also be consideration of a persisting coma, decrease in GCS,
seizures without full recovery and focal neurological signs. If there is
evidence of secondary damage, a penetrating injury or CSF leak then
immediate neurosurgical referral is needed.

2. List the indications for admission and imaging

Imaging is required if there is a potentially serious head injury. This is
determined on clinical signs as well as the above bullet points. A child
may be admitted for observation if it is felt the parent cannot give the
necessary support but generally mild injuries will be discharged. A child
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will need admitting if they are shown, or it is suspected that they have a
serious head injury.

3. Be aware of other injuries that can occur together

Primary damage: cerebral contusions or lacerations, dural tears and
diffuse axonal damage

Secondary damage: hypoxia from airway obstruction or inadequate
ventilation, hypoglycaemia and hyperglycaemia, reduced cerebral
perfusion due to hypotension or raised ICP, haematoma (extradural,
subdural or intracranial) and infection from an open would or CSF leak.
Cervical spine injuries also need to be assessed as a matter of urgency as
moving a fractured spine can cause paralysis.

Hydrocele

1. Describe the pathology and difference from hernia

A hydrocele is cause by a patent processus vaginalis, which is sufficiently
narrow to prevent the formation of an inguinal hernia but still wide
enough to allow peritoneal fluid to track down around the testis to form a
hydrocele. Hydroceles are asymptomatic scrotal swellings, often bilateral,
and sometimes with bluish discolouration. They may be tense or lax but
are non-tender and transilluminate. Some hydroceles are not evident at
birth but present in early childhood after a viral or GI illness. The majority
resolve spontaneously as the processus continues to obliterate, but
surgery is considered if it persists beyond 18-24 months of age. A
hydrocele of the cord forms a non-tender mobile swelling in the spermatic
cord.

2. Outline the management of a hernia

Generally surgical and outlined above

Malrotation

1. Have a basic understanding of the embryology of intestinal rotation,
clinical features and the risk of Volvulus

At the fourth week of gestation the gastrointestinal system is a straight
tube from the stomach to the rectum. The bowel then moves into the
umbilical cord temporarily whilst it develops into the small and large
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bowel. Around the tenth week of pregnancy the bowel moves back into
the abdomen and coils up to fit into the limited space there. If the bowel
does not coil up in the correct position then it is malrotation. This is
because it is not fixed at the duodenojejunal flexure or in the ileocaecal
region due to incorrect rotation around the superior mesenteric artery.

Malrotation may have no symptoms and many people are never
diagnosed with it because it causes them no problems. However bands of
tissue that block the small bowel (duodenum) can develop. This means
food cannot easily pass through to the rest of the bowel. Generally 1 in
500 live births are affected and 60% present by the age of one month.
This malrotation can lead to complete or partial intestinal obstruction.
Either way the main sign is green bilious vomiting. Physical signs may
include distension and pain, vascular compromise, intraluminal bleeding,
guarding, shock and peritonitis.

Necrotising Enterocolitis

1. Describe the epidemiology and clinical and radiological features

Necrotising enterocolitis is a serious illness mainly affecting preterm
infants in the first few weeks of life (pseudomonas aeruginosa is thought
to be the cause). It is associated with bacterial invasion of ischaemic
bowel wall. This is the most common GI emergency occurring in neonates
and is an acute inflammatory disease with a multifactorial and
controversial aetiology. The condition is characterised by variable damage
to the intestinal tract from mucosal injury to full thickness necrosis and
perforation. This condition represents a significant clinical problem and
affects close to 10% of infants who weigh less than 1500g with mortality
rates of 50% of more depending on severity. It can also be observed in
term and near-term babies but is less common.

Males and females seem to be equally affected and there is no difference
across races. There are 1-2 cases per 1000 live births in the USA. Those
with a PDA are at increased risk.

NEC mostly affects the terminal ileum and proximal ascending colon but
can affect any part of the bowel. Infants fed cows milk formula are more
likely to develop this condition than if they are breast fed. Initial
symptoms can be subtle and include:
Feeding intolerance
Delayed gastric emptying
Abdominal distension and tenderness
Ileus
Erythema
Or systemic signs that are non-specific:
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Apnoea
Lethargy
Decreased peripheral perfusion
Shock
Cardiovascular collapse
Hypoglycaemia

Specific symptoms that might be part of the history include bilious
vomiting, abdominal distension, blood per rectum, free abdominal air and
systemic shock.

The characteristic x-ray features are distended loops of bowel and
thickening of the bowel wall with intramural gas. The disease may
progress to perforation and x-ray will show gas under the diaphragm,
transillumination of the abdomen and intraperitoneal fluid.

2. Outline the medical management and indications for surgery

Investigations should include FBC, blood cultures, U&Es, ABG and
imaging (x-ray +/- ultrasound). Treatment is to stop oral feeding and give
broad spectrum antibiotics to cover both aerobic and anaerobic
organisms. Parenteral nutrition is always needed and artificial ventilation
and circulatory support are often needed. The disease has significant
morbidity and mortality and the long-term sequelae include development
of strictures and malabsorption if extensive bowel resection has been
necessary.

Solid Tumours

1. Formulate a differential diagnosis

The word tumour does not directly imply cancer. Some tumours are
benign but in discussing malignant tumours the word solid is used to
distinguish between a localised mass of tissue and leukaemia. Different
types of tumour are named for the type of cells of which they are
composed:
Sarcomas cancers arising from the connective tissue such as bone
or muscle
Carcinomas arising from the bodys glandular cells and epithelial
cells which line body tissues
Lymphomas cancers of the lymph organs such as the lymph
nodes, spleen and thymus.

Now I will talk about the various types of solid tumour that may be found
in a young person.
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Lymphomas

These can broadly be divided into Hodgkins disease and non-Hodgkins
lymphomas. Hodgkins disease tends to involve peripheral lymph nodes,
where the first sign of disease may be a painless swelling in the neck,
armpit or groin. Hodgkins disease occurs most commonly in patients in
their twenties and thirties and occasionally in adolescents. It is rare in
younger children.

In children non-Hodgkins lymphoma most commonly occurs in the bowel,
particularly in the region adjacent to the appendix and in the upper-mid
section of the chest. An initial sign here may be abdominal pain or
swelling, or swelling of the face and neck. Non-Hodgkins lymphoma can
also occur in other organs including the liver, spleen, bone marrow, lymph
nodes, CNS and bones.

Lymphomas can only be diagnosed definitively through a biopsy. Once
this is done the tumour will need to be staged and located through a
combination of radiological scans and blood tests. Hodgkins disease is
highly susceptible to radiotherapy for localised disease. However these
cancers are often spread throughout the body so chemotherapy is the
main treatment of choice.

Brain tumours

Without being too specific brain tumours are classified and named for the
type of tissue in which they develop. As a group, brain tumours are the
second most common cancer in children. They can occur at any age,
including infancy and in adolescence, but are most often seen in children
5 to 10 years old.

Symptoms include seizures, morning headaches, vomiting, irritability,
behavioural problems, a change in eating and sleeping, lethargy or
clumsiness. Diagnosis is often difficult as these symptoms can and
frequently do indicate any number of problems, either physical or
emotional. Diagnostic tests usually include an X-ray, MRI or CT scan.
Treatment for the most part is with surgery and radiation.

Neuroblastoma

Will be described below but is a tumour of nerve cells

Wilms tumour

Will be described below but is a tumour of the cells in the kidney

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Retinoblastoma

This is a rare cancer of the eye and can be hereditary with one third of
cases affecting both eyes. This can usually be identified by looking at the
eye but direct vision under general anaesthesia may be needed. The
disease tends to remain localised for long periods but may spread in
advanced disease. If diagnosis is early it is possible to destroy the tumour
with radiotherapy and preserve normal vision. If extensive then the eye
may need to be removed.

Rhabdomyosarcoma

This is a soft tissue sarcoma arising in muscles. It occurs slightly more
frequently in males and usually affects children between the age of 2 and
6. Although it can occur in any muscle tissue, it is generally found in the
head, neck, pelvis and the extremities. It can grow and spread quite
rapidly but fortunately its symptoms are more obvious than other
cancers. A noticeable lump or swelling is seen in almost all cases. Other
symptoms will depend on what structures it grows near to. Definitive
diagnosis relies on biopsy.

Osteogenic Sarcoma

This is the most common type of bone cancer in children and arising as
the end of the bones. The bones most frequently involved are the large
bones of the upper arm (humerus) and leg (femur and tibia). These
usually occur between the age of 10 and 25 and are more common in
males. Young people with this type of cancer generally complain of pain
and swelling which they may blame on injury. Diagnosis can be difficult
but relies on the x-ray picture and a biopsy. Treatment is surgical
(amputation or limb sparing) followed by chemotherapy.

Ewings Sarcoma

This differs from an osteosarcoma in that it affects the bone shaft and
tends to be found in bones other than the long bones of the arm and leg,
such as the ribs. It usually occurs between 10 and 25 and is seen more
often in males, frequently spreading to other bones and the lung. Young
people with this cancer more often have general signs such as fever, chills
and weakness. Biopsy and x-ray are needed for diagnosis and treatment
is with intensive radiotherapy and chemotherapy.

2. Have a basic understanding of Wilms tumour, neuroblastoma and
sacrococcygeal teratoma

Wilms tumour affects the kidneys
Page | 196

This is the commonest intra-abdominal cancer of childhood (20%). It is
an undifferentiated mesodermal tumour of intermediate cell mass and
may be sporadic or familial. It usually develops in otherwise healthy
children but approximately 10% occur in children with recognised
malformations. It is usually unilateral (95%) and tends to be
encapsulated and vascularised, not crossing the midline. The tumour may
comprise of muscle, cartilage, bone and fibrous tissue and compresses
the normal renal structures.

Presentation is at around 3 years with an abnormally large abdomen,
abdominal pain in the flank, fever, nausea and vomiting, blood in the
urine (20%) and high BP in some cases. It can usually be easily palpated
by a doctor but will need a biopsy for definitive diagnosis. Ultrasound and
MRI will be done first to locate the mass and guide the biopsy. Usual
treatment is a nephrectomy followed by chemotherapy and also
radiotherapy of the flank is advised. Survival is 80-90% at 4 years but
prognosis after recurrence is poor (30-40%).

Neuroblastoma

These tumours arise from young nerve cells for an unknown reason. It is
quite common and 50% of cases will present in children under 2. It is a
neuroendocrine tumour arising from any neural crest element of the SNS.
It most frequently originates from the adrenal glands but can develop
elsewhere.

Symptoms include a mass, listlessness, persistent diarrhoea, breathing
problems, (if near lungs), weakness (if near spine) and pain. The tumour
often spreads and 50-60% will have metastasised before presentation.
Diagnosis includes blood tests and an ultrasound. An IV pyelogram and
urine tests may also be helpful. Treatment is surgical with adjunct
chemotherapy and radiotherapy.

Sacrococcygeal teratoma

This is a teratoma located at the base of the coccyx that is thought to be
derived from the primitive streak and is benign. It is seen in 1 in 35,000
live births and occurs more commonly in girls (3:1). It is the most
common tumour in newborns and may present on antenatal scanning or
as a palpable lump and may be mistaken for spinal bifida. The treatment
is complete surgical removal.

Suppurative Adenitis or Lymphadenitis

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1. List the common causes, investigations and diagnosis (including
biopsy)

Lymphadenitis is the inflammation and/or enlargement of lymph nodes
and is common in children (see cervical lymphadenopathy). Most cases
present in response to benign, local or generalised infections and may be
a single node or a cluster. The onset can be acute, sub-acute or chronic
and there are a wide range of causes. Most children with this will exhibit
small palpable cervical, axillary and inguinal nodes.

The history is generally the following:
URTI with sore throat, earache, coryza conjunctivitis or impetigo
Fever, irritability and anorexia
Contact with animals, especially kittens

Dental care is important and dental abscesses can cause lymphadenitis.
Acute bilateral cervical adenitis can be due to viral pharyngitis or
mononucleosis. A history of travel is also important for obvious reasons.

Causes are generally infection but can include autoimmune disorders. The
following are potential causes:
Staph, strep and viruses
TB
Cellulitis
Salmonella
HBV
CMV
Toxoplasmosis
Juvenile rheumatoid arthritis
Serum sickness
Leukaemia
Hodgkin lymphoma (or non-Hodgkins)
HIV

Investigations

Since there are many different causes it is important to tailor the
investigations to the clinical findings in addition to the lymphadenitis.
Investigations may include a gram stain, culture of aspirate, serology,
WBC count, ESR, LFTs and skin tests. Ultrasound and a chest radiograph
may also be useful. Biopsy, either FNA, excisional or partial, may be
done.

Treatment

Completely dependent on the cause but may be antimicrobial,
chemotherapy or radiotherapy.
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Tracheo-oesophageal Fistula +/- Atresia

1. Describe presentation, the different types and basic management

Oesophageal atresia should first be considered as a cause of maternal
polyhydramnios (excess fluid in the amniotic sac). There may also be
absent gas on prenatal ultrasound. Neonates with oesophageal atresia
usually develop copious, fine white frothy bubbles of mucus in the mouth
and nose. Secretions will recur despite suctioning. Infants may develop a
rattling respiration and episodes of coughing and choking in association
with cyanosis.

Symptoms will worsen during feeding in the presence of a TEF (tracheo-
oesophageal fistula). The symptoms induced by a malignant TEF are
cough, aspiration and fever. The average duration from onset of
symptoms to diagnosis is around 12 days. A physical examination should
be done to exclude other abnormalities. In the presence of a TEF
abdominal distension may occur, secondary to collection of air in the
stomach.

No causes have been founded but this condition is linked to trisomy 18,
21 and 13. Acquired TEFs may arise from trauma or mechanical
ventilation.

Subtypes

There are five basic types of oesophageal abnormality:
Type A (90%): a blind ending proximal part of the oesophagus with
the distal oesophagus joined to the trachea in a TEF
Type B (4%): a blind ending proximal and distal oesophagus
Type C (4%): the oesophagus communicates with the trachea but is
intact
Type D (1%): a proximal TEF and blind ending distal oesophagus
Type E (1%): a proximal and distal TEF with no connection between
the two

Management

Investigations will include an ultrasound prenatally which may show
polyhydramnios, absence of fluid in the stomach, a small abdomen, lower
than expected fetal weight and a distended oesophageal pouch.

Postnatal diagnosis should include:
Chest x-ray deviation, absence of gastric bubble, aspiration
pneumonia of upper lobes
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Insertion of an NG tube may show coiling in the mediastinum
Contrast studies seldom requires and increase the risk of
aspiration pneumonia and pulmonary injury.
CT scan will give a clear picture of the type of defect and its location
Flexible oesophagoscopy and bronchoscopy visual identification

In healthy infants without pulmonary complications a repair is carried out
within the first few days of life. If there are complications then initial
treatment is with parenteral nutrition, gastrostomy and upper pouch
suction until they are considered low risk. Pre-operatively a cuffed tube is
placed distally to the fistula to prevent reflux. If palliative then treatment
should be relief of obstruction and diversion of contamination away from
the respiratory tract.

Supportive measures include NG drainage, tracheostomy, gastrostomy
and IV hydration and antibiotics. The repair is done via a right
thoracotomy.

Undescended Testicle

1. Identify a palpable vs. impalpable testicle and the management

An undescended testis has been arrested along its normal pathway of
descent. At birth about 4% of full-term male infants will have a unilateral
or bilateral undescended testis (cryptorchidism). It is more common in
preterm infants because the testicular descent through the inguinal canal
occurs in the third trimester. Testicular descent may continue during early
infancy and by 3 months of age the overall rate of cryptorchidism in boys
is 1.5%, with little change thereafter. Contrary to previous teaching, it is
now recognised that a descended testis can ascend to an inguinal position
during childhood, accounting for some late-presenting undescended
testis. This may be due to a shortening of the cord structures during the
growth of the child.

Examination should be carried out in a warm room with warm hands and
a relaxed child. The testes can then be brought down into a palpable
position be gently massaging the contents of the inguinal canal towards to
scrotum.

Classification of the position of the testes is:
Retractile: can be manipulated into the bottom of the scrotum
without tension but subsequently retract back into the inguinal
region, pulled up by the cremasteric muscle. With age the testis will
usually reside permanently in the scrotum.
Palpable: can be palpated in the groin but cannot be manipulated
into the scrotum. Occasionally a testis is ectopic when it lies outside
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of the normal line of descent and may be found in the perineum or
femoral triangle.
Impalpable: no testis can be felt on detailed examination and the
testis may be in the inguinal canal, intra-abdominal or absent.

Investigations should include:
Ultrasound: identifying the testis in the inguinal region but cannot
reliably distinguish between an intra-abdominal or absent testis. It
is usually done in bilateral impalpable testes to verify their
presence.
Hormonal: for bilateral impalpable testes the presence of testicular
tissue can be confirmed by recording a serum rise of testosterone in
response to IM injection of human chorionic gonadotrophin (HCG).
Laparoscopy: investigation of choice

Management

Surgical placement of the testis in the scrotum (orchidopexy) is
undertaken for several reasons:
Fertility: to optimise spermatogenesis the testis needed to be in the
scrotum below body temperature. This is usually done in the second
year of life but referral should occur after 6 months. Fertility after
one undescended testis is near 100% but this drops to 50% with
bilateral undescended testes post surgery. Men with bilateral
impalpable testes are usually sterile.
Malignancy: there is an increased risk of malignancy with the risk
highest in bilateral undescended testes. The risk may be lower as
the testes can be palpated if in the scrotum allowing for early
detection
Cosmetic and psychological: important to consider and prosthesis
can be used followed by an increase in size for adults.

2. Be aware of the risks of operating vs. not operating and the later risks

Combined with the management section above

Abdominal Wall Defects

1. List the clinical features of gastroschisis and exomphalos (associated
anomalities with latter)

Exomphalos literally translates to mean outside the naval. It is a
congenital abnormality in which the contents of the abdomen herniate
into the umbilical cord through the umbilical ring. The viscera, which often
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includes the liver, is covered by a thin membrane consisting of
peritoneum and amnion.

Gastroschisis means stomach cleft and is a congenital defect of the
abdominal wall, usually to the right of the umbilical cord insertion.
Abdominal contents herniate into the amniotic sac, usually just involving
the small intestine but sometimes also the stomach, colon and ovaries.
Unlike exomphalos there is no covering membrane.

These both are the most common congenital abnormalities encountered
by paediatric surgeons. The incidence of exomphalos is 2 per 5000 births
and is linked with increased maternal age and genetics. The incidence of
gastroschisis is 4-5 per 10,000 births. Both abnormalities have been
linked to conditions affecting placental insufficiency including illness,
infection, drugs and smoking.

Presentation is pretty obvious at birth but can be diagnosed antenatally
with ultrasound or a raise alpha-fetoprotein in the second trimester.
Gastroschisis in particular is associated with other congenital defects.

2. Be aware of the common umbilical abnormalities patent vitello-
intestinal duct/urachus, umbilical granuloma, bladder exstrophy

Urachus

This is where a fibrous remnant of the allantois is persistent. This is
normally a canal that joins the urinary bladder of the fetus with the
umbilical cord. This will lead to leakage of urine from the umbilicus and
needs surgical removal. There are four anatomical cases:
Urachal cyst no connection between umbilicus and bladder
Urachal fistula a free connection between them
Urachal diverticulum bladder out pouching
Urachal sinus pouch opens towards umbilicus

Patent vitello intestinal duct

This is similar to a urachus but is where the vitello intestinal duct does not
close and leads to a discharge of enteric contents from the umbilicus in
the first few days of life.

Umbilical granuloma

This is where the inflammatory process at the umbilicus becomes florid
with excess granulation tissue preventing the raw area from developing
new epithelial cells. The interruption of this normal process is usually due
to infection and will usually respond to silver nitrate cauterisation.
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Bladder exstrophy

This is a congenital abnormality in which part of the urinary bladder is
present outside the body. It is rare (10,000 to 50,000 live births) with a
male to female ratio of 2:1. It is due to a failure of the abdominal wall to
close during development and leads to the anterior bladder protruding.
Treatment here is surgical correction.

Anorectal Malformations

1. Be aware of the classification: high and low anomalities and the
associations

Anorectal malformations are birth defects where the anus and rectum do
not develop properly. With an anorectal malformation several
abnormalities can occur including the following:
A membrane may be present over the anal opening
The rectum may not be connected to the anus (imperforate anus)
The rectum may be connected to part of the urinary tract or the
reproductive system through a fistula.
Anal stenosis
The rectum may be connected to another part of the skin

Malformations like this occur in 1 per 4000-5000 births and are slightly
more common in boys. The defects can be classified into low defects
(close to the skin) or high defects (far away from skin).

There are many associations with these conditions. Cardiovascular
malformations occur in 12-22%, the most common being TOF and VSD.
Many GI malformations are also associated including tracheo-oesophageal
anomalies, duodenal atresia, malrotation and Hirschsprung disease.
Sacral/spinal problems are associated, especially with high anomalities.
Vaginal and uterine problems are common.

2. Outline the surgical management

If feeds have been started then they should be stopped and then an NG
tube passed to empty the stomach. Fluids will be given via a peripheral
cannula and an x-ray will be taken to identify where and what the
anomaly is. All babies will be given a small dose of antibiotics initially and
these will need to be continued for several months.

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Low anomalities are treated with an anoplasty. This is where the anus is
exposed under the skin. This will need serial dilators passing through the
new hole regularly to prevent initial stenosis.

High anomalities will require a temporary colostomy initially. Several
weeks after this operation, when the child is feeding again, the bowel will
be imaged to assess its anatomy. Then an appropriate operation will
occur to form a new anus.

Atresias of the Bowel

1. Be aware of these in the newborn period and their clinical/radiological
features

Jejunoileal atresia and stenosis are major causes of neonatal intestinal
obstruction. Atresia refers to a congenital obstruction that is complete.
Most newborns will present with a bilious vomit. The prevalence is pretty
low at 2 per 10,000 live births yet intestinal atresia counts for 1/3 of all
neonatal intestinal obstruction. The atresia can be in the duodenum
(heavily associated with Down syndrome), jejunum or ileum.

They present, as mentioned, with bilious vomiting, prematurity,
polyhydramnios and low birth weight. Additional early signs are jaundice,
abdominal distension and a failure to pass meconium. There will also be
signs of continuous fluid loss such as dehydration, poor urine output,
tachycardia and neurological involvement.

Plain abdominal radiograph will show a dilated gas bubble and massively
dilated proximal bowel with a gasless abdomen distal to the obstruction.
Contrast studies will clearly show the anomaly.

Circumcision

1. Outline the medical indications and complications

At birth the foreskin is adherent to the surface of the glans penis. These
adhesions separate spontaneously with time, allowing the foreskin to
become more mobile and eventually retractile. At 1 year of age
approximately 50% of boys have non-retractile foreskins but at 4 years
this is 10% and 1% at 16 years. A non-retractable foreskin leads to
ballooning on micturation, which is physiological. Gentle retraction of the
foreskin at bath times helps to maintain hygiene, but forcible retraction
should be avoided.

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Two conditions that require reassurance are preputial adhesions (where
the foreskin remains partly adherent to the gland) and the presence of
white pearls under the foreskin due to trapped epithelial squames. Both
conditions are usually asymptomatic and resolve spontaneously.

Circumcision is no longer routinely justified on medical grounds and it is
not without its risks and morbidity. The few medical indications are:
Phimosis: inability to retract the foreskin which is physiological at
birth. Pathological phimosis is characterised by white scaring (BXO).
Recurrent balanoposthitis: single attack of redness and
inflammation of the foreskin, sometimes with a purulent discharge,
is common and usually responds rapidly to warm baths and a
broad-spectrum antibiotic. Recurrent attacks of this are uncommon
and circumcision is occasionally indicated
Recurrent UTIs: although more common in uncircumcised boys the
overall incidence is low and routine circumcision is not justified.
There is some data so show circumcised men are less likely to
contract HIV

Surgery is performed under general anaesthetic and healing can take up
to 10 days with discomfort for several days. Bleeding and infection are
well recognised complications but more serious hazards such as damage
to the glands may occur. Topical corticosteroids to the prepuce have been
shown to facilitate retraction of a non-retractile prepuce, with success
rates of up to 80%. Here it is applied twice daily for 2-3 months.

Congenital Neck Cyst

1. Compile a differential diagnosis based on anatomical location

Most of these differentials are included in the cervical lymphadenopathy
section. They include:
Thyroglossal duct cyst a remnant of the developing thyroid gland
and tongue. If the duct remains then there will be a midline mass
that moves up on swallowing or on protrusion of the tongue. The
entire tract needs to be completely removed to stop occurance
Branchial cleft cyst congenital lesions that arise from remnants of
a slight cleft or defect during gestation. They are usually found on
the side of the necks of children aged 2-10 and can change in size
and shape. They are often noted after URTI. They may have
external openings from which mucus drains out.
Dermoid cyst slow growing, benign tumours which may occur in
the midline of the neck. They are usually firm lumps attached to the
overlying skin.
Enlarged lymph nodes most commonly found lumps or swellings
in children. They can be caused by bacterial or viral infections,
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malignancies or other rarer causes. Their management is described
above.

Other enlargements include the salivary glands, sebaceous cysts and
thyroid gland swellings.

Labial Adhesions

1. Be aware of the clinical features and basic management

Labial adhesions are a common disorder in prepubertal females. The
disorder is usually asymptomatic and is often first noticed by parents or
during a routine physical examination.

A host of other pediatric vaginal or
urethral disorders, including an imperforate hymen or a septate vagina,
must be excluded. Treatment of labial adhesions is typically conservative.
They occur most often in infants and girls aged 3 months to 6 years with
a peak incidence between 1-2 years.

A typical history is of an asymptomatic disorder noticed by parents.
However parents may notice urine pooling in the vagina with voiding and
the subsequent urine leakage when the child stands post voiding. Children
may have some discomfort when voiding (rare) or have increased UTIs
(rare).

Labial adhesions are generally readily apparent as thin, pale, semi-
translucent membranes covering the vaginal os between the labia minora.
In severe cases these adhesions entirely close the vignal os. Typically
they begin posteriorly and progress a variable distance anteriorly towards
to clitoris. A full examination should check for interlabial masses, genital
anomalies, fusion of the labia majora and signs of sexual abuse.

The cause is thought to be due to low estrogen levels but the protective
effect of maternal estrogen makes labial adhesions uncommon in the
newborn period. They may also be caused by vaginal inflammation, local
irritation of tissue trauma. Therefore child sex abuse needs to be
considered and is associated with lacerations and hematomas.

Management

No investigations are indicated

Treatment is generally observation and spontaneous resolution has been
reported in as many as 80% within 1 year. If treatment is necessary
based on symptoms or parental request then estrogen cream is indicated.
It is directly applied to the labia minora and can be used twice daily for 2-
4 weeks. The success rate here is around 90%. Parents may also use the
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pull down manoeuvre (the labia majora are grasped and gentle retracted
caudally and laterally) to facilitate gentle takedown of the adhesions.
Once the adhesions are separated apply an emollient or antibiotic
ointment 3-5 times a day for several months to allow complete healing
and prevent recurrence.

Meckels Diverticulum

1. Outline the clinical features and complications namely abdominal pain
mimicking appendicitis, lower GI bleed, obstruction

This is the vestigial remnant of the vitellointestinal duct due to its
incomplete obliteration. It is the most frequent malformation of the GI
tract. If present it is located in the distal ileum, usually within 100cm of
the ileocaecal valve. It is present in around 2% of the population but only
causes problems in a small proportion (4%). For asymptomatic
diverticular there is no gender predominance but if symptomatic then it
may be more common in boys. There are two types of complication that
can require clinical attention. The first is ectopic mucosal tissue which can
often lead to GI bleeding in younger children. The second is to do with
other intra-abdominal structures i.e. obstruction. In children under 2 the
classic sign is painless rectal bleeding. However over half the cases
present in children over 2, generally at 2-8 years.

Most patients are asymptomatic and Meckels diverticulum is found
incidentally on investigation during endoscopy or a barium study. If
symptomatic then complications can be divided into several sections:

Bowel obstruction (35%) abdominal pain, vomiting and
constipation are common. The pain may be anywhere in the
abdomen but, when localised to the RIF, it can mimic appendicitis
(Meckels Diverticulitis). Various mechanisms cause this obstruction
including fibrous bands that can lead to volvulus or intussusception.

Haemorrhage (32%) more common in younger children and
presents with bright red blood in the stools. The blood can vary in
quantity and also in colour depending on the guts transit time

Diverticulitis (22%) similar symptoms to appendicitis and is acute
inflammation of the diverticulum

Umbilical abnormalities (10%) this can include fistulas, cysts,
sinuses and fibrous bands from the diverticulum to the umbilicus.

Varicocele
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1. List the clinical features and risks

A varicocele is an abnormal dilatation of the testicular veins in the
pampiniform venous plexus, caused by venous reflux. They are important
because they are well recognised to cause a reduction of testicular
function and are associated with male infertility. They are most common
on the left for anatomical reasons:
The angle at which the left testicular vein enters the left renal vein
Lack of effective valves between the testicular and renal veins
Increased reflux from compression of the renal veins

It is unusual in boys under the age of 10years and increases in incidence
after puberty. The incidence of 15-20% in adolescents is similar to that in
adults. They are found in 40% of infertile men.

They are usually asymptomatic (between 2-10% have symptoms) and
only rarely cause pain. The scrotum is often described as feeling like a
bag of worms. Patients may report scrotal heaviness or it may be an
incidental finding on examination. They are often found on investigation
for infertility.

Careful examination of a man stood to attention is the most important
method of detection. The scrotum of the side of the varicocele hangs
lower than on the normal side. Dilation and tortuosity of the veins
increase with standing and usually decrease on lying down. The varicocele
can often not be palpated when the patient is lying down. Performing the
valsalva manoeuvre whilst standing increases the dilation and there may
be a cough impulse.

More are in the left testicle (80-90%), some bilateral and very few on the
right side. Large and easily identified are grade 3, moderate and identified
on palpation are grade 2 and small, only identified on valsalva, are grade
1. However examination is not the most reliable investigation so others
such as sperm count, Doppler studies and ultrasound examination are
needed.

The risk, as mentioned above, is infertility. Surgery can help correct this
problem and improves fertility in around half of patients, doubling their
fertility rate.

Genetics and Syndromes

Down Syndrome

1. Understand the cytogenetics and obstetric risk factors
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The extra chromosome 21 may result from meiotic non-disjunction,
translocation or mosaicism.

Meiotic non-disjunction (94%):

This is an error in meiosis where a pair of chromosome 21 fail to separate
so one gamete has two chromosome 21s. Fertilisation of this gamete adds
another 21 and hence there are three. This incidence is related to
maternal age but only drastically increases over 30. Furthermore the
extra 21 can occur in spermatogenesis so can be of paternal origin. All
mothers are now offered screening for this during pregnancy. The risk of
recurrent Down syndrome is 1 in 200 for mothers under 35 but remains
similar to the age-related population risk for those over the age of 35.

Translocation (5%)

This is when the extra chromosome 21 is joined onto another
chromosome (usually 14 but can be 15, 22 or 21) and this is known as
Robertsonian translocation. This may be present in a phenotypically
normal carrier with 45 chromosomes (two being joined together) or in
someone with Down syndrome with a set of 46 chromosomes but three
copies of 21. In this situation parental chromosome analysis is
recommended. The risk is 10-15% if the mother is the carrier and 2.5% if
the dad is. If a parent carries a 21:21 translocation then all children will
be affected.

Mosaicism (1%)

Some cells are normal and some have trisomy 21. This usually arises
after the formation of the chromosomally normal zygote by non-
disjunction at mitosis but can arise by later mitotic non-disjunction in a
trisomy 21 conception. The phenotype is sometimes milder in Down
syndrome mosaicism.

2. List the clinical features and associated problems

Down syndrome is the most common autosomal trisomy and the most
common genetic cause of severe learning difficulties. The incidence in
live-born infants is about 1 in 650. Characteristic clinical manifestations
can be divided into two sections:

Typical craniofacial appearance:
Round face and flat nasal bridge
Upslanted palpebral fissures
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Epicanthic folds (a fold of skin running across the inner edge of the
palpebral fissure)
Brushfield spots in the iris (pigmented spots)
Small mouth and protruding tongue
Small ears
Flat occiput and third fontanelle

Other abnormalities:
Short neck
Single palmar creases, incurved fifth finger and wide sandal gap
between toes
Hypotonia
Congenital heart defects (40%)
Duodenal atresia
Hirschsprung disease

It is difficult to give a long term prognosis in the neonatal period as there
is individual variation in the degree of learning disability and development
of complications. Over 85% survive to 1 year of age. Congenital heart
disease is present in 30%. At least 50% of affected individuals live longer
than 50 years.

3. Outline the diagnostic investigations

The diagnosis can be difficult to make when relying on clinical signs alone
and should be confirmed by a senior paediatric clinician. Before blood is
sent for analysis the parents should be informed that a test for Down
syndrome is being performed. The results may take 1-2 days using rapid
FISH (fluorescent in situ hybridisation) techniques. There are also
investigations that can be performed in utero including biochemical
markers, nuchal thickness on ultrasound and amniocentesis.

4. Outline the long term problems and multi-disciplinary nature of care

Later medical problems include:
Delayed motor milestones
Moderate to severe learning difficulties
Small stature
Increased susceptibility to infections
Hearing impairment from secretory otitis media
Visual impairment for cataracts, squints and myopia
Increased risk of leukaemia and solid tumours
Risk of atlanto-axial instability
Increased risk of hypothyroidism and coeliac disease
Epilepsy
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Alzheimers disease

Turner Syndrome

1. Understand the cytogenetics

Usually >95% result in early miscarriage (incompatible with life for
males) and is increasingly detected by ultrasound antenatally when fetal
oedema of the neck, hands, feet or a cystic hygroma may be identified.
The incidence is 1 in 2500 live births. In about 50% of girls with Turner
syndrome there are 45 chromosomes, with only one X chromosome. The
other cases have a deletion of the short arm of one X chromosome, an
isochromosome that has two long arms but no short arms or a variety of
other structural defects of one of the X chromosomes. The presence of a Y
chromosome sequence may increase the risk of gonadoblastoma. There
can also be a mosaic form of Turner syndrome where the X chromosome
is only missing from some cells.

2. List the clinical features and associated problems

Girls and women who have Turner syndrome often have a wide range of
medical symptoms and characteristics however there are two
characteristics that occur in almost all cases. They are:
Being shorter than average height
A lack of development of the ovaries leading to infertility

The clinical features are:
Lymphoedema of hands and feet in neonates which may persist
Spoon-shaped nails
Short stature a cardinal feature
Neck webbing or thick neck
Wide carrying angle
Widely spaced nipples
Congenital heart defects (Coarctation of the aorta)
Delayed puberty
Ovarian dysgenesis resulting in infertility
Hypothyroidism
Renal anomalies
Pigmented moles
Recurrent otitis media
Normal intellectual function in most

3. Outline the diagnostic investigations

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An ultrasound investigation will often reveal fetal oedema of the neck,
hands and feed or a cystic hygroma. Further tests include chorionic villus
sampling and amniocentesis for genetic screening.

4. Outline the long term problems and management options

Long term problems include:
Heart murmur
Underactive thyroid
High BP
Osteoporosis
Scoliosis
Diabetes
Lymphoedema
GI bleeding
Kidney and urinary tract problems

Aside from medical problems there are also psychological problems which
include
Learning difficulties and lack of social intelligence (rare)
Spatial awareness and numeracy problems
Attention and hyperactivity problems
Infertility

Management

Regular health checks are indicated for girls and women with Turner
syndrome to provide early preventative care. This includes hearing and
ears, blood pressure, thyroid gland, glucose levels and bone mineral
density. Growth hormone therapy can also be provided to girls who are
obviously not growing normally as it will help prevent short height in
adulthood. Growth hormone is usually started at the age of 5 or 6 but it
can be started later and usually continues until 15 or 16. However the GH
can give many side effects including headaches, visual problems, nausea,
vomiting, joint pain, insulin resistance and underactive thyroid to name
but a few.

Oestrogen and progesterone replacement therapy is given to aid sexual
development and maintain this until around 50 years old. Treatment
should be started around 12 to 15 to minimise its affect on growth.
Fertility cannot be restored to these women but IVF if a viable alternative.

Additional support is available for learning difficulties and other
psychosocial problems.

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Duchenne Muscular Dystrophy

1. Understand the mode of inheritance

Duchenne muscular dystrophy is the most common phenotype affecting 1
in 4000 male infants. It is inherited as an x-linked recessive disorder,
although about a third have new mutations. It results from a deletion on
the short arm of the X chromosome (at the Xp21 site). This codes for a
protein called dystrophin which connects the cytoskeleton of a muscle
fibre to the surrounding extracellular matrix through the cell membrane.
Where it is deficient there are several aberrant intracellular signalling
pathway associations including an influx of calcium ions, a breakdown of
the calcium calmodulin complex and an excess of free radicals, ultimately
leading to myofibre necrosis.

2. Describe the clinical features

Children present with a waddling gait and/or language delay; they have to
mount stairs one by one and run slowly compared to their peers.
Although the average age of diagnosis remains 5.5 years, children often
become symptomatic much earlier (around 3 years old). They will show
Gowers sign (a need to turn prone to rise). There is pseudohypertrophy of
the calves because of replacement of muscle fibres by fat and fibrous
tissue. In the early school years affected boys tend to be slower and
clumsier than their peers. The progression of muscular atrophy and
weakness means that they are no longer ambulant by the age of about
10-14. Life expectancy is reduced to the late twenties from respiratory
failure or the associated cardiomyopathy. About one third have learning
difficulties and scoliosis is a common complication.

3. Outline the early diagnostic signs/symptoms and initial screening tests

Early symptoms/signs of DMD include difficulty climbing the stairs, unable
to play sports as they used to and finding it hard to lift objects. The child
may have difficulty walking and may fall down more often than expected.
The child may also use Gowers manoeuvre to stand.

Investigations will include a family history (important), blood tests
(creatine kinase to check for muscle breakdown) and muscle biopsy
(conclusive and also helps determine type of MD). Other tests include
MRI, CT, X-ray (for the heart), EMG of the muscle and an
echocardiogram.

4. Be aware of the management of cases from time of diagnosis
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Appropriate exercise helps to maintain muscle power and mobility and
delays the onset of scoliosis. Contractures, particularly at the ankles,
should be prevented by passive stretching and the provision of night
splints. Walking can be prolonged with the provision of orthoses, in
particular those which allow ambulation by leaning from side to side.
Lengthening of the Achilles tendon may be required to facilitate
ambulation (walking/moving). Attention to maintaining a good sitting
posture helps to minimise the risk of scoliosis. Scoliosis is managed with a
truncal brace, a moulded seat and ultimately surgical insertion of a metal
spinal rod. Later in the condition, episodes of nocturnal hypoxia secondary
to weakness of the intercostals muscles may present with lassitude or
irritability. Respiratory aids, particularly overnight CPAP or NIPPV may be
provided to improve quality of life. Ambulant children with DMD are
increasingly treated with corticosteroids to preserve mobility and prevent
scoliosis.

Heart conditions can also occur and these need appropriate monitoring
and treatment if required.

Dysmorphism

1. Understand the importance of genetic counselling in paediatrics

The main aims of genetic counselling are supportive and educational.
Genetic counselling aims to support and provide information for
individuals, couples and families:
To understand their situation
To make their own decisions about managing the disease or risk of
disease, including decisions about genetic testing and reproduction
To adjust to their situation of being affected by or at risk of the
genetic condition

A primary goal of genetic counselling is to provide information to allow
greater autonomy and choice in reproductive decisions and other areas of
personal life. Avoiding additional cases of genetic disease in a family may
be a consequence of genetic counselling but is not the primary aim. The
elements of genetic counselling include:
Listening to questions and concerns of the patient, client or family
Establishing the correct diagnosis: This involves detailed history,
examination and appropriate investigations that may include
chromosome or DNA or other molecular genetic analysis,
biochemical tests, X-rays and clinical photographs. Despite
extensive investigation the diagnosis may remain unknown, e.g. a
child with learning disability and mild or non-specific dysmorphic
features.
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Risk estimation: this requires both diagnostic and pedigree
information. Drawing a pedigree of three generations is essential as
part of a clinical genetic assessment. The mode of inheritance may
be apparent from this. However in some cases it may not be
possible to define a precise recurrence risk and uncertainty may
remain, e.g. conditions that only affect one member of a family and
can be both autosomal recessive or dominant
Communication: information must be presented in an
understandable and unbiased way. Families often prefer written
information as they can refer back to it. Diagrams can be
particularly useful to explain patterns of inheritance.
Discussing options for management and prevention: if there
appears to be a risk to offspring then all reproductive options should
be discussed. These include not having any more children, reducing
intended family size, taking the risk and proceeding, having
antenatal diagnosis and selective termination, having donor
insemination or using IVF with preimplantation diagnosis.

2. Describe some common dysmorphic features associated with
syndromes

Dysmorphic features can occur from a number of pathogenic mechanisms
which include malformation (a structural defect occurring during
development), deformation (an intrauterine mechanical force that distorts
a normally formed structure), disruption (destruction of parts that
originally were normal) and dysplasia (abnormal cellular structure or
function of specific tissues.

These defects can be a single system defect, a sequence of defects (one
leads to another), an association (group of defects but in different
patterns each time) or a syndrome (a set of anomalies occurring
repeatedly in a specific pattern). Syndromes may be due to chromosomal
defects, a single gene defect, exposure to teratogens or due to an
unknown cause.

Common dysmorphic features include:
Noonan syndrome short stature, broad forehead, wide distance
between eyes, drooping eyelids, low-set ears, small jaw, short neck
and a lower than normal hairline

Williams syndrome upturned nose, widely spaced eyes, small
chin, slightly puffy cheeks and irregular widespread teeth

Prader-willi syndrome almond shaped eyes, narrowing of the
forehead at the temple, narrow bridge of nose, thin upper lip and
upturned mouth
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Downs Syndrome eyes that slant up, small ears, flat back of
head, small mouth, protruding tongue, flattened nasal bridge, white
spots on the iris, short fingers, broad hands with single crease,
loose skin on back of neck, poor muscle tone, loos joints, low birth
weight and vertical folds (epicanthic folds) between the upper
eyelids and inner corner of the eye

Neurofibromatosis and Tuberous Sclerosis

1. Outline the diagnostic criteria and types

Quick summary TS is a genetic condition that causes non-malignant
tumours to grow in the brain and other vital organs. NF on the other hand
is a genetic condition that causes the nerve tissue to grow benign
tumours.

Neurofibromaosis

Type 1 neurofibromatosis affects 1 in 3000 live births and is an autosomal
dominant, highly penetrant condition. One third of patients have a new
mutation.

Type 2 neurofibromatosis affects 1 in 25,000 live births and is a central
form with CNS lesions rather than peripheral nerves. Again this is an
autosomal dominant and highly penetrant condition.

Type 1 diagnostic criteria (2 or more of)
Six or more caf au lait spots >5mm in size before puberty,
>15mm after puberty
More than one neurofibroma, an unsightly firm nodular overgrowth
of any nerve
Axillary freckles
Optic gliomas which may cause visual impairment
One Lisch nodule, a hamartoma of the iris seen on slit-lamp
examination
Bony lesions from sphenoid dysplasia, which can cause eye
protrusion
A first degree relative with NF1

Type 2 diagnostic criteria
Bilateral 8
th
nerve masses on MRI scan
A first degree relative with NF2 for a unilateral 8
th
nerve mass
A first degree relative with NF2 for an individual with at least two of
the following: meningioma, gliomas, schwannoma or juvenile
cataracts
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Tuberous Sclerosis

This disorder is a dominantly inherited disorder but up to 70% are new
mutations. Prevalence is 1 in 9000 births. The diagnostic criteria are as
follows: (2 major or 1 major and 2 minor)

Major:
Facial angiofibromas
At least 3 hypomelanotic macules (ash leaf spots)
Shagreen patch (connective tissue naevus)
Cortical tuber
Cardiac rhabdomyoma
Retinal hamartoma
Renal angiomyolipoma

Minor:
Pits in dental enamel
Hamartomatous rectal polyps
Bone cysts
Gingival fibromas
Non-renal hamartoma
Multiple renal cysts
Skin tags
Positive history in first degree relative

It typically presents in childhood with skin changes and epilepsy before
the age of 5 years.

2. Be aware of the clinical features and presentation

Neurofibromatosis

Type 1 - The clinical features and presentation are listed in the diagnostic
criteria. However to recap these are coffee-coloured patches, freckles and
bumps on or under the skin. Type 1 NF usually presents with the
unsightly neurofibroma.

There are also several systems that seem to be commonly affected:
Learning and behaviour around 60% having learning difficulties,
although only mild. ADHD is also relatively common in these
children
The eyes about 14% develop a non-cancerous tumour of the optic
nerve.
High blood pressure
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Physical development scoliosis, larger head than normal, smaller
and underweight compared to normal
Brain and CNS migraines, epilepsy, personality change, weakness
of one sign of body

Type 2 Again the clinical features are listed above and symptoms
usually dont develop until around 20 years of age. The systems that are
affected include:
Ears gradual hearing loss, tinnitus and balance problems, nausea
vomiting, vertigo
Facial nerve numbness or weakness of face, facial pain
Brain headaches, vomiting, seizures (fits), disturbed vision,
additionally a tumour (meningioma) can affect any area of the brain
and cause a whole host of problems.
Spine back pain, muscle weakness, unpleasant sensations
Skin tumours
PNS - neuropathy
Eyes - cataracts

Type 2 NF usually presents with bilateral acoustic neuromata, deafness
and sometimes CPA syndrome with facial nerve paresis and cerebellar
ataxia

Tuberous Sclerosis

The clinical features consist of cutaneous features:
Depigmented ash leaf shaped patch which fluoresce under UV light
(Woods light)
Roughened patches of skin (shagreen patches) usually over the
lumbar spine
Adenoma sebaceum (angiofibromata) has a butterfly distribution
over the bridge of the nose and cheeks, which are unusual before
the age of 3 years.

Neurological features:
Infantile spasms (many seizures each lasting a few seconds) and
developmental delay
Epilepsy often focal
Intellectual impairment

Other features:
Fibromata beneath the nails
Dense white areas on the retina from local degeneration
Rhabdomyomata of the heart which usually resolve
Polycystic kidneys
Brain lesions
Heart tumours
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Lung tumours

3. Be aware of the long term health problems

These are listed above in the clinical features but generally include
epilepsy, learning difficulties, tumours and physical deformities of the
spine.

Achondroplasia

1. Be able to outline the clinical features and long term problems

Achondroplasia is an inherited autosomal dominant condition but about
50% are new mutations. Clinical features include short stature from
marked shortening of the limbs, a large head, frontal bossing and
depression of the nasal bridge. The hands are short and broad, there is
marked lumbar lordosis and hydrocephalus sometimes occurs.

Achondroplasia is the most common cause of short limb dwarfism and
incidence generally increases with paternal age. It is thought to affect 1 in
10,000 live births but the homozygous form is lethal so only
heterozygotes are seen. The condition becomes more obvious in the first
year of life. Fingertips may only come down to the iliac crest and the
shortness is most evident in the proximal limb segments. Limbs appear
very broad with deep creases and trident like hands and skulls show a
bulging vault.

Long term complications are:
Difficulty in arm functioning and locomotion
Neurological problems (ataxia, incontinence, pain, quadriparesis)
due to spinal canal stenosis
Early osteoarthritis
Kyphosis
Obesity
ENT abnormalities include increased otitis media, speech delay,
deafness, jaw malocclusion and URTI
Respiratory complications such as apnoea

Generally life expectancy is normal

Foetal Alcohol Syndrome

1. Understand the aetiology, key features and neurodevelopmental
problems
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Fetal alcohol syndrome (FAS) is not a uniform picture but a spectrum of
disorders varying in severity. The three main components of FAS are
facial abnormalities (especially in the mid-facial area), intrauterine growth
retardation and failure to catch up, and mental problems of cognitive
impairment, learning disabilities and impulsiveness.

Alcohol is rated the most common cause of mental and behavioural
problems in children, surpassing Downs syndrome and neural tube
defects. It is estimated to affect 2 per 1000 live births.

Alcohol can cross the placental barrier and cause stunted fetal growth and
weight, damaging neurons and causing brain damage. The exact reason
why alcohol is so damaging is unknown but it is thought the metabolites
can disrupt protein synthesis and alter metabolism of energy substrates.
It has also been suggested that alcohol in excess can lead to fetal
hypoxia.

FAS can affect almost every system so it is important to focus on the
major affects. These are:
Failure of growth weight, length and head circumference are all
reduced and cannot be restored with catch up
Craniofacial abnormalities hypoplasia of the mid-face, flat
philtrum, micrognathia (small jaw), thin upper lip, cleft palate,
posterior rotation of ears, microcephaly and microphthalmia (small
eyes)
MSK and urogenital deformities ranging from contracture of the
finger joints to congenital dislocation of the hip
Cardiac congenital heart disease and VSD
Neurological delirium tremens (alcohol withdrawal), epilepsy and
cerebellar ataxia
Developmental delay and learning difficulties the average IQ of a
child with FAS is 65 compared to the national average of 100. These
children also have hyperactivity and significant problems when they
start school

Fragile X

1. Be aware of syndrome and the risk of learning difficulties

Fragile X syndrome is a genetic syndrome that is the most common
inherited cause of mental retardation and is the second most common
cause of genetically associated mental deficiencies after trisomy 21. The
syndrome is associated with a gene sequence on the x-chromosome
which causes a fault in normal neural development. Diagnosis is often
made in nursery or primary school and problems include autistic like
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behaviour, ADHD and mental retardation. It affects 1 in 4000 males and 1
in 8000 females.

The history

During infancy developmental milestones are normal but at around the
first year of life there are delays in speech and language development, as
well as fine motor skills. As the child ages there becomes increasing
echolalia and a lack of short-term memory or problem solving abilities. IQ
can range anywhere from 20-80 but is more severely affected in males.

Patients develop many neuropsychological features including depression,
general and separation anxiety and oppositional defiant disorder. Autistic
like behaviour is present in around 30% but conversational ability can be
preserved. Behavioural features seen are very common to those of ADHD.
Around 10% of patients will have seizures and OCD is another common
feature.

Physically

Growth is marked by an early growth spurt although adult height is often
average or sub-average. Craniofacial features include a long face thin face
with prominent ears facial asymmetry a large head circumference and a
prominent forehead and jaw. There is dental overcrowding and a high-
arched palate, the ears are typically large and may protrude, and
nystagmus or astigmatism of often present.

The extremities show hyperextensible finger joints, hand calluses, double-
jointed thumbs, a single palmar crease and flat feet. Pectus excavatum
and scoliosis are other common findings. A heart murmur consistent with
mitral prolapse is common, as is macroorchidism.

Marfans Syndrome

1. Know the clinical features and later risks

Marfans syndrome is an inherited condition that affects the bodys
connective tissue. This leads to characteristic skeletal, dermatological,
cardiac, aortic, ocular and dural malformations. The pattern of inheritance
is autosomal dominant with complete penetrance. The incidence is 2-3
per 10,000 of the population; it affects both sexes equally and is equally
prevalent worldwide in all races.

Symptoms: the condition can be asymptomatic. Patients are
disproportionately tall and thin with unusually long arms and legs
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compared to their trunk and a cadaverous physique. They often have
long spidery fingers and toes (arachnodactyly).

Signs:
Skin striae
Heart and blood vessels thoracic duct
dilatation/rupture/dissection, aortic regurgitation, mitral valve
prolapse, mitral regurgitation, abdominal aortic aneurysm, cardiac
dysrhythmia
Eyes lens dislocation, closed angle glaucoma, high myopia
Joints hypermobility, arthralgia, instability
Skeleton pectus excavatum, kyphoscoliosis
Arachnodactyly shown by walkers wrist sign (little finger and
thumb overlap when around wrist) and Steinbergs sign (thumb in
clenched fist overlaps with ulnar border).
Facial characteristics maxillary/mandibular retrognathia, long face
and high arched palate are all important

Prognosis and complications

The average age of death across England and Wales is 70 years with
medical intervention and cardiac stabilising drugs/surgery. The main
cause of death is cardiovascular disease or other vascular complications

PKU

1. Briefly outline the diagnosis and management

This is a rare congenital disorder present from birth and is where the body
is unable to breakdown phenylalanine which then builds up in the blood
and brain. Left untreated high levels of phenylalanine disrupt the normal
development of a childs brain and cause severe learning difficulties.
Those who are most severely affected will never surpass the capability of
a one or two year old.

Treated PKU

Most babies with PKU will appear healthy at birth and if dietary treatment
is started in the first three weeks of life then there should be no
problems. Children and adults affected will suffer problems with certain
high level functioning such as attention, planning and problem solving.
These are usually due to high phenylalanine and will improve with
treatment. Depression, anxiety disorder and phobias are also more
common.

Untreated PKU
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The most common symptom is learning disability and becomes more
severe the longer treatment is delayed. Other symptoms include
behavioural difficulties, very fair hair and skin, eczema and epilepsy

Diagnosis

All newborns are screened for PKU by blood test. Regular blood tests will
then be done to monitor the condition

Management

A low protein diet is key and hence avoiding meats, eggs, fish, cheese,
beer and flour is vital. Daily dietary supplements will be given to help
replace the nutrients normally gained from these foods. Aspartame the
artificial sugar found in diet drinks and foods should be avoided.

Management is with these measures and regular blood tests to assess
blood phenylalanine levels. A drug called sapropterin has been used in
some children and is an enzyme that encourages PAH (the faulty enzyme)
to work. It is however very expensive at over 100,000 per year.

Retts Syndrome

1. Appreciate the presenting features and development regression

Retts syndrome is a pervasive developmental disorder and causes a
childs development to halt and regress. It is the most common of the
pervasive developmental disorders but still only affects around 1 in
20,000 people. The condition often causes sufferers to display autism like
behaviours but differs from classical autism in that there is a period of
normal development. This syndrome almost always affects girls and
presents as follows:

Stage 1 development arrest
Around 6 18 months there is a gross motor developmental delay,
loss of eye contact and waning interest in play. Hypotonia may
occur and hand wringing is common

Stage 2 rapid developmental regression
Aged 1 4 years there is a deterioration of head circumference,
loss of verbal communication, autism like behaviours, loss of social
interactions, vacant spells, breath holding, irritability and disturbed
sleep

Stage 3 stationary phase
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Aged 2 10 years persisting motor and intellectual impairment but
may be improvement in social interactions and communication
Poor weight gain and scoliosis

Stage 4 late motor deterioration
At the age of 10 there is dystonia, hypertonia and Parkinsonism.
Walking may cease and fitting frequency decreases.
Quadriparesis, muscle wasting, growth retardation and breathing
abnormalities.

Neonatology

Congenital Heart Disease

1. Know the incidence and most common congenital heart lesions
presenting in the neonatal period

This is all discussed in the cardiac section. I assume that the lesions that
present in neonates will be the most serious which include duct
dependent lesions, transposition of the great arteries, aortic valve
stenosis and hypoplastic left heart syndrome. Severe acyanotic lesions
can also present here.

2. Know the conditions that present with cyanosis and those that are
acyanotic

Basically cyanotic lesions are those that involve right to left shunts
(Tetralogy of Fallot, transposition of great arteries) and common mixing
(AVSD complete). Acyanotic lesions will generally be those with a left to
right shunt (VSD, ASD and persistent arterial duct) and outflow
obstruction if not severe (PS and AS). Severe outflow obstruction will
present with collapse and shock.

3. Identify the clinical and radiological features of common congenital
heart disease lesions, i.e. VSD, PDA, pulmonary stenosis, ASD, Tetralogy
of Fallot, Coarctation of the aorta and transposition of the great vessels,
AVSD

Covered in detail in the cardiac section

4. Know the common congenital heart lesions associated with Down
Syndrome and Turner Syndrome

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Down syndrome is associated with AVSD and VSD with 30% incidence.
Turner syndrome is associated with aortic valve stenosis and Coarctation
of the aorta in 15%.

Group B Streptococcus (GBS) Infection

1. Know the risk factors for neonatal invasive GBS

Around 10-30% of pregnant women have faecal or vaginal carriage of
group B streptococci. The organism can cause both early and late onset
sepsis. In early onset sepsis (first 48 hours) the newborn baby has
respiratory distress and pneumonia. In the UK approximately 0.5-1 in
1000 babies have early-onset infection; most have pneumonia only, but it
may cause septicaemia and meningitis. The severity of the neonatal
presentation depends on the duration of the infection in utero. Mortality in
babies with a positive blood or CSF culture is up to 10%. Up to half of
infants born to mothers who carry group B streptococcus are colonised on
their mucous membranes or skin. Some of these babies develop late
onset disease (>48 hours after birth), up to 3 months of age. It usually
presents with meningitis, or occasionally with focal infection e.g.
osteomyelitis or septic arthritis.

In colonised mothers risk factors for infection are:
Preterm babies
Prolonged rupture of membranes
Maternal fever during labour (>38
o
C)
Maternal chorioamnionitis (inflammation of fetal membranes
chorion and amnion)
Previously infected infant

2. Know the antenatal and postnatal management of known GBS positive
mums and their babies

Prophylactic intrapartum antibiotics given intravenously to the mother can
prevent group B streptococcus infection in the newborn baby. There are
two approaches to the use of intrapartum antibiotics either universal
screening at 35-38 weeks to identify mothers who are carriers or a risk
based approach in which mothers who are high risk are given antibiotics.

The infant will usually present with respiratory distress, apnoea and
temperature instability. A chest x-ray should be performed together with
a septic screen. A full blood count is performed to detect a neutropenia as
well as blood cultures. An acute-phase reactant is helpful (CRP) but takes
12-24 hours to rise. Antibiotics are started immediately without waiting
for cultures and are usually broad spectrum amoxicillin or benzylpenicillin.
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If cultures are negative and clinical signs return to normal then stop after
48 hours. If positive then continue, check for neurological signs and
examine + culture the CSF.

Neonatal Infection

1. List the common viral and bacterial pathogens causing disease in the
newborn

2. List the key features of the following common viral illnesses affecting
the fetus/newborn: CMV, Rubella, Toxoplasmosis

Cytomegalovirus

This is usually transmitted via saliva, genital secretions or breast milk and
more rarely via blood products, organ transplants and transplacentally.
The virus causes mild or subclinical infection in normal hosts. In
developed countries, about half of the adult population show serological
evidence of past infection. In developing countries, most children have
been infected by 2 years of age, often via breast milk. In the
immunocompromised and the fetus, CMV is an important pathogen.

CMV is the most common congenital infection, affecting 3-4 per 1000 live
births in the UK. In Europe 50% of pregnant women are susceptible to
CMV. About 1% of susceptible women will have a primary infection during
pregnancy, and in about 40% of them the infant becomes infected. The
infant may also become infected following an episode of recurrent
infection in the mother, but this is much less likely to damage the fetus.
When an infant is infected:
90% are normal at birth and have normal development
5% have clinical features at birth such as hepatosplenomegaly and
petechiae, most of whom will have neurodevelopmental disabilities
such as sensorineural hearing loss, cerebral palsy, epilepsy and
cognitive impairment
5% develop problems later in life, mainly sensorineural hearing loss

Infection in the pregnancy woman is usually asymptomatic or causes a
mild non-specific illness. There is no CMV vaccine and pregnant women
are not screening for CMV. Antiviral therapy for infected infants with
ganciclovir is a potential treatment of the future.

Rubella

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The diagnosis of maternal infection must be confirmed serologically as
clinical diagnosis is unreliable. The risk and extent of fetal damage are
mainly determined by the gestational age at the onset of maternal
infection. Infection before 8 weeks gestation causes deafness, congenital
heart disease and cataracts in over 80%. About 30% of foetuses of
mothers infected at 13-16 weeks gestation have impaired hearing;
beyond 18 weeks gestation the risk to the fetus is minimal. This is
preventable with the MMR vaccine.

Toxoplasmosis

Acute infection with this protozoan parasite may result from the
consumption of raw or undercooked meat and from contact with the
faeces of recently infected cats. In the UK fewer than 20% of pregnant
women have had past infection. Transplacental infection may occur during
the parasitaemia of a primary infection, and about 40% of foetuses
become infected. In the UK the incidence of congenital infection is only
about 0.1 per 1000 live births and most infected infants are
asymptomatic. About 10% have clinical manifestations of which the most
common are:
Retinopathy, an acute fundal chorioretinitis which sometimes
interferes with vision
Cerebral calcification
Hydrocephalus
These infants have long term neurological disabilities. Infected newborns
are usually treated for 1 year with pyrimethamine and sulfadiazine.

3. Outline the key management steps in the care of the HIV positive
mother and her baby

Diagnosis in children over 18 months is by detecting HIV antibodies. In
children below 18 months they may have these antibodies from their
mother and does not necessarily prove infection. Here HIV PCR is needed
within the first 3 months of life. Clinical features in an untreated child are
lymphadenopathy, hepatosplenomegaly, recurrent fever, parotid swelling,
thrombocytopenia, or serious recurrent infections eventually all leading to
AIDS.

Treatment for the child should be based on clinical status, viral load and
CD4 count but infants should all start ART shortly after diagnosis because
they are at a high risk of disease progression. As in adults a combination
of three or four drugs are used. PCP prophylaxis is given in the form of
co-trimoxazole. Other aspects of management include:
Immunisations including hepatitis A, B, VZV and influenza should be
given. BCG should not be given as it is a live vaccine and may lead
to disseminated disease
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Multidisciplinary management in a family clinic
Regular follow up with attention paid to weight, neurodevelopment
and clinical signs of disease. In adolescents the importance of safe
sex, fertility and pregnancy need discussing.

Vertical transmission is more likely with a high viral load and advanced
disease. Breast feeding increases the risk to 25-40% alone. However the
risk can be reduced to <1% by:
Use of maternal antenatal, perinatal and postnatal antiretroviral
drugs to achieve an undetectable maternal viral load at the time of
delivery
Avoidance of breast feeding
Active management of labour and delivery to avoid prolonged
rupture of membranes or unnecessary instrumentation
Pre-labour caesarean section if the mothers viral load is detectable
close to the time of delivery.
In some parts of the world avoiding breast feeding is not safe for the baby
so the mother needs antiretroviral therapy, as does the child.

4. List the main risk factors for neonatal infection

Infection is common in preterm infants and they are at increased risk of
infection because no IgG has been transferred across the placenta until
the last trimester. Another cause of increased infection is that there is
often infection around the cervix being the cause of preterm labour. Many
other infections occur days after birth and are hospital derived.

There is an increased risk of infection if there is prolonged rupture of
membranes (>18 hours). Later infections are most likely to be
environmental and come from indwelling lines or catheters.

5. Know and recognise the presenting symptoms and signs of neonatal
infection including common sexually transmitted infections

Syphilis

This is very rare in the UK but if caught when pregnant, leads to a very
high infant mortality shortly after birth. Symptoms of a newborn infection
include failure to thrive, fever, irritability, no bridge to nose, early rash
(small blisters), larger rash, rash of the mouth, anus and genitalia, watery
discharge from the nose, splenomegaly, hepatomegaly, bone
inflammation. Complications include blindness, deafness, deformities of
the face and neurological problems. Treated with penicillin

Chlamydia
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Usually affects the eyes causing conjunctivitis along with swelling of the
eyelids at 1-2 weeks of age but may present shortly after birth. A
pneumonia may also develop at 4-6 weeks of age. Treated with oral
erythromycin.

Gonorrhoea

Associated with chorioamnionitis and increased risk of premature labour.
40% of untreated maternal cases develop ophthalmia neonatorum
presenting with purulent discharge, lid swelling and corneal haze within 4
days of birth. This needs treating urgently to prevent blindness. Treated
with penicillin or a third generation cephalosporin

Hepatitis B/C

There is a higher risk of chronic hepatitis and all the associated problems.
Treatment is passive immunisation within 24 hours of birth.

Herpes

Occurs in between 1 in 3000 and 20,000 live births and is usually
transmitted via an infected birth canal. Infection is more common in
preterm infants and presentation is anywhere up to 4 weeks of age with
localised herpetic lesions on the skin or eye, or with encephalitis or
disseminated disease. Mortality due to local disease is low but even with
treatment disseminated disease has a high mortality with considerable
morbidity if not fatal. Treatment is ideally caesarean and antiviral
treatment.

6. Understand that bilious vomiting in the newborn is pathological and list
some common causes

This is mostly discussed in the GI section and surgery section. Causes
include:
Intussusception
Obstruction
Volvulus
Malrotation
Tumours
Hirschprungs disease
Constipation/meconium ileus
Basically any disease that causes obstruction below the duodenum will
cause bilious vomiting.

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7. Have a basic understanding of the treatment of neonatal bacterial
infections

This is a bit vague so I will include the treatments in each section on
neonatal infection

8. Recognise that neonatal infection results in significant morbidity and
mortality especially in preterm infants

It does.

9. Understand what is meant by an infection screen in newborn infants

I assume the objective here is referring to a sepsis screen in infants
where sepsis is being considered. If so then this should at least include:
FBC
U&Es with glucose
Blood culture
Chest radiograph
Lumbar puncture
Urine culture and dip
CRP
CT or MRI (if suspected meningitis)

The symptoms of sepsis are often non-specific so it is important to look
out for fever, poor feeding, vomiting, apnoea, bradycardia, respiratory
distress, abdominal distension, jaundice, neutropenia,
hypo/hyperglycaemia, shock, irritability, seizures, lethargy, drowsiness
etc

10. Interpret common investigations used for newborn infection, i.e. chest
x-rays, lumbar puncture, CRP

Self explanatory. CRP should be less than 5

IUGR

1. Define intrauterine growth retardation (IUGR) and how this differs from
small for gestational age (SGA)

Small for gestation age means a child that is smaller in size than normal
for the babys sex and gestational age. This is most commonly defined as
being below the 10
th
centile. The majority of these infants are normal but
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small. The incidence of congenital abnormalities and neonatal problems is
higher in those whose birth weight falls below the second centile. These
children are generally genetically programmed to be this small but this
category does also include children who have failed to meet their genetic
size, i.e. children with IUGR.

In comparison to above, IUGR is where infants have been asymmetrically
growth restricted so are less than their genetically predetermined size.
The weight and abdominal circumference will lie on a lower centile than
that of the head due to the brains development taking priority over other
structures (at the expense of liver glycogen and skin fat stores). This
form of growth restriction is associated with utero-placental dysfunction
secondary to maternal pre-eclampsia, multiple pregnancy, maternal
smoking or may be idiopathic.

2. List the common causes of IUGR

To elaborate on the causes above, other identified factors can be broken
down into maternal factors:
Increased maternal age
Hypertension or heart disease
Diabetes
Alcohol abuse
Use of drugs including cannabis
Maternal smoking (30-40% of cases)
Renal disease
Coeliac disease (untreated)
Thrombophilia
Drugs include warfarin, steroids and phenytoin

Placental causes:
A small placenta that cannot supply the needed nutrients
Cell death of the placenta
Pre-eclampsia

Fetal causes:
Multiple pregnancy (15-20% of twins)
Chromosomal abnormalities i.e. Down syndrome, Edwards
syndrome, Turner syndrome or Pataus syndrome
Congenital defects associated with SGA
Intrauterine infection i.e. CMV, toxoplasmosis, rubella or syphilis

3. Understand the short and long term complications of IUGR

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When a small fetus is diagnosed the risk of a chromosomal defect needs
to be assessed and can be as high as 19%. The risk is higher when
restricted growth is associated with structural abnormalities. To manage
this there should be a detailed ultrasound examination, assessment of risk
of delivery vs. pregnancy and assessment of placental insufficiency with
Doppler.

There is a question of when to deliver but there is no evidence that early
delivery to pre-empt severe hypoxia and acidosis reduces any adverse
outcome. When end diastolic blood flow is present in the umbilical artery
then delay delivery until 37 weeks. If flow is absent or reversed close
observation along with steroids are needed.

Babies who have been starved in utero tend to be hungry and feed
enthusiastically to gain weight and as an adult then can be expect to grow
to a normal or slightly smaller than average stature. If there was slow
head growth before 26 weeks then they may show significant
developmental delays at 4 years. An extremely low birth weight confers a
high risk of perinatal mortality and neonatal morbidity. Studies have
shown an infant less than 2.5kg birth weight have a three times increased
risk of coronary artery disease later in life. There is also an increased risk
of hypertension, type 2 DM and autoimmune thyroid disease.

Neonatal Respiratory Distress

1. Know the presenting features, risk factors and outline treatment for
common causes of neonatal respiratory distress, i.e. transient tachypnoea
of the newborn, respiratory distress syndrome, congenital pneumonia,
congenital abnormalities (e.g. heart disease, diaphragmatic hernia),
septicaemia and meconium aspiration

Signs of respiratory distress include:
Tachypnoea >60 breaths/min
Laboured breathing, with chest wall recession and nasal flaring
Expiratory grunting
Cyanosis if severe

Transient tachypnoea of the newborn

This is by far the commonest cause of respiratory distress in term infants.
It is caused by delay in the reabsorption of lung fluid and is more
common after birth by caesarean section. The chest x-ray may show fluid
in the horizontal fissure. Additional ambient oxygen may be required. The
condition usually settles within the first day of life but can take several
days to resolve completely. This is a diagnosis made after consideration
and exclusion of other causes.
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Respiratory distress syndrome

This is much more common in immaturity (<28 weeks gestation) and is
caused by a deficiency in surfactant and an immature respiratory centre
in the brain. Surfactant is produced by type 2 alveolar cells and lowers
the surface tension of the alveolar air sacs. In term infants it may have a
genetic cause or occur in infant born to diabetic mothers. It is also seen in
meconium aspiration.

Treatment is with antenatal steroids in 2 doses within 48 hours before
delivery when the labour is under 34 weeks gestation. This leads to lung
maturation and surfactant production. The second therapy is artificial
surfactant that can reduce deaths by over 40%.

Infants with RDS develop signs of respiratory distress within 4 hours
postpartum. It is characterised by grunting which is breathing out against
a closed epiglottis in order to maintain positive pressure in the airways.

Congenital pneumonia

Prolonged rupture of the membranes, chorioamnionitis and low birth
weight predispose to pneumonia. Infants with respiratory distress will
usually require investigation to identify infection. Broad spectrum
antibiotics are started early until the infection screen comes back.

Heart disease

There are many lesions of the heart that can lead to respiratory distress
and these are mentioned in the cardiac section. RD is usually caused by
the more severe lesions such as HPLH syndrome but can be due to any
cause.

Diaphragmatic hernia

Covered in its own objective a herniation of abdominal contents usually
through the left side leading to hypoplasia of one or both lungs.

Septicaemia

Any severe infection will lead to a child have respiratory distress. This is
mostly caused by group B strep and is mentioned above.

Meconium aspiration

Meconium is passed before birth by 8-20% of babies. It is rarely passed
by preterm infants and occurs increasingly with a greater gestational age,
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affecting 20-25% of deliveries by 42 weeks. It may be passed in response
to fetal hypoxia and at birth these infants may inhale thick meconium.
Asphyxiated infants may start gasping and aspirate meconium before
delivery. Meconium is a lung irritant and result in both mechanical
obstruction and chemical pneumonitis (destroys surfactant), as well as
predisposing to infection. The lungs become over inflated, accompanied
by patches of collapse and consolidation and there is a high incidence of
air leak leading to pneumothorax and pneumomediastinum. Artificial
ventilation is often required but infants may develop persistent pulmonary
hypertension of the newborn which makes it difficult to achieve adequate
oxygenation despite high pressure ventilation. Severe meconium
aspiration is associated with significant morbidity and mortality.

Prematurity

1. List the common problems associated with prematurity and have a
general understanding of their presentation and management, include:
respiratory distress syndrome, necrotising enterocolitis, infection,
hypoglycaemia, temperature control, apnoea of prematurity, retinopathy
of prematurity and intraventricular haemorrhage (IVH).

Respiratory distress syndrome

Mentioned above

Necrotising enterocolitis

This was mentioned in the gastro section. It is a serious illness mainly
affecting preterm infants in the first few weeks of life. It is associated with
bacterial invasion of the ischaemic bowel wall. Preterm infants fed cows
milk formula are more likely to develop this condition than if they are fed
only breast milk. The infant stops tolerating feeds, milk is aspirated from
the stomach and there may be vomiting which may be bile stained. The
abdomen becomes distended and the stool sometimes contains fresh
blood. The infant may rapidly become shocked and require artificial
ventilation because of distension and pain. The disease can be seen on x-
ray and may rapidly progress to bowel perforation. Treatment is to stop
oral feeding and give broad spectrum antibiotics. Parenteral nutrition is
always needed and artificial ventilation and circulatory support are often
needed. Surgery is performed for bowel perforations. There is a 20%
mortality rate.

Infection

Mentioned previously but is due to a lack of IgG as it is not transferred
until the last trimester.
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Hypoglycaemia

This is particularly likely in the first 24 hours of life in babies with IUGR,
who are preterm, born to mothers with diabetes, are large for date,
hypothermic, polycythaemic or ill for any reason. Growth restricted and
pre-term infants have poor glycogen stores whereas the infants of a
diabetic mother have sufficient glycogen stores but hyperplasia of the
islet cells causing high insulin levels. Symptoms include jitteriness,
irritability, apnoea, lethargy, drowsiness and seizures.

Many babies can tolerate low glucose levels due to the use of lactate and
ketones but a level above 2.6mmol/L is desirable for good
neurodevelopment, although many babies have levels transiently below
this in the first 24 hours. Hypoglycaemia can be prevented by early and
frequent feeding with breast milk and regular monitoring if at risk. If an
asymptomatic infant has two levels below 2.6 or one below 1.6 then IV
infusion is given. Abnormal results should be confirmed in the laboratory
and high IV concentrations should be given centrally to avoid peripheral
skin necrosis. Glucagon and hydrocortisone may also be given.

Temperature control

Hypothermia causes increased energy consumption and may result in
hypoxia and hypoglycaemia, failure to gain weight and increased
mortality. Preterm infants are particularly vulnerable as:
They have large surface area relative to volume
Their skin in thin and more heat permeable
They have little subcutaneous fat
They are often nursed naked and cannot conserve heat by curling
up or shivering
There is a neutral temperature range in which an infants energy
consumption is at a minimal level and this is high in premature babies.
This temperature can be maintained by using an incubator.

Apnoea of prematurity

Episodes of apnoea and bradycardia and desaturation are common in very
low birth weight infants until they reach about 32 weeks gestational age.
Bradycardia may occur either when an infant stops breathing for over 20-
30 seconds or when breathing continues but against a closed glottis. An
underlying cause (hypoxia, infection, anaemia, electrolyte disturbance,
hypoglycaemia, seizures, heart failure or aspiration) needs to be excluded
but in many causes it is due to central respiratory control. Breathing will
usually start again after gentle physical stimulation and treatment is with
caffeine and potentially CPAP.

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Retinopathy of prematurity

This affects developing blood vessels at the junction of the vascular and
non-vascularising retina. There is vascular proliferation which may
progress to retinal detachment, fibrosis and blindness. It was initially
recognised that the risk is increased by uncontrolled use of high
concentration oxygen. This occurs in around 35% of very low birth weight
infants and laser therapy is used to reduce visual impairment. An
ophthalmologist will screen the childs eyes every week. Severe bilateral
visual impairment occurs in about 1% of very low birth weight infants.

Intraventricular haemorrhage (IVH)

This is common in very underweight children (60-70% if 500-750g) and
presents in the first few days of life with apnoea, lethargy, poor muscle
tone and sleepiness. This may progress to a coma and there may also be
increased ICP with a bulging fontanelle. Management is supportive with
correction of acidosis, anaemia and hypotension. Fluid treatment may be
needed along with medicine to decrease ICP. The definitive treatment is a
ventriculoperitoneal shunt.

2. Understand the principles and methods of delivering good nutrition to
the premature newborn

Preterm infants have a high nutritional requirement because of their rapid
growth. Preterm infants at 28 weeks gestation double their weight in 6
weeks and treble it in 12 weeks, whereas term babies only double it in
4.5 months and treble it in 1 year.

Infants of 35-36 weeks are mature enough to such and swallow milk but
less mature infants need NG tube feeding. Even in very preterm infants
enteral feeds are introduced quickly and should be supplemented with
phosphate, protein and calories. In very immature or sick infants
parenteral nutrition is often required and this is usually given through a
central venous catheter inserted peripherally. However these lines carry a
significant risk of infection so should be used cautiously. Poor bone
mineralisation was previously common but is prevented by provision of
adequate phosphate, calcium and vitamin D, Because iron is mostly
transferred in the last trimester, preterm babies have low iron stores so
require supplementation at several weeks of age and after discharge. Also
remember that breast milk is best if available as it provide antibodies to
the child that they may have not received if preterm.

3. Understand the importance of breast milk to the premature infant

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Advantages to the infant
Provides ideal nutrition for infants during the first 4-6 months of life
Is life saving in developing countries
Reduces the risk of GI infection and, in preterm infants, of
necrotising enterocolitis
Enhances the mother-child relationship
Reduces the risk of diabetes, hypertension and obesity in later life
More easily digested than other sources

4. Briefly discuss the impact of prematurity on lung development and the
risk of chronic lung disease and other respiratory morbidity

Respiratory distress syndrome is mentioned above and is the major
problem associated with the respiratory system and prematurity. This
condition leads to the need for ventilation and oxygen support in many
cases. If on these therapies long term then Bronchopulmonary dysplasia
(chronic lung disease) will develop.

Bronchopulmonary Dysplasia

This describes infants who have an oxygen requirement at post menstrual
age of 36 weeks. The lung damage comes from pressure and volume
trauma from artificial ventilation, oxygen toxicity and infection. The chest
x-ray is characteristic and shows widespread areas of opacification,
sometimes with cystic changes. Some infants need prolonged ventilation
but most are weaned onto CPAP followed by additional ambient oxygen,
sometimes over months. Corticosteroid therapy may aid early weaning.

Pneumothorax

In RDS air from the over distended alveoli may track into the interstitum
resulting in pulmonary interstitial emphysema. In up to 10% of infants
ventilated for RDA, air leaks into the pleural cavity and causes a
pneumothorax. When this occurs the infants oxygen requirements usually
increase and the breath sounds and chest movement on the affected side
will reduce. To avoid this infants are ventilated at the lowest pressure to
achieve good oxygenation. Treatment of a pneumothorax involves chest
x-ray and insertion of a chest drain.

5. Outline the neurodevelopmental complications of prematurity

Along with the complications of blindness and deafness mentioned above,
there are also several other problems associated with prematurity. The
first is cerebral palsy due to a preterm brain injury, intraventricular
haemorrhage and raised ICP. At school age up to 50% of children born at
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under 28 weeks need additional educational support. Learning difficulties
are often associated with the deafness or blindness but can be a separate
condition.

The Normal Newborn

1. Understand the respiratory and cardiovascular changes that occur
during the transition from fetus to newborn

Circulatory changes at birth

In the fetus the left atrial pressure is low as relatively little blood returns
from the lungs. The pressure in the right atrium is higher than in the left
as it receives all the systemic venous return including blood from the
placenta. The flap valve of the foramen ovale is held open and blood flows
across the atrial septum into the left atrium and then into the left
ventricle which in turn pumps it to the upper body.

With the first breaths the resistance to pulmonary blood flow falls and the
volume of blood flowing through the lungs increases six-fold. This results
in a rise in the left atrial pressure. Meanwhile the volume of blood
returning to the right atrium falls as the placenta is excluded from the
circulation. The change in the pressure difference causes the flap valve of
the foramen ovale to close. The ductus arteriosus, which connects the
pulmonary artery to the aorta in fetal life, will normally close within the
first few hours or days. Some babies with congenital heart lesions rely on
this circulation and may become very ill when it begins to close.

Respiratory changes

Lung liquid is reabsorbed chest compression during birth squeezes out a
third and the release of adrenaline promotes reabsorption of the rest.
Surfactant is released, triggered by adrenaline and steroids, and synthesis
is also begun. A fall in the capillary pressure of the lungs occurs with
expansion of the alveoli and the vasodilatory effect of oxygen. Respiratory
movements of the chest commence.

2. Know the important time frames for the newborn to: pass urine, open
bowels and regain birth weight

Bowels usually within 6 hours or before birth but up to 24 hours
Bladder up to 24 hours
Weight newborns lose around 7-10% of their weight but should regain it
in about 2 weeks

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3. Understand the importance of maternal bonding and breast feeding

This is very important in terms of attachment and psychological
development. It also helps the mother deal with post natal blues. The
benefits of breast feeding have already been mentioned. Often babies are
now nursed by kangaroo care. Immediately after birth the baby is cleaned
and then put on the mothers abdomen and covered in a towel. The baby,
over 60 minutes, will move up the abdomen and begin to suckle
effectively. This promotes strong bonding.

4. Understand the importance of vitamin K prophylaxis

Vitamin K deficiency may result in haemorrhagic disease of the newborn.
This disorder can occur early, during the first week of life, or late, from 1
to 8 weeks of age. In most affected infants the haemorrhage is mild, such
as bruising, haematemesis and melaena, or prolonged bleeding of the
umbilical stump or after a circumcision. However, some suffer from
intracranial haemorrhage, half of whom are permanently disabled or die.

Breast milk is a poor source of vitamin K whereas infant formula milk has
a much higher vitamin K content. Haemorrhagic disease of the newborn
may occur in infants who are wholly breast fed but not if fed with an
instant formula. Infants of mothers taking anticonvulsants, which impair
the synthesis of vitamin K-dependent clotting factors, are at increased
risk of haemorrhagic disease, both during delivery and soon after birth.
Infants with liver disease are also at increased risk.

The disease can be prevented if vitamin K is given IM and in the UK it was
widely given to all newborns immediately after birth. After a scare about
the link of the IM injection to childhood cancer (no proof was found)
mother may request an oral vitamin K alternative. However three doses
of this are needed over 4 weeks as this route is less reliable. Mothers on
anticonvulsants need prophylaxis from 36 weeks and the baby needs the
IM vitamin K injection.

5. Outline the important screening methods used during infancy, namely
newborn examination, hearing screening, the Guthrie card and antenatal
screening for newborn disorders

Routine examination of the newborn infant

The purpose of this examination is to detect any congenital abnormalities
not already identified at birth, check for potential problems arising from
maternal disease or familial disorders, and to provide an opportunity for
the parents to discuss any questions about their baby.
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Routine examination should include:
Birth weight, gestational age and centile
General observation of posture and movement
The head circumference and centile
The fontanelle size is variable, the sagital suture is often
separated and the coronal sutures may be overriding. A tense
fontanelle when there is no crying may indicate increased ICP.
The face to look for any syndromes
If plethoric or pale check haematocrit for anaemia or
polycythaemia
Jaundice within 24 hours of birth requires further investigation
The eyes check for red reflex and if absent there may be
cataracts, a retinoblastoma or a corneal opacity. The reflex is not
present in infants with pigmented skin but vessels can be visualised
The palate visually and physically inspected for cleft palate
Breathing and chest wall movement
Auscultation of heart normal rate is 110-160bpm but can drop to
85bpm during sleep
Palpating the abdomen liver normally extends 1-2cm below costal
margin, the spleen tip may be palpable, as may the kidney on the
left side
Femoral pulses reduced is Coarctation of the aorta, increased is
patent ductus arteriosus
Genital and anus check for patency then check for presence of
testis in the scrotum in boys
Muscle tone
Back and spine
Hips check for developmental dysplasia of the hips (DHH). Leave
until last as is uncomfortable. This is explained later.

Biochemical screening (Guthrie test)

Biochemical screening is performed on every baby. A blood sample,
usually by heel prick, is taken when feeding has been established on day
5-9 of life. In the UK all infants are screened for:
Phenylketonuria
CF
Hypothyroidism
Haemoglobinopathies (sickle cell and thalassaemia)
MCAD (medium-chain acyl-CoA dehydrogenase) deficiency. A rare
inborn error of mitochondrial fatty acid metabolism causing acute
illness and hypoglycaemia following fasting, which may also present
as an ALTE.

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Screening for CF is performed by measuring the serum immunoreactive
trypsin which is raised if there is pancreatic duct obstruction. If raised
then DNA analysis is also performed to reduce the false-positive rate.

Newborn hearing screening

Universal screening has been introduced in the UK to detect severe
hearing impairment in newborn infants. Early detection and intervention
improves speech and language. This is done by evoked otoacoustic
emission (an earphone produces a sound which evokes an echo or
emission from the ear if cochlear function is normal) or automated
auditory brainstem response and analysis of the EEG (a computer analysis
of waveforms in response to auditory stimulation). The disadvantages of
EOAE are that there can be many false positives in the first 24 hours due
to amniotic fluid in the ear canal, and they test cochlear function rather
than hearing.

Distraction testing was the mainstay of hearing testing but has mostly
been replaced by universal screening. It is now used as a screening tool
for children who have not been fully assessed and can be performed at 7-
9 months. The test relies on a baby locating and turning appropriately
towards sound.

Visual reinforced audiometry is useful in the age range of 10 to 18
months, although it can be used between the ages of 6 months and 3
years. Hearing thresholds are established using visual rewards to
reinforce the childs head turn to stimuli of different frequencies.

Audiometry can be done in children who are able to understand and
cooperate with instructions, generally after 4 years.

Vision

A newborns vision is limited to about 6/200. The peripheral retina is well
developed but the fovea is immature and the optic nerve unmyelinated.
Well focused images on the retina are vital for the development of visual
acuity and any obstruction to form this, e.g. a cataract, will interfere with
optic pathway development. Many newborns can fix and follow
horizontally. By the age of 6 weeks both eyes should move together when
following a light source. By 12 weeks no squint should be present. Adult
levels of vision are reached by 3-4 years.

Antenatal screening

During pregnancy there will be a number of blood tests to check for
problems along with an ultrasound scan. Infection will be checked for
along with rhesus disease and pre-eclampsia. Ultrasound is generally
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used to show the babies measurements, the number of babies, an
abnormalities (particularly the head and spine), to show the position of
the baby and to check for normal development. However ultrasound can
be used to find a whole host of conditions including cleft lip, cardiac
problems, spinal bifida, bowel problems and Down syndrome.

Amniocentesis and chorionic villus sampling are available but are not
carried out routinely.

6. Understand the physiology, risk factors and treatment of jaundice
including prolonged jaundice especially in respect to early recognition of
biliary atresia

See the jaundice section for details on all of this.

7. Appreciate that babies are discharged early and severe jaundice may
present in the community setting

Again see the jaundice section. Jaundice can present immediately (more
serious) or after several days to weeks. This can be normal in most babies
but needs monitoring.

Common Newborn Problems

1. Be able to give an outline of common newborn conditions including:
dermatological conditions (erythema toxicum, Mongolian blue spots,
capillary haemangiomas), physiological jaundice, feeding difficulties, small
for gestational age, birth trauma (including cephalohaematoma and
brachial plexus injury) and the sticky eye

Erythema toxicum

Also called neonatal urticaria, this is a common rash appearing at 2-3
days of age and consisting of white pinpoint papules at the centre of an
erythematous base. This fluid contains eosinophils and the lesions are
concentrated on the trunk; they come and go at different sites.

Mongolian blue spots

These are blue or black macular discoloration at the base of the spine and
on the buttocks; occasionally they occur on the legs and other parts of
the body. Usually but not invariably in Afro-Caribbean or Asian infants.
They fade slowly over the first few years and are of no significance unless
misdiagnosed as bruising.
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Capillary haemangiomas

Pink macules on the upper eyelids, mid-forehead and nape of the neck
are common and arise from distension of the dermal capillaries. Those on
the eyelids gradually fade over the first year; those on the neck become
covered in hair.

Physiological jaundice

Mentioned in the jaundice section and is normal due to several factors
explained in the jaundice section.

Feeding difficulties

This could be due to a variety of reasons which include cleft palate or lip,
being premature and unable to suck/swallow, poor attachment to the
nipple due to poor technique, gastro-oesophageal reflux (described
above) etc.

Small for gestational age

This is discussed previously but can be normal due to genetics or from
IUGR.

Birth trauma (cephalohaematoma and brachial plexus injury)

A cephalohaematoma is a haematoma from bleeding below the
periosteum, confined within the margins of the skull sutures. It usually
involves the parietal bone. The centre of the haematoma feels soft and it
resolves over several weeks.

A brachial plexus injury usually results from traction of the brachial nerve
roots. This may occur in breech deliveries or with shoulder dystocia
(delivery shoulders first). Upper nerve roots C5 and C6 injury results in
Erb palsy (affected arm lies straight, limp and with the hand pronated and
the fingers flexed. Most resolve completely but should be referred if not
resolved by 2-3 months. Most recover by 2 years.

Sticky eye

A common condition affected neonates in the first 48 hours after birth.
There is yellow discharge from the corner of the eye and formation of a
crust. This is sometimes when the very small tear ducts become blocked
by fluid and debris during birth. Newborns struggle to produce tears in the
first few months so clearage of this blockage is hard for them. The eye
should be bathed frequently with sterile water to help clear it.
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ABO/Rhesus Incompatibility

1. Outline the basis of Rhesus and ABO incompatibility for the newborn,
the risks to the newborn and have an understanding of the management

ABO

This is now more common than rhesus haemolytic disease (probably due
to anti-D Ig). Most ABO antibodies are IgM and do not cross the placenta
but some group O women have an IgG anti-A-haemolysin in the blood
which can cross the placenta and haemolyse the red cells of a group A
infant. Occasionally a group B infant is affected by anti-B haemolysins.
Haemolysis can cause severe jaundice but is usually less severe than in
rhesus disease, hepatosplenomegaly is absent. The direct antibody test,
which demonstrates antibody on the surface of red cells, is positive. The
jaundice usually peaks in the first 12-72 hours.

Rhesus

Affected infants are usually indentified antenatally and monitored and
treated if necessary. The birth of a severely affected infant with anaemia,
hydrops and hepatosplenomegaly with rapidly developing severe jaundice
has now become rare. This condition occurs when a mother is rhesus-
negative and gives birth to a rhesus-positive child. This sensitises her to
rhesus antigens and the mother produces antibodies. If she gets pregnant
with a rhesus positive child again then the IgG antibodies will attack the
child. This can be avoided by anti-D Ig in pregnancy.

Management for both

Diagnosis is by blood tests, biochemistry for jaundice and an antibody
screen. Treatment is similar to that of rhesus incompatibility. Before birth
options include intrauterine transfusion or early induction of labour when
pulmonary maturity has been obtained. Mothers themselves may also
undergo plasma exchange to lower their circulating antibodies by 75%.
After birth treatment depends on the severity of the condition and may
simply involve treating the jaundice with phototherapy. However there
may be cause for transfusion with red cells and also bicarbonate to
correct an acidosis. Complications are to do with high bilirubin levels.

2. Understand the importance of severe jaundice in the immediate
newborn period, kernicterus and later neurodevelopmental problems

This is all covered in the jaundice section
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Congenital Abnormalities

1. List important risk factors for congenital abnormalities and the
importance of maternal health impacting on these

A large number of congenital abnormalities are due to genetic conditions
which cannot be controlled by health or by reducing other risk factors.
There are a huge number of risk factors for abnormalities so it is
impossible to list them all here. A few that are important include:
Maternal and paternal age
Infections (TORCH toxoplasmosis, others, rubella, CMV and HSV)
Toxins e.g. alcohol, smoking, mercury or prescription drugs
Dietary deficiencies e.g. folic acid

2. Be able to describe the common features of the more common
congenital conditions presenting in the newborn period including: Down
Syndrome (trisomy 21), CHARGE, VACTERAL

Down syndrome

This has been discussed in detail in its own section above.

CHARGE

This is a genetic syndrome that is an acronym to describe a set of unusual
congenital features seen in many newborn children. The letters stand for
Coloboma of the eye (a hole in one of the eyes structures e.g. the iris,
retina, choroid or optic disc), Heart defects, Atresia of the nasal choanae,
Retardation of growth and/or development, Genital and/or urinary
abnormalities and Ear abnormalities and deafness. This syndrome is the
leading cause of congenital deafblindness. It is also worth noting that very
few people will have 100% of these features and the prevalence is around
1 in 10,000.

VACTERL

This is a syndrome (or an association) of birth defects. It is thought to be
genetic and is associated with trisomy 18 or more frequently with diabetic
mothers. Again it is an acronym which stands for Vertebral defects
(hypoplastic vertebrae and scoliosis), Anal atresia, Cardiovascular
abnormalities (ASD, VSD and Tetralogy of fallot), Tracheoesophageal
fistula, Esophageal atresia, Renal anomalies (usually one umbilical vein
instead of two which causes problems outflow obstruction, reflux and
kidney failure) and Limb defects (hypoplastic thumbs, extra digits, fusion
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of digits etc). Most of these babies will have normal development and
intelligence but can be quite small. It has an incidence of 16 per 100,000
live births.

3. Be aware of other conditions including Patau syndrome (trisomy 13),
Edward Syndrome (trisomy 18), fetal alcohol syndrome, cleft lip and
palate, neural tube defects

Patau syndrome

This is a trisomy 13 chromosomal abnormality due to non-disjunction
during meiosis. This is the least common and most severe of the trisomies
and is much more likely to affect females. The incidence is around 1 in
20,000 and risk increases with affected close family or maternal age (not
as significant as with Down syndrome and Edwards syndrome). Many
foetuses never survive but those that do exhibit:
Low birth weight
IUGR
Congenital heart defects (ASD, VSD, PDA and dextrocardia)
Holoprosencephaly a structural defect in the brain which means it
does not separate into two halves an cause cleft lip/palate amongst
other things
Neural tube defects
Severe learning disability
Small eyes (microphthalmia)
Scalp defects
Gastrointestinal and urogenital malformations
Polydactyly

Prognosis is poor and median survival is 2.5 days with only 1 in 20
surviving longer than 6 months. Congenital heart disease and pneumonia
are the commonest causes of death

Edward syndrome

This is a trisomy 18 chromosomal abnormality and is a severe disorder
that affects all organs of the body. It is the second most common trisomy
after Down syndrome and has an incidence of 1 in 6000 births. Again it is
more common in females, mostly because males or more severely
affected and tend to miscarriage. Again risk factors include a family
history and increasing maternal age. 95% of foetuses with this condition
will die. Prenatally there may be:
Polyhydramnios
Oligohydramnios (deficiency of amniotic fluid, opposite to above)
Small placenta
Single umbilical artery
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Fetal distress
IUGR
Weak fetal activity

After birth the following may be noticed:
Low birth weight
Craniofacial abnormalities low set and malformed ears,
micrognathia, prominent occiput, small facial features, coloboma of
the iris and cleft lip and/or palate
Skeleton abnormalities flexed overlapping fingers, prominent
calcaneus, hypoplastic nails
Congenital heart defects ASD, VSD, PDA and Coarctation of the
aorta
GI abnormalities Tracheoesophageal fistula, pyloric stenosis,
imperforate anus, inguinal hernia
Urogenital abnormalities hydronephrosis, cystic kidneys,
cryptorchidism
Neurological problems hydrocephaly, severe learning disabilities
Pulmonary hypoplasia

Prognosis is again poor with a mean life expectancy of just 4 days with 5-
10% surviving beyond one year.

Fetal alcohol syndrome

Previously discussed in the genetics section

Cleft lip and palate

Previous discussed in the surgery section

Neural tube defects

Neural tube defects result from the failure of normal fusion of the neural
plate to form the neural tube during the first 28 days following
conception. Their birth prevalence has fallen dramatically to 0.1 per 1000
live births and is a combination of natural decline as well as antenatal
screening. The reason for natural decline is thought to be due to better
nutrition along with folic acid supplementation during pregnancy. Neural
tube defects can be divided into several groupings:
Anencephaly Failure of development of most of the cranium and
brain. Affected infants are stillborn or die shortly after birth. It is
detected on antenatal ultrasound screening and termination of
pregnancy is usually performed
Encephalocele there is extrusion of the brain and meninges
through a midline skull defect, which can be corrected surgically.
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However, there are often underlying associated cerebral
malformations.
Spinal bifida occulta this failure of fusion of the vertebral arch is
often an incidental finding on x-ray but there may be an associated
overlying skin lesion such as a tuft of hair, lipoma, birth mark or
small dermal sinus, usually in the lumbar region. There may be
underlying tethering of the cord which, with growth, may cause
neurological deficits of bladder function and lower limbs. The extent
of the underlying disease can be delineated using ultrasound and/or
MRI scans. Neurosurgical relief of tethering is usually indicated.
Meningocele the skin and meninges form an out-pouching,
present with spinal bifida, although the cord fortunately remains in
the meninges and vertebral canal so there are fewer problems
Myelomeningocele there is a communication between the surface
and the meninges, along with some neural tissue (a neural plaque).
It is associated with many complications such as paralysis, sensory
loss, muscle imbalance, neuropathic bladder and bowel, scoliosis
and hydrocephalus.

The most severely affected children have lesions above L3, are unable to
walk, have scoliosis, neuropathic bladder and bowel, hydronephrosis and
frequently develop hydrocephalus.

4. Describe the common features of surgical congenital anomalies
including gastroschisis, exomphalos and bowel atresia

These have all been mentioned in the surgery section

Haemolytic Disease of the Newborn

1. Outline the common cause of haemolytic disease of the newborn

This is mentioned in the rhesus/ABO section.

Hepatitis B Infection

1. Outline the risk to the newborn of maternal hepatitis B infection and
the preventative measures to avoid newborn transmission

This is covered in the viral hepatitis section

Hypoxic Ischaemic Encephalopathy (HIE)

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1. Understand the risk factors for HIE, the key clinical features and
management in terms of therapeutic hypothermia

In perinatal asphyxia, gas exchange, either placental or pulmonary, is
compromised or ceases altogether resulting in cardiorespiratory
depression. Hypoxia, hypercarbia and metabolic acidosis follow.
Compromised cardiac output diminishes tissue perfusion causing hypoxic-
ischaemic injury to the brain and other organs. In developed countries
HIE has a prevalence of about 0.5-1 per 1000 live births. Most incidents
follow a significant hypoxic event immediately before or during labour or
delivery. These include:
Failure of gas exchange across the placenta
Interruption of umbilical blood flow cord compression or shoulder
dystocia
Inadequate maternal placental perfusion, maternal hypotension or
hypertension
Compromised fetus IUGR or anaemia
Failure of cardiorespiratory adaptation at birth failure to breathe

The clinical manifestations start immediately or within 48 hours of
asphyxia. They can be graded as:
Mild irritable, responds excessively to stimulation, may have
staring eyes and hyperventilation and has impaired feeding
Moderate the infant shows marked abnormalities of tone and
movement, cannot feed and may have seizures
Severe there are no normal spontaneous movements or response
to pain; tone in the limbs may fluctuate between Hypotonia and
hypertonia; seizures are prolonged and often refractory to
treatment; multi organ failure is present.
The neuronal damage may be immediate or delayed due to reperfusion
and hence hypothermia may be neuroprotective here.

Management includes respiratory support, an EEG, seizure treatment,
fluid restriction, treatment of hypotension and monitoring of
hypoglycaemia, electrolyte imbalance and effectiveness of treatment.
Trials have show cooling the child down to 33/34 degrees reduces brain
damage if done within 6 hours.

2. Appreciate the long term neurodevelopment risks of HIE

Prognosis when mild is excellent and a complete recovery can be
expected. Infants with moderate HIE who have recovered fully on clinical
neurological examination and are feeding normally by 2 weeks of age
have an excellent long-term prognosis but if clinical abnormalities persist
beyond this time then recovery is unlikely. Severe HIE has a mortality of
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30-40% and 80% of survivors have neurodevelopmental disabilities,
mainly cerebral palsy.

Ambiguous Genitalia

1. Have an awareness of the features of ambiguous genitalia and the
management

With a male appearance and abnormalities of genitalia there may be
severe hypospadias with bifid scrotum, undescended testis/testes with
hypospadias or bilateral non-palpable testes in a full term apparently
male infant. In an apparently female infant there may be clitoral
hypertrophy of any degree, non-palpable gonads and a vulva with a single
opening. A baby with an undetermined sex will simply have ambiguous
genitalia.

Most of this topic will be discussed in the next objective, including the
management.

2. Be aware of endocrine and metabolic disorders that can present in the
newborn period including congenital adrenal hyperplasia and inborn errors
of metabolism

The fetal gonad is initially bipotential. In the male a testis determining
gene on the Y chromosome (SRY) is responsible for the differentiation of
the gonad into a testis. The production of testosterone and its metabolite
dihydrotestosterone results in the development of male genitalia. In the
absence of SRY the gonads becomes ovaries and he genitalia female.
Rarely newborn infants may be born with a disorder of sexual
differentiation and there may be uncertainty about the infants sex. A
disorder of sexual differentiation may be secondary to:
Excessive androgens producing virilisation in a female the
commonest cause of which is congenital adrenal hyperplasia
Inadequate androgen actions producing under virilisation in males.
This can result from an inability to respond to androgens or to
convert testosterone to dihydrotestosterone or abnormalities of the
synthesis of androgens from cholesterol
Gonadotrophin insufficiency, also seen in several syndromes such
as Prader-Willi syndrome and congenital hypopituitarism which
results in a small penis and cryptorchidism
Ovotesticular disorder of sex development (DSD) is caused by both
XX and Y containing cells being present in the fetus leading to both
testicular and ovarian tissue being present and a complex external
phenotype; this is rare

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Management is very difficult as the parents and friends will want to know
the sex of the baby but it is vital to not assign a gender to the baby until
tests are done. A discussion is needed with the parents and birth
registration must be delayed. It can be very difficult to decide on what
sex to rear the child as but female is often chosen as it is easier to
surgically construct the genitalia. There has been a move towards
delaying definitive surgery to let the child decide but this obviously has its
psychological difficulties.

Congenital adrenal hyperplasia

A number of autosomal recessive disorders of adrenal steroid biosynthesis
result in congenital adrenal hyperplasia. Its incidence is about 1 in 5000
births and it is commoner in the offspring of consanguineous marriages.
Over 90% have a deficiency of the enzyme 21hydroxylase, which is
needed for cortisol biosynthesis. About 80% are unable to produce
aldosterone, leading to salt loss (low sodium, high potassium). In the
fetus the resulting cortisol deficiency stimulates the pituitary to produce
adrenocorticotrophic hormones (ACTH) which drives overproduction of
adrenal androgens. This presents as:
Virilisation of the external genitalia in female infants, with clitoral
hypertrophy and variable fusion of the labia
In the infant male the penis may be enlarged and the scrotum
pigmented but these changes are seldom identified
A salt-losing adrenal crisis in the 80% of males who are salt losers
will occur at 1-3 weeks of age and present with vomiting, weight
loss, floppiness and circulatory collapse
Tall stature in the 20% of male non-salt losers; both male and
female non-salt losers also develop a muscular build, adult body
odour, pubic hair and acne from excess androgen production,
leading to precocious pubarche (early puberty)

There may be a family history of neonatal death if a salt losing crisis has
not been recognised and treated.

Diagnosis is made by finding markedly raised levels of the metabolic
precursor 17 alpha-hydroxyprogesterone in the blood. In salt losers the
abnormalities are low sodium, high potassium, metabolic acidosis and
hypoglycaemia.

Management includes a number of strategies. Firstly there may be the
need for corrective surgery in females but they have the structures to be
able to have children. In a salt losing crisis, saline, dextrose and
hydrocortisone are needed IV. The long term management of both sexes
is:
Lifelong glucocorticoids to suppress ACTH levels and to allow normal
growth and maturation
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Mineralocorticoids if there is salt loss
Monitoring growth, skeletal maturity and plasma androgens.
Insufficient hormone replacement will lead to increased ACTH, rapid
initial growth and stunted end height.
Hormones are needed for illness or surgery as the patient cannot
mount a cortisol response.

Potters Syndrome

1. Briefly outline the impact of renal abnormalities on the developing fetus
and newborn

Potters syndrome describes the typical physical appearance caused by
pressure in utero due to oligohydramnios, classically due to bilateral renal
agenesis, but can be due to other conditions such as polycystic kidney
disease, renal hypoplasia and obstructive uropathy. Kidneys develop
between weeks 5 and 7 with ongoing urine production from about week
14. Amniotic fluid is a dynamic product and fetal urine is a major
contributor to its production from the second trimester. Fetal swallowing
recycles amniotic fluid. Any disease that impairs urine production causes
oligohydramnios whilst disease that impairs fetal swallowing, such as
oesophageal atresia and anencephaly, cause polyhydramnios. Amniotic
fluid is critical to pulmonary development and without it the consequences
are pulmonary hypoplasia and respiratory distress at birth. Infants with
Potters syndrome have characteristic faces:
Flattened parrot-beaked nose
Recessed chin
Prominent epicanthal folds
Low-set, cartilage-deficient ears

There are also many cardiac, ophthalmic, neurological and MSK
deformities associated with this that I wont go in to.

2. Understand the impact of the fetal environment its development in
respect of hip and food abnormalities

I dont really understand what is being asked here?

Nephrology and Genitourinary

Henoch Schonlein Purpura

1. Outline the aetiology, clinical features and management

Page | 252

HSP is the combinations of a characteristic skin rash, arthralgia,
periarticular oedema, abdominal pain and glomerulonephritis. It usually
occurs between the ages of 3 and 10 and is twice as common in boys. It
peaks during the winter months and is often preceded by an upper
respiratory infection. The cause is still unknown but it is thought to be due
to antigen exposure causing increased circulating IgA and disrupting IgG
synthesis. The IgA and IgG then react to form complexes, active
complement and become deposited in affected organs, precipitating an
inflammatory response with vasculitis.

At presentation affected children often have a fever. The rash is the most
obvious feature and is symmetrical, distributed over the buttocks, the
extensor surfaces of the arms and legs, and the ankles. The trunk is
spared unless lesions are induced by trauma. The rash may initially be
urticarial, rapidly becoming maculopapular and purpuric, is
characteristically palpable and may recur over several weeks. The rash is
the first clinical feature in about 50% and is the cornerstone of diagnosis.

Joint pain occurs in two thirds of patients, particularly the knees and
ankles. There is periarticular oedema but long term joint damage does not
occur and symptoms will resolve before the rash goes. Colicky abdominal
pain occurs in many children and, if severe, can be treated with steroids.
GI petechiae can cause haematemesis and melaena. Intussusception can
occur and can be particularly difficult to diagnose under these
circumstances. Ileus, protein losing enteropathy, orchitis and occasionally
CNS involvement are rare complications.

Renal involvement is common but rarely the first symptom. Over 80%
have microscopic or macroscopic haematuria or mild proteinuria. These
children usually make a complete recovery.

Management

Investigations include urinalysis, FBC, ESR, creatinine, serum IgA,
autoantibody screen, abdominal ultrasound (for obstruction), barium
enema (confirm obstruction), testicular ultrasound (check for torsion) and
renal biopsy (if persistent nephrotic syndrome).

HSP is usually self limiting and no form of therapy has been show to
appreciably shorten the duration of disease or prevent complications.
Most patients receive primarily supportive treatment. NSAIDS may help
joint pain but should be used with caution in renal insufficiency. With
nephropathy a variety of drugs can be used which includes steroids.

2. Be aware of the long term complications of HSP

Page | 253

If proteinuria is more severe then nephrotic syndrome may result. Risk
factors for progressive renal disease are heavy proteinuria, oedema,
hypertension and deteriorating renal function, when a renal biopsy will
determine if treatment is necessary. All children with renal involvement
will be followed for a year to detect those with persisting urinary
abnormalities (5-10%), who require long term follow up. This is necessary
as hypertension and declining renal function may develop after an interval
of several years.

3. Outline the management plan of patients the HSP including follow-up
for detection of HSP nephritis

The management has been described above along with long term follow
up for severe renal involvement. Less than 1% of patients with HSP
progress to end stage renal failure but prognosis is worse in older
children. If urinalysis is normal then follow up for six months.

Nephrotic Syndrome

1. Know the aetiology, incidence and presenting features of childhood
nephrotic syndrome

Nephrotic syndrome features heavy proteinuria resulting in low plasma
albumin and oedema. The cause is unknown but a few cases are
secondary to systemic diseases such as HSP and other vasculitides e.g.
SLE, malaria or allergens (bee stings). The clinical signs of nephrotic
syndrome are:
Periorbital oedema (particularly on waking) which is the earliest
sign
Scrotal or vulval, leg and ankle oedema
Ascites
Breathlessness due to pleural effusions and abdominal distension.

This condition affects about 16 per 100,000 per year. There are three
main categories that this condition can be broken up into. The first is
steroid-sensitive nephrotic syndrome (also called minimal change disease)
and is the most common.

Steroid-sensitive nephrotic syndrome

In 85-90% of children with nephrotic syndrome, the proteinuria resolves
with corticosteroid therapy. These children do not progress to renal
failure. It is commoner in boys than girls and in Asian children than
Caucasians. It is often precipitated by an URTI and features suggestive of
this are:
Page | 254

Aged between 1 and 10
No macroscopic haematuria
Normal blood pressure
Normal complement levels
Normal renal function

Investigations should include urine protein dipstick, FBC, ESR, U&Es,
creatinine, albumin, complement, ASO titre/anti-DNAse B titre, throat
swab, urine culture, urinary sodium concentration, hepatitis B/C screen
and malaria screen if travel abroad.

Management here is to give oral corticosteroids unless there are atypical
features. After 4 weeks the dose is reduced from 60mg/m
2
per day to
40mg/m
2
on alternate days. The median time for urine to become free of
protein is 11 days. Children who do not respond to a 4-8 week course of
steroid therapy, or have atypical features, may have a more complex
diagnosis and require a renal biopsy. The child with nephrotic syndrome is
susceptible to several serious complications at presentation or relapse:
Hypovolaemia during the initial phase of oedema the intravascular
compartment may become depleted and the child will complain of
abdominal pain and feel faint. There is peripheral vasoconstriction
and urinary sodium retention. A low urinary sodium and high
volume of packed red cells indicates the need for urgent treatment
with IV albumin.
Thrombosis a hypercoagulable state occurs due to urinary loss of
antithrombin, thrombocytosis (which may be exacerbated by steroid
therapy), increased synthesis of clotting factors and a raised blood
viscosity due to higher haematocrit. This can affect the brain, limbs
and splanchnic circulation.
Infection a child in relapse is at risk of infection from
pneumococcus and spontaneous peritonitis may occur.
Hypercholesterolemia correlates inversely with serum albumin but
the cause is not understood.

Prognosis 1/3 resolves, 1/3 infrequently relapses and 1/3 frequently
relapses.

Steroid-resistant nephrotic syndrome

These children should be referred to a paediatric nephrologist.
Management of the oedema is by diuretic therapy, salt restriction, ACE
inhibitors and sometimes NSAIDs which may reduce proteinuria.

Congenital nephrotic syndrome

This presents in the first 3 months of life but is rare. The commonest kind
is recessively inherited and is particularly common in Finns. In the UK the
Page | 255

commonest cause is consanguineous families. It is associated with a high
mortality, usually due to complications of hypoalbuminaemia rather than
renal failure. This can be so severe that unilateral nephrectomy may be
necessary for control, followed by dialysis for renal failure which is done
until a renal transplant is viable.

2. Name the most common types in childhood (i.e. minimal change
disease)

See objective 1.

3. Outline the initial management of children who present with nephrotic
syndrome

See objective 1.

4. Be aware of the atypical features which would prompt consideration of
second line treatment and/or a renal biopsy

Atypical features include:
<1 year old or >10 years old
Hypertensive
Elevated creatinine
Macroscopic haematuria
Failed to respond to steroids after 4-8 weeks

Urinary Tract Infection

1. Know the incidence and common organisms which cause childhood UTI

About 3-7% of girls and 1-2% of boys have at least one symptomatic
urinary tract infection before the age of 6 years, and 12-30% of them
have recurrence within a year. A UTI may involve the kidneys
(pyelonephritis) when it is usually associated with fever and systemic
involvement, or may be due to cystitis when there may be no fever. UTIs
are important in childhood as half the patients will have a structural
abnormality of their urinary tract and pyelonephritis can seriously damage
a developing kidney.

UTIs usually result from the bowel flora entering the urinary tract via the
urethra, except in the newborn when it is more likely to be
haematogenous. The commonest organism is E.coli followed by Klebsiella,
Proteus and Pseudomonas and Strep. faecalis. Proteus infection is more
Page | 256

commonly diagnosed in boys due to it being found under the prepuce.
Pseudomonas infection may indicate the presence of some structural
abnormalities in the urinary tract affecting drainage.

2. Reach a differential diagnosis for children presenting with haematuria

Urine that is red in colour or tests positive for haemoglobin on urine sticks
should be examined under the microscope to confirm haematuria. Urinary
tract infection is the most common cause of haematuria although seldom
as the only symptom. The history and examination may suggest the
diagnosis e.g. nephritis or stone formation.

Causes of haematuria are extensive and include those that are non-
glomerular:
infection
trauma
stones
tumours
sickle cell disease
bleeding disorders
renal vein thrombosis
hypercalciuria
And those that are glomerular: acute/chronic glomerulonephritis, IgA
nephropathy, familial nephritis and thin basement membrane disease.
Some of these will now be discussed.

Acute nephritis is a differential and may be due to HSP/SLE or similar
vasculitis, post infection with streptococcus, IgA nephropathy or with
anti-glomerular basement membrane disease (Goodpasture syndrome). It
is where increased glomerular cellularity restricts glomerular flow and
therefore filtration is decreased. This leads to decreased urine output and
volume overload, hypertension, oedema (periorbital), haematuria and
proteinuria.

Post-streptococcal and post-infectious nephritis usually follows a
streptococcal sore throat or skin infection and is diagnosed by evidence of
recent infection by raised ASO titre or anti-DNAse B titres and low
compliment C3 levels that return to normal after 3-4 weeks. This is a
common condition.

HSP has been described previously and can cause haematuria.

IgA nephropathy is associated with URTIs and presents with macroscopic
haematuria.

Page | 257

Vasculitis can be a cause if it involves the kidney and the commonest
form of this is HSP. However renal involvement can occur with rarer forms
e.g. Wegener granulomatosis. Symptoms include malaise, fever, weight
loss, skin rash and arthropathy.

SLE presents mainly in adolescent girls and young women. It is much
more common in Asian and Afro-Caribbeans than Caucasians. It is
characterised by multiple autoantibodies which cause, amongst other
things, haematuria and proteinuria.

3. List the presenting features of UTI in infants, preverbal children and
verbal children

Presentation of UTI varies with age. In infants the symptoms are non-
specific; fever is usually but not always present, and septicaemia may
develop rapidly. The classical symptoms of dysuria, frequency and loin
pain become more common with increasing age. Dysuria alone is usually
due to cystitis, or vulvitis in girls or Balanitis in uncircumcised boys. A UTI
may also occur following sexual abuse.

Presentation of an infant:
Fever
Vomiting
Lethargy and irritability
Poor feeding/failure to thrive
Jaundice
Septicaemia
Offensive urine
Febrile convulsion (>6 months)

Presentation of a child:
Dysuria and frequency
Abdominal pain or loin tenderness
Fever with or without rigors (exaggerated shivering)
Lethargy and anorexia
Vomiting and diarrhoea
Haematuria
Offensive/cloudy urine
Febrile convulsion
Recurrence of enuresis

Page | 258

4. Know the methods of collecting urine i.e. clean catch urine, bag urine,
catheter specimen and suprapubic aspirate and be aware of some of the
advantages and disadvantages for each method

Clean catch urine

A sample is given directly into a clean pot when the nappy is removed.
This is the recommended method

Bag urine

An adhesive plastic bag is applied to the perineum after careful washing,
although there may be contamination of the skin

Urethral catheter

If there is urgency in obtaining a sample and no urine has been passed

Suprapubic aspiration

When a fine needle attached to a syringe is inserted directly into the
bladder just above the symphysis pubis under ultrasound guidance. It
may be used in severely ill infants requiring diagnosis and treatment but
it is an invasive procedure and is increasingly being replaced by urethral
catheter sampling.

5. List the criteria for diagnosis of UTI based on urine dipstick and urine
culture
Page | 259

Ideally urine should be microscoped to identify organisms and cultured
straight away. A dipstick test can be used to screen for infection but a
urine culture should still be performed unless both leukocyte esterase and
nitrate are negative, or if the clinical symptoms and dipstick do not
correlate. A bacterial culture of >10
5
organisms per millilitre gives a 90%
probability of infection and repeating this increases the odds to 95%. A
growth of mixed organisms indicates contamination and any organisms
seen on catheter sampling or SPA indicates infection.

Dipstick testing
Nitrites (N) produced by bacteria positive result is useful as very
likely to indicate a true UTI but can be infected with a negative
result
Leukocyte esterase (LE) testing (for WBCs) may be present in a
child with a UTI but may be negative. Can occur in febrile illnesses.

Dipstick interpretation
If N and LE are positive then regarded as UTI
If LE negative and N positive then start antibiotics and wait on
cultures
If LE positive and N negative then only start antibiotics if clinical
evidence and wait for culture
If LE and N negative then UTI is unlikely
Blood, protein and glucose can help indicate other conditions in an
unwell child but does not discriminate between a child with or
without a UTI

6. Know the definition of atypical UTI and recurrent UTI as stated in the
NICE guidelines CG54 (childhood UTI) and outline the investigation
schedule based on these definitions

Atypical UTI
Seriously ill
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Septicaemia
Failure to respond to suitable antibiotics within 48 hours
Infected with non-E.coli organisms

Recurrent UTI
Two or more episodes of UTI with acute pyelonephritis/upper
urinary tract infection
Page | 260

One episode of UTI with acute pyelonephritis/upper urinary tract
infection plus one or more episodes of UTI with cystitis/lower
urinary tract infection
Three or more episodes of UTI with cystitis/lower urinary tract
infection

NICE recommends guidelines for investigations for both atypical and
recurrent UTIs but they are divided into the age ranges of <6 months, 6
months to 3 years and >3 years

<6 months
Atypical ultrasound during acute infection, DMSA (a
radionucleotide scan to assess renal function) 4-6 months following
acute infection and MCUG (micturating cystourethrogram)
Recurrent same as above
Responding to treatment ultrasound within 6 weeks

6 months 3 years
Atypical ultrasound during acute infection and DMSA 4-6 months
following acute infection
Recurrent ultrasound within 6 weeks and DMSA
Responding none

>3 years
Atypical ultrasound during acute infection
Recurrent ultrasound within 6 weeks and DMSA
Responding none

Vesicoureteric Reflux (VUR)

1. Know the incidence of VUR in the general population and in children
who present with a UTI

Vesicoureteric reflux is a developmental anomaly of the Vesicoureteric
junction. The ureters are displaced laterally and enter directly into the
bladder rather than at an angle, with a shortened or absent intramural
course. Severe cases can be associated with renal dysplasia. It is familial
with a 30-50% chance of occurring in first degree relatives. It may occur
with other bladder pathology or temporarily after a UTI. Its severity can
vary from reflux into the lower end of an undilated ureter during
micturation to reflux during bladder filling and voiding with distended
ureters, renal pelvis and clubbed calyces. Mild reflux is unlikely to be
significant but severe VUR can be associated with intrarenal reflux and
renal scarring. Reflux tends to resolve with age, especially with the milder
grades. Reflux with associated ureter dilatation is important as:
Urine returning to the bladder encourages infection
Page | 261

The kidneys may become infected
Bladder voiding pressure is transmitted to the renal papillae

VUR in healthy neonates is reported at less than 1% but this may be a
gross underestimation because no large population studies have been
done. VUR is ten times as common in white children compared to black
children and children with red hair have an increased risk. It is also 5-6
times more common in females. The incidence is much higher in infants
with febrile UTIs (30-70%).

2. Outline the diagnostic tests for VUR

Laboratory studies would first be done to rule out a UTI. Serum creatinine
and electrolytes will also be checked to assess renal function and
antenatal hydronephrosis.

The main tests are radiological. The main suggested tests are a VCUG
(voiding cystourethrogram main test), a renal bladder ultrasonography
and occasionally a DMSA.

Acute Kidney Injury

1. Know the presenting features of acute kidney injury (AKI) in childhood

Acute kidney injury is where there is a sudden and potentially reversible
reduction in renal function. Oliguria (<0.5ml/kg/hour) is usually present.
The symptoms are usually sudden in onset and vary depending on the
cause. However the common ones are:
Haemorrhage
Fever
Rash
Bloody diarrhoea
Vomiting
Abdominal pain
Pale skin
Oedema
Periorbital swelling
Abdominal masses

The causes can be classified into prerenal, renal and post renal. Prerenal
is the commonest cause in children and includes hypovolaemia (burns,
sepsis, gastroenteritis, haemorrhage, nephrotic syndrome), or circulatory
failure. Renal causes mean there will be salt and water retention and
protein will be found in the urine. Renal causes include vascular (HUS,
vasculitis, embolus and renal vein thrombosis), tubular (acute tubular
Page | 262

necrosis, ischaemic, toxic, obstructive), glomerular (glomerulonephritis)
and interstitial (interstitial nephritis and pyelonephritis). Finally post renal
causes are to do with obstruction and include congenital or acquired
blockage.

Management

Children with AKI should have their fluid balance and circulation checked
whilst an ultrasound will identify any masses or renal obstruction.

Prerenal this is suggested by hypovolaemia and the fractional excretion
of sodium is very low as the body tries to retain fluid. The hypovolaemia
needs urgent treatment with fluid replacement and circulatory support if
acute tubular necrosis is to be avoided.

Renal if there is circulatory overload then restrict fluid intake and
challenge with a diuretic may increase urine output sufficiently to allow
gradual correction of the sodium and water balance. A high-calorie,
normal protein feed will decrease catabolism, uraemia and
hyperkalaemia. If the cause is not obvious then a renal biopsy is indicated
to exclude rapidly progressing glomerulonephritis. The two most common
causes are HUS and ATN.

Postrenal this requires assessment of the site of obstruction and relief
by nephrostomy or bladder catheterisation. Surgery can be performed
when electrolyte and fluid abnormalities have been corrected.

Dialysis in acute renal failure is indicated when there is:
Failure of conservative management
Hyperkalaemia
Severe hypo/hypernatraemia
Pulmonary oedema or hypertension
Severe acidosis
Multisystem failure

There is generally a good prognosis.

2. Understand the need for a multi-disciplinary and multi-professional
team in the management of children with AKI

Understood

Chronic Kidney Disease

1. List the 5 stages of chronic kidney disease (CKD)
Page | 263

Stage 1: normal GFR>90 mL/min per 1.73m
2
and persistent albuminuria

Stage 2: GFR 60-89 mL/min per 1.73m
2
and persistent albuminuria

2

2

Stage 5: GFR <15 mL/min per 1.73m
2
or end stage renal disease

Clinical features will vary with stage but can include:
Anorexia or lethargy
Polydipsia and polyuria
Failure to thrive/grow
Bone deformities
Hypertension
Acute-on-chronic renal failure
Proteinuria
Normochromic, normocytic anaemia

2. Understand the need for a multidisciplinary and multi-professional
team in the management of children with CKD

Understood.

I may as well use this objective to talk about the management. Usually
the aim of management is to allow normal growth and development whilst
preserving residual renal function. Diet should be controlled to prevent
excess protein, water and salt balance need controlling, anaemia should
be managed, hormone replacement may be necessary and vitamin D
analogues may be needed.

Glomerulonephritis

1. Name the most common cause of acute glomerulonephritis in childhood

Acute nephritis usually occurs followed a streptococcal sore throat or skin
infection. Other causes include vasculitis (SLE, Wegeners, HSP), IgA
nephropathy and anti-glomerular basement membrane disease. This
condition is when increased glomerular cellularity restricts glomerular
blood flow and therefore filtration is decreased. This leads to:
Decreased urine output and volume overload
Hypertension (may cause seizures)
Oedema (characteristically periorbital)
Haematuria and proteinuria
Page | 264

2. List the initial investigations in patients presenting with acute
glomerulonephritis

Management is by attention to water and electrolyte balance and the use
of diuretics when needed. Rarely there may be a sudden deterioration in
renal function but this is rare, particularly if streptococcus is a cause. If
left untreated then irreversible renal failure may occur over weeks or
months so renal biopsy and subsequent treatment with
immunosuppression and plasma exchange may be necessary.

Initial investigations should include:
Electrolytes and creatinine to assess renal function
FBC infection, anaemia
Urinalysis infection, protein, blood
Urine culture infection
Complement levels
ASO titre
Anti-DNAase B
Serum IgA measurement

If the child has a history consistent with acute post-streptococcal
glomerulonephritis, low C3 and positive ASO and Anti-DNAase B is
enough to provide a provisional diagnosis. If this seems unlikely then a
renal biopsy is the single most effective mechanism to get a diagnosis.

Renal ultrasonography is usually performed to exclude other causes of
hypertension and haematuria.

Haemolytic Uraemic Syndrome (HUS)

1. Name the most common causative organism of childhood, diarrhoea
associated HUS

Typical HUS is secondary to gastrointestinal infection with verocytotoxin
producing E.coli 0157, acquired through contact with farm animals or
eating uncooked beef or less commonly due to shigella. It follows a
prodrome of bloody diarrhoea. The toxin from these organisms enters the
GI mucosa and preferentially localised to the endothelial cells of the
kidney where it causes intravascular thrombogenesis (formation of clots).
This clotting results in the microangiopathic haemolytic anaemia. With
early supportive therapy, including dialysis, the prognosis is good.

2. List the triad of abnormalities which define HUS
Page | 265

Acute renal failure
Microangiopathic haemolytic anaemia (destruction of red blood cells
due to vessel anomalies)
Thrombocytopenia (low platelets)

3. Appreciate the difference between diarrhoea associated and non-
diarrhoea associated HUS and the implications for diagnosis

Atypical HUS has no diarrhoeal prodrome, may be familial and frequently
relapses. It has a high risk of hypertension and chronic renal failure and
has a high mortality. Children with intracerebral involvement or with
atypical HUS may be treated with plasma exchange or plasma infusions,
but their efficacy is unproven.

Hypertension

1. Understand the importance of blood pressure centiles in children

These are very useful as the blood pressure will gradually increase with
age. Hence knowing the exact normal range can help demonstrate
abnormal values whilst taking into account height.

When measuring blood pressure the cuff should be at least 2/3 of the
upper arm length to avoid a false reading. In children aged 1-5 the blood
pressure should be under 110mmHg and in children 6-10 it should be
under 120mmHg.

2. Be aware of the common causes of hypertension in children

Hypertension is defined as blood pressure above the 95
th
centile for
height, age and sex. Symptomatic hypertension is usually due to cardiac,
renal or endocrine disorders. Presentation includes vomiting, headaches,
facial palsy, hypertensive retinopathy, convulsions or proteinuria. Failure
to thrive and cardiac failure are the commonest signs in infants.

Renal causes
Renal parenchymal disease
Renovascular (renal artery stenosis)
Polycystic kidneys
Renal tumour

Coarctation of the aorta

Catecholamine excess
Page | 266

Phaeochromocytoma rare tumour of the adrenals causing excess
adrenaline to be released
Neuroblastoma

Endocrine
Congenital adrenal hyperplasia
Cushings syndrome or corticosteroid therapy
Hyperthyroidism

Essential hypertension a diagnosis of exclusion

3. Understand the importance of investigation for an underlying cause in
children who present with hypertension

As hypertension can lead to bleeds and serious damage to organs, it is
vital that a cause is found so treatment can commence. Many of these
causes also have a wider systemic impact that must be managed. Early
detection is hence important and children with hypertension should have
their blood pressure checked annually throughout life. Children with
essential hypertension should be encouraged to restrict their salt intake,
avoid obesity and have their blood pressure regularly checked.

Pyelonephritis

1. Define pyelonephritis and cystitis as stated in the NICE guidelines CG54
(childhood UTI)

Pyelonephritis a bacterial infection of the upper urinary tract causing
inflammation of the kidney(s)

Cystitis inflammation of the bladder

2. Be aware of the treatment

For infants and children 3 months or older with acute
pyelonephritis/upper urinary tract infection:
Consider referral to a paediatric specialist
Treat with oral antibiotics for 7-10 days. The use of antibiotics with
low resistance patterns is recommended i.e. cephalosporin and co-
amoxiclav
If oral antibiotics cannot be used, treat with IV antibiotics such as
cefotaxime or ceftriaxone for 2-4 days followed by oral antibiotics
for a total duration of 10 days

Page | 267

For infants and children 3 months or older with cystitis/lower urinary tract
infection:
Treat with oral antibiotics for 3 days i.e. trimethoprim,
nitrofurantoin, cephalosporin or amoxicillin
The parents or carers should be advised to bring the infant or child
for reassessment if the infant or child is still unwell after 24-48
hours. If an alternative diagnosis is not made, a urine sample
should be sent for culture to identify the presence of bacteria and
determine antibiotic sensitivity if urine culture has not already been
carried out.

Antibiotic prophylaxis should not be routinely recommended in infants and
children following first-time UTI.

Urinary Tract Abnormalities

1. Know the presenting features of urinary tract abnormalities e.g.
antenatal diagnosis, UTI

Before antenatal ultrasound scanning became routine there were few
congenital conditions diagnosed until they caused symptoms in later
childhood. Now the majority are identified in utero and can be managed
prospectively. Abnormalities are identified in 1 in 200-400 births.
Abnormalities include:
Absence of both kidneys (renal agenesis) severe oligohydramnios
resulting in Potter syndrome
Multicystic dysplastic kidney a non-functioning structure with
large fluid filled cysts and no renal tissue or connection to the
bladder.
Autosomal dominant or recessive polycystic kidney disease in
comparison to the condition above some renal function is
maintained but both kidneys are always affected
Pelvic or horseshoe shaped kidneys predisposed to infection or
obstructs drainage
Duplex system varies from a bifid pelvis to complete division and
two ureters. These can cause a variety of problems including reflux
and obstruction
Posterior urethral valves a valve in the urethra which causes
obstruction and reflux
Hydronephrosis a dilation and swelling of the kidney due to
increased back pressure.

2. Understand the investigations used in the diagnosis of antenatal
urinary tract abnormalities

Page | 268

The GFR is low in a newborn infant and is especially low in premature
infants. At 28 weeks gestation the GFR is only 10% of the term infant. In
a term infant GFR is 15-20 ml/min per 1.73m
2
but rapidly rises to a
normal adult rate by the age of 2.

There are many investigations available to monitor the kidney and renal
systems. Most of these are mentioned above or below but the following is
a brief overview:
Ultrasound provides anatomical assessment but not function
DMSA scan detects functional defects
MCUG/VCUG visualise bladder and urethral anatomy and can
detect both reflux and obstruction
MAG3 isotope scan isotopes excreted from the blood into the
urine can be measured
Plain abdominal X-ray spinal abnormalities and potentially renal
stones

Hypospadias

1. Outline the embryology and be aware if the treatment options

In the male foetus the formation of the urethra occurs in a proximal to
distal direction under the influence of testosterone. Failure to complete
this results in a urethral opening proximal to the normal position on the
glans, termed hypospadias. It is a common congenital abnormality
occurring in about 1 in 200 boys.

Signs and symptoms include ventral urethral meatus normally on the
glans penis but can be on the corona, shaft or perineum. There is a hood
dorsal foreskin that has failed to fuse ventrally and a chordee-ventral
curvature (of the penis head) seen in severe hypospadias.

Complications are mostly cosmetic but more severe abnormalities cause
problems urinating and with erections. In the most severe disease other
genito-urinary abnormalities should be excluded along with intersex
disorder.

IgA nephropathy

1. Be aware that IgA nephropathy shares the histopathological features of
HSP nephritis

This may present with episodes of macroscopic haematuria, commonly in
association with upper respiratory tract infections. Histological findings
and management are as for HSP, which may be a variant of the same
Page | 269

pathological process but not restricted to the kidney. The prognosis in
children is better than that in adults.

Neuropathic bladder

1. Have an awareness of the presenting features of children with a
neuropathic bladder

Neurogenic bladder is a condition where the bladder does not empty
properly due to a neurological condition or spinal cord injury (or spinal
bifida). Symptoms may include:
Urinary incontinence the need to urinate frequently and with
urgency as well as experiencing small during volume during
urination, dribbling urine and loss of sensation of bladder fullness.
Urinary tract infection an infection may result from urine being
held in the bladder too long
Kidney injury these occur as a result of the high pressure caused
by urine back log
Kidney stones can be difficult to detect if the child cannot feel pain
due to spinal injury. Symptoms include pain, blood in urine and
fever/chills.
Erectile dysfunction may present in later life

Vulvo-Vaginitis

1. Understand that this is common in young girls and the initial steps in
management

Vulvovaginitis and vaginal discharge are common in young girls. They
may result from infection, poor hygiene, or sexual abuse, although none
of these factors is present in most cases. Vulvovaginitis may rarely be
associated with thread worm infestation. Parents should be advised about
hygiene, the avoidance of bubble bath and scented soaps and the use of
loose-fitting cotton underwear. Swabs should be taken to identify any
pathogens which can then be specifically treated. Salt baths may be
helpful. Oestrogen cream applied sparingly to the vulva may relieve the
problem in resistance cases by increasing vaginal resistance to infection
as prepubertal tissues tend to be atrophic. If there are any concerns
about sexual abuse then the child must be seen by a paediatrician.
Rarely, if the vaginal discharge is persistent or purulent, examination
under anaesthesia may be needed to exclude a vaginal foreign body or
unusual infection.

Neurology
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Cerebral Palsy

1. To understand the risk factors for development of CP and be able to
distinguish between different types of CP

Cerebral palsy may be defined as an abnormality of movement and
posture, causing activity limitation attributed to non-progressing
disturbances that occurred during development of the fetal brain. The
motor disorders of CP are often accompanied by:
Learning difficulties 60%
Epilepsy 40%
Squints 30%
Vision problems 20%
Hearing problems 20%
Speech and language disorders
Behavioural disorders
Feeding problems
Joint contractures, subluxations and scoliosis

The lesion is non progressive but the clinical manifestations arise over
time. CP is the commonest cause for motor impairment in children and
affects 2 in 1000 live births.

Causes

About 80% of CP is antenatal in origin due to vascular occlusion, cortical
migration disorders or structural maldevelopment of the brain during
gestation. Other antenatal causes are genetic syndromes and congenital
infection. Only about 10% of cases are thought to be due to hypoxic-
ischaemic injury during delivery and this proportion has remained
relatively constant. About 10% are postnatal in origin and preterm infants
are particularly vulnerable to periventricular leukomalacia secondary to
ischaemia and/or severe haemorrhage. Other postnatal causes include
meningitis/encephalitis/encephalopathy, head trauma, symptomatic
hypoglycaemia, hydrocephalus and hyperbilirubinaemia.

Presentation and subtypes

Early features of CP include:
Abnormal limb and/or trunk posture and tone in infancy with
delayed motor milestones
Feeding difficulties, with oromotor incoordination, slow feeding,
gagging and vomiting
Abnormal gait once walking is achieved
Asymmetric hand function before 12 months of age
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Secondary to this; in CP the primitive reflexes which facilitate the
emergence of normal patterns of movement and which need to disappear
for motor development to progress, may persist and become obligatory.

Spastic cerebral palsy (90%) due to damage of the UMN pathway. Limb
tone is persistently increased with associated brisk deep tendon reflexes
and extensor plantar responses. The tone in spasticity is velocity
dependent, so the faster the muscle is stretched the greater the
resistance it will have. This elicits a dynamic catch which is the hallmark
of spasticity. The increased limb tone may also yield under pressure clasp
knife. Limb involvement is unilateral or bilateral. Spastic CP can itself be
divided into three subtypes:
Hemiplegia unilateral involvement of the arm and leg. The arm is
usually affected more than the leg with the face spared. Children
present at 4-12 months with fisting of the affected hand, a flexed
arm, a pronated forearm, asymmetric reaching or hand function. A
tiptoe walking on the affected side may become evidence. Initially
the limbs may be hypotonic before increasing in tone
Quadriplegia all four limbs are affected, often severely. The trunk
is involved with a tendency to opisothonus (extensor protruding
severe arching of the back), poor head control and low central tone.
This more severe form is associated with seizures, microcephaly
and moderate to severe intellectual impairment.
Diplegia all four limbs can be affected but the legs are affected
much more than the arms so that hand function may appear
normal. Motor abnormalities in the arms are most apparent with
functional use of both hands. Walking is abnormal. This is one of
the patterns associated with preterm birth due to periventricular
brain damage. Intellectual functioning is usually normal.

Dyskinetic cerebral palsy (6%) refers to movements which are
involuntary, uncontrolled and often stereotyped. They are much more
evidence with active movement or stress. Muscle tone is variable and
primitive motor reflexes predominate. The pattern may be described as
chorea (irregular sudden movements), athetosis (slow writhing
movements) or dystonia (simultaneous contraction of agonist and
antagonist). Intellect may be relatively unimpaired and affected children
are often floppy with poor trunk control and delayed motor development.
Abnormal movements may only appear towards the end of the first year
of life. This is due to damage of the basal ganglia, typically due to
kernicterus or HIE.

Ataxic (hypotonic) cerebral palsy more genetically determined. When
due to a brain injury (of the cerebellum) the signs occur on the same side
as the lesion but are usually relatively symmetrical. There is early trunk
and limb Hypotonia, poor balance and delayed motor development.
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Incoordinate movements, intention tremor and an ataxic gait may be
evident later.

2. To know how to treat these children with therapy, antispasmodic
drugs, orthopaedic surgery and baclofen pumps

Physiotherapy

Started as soon as the diagnosis is given and has two main goals: to
prevent weakness of muscles not normally used and to prevent muscles
getting stuck in a rigid position.

Drugs

Diazepam tends to be prescribed as a muscle relaxant but side effects
include drowsiness, slurred speech, constipation, nausea and
incontinence. Alternative botox injections can be used to relieve some
stiffness of muscle groups. Finally baclofen intrathecal therapy can be
used which involves connecting a pump outside the body which is linked
to the spine. This infusion then blocks some nerve signals.

Orthopaedic surgery

Can be used to lengthen any muscles which are causing problems.
Sometimes multiple surgeries are needed due to a child growing.

3. Understand a multidisciplinary approach

Children with CP are likely to have a wide range of associated medical,
psychological and social problems making it essential to adopt a
multidisciplinary approach to assessment and management.

Epilepsy

1. To be able to distinguish between common types, know what an EEG
and MRI scan can and cannot show

Epilepsy has a prevalence of 0.5%. It is a chronic neurological disorder
characterised by recurrent unprovoked seizures consisting of transient
signs and/or symptoms associated with abnormal, excessive or
synchronous neuronal activity in the brain. Most causes are idiopathic but
can result from tumours or damage. Epilepsy can be broadly classified as
seizures that are either generalised or focal.

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Generalised seizures

These occur when discharges arise from both hemispheres and include
absence, myoclonic, tonic, tonic-clonic and atonic seizures.
Absence transient loss of consciousness with an abrupt onset and
termination, unaccompanied by motor phenomena except for some
flickering of the eyelids. Absences can often be precipitated by
hyperventilation.
Myoclonic brief but often repetitive jerking movements of the
limbs, neck or trunk. Non-epileptic myoclonic movements can be
seen in stage 2 sleep or with hiccoughs.
Tonic generalised increase in tone
Tonic-clonic a rhythmical contraction of muscle groups following
the tonic phase. Children often fall to the ground and stop breathing
temporarily, becoming cyanosed. Breathing is irregular and there is
a build up of saliva in the mouth. There may also be tongue biting
and incontinence. The seizures usually last for a few seconds to
minutes and are followed by unconsciousness or deep sleep for up
to several hours.
Atonic often combined with a myoclonic jerk, followed by a
transient loss of muscle tone causing a sudden fall to the floor or
drop of the head

Focal seizures

Frontal involves the motor or premotor cortex and leads to clonic
movement. Asymmetrical tonic seizures can be seen.
Temporal the most common of all epilepsies and result in strange
warning feelings with smell and taste abnormalities and distortions
of sound and shape. Lip-smacking, plucking at clothes and
purposeless walking are seen along with dj-vu.
Occipital causes visual distortion
Parietal causes contralateral dysaesthesias (altered sensation) or
distorted body image

Syndromes

There are several syndromes associated with epilepsy which are
important to know.
West syndrome (4-6 months) EEG shows hypsarrhythmia (chaotic
background of slow wave activity with sharp multi-focal
components). Pattern of seizure is violent flexor spasms of the
head, trunk and limbs followed by extension of the arms. Spasms
occur for 1-2 seconds and repeat 20-30 times.
Lennox-Gastaut syndrome (1-3 years) mostly drop attacks, tonic
seizures and atypical absences
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Childhood absence epilepsy (4-12 years) EEG shows 3/second
spike and wave discharge which is bilaterally synchronous.
Benign epilepsy tonic-clonic seizures in sleep or simple focal
seizures with awareness of abnormal feelings. EEG shows focal
sharp waves from the Rolandic area.
Early onset benign childhood occipital epilepsy periods of
unresponsiveness in young children and hallucinations/visual
disturbance in older children. EEG shows occipital discharges
Juvenile myoclonic epilepsy myoclonic seizures but generalised
tonic-clonic or absences may also occur, mostly shortly after
waking. There is a characteristic EEG.

2. Have some knowledge of initial investigations and treatment options

Investigations

An EEG is indicated whenever epilepsy is suspected. Many children with
epilepsy have a normal initial EEG and many children who will never have
epilepsy have EEG abnormalities. Unless a seizure is captured, an EEG
does no more than add supportive evidence for the diagnosis. If the EEG
is normal a sleep or sleep-deprived study can be helpful. Additionally a 24
hour ambulatory EEG or video-telemetry study can be done.

To assess structure an MRI or CT brain scan may be used. They are
usually indicated if there are neurological signs between seizures or if the
seizures are focal, in order as to identify a tumour, vascular lesion or area
of sclerosis that can be treated.

Functional scans may be done to detect abnormal areas of metabolism
suggestive of seizure foci. These include PET and SPECT scans.

Other investigations include metabolic and genetic studies.

Treatment

Anti-epileptic drugs can be used for treatment. The principles that govern
their use are:
Not all seizures require AED therapy and treatment should be based
on seizure type, frequency and the social and education
circumstances.
Choose the appropriate drug for the seizure
Monotherapy at the minimum dose is desired
All AEDs have unwanted side effects that need discussing
Drug levels are not measured routinely
Children with prolonged seizures are given rescue therapy (usually
rectal or buccal diazepam)
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AED can usually be discontinued after 2 seizure free years.

Seizure type First line Second line
Tonic-clonic Valporate,
carbamazepine
Lamotrigine
Absence Valporate,
ethosuximide
Lamotrigine
Myoclonic Valporate Lamotrigine
Focal Carbamazepine,
valporate
Topiramate

Other treatment options include:
Ketogenic diets may be helpful in some children
Vagal nerve stimulation delivered using an external
programmable wire or magnet
Surgery if well localised with useful EEG and MRI findings but
involves removal of sections of brain.

3. To be conversant with the names and side effects of common
anticonvulsant medication

Valporate S/E include weight gain, hair loss and rarely liver failure

Carbamazepine S/E include rash, neutropenia, hyponatraemia, ataxia,
liver enzyme induction

Lamotrigine S/E include rash

Ethosuximide S/E include nausea and vomiting

Benzodiazepines S/E include sedation, tolerance to effect and increased
secretions

4. To know about SUDEP and what safety information to give families

Sudden unexpected death in epilepsy (SUDEP) occurs in a very small
proportion of people and the cause is often not known. It is not due to
injury, drowning or a prolonged seizure causing hypoxia. It is estimated
to cause around 500 deaths per year. It is most common in people who
have generalised tonic-clonic seizures, especially in young adults. The risk
factors appear to be poor seizure control and seizures occurring in sleep.

The risk can be minimised by firstly trying to prevent seizures through
medication or surgery.
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Febrile Convulsion

1. To be able to explain to parents how often these occur and basic first
aid advice

A febrile seizure is a seizure accompanied by a fever in the absence of
intracranial infection due to bacterial meningitis or viral encephalitis.
These occur in 3% of children, between the ages of 6 months and 5
years. There is a genetic predisposition, with a 10% risk if the child has a
first-degree relative with febrile seizures. The seizure usually occurs early
in a viral infection when the temperature is rapidly rising. The seizures
are usually brief and are generalised tonic-clonic seizures. About 30-40%
will have further febrile seizures. This is more likely the younger the child,
the shorter the duration of illness before seizure (the first time), the lower
the temperature at the time of seizure and if this is a positive family
history.

Simple febrile seizures do not cause brain damage and the childs
subsequent intellectual performance is the same as in children who do not
experience a febrile seizure. There is a 1-2% chance of developing
epilepsy, similar to the risk of all children. However complex febrile
seizures, i.e. those which are focal, prolonged or repeated in the same
illness, have an increased risk of 4-12% of subsequent epilepsy.

Management is to ensure the cause isnt something more serious and
involves ruling out meningitis. This process also involves informing the
parents and providing reassurance. First aid basics for seizure
management should be taught and are detailed below. Antipyretics and
cold sponges are not recommended as they dont seem to work.
Antiepileptic drugs are not used and an EEG is not indicated.

First aid place them in the recovery position on a soft surface to prevent
them aspirating vomit once the seizure is over. Whilst the seizure is
occurring the child should be placed in a safe location, away from hard
objects that can cause injury. Stay with the child and call for help if the
seizure lasts longer than 5 minutes.

2. To know about their relationship with epilepsy

See objective 1.

Fits/Faints/Funny Turns

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1. To be able to distinguish between epileptic attacks, syncopal episodes
and other movement disorders

These can also be labelled as paroxysmal disorders. The major question is
whether a diagnosis of epilepsy is correct or if there is a different cause
mimicking it. A clinical diagnosis based on history, examination and EEG
should be enough to help differentiate. Causes of funny turns include:
Breath holding attacks toddler holds breath whilst crying and can
lose consciousness but rapidly recovers
Reflex anoxic seizures occurs in infants or toddlers and triggers
include pain or discomfort. After the trigger the child becomes pale
and falls to the floor, the hypoxia may stimulate a tonic-clonic
seizure. These are brief and recovery is complete
Syncope children may faint from hot environments or prolonged
standing
Migraine headaches with unsteadiness or light-headedness
Benign paroxysmal vertigo vertigo lasting several minutes and
associated with nystagmus and possible falling. Usually due to viral
Labyrinthitis
Cardiac causes cardiomyopathy or prolonged QT syndrome
Other causes psuedoseizures, Munchausens by proxy, NAI, atonic
epileptic seizures

Ataxia

1. To be able to list the common causes of ataxia and know how to
investigate them

Ataxia describes the incoordination of movement, speech and posture due
to either cerebellar (more common in children) or posterior pathway
problems. In cerebellar ataxis there is an unsteady wide-based gait
(truncal ataxis), dysdiadochokinesis, overshooting of target directed
movement (dysmetria) and an intention tremor. There may also be a
scanning dysarthria (speech problem), positive Rombergs test and
nystagmus. Causes of cerebellar ataxis include:
Acute causes medications, drugs, alcohol, solvents, trauma
Post viral seen with varicella infection
Posterior fossa lesions CPA syndrome
Genetic and degenerative disorders (see below)

The genetic and degenerative disorders are:
Ataxic cerebral palsy
Friedreichs ataxia this is an autosomal recessive condition. It
presents with worsening ataxia, distal wasting in the legs, absent
lower limb reflexes but extensor plantar responses because of
pyramidal involvement, pes cavus (high arch) and dysarthria. This
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is similar to hereditary motor sensory neuropathies but with FA
there is impairment of joint position and vibration sense, extensor
plantars and there is often optic atrophy. The cerebellar component
will become more apparent with age. Evolving kyphoscoliosis and
cardiomyopathy can cause cardiorespiratory compromise and death
at 40-50 years.
Ataxia telangiectasia this disorder is of DNA repair and is an
autosomal recessive condition. There may be a mild delay in motor
development in infancy and oculomotor problems with
incoordination and delay in ocular pursuit of objects, with difficulty
with balance and coordination becoming evident at school age.
There is subsequent deterioration with a mixture of dystonia and
cerebellar signs. Many children require a wheel chair for mobility.
Telangiectasia develops in the conjunctiva, neck and shoulders from
about 4 years. These children are more susceptible to infection (IgA
defect), develop malignant disorders, have raised alpha-fetoprotein
and have increased white cell sensitivity to radiation.

Investigations include genetic testing, lumbar puncture and brain scans to
check for tumours or damage.

Brain Tumours

1. To be aware of the presenting features of brain tumours

Brain tumours are almost always primary tumours in children and 60%
are infratentorial (cerebellar and brainstem). They are the most common
solid tumour in children and are the leading cause of childhood cancer
deaths in the UK. The types of brain tumour and their presentation are:
Astrocytoma (40%) varies from benign to highly malignant and
often occurs in the cerebral hemispheres. Symptoms include
seizures, headaches and focal neurological signs. Outlook is
generally poor.
Medulloblastoma (20%) arises in the midline of the posterior
fossa and may seed through the CNS via the CSF. Up to 20% will
have spinal metastases at diagnosis. Symptoms include truncal
ataxia, coordination difficulties, abnormal eye movements and
morning vomiting. Treatment is surgical followed by total body
irradiation. Survival at 5 years is 50%
Ependymoma (8%) mostly in the posterior fossa where it behaves
like medulloblastoma.
Brain stem gliomas (6%) commoner in early childhood and
presents with signs of cranial nerve defects, pyramidal tract signs,
ataxia and often no increased ICP. Prognosis is poor with only a
20% survival
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Craniopharyngioma (4%) a developmental tumour arising from
the squamous remnant of Rathke pouch. It is not truly malignant
but is locally invasive and grows slowly in the suprasellar region.
Signs include visual field loss and bitemporal hemianopia, pituitary
failure (growth failure, weight gain and diabetes insipidus).

Signs of raised ICP in children and adolescents include:
Headache worse in the morning
Vomiting especially on waking
Behaviour/personality change
Visual disturbance
Papilloedema
And in young infants:
Vomiting
Separation of sutures/tense fontanelle
Increased head circumference
Head tilt/posturing
Developmental delay/regression

Breath holding

1. To be able to recognise the history of a child with this condition

Breath holding spells are brief periods when a young child stops breathing
for up to a minute. These spells often cause the child to pass out (lose
consciousness). Breath holding usually occurs when a child is angry,
frustrated, in pain or afraid. But the spell is a reflex and is usually not a
deliberate act. Breath holding can be classified as:
Cyanotic the most common type and occurs in response to anger
or frustration. A childs skin typically turns red or blue-purple
Pallid a pale appearance to the childs skin in response to fear,
pain or injury, especially after head trauma.
Breath holding occur in children between 6 months and 6 years but is
most common between 1 and 3 years. Some children may have one spell
a year whilst others have several a day. These are not serious and should
not cause any serious damage. They should eventually resolve.

Symptoms of a cyanotic spell are:
A short burst of rigorous crying lasting less than 30 seconds
Hyperventilation
A pause in breathing after exhaling
Red or blue skin and lips
Seizures may occur

Developmental Regression
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1. To know the common causes of regression e.g. Battens disease, Retts,
Leukodystrophies, Wilsons and SSPE

Developmental regression is different to developmental delay as a child
loses skills that they have previously acquired rather than never acquiring
them.

Battens disease is a rare, fatal autosomal recessive neurodegenerative
disorder that begins in childhood. Symptoms occur around 4-10 years
with a gradual onset of visual problems and seizures. This progresses to a
change in behaviour, speech and a regression in learning. There may be a
slow in growth and breath holding attacks. Eventually function will
deteriorate to dementia and death.

Retts syndrome is a pervasive developmental disorder mentioned above
in the genetic disorders section

Leukodystrophies refers to a group of conditions characterised by
dysfunction of the white matter of the brain. The cause is incorrect growth
of the myelin sheath. Symptoms include a gradual decline in an
infant/child who was previously doing well, progressive loss of movement,
speech, vision, hearing and behaviour.

Wilsons disease is an autosomal recessive disorder with an incidence of 1
in 200,000. The general result of the condition is a reduced synthesis of
copper binding protein as well as defective excretion of copper in the bile
which leads to an accumulation of copper in the liver, brain, kidney and
cornea. Wilsons disease rarely presents in children under 3 and can
present with almost any form of liver disease including hepatitis,
(fulminant or acute), cirrhosis and portal hypertension. Neuropsychiatric
features are more common after the second decade and include
deterioration in school performance, mood, behaviour and coordination.

SSPE (subacute sclerosis panencephalitis) is a rare, chronic, progressive
encephalitis caused by a persistent infection of immune resistant measles
virus. The history is a primary infection before the age of 2 and then 6-15
asymptomatic years before gradual psychoneurological deterioration.

Hydrocephalus

1. To understand the difference between obstructive, communicating and
external hydrocephalus

In hydrocephalus there is an obstruction to the flow of CSF leading to
dilatation of the ventricular system proximal to the site of obstruction.
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Obstructive the obstruction may be within the ventricular system
or aqueduct
Communicating the obstruction may be at the arachnoid villi, the
site of absorption for CSF (but can also be due to CSF
overproduction or venous drainage insufficiency)
External this is a benign condition with a self-limiting absorption
deficiency of infancy and early childhood that leads to increased
ICP. It is thought to be due to an immaturity of arachnoid villi not
absorbing fast enough.

Clinical features as a disproportionately large head circumference or
excessive rate of head growth (due to failure of suture formation). When
the skull sutures separate the anterior fontanelle bulges and the scalp
veins become distended. An advanced sign is a fixed downwards gaze or
sun setting of the eyes. Older children with develop signs of increased ICP
(see brain tumour section).

Macrocephaly

1. To know the common causes

Macrocephaly is a head circumference above the 98
th
centile. Most are
normal children and often have parents with big heads. A rapidly
increasing head circumference, even if below the 98
th
centile, suggests
rapidly increasing ICP and may be due to hydrocephalus, subdural
haematoma or brain tumour. It must be investigated promptly by
intracranial ultrasound if the anterior fontanelle is still open, otherwise by
CT or MRI scan.
Common causes of a large head area:
Tall stature
Familial macrocephaly
Raised intracranial pressure
Hydrocephalus (progressive or arrested)
Chronic subdural haematoma
Cerebral tumour
Neurofibromatosis
Cerebral gigantism (Sotos syndrome)
CNS storage disorders e.g. mucopolysaccharidosis (hurler
syndrome)

Microcephaly

1. To know the common causes

Microcephaly is a head circumference below the 2
nd
centile and may be:
Page | 282

Familial when it is present from birth and development is often
normal
An autosomal recessive condition when it is associated with
developmental delay
Caused by congenital infection
Acquired after an insult to the developing brain, e.g. perinatal
hypoxia, hypoglycaemia or meningitis, when it is often accompanied
by cerebral palsy and seizures.

Migraine/Headache

1. To be able to distinguish between migraine and tension headaches

Headache is a frequent reason for consultation. Headaches can be
classified as:
Primary migraines, tension-type headaches, cluster headaches
and other primary headaches. These are thought to be due to
primary malfunction of neurones
Secondary symptomatic of some underlying pathology
Trigeminal and other cranial neuralgias including nerve root pain

Tension-type Headache

A symmetrical headache with gradual onset often described as a bilateral
tight band-like pain. There are usually no other symptoms but may be
accompanied by abdominal pain and behavioural problems and occur
daily.

Migraine

Without aura this accounts for 90% of migraines and in children the
episodes may last 1-72 hours. The headache is commonly bilateral but
may be unilateral. Characteristically pulsatile, over temporal or frontal
areas and is accompanied by unpleasant GI disturbances such as nausea,
vomiting and abdominal pain and photophobia or phonophobia. It can be
aggravated by physical activity.

With aura accounts for 10% of migraines. This headache is preceded by
an aura (visual, sensory or motor), although the aura may occur without
the headache. Features are the absence of problems between attacks and
the frequent presence of premonitory symptoms (tiredness, difficulty
concentrating, autonomic features etc). The most common auras involve
visual disturbances and may include:
Negative phenomena, such as hemianopia or scotoma
Positive phenomena such as fortification spectra (zigzag lines)
Page | 283

Episodes usually last for a few hours, during which the children often
prefer to lie down in a quiet, dark room and sleep (relieves the bout).
Symptoms of tension-type headaches and migraines often overlap and
are probably a continuum of the same disorder. There is a genetic
predisposition to these in some people.

Raised Intracranial Pressure

1. To know what features are suggestive of raised ICP and be aware of
treatment options

The features of raised ICP for both adults/children and infants are listed in
the brain tumours section. Treatment really depends upon the cause.
Tumour consider prompt removal surgically or
radio/chemotherapy
Subdural haematoma surgical drainage
Hydrocephalus ventriculoperitoneal shunt
If idiopathic then specific diuretics can be prescribed by the
neurologist. Hypoventilation of the patient can temporarily
decreased ICP by decreased CO
2
and causing vasoconstriction
Craniotomy may be performed if other procedures have not worked

Reflex Anoxic Seizures

1. To know how this presents

Typically occur in infants or toddlers. They may have a first degree
relative with a history of faints. The commonest triggers are pain or
discomfort, particularly minor head trauma, cold food (e.g. ice cream or
cold drinks), fright or fever. Some children with febrile seizures may have
experienced this phenomenon. After the triggering event the child
becomes very pale and falls to the floor. The hypoxia may induce a
generalised tonic-clonic seizure. The episodes are due to cardiac asystole
from vagal inhibition. The seizure is brief and the child rapidly recovers.
Ocular compression under controlled conditions often leads to asystole
and paroxysmal slow wave discharge on the EEG.

Subdural Haematoma

1. To be aware of the causes of this and to be able to recognise the
symptoms

This results from tearing of the veins as they cross the subdural space. It
is a characteristic lesion in non-accidental injury caused by shaking or
Page | 284

direct trauma in infants or toddlers. Retinal haemorrhages are usually
present. Subdural haematomas are occasionally seen following a fall from
a considerable height. Symptoms include an altered mental state,
seizures, apnoea, breathing difficulties, headaches, lethargy or sudden
cardiac arrest.

Craniosynostosis

1. To understand how these conditions can occur and the way they may
present

The sutures of the skull bones start to fuse during infancy but do not
finally fuse until late childhood. Premature fusion of one or more sutures
(Craniosynostosis) may lead to distortion of the head shape.
Craniosynostosis is usually localised (sagital suture long narrow skull,
coronal suture asymmetrical skull, and lambdoid suture flattening of
skull). It most often affects the sagital suture when it results in a low,
narrow skull. Rarely it affects the lambdoid suture to result in skull
asymmetry which needs to be differentiated from plagiocephaly, where
there is asymmetrical flattening of one side of the skull from positional
moulding.

Craniosynostosis may be generalised when it may be a feature of a
syndrome (Crouzon syndrome). The fused sutures may be felt or seen as
a palpable ridge and confirmed on skull x-ray or cranial CT. If necessary
the condition can be treated surgically because of raised ICP or for
cosmetic reasons.

Myotonic Dystrophy

1. Be aware of the features of this condition

Myotonia is delayed relaxation after sustained muscle contraction. It can
be identified clinically and on electromyography. Myotonic dystrophy is a
relatively common autosomal dominant condition of triplet repeat
extensions. There is a correlation between the number of repeats and
with severity and onset. This is a progressive condition with onset
between 20 and 50 years of age generally.

Signs and symptoms include a child with poor feeding, failure to meet
milestones and Hypotonia. There is progressive distal muscular weakness,
ptosis, weakness and thinning of the face and sternocleidomastoids along
with the carp mouth. Other features of this syndrome include cataracts,
frontal balding, mild cognitive impairment, oesophageal dysfunction,
cardiomyopathy (main cause of death) and conductive defects, small
Page | 285

pituitary fossa and hypogonadism, glucose intolerance and low serum
IgG. Look for myotonia (a slow relaxation of muscles, classically seen with
difficulty releasing ones hand on shaking it) in the mother.

Myopathy

1. To be aware of the features of Duchenne Muscular Dystrophy and
Congenital Muscular Dystrophies

The DMD section covers everything important with regards to this.

Congenital muscular dystrophies are a heterogeneous group of disorders,
most with recessive inheritance, which present at birth or early infancy
with weakness, Hypotonia or contractures. Typically the proximal
weakness is slowly progressive with a tendency to contracture when the
ability to walk is lost. Some may run a more static course. Biopsy shows
dystrophic features with a reduction of one of the extracellular matrix
proteins such as laminin (most common); or one of several
glycosyltransferases. These dystrophies may be linked with central
nervous abnormalities, which may result in learning difficulties. The main
difference that I can see between these and DMD is the fact that these
present at birth and tend to have a more variable and longer life
expectancy.

2. To know about the treatment of DMD i.e. steroids, cardiac drugs and
nocturnal ventilation

See the DMD objective.

Neuropathy

1. To know about acute conditions e.g. Guillain-Barre, and also chronic
neuropathies e.g. Charcot Marie Tooth, CIDP

Guillain-Barre syndrome

Presentation is typically 2-3 weeks after a URTI or campylobacter
gastroenteritis. There may be fleeting abnormal sensory symptoms in the
legs, but the prominent features is an ascending symmetrical weakness
with loss of reflexes and autonomic involvement. Sensory symptoms,
usually in the distal limbs, are less striking than the paresis but can be
unpleasant. Involvement of bulbar muscles leads to difficulty chewing and
swallowing and the risk of aspiration. Respiratory depression may require
artificial ventilation. The maximum muscle weakness may occur only 204
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weeks after the onset of illness. Although full recovery may be expected
in 95% of cases, this may take up to 2 years. CSF protein is raised after 2
weeks but white cells are negative, there is also a reduction in nerve
conduction velocities. Management is supportive, particularly of
respiration. This disorder is probably due to the formation of antibody
attaching itself to protein components of myelin. Corticosteroids have no
beneficial effect and may even delay recovery. Ventilator supported
periods can be significantly reduced by IVIG or plasma exchange.

Bell Palsy

This is an isolated lower motor neurone paresis of the 7
th
cranial nerve
leading to facial weakness. Although the aetiology is unclear, it is
probably post-infectious with an association with HSV in adults.
Corticosteroids may be of value in reducing oedema in the facial canal
during the first week but acyclovir has shown no benefit. Recovery is
complete in the majority of places but can take several months. The main
complication is conjunctival infection due to incomplete eye closure on
blinking. If an 8
th
nerve palsy is also present then this may be a
compressive lesion at the CPA. Hypertension should also be excluded as
there is an association between Bell palsy and coarctation of the aorta. If
bilateral then suspect sarcoidosis or Lyme disease.

Charcot Marie Tooth

This involves distal muscle wasting and sensor loss with proximal
progression over time. It is usually autosomal dominant (but can be
recessive) and may occur without family history. Onset is usually by the
age of 10 years with:
Muscle weakness and wasting starting with the intrinsic muscles of
the feet and gradually affecting the lower legs and thighs. Sensory
loss is similar and will lead to ataxia. Pain and temperature
sensation are not usually affected
Generalised tendon areflexia
There may be foot drop and difficulty walking
Spinal deformities occur in 50% e.g. thoracic scoliosis
Other common signs and symptoms are hand tremors, muscle
cramps and acrocyanosis (blue extremities).

There are currently no effective treatments to stop or slow progression so
treatment is primarily supportive. Most patients have a normal life
expectancy.

CIDP (Chronic inflammatory Demyelinating Polyneuropathy)

This is an acquired, immune mediated inflammatory disorder of the PNS.
This is related to Guillain-Barre syndrome and is thought as the chronic
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version of this disease. This includes relapsing symptoms that present and
then go. Both proximal and distal limbs are affected with a sense of
weakness. Sensory affects include tingling and numbness but motor
symptoms generally predominate. Deep tendon reflexes are reduced and
gait is abnormal. It is most often idiopathic in origin but has links to
several other diseases including MS and SLE.

Spinal Muscular Atrophy

1. To be aware of the presentation of the different types

Spinal muscular atrophy is an autosomal recessive degeneration of the
anterior horn cells, leading to progressive weakness and wasting of
skeletal muscles due to mutations in the survival motor neurone (SMN)
gene. This is the second most common cause of neuromuscular disease in
the UK after DMD. A number of phenotypes are recognised:

Spinal muscular atrophy type 1 (Werdnig-Hoffmann disease) is a very
severe progressive disorder presenting in early infancy. Diminished fetal
movements are often noticed in pregnancy and there may be
arthrogryposis (positional deformities of the limbs with contractures of at
least two joints) at birth. Typical signs include:
Lack of antigravity power in hip flexors
Absent deep tendon reflexes
Intercostal recession
Fasciculation of the tongue
These children never sit unaided. Death is from respiratory failure within
about 12 months.

There are milder forms of this disorder with a later onset. Children with
type 2 spinal muscular atrophy can sit, but never walk independently.
Those with type 3 (Kugelberg-Welander) do walk and can present later in
life.

Oncology and Haematology

Acute Lymphoblastic Leukaemia

1. Be able to describe the epidemiological risk for malignancy in childhood
and adolescence, demonstrate knowledge of the age incidence profiles of
different malignancies

Childhood malignancy affects 1 in 500 by 15 years of age. It occurs in
1500 people in the UK each year. The distribution of these cancers is as
follows:
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Leukaemia 32%
Brain and spinal tumours 24%
Lymphomas 10%
Neuroblastoma 7%
Soft tissue sarcomas 7%
Wilms tumours 6%
Bone tumour 4%
Retinoblastoma 3%
Others 7%

As with regards to the age incidence profile, it is easier to discuss this
within each individual malignancy. A general guide is that leukaemias
affect children at all ages (although there is an early childhood peak),
Neuroblastoma and Wilms tumour are almost always seen in the first 6
years of life, and Hodgkin Lymphoma and bone tumours have their peak
incidence in adolescence and early life.

2. Be able to describe the common presenting symptoms and signs

ALL accounts for 80% of leukaemia in children and is excess proliferation
of lymphocytes. A large number of immature lymphocytes are produced
rapidly so this condition can progress quickly. Clinical presentation peaks
at 2-5 years and the signs and symptoms results from disseminated
disease and systemic ill health from infiltration of the bone marrow or
other organs with leukaemic blast cells. In most children leukaemia
presents insidiously over several weeks but can progress very quickly.
The signs and symptoms can be classified according to their cause:
General malaise and anorexia
Bone marrow infiltration anaemia (lethargy), neutropenia
(infection), thrombocytopenia (bruising, petechiae, nose bleeds)
and bone pain
Reticulo-endothelial infiltration hepatosplenomegaly,
lymphadenopathy and uncommonly superior mediastinal obstruction
Other organ infiltration CNS (nerve palsies, headaches, vomiting)
and testes (testicular enlargement)

3. The approaches to establishing a diagnosis and initial management
aimed at preserving life with respect to transfusion of blood and platelets
and the risk of metabolic and clotting abnormalities

Investigations should include a FBC. In most children this will be
abnormal with a low haemoglobin, thrombocytopenia and evidence of
circulating leukaemic blast cells. Bone marrow examination is essential to
confirm the diagnosis and to identify immunological and cytogenetic
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characteristics which give useful prognostic information. A chest x-ray is
requires to identify mediastinal masses, characteristic of T-cell disease.

The following is a treatment schema for standard-risk acute lymphoblastic
leukaemia:

Weeks of Treatment Stage Treatment
Diagnosis Induction Vincristine. Steroids, IT
methotrexate and L-
Asparaginase
5-8 weeks Consolidation and CNS
protection
IT methotrexate, vincristine,
steroid, thiopurine
8-16 weeks Interim maintenance Monthly vincristine and
pulsed 5 day steroids. Daily
6-mercaptopurine. Weelly
oral methotrexate, IT
methotrexate and
prophylactic co-trimoxazole
16-23 weeks Delayed intensification Vincristine, IT methotrexate,
dexamethasone plus others
23 weeks -2/3 years Continuing maintenance Same as interim maintenace

Blood transfusions of both platelets and whole red cells are used to
reduce symptoms rather than cure the patient. In ALL, patients may have
low platelets leading to bruising and bleeding and hence a platelet
transfusion can help reduce this. The patient may also be anaemic so red
cells will reduce their breathlessness.

Before and during the initial induction phase of chemotherapy patients
may develop tumour lysis syndrome which refers to the metabolic
derangements cause by the systemic and rapidly release of intracellular
contents as chemotherapy destroys leukaemic blast cells. Effects are
hyperuricaemia, hyperphosphataemia, hypocalcaemia and hyperkalaemia.
To prevent complications electrolyte and uric acid levels should be
monitored along with IV fluid therapy. Allopurinol may also be given.

4. Be aware of the treatment regimes available and the theory of their
actions

Remission induction before starting treatment of the disease, anaemia
may require correction with blood transfusion, the risk of bleeding
minimised by transfusion of platelets, and infection must be treated.
Addition hydration and allopurinol are given to protect renal function
against the effects of rapid cell lysis. Remission implies eradication of the
leukaemic blast cells and restoration of normal marrow function. Four
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weeks of combination chemotherapy is given and current induction
treatment schedules achieve remission rates of 95%.

Intensification a block of intensive chemotherapy is given to consolidate
remission and this improves cure rate at the expense of increased toxicity

CNS cytotoxic drugs penetrate poorly into the CNS. As leukaemic cells
in this site may survive effective systemic treatment, additional treatment
with intrathecal chemotherapy is used to prevent CNS relapse.

Continuing therapy chemotherapy of modest intensity is continued over
a relatively long period of time, up to 3 years from diagnosis. Co-
trimoxazole prophylaxis is given routinely to prevent pneumocystis carinii
pneumonia.

Treatment of relapse high dose chemotherapy, usually with total body
irradiation and bone marrow transplantation, is used as an alternative to
conventional chemotherapy after a relapse.

5. Be able to demonstrate an understanding of tumour staging and
prognostic factors and their influence on treatment selection, and trials
based approaches to therapy

Prognostic factors

Prognostic Factor High-risk Features
Age <1 Year or >10 years
Tumour load (measured by WBC) >50 x 10
9
/L
Cytogenetic/molecular genetic
abnormalities in tumour cells
e.g. MLL rearrangement
Speed of response to initial
chemotherapy
Persistence of leukaemia blasts in the
bone marrow
Minimal residual disease assessment
(MRD) (submicroscopic levels of
leukaemia detected by PCR)
High
Gender Male
Spread CNS involvement

Apparently ALL is not staged but rather grouped into high or low risk by
the above table. The tumour cells can however be classified:
L1 small uniform cells
L2 large varied cells
L3 large varied cells with vacuoles

Different forms of ALL require different approaches to treatment. The
typical treatment has been mentioned. With a T-cell ALL the addition of
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cyclophosphamide and intensive treatment with asparaginase is
beneficial. Mature B-cell needs treating like a lymphoma with short-term
intensive chemotherapy including high dose methotrexate.

Iron Deficiency Anaemia

1. Know the normal physiological changes affecting blood count data from
neonate to adolescent of all cell types (red, white and platelets)

Haemopoiesis is the process which maintains lifelong production of
haemopoietic blood cells. The main site of haemopoiesis in fetal life is the
liver, whereas throughout postnatal life it is the bone marrow. All
haemopoietic cells are derived from pluripotent stem cells which are
crucial for normal blood production. The most important difference
between fetal and postnatal life, in regards to haemopoiesis, is the
changing pattern of haemoglobin. Fetal haemoglobin (HbF) is made of two
alpha units and two gamma units and has a higher affinity for oxygen
then adult haemoglobin HbA which is made of two alpha units and two
beta units. HbF is gradually replaced by HbA in the first year of life and by
one the percentage of remaining HbF is very low.

At birth the Hb in term infants is high, 14-21.5 g/dl, to compensate for
the low oxygen concentration in the fetus. The Hb falls over the first few
weeks, mainly due to red cell production, reaching a value of around 10
g/dl at 2 months of age. Stores of iron, folic acid and vitamin B12 in term
and preterm infants are adequate at birth. However these stores are
lower in preterm infants so are quickly depleted in the first few months of
life. White blood cell counts in neonates are higher (10-20 x 10
9
/l
compared with 4.5-13) than in older children but platelet count is similar
to that of an adult (150-450 x 10
9
/l).

Anaemia is defined as an Hb level below the normal range and as these
ranges vary with age the anaemia can be defined as:
Neonate: Hb <14
1-12 months: Hb <10
1-12 years: Hb <11
Anaemia may result from reduced red cell production, increased red cell
destruction or blood loss.

2. Be able to explain the reasons for the physiological changes in
haemoglobin concentration with respect to growth, development and
nutrition from neonatal period through to adulthood

See above

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3. Understand the importance of dietary factors affecting blood
composition including iron, folic acid and vitamin B12

Iron deficient anaemia may be caused by inadequate intake,
malabsorption or blood loss (rare). It is common in infants because
addition iron is required for the increase in blood volume accompanying
growth and to build up the childs iron stores. Iron can come from breast
milk (50% absorbed by far the best source), formula, cows milk or
solids. Iron deficiency may develop due to a delay in weaning beyond 6
months. Iron is best absorbed with vitamin c and without tannin from tea
(or red wine!).

Clinical features are usually not present until below 6-7 g/dl at which
point the child will tire easily and feed more slowly than usual. They may
appear pale but this is an unreliable sign unless confirmed by the
conjunctiva, tongue or palmar creases. Some children have pica which is
the inappropriate eating of non-food materials.

Most management is dietary advice and oral supplementation if needed. If
there is still not a gain then malabsorption should be investigated. The
need of a blood transplant is incredibly rare.

Folate is vital as it provides the constituents to produce red cells and
without it then the body cannot make enough cells so a macrocytic
megaloblastic anaemia occurs. B12 is also vital for DNA synthesis so will
have a similar effect if there is a deficiency.

4. Be able to explain the changes in lymphocytes and neutrophil counts
from neonatal period to adulthood and how they might be used to detect
infection, immunodeficiency states and malignant disorders of the blood

As mentioned above the counts will drop slightly with age. If they are
below the reference values then there may be immunodeficiency. If they
are above reference values then there may be an infection and there can
be a malignant disorder of the blood with either of these presentations
but it is generally a drop in white cells.

ITP/Thrombocytopenia

1. Be able to describe the common ways that bleeding disorders present
in childhood as congenital (e.g. congenital ITP, haemophilia) or acquired
conditions (e.g. ITP or disseminated intra-vascular coagulation)

Page | 293

Thrombocytopenia is a platelet count <150 x 10
9
/L. The risk of bleeding
depends on the platelet level below this. At <20 the risk of bleeding
spontaneously is high. At 20-50 the risk of excess bleeding during trauma
or surgery is increased. At 50-150 there is a low risk of bleeding unless
there is a major operation or serious trauma. This condition may result in
bruising, petechiae, purpura and mucosal bleeding (epistaxis, bleeding
gums etc). Major haemorrhage in the form of GI bleeds or intracranial
bleeds are much less common.

Haemophilia will be covered in its own objective

Immune thrombocytopenia (ITP)

This is a condition that can be both congenital and acquired. It is the
commonest form of thrombocytopenia in children with an incidence of 4 in
100,000 children per year. It is usually caused by the destruction of
circulating platelets by anti-platelet IgG autoantibodies. The reduce
platelet count may be accompanied by a compensatory increase in
megakaryocytes in the bone marrow.

Most children present between the ages of 2 and 10 years with onset
often 1-2 weeks after viral infection. In the majority of children there is a
short history of days or weeks. Affected children develop petechiae,
purpura and/or superficial bruising. It can cause epistaxis and other
mucosal bleeding but profuse bleeding is uncommon, despite the fact that
the platelet count often falls below 10. Intracranial bleeding is a rare
complication but serious, affected 0.1-0.5%. ITP is a diagnosis of
exclusion and can also be caused by a congenital syndrome in children.
Any atypical features such as anaemia, neutropenia, hepatosplenomegaly
or marked lymphadenopathy should prompt a bone marrow investigation
to exclude acute leukaemia or aplastic anaemia. SLE should also be
considered. However if features are all typical then a bone marrow
examination is not needed.

In about 80% of children the disease is acute, benign and self-limiting,
usually remitting spontaneously within 6-8 weeks. Most children can be
managed at home and do not require admission. However treatment
should be given if there is evidence of major bleeding or persistent minor
bleeding. Treatment options include oral prednisolone, IV anti-D or IVIG.
Platelet transfusions are reserved for life threatening haemorrhage as
they only work for a few hours.

Chronic IPT occurs in 20% and is where the platelet count remains low for
over 6 months. Mostly supportive treatment is given unless bleeding is
excessive. Again SLE should be screened for and finally a splenectomy
can help if all else fails.

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Disseminated intravascular coagulation

See below section on DIC

2. Be able to outline the principles of acute and chronic management of
bleeding disorders of childhood dependent upon their cause

The management of most bleeding disorders (both acute and chronic) has
been mentioned above or in the haemophilia section below. However I will
mention von Willebrand disease (vWD) and how to differentiate the
conditions from each other using the history.

Von Willebrand disease

Von Willebrand disease results from either a quantitative or qualitative
deficiency in von Willebrand factor (responsible for platelet adhesion and
as a carrier protein for factor VIII). This causes a defective plug formation
and since vWF is a carrier protein for factor eight, patients with vWD also
are deficient for this factor. There are many different mutations and the
inheritance is usually dominant. The commonest subtype, type 1 (60-
80%), is usually fairly mild and is often not diagnosed until puberty or
adulthood. Clinical features are bruising, prolonged bleeding after surgery
and mucosal bleeding. Spontaneous soft tissue bleeding is uncommon.

Treatment depends on severity but can be treated with DDAVP which
causes secretion of both factor eight and vWF into the plasma. Use in
caution in under 1 year as it can cause hyponatraemia and seizures if fluid
intake is not adequate. More severe forms need treating with plasma
derived factor eight. IM injections, aspirin and NSAIDs should all be
avoided.

Acquired disorders of coagulation

The main acquired conditions are haemorrhagic disease of the newborn
(vitamin K deficiency), liver disease, ITP and DIC. Inadequate intake,
malabsorption or vitamin K antagonists can all be a cause.

Differentiating

Age of onset
Neonate 20% of haemophilias present here
Toddler haemophilias may present when starting to walk
Adolescent vWD with menorrhagia

Family history
If all boys then suggests haemophilia

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Bleeding history
If bleeding is ok in some situations then it suggests a bleeding
tendency rather than an inherited disorder.
Drug history
NAI

Pattern of bleeding
Mucous membranes and skin platelet disorders or vWD
Bleeding into muscles or joints haemophilia
Scarring and delayed haemorrhage suggestive of disorders of
connective tissue

3. Offer children (or their carers) with low platelet counts health advice
relating to their condition

See above for specific information but it is generally to avoid injury, know
the available treatments and have an action plan if severe haemorrhage
occurs.

Haemolytic Anaemia

1. Be able to describe the common presentation of haemolysis during
childhood and the selection of tests to identify haemolysis as a
phenomenon

In haemolytic anaemia there is a reduced red cell lifespan due to
increased intravascular and extravascular (spleen and liver) destruction of
RBC, there is shortened RBC lifespan and when the bone marrow is
unable to compensate any further there is anaemia. The signs of anaemia
are reticuloendothelial hyperplasia (leading to hepatosplenomegaly),
unconjugated bilirubin increase and increased urinary urobilinogen. In
neonates autoimmune haemolytic anaemia is common but in children the
most common cause are red cell membrane disorders, red cell enzyme
disorders and haemoglobinopathies.

Hereditary spherocytosis

1 in 5000 live births with 25% spontaneous and 75% autosomal
dominant. The mutation in the genes encoding RBC skeletal proteins
causes the RBC to lose some of its membrane as it goes through the
spleen. The cell becomes spheroidal and is destroyed in the
microvasculature of the spleen.
Signs and symptoms jaundice, anaemia, splenomegaly, gallstones
(due to increased bilirubin) and may present with aplastic crisis
Investigations a blood film
Page | 296

Management folate supplementation in mild disease. In severe
forms a splenectomy should be considered.

G6PD deficiency

Commonest red cell enzyme problem worldwide and has a high
prevalence in those from central Africa. It is an x-linked condition but
female carriers have about 50% function and are clinically normal. G6PD
usually stops oxidative damage to the cell.
Signs and symptoms neonatal jaundice in the first 3 days or with
acute haemolysis precipitated by infection, drugs, broad beans etc.
There may also be fever, malaise and haemoglobin in the urine.
Investigations Between episodes of haemolysis the patient is
normal. Measurement of the G6DP activity in cells is diagnostic.
Management awareness to avoid certain drugs and foods. In some
acute instances exchange transfusion may be needed.

Pyruvate Kinase Deficiency

2
nd
most common cause of haemolytic anaemia and is due to a lack of an
enzyme vital in the final stage of glycolysis leading to a decrease in ATP.
This causes the cell to become more rigid and be destroyed in the spleen.

Thalassaemia and Sickle cell disease will be talked about in their own
objectives

Haemophilia

1. Understand the genetics, presenting features and management

This is the commonest severe inherited coagulation disorder and consists
of haemophilia A and B. Both have x-linked recessive inheritance. In
haemophilia A there is a factor 8 deficiency with a frequency of 1 in 5000,
and in haemophilia B there is a factor 9 deficiency with a frequency of 1 in
30,000 male births. Two-thirds have a family history.

The disorder can be graded into mild, moderate or severe depending on
the factor percentage (<1% severe, 1-5% moderate and >5-40% mild).
The hallmark is recurrent spontaneous bleeding into joints and muscles
which can lead to crippling arthritis if not properly treated. Most cases
present at the end of the first year of life when walking starts. Almost
40% present in the neonatal period with intracranial haemorrhage, oozing
from the heel prick or post circumcision.

Treatment is recombinant factor 8 or 9 depending on type A or B. It is
given my prompt IV infusion whenever there is bleeding. Raising the level
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to 30% is sufficient to treat minor bleeds, but it needs to be 100% for
surgery and maintained at 30-50% for 2 weeks after. Injections need to
be given every 12 hours or by infusion. Parents and children can be
taught to administer at home. Prophylactic factor 8 has been shown to be
beneficial in children by giving better joint function in later life.
Desmopressin may allow for mild haemophilia (stimulates factor 8
release) to be managed without the use of blood products. Specialised
physiotherapy support is needed to preserve muscle strength and avoid
damage from immobilisation.

Lymphoma

1. Describe the organ/system of origin, the typical signs and symptoms
and common clinical associations

Lymphoma is the neoplastic proliferation of cells in the lymphatic system
such as nodes, spleen and liver. They form solid tumours and can be
divided into Hodgkins and non-Hodgkins lymphoma. NHL is more
common in childhood whereas Hodgkins disease is more common in
adolescence.

Non-Hodgkins lymphoma predominately affects the lymph nodes. It
typically affects younger children. Presentation depends on the type of
disease, most T-cell malignancies can present as either NHL or ALL
(thought to be a spectrum of disease) characterised by mediastinal mass
(may cause superior vena cava obstruction) and bone marrow infiltration.
B cell malignancies present more commonly as NHL with localised lymph
node disease in the head, neck or abdomen (pain and intussusception).
Treatment is multi-agent chemotherapy. The majority of patients do well
and survival is over 80% for both T and B cell subtypes.

Hodgkins lymphoma is defined as the presence of reed-sternberg cells. It
is uncommon in those who are pre-pubertal and usually presents as
painless lymphadenopathy (larger and firmer than benign
lymphadenopathy seen in children), frequently in the neck. Clinical
presentation is often long and systemic symptoms (anorexia, weight loss
etc) are uncommon, even in advanced disease. Combination
chemotherapy gives a cure rate of over 80%

2. Outline the main features and differences of Non-Hodgkins (NHL T and
B cell) and Hodgkins lymphoma

Hodgkins lymphoma has reed-sternberg cells
Hodgkins lymphoma often starts in the upper body
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Hodgkins spreads very slowly and is very receptive to
chemotherapy and radiotherapy

3. Be aware of the long term complications of tumour treatment as a
consequence of chemotherapy, radiotherapy and surgery including how
development, growth, puberty and fertility can be affected.

Side effects of chemotherapy include hair loss, anaemia, infection,
bruising, sore mouth, nausea, vomiting, mood changes, irritability and
weight gain.

In the long term it can cause delayed puberty, reduced fertility, reduced
growth. Neurotoxicity, hepatotoxicity, renal toxicity, cardiotoxicity,
pulmonary toxicity, secondary cancer and psychological effects.

Neuroblastoma


Neuroblastoma and related tumours arise from neural crest tissue in the
adrenal medulla and sympathetic nervous tissue. It is a biologically
unusual tumour in that spontaneous regression sometimes occurs in very
young infants. There is a spectrum of disease from the benign to the
highly malignant. Neuroblastomas are most common before the age of 5.

At presentation most children have an abdominal mass but the primary
tumour can lie anywhere along the sympathetic chain from the neck to
the pelvis. Classically the abdominal primary is of adrenal origin but at
presentation the tumour mass is often large and complex, crossing the
midline and enveloping major blood vessels and lymph nodes.
Paravertebral tumours may invade through adjacent intervertebral
foramen and cause spinal cord compression. Over the age of 2 years,
clinical symptoms are mostly from metastatic disease, particularly bone
pain, bone marrow suppression causing weight loss, and malaise. Other
common symptoms include a limp and hepatomegaly.

Prognosis is poor the metastatic disease and is little over 30%.

Sickle Cell Disease

1. Be able to explain how the genetic mutations of haemoglobin lead to
the signs and symptoms of homozygous and heterozygous states of sickle
cell disease.
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This is now the commonest genetic disorder in children in many European
countries. Sickle cell is the collective name given to Haemoglobinopathies
in which HbS is inherited. The mutation caused leads to a change in an
amino acid from glutamine to valine. Sickle cell disease is most common
in patients whose parents are black and originate from tropical Africa or
the Caribbean. There are three main types of sickle cell disease and the
sickle trait:
Sickle cell anaemia (HbSS) patients are homozygous for HbS, i.e.
virtually all their Hb is HbS. They have small amounts of HbF and no
HbA because they have the sickle mutation in both B-globin genes.
HbSC disease (HbSC) affected children inherit HbS from one
parent and HbC from the other parents (HbC is formed as a result
of a different point mutation in B-globin) so they also have no HbA
because they have no normal B-globin genes
Sickle B-thalassaemia affected children inherit HbS from one
parent and B-thalassaemia trait from the other. They have no
normal B-globin genes and most patients can make no HbA and
therefore have similar symptoms to those with sickle cell anaemia.
Sickle trait inheritance of HbS from one parent and a normal B-
globin gene from the other parent, so approximately 40% of the
haemoglobin is HbS. They do not have sickle cell disease but are
carriers. They are asymptomatic and are only identified as a result
of blood tests.

In all forms of sickle cell disease, HbS polymerises within red blood cells
forming rigid tubular spiral bodies which deform the red cells into a sickle
shape. Irreversibly sickled red cells have a reduced life span and may be
trapped in the microcirculation, resulting in blood vessel occlusion and
therefore ischaemia in an organ or bone. This is exacerbated by low
oxygen tension, dehydration and the cold. Clinical manifestations vary, as
does severity. HbSS is the most severe form.

Clinical features:
Anaemia moderate (6-10 g/dl) with clinically detectable jaundice
from chronic haemolysis
Infection increased susceptibility to pneumococci and
H.influenzae. This is due to hyposplenism secondary to
microinfarction in the spleen.
Painful crises vaso-occlusive crisis causing pain may affect many
organs with varying frequency and severity but commonly the
hands and feet. The bones of the limbs and spine are most common
but this can also affect the chest and produce the need for
ventilation. Exposure to cold, dehydration, excessive exercise,
stress, hypoxia or infection can all exacerbate symptoms
Acute anaemia Sudden drop in haemoglobin from haemolytic
crisis (infection), aplastic crisis (parovirus) and sequestration crisis
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(sudden splenic or hepatic enlargement, abdominal pain and
circulatory collapse from accumulation of sickle cells in the spleen
Priapism needs treating promptly or there may be later erectile
dysfunction
Splenomegaly common in younger children than older

Long term problems:
Short stature and delayed puberty
Stroke and cognitive problems
Adenotonsillar hypertrophy
Cardiac enlargement from chronic anaemia
Heart failure from uncorrected anaemia
Renal dysfunction
Pigmented gallstones
Leg ulcers uncommon in children
Psychosocial problems education and behavioural difficulties

Management

Prophylaxis with full immunisation and daily oral penicillin throughout
childhood. Once daily folic acid is needed due to the increased demand.
Vaso-occlusive crises should be avoided by avoiding the cold,
dehydration, exercising excessively, undue stress or hypoxia. Treatment
of an acute crises should be analgesia and good hydration with oxygen if
needed.

Prognosis varies due to infection and around 3% die during childhood
from infection. Around 50% of patients with the most severe form will die
before 40.

2. Understand how it presents through population screening, at
symptomatic diagnosis and with intercurrent problems during chronic
illness management

Much of this is mentioned above but I will talk about prenatal diagnosis
and screening.

Many countries with a high prevalence of haemoglobinopathies, including
the UK, perform neonatal screening on dried blood spots (Guthrie test)
collected in the first week of life. Early diagnosis of sickle cell disease
allows penicillin prophylaxis to be started in early infancy instead of
awaiting clinical presentation, possibly due to infection. Prenatal diagnosis
can be carried out by chorionic villus sampling at the end of the first
trimester if parents wish to choose this option to prevent the birth of an
affected child.

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Thalassaemia

1. Be able to explain how the genetic mutations of haemoglobin lead to
the signs and symptoms of homozygous and heterozygous states of
thalassaemia with particular attention to how they present through
population screening, at symptomatic diagnosis and with intercurrent
problems during chronic illness management

B-thalassaemias occur most often in people from the Indian subcontinent,
Mediterranean and Middle East. In the UK most affected children are born
to parents from the Indian subcontinent. In the past many were born to
Greek Cypriots, but this has become uncommon through active genetic
counselling within their community. There are two main types of B-
thalassaemia, both of which are characterised by a severe reduction in
the production of B-globin (and thereby reduction in HbA production). All
affected individuals have a severe reduction in B-globin and disease
severity depends on the amount of residual HbA and HbF production.
B-thalassaemia major this is the most severe form of the disease.
HbA (alpha 2, beta 2) cannot be produced because of the abnormal
B-globin gene.
B-thalassaemia intermedia this form of the disease is milder and
of variable severity. The B-globin mutations allow a small amount of
HbA and/or a large amount of HbF to be produced.

Clinical features:
Severe anaemia, which is transfusion dependent from 3-6 months
of age, and jaundice
Failure to thrive/growth failure
Extramedullary haemopoiesis, prevented by regular blood
transfusions. In the absence of regular blood transfusions the
patient develops hepatosplenomegaly and bone marrow expansion;
the latter leads to the classical facies with maxillary overgrowth and
skull bossing.

Management: this is fatal without treatment so all patients are given
lifelong monthly blood transfusions. The aim is to keep haemoglobin
above 10 g/dl in order to reduce growth failure and prevent bone
deformation. Repeat transfusions can cause chronic iron overload which
can cause cardiac failure, liver cirrhosis, diabetes, infertility and growth
failure. Therefore all patients are treated with iron chelation from the age
of 2-3 years. Patients who comply have a 90% chance of reaching 40
years. An alternative option is bone marrow transplant which is curative.
This is reserved for patients with a compatible sibling where there is a
95% chance of success.

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Prenatal diagnosis: in parents who are both heterozygous there is a 1 in 4
chance of passing this condition to their child and a 50% chance of giving
them carrier status.

B-thalassaemia trait heterozygotes are usually asymptomatic. The red
cells are hypochromic and microcytic. Anaemia is mild or absent with a
disproportionate reduction in MCH and MCV. This can cause confusion
with iron deficiency anaemia but here the ferritin stores will be normal.

Alpha-thalassaemias involves the alpha-globin gene. Healthy individuals
have 4 alpha-globin genes. Having none of these causes alpha-
thalassaemia major, it mainly occurs in families of South East Asian origin
and presents in mid trimester with fetal hydrops (oedema and ascites),
from fetal anaemia, which is always fatal in utero, or within hours of
delivery. The only chance of long term survival is intrauterine transfusion
until birth and lifelong therapy after. With 3 deletions the anaemia is mild
to moderate and with 1 or 2 deletions the disease is asymptomatic.

Wilms Tumour


This is also called a nephroblastoma , originates from embryonic renal
tissue and is the commonest renal tumour of childhood. Over 80% of
patients present before 5 years of age and it is very rarely seen after 10
years of age.

Most children present with a large abdominal mass, often found
incidentally in an otherwise well child. Other clinical features include
abdominal pain, anorexia, anaemia, haematuria and hypertension.

Investigations include an ultrasound and/or CT/MR and show a
characteristic intrinsic renal mass distorting normal structures. Staging is
to assess for distant metastasis (usually to the lung) along with initial
tumour resectability and function of the contralateral kidney.

In the UK children receive initial chemotherapy followed by delayed
nephrectomy. After which the tumour is staged histologically and
subsequent treatment is planned according to the surgical and
pathological findings. Prognosis is good with more than 80% of all
patients being cured. Cure rate is 60% if with metastasis but recurrence
carries a poor prognosis.

Wilms tumour is associated with overgrowth syndromes and trisomy 18.

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Bone tumours

1. Be aware of the features of soft tissue sarcomas, osteosarcoma and
Ewings tumour

Soft Tissue Sarcomas

Rhabdomyosarcoma is the most common form of soft tissue sarcoma in
childhood. The tumour is thought to originate from primitive
mesenchymal tissue and there are a wide variety of primary sites,
resulting in varying presentation and prognosis.

The head and neck are most commonly involved (40%) causing proptosis,
nasal obstruction or blood stained nasal discharge. Genitourinary tumours
may involve the bladder, paratesticular structures or the female
genitourinary tract. Symptoms include dysuria and urinary obstruction,
scrotal mass or blood stained vaginal discharge. Metastatic disease (lung,
liver, bone or marrow) is present in around 15% of patient at diagnosis
and is associated with a particularly poor prognosis.

Biopsy and full radiological assessment of primary disease and any
evidence of metastasis is needed. Management is multimodality treatment
with chemotherapy, radiotherapy and surgery and varies depending on
size, site and extend of disease. Overall cure rate is approximately 65%.

Bone tumours

Malignant bone tumours are uncommon before puberty. Osteogenic
sarcoma is more common than Ewing sarcoma but Ewing sarcoma is seen
more often in younger children. Both have a male predominance.

The limbs are the most common site. Persistent localised bone pain is the
characteristic symptom, usually preceding the detection of a mass, and is
an indication for early x-ray. At diagnosis most patients are otherwise
well.

Plain x-ray is followed by MRI and bone scans. A bone x-ray shows
destruction and variable periosteal new bone formation. In Ewing sarcoma
there is often a substantial soft tissue mass. Chest CT is used to assess
for lung metastases and bone marrow sampling to exclude marrow
involvement.

In both tumours the treatment involves the use of combination
chemotherapy given before surgery. Whenever possible, amputation is
avoided by using en bloc resection of tumours with endoprosthetic
resection. In Ewing sarcoma radiotherapy is also used in the management
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of local disease, especially when surgical resection is impossible or
incomplete, e.g. in the pelvis or axial skeleton.

DIC

1. Outline the main causes and the clotting abnormalities

This describes a disorder of coagulation pathway activation leading to
diffuse fibrin deposition in the microvasculature and consumption of
coagulation factors and platelets. The commonest cause is severe sepsis
or shock due to circulatory collapse e.g. meningococcal septicaemia or
extensive tissue damage from trauma or burns. DIC can be acute or
chronic. The predominant clinical features are bruising, purpura and
haemorrhage. DIC should be suspected when there is thrombocytopenia,
prolonged prothrombin time, prolonged APTT, low fibrinogen, raised
fibrinogen degradation products and D-dimers and microangiopathic
haemolytic anaemia. There is also usually a marked reduction in the
naturally occurring anticoagulants, protein C and S and antithrombin.

The most important part of management is to treat the underlying cause
(usually sepsis) whilst providing intensive care. Supportive care may be
provided by fresh frozen plasma, cryoprecipitate and platelets.
Antithrombin and protein C concentrates have also been used.

Retinoblastoma

1. Be aware of the common presenting features

Retinoblastoma is a malignant tumour of the retinal cells and, although
rare, it accounts for about 5% of severe visual impairment in children. It
may affect one or both eyes. All bilateral tumours are hereditary, as are
about 20% of unilateral cases. The retinoblastoma susceptibility gene is
on chromosome 13, and the pattern of inheritance is dominant, with
incomplete penetrance. Most cases present within the first 3 years of life.
Children from families with the hereditary form of the disease should be
screened regularly from birth.

The most common presentation of unsuspected disease is when a white
pupillary reflex is noted to replace the normal red one, or with a squint.
MRI and examination under anaesthetic are requires and tumours are
frequently multifocal.

The treatment am is to cure, yet preserve vision. Biopsy is not
undertaken and treatment is based on the ophthalmological findings.
Enucleation of the eye may be necessary for more advances disease.
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Chemotherapy is used, particularly in bilateral disease, to shrink the
tumour(s), followed by local laser treatment to the retina. Radiotherapy
may be used in advanced disease, but it is more often reserved for
treatment of recurrence. Most patients are cured, although many are
visually impaired. There is a significant risk of second malignancy
(especially sarcoma) among survivors of hereditary retinoblastoma.

Splenectomy

1. Be able to discuss the justification of and the risks and precautions
necessary to take prior to splenectomy.

A variety of chronic illnesses, such as hereditary spherocytosis, lymphoma
or idiopathic thrombocytopenic purpura (IPT) may make it necessary to
remove a spleen. While rare, trauma to the spleen with uncontrolled
bleeding can create a situation where emergency spleen removal is
necessary. Prior to splenectomy immunisations are given to prevent
pneumococcus, Hib, meningococcus and influenza. Low dose antibiotics
are likely to be needed for life after this operation and a high dose course
should be kept around the house just in case. There is also a particularly
high risk of developing malaria in patients without a spleen so caution
should be taken when travelling abroad. It is recommended that the child
wears a special bracelet or necklet containing this medical information.

Endocrinology/Growth]

Hypoglycaemia

1. Understand the diagnostic criteria and causes of hypoglycaemia from
infancy through to adolescence

This topic is broken up into neonatal hypoglycaemia and then
hypoglycaemia after this period.

Neonatal

Hypoglycaemia is particularly likely in the first 24 hours of life in babies
with IUGR, who are preterm, born to mothers with diabetes mellitus, are
large for date, hypothermic, polycythaemic or ill for any reason. Growth
restricted and preterm infants have poor glycogen stores, whereas the
infants of a diabetic mother have sufficient glycogen stores but
hyperplasia of the islet cells in the pancreas causes high insulin levels.
Symptoms are jitteriness, irritability, apnoea, lethargy, drowsiness and
seizures, sweating, tachycardia, tachypnoea and coma.

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There is no agreed definition of hypoglycaemia in the newborn. Many
newborn babies tolerate low blood glucose levels in the first few days of
life, as they are able to utilise lactate and ketones as energy stores.
Recent evidence suggest that blood glucose levels above 2.6 mmol/L are
desirable for optimal neurodevelopmental outcome, although during the
first 24 hours after birth many asymptomatic infants transiently have
blood glucose levels below this. Long term symptomatic hypoglycaemia
can cause permanent neurological disability.

Children

After the neonatal period hypoglycaemia is uncommon in non-diabetics. It
is often defined as a plasma glucose <2.6 mmol/L, although the
development of clinical features will depend on whether other energy
substrates can be utilised. Clinical features include sweating, pallor, and
CNS signs (irritability, headache, seizures and coma). If persistent then
epilepsy or severe learning difficulties may develop. The risk is highest in
early childhood when there is the most rapid brain growth.

Infants have a high energy requirement and relatively poor reserves of
glucose from Gluconeogenesis and glycogenesis. Infants should hence
never be starved for more than 4 hours e.g. preoperatively.

Causes in children after the neonatal period include:
Fasting probably the most common cause
Insulin excess excess exogenous insulin (e.g. diabetes), beta-cell
tumours (insulinoma), drug induced (sulphonylurea), autoimmune
(insulin receptor antibodies) and beckwith syndrome
Without hyperinsulinaemia liver disease, ketotic hypoglycaemia of
childhood, inborn error of metabolism e.g. glycogen storage
disorders, and hormonal deficiency (low GH, ACTH, Addison disease,
and congenital adrenal hyperplasia)
Galactosaemia
Fructose intolerance
Maternal diabetes
Hormonal deficiency
Aspirin/alcohol poisoning

Ketotic hypoglycaemia is a poorly defined entity in which young children
readily become hypoglycaemic following a short period of starvation,
probably due to limited reserves for gluconeogenesis. The child is often
short and thin and the insulin levels are low. Regular snacks and extra
glucose drinks are used as management and children should grow out of
this.

Transient neonatal hypoglycaemia is common in neonates who have been
exposed to high insulin levels in utero. In contrast, recurrent severe
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neonatal hypoglycaemia may be cause by persistent hypoglycaemic
hyperinsulinism of infancy. This is due to a dysregulation of insulin release
by the islet cells of the pancreas.

2. Outline the initial treatment and investigations of hypoglycaemia

Hypoglycaemia can usually be prevented by early and frequent milk
feeding. In infants at increased risk of hypoglycaemia, blood glucose is
regularly monitored at the bedside. If an asymptomatic infant has two low
glucose values (<2.6) in spite of adequate feeding, or one very low value
(<1.6) or becomes symptomatic then glucose is given by IV infusion
aiming to maintain glucose at 2.6 mmol/L. The concentration of IV
dextrose may need to be up to 20%. Abnormal blood glucose results are
confirmed in the laboratory. High IV infusion should be given via a central
venous catheter to avoid extravasation. Usually IV dextrose 2-4ml/kg of
10% dextrose is given. Investigations should also include GH, cortisol,
insulin, c-peptide, fatty acids, ketones, glycerol, lactate and Pyruvate.

If there is a failure to administer therapy or a reduced response then IM
glucagon can be given (0.5-1mg). Corticosteroids may also be used if
there is a possibility of hypopituitarism or hypoadrenalism.

IDDM/DKA

1. Outline the epidemiology of diabetes in children

The incidence of diabetes in children has increased steadily over the last
20 years and now affects around 2 per 1000 children by the age of 16
years. It has been estimated that the incidence of childhood diabetes will
double by 2020 in developed countries. There is considerable racial and
geographical variation with the condition being more common in northern
countries such as Scotland and Finland. Almost all children with type 1 DM
require insulin from the outset. An identical twin of a diabetic has a 30-
40% change of developing the disease and the risk is 1/40 if the father is
affected or 1/80 if the mother is.

2. Be aware of the associated problems/diseases

I will just talk about acute things here and more chronic problems in the
complications section.

Children usually present with only a few weeks of polyuria, excessive
thirst and weight loss; young children may also develop secondary
nocturnal enuresis. Most children are diagnosed at this early stage and
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advanced diabetic ketoacidosis has become an uncommon presentation.
Less common symptoms include enuresis, skin sepsis and candida
infection.

This is diagnosed by a glucose >11.1 mmol/L, glucosuria and ketonuria. If
there is doubt then a fasting glucose should be >7 mmol/L to be positive,
or a raised HbA
1c
can be checked. Type 2 diabetes should be suspected if
there is a family history, the child is from the Indian subcontinent, and in
severely obese children with signs of insulin resistance.

3. Understand the principles of non-medical and medical treatment

Initial management depends on the patients condition but may require
hospital admission and treatment. Most children are alert and can be
managed by subcutaneous insulin alone. IV fluids are given if there is
vomiting or dehydration. An intensive educational program is then given
which includes the basic understanding, injection techniques, diet,
adjustments of insulin for sickness or exercise, blood glucose checks,
recognition of hypoglycaemia, where to get help, support groups and
psychological support.

Insulin

Insulin is modified to be human and is in concentrations of 100units/ml.
There are four main types of insulin:
Rapid acting rapid onset, short duration
Short acting onset in 30-60 minutes and peak at 2-4 hours with
duration of 8 hours (given 15-30 minutes before a meal)
Intermediate acting onset after 1-2 hours and peak at 4-12 hours
Predetermined preparations of short and intermediate acting insulin
Insulin can be administered by an infusion or by pump or injection. It is
given subcutaneously in the upper arm, anterior and lateral thigh,
buttocks and abdomen. To avoid complications (i.e. lipohypertrophy) the
skin should be pinched and the needle inserted at 45 degrees, with sites
being rotated frequently.

Most infants are started on an insulin pump or 3-4 times/day injection
regimen (basal bolus) with short acting insulin before snacks (bolus) and
a long acting insulin in the evening (basal). Normally requirements are
0.5-1 U/kg in children but this can increase to over 2 U/kg/day in
puberty.

Diet

Should be matched to the insulin regimen and the aim is to maintain
control whilst getting good growth. High complex carbohydrates are
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recommended and relatively low fat content (<30% of calories). The diet
should be high in fibres and avoidance of foods that will cause rapid sugar
highs.

Blood glucose monitoring

Regular monitoring is important as insulin regimens can be changed
accordingly. The aim is to maintain blood glucose at 4-6 mmol/L but in
practice (to avoid hypoglycaemia) this is 4-10 in children and 4-8 in
adults. Subcutaneous glucose monitoring is being developed but is not yet
universally used. Measuring HbA
1c
is useful to check long term control
over 6-12 weeks and should be checked at least 3 times per year. The
level is related to long term risk and this is an exponential relationship
(i.e. a small increase in level equals a big increase in risk). The aim is to
keep the level below 7.5% or <58 mmol/mol.

Hypoglycaemia

Children usually develop well defined symptoms when blood glucose
drops below 4 mmol/L. These are the same as for hypoglycaemia
(mentioned above) and will be treated in the same way. Firstly a hypo
remedy should be tried such as a sugary drink (if possible) before moving
onto IM glucagon. Once a sugary drink has given another complex
carbohydrate should be given to maintain control.

Adolescence

Adherence is a massive problem here along with regular blood glucose
monitoring. This can be due to smoking, alcohol, drugs or due to body
image. This may be helped by establishing clear short-term goals, an
enthusiastic effort to improve long term control, a united team approach
and positive peer group pressure from activities. As mentioned previously,
in puberty the level of insulin needed will rise due to antagonism by GH,
oestrogen and testosterone.

4. Appreciate the need for multi-disciplinary team involvement

Heavily involved in all areas and this should be clear from the information
above and below.

5. Outline the short and long term complications

The aims of long term management are:
Normal growth and development
Maintaining a normal home and school life
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Good diabetic control through knowledge and technique
Encourage self reliance but with adult supervision initially
Avoidance of hypoglycaemia
Prevention of long term complications and maintenance of good
glucose control

Problems in diabetic control:
Eating too many sweets at parties or at school
Infrequent or unreliable blood glucose monitoring (sometimes made
up to impress doctor)
Illness these are common in the young and can affect appetite as
well as increase insulin need. Therefore the dose needs titrating
appropriately.
Exercise prolonged exercises requires a decrease in insulin and
more glucose, especially before going to sleep
Eating disorders common in young girls
Family disturbances divorce etc
Poor motivation and support

Prevention of long term complications

Meticulous control when young helps reduce the risk of diabetic
retinopathy or nephropathy and also slows progression. A good early
control can also help compensate if control deteriorates later on in life
(lower risk of complications). The complications that need assessment for
later life are:
Growth and pubertal development some delay may occur and
obesity is common, particularly in girls.
Blood pressure check once a year for hypertension
Renal disease screen for microalbuminuria yearly
Eyes retinopathy is rare in children but should be checked 5 years
after diagnosis or from the onset of puberty
Feet encourage good care and avoid tight shoes or infections by
treating early
Others coeliac disease and thyroid disease are commonly
associated with type 1 DM and are easily missed. There should also
be a low threshold for investigating other autoimmune disorders.

6. Describe the presenting features and initial management of DKA

Presentation is late with acetone on the breath, vomiting, dehydration,
abdominal pain, hyperventilation due to acidosis, hypovolaemic shock,
drowsiness, coma and death.

Essential early investigations include blood glucose (bedside and
laboratory), blood ketones, U&Es (dehydration), blood gas (acidosis),
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urinary glucose and ketones, evidence of precipitating cause i.e. infection
(blood and urine cultures), cardiac monitor for t-wave changes, due to
hypokalaemia, and weight.

Management priorities are as follows:
Fluids If in shock then give initial resuscitation with normal saline.
Dehydration needs correcting gradually over 48-72 hours as rapid
rehydration can lead to cerebral oedema. Monitor fluid input/output,
electrolytes, acid-base status, neurological state and consider
central venous line and urinary catheter if shocked.
Insulin infusion of 0.05-0.1 U/kg/hour after 1 hour, titrating
according to blood glucose. Do not give a bolus and monitor
regularly. Aim for a reduction of 2 mmol/h of blood glucose as rapid
reduction is dangerous. Change to 0.18% saline or 4% dextrose
after 24 hours when the blood glucose has fallen to 14 mmol/L to
avoid hypoglycaemia
Potassium although initially high, it will fall following treatment
with insulin and rehydration. Replacement is needed as soon as
urine is passed and continuous cardiac monitoring is important.
Acidosis avoid bicarbonate unless the child is shocked or not
responding to therapy. This should correct with fluids and insulin
but monitor capillary ketones.
Re-establish oral fluids, diet and subcutaneous insulin do not stop
infusion until 1 hour after subcutaneous insulin has been given
Identification and treatment of an underlying cause

Constitutional Delay In Growth

1. Be able to exclude pathological causes of short stature

Short stature is defined as a height below the 2
nd
centile or 0.4
th
centile.
Most of these children will be normal, though short, with short parents,
but the further the child is below these centiles, the more likely it is that
there will be a pathological cause. However the rate of growth may be
abnormal low before a childs height falls below these values. Measuring
height velocity is a sensitive indictor of growth failure. A height velocity
persistently below the 25
th
centile is abnormal and children will eventually
become short. The height centile must be compared to the weight centile
and an estimate of their genetic target centile and range calculated from
parental heights. There are many potential causes that will now be
mentioned.

Familial most short children have short parents but care needs to be
taken to ensure both parent and child do not have a genetic condition

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IUGR and extreme prematurity about a third of these children remain
short and GH treatment may be indicated

Constitutional delay of growth and puberty these children have delayed
puberty which is often familial, usually having occurred in the parent of
the same sex. It is commoner in males and is a variation of the normal
timing of puberty rather than an abnormal condition. It may be induced
by dieting or excessive exercise. A child will have delayed sexual changes
compared to peers and bone age would show moderate delay. The legs
will be long in comparison to the back. Eventually the target height should
be reached. Puberty can be started by androgens or oestrogen if needed.

Endocrine hypothyroidism, GH deficiency and steroid excess are
uncommon causes of short stature. They are associated with children
being relatively over weight,

Hypothyroidism this is usually caused by autoimmune thyroiditis during
childhood. This produces growth failure, usually with excess weight gain.
It can go undiagnosed for many years and cause short stature. When
treated, catch-up growth rapidly occurs but often with rapid entry into
puberty that can limit final height. Congenital hypothyroidism is usually
noted shortly after birth so will not have any long term effects on stature.

Growth hormone deficiency this is an isolated defect or secondary to
panhypopituitarism. Pituitary function may be abnormal in congenital
mid-facial defects or as a result of Craniopharyngioma, a hypothalamic
tumour or trauma such as head injury, meningitis and cranial irradiation.
In growth hormone deficiency the bone age is markedly delayed. Laron
syndrome is a condition due to defective growth hormone receptors
resulting in GH insensitivity.

Corticosteroid excess, Cushing syndrome usually iatrogenic. This effect
is reduced by alternative day therapy but some growth suppression may
be seen at even relatively low doses. Non-iatrogenic Cushing syndrome is
very rare in children and may be caused by pituitary or adrenal
pathology. Growth failure can be severe with excess weight gain although
these can resolve with withdrawal of treatment. If during puberty then
the effects can be permanent.

Nutrition/chronic illness a relatively common cause of abnormal growth.
These children are usually short and underweight. Inadequate nutrition
includes insufficient food, poor appetite or restricted diet. It can also be
due to an increased nutritional need due to disease. Chronic illnesses
which may present with short stature include coeliac disease, Crohn
disease and chronic renal failure.

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Psychosocial deprivation physical and emotional deprivation can cause
shortness, delayed puberty and a child to be underweight. Children can
show catch up growth if placed in a nurturing environment.

Chromosomal disorder/syndromes Down syndrome, Turner syndrome
and Russell-Silver syndrome may present with short stature.

Extreme short stature there are a few rare conditions that cause
extreme short stature in children. These include absolute resistance to GH
and primordial dwarfism.

Disproportionate short stature confirmed by measuring sitting height,
subischial leg length (sitting height minus standing height), and limited
radiographic skeletal survey. Conditions with abnormal body proportions
are rare and may be cause by disorders of the formation of bone (skeletal
dysplasia). They include Achondroplasia and other short-limbed
dysplasias.

2. Recognise the important features of other conditions presenting with
short stature e.g. Russell-Silver syndrome

Russell-Silver syndrome is a disorder present from birth that involves
poor growth, low birth weight, short height and differences in the size of
the two sides of the body. Symptoms include arms and legs length
differences, cafe-au-lait spots, failure to thrive, delayed bone age, short
height, swelling of the fingers/toes, GI reflux and kidney problems.

3. Be able to plot a growth chart and compare measurements of height
with predicted height based on parental measures

This is calculated as the mean of the fathers and mothers height with
7cm added for the mid-parental target height for a boy and 7cm
subtracted for a girl. The 9
th
-91
st
centile range of this estimate is given by
+/-10cm in a boy and +/-8.5cm in a girl.

Delayed Puberty

1. Define abnormalities with pubertal development

First it is probably best to outline normal puberty. In females breast
development shows its first signs at 8.5-12.5 years. Public hair growth
and a rapid height spurt occur almost immediately after breast
development. Menarche occurs on average 2.5 years after the start of
puberty and signs that growth is coming to an end, with only around 5cm
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height gain remaining. In males testicular enlargement occurs to >4ml
volume and is the first sign of puberty. Public hair growth follows
testicular enlargement usually between 10 and 14 years. A height spurt
occurs when the testicular volume is 12-15ml, after a delay of around 18
months. The height spurt in males occurs late and is often a great
magnitude than in females, accounting for the greater final average
height of males than females. In both genders there is acne development,
axillary hair, body odour and mood changes.

Delayed puberty is often defined as the absence of pubertal development
by 14 years of age in females and 15 years in males. In contrast to
precocious puberty the problem is more common in males, in whom it is
mostly due to constitutional delay in growth and puberty. This is often
familial, usually having occurred in the parent of the same sex. It may
also be induced by dieting or excessive exercise. These children have a
delay in puberty, height and bone maturation. Eventually the target
height will be reached as growth will continue for longer than their peers.

Causes of delayed puberty include:
Constitutional delay of growth and puberty
Low gonadotrophin secretion systemic diseases (e.g. CF, asthma,
crohns, anorexia), acquired hypothyroidism or hypothalamo-
pituitary disorders (intracranial tumours and growth hormone
insufficiency).
High gonadotrophin secretion chromosomal abnormalities, steroid
hormone enzyme deficiencies and acquired gonadal damage.

2. Outline basic investigations for delayed puberty

In boys an assessment should include pubertal staging (especially
testicular volume) and identification of chronic systemic disorders. In girls
karotype should be performed to identify Turner syndrome, and thyroid
and sex steroid hormones should be measured. The aims of management
are to identify and treat underlying pathology, ensure normal
psychological adaptation to puberty and adulthood, and to accelerate
growth if necessary.

If puberty is abnormally late or early then bone age measurements can
be taken by obtaining an x-ray of the hand and wrist. Pelvic ultrasound
may be used in females to assess uterine size and endometrial thickness.

Obesity

1. Define obesity and be aware of the risk factors for it in children

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In children the BMI is expressed as a BMI centile in relation to age and
sex-matched population. In the UK the 1990 chart is used. For clinical
use, overweight is a BMI>91
st
centile, obese is >98
th
centile, very severe
obesity is >3.5 SD above the mean and extreme obesity is >4 SD above
the mean. For children over 12 BMI is used and the above categories
become 25, 30, 35, 40 kg/m
2
.

The reason for the marked increase in prevalence is unclear but is
thought to be due to changes in environment and behaviour relating to
diet and activity. Energy dense foods are now widely consumed although
there is no conclusive evidence that obese children eat more than normal
children. Childrens energy expenditure has undoubtedly decreased.
Fewer children walk to school, transport in cars has increased, there is
less time in school doing physical activities and children spend more time
in front of small screens rather than playing outside. Children from lower
socioeconomic backgrounds are more likely to be obese. Females from
these backgrounds are 2.5 times more likely to be obese than the highest
quintile.

Complications are multiple and affect later life as well as the immediate.
Orthopaedic problems can occur include abnormal foot structure. There
may be idiopathic intracranial hypertension (headaches, blurred optic disc
margins). Hypoventilation syndrome can occur which is daytime
somnolence, sleep apnoea, snoring, hypercapnia and heart failure. There
is the risk of gall bladder disease, type 2 DM, hypertension, abnormal
blood lipids, polycystic ovarian syndrome, psychological sequelae and
other medical problems such as cancers and asthma.

2. Outline the management steps for obese children

Most children are managed in primary care but specialist assessment is
needed when complications occur or if an endogenous cause is suspected.
Treatment should be considered when the child is above the 98
th
centile
for BMI and the family are willing to make the necessary difficult lifestyle
changes. Weight maintenance is a more realistic goal than weight loss
and will result in a demonstrable fall in BMI on centile chart as height
increases. This can be achieved by:
Healthier eating no sugar containing juices or soft drinks,
decreased food portion size, increased protein and non-
carbohydrate containing vegetables, discourage snacking and
encourage family meals
An increase in habitual physical activity to 60 minutes of moderate
to vigorous daily physical activity
Reduce physical inactivity during leisure time to less than an
average of 2 hours per day.

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Drug and surgical options are also available. Drug treatment has a part to
play in children over the age of 12 who have extreme obesity (BMI>40)
or have a BMI >35 and complications of obesity. It is recommended that
drug treatment should only be considered after dietary, exercise and
behavioural approaches have been started. Orlistat is a lipase inhibitor
which reduces the absorption of dietary fat and thus produces
steatorrhoea. Fat intake should be reduced to avoid unpleasant GI side
effects. Metformin is a biguanide that increases insulin sensitivity,
decreases gluconeogenesis and decreases gastrointestinal glucose
absorption. Bariatric surgery is generally not considered appropriate in
children or young people unless they have almost achieved maturity,
have severe or extreme obesity with complications (e.g. Type 2 DM or
hypertension) and all other interventions have failed to achieve or
maintain weight loss.

3. List some common syndromes associated with obesity

Prader-Willi syndrome
Psuedohypoparathyroidism
Laurence-Moon-Biedl syndrome
Cohen syndrome
Down syndrome
Turner syndrome

Precocious Puberty

1. Define normal puberty development and precocious puberty

Normal puberty has been described in the delay in puberty section.

Premature development of secondary sexual characteristics before 8
years old in females and 9 years old in males is defined as outside the
normal range in the UK. It may be due to precocious puberty, premature
breast development or premature pubic hair development.

Precocious puberty (PP) may be categorised according to the level of
pituitary derived gonadotropins, follicle-stimulating hormone and
luteinising hormone as:
Gonadotropin dependent from premature activation of the
hypothalamic-pituitary gonadal axis
Gonadotrophin independent from excess sex steroids

Females
This is usually idiopathic or familial and follows the normal sequence of
puberty. Organic causes are rare and are associated with:
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Dissonance, when the sequence of pubertal change is abnormal e.g.
isolated pubic hair with virilisation of the genitalia, suggests excess
androgens from either congenital adrenal hyperplasia or an
androgen-secreting tumour
Rapid onset
Neurological symptoms and signs e.g. neurofibromatosis
Ultrasound examination of the ovaries and uterus is helpful in establishing
the cause of precocious puberty. In the premature onset of normal
puberty, multicystic ovaries and an enlarging uterus will be identified.

Males
This is uncommon and usually has an organic cause, particularly
intracranial tumours. Examination of the testes may be helpful:
Bilateral enlargement suggests gonadotropin release, usually from
an intracranial lesion
Small testes suggests an adrenal cause (e.g. a tumour or adrenal
hyperplasia)
A unilateral enlarged testis suggests a gonadal tumour
Tumours in the hypothalamic region are best investigated by cranial MRI
scan.

2. Outline initial investigations

Investigations are described above for girls and boys. Blood tests to
detect hormone levels are also very useful.

The management of precocious puberty is directed towards:
Detection and treatment of any underlying pathology, e.g.
intracranial tumour in males, and reducing the rate of skeletal
maturation if necessary. Skeletal maturation is assessed by bone
age. An early growth spurt may result in early cessation of growth
and a reduction in adult height.
Addressing psychological/behavioural difficulties associated with
early progression through puberty

Deciding whether to treat a girl who is simply going through puberty early
needs further consideration. If treatment is required for gonadotropin-
dependent disease gonadotropin-releasing hormone (GnRH) analogues
are the treatment of choice. In gonadotropin independent cases the
source of excess sex steroids needs to be identified. Inhibitors of
androgen or oestrogen production or action may be used.

Thyroid Disease

1. List the clinical features of hypo- and hyperthyroidism
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The fetal thyroid predominately produces reverse T
3
which is largely
inactive. After birth there is a surge in the level of TSH which is
accompanied by a marked rise in T
4
and T
3
levels. The TSH declines to the
normal adult range within a week. Preterm infants may have very low
levels of T
4
for the first few weeks of life, while the TSH is within the
normal range; under these circumstances additional thyroxine is not
required.

Detection of congenital hypothyroidism is important as it is relatively
common (1/4000) and is one of the few preventable causes of severe
learning difficulties. Causes include:
Maldescent of the thyroid and athyrosis the commonest cause of
sporadic congenital hypothyroidism. This is where the thyroid fails
to migrate or develop properly so remains as a small lingual mass.
Dyshormonogenesis an inborn error of thyroid hormone synthesis
in about 5-10% of cases, although this is commoner in some ethnic
groups and consanguineous marriages
Iodine deficiency the commonest cause of congenital
hypothyroidism worldwide but rare in the UK
TSH deficiency rare and is usually due to panhypopituitarism.

Clinical features include:
Congenital
Usually asymptomatic and found on screening
Failure to thrive
Feeding problems
Prolonged jaundice
Constipation
Pale, cold, mottled, dry skin
Coarse facies
Large tongue
Hoarse cry
Goitre
Umbilical hernia
Delayed development
Acquired
Females>males
Short stature/growth failure
Cold intolerance
Dry skin
Cold peripheries
Bradycardia
Thin, dry hair
Goitre
Pale puffy eyes with loss of eyebrows
Slow relaxing reflexes
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Constipation
Delayed puberty
Obesity
Learning difficulties

Hyperthyroidism is usually the result of Graves disease, secondary to the
production of thyroid stimulating immunoglobulins. The clinical features
are similar to those in adults, although eye signs are less common. It is
most often seen in teenage girls. The levels of T
4
and/or T
3
are elevated
and TSH levels are suppressed very low.

Clinical features include:
Anxiety, restlessness
Increased appetite
Sweating
Diarrhoea
Weight loss
Rapid growth in height
Advanced bone maturity
Tremor
Tachycardia, wide pulse pressure
Warm, vasodilated peripheries
Goitre
Learning difficulties
Psychosis
Eye signs (uncommon) Exophthalmos, ophthalmoplegia, lid
retraction and lid lag

2. Outline the investigations and management of these conditions

Hypothyroidism

Most infants with congenital hypothyroidism are detected on routine
neonatal biochemical screening (Guthrie test) by identifying a raised TSH
in the blood. However thyroid dysfunction secondary to pituitary
abnormalities may not be picked up at neonatal screening as they will
have low TSH. In some countries T
4
is also measured. Treatment with
thyroxine is started at 2-3 weeks of age. Early treatment is essential to
prevent learning difficulties. With neonatal screening the result of long
term intellectual development has been satisfactory and intelligence
should be in the normal range for most children. Treatment is lifelong
with oral replacement of thyroxine, titrating the dose to maintain normal
growth, TSH and T
4
levels.

Hyperthyroidism

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The first-line treatment is medical, with drugs such as carbimazole or
propylthiouracil that interfere with thyroid hormone synthesis. Initially B-
blockers may be given for symptomatic relief of anxiety, tremor and
tachycardia. There is a risk of neutropenia with anti-thyroid medication so
families should watch for signs of infection. Medical treatment is given for
2 years which should control the thyrotoxicosis, but the eye signs may
remain. When the treatment is stopped there is a 40-75% relapse. A
second course of drugs may be given or surgery considered. Radioiodine
is a simple treatment. With these procedures replacement thyroxine is
likely to be needed for life.

3. Understand the importance of early diagnosis of hypothyroidism in
children

Detailed above

Type 2 Diabetes

1. Be aware of the epidemiology, presenting features and early treatment
in children.

Type 2 diabetes is relatively rare in children but is becoming much more
common. Most paediatric cases of type 2 diabetes currently belong to the
minority communities. It tends to be commoner in girls and the range of
onset is generally 12-16 years.

Presenting features may include acanthosis nigricans, obesity and
hypertension. They have a strong family history and there is no thirst or
increased urination.

Treatment should include activity, diet, metformin and potential insulin
therapy where required.

Cushing Syndrome

1. Appreciate this is rare in children and know the causes

Glucocorticoid excess in children is usually a side-effect of long-term
glucocorticoid treatment for conditions such as asthma, nephrotic
syndrome or severe Bronchopulmonary dysplasia. Corticosteroids are
potent growth suppressors and prolonged use in high dosage will lead to
reduced adult height and osteopenia. This unwanted side-effect of
systemic corticosteroids is markedly reduced by taking corticosteroid
medication in the morning on alternate days.
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Other causes of glucocorticoid excess are rare. It may be ACTH-driven,
from a pituitary adenoma, usually in older children, or from ectopic ACTH-
producing tumours, but these almost never occur in children. ACTH-
independent disease is usually from corticosteroid therapy, but may be
from adrenocortical tumours when there may also be virilisation. A
diagnosis of Cushing syndrome is often questioned in obese children as
most obese children are above average height where as Cushing
syndrome children are short and have growth failure.

Clinical features include growth failure, short stature, face and trunk
obesity, red cheeks, hirsutism, striae, hypertension, bruising,
carbohydrate intolerance, muscle wasting and weakness, osteopenia and
psychological problems.

Diabetes Insipidus

1. Be aware of the clinical features and at risk children

Diabetes insipidus is the failure to produce ADH, this results in polyuria
and polydipsia as the urine cannot be concentrated. The patient may
become extremely dehydrated or may present with nocturnal enuresis.
Treatment is with the ADH analogue Desmopressin, normally for life. This
is a genetic condition so the children most at risk are those whose parents
or family suffer from the same condition. Clinical features can be difficult
in young children and are generally none specific such as failure to thrive,
poor feeding and irritability. The earliest signs include vigorous suck with
vomiting, fever without apparent cause, constipation and excessively wet
nappies. Nocturia is common and signs of dehydration may be present.

Growth Hormone Deficiency

1. Understand this is a rare condition but can be investigated and treated

Much of this is discussed in the constitutional delay in growth section. The
primary investigation would be a growth hormone provocation test using
insulin, glucagon, clonidine or arginine. Growth hormone deficiency is
treated with biosynthetic growth hormone, which is given by
subcutaneous injection, usually daily. It is expensive and the
management of this deficiency is undertaken at specialist centres. The
best response is seen in children with the most severe deficiencies. Other
indications include Turner syndrome, Prader-Willi syndrome, chronic renal
failure and IUGR. Recently recombinant IGF-1 has been used to treat
children with growth hormone resistance (Laron syndrome) and IGF-1
deficiency who would have previously not responded to GH treatment.
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Gynaecomastia

1. Identify the clinical features, causes and investigations

Gynaecomastia refers to male breast enlargement and occurs in around
half of boys (12-16 years old) as they go through puberty. This is
completely normal and will go away without treatment. Boys may notice a
small, firm, tender mass under one or both nipples which eventually
flatten out. The tenderness is only temporary and will go with time. In
rare cases it may be caused by drugs, OTC medicines, illegal drugs
(cannabis or steroids), tumours and certain genetic disorders (Klinefelter
syndrome).

Diagnosis is usually based on clinical examination and the knowledge that
the child is in puberty. A review of medication may be necessary and tests
can also be done although are rarely necessary. These might include
LFTs, plasma estradiol, plasma LH and plasma testosterone.

Prader-Willi Syndrome

1. List the features of the syndrome and outline the genetic basis

This occurs when a child has two copies of chromosome 15q11-13
inherited from the maternal side. Angelman syndrome occurs when there
are two copies of the same region inherited from the paternal side. It
currently affects 1 in 15,000-30,000 people but appears to be more
sporadic than familial.

There is obesity, poor linear growth (small stature), developmental delay,
dysmorphic facial features (smooth philtrum, round face), Hypotonia,
undescended testes (in the male), learning difficulties, behavioural
problems and hyperphagia with excessive appetite or food obsession.

Premature Thelarche/Pucarche

1. Define premature thelarche/pubarche and initial investigations

Thelarche premature breast development

This usually affects females between 6 months and 2 years of age. The
breast enlargement may be asymmetrical and rarely progresses beyond
stage 3. It is differentiated from precocious puberty by the absence of
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axillary and pubic hair and of a growth spurt. It is non-progressive and
self limiting. Investigations are not usually required.

Pubarche

This occurs when pubic hair develops before 8 years of age in females and
before 9 years in males but with no other signs of sexual development. It
is most commonly caused by an accentuation of the normal maturation of
androgen production by the adrenal gland (adrenarche). It is more
common in Asian and Afro-Caribbean children. There may be a slight
increase in growth rate. It is usually self limiting. An ultrasound scan of
the ovaries and uterus and a bone age should be obtained to exclude
central precocious puberty. A more aggressive course of virilisation would
suggest late-onset non-salt losing congenital adrenal hyperplasia (CAH) or
an adrenal tumour. Obtaining a urinary steroid profile helps differentiate
premature pubarche from late onset CAH or an adrenal tumour. Children
who develop premature pubarche are at an increased risk of developing
polycystic ovarian syndrome in later life.

Emergency

Acute Life Threatening Event (ALTE)

1. Define the common causes of ALTEs

These occur in infants and are a combination of apnoea, colour change,
alteration in muscle tone, choking or gagging, which are frightening to the
observer. They are most common in infants less than 10 weeks old and
may occur on multiple occasions. They may be the presentation of a
potential serious disorder, although no cause is often identified.

Common causes:
Infections RSV, pertussis
Seizures
Gastro-oesophageal reflux
Upper airway obstruction natural or imposed
No cause identified

Uncommon causes:
Cardiac arrhythmia
Breath-holding
Anaemia
Heavy wrapping/heat stress
Central hypoventilation syndrome
Cyanotic spells from intrapulmonary shunting

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2. Recognise and understand the immediate management of any acute
illness in a child

Management requires a detailed history and through examination to
identify problems with the baby or in care giving. The infant should be
admitted to hospital. Multi-channel overnight monitoring is usually
indicated. In most, the episode is brief with rapid recovery and the baby
is clinically well.

3. Have an understanding of the common investigations for ALTE to
establish a diagnosis

Baseline investigations and overnight monitoring of oxygen saturation,
respiration and ECG are found to be normal. The parents should be taught
resuscitation and will find it helpful to receive follow-up from a specialist
paediatric nurse and paediatrician. Detailed specialist investigation and
assessment will be required if clinical, biochemical or physiological
abnormalities are detected.

Investigations to be considered are:
Blood glucose (ASAP)
Blood gas (ASAP)
Oxygen saturation monitoring
Cardiorespiratory monitoring
EEG
Oesophageal pH monitoring
Barium swallow
FBC
U&Es, LFTs
Lactate
Urine microscopy, culture, metabolic studies and toxicology
ECG for QT conduction pathway abnormality
Chest x-ray
Lumbar puncture

Anaphylaxis

1. Understand the pathophysiology of anaphylaxis in respect of the
developing immune system

Both IgE and non-IgE activation of mast cells and basophils ignites a
cascade that results in the release and production of severe inflammatory
and vasoactive substances. These include histamine, tryptase, heparin,
prostaglandins, leukotrienes and cytokines. In anaphylaxis these
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substances most commonly involve the skin, respiratory, cardiovascular
and gastrointestinal systems. As a result there is angioedema,
bronchospasm, bronchorrhea, laryngospasm, increased vascular
permeability and decreased vascular tone and occasionally bloody
diarrhoea.

The most common cause of these mediators being released is an IgE
mediated reaction. A previously sensitised B lymphocyte produces IgE
against a specific antigen. The IgE resides on the mast cells and
basophils. When the specific antigen, or one similar to it, binds to the high
affinity receptor then degranulation occurs.

2. List the common agents that cause anaphylaxis in children and the risk
factors children may have

Foods are the most common cause of anaphylaxis in children with
peanuts being the primary cause. These triggers can cause either an IgE
mediated reaction or a non-IgE mediated reaction (generally less severe
and with a delayed onset):
Food milk, eggs, wheat, soy, fish. Shellfish, tree nuts and
legumes (peanuts)
Medicine antibiotics (penicillin, cephalosporins), local anaesthetic,
analgesics (aspirin and NSAIDs), opiates (codeine and morphine)
and radiocontrast media
Biologicals venoms, vaccines
Preservatives and additives MSG
Others latex, unknown/idiopathic

Risk factors for anaphylaxis (or a more serious attack) include being
younger (smaller airway), having asthma, chronic GI symptoms
(increases risk of vomiting), hypotension and bradycardia as well as a
person history or family history of allergies and/or anaphylaxis.

3. Describe the common presenting features of anaphylaxis

Anaphylaxis involves a range of signs and symptoms from hives with
wheezing to cardiovascular collapse and death. It can occur with or
without shock. More than 80% of patients will present with cutaneous
symptoms. Generally at least 2 organ systems are involves however
anaphylaxis can simply present with low SBP for age or a decrease of
30% in SBP after known allergen exposure.

The primary clinical diagnostic criteria include the acute onset of skin
and/or mucosal symptoms along with either respiratory compromise
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and/or reduced blood pressure or associated symptoms of end-organ
dysfunction e.g. hypotonia, syncope and incontinence.

Usually cutaneous symptoms present first and a history of exposure to a
known trigger is given. Symptoms may develop slowly and insidiously
over several hours or may rapidly progress over several minutes.
Parenteral agents generally have a faster onset of symptoms than
ingested ones.

Initial symptoms may also include itchiness and an awareness that
something isnt right. There can be a tingling mouth, runny nose, itchy
eyes and the feeling of being flushed. Some children may be too young to
show these symptoms (most anaphylaxis occurs in under 5s) but there
can be general signs of irritability.

4. Detail the immediate management of anaphylaxis including ABC and
medium term management

Airway Swelling, hoarseness, stridor
Breathing tachypnoea, wheeze, cyanosis, SpO
2
<92%
Circulation pale, clammy, hypotension, drowsy, coma

The above outline the signs that may be seen in anaphylaxis. The first
step is to call for help before putting the patient in the supine position
with the legs raised.

Adrenaline (epinephrine) 1:1000 given IM (unless IV access is available);
<6 years 150 micrograms, 6-12 years 300 micrograms and >12 years
500 micrograms to be given. Additionally an airway should be established
and maintained and high flow oxygen given. IV fluids will help in addition
to IM or slow IV hydrocortisone and chlorpheniramine. Pulse oximetry,
ECG and blood pressure all need to be monitored.

The medium-long term management of this condition should include the
provision of an Epipen for on the go IM adrenaline if needed. There should
clearly be an avoidance of the causative allergen in future. Antihistamines
can be useful if there is a milder allergy. Steroids are particularly
important in preventing a late phase reaction. Finally a person can be
desensitised to certain allergens using immunotherapy.

5. List some common investigations for anaphylaxis

Serum histamine levels rise quickly with the onset of symptoms but do
not remain elevated after 30-60 minutes. Serum tryptase levels peak at
60-90 minutes after the onset of symptoms and remain raised for up to 5
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hours. B-tryptase is released with degranulation of mast cells whereas a-
tryptase is secreted constitutively by the mast cell. The ratio of total
tryptase to b-tryptase can help distinguish systemic mastocytosis from
anaphylaxis.

Other useful tests include C1 inhibitor functional assay (C1INH) and urine
vanillylmandelic acid (VMA) and serum serotonin levels.
Radioallergosorbent test or cutaneous antigen testing can be used after
recovery to try to identify the inciting antigen.

6. Understand the role of patient help medication for immediate out of
hospital treatment for anaphylactic reactions

An Epipen (epinephrine autoinjector) should be provided to all people who
suffer from anaphylaxis. This can be administered IM when the signs and
symptoms begin to manifest and can be life saving while the patient is
transferred to hospital.

Poisoning/Ingestion/Overdose

1. Detail the epidemiology of accidental poisoning in children and
indentify those most at risk

90% of incidents happen in a childs own home where supervision is
inadequate or appropriate precautions have not been taken to prevent
access to these chemicals. Most accidental poisonings occur in young
children with a peak age of 30 months. There are around 32,000
telephone inquires about accidental poisoning in the UK each year but
fortunately there are few deaths. Those children at risk may live in a
house with poor parental input or where they are at risk of abuse or
neglect. Toddlers who can walk and do not know the dangers of ingestion
are those most at risk.

2. Detail the epidemiology of deliberate self harm through overdose or
self injury

These figures are hard to find as many children never present to services.
It is thought that up to 7% of adolescents have engaged in self harming
activity with the incidence being higher in teenage girls. For most people
this will resolve before adulthood but it can persist in up to 10%. Anxiety,
depression, heavy alcohol use, smoking and cannabis use have all been
associated with self harm. Self cutting and burning are the commonest
forms.

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3. List the common presenting features of the main ingestion/overdose
causes including paracetamol, NSAIDs, iron, methadone, alcohol and
detergents

Paracetamol large ingestion is uncommon in young children as tablets
are difficult to swallow and elixir is too sweet. Adverse affects include
gastric irritation and liver failure after 3-5 days. Management is to check
the plasma concentration after 4 hours ingestion. If >150mg/kg has been
taken, or is plasma concentration is high, then start IV acetylcysteine.
Monitor prothrombin time, liver function and plasma creatinine.

NSAIDs again depends on the amount ingested. Symptoms may be
mild nausea, vomiting and electrolyte abnormalities. Large ingestion can
lead to an altered level of consciousness, tachypnoea and even coma.
There may be multiple organ failure and seizures. Tinnitus and nystagmus
occur along with abdominal pain. Initially assess ABC and stabilise the
patient. Next GI decontamination should begin with activated charcoal.
Orogastric lavage may also be needed.

Iron initially there is vomiting, diarrhoea, haematemesis, melaena,
acute GI ulceration. There is then a latent period of improvement. Hours
later there is drowsiness, coma, shock, liver failure, hypoglycaemia and
convulsions. Long term this can lead to gastric strictures. If serious
toxicity (>60mg/kg elemental iron) then perform abdominal x-ray to
count the number of tablets. Perform serum iron levels and consider
gastric lavage (especially if severe and <1 hour ingestion time).
Intravenous desferrioxamine for chelation may be used.

Methadone symptoms include pinpoint pupils, constipation, nausea,
vomiting and spasms. There will be a low blood pressure, weak pulse and
shallow slow breathing. Eventually this will lead to coma, drowsiness and
peripheral shut down. If the patient lacks spontaneous respiration then
intubate and give IV naloxone (antidote) to relieve some respiratory
depression.

Alcohol cause hypoglycaemia, coma and respiratory failure.
Management is to monitor blood glucose, check blood alcohol levels for
severity and give IV dextrose if needed.

Detergents these agents are generally very caustic and present with
dyspnoea, dysphagia, oral pain, cheek pain, abdominal pain, nausea and
vomiting. Do not induce emesis or try to neutralise the agent. Dilutant
may be used in some cases. The main treatment should be airway
support and gastric emptying and decontamination (via NG tube).

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4. Outline the immediate management of the common poisoning agents

See above for specific information

General management of poisoning is as follows:
Identification of poison
Assessment of agents toxicity
Is removal of poison indicated (little evidence of this being effective
over 1 hour)? The options available are as follows:
- Activated charcoal is the most effective available method and
absorbs many drugs. It is ineffective for iron, hydrocarbons and
insecticides. It is black, unpalatable and gritty.
- Gastric lavage is rarely used in children and only consider for large
quantities. A cuffed tracheal tube must be used if the patient is
drowsy
- Induced vomiting with ipecac is rare used as it is ineffective.
Are investigations indicated blood glucose for alcohol ingestion,
blood levels of drug, toxicology screen
Plan clinical management determined by toxicity and if low then
home, medium is observation then discharge and high is hospital
admission.
Assess social circumstances required to prevent future incidents

5. Be aware of the resources available when dealing with children who
have ingested/overdosed on a substance

A&E
CAMS (child and adolescent mental health services)

6. Recognise the importance of the social family factors in these children

A lot of overdoses at home occur due to poor supervision (although not
always) which increases the risk of these incidences. There should also be
consideration of abuse and even the purposeful administration of these
poisons. With the purposeful overdoses there may be a poorly cohesive
family unit at home with little parental support. These factors are vital to
protect against further incidents and need consideration.

7. Outline the associated risk factors for adolescents who overdose or
self-harm

Epidemiological risk factors:
Men are more likely to complete suicide but women engage in more
parasuicidal activity
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Rates highest in men 19-34 years old
Divorced>widowed>single
Social class V
Living alone

Clinical risk factors:
Psychiatric illness
Previous deliberate self harm
Alcohol dependence
Physical illness especially terminal illness and debilitating or
chronically painful conditions
Family history of depression, alcohol dependence or suicide
Recent adverse life-events (especially bereavement)

8. Be aware of the safeguarding issues in these children

As mentioned above this event may have been due to neglect or may
have been purposeful. These children need reviewing and potential safe
guarding put in place.

Sudden Infant Death Syndrome

1. Describe the epidemiology of SIDS including risk factors

This is defined as the sudden and unexpected death of an infant or young
child for which no adequate cause is found after a thorough post-mortem
examination. There is a marked variation in the incidence of SIDS in
different countries, suggesting that environmental factors are important.
SIDS occurs most commonly at 2-4 months of age. The risk for
subsequent children is slightly increased. In the UK the incidence of SIDS
has dramatically fallen over the last 20 years, coinciding with the national
Back to sleep campaign which is detailed in objective 2. The incidence in
the US in 2005 was 1 in 2000 births.

Risk factors include:
The infant aged 1-6 months with a peak at 12 weeks, low birth
weight and preterm, sex (male 60%) and multiple births, GI
reflux
The parents low income, poor or overcrowded housing, maternal
age with <20 carrying three times the risk, single unsupported
mother, high maternal parity, maternal smoking during pregnancy
(>20 a day increases risk by 5 fold), and smoking after childs birth.
The environment lying prone (face down), overheating

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2. Give advice to parents about avoidance of SIDS and some of the
evidence behind this

Infants should be put to sleep on their back (not their front or side)
Overheating by heavy wrapping and high room temperature should
be avoided
Infants should be placed in the feet to foot position (feet at the foot
of the bed so they dont slip under the covers)
Do not smoke during pregnancy or in the same room as the infant

3. Outline the common investigations and procedures that occur following
the unexplained death of a child

The following steps occur after a sudden infant death:
Resuscitation if appropriate
Care of parents history obtained
Baby pronounced dead detailed clinical examination, remove
endotracheal tube, intraosseous needles but retain venous lines.
Remove clothes and bedding to give to police. Investigations should
include a nasopharyngeal aspirate for virology and bacteriology,
blood toxicology, metabolic screen, blood culture, urine for
biochemistry and toxicology. And lumbar puncture.
Breaking the news to the parents explain the police and coroner
will be involved and a post-mortem is required. The option for organ
donation is given and parents should be informed they are not
being blamed (despite involvement of the police as it is protocol).
Parents offered to see and hold their baby this may occur
immediately or within a few days (based on parents wishes) and a
minister may be asked to attend by the parents
Initial strategy discussion social services asked to identify any
concerns
Home visit within 24 hours police attend to get a detailed report
Postmortem
Case discussion
Follow up and bereavement counselling

Burns/Scalds

1. Describe the epidemiology, risk factors and presenting features of
burns/scalds

It is estimated than half a million children are admitted to hospital with
burns each year, across the world. The majority of these occur in low to
middle income countries. Low economic status and low education levels of
the mother are the main demographic factors associated with a high risk
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of burn injury. Other associated factors are a high population density,
household crowding and psychological stress in the family. Single parents
and younger mothers are more at risk, especially if they are unemployed.

Worldwide the under 5s account for half of all burns, the majority of
which occur at home and are scolds. Scolds are more common in toddlers
particularly as they scold at a lower temperature due to thinner skin.

The parents usually bring the child with a clear history of a burn or scold.
In addition to the clear area of damage there may be blisters, pain,
peeling skin, shock, airway obstruction, wheezing and swelling.

2. Outline the first aid of burns/scalds out of hospital

Initially the area should be run under cold water (not icy) for at least 5
minutes. A cold water compress may also be helpful from the perspective
of pain. The person should be calmed and reassured and then the area
wrapped in cling film or a sterile bandage. The burn should be protected
from friction and pressure. Ibuprofen and paracetamol can be given to
reduce the swelling and pain. Do not apply any creams or medicines to
the burn.

3. Describe the immediate assessment and management of burns/scalds
in the emergency department

Firstly the severity of the injury must be assessed:
Is the airway, breathing and circulation stable?
Was there any smoke inhalation? If this has occurred there is a
danger of subsequent respiratory complications and carbon
monoxide poisoning. All affected children should be observed and
managed in hospital with a low threshold to protect the airway
before secondary problems develop.
Depth of burn in superficial burns the skin will be epithelialised
from surviving cells. In partial thickness burns there is some
damage to the dermis, with blistering and the skin is pink or
mottled. Regeneration for superficial and partial thickness burns is
from the margins of the wound and from the residual epithelial
layer surrounding the hair follicles deep within the dermis. In deep
(full thickness) burns the skin is destroyed down to and including
the dermis and looks white or charred, is painless and involves hair
follicles, hence skin grafting is often required. Deep burns need
assessment and treatment in hospital
Surface area of the burn is important and can be calculated from a
surface area chart. Burns more than 5% full thickness and 10%
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partial thickness need assessment by burns specialists. Involvement
of greater than 70% of the body carries a poor prognosis.
Special sites include the mouth and face which can cause
disfigurement and also compromise the airway.

Treatment should be directed at:
Relief of pain using a pain score and may require strong analgesia
such as IV morphine
Treating shock with IV fluids, preferable plasma expanders and
close monitoring of haematocrit and urinary output. Children with
more than 10% burns will require IV fluids.
Providing wound care and covering the burns with plastic wrapping
to protect against the air and infection. Blisters should be left alone
and irrigation with cold water should be used briefly to superficial or
partial thickness burns covering less than 10% of the body as it
may cause excessive cooling otherwise. Tetanus immunisation
status must be ascertained and a booster given if required. Ongoing
care involves removal of dead tissue and replacement of sterile
dressings.

If burns occur in specialist sites then a plastic surgeon may be needed for
reconstruction. Psychological support may also be needed for the
psychological sequelae of severe burns.

4. Be aware of the principles of burn/scald treatment

See above

5. Recognise the importance of safeguarding in this area

Not all burns are an accident and many will need investigating,
particularly if severe or recurrent. Burns may also occur as an accident
but in part due to neglect which is also a safe guarding issue. The site,
depth and type of burn are all indications of accidental or deliberate
injury. For example a cigarette burn may be accidental if very shallow but
if deep then it implies a deliberate burn.

6. Be aware of preventative measures to reduce the prevalence of these
injuries in children

Install smoke alarms in the house
Teach a child about fire safety and the hazards of matches and
fireworks
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Keep children from being able to climb near stoves or from reaching
and pulling pans, irons and oven doors
Turn pot handles towards the back of the stove
Place fire extinguishers in key locations
Remove electrical cords from the floor and keep them out of reach
Use plug covers to prevent against electrical burns
Other common sense step

7. Recognise the importance of airway compromise with facial burns or
smoke inhalation

An airway burn has a significant impact on the survival of the patient.
This leads to upper airway swelling, acute respiratory failure and carbon
monoxide intoxication (if due to smoke). Oedema typically occurs 12-24
hours after injury and hence early intubation is recommended rather than
observation. Oxygen at a high flow should be given. If respiratory effort
fails due to damage then mechanical ventilation should be started in the
aim to blow off any excess CO.

8. Appreciate the different between electrical burns

Like before these primarily occur in the household and can vary from
minor to multi organ involvement. Electrical injuries should be assessed
according to the power source and the type of current. Most are low
tension injuries (<110 volts) and occur on the hands or mouth.
Electrocution generates heat and follows the path of least resistance. This
can cause characteristic burns in children as well as muscle damage and
cardiac anomalies. Injuries also often result from being thrown from the
electrical source if it is AC. There may be tetanic contraction of muscles
which results in muscle damage or tearing.

Trauma/Injury

1. Describe the epidemiology of trauma/injury in children

Trauma and injury is a broad topic and can include many things such as
RTAs, head injuries, bike accidents and internal injuries. Injury is the
leading cause of death in children older than 1 year and accounts for
65%. Road accidents make up the largest proportion of these, followed by
homicide and drowning. Male children who are in their adolescence are
most at risk. Blunt force is much more common than penetrative injuries.

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2. Recognise the sick child as a result of injury/trauma and the immediate
first steps of treatment

Assessment

Airway and breathing assess for airway obstruction, work of
breathing/effort, respiratory rate, stridor, wheeze, auscultation for air
entry, cyanosis

Circulation heart rate, pulse volume, capillary refill time, blood pressure

Disability consciousness, posture (hypotonia, decorticate, decerebrate),
pupil size and reactivity

Management

Airway and cervical spine assume damaged and that neck
movements may cause further damage. Only use jaw thrusts and
chin lifts to open the airway and no neck extension. Secure the neck
with a rigid cervical collar and sandbags. Discontinue immobilisation
only after cervical spine x-rays and neurological examination are
found to be normal
Breathing give high flow oxygen via face mask and if inadequate
then start ventilation. If there is asymmetry of percussion note or
breath sounds then consider pneumothorax/haemothorax or a
misplaced endotracheal tube
Circulation and haemorrhage bleeding from a superficial wound?
If there is shock then is there internal bleeding. Consider an x-ray
of the chest and pelvis. Apply pressure to stop the bleeding if
visible. Insert two large venous cannulae and take FBC, group and
cross-match. Give crystalloid 20ml/kg and reassess. Seek surgical
opinion as likely to be ruptured liver, spleen or fractured pelvis or
long bone.
Disability assess consciousness and secure airway, provide
respiratory support if GCS<8 or at P on AVPU (alert, voice, pain,
unresponsive) scale. Assess pupil size and reactivity and if abnormal
or unequal then assume serious head injury
Exposure examine all parts of the body, consider analgesia and
also consider gastric tubing. Remove all clothing but avoid
hypothermia and embarrassment.

Near Drowning

1. Be aware of drowning as a cause of death/morbidity in children and the
basic epidemiology
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Worldwide around 450,000 children drown each year and this is the
leading cause of accidental death under 15 years of age. Drowning is
three times more common in boys than girls and is generally more
common in warmer countries, mostly due to domestic swimming pools.
Babies are at risk of drowning in the bath, toddlers may wander into
ponder or swimming pools and older children may get into trouble in
swimming pools, rivers, canals, lakes and in the sea.

Up to 30% of fatalities can be prevented by skilled on site resuscitation.
Even children who are unconscious with fixed dilated pupils can survive
near drowning episodes, particularly if the water is cold due to the
protective effect of hypothermia against hypoxic brain injury. Therefore
these children need full resuscitation until they have warmed up to nearly
normal. Immediate management at the waterside is CPR with rescue
breaths. Heat loss should be prevented by covering and warming.
Children who have inhaled water need admitting to assess for respiratory
distress from pulmonary oedema, 1-72 hours after due to secondary
surfactant deficiency. Some aspirate water and develop pneumonia with
secondary infection. There appears to be no difference in survival
between salt and fresh water drowning.

Infection/Immunology

Meningococcaemia

1. Outline the incidence and demographics

Firstly it is worth noting that two thirds of meningitis cases are viral. Over
80% of patients with bacterial meningitis in the UK are younger than 16
years. Only meningitis is present in 30-50% of cases of invasive
meningococcal disease whereas 7-10% of cases only have features of
septicaemia and 40% have both, 10% of patients being left with long
term neurological impairment. Bacterial meningitis more commonly
occurs in black and Hispanic children but may be due to socioeconomic
factors. This occurs more commonly in males and peak incidence is 6-24
months, with most cases being under 4 years. Children under 6 months
are generally protected by maternal antibodies. The incidence of
meningococcaemia is 0.7-1.4 per 100,000

As many as 30% of teenagers and 10% of adults carry meningococci in
their respiratory tract at any given time.

The clinical different between septicaemia and meningitis is importance
because patients who present with shock are treated differently than
patients who present primarily with increased ICP.
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2. Understand the pathophysiology of Neisseria meningitides and the
serotypes that cause disease (reference to immunisation schedule)

N.meningitides is the organism that causes meningococcaemia. There are
around 13 serotypes identified but the most significant of these are A, B
and C. Serotype A and C predominate in Asia and Africa and serotypes B
and C predominate in Europe, North America and South America. In the
UK most deaths used to be due to type C.

Humans are the only known reservoir for N.meningitides and can transmit
organisms by aerosol or nasopharyngeal secretions. Meningococcal
infection is preceded by nasopharyngeal colonisation. Meningococci then
enter the blood stream and spread to specific sites such as the meninges,
joints or disseminate throughout the body. 5% of individuals become
asymptomatic carriers. An increased risk of infection can be due to
attending pubs/clubs, kissing and smoking (hence higher in university
halls of residence).

Meningococci have 3 importance virulence factors which are the
polysaccharide capsule, their lipo-oligosaccharide endotoxin (mediates
invasion and is the protein that our body responds to) and
immunoglobulin A1 protease which cleaves membranes and helps the
organism survive intracellularly.

Meningitis C vaccine is given at 3 months, 4 months and at 1 year.
Meningococcal group B vaccine is currently being developed.

Much of the damaged caused by meningitis is as a result of the host
response rather than the organism itself. The release of inflammatory
mediators and activated leucocytes together with endothelial damage,
leads to cerebral oedema, raised ICP and decreased cerebral blood flow.

Other causative organisms include:
Neonate to 3 months Group B strep, E.coli, Listeria
1 month 6 years N.meningitidis, Strep pneumoniae,
H.influenzae
>6 years N.meningitidis, Strep pneumoniae

3. know how this disease presents clinically reference to NICE guidelines
on febrile children (description of purpura and relevant differential
diagnoses)

The younger the child the less likely he or she is to exhibit the classic
symptoms of fever, headache and meningeal signs. Meningitis in the
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neonatal period is associated with maternal infection or pyrexia on
delivery. A child younger than 3 months may have very non-specific
symptoms including hyperthermia/hypothermia, change in sleeping or
eating habits, irritability or lethargy, vomiting, high pitched cry or
seizures. Meningismus and a bulging fontanel may be observed. A child
who is quiet at rest but who cries when moved or comforted may have
meningitis.

After three months of age the child may display symptoms more often
associated with bacterial meningitis with fever, vomiting, irritability,
lethargy or any change in behaviour. After 2-3 years the child may
complain of headache, stiff neck and photophobia. The clinical course may
be brief and fulminant or gradual with several days of URTI followed by
more severe symptoms.

A petechial rash (if N.meningitidis) is common and develops in 50-80% of
patients and involves the axillae, flanks, wrists and ankles. They are
usually located in the centre of lighter coloured macules. These are non-
blanching and a sign of vasculitis. Opisthotonus is arching of the back
with increased ICP and there may also be positive Brudzinski (flexion of
the neck with the child supine causing flexion of the knees and
hips)/Kernig (with the child lying supine and with the hips and knees
flexed there is back pain on extension of the knee) signs.

The classic signs are:
Headache
Fever
Vomiting
Photophobia
Lethargy
Neck stiffness
Rash in over 50%
Seizures in 20%
Early non-specific symptoms

Septicaemia

This syndrome results from the activation and continued stimulation of
the immune system by proinflammatory cytokines, caused by endotoxin.
The clinical spectrum is produced by 4 elements: capillary leak,
coagulopathy, metabolic derangement and myocardial failure.

Capillary leak from presentation until day 2-4 the vascular permeability
massively increases causing protein to enter the intravascular space and
urine causing severe hypovolaemia. There is initial vasoconstriction to
compensate but eventually there is decreased venous return and
decreased cardiac output.
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Coagulopathy there is a severe bleed tendency in meningococcaemia
and presents with severe thrombosis in the microvasculature of the skin,
often in a glove and stocking distribution, sometimes requiring
amputation.

Metabolic derangement profound acidosis occurs with severe metabolic
abnormalities including hypokalaemia, hypocalcaemia, hypomagnesaemia
and hypophosphataemia.

Myocardial failure function remains impaired even after the circulating
volume is restored and metabolic abnormalities corrected. A gallop
rhythm is often audible with elevated CVP and hepatomegaly. This is
thought to result from direct damage with proinflammatory mediators,
acidosis and hypoxia.

Typical presentation includes:
Fever
Rash (may initially be erythematous and may change to petechiae
and purpura)
Vomiting
Headache
Myalgia
Abdominal pain
Tachycardia/tachypnoea
Hypotension
Cool extremities
Initially normal consciousness level

NICE defines purpura as >2mm in diameter but does not give an exact
definition.

Differentials include sepsis, febrile seizures, measles, mumps, HSP, ITP or
Reyes syndrome

4. Understand and outline the acute management of fulminant
meningococcal sepsis and meningitis

Investigations

FBC
Blood glucose and blood gas
Coagulation screen
U&Es, LFTs
Blood cultures, urine culture, stool culture, throat swab
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Rapid antigen testing for meningitis organisms
Lumbar puncture
Chest x-ray if suspected TB
Consider CT/MRI and EEG

Management

With meningitis it is imperative that there is no delay in administering
antibiotics and supportive therapy. The choice of antibiotics will depend
on the likely pathogen but a third generation cephalosporin (e.g.
ceftriaxone or cefotaxime) is preferred as it covers most common
bacteria. Beyond the neonatal period dexamethasone administered with
the antibiotics reduces the risk of long-term complications such as
deafness.

With meningococcal septicaemia the child needs rapid stabilisation and
may require intensive care. Initially broad spectrum antibiotics should be
given. Significant hypovolaemia is often present owing to fluid
maldistribution which occurs due to the release of vasoactive mediators
by host inflammatory and endothelial cells. There is a loss of intravascular
proteins and fluids and circulating plasma volume is lost in the interstitial
fluid. CVP and urinary catheterisation should be done to assess fluid
balance. Capillary leak into the lungs may cause pulmonary oedema
leadings to respiratory failure and the need for mechanical ventilation.
Myocardial dysfunction occurs due to inflammatory cytokines and
circulating toxins depressing the myocardial contractility, hence inotropic
support may be needed. DIC may occur due to widespread microvascular
thrombosis and consumption of clotting factors. This needs correcting
with FFP and platelets.

Prophylaxis

Treatment with rifampicin to eradicate nasopharyngeal carriage is
recommended in all household contacts. It is not required for the patient
if they receive a third generation cephalosporin. Household contacts of
patients with meningococcal meningitis type C should be immunised
against group C.

5. Demonstrate awareness that this is a notifiable disease (and what this
means)

This is a notifiable disease meaning that the local public health
department need telling about it. Patients cannot refuse this.

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6. Understand that any child who is acutely septic with or without a
purpuric rash may have meningococcaemia (presentation with
maculopapular rash occurs in early disease)

True. Sepsis is mostly commonly caused by meningococcus in children so
should be suspected even if there is no rash.

7. Describe potential sequelae and the complications of
meningococcaemia

Despite early aggressive management the complications remain
significant. In the neonatal period the mortality is 15-25% and this drops
to 5% after this age. Focal neurological sequelae may occur in 10-15% of
patients with meningitis and these problems are included below.

Sequelae and complications can be divided into nervous system and
others.

Others
DIC
Thrombocytopenia
Septic arthritis
Pericarditis
Bacterial endocarditis
Gangrene

Nervous System
Visual field defects
Facial palsy
Hemiparesis
Hearing loss
Local vasculitis may cause cranial nerve palsies or other focal
lesions
Local cerebral infarction may result in focal or multifocal seizures
which may subsequently lead to epilepsy
Subdural effusion particularly associated with H.influenzae and
pneumococcal meningitis
Hydrocephalus results from impaired CSF reabsorption or
blockage of the ventricular outlets by fibrin. A ventricular shunt may
be required
Cerebral abscess the childs clinical condition deteriorates with the
emergence of signs of a space occupying lesion. The temperature
will fluctuate and this can be confirmed on CT.

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8. Awareness of the rare underlying immunological deficits that may lead
to recurrent meningococcaemia (complement deficiency)

The prevalence is thought to be relatively rare for complement deficiency
but up to 30% of people with recurrent meningococcaemia have it.

Septicaemia

1. Be able to define sepsis

Sepsis refers to a bacterial infection in the blood stream or body tissues.
This is a very broad term covering the presence of many types of
microscopic disease causing organisms.

2. List the relevant causative organisms at various ages e.g. neonate,
infant, toddler, pre-school/school child

In patients with early onset neonatal sepsis (<48 hours after birth) there
is an ascending infection from the birth canal and into the amniotic fluid.
These infants have pneumonia and septicaemia. Causative organisms
include group B streptococcus, E.coli, H.influenzae and listeria
monoctogenes

In patients with late-onset neonatal sepsis the source of infection is often
the environment. Causative organisms include Staph.epidermidis,
Staph.aureus, E.col, Kelbsiella, Psudonmonas, Enterobacter, Serratia and
Candida

In infants worldwide the most common causes of bacterial sepsis are
H.influenzae type B, Strep.pneumoniae, N.meningitids and salmonella.

In childhood the pathogens are similar to infancy although the presence
of encapsulated organisms generally becomes less common.

3. Outline the main causative organisms in at-risk groups e.g.
immunocompromised, chronic respiratory illness

Immunodeficiency predisposes to SIRS from various usual and unusual
pathogens but particularly pneumococcus.

Patients with chronic respiratory illness are particularly at risk from
pseudomonas.

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4. Know how sepsis presents clinically in these age groups reference to
knowledge of target physiology parameters for each age group (BP, pulse,
RR); reference to NICE guidelines on febrile child traffic light assessment
i.e. what are red-flag signs/symptoms

Normal Parameters

Respiratory rate
Age Normal Tachypnoea
Neonate 30-50 >60
Infants 20-30 >50
Young Children 20-30 >40
Older Children 15-20 >30

Heart rate
Age Beats/min
<1 Year 110-160
2-5 Years 95-140
5-12 Years 80-120
>12 Years 60-100

Blood pressure
Age Upper limit of SBP
1-5 Years 110 mmHg
6-10 Years 120 mmHg

Fever is the most common presenting symptoms of children with SIRS
and a parental report can usually be assumed to be reliable. Signs that
may be noticed initially include minimal tachycardia widened pulse
pressure, minimal tachypnoea and minimally delayed capillary refill. Later
there will be hypotension, mental state changes, anuria, hypothermia,
cool extremities and potentially a petechial or purpuric rash.
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5. Understand pathophysiology of shock and how to recognise clinically
the degree of shock

Shock is defined physiologically as inadequate delivery of substrates and
oxygen to meet the metabolic needs of the tissues. As cells are starved of
oxygen and substrate they can no longer sustain efficient aerobic oxygen
production. As oxygen delivery is impaired the cells must switch to the
much less efficient anaerobic metabolic pathway which generates only 2
ATP per glucose rather than 36, with the resulting accumulation of lactic
acid. Eventually cellular metabolism is no longer able to generate enough
energy to power components of cellular homeostasis leading to disruption
of the cell membrane ionic pumps, accumulation of intracellular sodium
and efflux of potassium. The cells swell, membranes break down and cell
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death ensures. Widespread cell death results in multiple system organ
failure and even death.

The clinical features of shock are manifestations of compensatory
physiological mechanisms to maintain the circulation and the direct
effects of poor perfusion of tissues and organs. In early compensated
shock the blood pressure is maintained by increased HR and RR
redistribution of blood from venous reserve volume and diversion of blood
flow from non-essential tissues such as the skin in the peripheries, which
becomes cold, to the vital organs like the brain and heart. In shock due to
dehydration there is usually >10% loss of body weight and a profound
metabolic acidosis which is compounded by failure to feed and drink while
severely ill. Low BP is a late stage and indicates compensatory responses
are failing. In late or uncompensated shock the BP falls and lactic acid
increases.

Early (compensated) Late (decompensated)
Tachypnoea Acidotic breathing (Kussmaul)
Tachycardia Bradycardia
Decreased skin turgor Confusion/depressed consciousness
Sunken eyes and fontanelle Blue peripheries
Delayed capillary refill >2
seconds
Absent urine output
Mottled, pale, cold skin Hypotension
Core-peripheral temperature
gap >4
o
C

Decreased urinary output

6. Understand and demonstrate which antibiotics would be most
appropriate empiric choice based on age and presentation of the child
with septicaemia

Newborns and infants in the first 6-8 weeks of life should generally
receive ampicillin and gentamicin, ampicillin and cefotaxime or ampicillin
and ceftriaxone unless a clear etiology is known. In older infants and
children generally a third generation cephalosporin is given alone.
Patients with indwelling lines are given vancomycin is MRSA is suspected.

7. Demonstrate awareness of escalation of treatment of septicaemia and
shock and the role of appropriate airway management, inotropic support
and intensive care management

Page | 346

The management of septicaemia has previously been discussed and
largely revolves around the provision of adequate antibiotic cover in
addition to managing any complication of metabolic derangement,
cardiomyopathy, capillary leak and clotting.

Septicaemia generally leads to shock so the treatment is along the same
management plan. Initially, after basic life support and antibiotic therapy,
oxygen should be delivered at 10-15 L/min by facial mask. Any patient
with cool extremities, prolonged capillary refill time and a tachycardia
should be considered to have shock. The initial therapy for shock is
volume replacement at a rate of 20 ml/kg. In the UK the use of 4.5%
albumin solution is generally recommended. A satisfactory response to
volume replacement is a drop in heart rate and improved peripheral
perfusion. The first bolus of fluid may be repeated to achieve this
response. The patient's condition may stabilise with only volume
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replacement, but the patient requires close monitoring and reassessment
to detect further signs of shock or pulmonary oedema (due to capillary
leak). The goal of circulatory support is to maintain tissue perfusion and
oxygenation.

Patients who do not response to initial volume replacement require
further volume replacement and may need ionotropic support, such as the
use of dopamine which may be administered via a peripheral vein until
central venous access is established. Patients with persistent hypotension
may need an adrenaline infusion administered centrally. Endotracheal
intubation and ventilation are recommended in patients who still have
signs of shock after they have received volume replacement of more than
40ml/kg. Even patients who are awake and alert have a high risk of
pulmonary oedema. The mechanical ventilation helps to relieve metabolic
work for the patient and may facilitate the removal of carbon dioxide.

Biochemical correction of acidosis, hypoglycaemia, hypokalaemia,
hypocalcaemia and hypomagnesaemia is required. Correct coagulopathy
and anaemia with the use of fresh frozen plasma and blood as
appropriate.

8. Know how to record information in patient notes to enable a relevant
and structured handover when needed i.e. To ICU staff

Id hope so by this stage

Allergy/Food Allergy

1. Understand the pathophysiology of allergic reactions

Many genes have been linked to the development of allergic disease.
Polymorphisms or mutations in these genes lead to susceptibility to
allergy. Allergic diseases occur when individuals make an abnormal
immune response to harmless environmental stimuli, usually proteins.
The developing immune system must be sensitised to an allergen before
an allergic immune response develops. However sensitisation can be
occult e.g. sensitisation to egg from exposure to trace quantities in
maternal breast milk. Only a few stimuli account for allergic disease,
which are inhalant allergens, ingestant allergens and insect stings/bits,
drugs and latex. Proteins with an unstable tertiary structure may be
rendered non-allergenic by heat degradation.

The allergic immune response is classified as an IgE mediated or non-IgE
mediated reaction. IgE mediated reactions have a clinical course:
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Early phase within minutes of exposure, caused by histamine
release and other mediators from mast cells. Causes urticaria,
angioedema, sneezing and bronchospasm.
Late phase 4-6 hours later with nasal congestion in the upper
airway and cough and bronchospasm in the lower airway.
The majority of life threatening events are IgE mediated as non-IgE
mediated reactions have a delayed onset of symptoms and a more
variable clinical course.

The pathophysiology is as follows:
This is a type 1 hypersensitivity reaction
Involves IgE and mast cells. The IgE is derived from B-cells that are
activated by exposed T
H
2 cells via the release of IL4. The initial
exposure leads to the recruitment of eosinophils.
The IgE molecules bound to the Fc receptors on mast cells are
cross-linked by specific antigens
This cross-linking leads to the release of preformed inflammatory
mediators and the production and subsequent release of arachidonic
acid derived inflammatory mediators
The mediators have the effect of inducing inflammation and leads to
marked vasodilation, smooth muscle contraction, increased small
vessel permeability and increased secretion of mucus

2. List the common allergens and their presenting features in children

Food intolerance has previously been discussed.

Eczema this can be atopic or non-atopic. Atopic eczema is classified as
an allergic disease and many affected children will have a family history of
allergy, at least 50% develop other allergic diseases and IgE antibodies to
common allergens are present. There is a close relationship between
eczema and food allergy, particularly in young infants with severe
disease; up to 40% of them have an IgE mediated food allergy, in
particular egg allergy. The core symptom is puritus with rash and
excoriations. These areas are dry and may show lichenification.

Allergic rhinitis and conjunctivitis This can again be atopic or non-atopic.
It can be classified as intermittent or persistent and mild or severe. It
affects up to 20% of children and can severely disrupt their lives. It is
associated with eczema, sinusitis and adenoidal hypertrophy and is
closely associated with asthma.

Asthma affected children often have IgE antibodies to aeroallergens.
Allergen avoidance is difficult to achieve.

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Urticaria and angioedema usually in response to an allergen or viral
infection. It involves deeper skin tissue to produce swelling of the lips and
soft tissue around the eyes and even anaphylaxis. Chronic urticaria >6
weeks is usually not allergic. It results from a local increase in the
permeability of capillaries and venules. These changes are dependent on
activation of skin mast cells.

Drug allergy only a minority who are labelled as allergic actually are.

Insect sting hypersensitivity this arises from bee or wasp stings but also
from ant bites in the USA, Asia and Australia. This allergy can be mild
(local swelling), moderate (generalised urticarial) or severe (systemic
symptoms with wheeze or shock). Children with a previous mild reaction
are unlikely to develop a severe reaction.

3. Outline initial investigations and management of common allergies

Investigations are usually a detailed clinical history in addition to blood
tests to check for markers of hypersensitivity. Other simpler tests such as
introducing the stimulus into the patient in controlled conditions may
work. Patch testing can be done for cutaneous allergies.

Management depends on the allergy but is generally the use of
antihistamines if needed along with steroids. An epipen must be provided
if severe anaphylaxis occurs in patients. There is also the option for
systemic desensitisation for a few common allergies.

Drug Reaction

1. Recognise the importance of drug reactions and the common ones seen
in children

Antibiotics penicillin and cephalosporins
Local anaesthetic (lidocaine)
Analgesics (aspirin, NSAIDSs ibuprofen)
Opiates codeine, morphine
Dextran
Radiocontrast media

2. Understand how to report severe reactions

There is a form called the yellow card that should be submitted with the
details of the incident to the medicines and healthcare products
regulatory agency.
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3. Outline the immediate treatment of drug reactions and be aware of
resources available to assist management

Stop using the drug that is thought to be the cause
Start a new drug if the existing condition needs urgent treatment
Consider altering the dose or temporarily stopping the drug
treatment
Consider the effects of drug-drug interactions
Consider the possibility of withdrawal effects if withdrawn too fast
Provide treatment for the allergy include ABC and medication as
necessary

HIV

1. Outline the epidemiology both in the worldwide setting and the UK

Globally HIV affects over 2.5 million children, mostly in sub-Saharan
Africa (2.3 million) and there are still 380,000 children becoming infected
each year. The major route is mother to child transmission which occurs
during pregnancy, at delivery or through breast feeding. The virus can
also be transmitted to children by infected blood products, contaminated
needles or through child sex abuse, but this is uncommon. In comparison
there are only 1400 children living with HIV across all of Western Europe.

2. Outline the short and long term risks

Short and long term
Opportunistic infections TB, PCP, Toxoplasmosis, MAC, VZV, HSV,
CMV, Candida
Blood problems thrombocytopenia, anaemia, neutropenia
Diet high energy, high protein

Long Term
Compliance
Failure to thrive
Risk of transmission
HIV encephalopathy
Neuropathy and myelopathy
Cancers Kaposis sarcoma, Non-Hodgkins lymphoma

3. Understand the prevention and treatment options

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Prevention is outlined in the neonatal section and involves reducing the
mothers viral load along with caesarean section and no breast feeding.
This reduces the risk to 2%.

Treatment of HIV revolves around the decision to start antiretroviral
therapy (ART) which is based on a combination of clinical status, HIV viral
load and CD4 count, except in infants who should start ART shortly after
diagnosis, because they have a higher risk of disease progression. As in
adults a combination of three or four drugs are used. Prophylaxis against
PCP with co-trimoxazole is prescribed for infants who are HIV infected and
for older children with low CD4 counts. Other aspects of management
include:
Immunisation which is important because of the higher risk of
infections, and should follow the routine vaccination schedule, with
the exception of BCG which should not be given as it is live and can
cause disseminated disease. In addition to these a vaccine against
influenza, hepatitis A, B, and VZV should be considered
Multidisciplinary management of children in a family clinic with
other infected members should be done
Regular follow up with particular attention paid to weight,
neurodevelopment and clinical signs of disease.

Infectious Mononucleosis

1. List the clinical features

Acute infectious mononucleosis presents with a history of 1-2 weeks of
fatigue and malaise, however onset may be abrupt. The incubation period
in adolescents is 30-50 days but is shorter in younger children. Symptoms
include a sore throat, headache, fever, myalgias, nausea and abdominal
pain. Sore throat is the most frequent presenting symptoms, gradually
worsening over the first week. It may be the most severe sore throat the
patient has experienced. Headaches usually occur during the first week
and may be retro-orbital. LUQ pain may be due to splenic enlargement
and severe abdominal pain may indicate splenic rupture. Symptoms
usually persist for 2-3 weeks but fatigue is often prolonged. Infants and
young children with primary infection are usually asymptomatic.

Physically EPV is characterised by pharyngitis, generalised
lymphadenopathy and hepatosplenomegaly. Children younger than 4
years frequently have splenomegaly or hepatomegaly, rash and
symptoms of an URTI. More than 90% of patients develop fever which is
more severe in the afternoon, typically peaking at 38-39
o
C but may reach
40
o
C. Fever resolves over 10-14 days. Pulse is normal and tachycardia is
unusual.

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2. Be aware of the complications and treatment

Infectious mononucleosis is a self-limiting illness that does not usually
require specific therapy. Because of low transmissibility of EBV isolation is
not indicated. Inpatient therapy for medical and surgical complications
however may be required. Surgically the main problem is splenic rupture
so the spleen may need removing. With the fatigue patients should avoid
contact sport or heavy lifting for at least 2-3 weeks to avoid splenic
rupture.

Complications include:
Hepatitis 90%
Jaundice 5%
Mild thrombocytopenia 50%
Haemolytic anaemia 0.5-3%
Upper airway obstruction due to tonsil hypertrophy 0.1-1%
Splenic rupture 0.1-0.2%
Neurological complications 1%
Many neurological conditions including coma, meningitis,
encephalitis, cranial nerve palsies etc
Myocarditis and pericarditis
Reye syndrome
Chronic fatigue syndrome

Kawasaki Disease

1. List the diagnostic criteria

NICE guidelines say a child has Kawasaki disease if they have a fever of
38
o
C or above for more than five days along with at least 4 of the
following key symptoms:
Conjunctival injection in both eyes
Change to the mouth or throat such as dry cracked lips or a red
swollen tongue
Changes to the skin on the arms or legs such as swelling, redness
or peeling skin
A rash
Swollen lymph nodes of the neck

2. Recognise the presenting features

Kawasaki disease is a rare condition that mainly affects children under 5
years of age. It causes a severe high fever that does not respond to
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medication and a variety of virus like symptoms. The symptoms
Kawasaki disease usually develop in three phases.

Phase 1 acute (weeks 1-2)

During the acute phase the childs symptoms will appear very suddenly
and can often be severe. These are high fever, conjunctival injection,
rash, changes in hands and feet, swollen lymph glands and changes to
the lips, mouth and tongue (red, dry, cracked, peeling, swollen or
bleeding)

Phase 2 sub-acute (weeks 3-4)

During this phase the symptoms will become less severe but may last
longer. The fever should subside but there may be persistent irritability
and considerable pain. The symptoms during this stage may include
peeling skin, abdominal pain, vomiting, diarrhoea, urine that contains
puss, lethargy, headache, joint pain and jaundice. It is in this phase that
complications such as coronary artery aneurism are likely to develop.

Phase 3 Convalescent (weeks 4-6)

The child will begin to recover and all signs of illness should disappear.
However the child may still lack energy and is easily worn out during this
time. Occasionally complications can also occur in this phase.

3. Be aware of the investigations and treatment options

There is no diagnostic test and the diagnosis is based on clinical findings.
However there can be inflammation of the BCG injection site. They have
high inflammatory markers (CRP, ESR, WBC) with a platelet count that
rises typically in the second week of illness. An aneurysm is most likely to
develop within the first 6 weeks (in 1/3 people) and can be visualised on
echocardiography. Subsequent narrowing of the vessels from scar
formation can cause an MI and sudden death, mortality is 1-2%.

Prompt treatment with IVIG is given within the first 10 days to reduce the
risk of aneurysm. Aspirin is used to reduce the risk of thrombosis and is
given at a high anti-inflammatory dose until the fever subsides and
inflammatory markers return to normal, and continue at a low dose until
echo at 6 weeks is normal. If the platelet count gets very high then
antiplatelet agents may be used. If there is a large aneurysm then long
term warfarin therapy may be needed. If the fever recurs then a second
dose of IVIG is needed. Persistent inflammation and fever may require
treatment with infliximab, steroids or ciclosporin.

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4. List the long term complications

Aneurysm occurs in up to 33% which can lead to death. Up to 25% of
untreated children may experience complications associated with their
heart. These children are at a higher risk of developing cardiovascular
complications later in life.

Immunosuppression

1. Appreciate the causes of immunosuppression in children

Immunosuppression involves an act that reduces the activation of efficacy
of the immune system. In general there is deliberate suppression of the
immune system to prevent the body from rejecting an organ transplant,
treating graft versus host disease or after a bone marrow transplant. It
can also be used when treating an autoimmune disease such as Crohns
diseases or rheumatoid arthritis. This is typically done with drugs but may
involve splenectomy or radiation. Immunosuppression can be divided into
deliberate and non-deliberate:

Deliberate immunosuppression includes the use of drugs and in ideal
circumstances these should not cause immunodeficiency, but can lead to
it and increase the likelihood of infection and decreased cancer
surveillance. Common reasons to use these in children are a bone marrow
transplant and any organ transplantation.

Non-deliberate immunosuppression can occur due to malnutrition, aging,
certain types of cancer (leukaemia, lymphoma, and multiple myeloma)
and certain infections leading to AIDS. This can also be due to an
undesirable effect of drugs used to treat other conditions.

2. Outline a strategy for prevention and treatment of infection

Strategies should be similar to those outlined in the objective below.
Immune levels need monitoring if deliberately suppressed and there
should be prophylactic antibiotic cover as well as a decreased threshold
for IV treatment.

With non-deliberate immunosuppression there needs to be treatment of
the cause, if possible, as well as antibiotic cover.

Immunodeficiency

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1. List the main causes of immunodeficiency

This group of diseases refers to defective immune function, these
disorders are characterised as either:
Primary (uncommon) an intrinsic defect in the immune system
that is present at birth and is either inherited or congenital. Most
commonly they are due to mutation on genes associated with
immunological functions, most are autosomal recessive, with a few
being autosomal dominant or x-linked.
Secondary (more common) caused by another disease or
treatment, such as an intercurrent bacterial or viral infection,
malignancy, malnutrition, HIV infection, immunosuppressive
therapy, splenectomy or nephrotic syndrome.

Immunodeficiencies are characterised by infections that sent to be
Serious, Persistent, Unusual and Recurrent (SPUR). The type of defect
often relates to the infections seen in that disease.

T-cell defects

These are severe and/or unusual viral and fungal infections and failure to
thrive in the first months of life e.g. severe bronchiolitis, diarrhoea, oral
thrust and PCP.

Severe combined immunodeficiency (SCID) a heterogeneous
group of inherited disorders of profoundly defective cellular humoral
immunity altering both T and B cell lymphocytes. It is only treatable
by bone marrow transplantation
HIV infection causes a progressive T cell deficiency
Wiskott-Aldrich a triad with thrombocytopenia and eczema (x-
linked)
DiGeorge with maldevelopment of the 5
th
brachial arch causing
heart defects, placental and facial defects, an absent thymus and
hypocalcaemia
Duncan syndrome inability to make a normal response to EBV and
child either succumbs to infection or develops secondary lymphoma
Ataxia telangiectasia defect in DNA repair, also increased risk of
lymphoma. There is cerebellar ataxia and developmental delay

B-cell defects

In the first 2 years (beyond infancy due to passive immunity) there are
severe bacterial infections, especially of the ear, sinus, skin and
pulmonary system. There is often diarrhoea and failure to thrive.
Recurrent pneumonias can lead to bronchiectasis; recurrent ear infections
to impaired hearing.

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X-linked agammaglobulinaemia abnormal tyrosine kinase gene,
eseential for B-cell maturation
Common variable immunodeficiency (CVID) B cell deficiency, high
risk of autoimmune disorders and malignancy. Later onset than
above
Hyper IgM syndrome B cells produce IgM but prevented from
switching to IgG and IgA
Selective IgA deficiency most common primary immune defect.
Usually asymptomatic or recurrent ear, sinus and pulmonary
infections

Neutrophil defects

Recurrent bacterial infections abscesses (skin, lymph nodes, lung, liver,
spleen, bone), poor wound healing, perianal disease and periodontal
infections; invasive fungal infections such as aspergillosis. Diarrhoea and
failure to thrive. Granulomas from chronic inflammation.

Chronic granulomatous disease most are x-linked recessive, some
autosomal recessive. Defect in phagocytosis as fail to produce
superoxide after ingestion of micro-organism

Leucocyte function defects

Delayed separation of umbilical cord, delayed wound healing, chronic skin
ulcers and dee-seating infection.

Leucocyte adhesion deficiency (LAD) deficiency of neutrophil
surface adhesion molecules leads to inability of neutrophils to
migrate to sites of infection/inflammation

Complement defects

Recurrent bacterial infections, SLE like illness, recurrent meningococcal
infections with deficiency of the terminal complement components.

Early complement component deficiency
Terminal complement component deficiency
Mannose-binding lectin (MBL) deficiency

2. Outline a strategy for prevention and treatment of infection

Management options include:
Antimicrobial prophylaxis for T-cell and neutrophil defects give
cotrimoxazole to prevent pneumocystis jiroveci infection and
itraconazole or fluconazole to prevent other fungal infections. For B-
Page | 357

cell defects give antibiotic prophylaxis (e.g. azithromycin) to
prevent recurrent bacterial infections
Antibiotic treatment prompt treatment of infections, appropriate
choice of antibiotics and a generally longer courses with lower
threshold for IV therapy.
Screen for end organ disease e.g. CT scan in children with antibody
deficiency to detect bronchiectasis
Immunoglobulin replacement therapy for children with antibody
deficiency and can be given IV so a central venous line may be used
Bone marrow transplantation can be a matched sibling donor,
matched unrelated donor or haploidentical transplant. Used for
SCID and chronic granulomatous disease
Gene therapy for certain forms of SCID but associated with a risk
of leukaemia

Typhoid Fever

1. Have a basic understanding of the clinical features and treatment

A child with worsening fever, headaches, cough, abdominal pain,
anorexia, malaise and myalgia may be suffering from infection with
salmonella typhi or paratyphi. Gastrointestinal symptoms (diarrhoea or
constipation) may not appear until the second week. Splenomegaly,
bradycardia and rose-coloured spots on the trunk may be present. The
serious complications of this disease include gastrointestinal perforation,
myocarditis, hepatitis and nephritis. The recent increase in multi-drug
resistant strains, particularly in the Indian subcontinent, means that
treatment with cotrimoxazole, chloramphenicol or ampicillin may be
inadequate. A third generation cephalosporin or azithromycin is usually
effective. Typhoid is contracted from contaminated drinking water or food.

Malaria

1. Outline the clinical features, including cerebral malaria, and the main
treatment options

Children are the worst affected, especially children aged 6 months to 5
years. In parts of the world where malaria is endemic it may causes as
many as 10% of all deaths in children. The clinical features include fever
(often not cyclical), diarrhoea, vomiting, flu-like symptoms, jaundice,
anaemia and thrombocytopenia. Whilst typically the onset is 7-10 days
after inoculation, infection can present many months later. Children are
particularly susceptible to severe anaemia and the gravest form of the
disease, cerebral malaria. The infection is diagnosed by examination of a
thick film.
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Cerebral malaria is a rapidly developing encephalopathy which only occurs
in 20-50% of people who develop malaria. It occurs when parasites
adhere to the cerebral microvasculature causing blockage. This loads to a
shortage of oxygen to this site and therefore numerous complications.
Around half these patients have elevated ICP and seizures.

Treatment is usually quinine for plasmodium falciparum because of the
emergence of chloroquine resistant strains worldwide. Travellers to
endemic areas should always seek up to date information on malaria
prevention. Prophylaxis reduces but does not eliminate the risk of
infection. Prevention of mosquito bites with repellents and bed nets is also
important. In many countries there has been a marked reduction in the
incidence of malaria in children from insecticide-treated bed nets, indoor
residual spraying of houses with insecticides, destruction of mosquito
larvae and breeding areas and prompt treatment with artemisinin based
combination therapy.

Musculoskeletal

Congenital Dislocated Hip (development dysplasia)

1. Be able to discuss the incidence, risk factors, screening tools,
presentation and basic management

This is a spectrum of disorders ranging from dysplasia to subluxation
through to frank dislocation of the hip. Early detection is important as it
usually responds to conservative treatment. Late identification is usually
associated with hip dysplasia, which requires complex treatment often
including surgery. Neonatal screening is performed as part of the routine
examination of the newborn checking if the hips can be dislocated
posteriorly out of the acetabulum (Barlow manoeuvre) or can be relocated
back into the acetabulum on abduction (Ortolani manoeuvre). These tests
are repeated at 8 weeks of age for routine surveillance. Thereafter
presentation is usually with a limp or abnormal gait. It may also be
identified from asymmetry of skin folds around the hip, limb abduction of
the hip or shortening of the affected leg.

On neonatal screening an abnormality of the hip is detected in about 6-10
per 1000 live births. Most will resolve spontaneously. The true birth
prevalence of DDH is 1.3 per 1000 live births. Risk factors include being
female (6 times more likely), a positive family history (20% of affect
infants), if the birth is breech (30% of affected infants) or if the infants
has a neuromuscular disorder.

Page | 359

Sometimes an examination may miss DDH so an ultrasound may be done
in some centres where DDH is still suspected in the infant. If DDH is
found then an ultrasound examination will reveal the quality of the hip
and quantity of dysplasia. If the ultrasound is abnormal then the infant
may be placed in a splint or harness to keep the hip flexed and abducted
for several months. Progress is monitored by ultrasound or x-ray. In most
instances a satisfactory response is obtained. Surgery is required if
conservative measures fail.

Osteomyelitis

1. Understand the clinical features, causative factors, investigations,
immediate intervention and management

In osteomyelitis there is infection of the metaphysis of long bones. The
most common sites are the distal femur and proximal tibia but any bone
may be affected. It is usually due to haematological spread of the
pathogen, but may arise by direct spread from an infected wound. The
skin is swollen directly over the affected site. Where the joint capsule is
inserted distal to the epiphyseal plate, as in the hip, osteomyelitis may
spread to cause septic arthritis. Most infections are caused by
staph.aureus, but other pathogens include streptococcus and Hib if not
immunised. Infection due to TB or sickle cell disease need to be
considered.

Presentation is usually with a markedly painful, immobile limb
(pseudoparesis) in a child with an acute febrile illness. Directly over the
infected site there will be swelling and exquisite tenderness, and it may
be erythematous and warm. Moving the limb causes severe pain. There
may be a sterile effusion of an adjacent joint. Presentation may be more
insidious in infants, in whom swelling or reduced limb movement is the
initial sign. Beyond infancy, presentation may be with back pain in a
vertebral infection or with a limp or groin pain in infection of the pelvis.
Occasionally there can be multiple foci.

Investigations should include blood cultures, which are usually positive,
and a white blood cell count and acute-phase reactants which should both
be raised. X-rays are initially normal, other than showing soft tissue
swelling; it takes 7-10 days for subperiosteal new bone formation and
localised bone rarefaction to become visible. Ultrasound may show
periosteal elevation at presentation. An MRI allows identification of
infection in the bone and differentiation of bone from soft tissue infection.
A radionuclide bone scan may be helpful if the site of infection is unclear.

Treatment should be prompt with IV antibiotics for several weeks to
prevent bone necrosis, chronic infection, a discharging sinus, limb
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deformity and amyloidosis. Antibiotics are given IV until there is clinical
recovery and the acute-phase reactants have returned to normal,
followed by oral therapy for several weeks. Aspiration or surgical
decompression of the subperiosteal space may be performed if the
presentation is atypical or in immunodeficiency children. Surgical drainage
is performed if the condition does not respond rapidly to antibiotic
therapy. The affect limb is initially rested in a splint and subsequently
mobilised.

2. Know about atypical presentations; subacute and chronic osteomyelitis

Subacute osteomyelitis

This is a distinct form of osteomyelitis and is difficult to diagnose because
the characteristic signs and symptoms of the acute form of disease are
absent. The disease has an insidious onset, mild symptoms, and lacks a
systemic reaction, and supportive laboratory data are inconsistent.
Subacute osteomyelitis can mimic various benign and malignant
conditions which can delay diagnosis. The presenting symptoms include
mild to moderate localised pain, usually exacerbated by unusual physical
activity. Night pain is common, but relieved by aspirin, and there is
minimal loss of function. On examination there is localised tenderness,
occasionally associated with warmth, redness and soft tissue swelling.
Pain may occur with movement of the adjacent joint and some joint
effusion may be present. The surrounding muscle may show signs of
wasting. The average duration of symptoms before diagnosis is 1-6
months.

Chronic osteomyelitis

If acute osteomyelitis is not treated it can progress to chronic
osteomyelitis, producing permanent damage. Chronic osteomyelitis can
also develop as a complication of pre-existing infection from syphilis. Multi
organism infections are common with chronic osteomyelitis. Symptoms
include bone pain, persistent fatigue, pus draining from a sinus, local
swelling, skin changes, excessive sweating and chills.

3. Be aware of risks of undertreated/untreated infection

Left untreated this condition can spread to other bones, causing
widespread infection, sepsis and even death. With chronic disease there is
destruction of bone which is permanent and may result in the need for
amputation due to poor vascularisation of the remaining bone.

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Septic Arthritis

1. Describe the epidemiology, aetiology, pathogenesis, clinical features,
investigations and management

Septic arthritis is a serious infection of the joint space, as it can lead to
bone destruction. It is most common in children <2 years old but an
actual incidence is not known. A higher incidence is seen in boys. It
usually results from haematological spread but may also occur following a
puncture wound or infection skin lesions, e.g. chickenpox. In young
children it may result from spread from adjacent osteomyelitis into joints
where the capsule inserts below the epiphyseal growth plate. Usually only
one joint is affected with the hip being a particular concern in young
children and infants. Beyond the neonatal period the most common
organism is staph.aureus and usually only one joint is affected. Hib used
to be an important concern and often presented at multiple sites, however
the introduction of the Hib vaccine has seen these cases drop. Underlying
illnesses such as immunodeficiency and sickle cell disease should be
considered.

Presentation is usually with an erythematous, warm, acutely tender joint
with a reduced range of movement, in an acutely unwell, febrile child.
Infants often hold their limbs still (psuedoparesis and pesudoparalysis)
and cry if it is moved. A joint effusion may be detectable in peripheral
joints. In osteomyelitis, although a symptomatic joint effusion may be
present, the tenderness is over the bone, but in up to 15% there is
coexistent septic arthritis. The diagnosis of septic arthritis of the hip can
be particularly difficult in toddlers as the joint is well covered by
subcutanoues fat. Initial presentation may be with a limp or pain referred
to the knee.

Investigations will show a raised white cell count and acute-phase
reactants. Blood cultures must be taken. An ultrasound of the deep joints,
such as the hip, is helpful to identify an effusion. X-rays are used to
exclude trauma and other bony lesions. However, in septic arthritis, the
x-rays are initially normal, apart from widening of the joint space and soft
tissue swelling. A bone scan may be helpful and an MRI may demonstrate
an adjacent osteomyelitis. Aspiration of the joint space under ultrasound
guidance for organisms and culture is the definitive diagnosis. Ideally this
is performed immediately unless it would significantly delay the
administration of antibiotics.

Treatment is a prolonged course of antibiotics, initially IV. Washing out of
the joint or surgical drainage may be required if resolution does not occur
rapidly, or if the joint is deep seated such as at the hip. The joint is
initially immobilised in a functional position, but subsequently must be
mobilised to prevent permanent deformity.
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2. Be aware of special cases such as neonates, hip joint involvement,
various organisms (such as tuberculosis), and septic arthritis in
immunocompromised patients

Hip involvement see above

Neonates staph.aureus is most common but E.coli and group B strep
also cause disease

TB a rare cause of chronic pyogenic arthritis and can affect the spine

Immunocompromised

Fractures

1. Understand common types of fractures and principles of management

Firstly it should be noted that fractures can be a sign of NAI, especially in
those below 30 months. The most common signs of NAI fractures are ribs
(posterior), long bones such as the humerus (especially if the child is not
yet mobile), those with multiple fractures and those with complex skull
fractures. It is also important to rule out conditions such as osteogenesis
imperfect and copper deficiency that lead to a higher chance of fractures.

The epidemiology of fractures is different from adults. The risk of fracture
increases with age and boys are more likely to sustain one. Trauma whilst
playing sports or from playing events are the causes of the majority of
fractures. The most common location is the upper extremities and
includes:
Distal forearm 22.7%
Hand, phalanges 18.9%
Carpal-metacarpal 8.3%
Clavicle 8.1%: immobilise with a sling for 4-6 weeks
Ankle 5.5%

The management principles are to control haemorrhage, treat pain,
prevent limb ischaemia and remove potential sources of contamination.
Once this has been done the fracture should be reduced and the reduction
maintained. These should then be immobilised and splinted before being
cast.

Juvenile Idiopathic Arthritis

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1. Outline the classification/subtypes of JIA including differences between
these

This is the commonest chronic inflammatory joint disease in children and
adolescents in the UK. It is defined as persistent joint swelling (of >6
weeks duration) presenting before 16 years of age and in the absence of
infection or any other defined cause. It has a prevalence of 1 in 1000
children. There are numerous different subtypes and the disease is
classified by the number of joints affected in the first 6 months:
polyarthritis (>4) and oligoarthritis (4 or less) or systemic (with fever and
rash). Features in the history are gelling (stiffness after periods of rest),
morning joint stiffness and pain. Initially there may be only minimal
evidence of joint swelling but subsequently there may be joint swelling
and inflammation. Long term there can be bone expansion from
overgrowth which can cause various deformities as well as causing
advanced bone age. The types are as follows:

Oligoarthritis persistent (49%)
Age of onset 1 to 6 years
Sex ratio (F:M) 5:1
Articular pattern 1-4 (max) joints involved; knee, ankle or wrist
are the most common
Extra-articular features chronic anterior uveitis in 20%, leg length
discrepancy.
Laboratory abnormalities ANA+/-
Prognosis - Excellent

Oligoarthritis extended (8%)
Sex ratio (F:M) 5:1
Articular pattern >4 joints involved after first 6 months. An
asymmetrical distribution of large and small joints
Extra-articular features Chronic anterior uveitis in 20%,
asymmetrical growth.
Laboratory abnormalities ANA+/-
Prognosis - Moderate

Polyarthritis RF negative (16%)
Sex ratio (F:M) 5:1
Articular pattern Symmetrical large and small joint arthritis, often
with marked finger involvement. Cervical spine and
temporomandibular joint may be involved
Extra-articular features Low-grade fever, chronic anterior uveitis
in 5%, late reduction of growth rate.
Laboratory abnormalities None
Prognosis - Moderate
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Polyarthritis RF positive (3%)
Sex ratio (F:M) 5:1
Articular pattern Symmetrical large and small joint arthritis, often
with marked finger involvement
Extra-articular features Rheumatoid nodules in 10%, similar to
adult RA.
Laboratory abnormalities RF+ long term
Prognosis - Poor

Systemic arthritis (9%)
Sex ratio (F:M) 1:1
Articular pattern Oligoarthritis or polyarthritis. May have aches
and pains in joints and muscles (arthralgia/myalgia) but initially no
arthritis.
Extra-articular features Acute illness, malaise, high daily fever
initially, salmon pink macular rash, lymphadenopathy,
hepatosplenomegaly and serositis.
Laboratory abnormalities Anaemia, raised neutrophils and
platelets, high acute-phase reactants
Prognosis Variable to poor

Psoriatic arthritis (7%)
Sex ratio (F:M) 1:1
Articular pattern Usually asymmetrical distribution of large and
small joints, dactylitis
Extra-articular features Psoriasis, nail pitting or dystrophy, chronic
anterior uveitis in 20%
Laboratory abnormalities None
Prognosis Moderate

Enthesitis-related arthritis (7%)
Sex ratio (F:M) 1:4
Articular pattern Lower limb, large joint arthritis initially, mild
lumbar spine or sacroiliac involvement later on
Extra-articular features Enthesitis which is localised inflammation
at insertion of tendons or ligaments into bones, often at the feet
(Achilles insertion). There is occasional acute uveitis
Laboratory abnormalities HLAB27+
Prognosis Moderate

Undifferentiated arthritis (1%)
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Sex ratio (F:M) 2:1 (variable)
Articular pattern Overlapping articular and extra-articular patterns
between 2 subtypes or insufficient criteria for sub-classification
Extra-articular features Variable
Laboratory abnormalities Variable
Prognosis Variable

2. Outline the known associated conditions such as uveitis

Chronic anterior uveitis this is a common but asymptomatic condition
and can lead to severe visual impairment. Regular ophthalmological
screening using a slip lamp is indicated, especially for children with
oligoarticular disease.

Flexion contractures of the joints these occur when the joint is held in
the most comfortable position, thereby minimising intra-articular
pressure. Chronic untreated disease can lead to joint destruction and the
need for joint replacement.

Growth failure this may be generalised from anorexia, chronic disease
and system corticosteroid therapy. May also be localised overgrowth such
as leg length discrepancy due to prolonged active knee synovitis and
undergrowth, such as micrognathia, usually seen in long-standing or sub
optimally treated arthritis due to premature fusion of epiphyses.

Constitutional problems anaemia of chronic disease, delayed puberty

Osteoporosis multifactorial aetiology, including diet, reduced weight
bearing, systemic corticosteroids and delayed menarche. Reduced risk by
dietary supplements of calcium and vitamin D; regular weight bearing
exercises; and minimise oral corticosteroids use and sometimes
bisphosphonates.

Amyloidosis very rare now, causes proteinuria and subsequent renal
failure and has a high mortality.

3. Appreciate the role of the multidisciplinary team members during the
management of these patients

All children suspected of having JIA should be managed by a specialist
paediatric rheumatology multidisciplinary team, often working in shared
care with local hospitals.

4. Understand common drugs used and importance of treatment
Page | 366

NSAIDs and analgesia do not modify disease but help relieve symptoms
during flares

Joint injections these are increasingly being done under ultrasound
guidance as it is more effective. These are first-line treatment for
oligoarticular JIA; in polyarticular disease multiple joint injections are
used as bridging agents when starting methotrexate. These often require
sedation with inhaled anaesthesia (Entonox)

Methotrexate early use reduces joint damage. It is effective in
approximately 70% with polyarthritis, less effective in systemic features
of JIA. It is given as a weekly dose (tablet, liquid or injection) and regular
blood monitoring is required (for abnormal liver function and bone
marrow suppression). Nausea is common.

Systemic corticosteroids avoid if possible, to minimise the risk of growth
suppression and osteoporosis. Pulsed IV methylprednisolone often used
for severe polyarthritis as an induction agent. It may be life-saving for
severe systemic arthritis or macrophage activation syndrome.

Cytokine modulators and other immunotherapies Many agents (e.g.
anti-TNF alpha, IL-1, CTLA-4 or IL-6) are now available and useful in
severe disease refractory to methotrexate. Costly and given under strict
national guidelines with registries for long-term surveillance. T-cell
depletion coupled with autologous haematopoietic stem cell rescue (bone
marrow transplant) is an option for refractory disease.

The child should also be encouraged to take part in all activities apart
from contact sports during active flares. With optimal care most children
can be managed as outpatients.

5. Be aware of outcome measures used

Long term studies have shown that at least 1 in 3 children will have
ongoing active disease into adult years, with significant morbidity from
previous inflammation, such as joint damage requiring joint replacement
surgery, visual impairment from uveitis, or fractures from osteoporosis.

Outcome measures include clinical damage, quality of life and measures
of physical function.

Perthes Disease

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1. Outline the aetiology, presentation, investigations, prognosis and basic
management

This is an avascular necrosis of the capital femoral epiphysis of the
femoral head due to interruption of the blood supply, followed by
revascularisation and reossification over 18-36 months. It mainly affects
boys (M:F = 5:1) of 5 to 10 years of age. Presentation is insidious, with
the onset of a limp, or hip or knee pain. The condition may initially be
mistaken for transient synovitis. It is bilateral in 10 to 20%. If suspected
x-rays of both hips (including frog views) should be requested; early signs
of Perthes include increased density in the femoral head, which
subsequently becomes fragmented and irregular. Even if the initial x-ray
is normal, a repeat may be required if clinical symptoms persist. A bone
scan and MRI scan can be helpful in making the diagnosis.

Prognosis is dependent on early diagnosis; if identified early and less than
half the femoral head is affected, only bed rest and traction may be
required. In more severe disease or late presentations, the femoral head
needs to be covered by the acetabulum to act as a mould for the re-
ossifying epiphysis and is achieved by maintaining the hip in abduction
with plaster or calipers, or by performing femoral or pelvic osteotomy.

In most children the prognosis is good, particularly in those below 6 years
of age, with less than half the epiphysis involved. In older children or with
more extensive involvement of the epiphysis, deformity of the femoral
head and metaphyseal damage are more likely, with potential for
subsequent degenerative arthritis in adult life.

Reactive Arthritis

1. Understand the causes, different types, diagnostic criteria, lab
investigations and radiological investigations

Reactive arthritis is the most common form of arthritis in childhood. It is
characterised by transient joint swelling (usually <6 weeks) often of the
ankles or knees. It usually follows (or rarely accompanies) evidence of
extra-articular infection. The enteric bacteria (salmonella, shigella,
campylobacter and yersinia) are often the cause in children, but viral
infections, sexually transmitted infections in adolescents (chlamydia,
gonococcus), mycoplasma and borrelia burgdoferi (Lyme disease) are
other causes. Rheumatic fever and post-streptococcal reactive arthritis
are rare in development countries but are frequent in many developing
countries. Reactive arthritis can be divided into post streptococcal, post
infectious and classical reactive arthritis following GI/urinary tract
infection.

Page | 368

Post streptococcal rarely seen in developed countries. Requires
antibiotic treatment
Classical reactive inflammation in the absence of bacteria in the
joint space.
Post infective includes most others

Fever is generally low grade with inflammation of joints, skin, mucous
membranes, urinary and GI tract. The eyes are also commonly affected.

Acute-phase reactants are normal or mildly elevated and x-rays are
normal. No treatment or only NSAIDs are required and complete recovery
can be anticipated. HLA-B27 is positive in 65-96% of patients. Chronic
cases may require steroids and methotrexate if there is no active
infection. With regards to physical therapy the patient should rest and
avoid using the affected joint. As the symptoms improve there should be
a graded programme of exercise that is designed to strengthen affected
muscle groups and improve the range of movement.

2. Know about pharmacological and physical therapy, along with course
and prognosis

See above for details

Rickets

1. To be aware about pathophysiology, causes, diagnosis and
management

Rickets signifies a failure in mineralisation of the growing bone or osteoid
tissue. Failure of mature bone to mineralise is called oestomalacia. The
predominant cause of rickets during the early twenty-first century was
nutritional vitamin D deficiency due to inadequate intake or insufficient
exposure to direct sunlight. Nutritional rickets still remains the major
cause in the developing world. In developed countries nutritional rickets
has become rare due to formula milk and many breakfast cereals
containing supplemental vitamin D. Nutritional rickets can sometimes be
seen in black or asian infants who are totally breast fed in late infancy. It
is also seen in extremely premature infants from dietary deficiency of
phosphorus together with low stores of calcium and phosphorus. Children
with malabsorptive conditions such as CF, coeliac disease and pancreatic
insufficiency can develop rickets due to deficient absorption of vitamin D,
calcium or both. Drugs, especially anticonvulsants such as Phenobarbital
and phenytoin, interfere with the metabolism of vitamin D and may also
cause rickets. Rickets may also result from impaired metabolic conversion
or activation of vitamin D (hepatic and renal disease).
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Other causes can be divided into:
Nutritional living in northern latitudes, dark skin, decreased sun
exposure maternal vitamin D deficiency, diets low in vitamin D,
phosphorus and calcium, vegan diets and prolonged parenteral
nutrition in infancy
Intestinal malabsorption small bowel enteropathy (coeliac
disease), pancreatic insufficiency, cholestatic liver disease, high
phytic acids in diet
Defective production of 25(OH)D
2
chronic liver disease
Increased metabolism of 25(OH)D
3
enzyme induction by
anticonvulsants
Defective production of 1,25(OH)
2
D
3
hereditary type 1 vitamin D-
resistant rickets, familial hypophosphataemic rickets, chronic renal
disease, fanconi syndrome (renal loss of phosphate)
Target organ resistance to 1,25(OH)
2
D
3
hereditary vitamin D-
dependent rickets type 2

Before mentioning the clinical features it is worth covering the metabolism
of vitamin D.

The sunlight reacts with 7-dehydrocholesterol on the skin to form vitamin
D
3
(cholecalciferol). This enters the liver and is metabolised to 25(OH)D
3
.
This then if free to enter the kidneys where it is hydroxylated again to
form 1,25(OH)
2
D
3
, the most active form of the vitamin.

The earliest sign of rickets is a ping-pong ball sensation of the skull
(craniotabes) elicited by pressing firmly over the occipital or posterior
parietal bones. The costochondral junctions may be palpable, wrists and
ankles may be widened and there may be horizontal depression on the
lower chest corresponding to attachment of the softened ribs and with the
diaphragm (Harrison sulcus). The legs may become bowed. Other clinical
features include:
Misery
Failure to thrive/short stature
Frontal bossing of the skull
Delayed closed of the anterior fontanelle
Delayed dentition
Hypotonia
Seizures (late)

Diagnosis is made from:
A dietary history for vitamin and calcium intake
Blood tests serum calcium is low or normal, phosphorus is low,
plasma alkaline phosphatase activity is greatly increased, 25-
hydroxyvitamin D may be low and parathyroid hormone elevated.
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X-ray of the wrist joint shows cupping and fraying of the
metaphyses and a widened epiphyseal plate.

Management is generally nutritional and involves giving advice about a
balanced diet, correction of predisposing risk factors and by the daily
administration of vitamin D
3
(cholecalciferol). If compliance is an issue a
single high dose of vitamin D
3
can be given, followed by the daily
maintenance dose. Healing occurs in 2 to 4 weeks and can be monitored
from the lowering of alkaline phosphatase, increasing vitamin D levels and
healing on x-rays, but complete reversal of bony deformities may take
years.

2. Outline the role of vitamin D and its deficiency in health bone
development

Outlined above

Slipped Upper Femoral Epiphysis

1. List the risk factors, age distribution, clinical presentation, and basic
interpretation of radiological investigations

This results in displacement of the epiphysis of the femoral head postero-
inferiorly requiring prompt treatment in order to prevent avascular
necrosis. It is most common at 10 to 15 years of age during the
adolescent growth spurt, particularly in obese boys (2.4 times) and is
bilateral in 20% (with the left hip being more commonly affected). There
is an association with metabolic endocrine abnormalities, e.g.
hypothyroidism with hypogonadism, generally in younger children (<10)
where a bilateral presentation is more common. Presentation is with a
limp or hip pain, which may be referred to the knee. The onset may be
acute, following minor trauma or insidious. Examination shows restricted
abduction and internal rotation of the hip. Diagnosis is confirmed on x-
ray, and a frog lateral view should also be requested.

Management is surgical, usually with pin fixation in situ. This should
however be based on whether the condition is acute or chronic (>3
weeks) and whether the joint can bear weight or not. Analgesia including
NSAIDs should also be provided. Following surgery a patient is given
crutches for 6-8 weeks to reduce weight bearing, along with a course of
physiotherapy.

Flat Foot/Forefoot Adduction

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1. Be aware of normality, causes and orthotic management

Flat foot is known as pes planus whilst forefoot adduction is known as
talipes equinovarus or position talipes.

Flat foot

Toddlers learning to walk usually have flat feet due to flatness of the
medial longitudinal arch and the presence of a fat pad which disappears
as the child gets older. An arch can usually be demonstrated on standing
on tiptoe or by passively extending the big toe. Marked flat feet is
common in hypermobility. A fixed flat foot, often painful, presenting in
older children, may indicate a congenital tarsal coalition and requires an
orthopaedic opinion. Symptomatic flat feet are often helped with footwear
advice and, occasionally, an arch support may be required.

In older children and adolescents a rigid flat foot is pathological. It is
suggested by absence of a normal arch on tip-toeing. It may be due to an
associated tendo-Achilles contracture, or tarsal coalition or inflammatory
arthropathy.

Talipes

Positional talipes from intrauterine compression is common. The foot is of
normal size, the deformity is mild and can be corrected to the neutral
position with passive manipulation. Often the babys intrauterine posture
can be recreated. If the positional deformity is marked, parents can be
shown passive exercises by the physiotherapist.

Talipes equinovarus is a complex abnormality. The entire foot is inverted
and supinated, the forefoot adducted and the heel is rotated inwards and
in plantar flexion. The affect foot is shorter and the calf muscle thinner
than normal. The position of the foot is fixed, cannot be corrected
completely and is often bilateral. The birth prevalence is 1 per 1000 live
births, affects predominantly males (2:1), can be familial and is usually
idiopathic. However, it may also be secondary to oligohydramnios during
pregnancy, a feature of a malformation syndrome or of a neuromuscular
disorder such as spina bifida. There is an association with developmental
dysplasia of the hip (DDH).

Treatment is started promptly with plaster casting and bracing (Ponsetti
method), which may be required for many months. It is usually successful
unless the condition is very severe, when corrective surgery is required.

Ostegenesis imperfecta

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1. Be aware of different types of inheritance

This is a group of disorders of collagen metabolism causing bone fragility,
with bowing and frequent fractures. There are many different forms but I
will concentrate on types one to three.

Type one is the most common form and is due to autosomal dominant
inheritance. There are fractures during childhood and a blue appearance
of the sclera with some children developing hearing loss. There is usually
a dilated aortic root and thin heart valves. This accounts for 60% of all
cases and is the mildest form. Fractures can occur at any time with these
being 7 times more common than normal. There may be hypermobility of
the joints and the teeth can be affected. Treatment is with
bisphosphonates to reduce the fracture rate. The prognosis is variable but
the best of the subtypes. Fractures require splinting to minimise joint
deformity.

Type two is a severe, lethal form with multiple fractures already present
before birth. Many affected infants are still born. Inheritance is variable
but mostly autosomal dominant or due to new mutations. In other types
sclera discolouration may be minimal.

Type 3 is a severely progressive form and the child will have various
amounts of immature woven bone. The child may be born with fractures
and, as age increases, there is a noticeable short stature and impaired
dentition.

Osteogeneis imperfecta occurs in roughly 1/20,000 to 1/50,000 live births
and is the leading cause of lethal short limbed dwarfism. In almost all
cases the mode of inheritance is autosomal dominant regardless of the
clinical form. An autosomal recessive form has been identified in some
families in South Africa.

Diagnosis is mostly done prenatal but milder forms may not be picked up
until much later. Treatment is complicated but involves bisphosphonates
to reduce the risk of fractures.

2. Outline the clinical manifestations

See above

Polydactly/Syndactly

1. Know the common associations

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Polydactyly is where there are more than 5 digits on the hands or feet
and occurs in 1 in 1000. Common associated syndromes include trisomy
13, trisomy 21, tibial hemimelia and Ellis-van Creveld syndrome.

Syndactyly is the fusion of two or more digits and occurs in 1 in 2500. It
is also associated with several syndromes including Apert syndrome and
Poland syndrome.

Scoliosis

1. Be aware of the causes, significance, principles of interventional
management

Scoliosis is a lateral curvature in the frontal plane of the spine. In
structural scoliosis there is rotation of the vertebral bodies which causes a
prominence in the back from rib asymmetry. In most cases the changes
are mild, pain free and primarily a cosmetic problems; however, in severe
cases, the spinal curvature can lead to cardiorespiratory failure from
distortion of the chest. Causes of scoliosis include:
Idiopathic the most common, either early onset (<5 years old) or,
most often, late onset, mainly girls 10 to 14 years of age during
their puberty growth spurt
Congenital from a congenital structural defect of the spine e.g.
hemivertebra, spina bifida and syndromes e.g. VACTERL (vertebral,
anorectal, cardiac, tracheo-oesophageal, renal and limb
abnormalities).
Secondary related to other disorder such as neuromuscular
imbalance (e.g. cerebral palsy or muscular dystrophy), disorders of
bone such as neurofibromatosis or of connective tissues such as
Marfan syndrome, or leg length discrepancy e.g. due to JIA of one
knee.

Examination should start with inspection of the childs back while standing
up straight. In mild scoliosis there may be irregular skin creases and
difference in shoulder height. The scoliosis can be identified on examining
the childs back when bent forwards. If the scoliosis disappears on
bending forwards then it is postural although leg length should be
checked.

Mild scoliosis will resolve spontaneously, or progresses minimally. If more
severe, the severity and progression of the curvature of the spine is
determined by x-ray. Severe cases are managed in specialist spinal
centres where the place of non-medical treatment such as bracing will be
considered, with surgery indicated only if severe or there is coexisting
pathology such as neuromuscular or respiratory disease.

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Skeletal Dysplasia

1. Be aware of pathophysiology of skeletal dysplasia, broad classification,
principles of physical and surgical management

In general patients with a disproportionately short stature have skeletal
dysplasia. These are a heterogeneous group of more than 200 disorders
characterised by abnormalities of cartilage and bone growth resulting in
abnormal shape and size of the skeleton and disproportion of the long
bones, spine and head. The pathophysiology is complicated and varies
depending on the condition. However it broadly involves the growth plate,
most commonly affecting the zone of proliferation. This usually results in
impaired strength along with those mentioned above. Intelligence remains
normal. Classification is not clearly mentioned anywhere but these
disorders can be classified by the area of the bone they affect or by
whether they affect formation or structure (i.e. quality or quantity of the
bone).

The most commonly found conditions are:
Achondroplasia autosomal dominance inheritance but about 50%
are new mutations. Clinical features are short stature from marked
shortening of limbs, a large head, frontal bossing and depression of
the nasal bridge. The hands are short and broad. A marked lumbar
lordosis develops and hydrocephalus may occur.
Thanatophoric dysplasia this results in stillbirth. The infants have
a large head, extremely short limbs and a small chest. The
appearance of the bones on x-ray is characteristic. The importance
of the correct diagnosis of this disorder is that, in contrast to
Achondroplasia, its inheritance is sporadic. It can be identified on
antenatal ultrasound.
Cleidocranial dysostosis this is an autosomal dominant disorder
where there is absence of part or all of the clavicles and delay in
closure of the anterior fontanelle and of ossification of the skull. The
child is often able to bring the shoulders together in front of the
chest to touch each other as a party trick. Short stature is usually
present, intelligence is normal.
Arthrogryposis this is a group of disorders where there is stiffness
and contracture of joints with an unknown cause. There are marked
flexion contractures of major joints with dislocating hips, talipes and
scoliosis.
Osteogenesis imperfecta mentioned before

Medical care is mostly supportive with monitoring and correction of major
problems caused by the deformities. Surgical care generally involves
correcting major deformities such as scoliosis but these operations can be
difficult. Physiotherapy and splints can be used in certain cases.
Page | 375

2. Understand roles played by multiprofessional team in management

A multiprofessional team are involved.

Torticollis

1. List the causes for acute presentation and chronic conditions

Torticollis is a flexion, extension or twisting of the muscle in the neck that
allows the neck to move beyond its normal position. This condition can
develop slowly, especially if there is a family history, or with acute trauma
or an adverse reaction to medication.

The most common cause in infants is a sternocleidomastoid tumour. They
can occur in the first few months of life and present with a mobile, non-
tender nodule, which can be felt within the body of the muscle. There
may be restriction of the head turning and tilting of the head. The
condition usually resolves in 2-6 months but passive stretching can help.

Torticollis presenting in later life can be due to muscular spasm or
secondary to ENT infection, spinal tumours, cervical spine arthritis or
malformation or posterior fossa tumour.

2. Outline the management of acute torticollis

Exercise of the neck and remaining active are important to stop the
neck stiffening
Painkillers are useful and should include paracetamol and ibuprofen,
possibly with a muscle relaxant such as diazepam but use caution in
children
Heat packs and good posture
If persistent then botox may help
Surgery is reserved for very severe cases and involve severing the
nerves around the muscle to force relaxation

Transient Synovitis

1. Understand the causes, presentation, differential diagnosis and
management

This is the most common cause of acute hip pain in children. It occurs in
children aged 2 to 12 years old. It often follows or is accompanied by a
Page | 376

viral infection. Presentation is with sudden onset of pain in the hip or a
limp. There is no pain at rest, but there is decreased range of movement,
particularly internal rotation. The pain may be referred to the knee. The
child is afebrile or has a mild fever and does not appear ill. It can be
difficult to differentiate transient synovitis from early septic arthritis of the
hip joint, and if there is any suspicion of septic arthritis, joint aspiration
and blood cultures are mandatory. Investigations should include white cell
count (normal), acute-phase reactants/ESR (slightly high/normal),
ultrasound (fluid in joint) and a radiograph (normal). In a small
proportion of children (3%), transient synovitis precedes the development
of Perthes disease. Management of transient synovitis is with bed rest,
analgesia and, rarely, skin traction. It usually resolves in under a week.

Specials ENT/Dermatology/Ophthalmology

SEE SPECIALS REVISION GUIDE

Clinical Skills

Will not be explained here

Understanding

Normal Development

1. Know the four domains of development with the major developmental
milestones in each

Social Hearing and
communication
Fine motor and
vision
Gross motor
Birth Startle to noise,
quieten to voice
Fix Some limb
flexion in ventral
suspension
6 weeks Smiling
3 months Laughing Single syllable Fix and follow,
4/12 hand regard,
5/12 reach & grab
Hold head in
ventral
suspension,
head control in
pull to sit
6 months No stranger
anxiety
Double syllable Transfer, palmar
grasp
Sit supported,
weight bear,
7/12
unsupported sit
9 months Stranger anxiety Babble Raisin pincer grasp Crawl, pull to
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stand
12
months
Clap, wave,
pattacake, use
beaker
Mama, dada, few
words in context
100s+1000s fine
pincer grasp, turn
pages
Cruise, 13/12
walk
18
months
Use spoon and
bowl
100 words, points
to facial features
3 brick tower,
scribbling
Walk and stoop
2 years Dry by day 2 words together Draw a line, hand
dominance
Jump stairs, two
feet per step
3 years Dry by night Full sentences,
identify colours
Draw a circle, 8
brick tower
Tricycle, stairs
one foot per
step
4 years Dress
themselves
Name colours,
know actions
Draw a cross Each foot 2
seconds
balance, hop
5 years Brush teeth Count to 5 Draw a square Each foot 5
seconds

The above table tries to pick the most important mile stones that link with
the developmental age. For example at 3 years old a child can ride a
tricycle (3 wheels), at 5 years they can count to 5 etc.

2. Be able to identify if a child is developmentally delayed and appreciate
the pattern of normal development

All developmental milestones are an average point at which children
should achieve a skill in a particular chronological order. However, as this
is based on a normal distribution, there will be some children who fail to
reach these milestones at the correct time but who are completely normal
and this should be remembered. If the child is significantly lagging in
particular domains then this will need further investigation and may
indicate a problem. If they are delayed in all domains then this may be
global developmental delay and also needs investigating. Particular limit
ages for developing skills are listed near the start of this guide. This table
gives values that are the mean age of attainment. If a child is premature
then there age will need adjusting to corrected chronological age.

3. Be able to perform a developmental examination using the Denver II
developmental assessment

This doesnt need explaining really. A Denver chart is simple to use and
has instructions. It is important to make sure the child can get three in a
row for each domain to reliably report their developmental age. The key is
in how you word the questions and avoid giving the child clues. A child
can have a maximum of three attempts at each task and should not be
given the benefit of the doubt.
Page | 378

4. Understand the influence of environment and genetic potential on a
childs development

All children are programmed genetically to reach certain potentials (e.g.
height which can be predicted based on parental height). However these
potentials need an appropriate environment, including love, education,
nutrition and shelter, to help them be fully achieved. Hence two identical
twins may be slightly different heights and intelligence.

Normal Growth

1. Know the normal phases of growth and pubertal stages

There are four main phases of human growth:

Fetal
This is the fastest period of growth, accounting for 30% of the eventual
height. Size at birth is determined by the size of the mother and by
placental nutrition, which in turn modulates fetal growth factors. Optimal
placental nutrient supply is dependent on an adequate maternal diet. Size
at birth is largely independent of the fathers height and of growth
hormone. Severe IUGR and extreme prematurity can result in permanent
short stature. Paradoxically low birth weight increases the risk of
childhood obesity.

The infantile phase
Growth during infancy to around 18 months of age is also largely
dependent on adequate nutrition. Good health and normal thyroid
function are also necessary. This phase is characterised by rapid but
decelerating growth rate, and accounts for about 15% of eventual height.
By the end of this phase children have changed from their fetal length,
largely determined by the uterine environment, to their genetically
determined height. An inadequate rate of weight gain during this period is
called failure to thrive.

Childhood phase
This is a slow, steady but prolonged period of growth that contributes to
40% of the final height. Pituitary growth hormone secretion acting to
produce insulin-like growth factor 1 at the epiphyses is the main
determinant of a childs rate of growth, provided there is adequate
nutrition and good health. Thyroid hormone, vitamin D and steroids also
affect cartilage cell division and bone formation. Profound chronic
unhappiness can decrease GH secretion and accounts for psychosocial
short stature.
Page | 379

Pubertal growth spurt
Sex hormones, mainly testosterone and oestradiol, cause the back to
lengthen and boost GH secretion. This adds 15% to final height. The
same sex steroids cause fusion of the epiphyseal growth plates and a
cessation of growth. If puberty is early, which is not uncommon in girls,
the final height is reduced because of early fusion of the epiphyses.

Puberty

Puberty follows a well defined sequence of changes that may be assigned
stages. Over the last 20 years, the mean age at which puberty starts in
girls has lowered. However the age at which menarche occurs remains
stable. In female the signs of puberty:
Breast development the first sign usually starting between 8.5
and 12.5 years
Pubic hair growth and rapid height spurt almost immediately after
breast development
Menarche on average it occurs 2.5 years after the start of puberty
and signs growth is coming to an end with only around 5cm height
gain remaining.

In males there is:
Testicular enlargement to >4ml volume measured using an
orchidometer. This is the first sign of puberty.
Pubic hair growth follows testicular enlargement usually between
10 and 14 years
Height spurt when the testicular volume is 12-15ml after a delay
of around 18 months

Breast development
BI prepubertal
BII breast bud
BIII juvenile smooth contour
BIV areola and papilla project above breast
BV adult

Pubic hair changes
PHI pre-adolescent (no hair)
PHII sparse, pigmented, long, straight, mainly along labia or base of
penis
PHIII dark, coarser, curlier
PHIV filling out towards adult distribution
PHV adult in quantity and type with spread to medial thighs in males

Male genital stages
GI preadolescent
Page | 380

GII Lengthening of penis
GIII Further growth in length and circumference
GIV development of glans penis, darkening of scrotal skin
GV adult genitalia

Menstruation has a wide range of normal variation. The normal cycle
length varies between 21 and 45 days. The length of blood loss varies
between 3 and 7 days and the average blood loss per cycle is <80ml.
Passage of blood clots or the use of more than 6 pads per days indicates
heavy bleeding and need evaluation. Rarely it can indicate a clotting
disorder such as von Willebrand disease.

2. Know what and how to measure in order to monitor a childs growth

Weight electronic scales and with a naked infants or a child dressed to
only underwear and no shoes

Height if child is over 2 then standing height is measured otherwise a
horizontal length is measured.

Head circumference the occipitofrontal circumference is a measure of
head and hence brain growth. The maximum of three measurements is
used. It is a good measure of developmental delay or hydrocephalus.

This data should be plotted on a growth chart. The charts are based on
babies breast fed to 6 months.

Circulatory Changes at Birth

1. Know the anatomical and physiological differences of antenatal and
postnatal circulation

See the neonatal section for same objective

2. Know the major conditions resulting from delay/failure of normal
neonatal circulatory adaptation (PDA, PFO).

A patent ductus arteriosus has been discussed in the cardiac section.
Major conditions include heart failure and pulmonary hypertension.

A patent foramen ovale occurs when the normal shunt between the left
and right atria fails to close. This produces the same results as an ASD
which include recurrent chest infections. In later life this connection
Page | 381

increases the risk of blood clots causing strokes or TIAs. Major conditions
include arrhythmias and heart failure in later life.

Changes at Birth

1. Outline the anatomy and physiology of foetal respiratory system

2. Understand the changes in physiology to the respiratory system at
birth


3. Understand the implications of delay/failure of respiratory adaptation in
a newborn (Transient tachypnoea of the newborn, RDS in prematurity)


4. Know the APGAR score

Score
0 1 2
Heart Rate Absent <100bpm 100bpm
Respiratory Effort Absent Gasping or irregular Regular, strong cry
Muscle Tone Flaccid Some flexion of
limbs
Well flexed, active
Reflex Irritability None Grimace Cry, cough
Colour Pale/blue Body pink,
extremities blue
Pink

This is a quick method of assessing newborns for any problems.

Respiratory and Cardiac Physiology and Variation in Children

1. Have a general understanding/knowledge of the development, growth
and differentiation of the respiratory tract and the cardiovascular system

Feeding and Nutrition

1. Understand the nutritional requirements of children of different ages

Age Energy (kcal/kg/24h) Protein (g/kg/24h)
0-6 months 115 2.2
Page | 382

6-12 months 95 2.0
1-3 years 95 1.8
4-6 years 90 1.5
7-10 years 75 1.2
Adolescence (Male/Female)
11-14 years 65/55 1.0
15-18 years 60/40 0.8

2. Understand the varied effects of malnutrition and over nutrition in
childhood

See gastroenterology section for same objective

3. Be able to assess the nutritional status of a child


Breast and Formula Feeding

1. Know the advantages and disadvantages of breast feeding


Genetic Newborn Screening

1. Understand the importance of newborn screening and its purpose

See neonatology section for same objective

2. Know the screening methods/tests involved and the conditions being
checked for in routine newborn screening


The Guthrie Test Screening

1. Understand the importance and justification of biochemical screening
(Guthrie test)


Page | 383

2. Know the time frame and the conditions being tested for in Guthrie test


Immunisation Schedule

1. Be able to list the current UK immunisation schedule

In the newborn the BCG is given to those children at high risk of infection
(usually family relatives from endemic countries or if they are being taken
to such countries).

At 2, 3 and 4 months the 5 in 1 vaccine is given against diphtheria,
tetanus, pertussis, H.influenzae type B and polio. The oral live polio
vaccine has been replaced by killed vaccine given by injection due to the
risk of transmission to unimmunised people and if immunocompromised.

At 2, 4 and 13 month the pneumococcal conjugate vaccine (PCV) is given

At 3 and 4 months the conjugate meningitis C vaccine is given

At 12 to 13 months a booster of Hib is given, Men C and MMR are given

At 12 to 13 years of age the HPV vaccine is given to girls

BCG is no longer given to adolescents

Birth 1
month
2
months
3
months
4
months
12-13
months
3 years,
4
months+
12-13
years
13-18
years
BCG At risk
Hep B At risk At risk At risk At risk
5 in 1
PCV
MenC
Hib/MenC
MMR
DTap/IPV
HPV
(girls)

Td/IPV

2. Be aware of the main contraindications to vaccinations
Page | 384

Following vaccination, there may be swelling and discomfort at the
injection site and a mild fever and malaise. Some vaccines, such as
measles and rubella, may be followed by a mild form of the disease 7-10
days later. More serious reactions, including anaphylaxis, may occur but
are very rare. Vaccination should be postponed if the child has an acute
illness; however a minor infection without fever or systemic upset is not a
contraindication. Live vaccines should not be given to children with
impaired immune responsiveness (except in children with HIV infection in
whom MMR vaccine can be given). Children with an allergy to eggs should
be immunised with MMR under medical supervision. There is a 10%
failure rate from primary vaccination with MMR at 12-13 months of age,
but the proportion of susceptible school-age children in the UK has been
reduced by the introduction of a preschool booster of MMR.

3. Understand the principles of public health in relation to the vaccination
program

The main principle of the vaccination program is that of herd immunity.
Immunisation uptake is never 100% for any disease, either due to
personal choice or the inability to have the vaccine. However, if around
90% of the population is vaccinated (percentage varies according to
disease) then this is high enough to prevent an epidemic and high spread
rate of the pathogen. Hence the vaccination program not only aims to
reduce the morbidity and mortality of these pathogens but also aims to
drastically reduce their spread.

Diphtheria infection causes local disease with membrane formation
affecting the nose, pharynx or larynx or systemic disease with myocarditis
and neurological manifestations.

Pertussis causing whooping cough

Hib causes numerous problems

Polio most children are asymptomatic but some develop aseptic
meningitis and develop paralysis.

Meningococcal C reduces the risk of meningitis or sepsis

Pneumococcal reduces the incidence of pneumonia

HPV used in girls before they are sexually active

Health Surveillance and Screening
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1. Know the main elements of the program (immunisation, health
promotion, screening for physical and developmental problems)

In the UK the healthy child programme (HCP) was introduced in 2009 and
spans from pregnancy to 19 years old but the main emphasis is on ages 0
to 5. It offers families a programme of screening tests, immunisation,
developmental reviews (including specific screening at 2 years) and
health promotion. There is a universal programme as well as a
progressive programme for families thought to be more at risk. Those in
the program include infants and children with health or developmental
problems, children at increased risk of obesity or families considered to be
high risk e.g. drug and alcohol use.

Screening
Newborn baby check
5-8 days heel prick and Guthrie
6-8 weeks physical exam
3 and 4 months reviews
7-9 months systematic assessment of physical, social and
emotional development
12-13 months review
2 years assessment of developmental progress
3-5 years review
5 years or before hearing test, growth assessment and orthoptist
5-11 years share information between school and health services
11-16 years health review
16-19 years sharing of information

Health promotion

This includes various health advice and information throughout the childs
life. Examples include the birth to five book and the sexual health
promotion campaigns.

2. Understand the importance and purpose of child health surveillance
and promotion in context of public health

This scheme is effective as it allows the important information to be given
when it is most needed. It is targeted so avoids wasting money on
expensive advertising campaigns. This information is very useful for
parents and children to know and helps reduce the amount of
consultations on such issues.

Child Protection and Legal Issues
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1. Know the different types of child abuse

See the same objective above in community paediatrics

2. Know key features and possible presentations of child abuse and non-
accidental injury

See the same objective above in community paediatrics

3. Understand the role of a paediatrician in child protection and the need
to follow safeguarding guidelines and legal protocols for management of
suspected abuse or non-accidental injury.

Each hospital will have a designated paediatrician who deals with all
suspected abuse. They are specially trained to exam the child for forensic
evidence as well as appropriately manage the legal and guideline side of
things.

The Multidisciplinary Team

1. Understand the purpose and importance of multidisciplinary approach
to child health

Should learn this from the placement without a problem

2. Be aware of the professionals involved in a multidisciplinary team in
community paediatrics and the hospital setting and their area of expertise


3. Understand the need for coordination of multidisciplinary care for an
individual child/family and that the needs of these change with time


Common Haematological and Biochemical Abnormalities

1. Know the common causes, clinical features and initial management of
anaemia in infants and children

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See the anaemia section under haematology.

2. Be able to interpret basic FBC, U&E and LFT results

Reference ranges will be given so I assume this objective means
recognising patterns of abnormality. There are so many that it is beyond
the scope of this section. Individual abnormalities will have been
mentioned in their respective sections.

The Use of LP/CSF analysis

1. Know the main indications and contraindications of LP/CSF analysis

Indications

These include suspected meningitis or encephalitis, a suspected
subarachnoid haemorrhage (if CT is normal) and diagnosing or ruling out
sepsis in the neonatal period as part of a septic screen. Other indications
include the diagnostic work up of certain malignancies, seizures,
metabolic disorders and other neurological disorders (e.g. MS, GBS).

Contraindications

There are several serious contraindications to conducting a lumbar
puncture. These include cardiorespiratory instability, focal neurological
signs, signs of raised ICP (e.g. coma, high BP, low heart rate or
papilloedema), coagulopathy, thrombocytopenia, local infection at the site
of the LP or if it causes an undue delay in starting antibiotics.

2. Know the typical changes in CSF values in meningitis (bacterial, viral,
TB)

Appearance White Cells Protein Glucose
Normal Clear 0-5/mm
3
0.15-0.4
g/l
50% of blood
Meningitis Bacterial Turbid Neutrophils
++
Increased Decreased
Viral Clear Lymphocytes
+
Normal /
increased
Normal /
decreased
TB Turbid/clear/viscous Lymphocytes
+
Very high Very low

Electrolyte Disturbances
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1. Be able to assess the hydration status of a child, recognise signs and
symptoms of dehydration and estimate the fluid deficit

This is covered in the gastroenterology section.

The gold standard to assess dehydration is to use the childs previous
weight and compare this to their existing weight to get a percentage
change. However these weights are rarely available and have to be
relatively recent. Therefore the percentage dehydration is usually
estimated on clinical signs as mild, moderate or severe. Now the amount
of fluid replacement given for each of these categories seems to vary
from source to source so hopefully the exam will give a percentage
dehydration rather than mild, moderate or severe. However the lead
surgical teacher at QMC (Mr Singh) recommends that mild dehydration is
5% dehydrated, moderate is 10% and severe is 15%.

From this the following calculation can be used to estimate the deficit:
Deficit in ml = % dehydration x weight (kg) x 10

I found it easier to remember that for every 1% dehydrated the child will
require 10ml/kg so for example a 10% dehydration needs 100ml/kg
replacement as well as maintenance fluids.

As far as I am aware this fluid is given over 24 hours along with the
maintenance fluids rather than as a bolus.

The type of fluid is again difficult to choose as each clinical teacher will
have their own preference. For the exam you should be given the name of
the fluid so this shouldnt be a problem. If required then I would give the
answer of 0.9% NaCl with 5% dextrose to help the fluid remain in the
intravascular space. 10% dextrose can be given if the patient is
hypoglycaemia. 0.18% NaCl should be avoided as it can quickly lead to
hyponatraemia.

2. Be able to calculate the maintenance fluids

The first 10kg of weight is 100ml/kg
The second 10 kg of weight is 50ml/kg
The remaining weight is 20ml/kg

These figures are only enough to cover normal losses e.g. urine. If there
are excessive losses such as a high output stoma or diarrhoea then this
needs to be measured for fluid volume and then this volume needs adding
on top of the maintenance fluids. For example, if a high output stoma
Page | 389

produces 200ml of fluid then 200ml needs adding to the maintenance
figure per 24 hours.

3. Understand the difference between isonatraemic, hyponatraemia and
hypernatraemic dehydration and the implications for its clinical
presentation and management

Isonatraemia should be normal for most people who are unwell. Therefore
there should be not obvious physical signs in relation to this and the
management will just be 0.9% saline to replace normal losses.

Hyponatraemia is noticed when NaCl drops <130 and produces mainly
neurological signs. These include headaches, nausea, vomiting, lethargy,
irritability, hyporeflexia, decreased consciousness, seizures and dry
inelastic skin. Normally 0.9% saline with 5% dextrose is given to help
draw water back into the intravascular space (that left due to the low
salt) and then U&Es are measured every 4-6 hours.

Hypernatraemia may present with jittery movements, increased muscle
tone, hyperreflexia, convulsions, drowsiness or coma. Again normal 0.9%
saline with or without 5% dextrose should be given but the deficit should
be replaced over 48 hours (if possible), aiming for a fall in sodium of
<0.5mmol/L/hour. Rapid correction can lead to cerebral oedema,
convulsion and death. U&Es should be repeated every 4 hours and KCl
should be added to 500ml IV fluid after urine has been passed and
hyperkalaemia excluded.

Feeding Problems

1. Understand the importance of establishing successful feeding in the
early days in context of providing adequate nutrition and developing
adequate relationship with the main carer

Colostrum rather than milk is produced for the first few days. Colostrum
differs from mature milk in that the content of protein and
immunoglobulin is much higher. Volumes are low, but water or formula
supplement are not required while the supply of breast milk is being
established. The first breast-feed should take place as soon as possible
after birth. Subsequent, frequent suckling is beneficial as it enhances the
secretion of the hormones initiating and promoting lactation. If this is not
done then the breast will cease to produce milk and this cannot be
rectified. See the breast feeding section above for more details.

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2. Understand feeding problems may arise due to medical conditions as
well as behavioural difficulties, parental anxiety and disturbed parent-
child interaction

This is true. Medical conditions include a poor suck due to either a cleft
palate, lip or other condition which prevents an adequate seal. Later on in
life feeding can be difficult due to a whole host of behavioural problems
but in early life I am not sure what this is getting at. Parental anxiety is
often a cause for suspected feeding problems when actually everything is
going fine. This commonly occurs with parents who have had their first
child and either do not know what to expect or have not been taught the
correct technique and times to feed their child. Finally if the child-parent
relationship is disturbed then the child may receive less food for obvious
reasons.

Nutritional Support Including NGT

1. Understand that nutritional support of a child involves/requires a
multidisciplinary approach

Many disciplines are involves including a dietician

2. Know the difference between enteral and parenteral nutrition and some
available methods used in each (NGT, enterostomy, TPN)

Enteral nutrition is nutrition that is absorbed via the gut whilst parenteral
nutrition is given IV. With less mature infants, such as preterms, enteral
feeds may be needed due to a lack of suck reflex or ability.

In very sick or premature children then parenteral nutrition is required.
This is usually given through a central venous catheter inserted
peripherally but these lines can carry a risk of sepsis along with
thrombosis of major veins. Extravasation can cause skin damage if given
into a peripheral vein.

An enterostomy is where a hole is made through the abdominal wall and
into the stomach. This can then be used for enteral feeding if, for some
reason, an NG tube cannot be passed due to obstruction or malformation.
These are also preferred if feeding is needed long term, i.e. in severe
disability.

Weaning

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1. Know the timeframe when to introduce solids and how to proceed with
weaning

Solid foods are recommended to be introduced after 6 months of age,
although they are often introduced earlier as parents often consider that
their infant is hungry. It is done gradually, initially with a small quantity
of pureed fruit, root vegetables or rice. If weaning takes place before 6
months of age then wheat, eggs and fish should be avoided. Foods high in
salt and sugar should be avoided and honey should not be given until 1
year of age because of the risk of infantile botulism. After 6 months of
age breast milk becomes increasingly nutritionally inadequate as a sole
feed, as it does not provide sufficiency energy, vitamins or iron.

2. Understand that breast milk becomes increasingly nutritionally
inadequate as a sole feed after 6 months

See previous objective

Hip Screening

1. Know the hips are to be check for developmental dysplasia/congenital
dislocation as part of the newborn screening

This is explained in the MSK section

Inheritance and Genetic Screening

1. Know the main genetic principles of inheritance

Autosomal dominance, recessive, x-linked etc etc

2. Understand the aims of genetic counselling, be aware of the topics that
this needs to cover

Explained in the genetics and syndrome section

3. Be aware of the possible antenatal genetic screening practices for
trisomy 21 and its consequences (false positives and negatives)

Trisomy 21 can be screened for antenatally in a number of ways which
have previously been explained. Genetic sampling via chorionic villus or
amniocentesis can be done to assess the genetic material for trisomy 21.
Page | 392

This is a fairly conclusive test. Other tests involve antenatal ultrasound to
look for certain features but this is less diagnostic.

Health promotion and Accident Prevention

1. Understand the importance of health promotion in childhood and
adolescence for an individual

Mentioned above

2. Understand the principles of public health in relation to health
promotion and incident prevention

Mentioned above

3. Know the main areas of health promotion for children of different ages
and adolescents

Newborn birth to five book, prevention of SIDS
Baby review 14 days feeding, promoting development and home
safety
6-8 weeks nutrition, immunisation, sleep problems, passive
smoking
4 months weaning information for 6 months
7-9 months prevention of choking, scolds, burns, safety gates,
nutrition, dental care and sunburn
12-13 months dental health
2 years obesity prevention and injury prevention
3-5 years health promotion
11-16 years sexual health and promote healthy weight
16-19 sexual health, physical activity, support

Health promotion is particularly important in the adolescent age group as
this age group becomes more receptive to advice and can act on it
themselves without parental involvement. This is a crucial period as it is
when teenagers begin health-risk behaviours which can have a direct
impact on later life. The main areas for health promotion here are health-
risk behaviours (sex, drugs, alcohol, smoking), mental health, violent
behaviour, physical activity, nutrition, obesity and parent-adolescent
communication.

Looking After and Vulnerable Children

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1. Understand the need for multidisciplinary support of these children and
their families

Many services are involved in child protection

2. Know possible family/environmental risk factors for child abuse

Risk factors have previously been outlined but here they are again:
In the child failure to meet parental expectations and aspirations
e.g. wrong gender. Resulted from forced, coercive or commercial
sex
Parent/carer mental health problems, parental indifference or
intolerance or over-anxiousness, alcohol, drug abuse
In the family step parent, domestic violence, multiple closely
spaced births, social isolation or perceived lack of support, young
parental age
Environment poverty, poor housing, unsavoury neighbourhood

The Use of EEG

1. Know the indications and limitations of EEG

An EEG measures brain electrical activity through many electrodes placed
onto the scalp. It is usually indicated when epilepsy is suspected (to
diagnose the type of epilepsy or rule out this diagnosis) but can also be
used to differentiate organic conditions (e.g. encephalopathy) from
psychiatric symptoms (e.g. catatonia). It can generally be used to notice
any change in brain activity, such as a space occupying lesion, as well as
to locate brain death. EEGs can also be used in sleep studies or in surgery
to measure the level of consciousness.

Its major limitation is the poor spatial resolution that is achieved and this
is further distorted by the CSF and meninges which blur the signal. The
other significant limitation is that the results are usually useless unless an
actual event is recorded on EEG.

2. Understand the basic principles of EEG

The electrodes pick up electrical activity of the brain in the general area of
the electrode.

There are 5 main waves to know about (not sure whether we need to?)
Delta 4hz
Theta 4-8hz
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Alpha 8-13hz
Beta - >13-30hz
Gamma 30-100+hz

3. Be aware of some characteristic EEG traces (typical absence seizures,
infantile spasms

Firstly it is important to know what normal looks like:

Typical absence seizures there is a three per second spike and wave
discharge which is bilaterally synchronous during and sometimes between
attacks. More specifically there are 3hz spike and wave complexes:

Page | 395

West syndrome (infantile spasms) EEG shows hypsarrhythmia, a chaotic
pattern of high voltage slow waves and multi-focal sharp wave
discharges.

The Principles of CT/MRI/Cranial USS

1. Understand the differences in underlying physics of these investigations

I doubt this will be examined. CT is radiation, MRI uses magnetic polarity
and US uses sound waves.

2. Understand the limitations/risks and know some examples of
indications for each imaging technique

MRI does not have any real risks besides if the patient has metal in them
or if it significantly delays treatment. CT scan gives high dose radiation so
should be used with caution, especially in children. Ultrasound has no
documented risks.

MRI is much better at differentiating types of soft tissue than CT whilst a
CT scan is much better for bony structures. With MRI there is a time issue
when recording images that doesnt occur with CT but this is rarely a
problem. Ultrasound is useful as a quick and safe investigation for routine
screening or bedside testing. It can be used for checking for structural
abnormalities as well as helping guide many procedures. However the
resolution is much poorer than MRI or CT.

Cataract Screening

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1. Understand the need for early detection and treatment of congenital
cataract in terms of development of the optic pathways and visual cortex

Visual development occurs throughout first few years of life. Any
obstruction to light, especially within the critical period, will result in
minimal stimulation to that optic nerve. Since no stimulation occurs then
the fibres do not develop and vision is never gained. If this cataract is
corrected in later life then vision will never develop. Therefore it is vital to
remove these as soon as possible to prevent any permanent visual
impairment (usually checked by assessing the red reflex at the neonatal
baby check).

Effects of Chemo-/Radio-therapy

1. Know the possible short-term and long-term side-effects of
chemotherapy and radiotherapy in children and adolescents

Chemotherapy is primarily used as a curative treatment, to control
primary or metastatic disease before surgery or as an adjuvant treatment
to deal with residual disease. Radiotherapy has a role in targeting certain
tumours but this risk of damage to growth and function of normal tissue
is greater in children than in adults.

The limitation of both of these treatments is the risk of irreversible
damage to normal tissue, particularly bone marrow. Sometimes a bone
marrow transplant may be required after particularly intensive treatment.
Cancer treatment produces frequent, predictable and often severe
multisystem side-effects. These include:
Bone marrow suppression anaemia, thrombocytopenia, bleeding
and neutropenia
Immunosuppression infection
Gut mucosal damage infection and under nutrition
Nausea and vomiting under nutrition
Anorexia under nutrition
Alopecia

Supportive care is an important part of management and improvements
in this aspect of cancer care have contributed to the increased survival
rate. Due to both treatment and underlying disease the child often is
immunocompromised and at risk of serious infection. Children with fever
and neutropenia need to be admitted promptly for hospital cultures and
treatment with broad spectrum antibiotics. Important associated
infections include penumocytis jiroveci pneumonia, disseminated fungal
infection and coagulase negative staphylococcal infections. Most common
viral infections are no worse in children with cancer than in other children,
but measles and varicella zoster may have atypical presentation and can
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be life threatening. Aciclovir can be used to treat these viral infections.
During chemotherapy and for 6-12 months after there should be an
avoidance of live vaccines. After this period reimmunisation against
childhood infections is recommended.

Anaemia may require blood transfusion. Thrombocytopenia presents the
hazard of bleeding, and considerable blood product support may be
required, particularly for children with leukaemia, those undergoing
intensive therapy requiring bone marrow transplantations and in the more
intensive solid tumour protocols.

Mouth ulcers are common, painful and, when severe, can prevent a child
from eating adequately. Many chemotherapy agents are nauseating and
induce vomiting, which may only be partially prevented by the routine use
of anti-emetics. These two complications can result in significant
nutritional compromise. Chemotherapy induced gut mucosal damage also
causes diarrhoea and may predispose to gram-negative infection.

Many individual drugs have specific side effects and the extent of these is
not always predictable so patients require careful monitoring during, and
in some cases, after treatment is complete.

Some patient may be at risk of infertility as a result of their cancer
treatment. Appropriate fertility preservation techniques may involve
surgically moving a testis or ovary out of the radiotherapy field; sperm
banking; and consideration of newer techniques such as cryopreservation
of ovarian cortical tissue, although the long-term efficacy of this is still
uncertain.

We should not forget about the psychological impact that cancer and its
treatment can have on a child, as well as the whole family. Most will
benefit from counselling and practical support provided by health
professions. Help with practical issues including accommodation, finance
and travel can be useful and is an early priority.

2. Understand the importance of febrile neutropenia in oncology patients

See above signals the need for IV antibiotics and blood cultures

Palliative Care

1. Understand the concept of palliative care and the need for
multidisciplinary approach

Page | 398

When a child relapses, further treatment may be considered. A
reasonable number can still be cured and others may have a further
significant remission with good-quality life. However, for some children, a
time comes when death is inevitable and the staff and family must make
the decision to concentrate on palliative care.

Most parents prefer to care for their terminally ill child at home, but will
need practical help and emotional support. Pain control and symptom
relief are a serious source of anxiety for parents, but they can often be
achieved successfully at home. Health professionals with experience in
palliative care for children work together with the family and local
healthcare workers. After the childs death, families should be offered
continuing contact with an appropriate member of the team who looked
after their child, and be give support through their bereavement.

2. Be aware of the resources for palliative care for children

See above

Allergy Testing

1. Understand that detailed clinical history is essential in order to
diagnose allergy

This is covered in the specials guide. Various sources of allergy need to be
considered.

2. Know the available methods used to aid if diagnosis of allergy is
unclear and their differences (skin prick test, serological testing,
provocation testing)

A skin prick test is where a solution of the suspected allergens is placed
onto the skin and then a small prick (not piercing the entire skin
thickness) is made and left for 10 minutes. A significant response to any
of the allergens helps to diagnose a specific allergy.

Serological testing is used to look at the IgE found in the blood. Specific
antibodies to types of allergen can be measured and this is another
indicator of whether a patient is allergic to something.

Provocation testing is where the allergen is introduced to a patient in a
controlled environment with resuscitation equipment available. This is
used to assess the severity of a reaction as well as if the child is actually
allergic to the reported allergen.
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Oestrogen Effects on Neonates

1. Know the physiological effects of maternal oestrogen on the newborn
(vaginal discharge, Gynaecomastia, increased size of labia majora in baby
girls)

Normal Postural Variants

1. Know the normal postural variants and the ages at which they may
occur (bow legs, knock knees, flat feed, in-toeing, out-toeing, toe
walking)

Bow Legs
The normal toddler has a broad base gait. Many children evolve leg
alignment with initially a degree of bowing of the tibiae, causing the knees
to be wide apart best observed while the child is standing with the feet
together. A pathological cause of bow legs is rickets; check for the
presence of other clinical features. Severe progressive and often unilateral
bow legs is a feature of Blount disease, an uncommon conditions
predominantly seen in Afro-Caribbean children. Radiographs are
characteristics with beaking of the proximal medial tibial epiphysis.

Knock-Knees
The feet are wide apart when standing with the knees held together. It is
seen in many young children and usually resolves spontaneously

Flat Feet
Toddlers learning to walk usually have flat feet due to flatness of the
medial longitudinal arch and the presence of a fat pad which disappears
as the child gets older. An arch can usually be demonstrated on standing
on tiptoe or by passively extending the big toe. Marked flat feet are
common in hypermobility. A fixed flat foot, often painful, presenting in
older children, may indicate a congenital tarsal coalition and requires an
orthopaedic opinion. Symptomatic flat feet are often helpful with footwear
advice and, occasionally, an arch support may be required.

In-toeing and Out-toeing
There are three main causes of in-toeing:
Metatarsus varus an adduction deformity of a highly mobile
forefoot. This occurs in infants, is passively correctable, heel is held
in the normal position and no treatment is required unless it
persists over 5 years.
Medial tibial torsion at the lower leg, when the tibia is laterally
rotated less than normal in relation to the femur. This occurs in
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toddlers, may be associated with bowing of the tibiae and self
corrects within 5 years.
Persistent anteversion of the femoral neck at the hip, when the
femoral neck is twisted forward more than normal. This presents in
childhood, usually self corrects by 8 years, may be associated with
joint hypermobility, children sit between their feet with the hips
fully internally rotated (W sitting) and most do not require
treatment.
Out-toeing is uncommon but may occur in infants between 6 and 12
months of age. When bilateral it is often due to lateral rotation of the hips
and resolves spontaneously.

Toe walking
Common in younger children and may become persistent, usually from
habit; can walk normally on request. This needs to be distinguished from
mild cerebral palsy or tightness of the Achilles tendons or inflammatory
arthritis in the foot or ankle. In older boys Duchenne muscular dystrophy
should be excluded.

2. Understand that these usually do not require treatment, but specialist
assessment is needed if severe, painful, persistent or asymmetrical

Self explanatory

Refugees and Ethnic Minorities

1. Understand the possible need for additional medical and psychosocial
support of such children and families (be able to consider immunisation
status, infectious diseases, antenatal care etc)

Most of this has been covered in previous sections. Certain diseases will
need screening for if from endemic countries, certain immunisations may
be needed (e.g. TB) and there are a whole host of issues regarding
language, education and employment.

2. Appreciate the principles of public health in relation to this topic

See above

Parent and Family Mental Health Issues

1. Understand the possible impacts of parental and family mental health
issues on a childs health and development
Page | 401

This is discussed in depth in the psychiatry guide. Mental health covers a
huge range of condition which may have no effect on a child or could lead
to serious abuse. The spectrum is so wide that it is unrealistic to cover it
here.

2. Understand the vulnerability and need for multidisciplinary support of
such children and families

Self explanatory

The Family Unit

1. Understand the importance of family in terms of childrens
developmental needs

Again this is difficult to comprehensively cover. A child needs a loving
family to adequately develop (children who do not receive this may not
grow to their full potential) along with stimulation and play.

2. Understand the impact of parenting capacity as well as family
environmental factors on childs health and development

There are many environmental factors that play a part in development.
These include but are not limited to socio-economic status, employment,
area of housing, quality of housing, siblings, pets, ethnicity, smoking,
drugs etc.

The Use of Muscle Biopsy

1. Understand the principle of muscle biopsy and its relevance in
diagnoses of myopathy and/or tumours of the muscle tissue

A muscle biopsy can be diagnostically useful in many situations when the
muscle architecture is disrupted or altered. This is particularly relevant in
myopathies, muscular dystrophies and muscular cancers. A hollow needle
is generally used (can be done as an open procedure) and is inserted into
the muscle where a biopsy is then taken. If a specific site is needed then
ultrasound guidance may be helpful. This can be carried out under a
general anaesthetic and pain relief is given for afterwards.

CNS Anatomy
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1. Have a general knowledge and understanding of the anatomical
structures of CNS and their function

The relevant anatomy has been described with each condition where
applicable. Neurology should have been covered in CP1 and is too vast to
cover here. I assume the important features will be the locations of
haemorrhage, the ventricular arrangement and causes of CSF
increase/decrease and the spinal anatomy regarding UMN and LMN
lesions.

Principles of Audit, Research and Evidence Based Medicine as it Applies to
Child Health

1. Understand the general principles of evidence based medicine and its
relevance to clinical practice

Weve been taught this enough already.

2. Understand the importance of audit in the field of child health

Audits are useful in assessing current techniques and treatments and then
seeing if improvement can be made.

History

Age, gender, full name

Presenting complaint and its history
What prompted the referral and from where (i.e. GP, A&E)
onset,
duration,
previous episodes,
what relieves it/aggravates it,
time course of problem,
is it getting worse/better/the same,
are there associated symptoms,
what has been done so far
fears and concerns

General enquiry
General healthy
Normal growth
Pubertal development
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Feeding/drinking/appetite
Recent changes is behaviour or personality

Systems review
General rashes or fever
Respiratory cough, wheeze, breathing problems
ENT throat infections, snoring, noisy breathing
Cardiovascular heart murmur, cyanosis, exercise tolerance
GI vomiting, diarrhoea, constipation, abdominal pain
Genitourinary dysuria, frequency, wetting, toilet-trained
Neurological seizures, headaches, abnormal movements
Musculoskeletal disturbance of gait, limb pain or swelling, other
functional abnormalities

Past medical history
Maternal obstetric problems, delivery, prolonged rupture of
membranes, group B streptococcus status, maternal pyrexia
Birth weight and gestation
Perinatal problems, whether admitted to special care baby unit,
jaundice etc
Immunisations
Past illness, hospital admissions and operations, accidents and
injuries

Drug history
Medications why, dose etc
Known allergies to drugs and other things e.g. food

Family history
Have family members or friends had similar problems or any serious
disorder
Any neonatal or childhood deaths
Draw a family tree
Is there consanguinity

Social history
Parental occupation, economic status, housing, relationships,
parental smoking, marital stress
Is the child happy at home? What does the child prefer to do
Is the child happy at school and are they doing well
Is there a social worker involved
How has this illness affected the child and family

Development
Vision and hearing by parental report
Key milestones
Previous child health surveillance developmental checks
Page | 404

Bladder and bowel control
Temperament and behaviour
Sleeping problems
Progress at school/nursery

Examination

Peripheral examination:
Cyanosis extremities or around the lips
Clubbing sign of chronic lung disease or cyanotic congenital heart
disease
Nail changes pitting (psoriasis), splinter haemorrhages, dirt
Eyes sclera for jaundice, conjunctiva for anaemia
Tongue/mouth central cyanosis, beefy tongue (glossitis) (B12
deficiency), angular cheilitis (iron deficiency, celiac disease), ulcers
(crohns/UC)
Teeth general dentition, bone deformities
Fontanelle depends on age but a good check for ICP and
hydration
General appearance dysmorphic features

Pulse:
Rate
Rhythm sinus arrhythmia
Volume small in circulatory insufficiency or aortic stenosis,
increased in high-output states, collapsing in patent ductus
arteriosus and aortic regurgitation

Temperature

Capillary refill time (<2 seconds)

Weight and height and head circumference

Blood pressure

PEFR (if over 4 to 5 years)

Respiratory rate

Respiratory specific parts

Dyspnoea:
Nasal flaring
Expiratory grunting
Use of accessory muscles, especially sternomastoids
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Recession of the chest wall from use of suprasternal, intercostal and
subcostal muscles
Difficulty speaking or feeding

Chest shape:
Hyper-expansion or barrel shape
Pectus excavatum (hollow chest) or pectus carinatum (pigeon
chest)
Harrisons sulcus
Asymmetry of chest movements

Palpation:
Chest expansion 3-5cm in school aged children
Trachea done selectively as seldom useful
Location of apex beat to detect mediastinal shift
Locate liver edge and border to check for hyper-expansion

Percussion:
Compare like with like
Rarely useful in infants
Localised dullness: collapse, consolidation, fluid

Auscultation:
Breathing sounds and added sounds
Harsh breath sounds from the upper airways are readily transmitted
to the upper chest in infants
Hoarse voice vocal cord problem
Stridor harsh, low-pitched, mainly inspiratory sound from upper
airway obstruction
Breathing sounds vesicular or bronchial (higher pitched and the
length of inspiration and expiration are equal)
Wheeze high pitched sound during expiration
Crackles discontinuous moist sounds from the opening of
bronchioles

Bedside tests:
Saturation monitor
Observations

Cardiovascular specific parts

Inspection:
Respiratory distress
Precordial bulge causes by cardiac enlargement
Ventricular impulse visible if thin, hyperdynamic circulation or left
ventricular hypertrophy
Operative scars mostly sternotomy or left lateral thoracotomy
Page | 406

Palpation:
Thrill palpable murmur
Apex (4
th
-5
th
intercostal space, mid-clavicular line) not palpable in
some normal infants, plump children or dextrocardia, heave from
left ventricular hypertrophy
Right ventricular heave at LLSE due to right ventricular hypertrophy

Percussion:
Rarely useful

Auscultation:
Heart sounds
Murmurs timing (systolic, diastolic, continuous), duration (mid-
systolic, pansystolic, ejection systolic)
Loudness systolic murmurs are graded 1-2 for soft, 3 is easily
audible with no thrill, 4-6 is loud with thrill
Site of maximal intensity (mitral, tricuspid, pulmonary, aortic)
Radiation to neck in aortic stenosis, to back in coarctation of the
aorta or pulmonary stenosis
Listen for lung bases to exclude heart failure

Hepatomegaly:
An important sign of heart failure. An infants liver is normally
palpable 1-2cm below the costal margin.

Femoral pulses in coarctation:
Decreased volume or may be impalpable in infants so try foot
pulses
Brachiofemoral delay in older children

Bedside tests:
Blood pressure
Saturations
ECG

Abdominal specific parts

The patient must be relaxed to adequately examine the abdomen. If there
is generalised distension then it is most often explained by the five Fs
(fat, fluid, faeces, flatus and fetus (age dependent obviously)).
Occasionally it may also be caused by a grossly enlarged liver and/or
spleen or muscle hypotonia. Causes of local distension are: gastric
dilatation from pyloric stenosis and hepato/splenomegaly (both upper
abdomen), distended bladder and masses (last two from lower abdomen).

Page | 407

Other signs include dilated veins in liver disease, abdominal striae,
operative scars and peristalsis. Are the buttocks normally rounded or
wasted as in malabsorption.

Palpation:
Ask if it hurts
Palpate in a systematic fashion liver spleen, kidneys, bladder and
all four abdominal quadrants
Ask about tenderness, watch the childs face when palpating

Tenderness:
Location localised i.e. appendicitis, hepatitis and pyelonephritis; or
generalised in mesenteric adenitis and peritonitis
Guarding pain on coughing, moving about, bumps in a car journey
causing pain. Jumping on the spot can be incorporate into play to
check for tenderness.

Hepatomegaly:
Palpate from right iliac fossa
Locate edge with finger tips which may be soft or firm
Unable to get above it
Moves with respiration

Splenomegaly:
Palpate from right iliac fossa, edge is usually soft,
Unable to get above it
Notch occasionally palpable if markedly enlarged
Moves on respiration
A palpable spleen is at least twice its normal size

Kidney:
Not usually palpable beyond the neonatal period unless abdominal
muscles are hypotonic
Palpate by balloting bimanually
They move on respiration
One can get above them

Abnormal masses:
Wilms tumour renal mass that does not cross midline
Neuroblastoma irregular firm mass which can cross midline and
child is generally very unwell
Faecal masses mobile and non-tender
Intussusception acutely unwell, mass may be palpable, most often
in RUQ

Percussion:
Liver, spleen and for ascites (shifting dullness)
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Auscultation:
Increased bowel sounds indicate intestinal obstruction and acute
diarrhoea
Reduce or absent bowel sounds indicate paralytic ileus and
peritonitis

Other examinations:
Genitalia
Rectal
Urinalysis

Neurological exam

CNS cranial nerves
Before the age of four years you need to use some ingenuity to test for
abnormal or asymmetric signs make it a game and ask them to mimic
you

1 not done routinely
2 visual acuity direct and consensual pupillary light reflex,
accommodation, visual fields if older
3, 4, 6 full eye movement through horizontal and vertical planes.
Is there a squint. Nystagmus can normally be induced at an
extreme lateral gaze
5 clench teeth, waggle jaw
7 close eyes tight, smile, show teeth
8 hearing ask parents although unilateral deafness can be
missed
9 levator palate saying aagh and looking for uvula deviation
10 recurrent laryngeal listened for hoarseness and stridor
11 trapezius and sternomastoid power shrug shoulders and turn
head
12 put out tongue and look for atrophy or deviation

PNS

Inspection of limbs:
Muscle bulk
Wasting may be secondary to cerebral palsy, meningomyelocele,
muscular disorder or from previous poliomyelitis
Increased bulk of calf muscles may indicate DMD or myotonic
conditions

Muscle tone:
Tone in limbs
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Best assessed by taking the weight of the entire limb and bending
and extending it around a single joint. Assess resistance to passive
movement as well as a full range of movements
Increased tone (spasticity) in adductors and internal rotators of the
hips, clonus at the ankle or increased tone on pronation of the
forearms at rest is usually the result of pyramidal dysfunction. This
can be differentiated from extrapyramidal conditions which, if
accompanies by a tremor, may be termed cog wheel rigidity.
The posture of limbs may give a clue as to the underlying tone e.g.
scissoring of the legs, pronated forearms, fisting and extended legs
all suggest increased tone. Sitting in a frog like posture of the legs
suggests hypotonia, while abnormal posturing and extension
suggests fluctuating tone (dystonia)

Truncal tone
In extrapyramidal tract disorders the trunk and head tend to arch
backwards
In muscle disease and some central brain disorders the trunk may
be hypotonic. The child is floppy to handle and cannot support the
trunk in sitting

Head lag
This is best tested by pulling the child up by the arms from the
supine position

Power
This is difficult to test in babies. Watch for antigravity movements and
note motor function. Both will tell you a lot about power. From 6 months
onwards watch the pattern of mobility and gait. Watch the child standing
up from lying and climbing stairs. From the age of 4 years, power can be
tested formally against gravity and resistance, first testing proximal
muscle and then distal muscle power and comparing sides

Reflexes
Test with the child in a relaxed position and explain what you are going to
do. Brisk reflexes may indicate anxiety in the child or a pyramidal
disorder. Absent reflexes may be due to a neuromuscular problem or a
lesion within the spinal cord, but may also be due to inexpert examination
technique. Children can reinforce reflexes if asked

Plantar responses
In children the responses are often equivocal and unpopular as it is
unpleasant. They are unreliable under 1 year of age. Up going plantar
responses provide additional evidence of pyramidal dysfunction.

Sensation
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Testing the ability to withdraw from tickle is usually adequate as a
screening test. If loss of sensation is likely then more detailed assessment
is requires as performed in an adult. In spinal and cauda equine lesions
there may be a palpable bladder or absent perineal sensation.

Coordination
Depends on the age but includes doing up buttons and building
bricks
Hold out arms and close eyes and then observe for drift or tremor
Finger nose testing
Rapid alternate movements of hands and fingers
Touching tip of each finger in turn with thumb
Asking the child to walk heel-toe, jump and hop

Movements
Observe walking as the pattern of gait can say a lot and an abnormal gait
may be due to a neurological, skeletal or muscular condition. Walking on
heels/toes/inverted feet can emphasise any abnormal gait. Observe from
lying down to standing as children <3 turn prone to stand but beyond this
age it indicated weakness. Climbing up their own legs with their arms to
become standing is called Gowers sign.

pGALS

Screening questions:
Do you (or your child) have any pain or stiffness in your joints,
muscles or your back?
Do you (or your child) have any difficulty getting yourself dressed
without any help
Do you (or your child) have any difficulty going up and down stairs

Posture and gait:
Observe standing from the front, side and back. Observe walking
normally, on tip-toes and on heels

Arms:
Put hands out straight in front of you, turn your hands over and make a
fist, pinch your index finger and thumb together, touch the tips of your
fingers with your thumb in turn, squeeze the patients
metacarpophalangeal joints for tenderness. Put your hands together palm
to palm and then hands back to back, reach up and touch the sky, look at
the ceiling, put your hands behind your neck.

Legs:
Feel for effusion at the knee, bend and straighten your knee then do
passively, passive movements of the hip

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Temporomandibular joint:
Open your mouth and put three fingers in your mouth

Neck and spine:
Touch your shoulder with your ear, observe lateral flexion of the cervical
spine, bend forward and touch your toes, observe curve of the spine.

Regional musculoskeletal exam

Look:
For discomfort
Skin abnormalities
Limb alignment length, muscle bulk and asymmetry
Bony deformity soft tissue, joint swelling, muscle changes

Feel:
Each joint, long bones and neighbouring tissue
Palpate along each bone and joint lines for tenderness
Feel for warmth
Delineate bony or soft tissue swellings
Check for joint effusion, most readily at the knee

Move:
Active movement first
Observe for discomfort, symmetry and range of movements
Passively move the joint
Lateral and rotational movements as well as flexion and extension

Function:
For lower limb joints check gait
For small joints such as hands then check grip

Don't forget to do an ENT examination quick and easy

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Otorhinolaryngology

Vertigo

1) The student will be able to demonstrate an understanding and
management of:

Vestibular neuronitis Inflammation of the vestibular portion of the
8
th
nerve leads to vertigo with similar symptoms to Labyrinthitis.
The major cause of this is thought to be viral infection and the
hearing is usually not affected. Resolution gradually occurs over a
period of weeks with slow compensation. Treatment is the same as
Labyrinthitis and consists of vestibular sedatives and rest. The 8
th

nerve can be affected by disease at any point on its way from the
cochlear and this can lead to hearing loss, vertigo and/or tinnitus.

Labyrinthitis this is an acute inflammation of the inner ear which
usually follows a simple upper respiratory infection. However,
infection can also spread from a middle ear infection, intracranial
sepsis or via the blood stream. Vertigo is the main symptoms here
and can be disabling. It can last for several days to weeks before
beginning to settle. There may also be some residual vertigo
occurring with rapid movements for some months after the initial
episode. If severe then hearing loss can occur and may even lead to
total vestibular destruction (dead labyrinth).
Treatment is with antibiotics, vestibular sedatives and rest.
Generally there is gradual labyrinthine compensation and this
process of rehabilitation may be aided with special Cooksey-
Cawthorne exercises.

Benign paroxysmal positional vertigo (BPPV) This is a condition
characterised by episodic vertigo which occurs when the head is
moved in a certain position, classically by turning in bed or looking
up at an object. Each episode usually only lasts for a few minutes
but can remain for hours. Episodes may occur for weeks or months
before slowly settling. It can occur at any age and is probably one
of the most common causes of vertigo.
Diagnosis is clinical (Hallpike Manoeuvre sitting up to lying down
and tilting head down 30 degrees quickly). Nystagmus along with
vertigo symptoms can be observed. The nystagmus is rotary
Page | 414

towards the underlying affected ear and has a latent period before
starting. It then fatigues (slowly settles) and shows adaptation
(lessens with consecutive tests).
BPPV is thought to be due to dislodged otoliths settling in the
posterior semicircular canal and causing irritation with particular
movements. Treatment is to reassure patients that the condition
will settle. Several sets of head movements may be helpful in
speeding up the process (Epsleys manoeuvre or cooksey-cawthorne
exercises). Vestibular sedatives should be avoided as they will slow
the compensation process. Very rarely surgery on the posterior
semicircular canal is needed.

Presbystasis (aka disequilibrium) A momentary feeling of
unsteadiness, particularly in elderly people. These symptoms are
thought to be due to small vessel disease in the brain. It is usually
self limiting and may improve but there are no satisfactory medical
treatments for this. There is no associated nausea or vomiting.

Vestibular migraine This is basically a migraine with vestibular
symptoms. Dizziness may occur before, during or after the migraine
and this will vary depending if there is an aura or not. These
symptoms usually last for 5-20 minutes. This is a diagnosis of
exclusion and other problems such as BPPV should first be
excluded. In basilar migraines there may also be ataxia, hearing
loss and tinnitus. However auditory symptoms are generally rare.
Diagnostic criteria include episodic vestibular symptoms, current or
previous migraines, exclusion of all other causes and migraine
symptoms during an attack of vertigo on at least two separate
occasions.
Treatment is the same as for treatment of migraines in general

2) The student should be able to demonstrate an understanding of and
differentiate between vertigo originating within the inner ear and
vestibular nerve, or originating in the central nervous system, and
presyncopal symptoms originating in the cardiovascular system.

Dizziness is a non-specific term encompassing many sensations e.g.
vertigo, disequilibrium, light-headedness, ataxia, diplopia or even a
psychological dissociative feeling. It is a symptom of many disorders and
diseases and requires an especially thorough history in order to make a
differential diagnosis. The first task is to determine which of the three
types of dizziness the patient has.

The causes of dizziness can be divided into three major groups:

CENTRAL
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That is from vestibular nuclei, brainstem and upwards, can be of a
central nervous system or cardiovascular origin (probably small
vessel disease).

A feeling of momentary disequilibrium or tending to veer when
walking is a common symptom in the over 60s. This is thought to
be Ischaemic in origin and due to small vessel disease in the brain.
It has been equated with presbyacusis and called presbystasis.

Examples of central disease include space occupying lesions,
degenerative diseases, post-trauma, intoxication and vascular
processes.

Presentation is extremely varied but usually includes ataxia,
unsteadiness, a gradual feeling of being off balance, rarely: nausea,
vomiting, hearing loss or tinnitus. There should be other symptoms
and signs of cerebella or brainstem lesions or other signs and
symptoms of a central lesion

CARDIOVASCULAR
Feelings of faintness; weak at the knees. General syncopal
symptoms and are not uncommon in the over 60s. They may be
associated with, hypertension (or its therapy), cardiac arrhythmia's,
vasovagal attacks.

Common causes include postural hypotension, hypertension,
arrhythmias, vasovagal, drugs or hyperventilation.

Presentation includes syncope, light-headedness, faints,
unsteadiness etc

PERIPHERAL
That is the labyrinth (semicircular canals, the saccule and
utricle) and the vestibular nerve.

These are characterised by sudden episodes of vertigo, almost
always associated with nausea and vomiting. Hearing loss and
tinnitus may be present and hence point towards a cochlear
problem. Duration and presence or absence of hearing loss are
clues towards diagnosis. Causes include BPPV, Menieres disease
(triad of vertigo, tinnitus and hearing loss), vestibular neuronitis,
drugs etc.

3) The student should understand the clinical significance of nystagmus
and how to test for it.
Page | 416

Nystagmus is an involuntary conjugated rhythmic to and fro movement of
the eyes and is a clinical sign of vestibular abnormality. Peripheral
vestibular nystagmus can be rotary or horizontal whilst vertical
nystagmus or nystagmus that changes direction is always a sign of a
central lesion.

If the lesion destroys the labyrinth then the nystagmus is always away
from the damaged ear, if it is an irritative lesion then towards the affected
ear. A cerebellar lesion results in a nystagmus to the ipsilateral side and
therefore the direction cannot be used to localise a lesion.

There are three degrees of nystagmus:
The example is a sudden total vestibular failure in the right ear
3
rd
: nystagmus when looking left, right and straight ahead
2
nd
: when looking left and straight ahead
1
st
: when looking left

Chronic nystagmus will gradually resolve due to compensation but can
still be elicited if optic inputs are abolished (using Frenzels glasses).

There is a 5 minute video on the NLE which demonstrates these
techniques. The main components are checking the range of eye
movements using the shape of the letter H for the patient to follow with
their eyes whilst keeping their head still. The second is the Hallpike
manoeuvre to try to elicit nystagmus. After setting the patient up you
should immediately hold your finger about 60cm away from their face and
get them to focus on that point to assess for nystagmus.

4) The student should know the basic management of the above causes
of vertigo

Management of the above conditions has already been mentioned but it
also worth talking about Menieres disease.

Menieres disease tends to be over diagnosed. The typical history is a
middle aged person (aged 35-55) presenting with a classic triad of
symptoms:
Recurrent attacks of vertigo lasting from 10 minutes to 24 hours
Tinnitus
Fluctuating but deteriorating sensorineural hearing loss
The vertigo is often very acute in onset and can be disabling. Nausea and
vomiting may also occur along with nystagmus. After an attack a patient
may feel a bit off balance for a few days. Sensorineural hearing loss
initially affects the lower frequencies. Tinnitus or a feeling of fullness in
the ear may be felt just before an attack.
Page | 417

The condition is usually unilateral but may become bilateral with
progression. Sensorineural hearing loss is initially recoverable but
becomes permanent with recurrence. These attacks can occur in sporadic
bursts or may only occur very occasionally.

The cause is thought to be a distension of the membranous labyrinth but
the aetiology is still unknown.

The diagnosis is strongly suggested by the clinical history but it is
important to exclude other causes of vertigo such as epilepsy, MS,
tumours and vascular disease as well as Labyrinthitis and BPPV.

Treatment consists of vestibular sedative acutely. In the long term
betahistine (a vasodilator), diuretics and avoidance of caffeine and salt,
along with reassurance, can reduce the number of attacks and increase
coping.

If the condition becomes debilitating then surgery may be considered.
This can range from decompressing the endolymphatic sac to destroying
the labyrinth or cutting the 8
th
nerve.

Otology

1) The student should be able to examine the pinna, external auditory
meatus and ear drum, demonstrating knowledge of the normal anatomy.

2) The student should be able to recognise abnormal anatomy, signs of
ulceration, inflammation, infection, discolouration of the tympanic
membrane or perforation.

I will use this section to talk about problems with the external ear.

Otitis Externa This can be acute or chronic and is a common
generalised inflammation of the external acoustic meatus (EAM).
The causes are often multifactorial and general skin conditions such
as eczema can predispose to infection. Local factors such as trauma
can also initiate this condition. The end result is a swollen and
narrowed EAM which is itchy and often acutely tender.

Typical symptoms include ache or pain, otorrhoea and hearing loss
due to narrowing of the EAM. The inflammation can spread to the
auricle or surrounding facial tissue (causing facial oedema).

On examination the tragus is tender on movement and there maybe
some tenderness behind the ear. The skin may crack and crust
Page | 418

which increases the likelihood of a fungal infection occurring.
Chronically the skin may become thickened or fissured and
permanently moist.

Treatment consists of an aural toilet (basically washing out the ear)
and local medication such as antibiotics or steroid ear drops.
Antifungal agents and things such as glycerine (to withdraw
moisture) can be used. Systemic antibiotics can be used if the
condition is severe. When the problems begin to clear it is important
to check for a middle ear infection as this is a common cause of
otitis externa.

Malignant otitis externa is a more aggressive form of otitis externa,
usually seen in the elderly and diabetics. The causative organism is
pseudomonas which spreads to the bone and causes osteomyelitis
of the skull base. This can damage the facial nerve and those
exiting through the jugular foramen (9, 10 and 11). This condition
can be fatal and treatment needs to be prompt with high dose IV
antibiotics and sometimes surgical debridement.

Blunt trauma is important to consider as this can lead to a
haematoma. This blood clot, if not drained, can cause dense
scarring and thickening of the ear. If infection occurs then necrosis
of the cartilage and gross deformity may follow.

3) The student should be able to perform and interpret Rinnes and Weber
tuning fork tests, the common audiometric patterns on pure tone
audiometry and tympanometry.

When using tuning forks it is important to use the correct frequency for
hearing (512Hz). Rinnes and Weber tests help us to determine whether a
hear loss is uni or bilateral and whether it is conductive, sensorineural or
mixed.

Webers test here the tuning fork is placed on the patients forehead,
nasal bridge or upper teeth (not dentures!) and the patient is asked
where sound is heard best. Results can be as follows:
Unilateral or asymmetrical hearing loss
- Conductive type = localizes to the affected (worse hearing) ear
- Sensorineural type = localizes to non-affected (better hearing) ear
Bilateral or symmetrical loss of either type where the sound is heard
equally in both ears. This can also show hearing is normal.

Rinnes test This is to determine if sound is heard best through air
conduction or bone conduction. The tuning fork is held next to the ear for
a few second and then placed behind the ear on the mastoid process. The
Page | 419

patient is then asked which they can hear better. The results can be
summarised as follows:
Rinne positive (AC>BC) = normal response or the response for
sensorineural hearing loss
Rinne negative (BC>AC) = A conductive hearing loss in the test ear
Rinne false negative = if the test ear has profound sensorineural
hearing loss then the opposite ear may pick up some of the sound
and give a false picture of conductive loss. Here a masking noise
should be used.

Pure tone audiograms are the most commonly performed hearing test and
help determine a patients hearing threshold. Tones are played through a
set of headphones (one ear at a time with the other ear receiving white
noise) at varying volumes and the patient is asked to respond when they
hear a noise. Sound can also be delivered by a bone vibrating device to
assess bone conduction. In the left ear air conduction is labelled x and
bone conduction ] whilst in the right ear air conduction is O and bone
conduction [.
A normal picture is all frequencies between 0 and 20 db. A dip around
4000Hz indicates a noise induced loss whilst a progressive decline
>4000Hz shows a sensorineural hearing loss associated with age.

Tympanometry (ask impedance audiometry) measures the
compliance/stiffness of the eardrum. The probe is inserted into the ear
and has three channels; a speaker, a microphone and a device to vary
pressure. Maximal sound energy passes through the ear drum when the
pressure in the ear canal is the same as the middle ear and hence a peak
should be seen on the graph at 0. A negative middle ear pressure forces
the graph to the left and fluid in the middle ear gives a flat trace. An
excessively tall peak can indicated a hyper mobile drum such as in
ossicular discontinuity.

4) The student will be able to understand the basic pathophysiology,
diagnosis and management of:

Presbyacusis A degenerative disorder and term used to describe
the loss of hearing in old age. It is characterised with gradual
hearing loss in both ears with or without tinnitus. Such a hearing
loss usually affects the higher frequencies and gives a classical
audiogram picture. There is no cure but a hearing aid can help by
amplifying sound and masking the tinnitus. Atrophy of the labyrinth
and cochlear nerve fibres cause this condition.

Cholesteatoma This is a cyst or sac of keratinizing squamous
epithelium (skin) and most commonly occurs in the attic or
epitympanic part of the middle ear. This will frequently cause a
Page | 420

chronic foul smell discharge and, as a result, it is classified as a
subtype of CSOM (chronic suppurative otitis media).

Signs and symptoms include the foul smelling discharge, a
conductive hearing loss, an attic retraction filled with squamous
debris, a discharging attic perforation and attic aural polyps.
Patients may also present solely with a complication of
Cholesteatoma such as facial palsy, vertigo and intracranial sepsis.

Aetiology is unknown but it is not thought to be congenital. The
most common theory is that a negative pressure in the middle ear
has its maximal effect on the pars flaccida of the tympanic
membrane. This causes it to balloon backwards forming a retraction
pocket and trapping the outer layer of epithelium. This ball of
squamous debris slowly enlarges and invariably becomes infected
with pseudomonas. It tends to grow upwards into the attic region
and backwards into the mastoid.

This condition is able to erode bone and so all important structures
in or around the middle ear and mastoid are at risk. These include
the ossicles, the facial nerve, the labyrinth and the roof of the
middle ear (causing intracranial sepsis).

Treatment is surgical removal but the operation required depends
upon the extent of the disease.

Glue ear (otitis media with effusion) Before going into this specific
type of otitis media it is worth having an overview of the condition.
Otitis media is an inflammation of the middle ear characterised by
the formation of an effusion which can be sterile (as in glue ear) or
suppurative (as in acute otitis media). Repeated attacks can lead to
weaking of the ear drum and eventually a perforation which is non-
healing. This is now chronic suppurative otitis media (CSOM).

Acute (suppurative?) otitis media is common in children and is
usually associated with an infection of the upper respiratory tract
which spreads to the middle ear via the eustachian tube. An
accumulation of pus in the middle ear leads to pressure on the
tympanic membrane and hence pain. Rupture of the membrane
leads to otorrhoea and a rapid reduction in otalgia. Other symptoms
include hearing loss (conductive), pain, otorrhoea, pyrexia and
systemic upset.

Treatment is with antibiotics and simple analgesia. If a perforation
occurs then the ear must be kept dry until it has healed. In a
discharging ear the use of antibiotic and steroid ear drops can help.
Nasal decongestants may help speed up recovery.
Page | 421

Otitis media with effusion (glue ear) This is basically a secretory
otitis media and the underlying basis is poor ventilation of the
middle ear cavity which leads to sterile (non-purulent) and often
thick and sticky effusion. Possible causes include a sequelae of
acute otitis media, infection or allergy of the middle ear mucosa or
eustachian tube dysfunction.

Glue ear affects 70-80% of children at some point in their lives and
mostly resolves spontaneously. In a small but significant number it
may last months or years. It usually leads to a mild hearing loss of
between 20-30dB and in the long term this can disrupt the childs
behaviour, development and schooling. A chronic effusion also
predisposes to repeat attacks of acute otitis media as a result of
infection spreading from the eustachian tube.

If it does not resolve over 3 months and if it is symptomatic then
treatment may be required. Currently the treatment consists of the
insertion of grommets although hearing aids are an alternative.
These are usually only needed for a few years as children tend to
grow out of this.

Chronic suppurative otitis media (CSOM) prolonged and repeated
bouts of otitis media in childhood can cause damage to the
tympanic membrane and a non-healing perforation may occur.
Symptoms can include hearing loss and otorrhoea. The hearing loss
is usually 10-20dB if the tympanic membrane is involved but this
can be up to 50-70dB if the ossicles are disrupted.

Treatment here is regular aural toileting and a combination of
antibiotic and steroid ear drops. Surgical repair of the ear drum may
also be necessary.

Otosclerosis This is a disease of the otic capsule or bony labyrinth
and causes hearing loss. The hard, compact bone of the labyrinth is
replaced by patches of spongy bone. This abnormal bone is thought
to produce toxins which can affect the cochlear and cause
sensorineural hearing loss. However, more commonly the bony
overgrowth affects the footplate of the stapes which results in its
fixation and leads to conductive hearing loss.

Aetiology is unknown but risks are high if a family member suffers
from this. It is thought that up to 1/100 people have this condition
but only a minor proportion of people are symptomatic.

The hearing loss is bilateral and begins at around the age of 30 with
symptoms being worse during pregnancy for women. An unusual
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symptom called paracusis willsii (hearing better with background
noise) can occur in these patients. Tinnitus and positional vertigo
can also be additional problems.

This diagnosis should be considered in patients who present with a
conductive hearing loss and a normal ear drum. The only way to
conclusively diagnose this is by surgical examination of the stapes
footplate with the most common problem being adhesion/fixation.

Treatment can be simply observation if mild or a hearing aid if
symptomatic. A large conductive loss can be treated by replacing
the stapes with a Teflon piston and this can give dramatic results.

Noise induced hearing loss A loud auditory stimulus can cause a
mild hearing loss and tinnitus that quickly resolves. Repeated
traumas of this type can cause permanent symptoms. A similar
acoustic trauma can also arise from a very loud noise such as an
explosion. Sensorineural hearing loss is most common but
conductive loss should also be considered due to tympanic
membrane rupture or middle ear damage.

In noise induced hearing loss tinnitus is often a prominent feature
and the audiogram has a classical appearance with the dip at 4kHz.
The treatment is essentially supportive with tinnitus counselling and
provision of a hearing aid where possible so prevention is most
important.

Obscure auditory dysfunction

Tinnitus This can exist with a hearing loss due to any cause but
may occur even with normal hearing. However it is most often a
feature of sensorineural loss. Most people will experience tinnitus at
some point in their life and it is mostly transient and a minor
problem. However in the long term it may trigger depression and
even suicide. The noise heard by the patient is termed intrinsic as it
is not heard by anyone else. Extrinsic tinnitus is indicative of a
vascular origin such as a vascular bruit.

Intrinsic causes include drugs, Labyrinthitis, trauma, vascular,
presbyacusis, Menieres disease, noise induced, otosclerosis,
idiopathic, temporal lobe epilepsy or 8
th
nerve tumours.

Facial nerve Neurological disease can both present with and cause
otological symptoms. For example meningitis can cause profound
deafness, especially in children. Vascular occlusion of the brainstem
can lead to vertigo or hearing loss and MS can present with vertigo
or facial nerve weakness. Therefore these should be considered
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when there are unilateral otological symptoms and hence a
neurological examination is indicated.

The facial nerve is a motor nerve supplying the muscles of the face
with its nuclear situated in the pons and emerging in the
cerebellopontine angle (CPA). It is associated with the nervus
intermedius which carries secretory motor fibres to the salivary
glands of the head and neck (not parotid) from the superior salivary
nucleus. The nerve also carries taste fibres from the anterior part of
the tongue. The facial nerve enters the internal auditory meatus
with the 8
th
nerve (vestibulocochlear) and travels through the
petrous temporal bone to emerge on the medial surface of the
middle ear. Here it turns posteriorly and then inferiorly to travel
through the mastoid bone and exit the skull at the stylomastoid
foramen.

Facial nerve palsy Any process that disrupts the nerve fibres of
the facial nerve will result in a partial or total weakness of the facial
muscles. UMN lesions are caused by damage above the level of the
facial nucleus (motor cortex/pons) and are distinguished from LMN
lesions by the sparing of the forehead muscle which receives
innervation from the contralateral motor cortex as well. A LMN palsy
causes total facial weakness.

Bells Palsy This is a viral infection that involves the 7
th
nerve and
is possibly the most common cause of facial weakness (80%). It
presents with facial palsy of sudden onset and is often preceded by
an URTI. Increased pressure on the nerve due to swelling in its tight
bony canal is thought to cause the dysfunction. If the patient
presents within the first 48 hours then high dose oral steroid should
be considered. The majority of cases completely resolve but some
patients are left with residual facial weakness.

Trauma Temporal bone fractures are the biggest problem with
trauma and tend to be longitudinal (80-90%) or transverse (10-
20%). Transverse pose the biggest risk to both the facial nerve and
to sensorineural hearing loss. The facial nerve is also at risk during
surgery on the middle ear, mastoid and parotid gland so the
integrity of this nerve must be check postoperatively.

Infection This may damage the nerve in the middle ear or more
proximally. Treatment is by antibiotics and decongestants and
occasionally a myringotomy to release the pus. It is important to
exclude Cholesteatoma and malignant otitis externa here as they
can both cause 7
th
nerve damage.

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Ramsay Hunt syndrome Herpes zoster virus causes this and it is
characterised by a facial palsy, usually associated with facial pain
and the appearance of vesicles on the ear drum, canal and pinna.
Vertigo and deafness may also occur. Treatment is with acyclovir
and is usually only effective if given early. The palsy is usually
severe and often does not recover.

Intracranial causes these include cerebral ischemia, MS, CPA
lesions and other neurological disorders.

Facial nerve tumours tumours of the facial nerve itself are rare
but the nerve can be involved with a tumour anywhere along its
course. Such sites include the parotid, CPA, external or middle ear,
and petrous bone.

Rhinology

1) The student should be able to examine the external nose.

2) The student should be able to examine the internal nose.

3) The student should be able to examine the nasal airway.

4) The student will be able to demonstrate knowledge of:

Nasal anatomy a brief overview. The nose can be divided into
several sections to make up this individual unit. These include the
external nose, the nasal vestibule and valve, the septum, the lateral
nasal walls and the nasopharynx (or post nasal space PNS). The
nose not only serves to help with respiration but also acts to warm
and humidify the air we breathe. Stiff hairs on the vestibule help
block large particles enter the nose whilst smaller particles are
degraded by enzymatic destruction by the epithelium. It is also
important to recognise that olfaction gives 85% of what we call
taste so someone reporting a poor sense of taste may actually have
a poor sense of smell.

The external nose the upper third is made of bone attached to the
frontal bone and the lower two thirds are cartilaginous. The
cartilage is then divided into the upper and lower lateral cartilages
as well as the alar cartilage that sits behind the lower. This skeleton
is covered in skin which is thin at the nasal bridge and thicker over
the tip.

Vestibule and valve the vestibule is basically the nasal entrance
and it is enclosed by the alar cartilages. The skin here bears stiff
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hairs called vibrissae and the mucous membrane lies just behind
these. BCCs, SCCs and benign papillomas can be found in the
vestibule. The middle bit of skin connecting the lip to the nasal tip is
called the columella. The narrowest part of the nasal cavity is the
nasal valve which is at the upper border of the alar cartilage.

Nasal septum this is the midline division between each nasal
cavity and is made of thin, flat bony sheets posteriorly (ethmoid
and vomer bones) and cartilage anteriorly. The maxilla makes up
the majority of the floor of the nasal cavities. The covering of the
cartilage is mucoperichondrium and the covering of the bone is
mucoperiostium. The septum has a particularly good blood supply,
particularly anteriorly where four arteries anastomoses (Littles
area) and this is the most common site for nose bleeds.

Lateral nasal wall on the lateral walls are cigar-shaped ridges or
swellings called the superior, middle and inferior turbinates. Each is
made of a bone covered in vascular mucoperiostium. The space
under each of these is called a meatus (inferior meatus below the
inferior turbinate etc). The nasolacrimal duct and sinuses drain into
these spaces and hence the middle meatus is clinically most
important. The inferior turbinate can swell under autonomic control
and blocks off each nostril (to some degree) for around 4 hours
each to help prevent drying and allow regeneration.

Nasopharynx or post nasal space (PNS) the nasal cavities end as
two oval spaces called the choanae. Rarely a congenital abnormality
called choanal atresia can occur which is where a thin membrane
blocks these two choanae. As children are born obligate nasal
breathes then death will quickly follow if an oral airway is not given.
The eustachian tube enters the PNS on each side so a tumour or
infected enlarged adenoids can cause ear problems. In fact this can
be the sole presenting feature of a nasopharynx carcinoma. The
dividing line between the nasopharynx and oropharynx is the soft
palate.

Nasal symptoms there are many conditions which all produce a
limited number of symptoms. These include bleeding, obstruction,
pain, rhinorrhoea (running), trauma, itch, irritation, sneezing and
apnoea.

5) The student will be able to demonstrate knowledge of the diagnostic
features of:

Rhinitis can broadly be defined as an inflammation of the nasal lining.
Most causes of rhinitis lead to similar symptoms which include nasal
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congestion, rhinorrhoea, postnasal drip, sneezing and nasal irritation.
History and allergy testing give the best indication of the cause of rhinitis.

Its diagnosis is based on inflammation of the nose or Paranasal sinuses
with two or more of: blockage/congestion, anterior or postnasal
discharge, facial pain/pressure, reduction or loss of smell and either
endoscopic signs of polyps/mucopurulent discharge/oedema or mucosal
obstruction of the middle meatus and/or CT mucosal changes within the
ostiomeatal complex and/or sinuses

Infective rhinitis this is basically the nasal effects of the common
cold. It is usually viral in origin, spread by droplet transmission and
is mild and self-limiting. Occasionally secondary effects of colds can
persist after the infection has past, such as a middle ear infection or
long running sinusitis. Other specific infections include syphilis, TB,
and scleroma.

Infective/allergic sinusitis this can be acute (systemic upset,
pyrexia, rhinorrhoea with pus etc) or chronic (otherwise well,
postnasal drip, muzzy head and poor concentration) and presents
with facial pain, headache, nasal obstruction, anosmia/cachosmia
and halitosis.

Acute sinusitis is commonly infective in origin and the primary
infection has the effect of reducing ciliary function, causing oedema
of the nasal mucosa and sinus ostia and increasing nasal secretions.
These stagnant secretions within the sinuses may become
secondarily infected by bacterial, commonly streptococcus or
haemophilus. Any condition which blocks the ostia of sinuses or
interferes with nasal air flow can predispose to sinusitis. The roots
of the teeth often project into the maxillary sinus so dental infection
can be another route of entry. The diagnosis of acute sinusitis is
usually made on the clinical history and examination. X-rays are
confirmatory but generally CT scans give far more information.

Treatment of acute sinusitis is to reduce inflammation of the sinus
ostia using topical nasal decongestants such as ephedrine and also
to combat bacterial infection with antibiotics. Analgesics, such as
paracetamol, are also often required in addition. If the above fail
then aspiration and washout of the maxillary antrum will usually
speed recovery.

Chronic sinusitis is the result of chronic nasal mucosal inflammation
which is commonly infective, allergic or failure of the mucocilia in
origin. Frequently combinations of both are found. Such long-
standing mucosal inflammation induces cystic or polypoid changes
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in the lining of the nose and sinuses. The swollen mucosa further
narrows the ostia and so a vicious cycle results.

Treatment of chronic sinusitis is aimed at treating the cause
(infection/allergy) and entails the use of a topical steroid and/or
antibiotics. If this fails then surgery may be required to improve
drainage.

Allergic rhinitis this is the second most common type after
infective rhinitis and here the nasal lining becomes sensitised to
particular tiny particles known as allergens. These allergens cause a
hypersensitivity reaction which is IgE mediated and leads to mast
cell degranulation and release of histamine. Nasal effects include
vascular congestion, oedema, rhinorrhoea and irritation.

Some patients are allergic to allergens which are only present for a
particular season (seasonal) whilst others are affected all year
around (perennial). Examination of the nose in patients affected will
show a damp, pale nasal lining with swollen oedematous turbinates.
In long-standing allergy these turbinates become hypertrophied and
permanently enlarged and lose much of the erectile ability.

Management include avoidance of allergens, drug therapy and
occasionally turbinate surgery. The main drugs used should include
steroid preparations as topical sprays or drops the take on a long
term basis and control symptoms; antihistamines either orally or
topically; and sodium cromoglycate nasal spray which helps
stabilised mast cells for 4-6 hours and is used topically.

Non-allergic rhinitis this is unspecific but includes problems such
as vasomotor rhinitis, rhinitis medicamentosa, atrophic rhinitis and
many more.

Vasomotor rhinitis is where patients fail to test positive for any
allergens and is a diagnosis of exclusion. A small group of people
may response to position or weather and can give a convincing
history. Thankfully the treatment is much the same as with allergic
rhinitis.

Rhinitis medicamentosa is where there is an acquired sensitivity of
the nasal lining in response to the prolonged use of topical nasal
decongestant substances. The problem is that as the decongestant
wears off there is a rebound vasodilation so further decongestant is
taken. This causes a cycle and leads to turbinate hypertrophy with
chronic unresponsive nasal obstruction. Treatment involves the
cessation of the decongestant with instigation of topical nasal
steroid, and possible turbinate surgery.
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Atrophic rhinitis is less common now and is more often seen in
developing countries. It is associated with abnormal patency of the
nostril, usually as a result of surgery, and a loss of ciliated
epithelium. Thickened secretions form which then dry and leads to a
large crust with an unpleasant odour. Bleeding is frequent and a
nasal toilet is required regularly to clear debris. Steam inhalation as
well as glycerine should be used to soften the crusts. The most
effective treatment is to surgically close off the affected nostril but
this is poorly tolerated by patients. With the cessation of airflow the
normal nasal lining returns but this is lost when the airways is re-
opened.

Rhinitis can also occur in pregnancy, with sexual arousal, in hot
conditions and with old age.

6) The student will be able to demonstrate knowledge of the
complications of rhinosinusitis.

Complications of acute sinusitis include chronic sinusitis, facial cellulitis,
peri-orbital cellulitis, osteomyelitis, meningitis, brain abscess and
mucocoele formation.

Frontal sinusitis is important to recognise as it can be life and sight
threatening. It presents with tenderness over the forehead,
especially on percussion and can give a severe frontal headache,
becoming worse on bending. The infection can easily spread to the
orbits and cause blindness without warning. Another danger is the
spread to the cranial cavity with the formation of an extradural or
intracranial abscess. These patients should be treated aggressively
with broad spectrum antibiotics and decongestants. Surgical
intervention, with drainage, may be necessary if there are
complications or a slow recovery.

Peri-orbital cellulitis may be the presenting feature with ethmoidal
sinus infection as the infection almost always spreads from the
ethmoid sinus. These patients should be managed by ENT and not
ophthalmologists. This is the most common complication and spread
may be direct or blood-borne. Treatment is high dose antibiotics
and observation. This is sight threatening due to pressure on the
optic nerve.

Mucocoeles are a late complication of acute sinusitis. They are a
collection of sterile mucous occupying an obstructed sinus (usually
frontal or ethmoid). Over years the sinus expands due to mucous
that is trapped under pressure within it. This is usually
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asymptomatic unless infection occurs or the patient complains of
facial swelling. Treatment is by surgical drainage.

Intracranial complications can occur by direct spread, by venous
thrombophlebitis or along the perineural tissue of the olfactory
nerve. Meningitis is the most common complication. Others include:
- Cavernous sinus thrombosis = decreased venous return from the
eye causes the orbit to swell and symptoms include fever, rigors,
severe headache and reduced consciousness. Signs include 3
rd
, 4
th

and 6
th
nerve palsies and treatment is with high dose antibiotics
- Brain abscess = occurs most commonly in the frontal lobe and can
cause headaches, convulsions and changes in personality.
Treatment is neurological drainage or aspiration.
- Extradural abscess = secondary to frontal sinusitis and are usually
drained into the frontal sinus
- Subdural abscess = again secondary to frontal sinusitis and is
difficult to diagnose. Early symptoms include general malaise,
headache and some neck stiffness and signs of raised ICP. The
prognosis here is poor.

7) The student will be able to demonstrate knowledge of treatment of:

Rhinosinusitis mentioned above

Deviated nasal septum This may have resulted from trauma at
birth or later in life. This can lead to nasal obstruction of air flow in
a particular nostril. The treatment here, if required, is surgery to
straighten the septum. This is done by either removing the deviated
cartilage/bone or by mobilising and repositioning the deviated
cartilaginous septum (septoplasty). In reality it is often necessary to
do both of these. It is important not to excise the anterior or dorsal
septum since this provides support for the nose and ugly cosmetic
deformities may result.

External nasal skeleton trauma to the external nose is common
and a fractured nose is a common reason for referral to the ENT
department. Firstly it is important to take a holistic approach and
consider if the patient is suffering from cervical spine injury, any
head injury and any other facial injury or fracture. It should also be
considered if any legal action may occur (in which case do an x-ray)
and is there a possibility of a septal haematoma.

It is now important to consider whether there actually is a cosmetic
deformity or respiratory blockage and does this actually bother the
patient. If yes then manipulation under local or general anaesthetic
should occur within 2 weeks.
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Obstructive sleep apnoea snoring and obstructive sleep apnoea
syndrome (OSAS) are described together since all patient who have
OSAS snore but the reverse is not true. Patients on the borderline
of OSAS can be pushed over by ingestion of alcohol and other
sedatives.

Sleep apnoea is defined as 30 or more episodes of cessation of
breathing, each with a minimum duration of 10 seconds, occurring
in a 7 hour period of sleep.

Obstructive sleep apnoea is sleep apnoea due to collapse of the
upper airway. As a result the chest movements continue but to no
avail and blood oxygen saturations fall. When critically low a central
reflex causes the patient to waken slightly and take a deep breath
in order to overcome the obstruction. Over the long term this may
lead to pulmonary hypertension and right ventricular strain and
finally cor pulmonale.

Central sleep apnoea is less common than the obstructive type and
is due to a loss of central respiratory drive.

Signs and symptoms adult patients are often overweight with a
large neck and they frequently indulge in alcohol. In children the
syndrome is almost without exception due to adenotonsillar
hypertrophy.

Management can be through lifestyle changes, medical intervention
and surgery.
Lifestyle changes include losing weight and reducing alcohol
consumption as well as any other sedative taken.
Medically the patient may use drugs that reduce the amount of REM
sleep, where these episodes are more common, or respiratory
stimulants to maintain an increased effort. Continuous positive
airway pressure (CPAP) involves wearing a mask that gives a higher
end pressure than normal and this acts as a splint to keep the
airway open. This is often poorly tolerated.
The surgical option for children is adenotonsillectomy. In adults
surgery has to be focussed on the area that is actually responsible
for the collapse. This can vary from nasal polyps and a deviated
nasal septum to the soft palate or lateral pharyngeal bands. A
tracheostomy is an effective treatment but is reserved for extreme
cases which are unresponsive to other treatments.

Epistaxis firstly consider provoking factors such as trauma,
hypertension, NSAIDs, anticoagulants, URTIs and clotting disorders.
Initial first aid should include getting the patient to sit forward and
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pinch the fleshy part of the nose (not the bridge) for 10 minutes.
The patient should avoid swallowing the blood and an ice pack on
the nasal bridge may be helpful. Resuscitation may be needed in
severe epistaxis such as assessing blood loss, pulse, BP, getting IV
access, setting up an infusion, FBC, coagulation and group and
save. Further management includes examining the nose and looking
for a point of bleeding. If visible then spray the area with 5%
cocaine or another topical local anaesthetic and attempt nasal
cautery. If severe then the nose may need packing.

Cauterising the nose apply cotton buns soaked in 1:200,000
adrenaline or 5% cocaine solution to the area and apply pressure
for at least 2 minutes. Take a silver nitrate cautery stick which
should be applied for 1-2 seconds at a time. Start a few mm away
from the bleeding point and work in a circle to cauterise the feeder
vessels before attempting to cauterise the main point. If
unsuccessful then reapply pressure and pack the nose.

Nasal packing when cautery cannot be done (i.e. a posterior
bleed) then the nose needs to be packed. The idea is to put
pressure on the blood vessels to prevent active haemorrhage and
allow thrombotic mechanisms to act. These packs are usually left in
for 24-48 hours and are secured anteriorly to prevent them
prolapsing backwards into the airway. Most doctors will give
prophylactic antibiotics whilst the packing is in place. The packing
can be uncomfortable so the patient may be admitted and lightly
sedated. These can be used unilaterally at first but bilateral may
help by applying pressure to the other side.

Neck

1) The student should be able to examine the neck structures abutting
the lateral and inferior to the oral cavity

Mouth

1) The students should be able to examine the lips, oral cavity and
salivary glands

Facial Nerve

1) The student will have knowledge of anatomy of the facial nerve and
how to test its function
Page | 432

The facial nerve attaches to the lateral surface of the brainstem between
the pons and medulla oblongata. The roots cross the posterior cranial
fossa and leave the cranial cavity through the internal acoustic meatus.
The roots enter the facial canal in the petrous part of the facial temporal
bone where the geniculate ganglion is formed. At this ganglion the
greater petrosal nerve is given off which stimulates the secretormotor
activity in the lacrimal, submandibular and salivary glands. The facial
nerve continues along the canal and gives off the nerve to stapedius as
well as the chorda tympani (provides taste to the anterior 2/3 of tongue).
The facial nerve then emerges on the medial surface of the middle ear
before turning posteriorly to exit the skull through the stylomastoid
foramen.

It gives of the posterior auricular nerve (skin behind ear) and then passes
into the deep substance of the parotid gland where it usually divides into
its upper and lower trunks. Five groups of branches are created which are
(from superior to inferior) the temporal, zygomatic, buccal, marginal
mandibular and cervical.

The facial nerve provides motor innervation for most of the facial muscles
so it is important to test these groups. Such tests may include:
Getting the patient to close their eyes tight
Raise their eyebrows
Whistle/pout out their lips
Clench their teeth

2) The student will have knowledge of symptoms and signs of Bells Palsy

Bells palsy is thought to be a viral infection of the 7
th
nerve and it is
thought that up to 80% of facial palsies are due to a viral infection. It is
characteristically sudden in onset and is often preceded by a URTI.
Increased pressure on the nerve due to swelling in its tight bony canal is
thought to be the cause of the dysfunction. This is a LMN cause so results
in complete hemi-facial paralysis with no CNS or ear pathology.

If the patient presents within the first 48 hours then treatment with high
dose oral steroids should be considered. However some patients may be
left with residual facial weakness. Recovery usually begins within two
months. It must be remembered that this condition is a diagnosis of
exclusion.

3) The student will have knowledge of symptoms and signs of facial
paralysis due to parotid disease

Page | 433

Cancers and disease of the parotid are uncommon. The most common
tumours here are usually benign pleomorphic adenomas. Other more
concerning tumours such as squamous cell carcinomas and
adenocarcinomas may also occur.

Since the facial nerve enters the parotid as one fibre, and splits into five
branches within, there are many places where the nerve may be affected.
A large tumour or mass may compress on the entire nerve and cause a
complete LMN facial palsy of that side. However, smaller masses may
only cause paralysis of certain muscle groups depending on which
branches are taken out. Similar problems may occur if the nerve, or its
branches, are damaged during treatment or surgical removal. Weakness
may also occur firstly and progress to a complete palsy.

4) The student will have knowledge of symptoms and signs of skull base
pathology

Skull base pathology can affect the facial nerve around the
cerebellopontine angle (CPA) and cause a complete LMN facial palsy.
Depending on the pathology this also has the potential to affect the taste
fibres to the anterior 2/3 of the tongue, and the posterior auricular nerve.
The 8
th
nerve (vestibulocochlear) also emerges at the CPA and there may
hence be associated unilateral hearing loss and tinnitus.

Transverse skull fractures (10-20% of fractures) have the potential to
affect the facial nerve as well as hearing so may present in a similar way.

Nerves 9, 10, 11 and 12 may be affected.

5) The student will have knowledge of the management of facial nerve
paralysis

Paralysis of the facial nerve can also be due to an UMN lesion in the motor
cortex or pons. This will result in contralateral facial weakness with
sparing of the muscles of the forehead. Such pathologies include vascular
(TIA), iatrogenic, tumour or neurological.

Other pathologies include (LMN):

Ramsay Hunt syndrome which is a herpes zoster infection. This causes
facial palsy and pain with the appearance of vesicles on the ear drum,
canal and pinna. Vertigo and deafness may occur here and acyclovir
treatment is needed. This facial weakness is usually severe and often
does not recover.

Middle ear damage as the facial nerve runs across the medial surface and
can be compromised during surgery, trauma or infection.
Page | 434

Treatment: this is always of the underlying cause of the paralysis. The
actually paralysis also needed managing. If it is complete then the
conjunctiva may be permanently exposed and ulcerate leading to
blindness. Hence artificial tear eye drops are needed along with potential
surgery. There are also several operations to sling the joints in patients
with a limited degree of movement.

Most importantly, with anyone presenting with facial paralysis, a full
otoneurological examination is required without delay.

Nasal and Paranasal Disease

1) The student will have knowledge of how to take a focused clinical
history

2) The student will be able to examine the external and the anterior part
of the nasal cavity

3) The student will know how to make a differential diagnosis between
infections, allergic, non-allergic rhinosinusitis and structure defects

Acute rhinosinusitis is inflammation of the mucosa of the upper
respiratory tract for up to 4 weeks and usually follows an URTI (usually
strep pneumonia or haemophilus influenzae. Typical symptoms include
severe unilateral pain over the infected sinus, malaise, pyrexia, nasal
blockage, mucopurulent discharge rhinorrhoea and poor smell. Acute
facial pain without nasal symptoms is unlikely to be rhinosinusitis.

Chronic rhinosinusitis may follow ARS or be more insidious in onset.
Symptoms are nasal obstruction and a discoloured discharge for more
than 12 weeks. There may also be a loss of smell and some facial pain
(although it is usually painless). Allergic rhinosinusitis may still have the
obstruction and loss of smell but the mucosa will be pale and oedematous
and only a slightly pale mucous with sneezing and irritation.

4) The student will be able to make a differential diagnosis of the
complications of rhinosinusitis

Mentioned above

5) The student will understand the medical and surgical treatments for
rhinosinusitis and structural nasal defects

Spoken about above but to reiterate:

Page | 435

Acute rhinosinusitis simple analgesia, nasal decongestants (max of 5
days) and steam inhalation. Antibiotics are rarely needed but patients
may expect them. If there are signs of complication or no improvement
then surgical drainage of the sinus may be indicated.

Chronic rhinosinusitis principles are to ventilate the sinuses and restore
mucociliary clearance. A broad course of antibiotics is given for 3 weeks
and topical nasal steroid drops for 2 months followed by a nasal steroid
spray. Any allergic element should also be treated as usual. Surgery can
help those who do not improve with this treatment and involves opening
the sinuses to encourage drainage.

Snoring

1) The students will be able to differentiate between social snoring and
sleep apnoea

Snoring is common and is caused by vibration of one or more areas of the
upper airway. Sleep apnoea is where there is increased upper airway
resistance resulting in sleep disruption and resultant daytime sleepiness.
Obstructive sleep apnoea syndrome (OSAS) is a particular subtype of
sleep apnoea where there is repeated collapse of the upper airway,
usually associated with desaturation. When hypoxia occurs a central
impulse causes a slight lightening of consciousness and an increased
respiratory effort to overcome the obstruction.

Not all people who snore have sleep apnoea but all people who have sleep
apnoea will snore. Sleep apnoea is broadly defined as 30 or more
episodes of cessation of breathing, each lasting at least 10 seconds,
occurring over a 7 hour period of sleep.

Symptoms associated with OSAS:
Excessive daytime sleepiness
Impaired consciousness
Snoring
Unrefreshing sleep
Choking episodes during sleep
Witnessed apnoea
Restless sleep
Irritability/personality change
Nocturia
Decreased libido

Aetiology of snoring and sleep apnoea
a) Age increased chance with older age up to 7
th
decade
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b) Sex males are 2-5 times more likely to suffer. Oestrogen has been
shown to be protective as there is a rise in women after the menopause
but not if on HRT
c) Obesity the most important risk factor with 70% of people with a BMI
over 40 suffering. However neck and hip measurements are better
d) Obstructed upper airway obvious
e) Social habits smoking and alcohol dont help
f) Other risk factors a family history, sedating drugs, neuromuscular
disease, chronic lung disease

Consequences
a) Neurocognitive effect daytime sleepiness causes a cognitive
deterioration and can increase the risk of an accident
b) Cardiovascular can contribute to systemic hypertension as well as
pulmonary hypertension and eventually ventricular failure and cor
pulmonale.

Assessment
There are many different ways to assess a patient but the main reasons
are to assess where the cause is and what the actual diagnosis is.
Methods include sleep studies with various monitoring, or invasive
endoscopies with probes to detect vibrations. Sleep studies should be
conducted in patients with COPD or respiratory problems, people who
work as drivers or with dangerous machinery and patients who are being
considered for surgery.

Children
Unlike adults the incidence is similar in both sexes and does not increase
with age. Peak occurrence is between the age of 2 and 5 when the
adenoid and tonsils are largest (almost exclusively the cause). Children
often show signs of failure to thrive rather than obesity and may be over
active rather than sedated.

2) The students will understand the treatment of snoring and sleep
apnoea

There are a huge number of treatments and the choice is determined by
an accurate diagnosis as well as an accurate location of the offended
lesion/area.

Treatments include:
Behavioural changes ear plugs for partner, sleeping on side etc
Weight loss very effective in the majority
Lifestyle changes stop alcohol, smoking and sedatives
Continuous positive airway pressure (CPAP) the gold standard
treatment which involves wearing a mask that delivers a positive
pressure. This keeps the airway open after expiration to prevent the
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obstruction. This is extremely effective but poorly tolerated by
patients for obvious reasons.
Intra-oral appliances devices are available to open the airway or
fix the mandible in place but these have side effects such as
drooling, joint discomfort etc
Pharmacological treatments there are medications available to
either reduce the amount of REM sleep (when these episodes occur
most often) or to increase respiratory effort. Both can be effective
in selected patients.
Upper airway surgery this includes extreme measures such as
tracheostomy (very effective as it bypasses the problem) or others
such as nasal surgery, uvulopalatopharyngoplasta (UPPP) or
radiofrequency.

Salivary Glands

1) Students should demonstrate knowledge of salivary gland
inflammatory disease

Non-cancerous disease of the salivary glands can be divided into viral
infection, sialadenitis, sialolithiasis, granulomatous disease and Sjogrens
syndrome. It is also important to remember that the two main symptoms
of salivary gland disease are pain and swelling. There may also be
lacrimal involvement which needs to be assessed with systemic disease.

Systemic viral infections: Mumps (caused by paramyxovirus) is the
most common cause of bilateral parotid gland enlargement. The
submandibular gland can also be affected but this is rare. It occurs
mainly in children and presents with a systemic upset, swelling and
pain which are due to the stretched parotid capsule. Infection with
HIV can also be associated with infection of the major salivary
glands.

Sialadenitis: This is an acute infection of the parotid or
submandibular gland that presents with pain and swelling of the
gland. Acute parotitis commonly occurs in older debilitated patients
who may be dehydrated and have poor oral hygiene. Local
symptoms are pyrexia and systemic upset with a swollen and
tender gland with visible pus coming from the opening of the
parotid duct into the mouth. With the submandibular gland the
tissues of the floor of the mouth are swollen and oedematous.
Treatment is with high-dose antibiotics, rehydration and oral
hygiene. Citrus mouthwashes will also improve saliva flow. If
untreated a parotid abscess may occur and need surgical drainage.

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A chronic form of this can also occur with recurring inflammation
and pain that may follow an acute infection or be more insidious in
onset. Pain and swelling are common symptoms that occur
episodically or transiently after meals. With repeat infections there
is scarring of the architecture of the gland and surgical excision may
be necessary.

Sialolithiasis: This describes the formation of stones (calculi) within
the salivary glands and often occurs alongside chronic sialadenitis.
Most stones occur in the submandibular gland (maybe because the
secretions are thicker) but they can occur in the parotids. These
calculi usually present with postprandial swelling (after eating) and
pain in the affected gland or in association with repeat infection. On
examination the gland may be tender and swollen and, if the calculi
has migrated into the submandibular duct, then it may be palpated
in the floor of the mouth. The calculi can be seen on x-ray or when
injecting radio-opaque dye into the duct. Initial treatment is with
oral fluids and sialogogues (e.g. lemon drops which stimulate
secretions) as sometime stones pass by themselves. If the situation
becomes worse the stone or the gland can be surgically removed.

Granulomatous disease: Both tuberculosis and non-tuberculous
disease can affect the submandibular and parotid glands and will be
seen as a cold abscess of the lymph nodes adjacent to the gland.

Sjogrens Syndrome: This syndrome affects many organ systems
and is thought to be autoimmune in cause. Xerostomia (dry mouth)
and keratoconjunctivitis sicca (dry eyes) are characteristic. Many of
these patients will also have diffuse parotid gland enlargement.
Minor and major salivary glands can be affected leading to a
reduced saliva flow. Diagnosis is made by biopsy and treatment is
symptomatic relief.

2) Students should demonstrate knowledge of salivary gland malignant
disease

Malignant tumours are relatively uncommon but present as a rapidly
growing swelling, often with pain and the involvement of other structures.
Facial nerve palsy with a parotid tumour is almost diagnostic of
malignancy. Local lymph node metastases may occur so a neck
examination should be included. Malignant tumours are more common in
the sublingual and minor salivary glands than in the parotid gland
therefore swellings in these areas must be treated with a higher index of
suspicion. Since minor salivary glands are dispersed throughout the oral
and nasal cavities tumours can occur anywhere.

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Muco-epidermoid tumours have a range of malignancy from low to high
and treatment depends on their grade. Low grade can be treated by
excision whilst higher grades may need radical resection and radiotherapy

Adenoid cystic carcinoma is the commonest salivary gland malignancy. It
grows gradually and local spread can be extensive, often with infiltration
along the nerves. Treatment is with radical local excision with
radiotherapy. Patients can live with this disease for many years but the
long term prognosis is poor.

3) Students should demonstrate knowledge of salivary gland benign
disease

Neoplastic disease of the salivary glands in uncommon and 80-90% of
salivary neoplasms will arise in the parotid gland. A similar proportion of
these tumours will be benign. Those arising in the submandibular or
minor glands are uncommon but more likely to be malignant. FNA and
excision biopsies should be used for diagnosis (not incisional as this can
spread the tumour).

Benign tumours classically present as slow growing, painless masses that
may have been there for a long time. Facial or other nerve palsy does not
tend to occur and examination usually reveals a smooth, subcutaneous
swelling with no attachment to the skin.

Pleomorphic adenomas are the most common salivary gland tumour and
usually arise in the parotid gland. These are benign but, if present for
several years, then they may start to show some malignant changes.
Treatment is by surgical excision taking care to remove it completely as
well as taking a healthy margin to prevent recurrence.

Warthins tumour or adenolymphoma also tend to arise in the parotid
gland (mostly the tail) and are most often found in older men.
Occasionally they occur bilaterally and treatment is by excision.

4) Students should demonstrate knowledge of the diagnostic features of
salivary gland disease

See above

5) Students should be able to competently examine the parotid glands

This is the largest of the salivary glands and is a serous gland which
produces watery saliva. It is situated in the cheek lying in the space
between the mastoid process and the mandible. Deep to this is the styloid
process, its attached musculature and the carotid sheath. Laterally the
gland is flat and enclosed in parotid fascia lying close to the skin. The
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secretions drain into the mouth via the parotid duct that opens at the
level of the second upper molar tooth.

The facial nerve emerges from the stylomastoid foramen that lies at the
posterior/deep border of the gland. As it passes through the gland it
divides into its five branches. Lying within the deep lobe is the external
carotid artery and several parotid lymph nodes.

6) Students should be able to competently examine the submandibular
glands

This is a mixed serous and mucous gland that lies in a triangular space
bounded by the mylohyoid muscle, the mandible and roofed by the deep
cervical fascia that is attached to the mandible and hyoid bones. The
gland is composed of a superficial lobe that lies on the mylohyoid muscle
and a deep gland lobe that wraps around the free posterior edge of the
muscle to lie in the floor of the mouth. The submandibular duct runs from
the deep lobe to open into the mouth as a papilla next to the frenulum of
the tongue. Three important nerves are related to the gland. The
hypoglossal and lingual nerves that are associated with the deep lobe and
duct, and the marginal mandibular branch of the facial nerve that running
in the skin overlying the gland.

7) Students should be able to competently examine the sublingual glands

This is the smallest of the paired glands and lies in the floor of the mouth
along the course of the submandibular duct. It is oblong in shape and is
mucus secreting. It drains its secretions by 10-15 ducts either directly
into the mouth or into the submandibular duct. It has similar relations to
those of the submandibular gland.

8) Students should be able to competently examine appropriate
investigations for salivary gland disease

Mentioned above but largely from history, FNA and excision biopsy

9) Students should be able to competently examine the treatment of
salivary gland disease

Mentioned above but mostly excision for benign or low grade malignant
and more radical resection with radiotherapy for high grade malignant
tumours.

Surgeons should be careful when operating on the parotid as the facial
nerve lies within the gland. Other complications include a haematoma,
salivary fistula and rare Freys syndrome (a condition where
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secretormotor fibres redirect to the sweat glands and activate during
meals leading to sweating over the parotid area).

Neck Masses and H&N Cancer

1) Students should be able to demonstrate the surface anatomy of the
trachea

From CVI to TIV/V where it bifurcates. Surface anatomy is from the
anterior inferior margin of the cricoids cartilage to the manubriosternal
angle.

thyroid gland

This is located in the anterior triangle of the lower neck on either side of
the airway and digestive tract inferior to the position of the oblique line of
the thyroid cartilage. Find it by palpating the thyroid prominence and arch
of the cricoids cartilage and then feeling posterolateral to the larynx. The
isthmus crosses the anterior to upper end of the trachea and is palpable
in the midline, inferior to the arch of the cricoids.

laryngeal cartilage

The laryngeal cartilages include the cricoids, thyroid, epiglottis,
arytenoids, corniculate and cuneiforms. The most relevant of which are
the cricoids and thyroid cartilages.

Thyroid cartilage is the largest laryngeal cartilage and is located in the
midline of the neck at CIII/IV (upper margin). The thyroid notch is
palpable and the thyroid prominence usually visible.

hyoid bone

The hyoid bone is located at CIII superiorly to the thyroid cartilage

carotid arteries

The right common carotid originates from posterior to the right
sternoclavicular joint. The left common carotid begins in the thorax and
enters the next near the left sternoclavicular joint. Both ascend lateral to
the trachea and oesophagus within the carotid sheath.

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Near the superior edge of the thyroid cartilage each divides into the
internal and external carotid arteries (in the carotid triangle). Here the
carotid body and sinus are found along with cranial nerves 9, 10 and 12.

The internal carotid heads to the base of the skull and enters through the
carotid canal. It gives off no branches. The external carotid gives off 8
different branches which are: superior thyroid, ascending pharyngeal,
lingual, facial, posterior auricular, superficial temporal and maxillary.

cricoids cartilage

Located immediately below the thyroid cartilage at level CVI and marks
the superior end of the trachea and oesophagus. This structure is
important as it allows for the identification of the cricothyroid ligament
through which a surgical airway can be created.

sternocleidomastoid muscle

This muscle consists of two parts, the sterna head and the clavicular
head. The sterna head originates from the upper part of the anterior
surface of the manubrium of the sternum and inserts along the lateral half
of the superior nuchal line. The clavicular head arises from the superior
surface of the medial third of the clavicle and inserts along the lateral
surface of the mastoid process. This muscle is evident when the patient
twists their head.

cervical lymph nodes

There are two types of cervical lymph nodes, those which are superficial
and those which are deep. The superficial are collected along the course
of the external jugular vein on the superficial surface of the
sternocleidomastoid. These primarily receive drainage from the posterior
and posterolateral regions of the scalp through the occipital and mastoid
nodes and send lymphatic vessels in the direction of the deep cervical
nodes.

The deep cervical lymph nodes form a chain along the internal jugular
vein (basically the same surface anatomy as the superior nodes). They
are divided into upper and lower groups by the omohyoid muscle when it
crosses the common carotid artery and internal jugular vein. The most
superior node in the upper group is the jugulodigastric node that receives
drainage from the tonsils and surrounding region. Another large node,
this time of the lower group, is the jugulo-omohyoid node which drains
the tongue.
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The deep cervical lymph nodes eventually receive lymphatic drainage
from the head and neck either directly or through regional groups of
nodes. From these nodes the vessels form a right and left jugular trunk
which empty into the right lymphatic duct on the right or the thoracic duct
on the left.

9) Students should be able to demonstrate the anatomical site where
brachial cysts develop

Brachial cysts are congenital and tend to present before the age of 30,
occurring in a characteristic position. They present as a lump in the neck
situated in the region of the middle third of the sternocleidomastoid
muscle and can be painful if infected. It is thought they result from
epithelial inclusions within a lymph node which later undergoes a process
of cystic degeneration. FNAC will result in a pus-like aspirate which is rich
in cholesterol crystals. Treatment is by surgical excision.

thyroglossal duct cysts develop

These lesions are congenital but tend to present in childhood or adulthood
rather than at birth. They result from a defect in the development of the
thyroid gland. The thyroid develops at the tongue base and in embryo it
descends downwards around or through the hyoid bone, and through the
tissues of the neck, to eventually overlie the trachea and thyroid
cartilage. As a result of this a tract is left which runs from the foramen
caecum of the tongue to the thyroid gland. The tract usually resorbs but it
can remain and hence cyst or fistula formation of the tract can result.

The lesions are almost exclusively present in the midline and will move
upwards when the patient sticks out their tongue (due to the attachment
with the hyoid and tongue base). The patient may notice a swelling (or a
discharge if a fistula) at the front of the neck. Treatment consists of
surgical excision of the whole tract, including the body of the hyoid bone.
Excision of small parts is usually ineffective as the condition can recur and
this is why complete excision is recommended.

thyroid masses develop

Thyroid masses can develop over the thyroid, anywhere between the base
of the tongue and thyroid gland, or in surrounding lymph nodes.

There are two broad categories of thyroid enlargement, benign and
malignant.

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Goitre: can be separated into a diffuse enlargement and a nodular
enlargement. A diffuse enlargement can occur as a direct result of iodine
deficiency or even in pregnancy. It is due to excess stimulation by TSH
and hence Graves disease is another major cause. A nodular enlargement
(with single or multiple nodules) must raise the question of malignancy.
Multiple nodules may result from alternating episodes of deficiency of
iodine or TSH hyper secretion. In such cases thyroidectomy is only
necessary from a cosmetic or compressive point of view.

Malignant conditions Tumours of the thyroid may arise from follicular
cells (papillary, follicular and anaplastic carcinomas) or parafollicular cells
(medullary carcinoma). 50% are papillary, 25% of follicular, 20% are
anaplastic and 5% are medullary.

Papillary most common between 40 and 50 years old and tend to be
multifocal with 60% of patients have neck nodes involves at presentation.
There is a 90% survival if the tumour is confined to the gland and 60% if
it is not. Since it is multifocal a total thyroidectomy is the treatment of
choice with neck dissection (if necessary) and radioactive iodine given
after to ablate any viable thyroid left.

Follicular more common between 50 and 60 years old and tend to have
a well defined capsule. These tumours tend to spread haematologically
rather than by invasion. Treatment is similar to papillary carcinomas.

Anaplastic this is a deadly tumour of which 92% of patients will die
within one year despite treatment. It tends to affect elderly women who
has long term thyroid enlargement. Patient presents with a rapidly
enlarging mass, pain, referred otalgia and symptoms due to invasion of
the larynx, trachea or oesophagus. Radical radiotherapy offers the only
cure but early recurrence is common.

Medullary this tumour arises from the parafollicular cells which secrete
calcitonin. As a result the plasma level of these hormones is raised but
the level of calcium remains constant. Regional lymph nodes are affected
in 30% of cases and total thyroidectomy plus radiotherapy is
recommended.

Benign adenoma a benign tumour may or may not secrete thyroxine.
An actively secreting tumour will take up radioiodine or technetium and is
known as a hot nodule. Symptoms of thyrotoxicosis may develop and, if
suppressant treatment fails, then surgery or radioiodine may be required.
Hot nodules are rarely malignant. Non-functioning adenomas also occur
which do not take up iodine. These are referred to as cold nodules and
10-20% will, in fact, represent malignant rather than benign tumours.

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12) Students should be able to demonstrate the diagnostic features and
presentation of head and neck malignancies.

This is pretty broad so I will just cover features that may indicate
malignancy in general.

Most head and neck cancers manifest as an enlarging mass that may be
asymptomatic, painful, ulcerating or visible. Subsequent symptoms
depend on its location but these include pain, paresthesia, nerve palsies,
trismus and halitosis. Otalgia is also a symptom that is often overlooked
and may represent referred pain. Weight loss and dysphagia may be
other symptoms. The tumour may also encroach on other structures and
cause local damage by invasion or compression.

13) Students should be able to demonstrate knowledge of leukoplakia

Leukoplakia is white patches adhering to the oral mucosa that cannot be
removed by rubbing. They are usually asymptomatic and represent a
hyperkeratosis of the oral keratosis. This is usually associated with local
irritation e.g. smoking, alcohol, dentures and strong spices. 3% of these
lesions will undergo malignant change over 5 years.

The problem is found in less than 1% of people and most commonly
between the ages of 50 to 70. It is more common in men than women
with a ratio of 2:1.

The patches are most commonly found on the tongue and are bright when
with sharply defined edges. The patches are slightly raised above the
normal mucosa. Erosions or ulceration can occur and are a sign of
malignant change.

Management is first by general measures such as stopping smoking and
drinking. Retinoids have been shown to be effective in some cases and
surgical excision is also an option.

Another form of this condition is hair leukoplakia that is associated with
HIV and EBV. It is often asymptomatic but some symptoms may include
mild pain, dysaesthesia, alteration of taste and cosmetic impacts.
Treatment is via antiviral therapy, topical retinoids and surgery. Vigorous
brushing off the tongue can also help remove these.

14) Students should be able to demonstrate knowledge of erythroplakia

These are red patches in the mouth that cannot be attributed to any other
pathology. It is often associated with dysplasia and hence a precancerous
lesion. Most are found in the floor of the mouth, the tongue and the soft
palate. It is red and macular/papular with well defined borders and has a
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soft/velvety texture. An adjacent area of leukoplakia may be noticed.
Treatment involves biopsy and surgical excision.

15) To demonstrate a competent examination technique of the neck

16) To demonstrate a competent examination technique of the oral cavity

17) To demonstrate a competent examination technique of the
oropharynx

18) To demonstrate a competent examination technique of the cranial
nerves:
V Trigeminal: Sensation and pain of the face plus muscles of
mastication, corneal reflex

VII Facial: Facial muscles and taste of anterior 2/3 of tongue

IX and X Glossopharyngeal and Vagus: Taste to posterior 1/3 of
tongue and sensation of soft palate, swallowing, gag reflex uvula
displacement (to normal side), vocal cords.

XI Accessory: Trapezium and sternocleidomastoid muscles

XII Hypoglossal: Muscles of the tongue with deviation towards the
affected side, articulation

Voice Disorders

1) To demonstrate knowledge of the anatomy and function of the larynx

The main function of the larynx is to act as a sphincter to protect the
lower airways from contamination by food, liquid and secretions. It also
allows for a effective cough and provides the ability to produce speech.
The larynx is essentially a tube made up of a series of cartilage and bone
which are held together by interconnecting membranes, ligaments and
muscles. Superiorly it connects to the pharynx and inferiorly to the
trachea.

The larynx consists of the cricoids cartilage, the thyroid cartilage, the
epiglottis and the arytenoids cartilages (plus a few others).

The cricoids cartilage is the most inferior cartilage of the larynx and is
signet ring in shape. It provides an attachment for the arytenoids
cartilages and the thyroid cartilage.
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The thyroid cartilage is the largest of the laryngeal cartilages and
connects with the cricoids cartilage and hyoid bone. It also provides a site
of attachment for the epiglottis and the vocal ligament.
The epiglottis is attached to the posterior aspect of the thyroid cartilage at
the angle and projects posterosuperiorly from its attachment. It main
function is to protect the airway when swallowing.
The arytenoids cartilages are pyramidal shaped cartilages and attach to
the vocal cords. These are responsible for adduction and abduction of the
ligaments. These also attach the vestibular ligament superiorly which is
the false cord and this attached anteriorly to the thyroid cartilage. There
are many muscles that control these ligaments that I wont go into.

During swallowing the food bolus is propelled backwards by the tongue
and from here it enters two channels called the pyriform fossa. These are
groves that run downwards and backwards around the laryngeal inlet and
lead into the oesophagus. During this process the larynx is drawn
upwards and this has the function of tilting the laryngeal inlet and
bringing it closer to the tongue base and epiglottis, which act a bit like a
lid.

The vocal folds are sometimes called the glottis and lie suspended in the
airway by the arytenoids and thyroid cartilages. The vocal cords
themselves have a complex structure consisting of many layers which
allows the superficial coverings to be relatively mobile while the body
remains stiffer. The glottis divides the larynx into two; the supraglottis
and the subglottis. The supraglottis has sensation supplied by the internal
branch of the superior laryngeal nerve whilst the external branch carries
motor fibres to the cricothyroid muscles. These helps adjust the tension of
the vocal cords and is the only laryngeal muscle on the outside of the
larynx. The recurrent laryngeal nerve carries sensation to the subglottis
and supplies all other laryngeal muscles. This is a branch of the vagus
nerve and has a relatively long course, especially on the left side. Because
of this it is prone to injury in the neck or chest.

There are several laryngeal muscles and they are all involved with
adjustment of the vocal cord position and tension. The posterior crico-
arytenoid muscle is the only muscle to move the cords apart (abduct) and
is hence often described as the most important muscle in the body
(without it you cant get air in!).

Lymphatic drainage is also important to cover here. The glottis acts as a
sort of watershed in the larynx; supraglottis drains to nodes in the neck
whilst subglottis drains into paratracheal nodes. The vocal cords
themselves have very limited drainage.

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The supraglottis comprises of: epiglottis, false cords, ventricles,
aryepiglottic folds and arytenoids. It extends from the epiglottis to the
level of the hyoid bone and superior aspect of the vocal cords

The glottis comprises of: true vocal cords

The subglottis comprises of: the region between the vocal cords and
trachea.

Other important surface anatomy is covered in a section further up.

2) To demonstrate knowledge of the diagnostic features and causes of
laryngeal malignancy

The most common malignant tumour of the larynx is a squamous cell
carcinoma. Here the most important aetiological factor is smoking. The
greater the number smoked and the longer the time period equate to a
higher risk. Heavy alcohol intake can increase this risk even further.

Symptoms: The primary symptom of carcinoma of the vocal cords is
hoarseness. Since a small lesion here will cause symptoms early, and
because of this areas poor lymphatic drainage, the prognosis is good (5
years = 95%). Always consider cancer in a patient with persisting
hoarseness for greater than 6 weeks. Cancers in the supraglottis and
subglottis unfortunately do not have such definite and early symptoms.
They may cause irritation in the throat, a cough, referred otalgia or may
present with a node in the neck. It is usually not until late when the
airway or voice is compromised.

Signs: Raised, thickened, irregular mass with leukoplakia and redness.
There will also be narrowing of the airway and potentially fixation of the
vocal cord on visual examination.

Treatment: The primary options are endoscopic removal, radiotherapy
and radical surgical excision. However it must be noted that surgery can
have a significant impact on the voice and may result in a tracheostomy
being needed after the laryngectomy.

recurrent laryngeal nerve palsy

Firstly it is important to mention that the larynx can be affected by a
more central pathology such as a CVA, trauma or tumour to the brain. In
these circumstances phonation is less important than protection of the
airway. Many of patients who have extensive brain injury die of
pneumonia as a result of aspiration.

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The recurrent laryngeal nerve is a branch of the vagus nerve and has an
unusually long course, especially on its left side. On the left it runs around
the arch of the aorta before passing upwards over the pleura and into the
neck where it runs in a groove between the trachea and oesophagus
before finally entering the larynx. Because of this long route it is
commonly damaged by disease of, or surgery to, any structures close to it
(lungs, oesophagus, thyroid). There is generally a rule of thirds for vocal
cord palsy: 1/3 idiopathic, 1/3 surgery and 1/3 neoplasia.

Vocal cord palsies affect the left side 75%, the right side 15% and both
10%. Of the malignant disease the most common is cancer of the
bronchus.

Symptoms include a hoarse/weak voice with tires after prolonged talking.
There may be choking with fluids, high pitched voice, diplophonia and a
weak bovine cough.

When investigations of a vocal nerve palsy are done the cause should be
assumed to be malignant unless proven otherwise. A chest x-ray is
mandatory and also a CT scan if the x-ray shows nothing abnormal. Other
investigations may include an ultrasound of the thyroid gland and rigid
endoscopy if the aerodigestive tract under GA.

It is also important to consider that the vocal cords may be paralysed for
other reasons. For example the crico-arytenoid joint may become fixed
due to severe RA or reflux. Here direct laryngoscopy is recommended
under GA.

muscular tension dysphonia

Muscle tension dysphonia is the commonest cause of voice disorders seen
is secondary care. It is caused by an imbalance of pull in the cords which
results in excessive tension of the paired laryngeal muscles. There are
many multifactorial aetiologies for this and these include: stress, anxiety,
depression, conversion disorders, neck/back problems, poor vocal
hygiene, lifestyle (vocal abuse, not enough fluids, too much
tea/coffee/fizzy drinks, eating late/fatty food) or a secondary mechanism
such as excessive tension required to overcome a deficiency in the voice
producing mechanism e.g. structural defect of cords or poor respiratory
function.

It presents as a variable hoarseness and can range from normal to no
voice. Voice usually worsens with use and may be a little deeper or higher
for the expected age and sex. The voice is unstable and there is a
dryness/uncomfortable sensation in the throat.

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Signs include a croaky/hoarse, breathy, bizarre or aphonic voice. The
voice quality can vary and may sometime be normal. The cough is often
normal, even with aphonia. Vocal folds appear normal in appearance and
movement but either constriction of false cords, antero-posterior
constriction or extreme sphincter closure when the vocal folds disappear
from view beneath the false cords.

Treatment involves vocal hygiene and lifestyle advice, voice therapy and
addressing the underlying causative factors.

benign vocal cord lesions

There are many benign vocal cord lesions and the following will be
discussed: nodules, polyps, Reinkes oedema, cysts and papillomata.

Papillomata of the larynx are the least rare benign tumours and are most
often seen in children, although they can manifest in adults. The
underlying cause is infection with HPV. The extent of the disease is
variable and may only affect a small area of the larynx or may be
widespread and involve the entire respiratory tree. The most common site
to be affected are the vocal cords and hence hoarseness is a common
symptoms. In severe cases stridor may develop.

Treatment here should be to preserve the airway without damaging the
larynx. Modern treatment often involves removing the papillomata, often
using a laser. Usually several removals are required over many years as
they can re-grow at an alarming rate. Very rarely the papillomata can
occlude the airway and hence a tracheostomy or laryngectomy is
required. Modern treatment has involved using immune regulation with
steroids or interferon but mixed results have been seen. Malignant
transformation to squamous cell carcinomas has been described in adults
so histological examination is always required.

Vocal cord nodules are often called singers or screamers nodules as these
are usually the result of vocal abuse. They cause hoarseness and
gruffness of the voice. No treatment is required unless the patient is
unhappy with the changing quality of their voice. Examination will show
small, usually white, nodular thickenings of the vocal cords bilaterally.
These form at the area of maximal forceful glottic closure (junction of the
anterior third and posterior two thirds of the cords). Initially they are soft
and probably the result of a small haemorrhage into the vocal cords. With
time fibrosis occurs and the nodules become firm. Treatment consists of
speech therapy which is often successful, especially in the soft variety. If
the nodules are resistant to conservative management then surgical
excision may be required.

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Vocal cord polyps and cysts: these lesions will present with a hoarse
voice. The inflammation of the cords will lead to oedema in Reinkes space
causing the whole length to become oedematous, known as Reinkes
oedema. When the inflammation is localised to one region of the cord
then cysts or polyps may develop. A cyst forms when the oedema
localises under the covering of the cord and remains contained within it. A
vocal polyp results from oedema more superficially in the cords which
then prolapses into the airway. These can be difficult to recognise when
small and removal is necessary in order to submit for a biopsy.

Polyps: causes = shouting when suffering from a cold or extra-
oesophageal reflux. Men>women 30-50s. Symptoms include a husky
voice and voice cutting out when speaking. Signs are a unilateral grey or
haemorrhagic swelling arising in the middle. Treatment is surgical,
medical or voice therapy.

Reinkes Oedema: causes = smoking and talking a lot, reflux and
men=women. Symptoms are a deep gravelly voice with episodes of
choking if severe. Signs are usually a bilateral grey or erythematous
swelling along the whole length. Treatment is to stop smoking, surgical
reduction, medical treatment for reflux and voice therapy.

Cysts: causes = not known but thought to be due to laryngeal
inflammation, men=women. Symptoms include a husky voice, pitch
breaks, loss of range of voice and increased effort to produce voice. Signs
are a unilateral nodular swelling, localised bulge or stiffness of cords.
Treatment is voice therapy to reduce tension and surgical excision.

reduced and absent vocal cord mobility

The final position that the cords adopt is important since, if lateral, then
the voice will be poor and the airway good, and vice versa.

The major causes have already been discussed but in summary they are
viral infection, cancers (benign or malignant) of the cord/joint or a tumour
of the nerve, damage from intubation or laryngeal reflux, functional
dysphonia and laryngitis.

I will now discuss laryngitis and functional dysphonia since the other
conditions are covered above.

Functional dysphonia is a diagnosis that includes a wide variety of non-
organic voice problems. The patient may present with a weak of hoarse
voice that tires easily and is abnormally pitched. These problems can be
attributed to laryngeal dysfunction resulting from vocal strain, stress and
psychological or psychiatric problems. The patient may have experience
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some form of stress or life event at the time of onset and it is not
infrequent that a family member/friend has recently developed a serious
throat condition. Firm reassurance is necessary and speech therapy can
relieve laryngeal tension. On rare occasions the help of a psychiatric may
be needed.

Acute laryngitis: the larynx can become inflamed in isolation or as part of
a general infective process. When only the larynx is affected it may be
due to vocal abuse or voice strain as well as due to irritant substances
such as cigarette smoke or alcohol fumes. A hoarse voice is the most
common compliant but occasionally complete aphonia may occur. The
patient may also complain of pain on speaking and swallowing. If there is
an infective element then general malaise and slight pyrexia may be
present. The vocal cords appear red and oedematous and, in fact, often
the whole larynx is inflamed with swelling of the arytenoids and false
cords. Movement of the cords is restricted here but symmetrically and
without paralysis.
Treatment is largely supportive with steam inhalation, voice rest, simple
analgesia and gentle warmth applied to the anterior neck. Cough
suppressants may help if this is a prominent feature. Forced vocalisation
of an already inflamed larynx can lead to haemorrhage into the vocal fold
and the resulting fibrous reaction can lead to permanent vocal disorders.

Epiglottitis: although this doesnt necessarily affect the vocal cords it is
still important to know about. This is an acute and life threatening
condition and must always be considered in pyrexia children with a sore
throat. It can start with features of an URTI and rapidly progress to total
airway obstruction within hours. This usually occurs in children but can
also affect adults where the whole supraglottis is usually involved.
Features include difficulty in swallowing, drooling, a change in voice or
change in childs cry. Avoid lying the patient down as this can lead to a
collapse of the airways. The patient will usually be sitting up and using
their accessory muscles for respiration. No intra-oral investigations should
be performed without the equipment for intubation or emergency
tracheostomy. The agent responsible is commonly H.influenzae so the
condition rapidly responds to IV antibiotics.

Croup: this is usually viral in origin and again due to H.influenzae. Here
in causes diffuse inflammation of the airways and not just the
supraglottis. It tends to have a longer course then Epiglottitis and can be
serious or even fatal. A low grade URTI is common followed by a rise in
temperature and present of stridor. A generalised deterioration ensues
and the child quickly becomes toxic. Treatment is with IV antibiotics and
nebulised adrenaline. A period of ventilation may be necessary is serious
cases.

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Laryngeal diphtheria: extremely rare in the UK but early treatment with
antibiotics and antitoxin is needed. The symptoms are a hoarse voice,
cough and later stridor which can progress to total airway obstruction. It
can also affect the oral cavity and pharynx causing erythema and
swelling. Damage to the myocardium and peripheral nerve from the toxin
can occur.

Chronic laryngitis: this is often multifactorial but the most important
aetiological factor is smoking. Patients can often trace things back to a
nasty URTI and since this they have been hoarse. Once inflammation has
occurred it is sustained due to a combination of factors such as vocal
abuse, chronic bronchitis, sinusitis leading to post nasal drip,
environmental pollutants, acid reflux and alcohol fumes. Rarely TB,
syphilis and fungal infections can be a cause. The patient complains of a
hoarse voice and examination will show erythematous cords which may
be thickened and oedematous. Even a small amount of oedema in
Reinkes space will be slow to resolve due to the poor lymphatic drainage
of the area. Chronic inflammation can lead to dysplasia and carcinoma in
situ so this must be watched.
Management consists of intensive speech therapy and the removal of
causative factors. Surgery is more diagnostic now so has been largely
abandoned.

treatment of common voice disorders

Dysphonia any impairment in the voice or difficulty speaking
Dysarthria imperfect articulation of speech due to disturbances of
muscular control incoordination
Dysphasia impairment of speech and verbal comprehension (sensory
dysphasia) or speech and verbal production (expressive dysphasia)
especially when associated with brain injury
Hoarseness a perceived rough, harsh or breathy quality to the voice

Voice problems can be categorised into one of the following causes:
inflammation, muscle tension imbalance, structural/Neoplastic or
neuromuscular. One of the may lead to another and more than one may
be present at once.

Assessing a voice problem should include a history, listening to the voice
(if rough then implies a problem with the way the vocal folds are vibrating
or false cords being used. If breathy then implies problem bringing vocal
folds together e.g. vocal cord palsy), visualise the larynx, palpate the
neck and identify any contributing factors.

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Voice problems include: laryngitis, muscle tension dysphonia, nodules,
polyps, Reinkes oedema, cysts, papillomatosis, CARCINOMA or cord
palsy.

Treatment depends on the condition causing the dysfunction and most
have been mentioned in their respective objectives. Here I will talk about
a lateralised cord and a medialised cord. Injecting materials to change the
position of the cords and laryngeal framework surgery (thyroplasty) are
used to medialise a lateralised cord. Firstly it must be mentioned that
surgeons usually like to wait 6 months before operating (unless urgent)
as sometimes vocal cord function can return.

Thyroplasty performed under local anaesthetic so voice can be assessed
during operation. This involves a small neck incision and exposure of the
thyroid cartilage. An oblong window is cut into the cartilage below the
level of the vocal cord and then a silastic shim is inserted to manually
reposition the cords.

Alternatively a thick fluid can be injected lateral to the cord and hence
push it closer to the midline.

If the cords are medialised and need lateralising then the cords can either
be manually repositioned as above or a section of cord can be removed to
improve breathing.

Upper Airway

1) To demonstrate knowledge of the diagnostic features and causes of:

Clinical signs and symptoms of upper airway obstruction

The symptoms of upper airway obstruction include noisy breathing,
increased shortness of breath, change in voice (hoarse), potentially
local pain and maybe even dysphagia.

Signs of UAO include stridor, SOB (increased RR, suprasternal
retraction, use of accessory muscles for inspiration and
restlessness), voice change, drooling and subcutaneous
emphysema.

Management of upper airway obstruction

First aid measured should firstly be applied and, if in respiratory
arrest, then clear mouth and oropharynx of vomit, dentures or
foreign bodies by suction of sweeping the airway with a gloved
finger. If cyanosed and still breathing give heliox (80% helium and
20% oxygen which is easier to breathe).
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Then consider which management option is most suited to the
situation. The options are an airway (nasopharyngeal, oral or
laryngeal mask), intubation, cricothyroid puncture or tracheostomy
under local anaesthetic.

Using a brown IV cannula palpate the thyroid cartilage and find the
cricothyroid groove beneath the lower edge of the thyroid cartilage.
Insert the cannula through the cricothyroid membrane and aspirate
air to confirm it is in the lumen. Remove syringe and place high flow
oxygen over the cannula. A second one can be inserted if
necessary. Call for help!

A percutaneous cricothyroidectomy kit can be used. If time then
anaesthetise the skin and use a scalpel blade to make an incision in
the midline of the airway over the cricothyroid membrane. Inset the
stillette into the airway and thread the narrow endotracheal tube
over this before removing the stillette. Attach an ambu bag and
oxygen supply and ventilate as necessary.

Endotracheal intubation vs tracheostomy: the choice should depend
on the nature of the obstruction, the severity, the expertise
available, the equipment available and the anxiety of the patient.

Treatment of upper airway obstruction

Treatment mostly consists of fixed the upper airway obstruction
once the patient has been stabilised and an airway secured.

2) To demonstrate knowledge of the diagnostic features and differentiate
between stertor and stridor

Stridor is defined as noisy breathing which can be on inspiration,
expiration or both. The Inspiratory phase is most likely to be at the
laryngeal level whilst expiratory is the wheeze of asthma in the bronchi or
bronchioles. A mixed type can also occur which involves the trachea or
laryngeal and lower airways. Stridor is typically high in pitch and is a sign
of respiratory obstruction such as croup, a foreign body, abscess or
allergic reaction.

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Stertor is a low pitched noise produced at the level of the
oro/nasopharynx i.e. snoring. It can manifest as heavy snoring when in a
coma or deep sleep and is sometimes due to obstruction of the upper
airways such as enlarged tonsils or choanal stenosis.

Stridor can have many different causes, the more common of which are:
Congenital laryngomalacia, vocal cord palsy, vocal cord web and
subglottic stenosis
Acquired trauma, foreign body, angioedema, Epiglottitis, croup,
vocal cord palsy, laryngeal carcinoma, subglottic stenosis, laryngeal
papillomata, large laryngeal polyps/cysts and external compressed
(i.e. a thyroid mass).

Management consists of taking a basic history and giving first aid as
required. The severity of the stridor should be assessed and the airway
should be improved or secured as necessary. Finally the underlying
causes should be investigated and treated. The severity of stridor can be
assessed by the patients general appearance and the following categories
can be used:
Only present on exertion
Only present on deep inspiration
Audible all the time but able to hold a conversation
Has to talk in short phases
Only able to get odd words out as concentrating on breathing
Unable to talk, using accessory muscles
Cyanosed
Respiratory arrest

Management of an upper respiratory obstruction is discussed above and
applies here.

3) To demonstrate knowledge of the diagnostic features and causes of the
indications, managements and complications of tracheostomy

A tracheostomy is an operation where a small hole is made through the
skin over the lower part of the neck and into the trachea. A breathing
tube is then inserted to bypass any obstruction above and allow
ventilation. However, by doing this, the humidifying and warming function
of the nose and upper airway is removed. These functions can be replaced
artificially and are very important. This tube also bypasses the vocal cords
and hence prevents speech. Various valves can be fitted to allow expired
air to pass through these.

Indications: the following are the main reasons for a tracheostomy:
To bypass an obstruction in the throat or voice infections,
cancers, anaphylaxis, foreign bodies and obstructive sleep apnoea

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To prevent breathing problems due to tissue swelling after an
operation the air passage through the larynx is relatively narrow
so a small amount of swelling can cause a substantial obstruction

To allow easier removal of secretions from the air passages and
prevent scarring of the larynx from long-term artificial respiration
initially patients may be intubated but this means the patient is
unable to cough up mucus and hence this may cause a chest
infection. Although mucus can be removed by suction, it is much
easier with a tracheostomy and these also protect the delicate lining
of the larynx.

To prevent overspill of secretions into the lungs: certain
neurological conditions affect the ability to cough and swallow
meaning aspiration is a risk. A cuffed tracheostomy prevents this.

To provide an alternative means of air entry into the lungs after a
laryngectomy (removal of larynx) this is a special type of
tracheostomy where the trachea is cut across and the lower end is
brought into a permanent stoma. The swallowing passage is then
recreated.

There are two main types of tracheostomy:
a) end tracheostomy performed as part of a laryngectomy
b) side tracheostomy here the larynx is left in place and an airway is
put through the skin over the trachea

A patient may only need to spend 5-10 day in hospital depending on why
the tube was inserted. The inner tube will need to be changed at 5 days
and the patient should be confident on how to look after the tube whilst at
home.

Risks and complications:
Early tube displacement, blocked tube from dry secretions,
pneumothorax, local infection, dysphagia and surgical emphysema
Late tracheocutaneous fistula on removing the tube, trachea-
oesophageal fistula and tracheal stenosis

Outcome often the tracheostomy can be removed at a later date
(depending on the reason for it). It is important to check the patient is
able to breathe for themselves normally and the tube is often blocked off
for 24-48 hours to check this. Later a large occlusive dressing is applied
over the hole (it has to be air tight to heal).

Element of a tracheostomy tube:
Cuff allows seal for ventilation and prevent aspiration
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Fenestration allows air to pass from lungs up through larynx for
speech
Reservoir allows cuff pressure to be estimate
Inner tube can be removed regularly for cleaning
Speaking valve flap valves which open and allow air flow to lungs
on inspiration and close on expiration, directing air through the
larynx for speaking.

Temporary tubes are often plastic but long term tubes are made of an
inert silver.

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Ophthalmology Topics and Topic Outcomes

Basic Clinical Skills

Ophthalmoscopy

Cornea 0.5mm thick and is the main refractive structure (40 dioptres).
It has 5 distinct layers and it is the endothelial layer that maintains the
dehydration. Its transparency is achieved by cell orientation and lack of
vessels.

Conjunctiva translucent mucous membrane that starts at the limbus
and covers the sclera and internal surface of the lids. It contains mucin-
secreting goblet cells.

Sclera irregular hydrates collagen fibres form a 1mm thick opaque layer
which is covered by highly vascular episclera. The posterior sclera
foramen transmits the ON and central retinal vessels.

Iris two layers, the stroma and pigment epithelium. The stroma is a thin
avascular layer which contains the sphincter pupillae muscle and
determines the iris colour. The second layer is the pigment epithelium
which contains the majority of the iris pigment and contains the dilator
pupillae muscle.

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Lens held by zonules and the epithelium produces lens fibres
throughout life. It has a high protein content and gets its nutrition and
oxygen from the aqueous. Cataracts can affect all its components.

Ciliary body part of the uvea and functions include aqueous secretion,
accommodation and influences aqueous outflow.

Vitreous a transparent gel which is firmly attached to the optic disc and
pars plana. It contains thin collagen fibres and is 99% water. Its function
is unknown and it has a higher rate of degeneration with age.

Retina has macular and peripheral regions. The macula provides the
colour vision (cones) and the fovea lies at the centre of the macula. The
peripheral retina provides side/night vision (rods). The retina also has two
basic structures; the neural retina and the retinal pigmented epithelium
(RPE). The neural retina is responsible for generation, amplification and
transport of electrical signals whilst the RPE provides functional and
metabolic support for the photoreceptors.

Fovea a 1.5mm diameter depression and is the region with the highest
concentration of cones.

Choroid part of the uveal tract and is a vascular sheet between the
retina and sclera. It is 0.25mm thick and contains an extensive network
of fenestrated vessels. It provides the blood supply to the outer retina
and it separated from the retina by Bruchs membrane.

Optic nerve formed by 1 million ganglion cell axons and has a central
clearing (cup) which is an empty space. It contains the central retinal
vessels and the nerve is myelinated posterior to the sclera. It is covered
by an extension of the dural sheath from the brain.

Visual Field Examination

Eye Movements

Examination of Pupillary Reflexes

Further down the light reflex and accommodation reflex pathways are
discussed. Here the sympathetic pathway will be briefly mentioned.

The sympathetic pathway begins in the hypothalamus and travels down
the spinal cord to around the level of T1. These preganglionic sympathetic
fibres arise from the upper segment of the thoracic spinal cord and enter
the sympathetic chain through white rami commincantes, and ascend to
the superior cervical ganglion where they synapse with postganglionic
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sympathetic fibres. The postganglionic fibres are distributed along the
internal carotid artery and its branches. The postganglionic sympathetic
fibres destined for the orbit travel with the ophthalmic artery. Once in the
orbit the fibres are distributed to the eye ball either by:
Passing through the ciliary ganglion, without synapsing, and
joining the short ciliary nerves, which pass from the ganglion to
the eyeball, or
Passing along the long ciliary nerve to reach the eye ball
In the eyeball the postganglionic sympathetic fibres innervate the dilator
pupillae muscle.

Pupil abnormalities include conditions such as Horners (partial ptosis,
apparent enophthalmos and small pupils). This is a sympathetic related
condition and can be caused by a first order neuron disease (CNS disease,
cervical region) or a second order neuron disease (cervical rib, pancoast
tumour, aneurysm, lymphadenopathy, apical TB and neck trauma) or a
third order neuron disease (ICA aneurysm, migraine and idiopathic).

Another cause of pupil abnormalities is a third nerve palsy. This causes
ptosis, eyes down and out and an efferent pupil defect. Causes include
brain stem (tumour. CVA or demyelination), skull base (posterior
communicating artery, extra dural haematoma), cavernous sinus
(tumour, inflammation or cavernous-carotid fistula), orbit (tumour,
inflammation or trauma) or a vascular palsy (diabetes/BP, pupils usually
spared, self-limiting).

Adies pupil enlarged pupils, absent light response and slow near
response, may be associated with reduced tendon reflexes and usually
affects younger women.

An argyll-Robertson pupil is caused by neurosyphilis and causes small
irregular pupils and light near dissociation.

Traumatic mydriasis is due to blunt trauma and causes damage to the
sphincter iris muscle.

Posterior synechiae follows intraocular inflammation (iritis) and leads to
adhesion of the iris pigment epithelium to the lens. It causes an
irregularly shaped fixed pupil.

Refractive Error

Optometry

Vision is the level of detail an eye can see without any aid whereas visual
acuity is the best an eye can see with optical correction.
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The eyes cornea and crystalline lens are powerful optical lenses with the
cornea having 40D power and the lens have 20D. If the eye has exactly
60D power and an axial length of exactly 22.22mm then the eye has
perfect vision (in theory) and is said to be emmetropic.

Convergence is the bending of light inwards and this type of lens is a
positive lens. Divergence is the bending of light outwards and is a
negative lens.

Ametropia means some form of refractive error and can be broken down
into two main causes.

a) Axial Ametropia:
Myopia the light comes into focus in front of the retina and the axial
length is longer than average. This can be corrected with a concave
negative lens that diverges light.
Hypermetropia the light comes into focus behind the retina and the
axial length is shorter than average. This can be corrected by a convex
positive lens that converges light.

b) Refractive Ametropia:
Myopia light comes into focus behind the retina and the refractive
power is too high. Again concave negative lenses are used.
Hypermetropia the light comes into focus in front of the retina and the
refractive power is too low. Again convex positive lenses are used.

Astigmatism: this is where an eye is not completely symmetrical and
hence light rays are not evenly bent. This creates two points of focus on
the retina. A combination of cylindrical and toric lenses can be used to
correct this.

Presbyopia is the inability to focus on near objects without glasses (loss of
accommodation). This can be corrected by positive lenses.

Introduction to Ophthalmology

1. Describe the ocular anatomy and identify different ocular regions and
its supporting structures with aid of diagrams and model of the eye

The outer layer of the eye consists of the cornea anteriorly which is
continuous with the sclera. The next deeper layer is the choroid which is a
vascular layer and joins the ciliary body anteriorly (forms a 360 degree
ring around the front of the eye). The ciliary body holds the lens in place
via the suspensory ligaments. Anterior to the lens is the iris and pupil.
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Deep to this layer is the retina that is continuous across the inner surface
of the posterior of the eye and ends at the beginning of the ciliary body.

The eye can be divided into anterior and posterior segments with the
division coming at the posterior surface of the lens. The anterior segment
can be divided into an anterior chamber (in front of the iris) and a
posterior chamber (between the iris and lens).

The eyelids cover the outer surface of the eye and the upper eyelid is
much longer than the lower lid. The inner surface of the lids is covered by
conjunctiva that is folded on to the sclera at its edges. When the
conjunctiva reflects around superiorly and inferiorly is called the fornix.
The conjunctiva does not attach to the cornea and the lacrimal glands
drain into the superior fornix. Deep to the conjunctiva is the tarsal plate
and superior to it is the levator palpebrae.

The anterior surface of the cornea is stratified, squamous, non-
keratinising epithelium and the posterior surface is endothelial cells. The
bulk of the cornea is a collagen stroma with very few cells or water. This
helps to maintain the clarity of the cornea.

Surface anatomy: The lower lid should be at the junction between the
sclera and iris (limbus) whilst the upper lid should cross the cornea by
two or three mm.

Retinal blood vessels originate from the centre of the optic disc. The
larger vessels (darker) are the veins whilst the paler thinner vessels are
the arteries. They branch superiorly and inferiorly and then again to give
nasal and temporal branch. The veins are generally 1.5-2 times bigger
than the arteries of the same area. Vessels tend to avoid the central area
of the fovea and instead this area is nourished by diffusion from choroidal
and retinal blood vessels. This prevents interference to the light
resolution.

Optic disc: should be described using the three Cs (colour, contour and
cup). The cup is where optic nerve tissue is lost and hence the retinal
blood vessels are unsupported so dip into it. The normal cup disc ratio is
less than 0.4.

It should also be noted that, as in human skin colour, the fundus too
varies in colour and this is normal.

2. Describe the physiology and function of the eye and its sensory and
motor pathways

The pathway begins in the eye where the nasal side of the eye sees the
temporal field and the temporal side of the eye sees the nasal field. The
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information then passes back to the optic chiasm where 50% of fibres
cross (from the inside of the eyes temporal fields). The fibres then pass
back towards the lateral geniculate ganglion and then through the optic
radiation to the occipital cortex

Pupil light reflex: here nerve fibres from retinal ganglion cells bypass the
lateral geniculate ganglion and synapse in the pretactile nucleus. The
signal then goes to the Edinger-Westphal nucleus (some fibres cross to
the opposite side just before this to give a contralateral response). Finally
fibres reach the inferior division of the 3
rd
nerve that stimulates the
pupils.

3. Perform assessments of vision including visual acuity and visual fields

4. Understand the principles and various investigations for colour vision

Ishihara plates are generally used as a popular and effective way of
screening for colour vision defects. These are a series of plates which
have numerous coloured dots printed on. The normal sighted person will
see numbers on the majority of plates whereas a colour blind person may
struggle to see many of them. Other tests are available for a more
detailed analysis such as the city university test and the Farnsworth 100
Hue test.

5. Perform a competent clinical examination of an eye with a pen torch
and a direct ophthalmoscope

6. Interpret clinical symptoms and signs in order to make a differential
diagnosis

Conjunctivitis is not painful and there should not be corneal involvement.
The borders of the sclera can be very red and this usually originates from
the edges of the eyes to centrally.

Herpes simplex keratitis actually affects the cornea and limbus. It is
generally painful and very red, especially around the cornea. There will be
minimal discharge but substantial watering and blurring. Staining with
Fluorescein dye will show dendrite deposits on the cornea.

Corneal opacity with vascularisation can occur if HSV is treated with
steroids or not at all. This poses problems as it increases the chance of a
graft being rejected. Corneal vascularisation can also occur if contact
lenses are worn for too long as oxygen is deprived to the cornea. Hence
blood vessels grow to respond to the poor oxygen supply.

Iridocyclitis: marked redness that is uniform across the eye. The pupil is
oval and the iris is ballooned forward. This is because the pupil is stuck to
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the lens posteriorly due to inflammation. Hence the aqueous humour
cannot pass through adequately and therefore the iris is pushed forward.
On slit lamp examination inflammation cells can be seen as well as a
horizontal light beam.

Congenital cataracts generally only affect the centre of the lens so some
red reflex can be seen around the edges. However senile cataracts tend to
obscure the entire lens.

A pale (lack of blood supply) and swollen optic disc with poorly defined
margins may be a sign of giant cell arteritis and needs treating instantly.
The patient may only have perception of light and the other eye will be
affected within two weeks if the first eye is not treated. An ESR or CRP
will confirm the diagnosis and treatment is high dose steroids for several
years.

Drusen are small focal thickenings of Bruchs membrane (the layer that
the RPE retinal pigmented epithelium lies) and is one of the earliest
signs of dry macular degeneration. A widespread yellow discolouration
deep to retinal blood vessels is more indicative of wet macular
degeneration and there may be involvement of the RPE producing
pigmented areas.

Exudates appear as if salt/sugar has been sprinkled on the retina (well
defined). They represent lipoprotein material that has been deposited on
the retina due to fluid that has leaked from the vasculature.

Cotton wool spots are poorly defined and are micro infarcts of the nerve
fibre layer of the retina.

Neovascularisation is when very fine, irregularly branching, blood vessels
form on the optic disc or retina. These develop due to retinal ischemia
and are quite fragile, hence they may bleed. This is seen in proliferative
diabetic retinopathy.

Central retinal vein occlusion will appear like a yellow surface with red
splashed across it. There will be a very poorly defined, swollen optic disc
as well as cotton wool spots, flame shaped haemorrhages and dilated
tortuous veins.

AV nipping is where arteries cross veins. When the arterial wall thickens
this narrows the vein and causes some degree of occlusion.

7. Understand the importance of recognising common eye disorders and
abnormalities of ocular function and describe their management

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8. Understand the role and relationship of the diverse team of healthcare
professionals involved in ophthalmic care

9. Intellect: Promote reflective learning, problem recognition and problem
solving skills

10. Professional practice: Understand and prioritise investigations and
management of eye diseases especially common ophthalmic emergencies
and initiate subsequent referral

11. Transfer: Perform meticulous history taking and presentation and
examination of eye disorders

12. Attitude: Involve patients in management decisions

13. Attitude: Demonstrate an awareness of visual impairment and its
implications to the individual, family and society

14. Attitude: Appreciate the value and implications of registration of the
visually impaired

Gradual Visual Loss

1. Examine the patients with cataracts and understand the effect on a
patients vision and lifestyle

Cataracts are the leading cause of blindness in the world and are an
opacity of the lens. Incidence increases with age and nears 100% at the
age of 100.

2. Identify different forms of cataract and make appropriate diagnosis by
inspecting the images of cataracts given in the lecture

Common causes of cataracts include age, trauma, metabolic, toxic,
secondary, maternal infection, maternal drug ingestion or hereditary.

Long standing cataracts may have a wrinkled appearance. They are
usually deeply clouded and are due to liquefaction of the lens contents.

Total cataracts in a patient with atopic dermatitis, no eye lashes and
swollen eyelids are due to fibrotic changes.

Age related cataracts can be subcapsular (anterior or posterior) and these
patients are particularly troubled by bright light with reading vision
affected more than distance vision (for posterior cataracts). Posterior
cataracts in particular are associated with steroid use and diabetes.
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Another form is nuclear sclerotic cataracts where the patient suffers a
myopic shift (up to 3 dioptres). These are linked to smoking, calcitonin
and milk intake.

Cortical cataracts (between capsule and nucleus of lens) are opacities that
assume a radial spoke-like configuration and are usually not in the visual
axis so may produce no problems. These are related to UV exposure,
diabetes and drug ingestion.

Blue dot cataract is congenital and does not affect a patients vision.
These are small dots scattered throughout the field and can progress.
Approximately 1/3 of congenital and juvenile cataracts are inherited.

Diabetes can manifest through a cataract. In type two diabetes age
related cataracts tend to occur much earlier than normally expected.
Removing them may also give less of a good result due to some
background retinopathy. A true diabetic cataract is when there is osmotic
over hydration of the lens causing the lens capsule to become leaky. This
lets in fluid from the anterior chamber and can produce a posterior or
anterior snowflake opacity.

Cataracts can also be classified according to their maturity. These can be
immature, mature (cortex completely opaque) or hyper mature (small
and wrinkled lens material due to leaking out of material).

Traumatic cataracts are where the iris is torn away from its normal
insertion causing shrinking and damage. This needs to be sutured and
allowed to repair before reconstruction occurs. Causes include electric
shock, IR radiation, x-ray, ultraviolet and microwaves.

Other metabolic causes: galactosaemia (oil drop cataract), Wilsons
disease (red brown deposition in the cortex beneath the anterior capsule
gives a sunflower cataract), uveitis, high myopia, steroids

Systemic diseases: myotonic dystrophy (Christmas tree), Marfans, Atopic
dermatitis, neurofibromatosis type 2 etc.

3. Observe a cataract operation performed and be aware that implant
surgery can also be used to correct refractive errors at the same time

When considering surgery the following should be thought about:
Degree of disability
Patients opinion
Best correct visual acuity
Coexisting ocular pathology
General health
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Age not a contraindication
No need to wait until the cataract matures

It is also important to calculate the biometry of the lens needed for each
patient. This is largely based on the corneal diopteric power, axial length
of the eye and IOL formula. Most patients are made slightly myopic to
enable some reading vision.

Cataract operation is the most common operation done on the NHS and is
mostly done by phacoemulsification (intra/extra capsular extraction are
becoming rarer). This involves a corneal incision, capsular tear, trenching
and removal of nucleus with ultrasound tip plus irrigation and finally insert
lens and visco-elastic substance.

Complications include posterior capsule opacification (20%), vitreous loss
(4%), retinal detachment (1%) and endophthalmitis (0.1%).
Acute bacterial endophthalmitis presents as pain and marked visual loss
with an absent or poor red reflex. There is corneal haze, hypopyon and
exudates and this is largely caused by staph epidermidis, staph aureus
and pseudomonas sp.

Investigations: Ocular B scan is requested when a posterior pole
pathology is suspected but the view is obscured by a dense cataract.

4. Inspect the fundus images of macular degeneration and examine
patients with different types of age related macular degeneration

5. To assess a patient with macular degeneration and evaluate the effects
of this disease on a patients life and know how patients may be helped to
cope with poor vision

Macular degeneration typically affects patients over 70 but can occur at a
younger age. There are 15 million sufferers in the USA and 2 million in
the UK.

Dry type: gradual reduction in central vision with problems reading and
recognising faces. The presence of drusen and retinal pigmentary atrophy
are common. There is no form of treatment to restore vision and patients
are required to make use of low visual aids to cope with their disability.

Wet type (10%): rapid loss of central vision and may start with distortion
of central vision (metamorphopsia). This progresses to a central scotoma
and this can cause a profound handicap. It occurs as a result of new
vessels growing from the choroid into the macula region of the retina
causing retinal elevation which may be associated with retinal
haemorrhage and oedema. Treatment is largely unsatisfactory but laser
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photocoagulation may help. PDT therapy looks promising and there are
many other treatment under development.

Glaucoma

1. Describe the clinical features of different types of glaucoma including
the changes in the optic disc. Diagnose glaucomatous changes in the optic
disc on ophthalmoscopic examination

The aqueous fluid is produced in the ciliary body and secreted into the
posterior chamber (50% diffusion and 50% active secretion). It enters the
anterior chamber and drains via the trabecular meshwork (a 360 degree
ring where blockage most often occurs) into the canals of Schlemm, then
to the collecting channels and finally into the venous system.

The average IOP is 15.5 with a maximum of around 21 before damage
becomes a risk. However damage may occur from pressures within the
normal range.

Progressive open angle glaucoma is the commonest cause of treatable
blindness after cataracts in the developed world. 1% of over 40s and 5%
of over 75s are affected. Risk factors include raised IOP, family history
(most important), myopia, black race and diabetes.

Pathology: raised IOP +/- vascular factors lead to a loss of retinal nerve
fibres and optic disc excavation (cupping). This leads to visual field
defects, tunnel vision and blindness. This is an asymptomatic disease and
doesnt present until a patient is almost blind. Usually the condition is
asymmetrical with one eye leading the way. Regular assessment should
include IOP, visual fields and fundoscopy.

Signs include a high level of cupping and optic disc atrophy (blurring of
borders). The cup to disc ratio should be largest inferiorly then superiorly,
nasal, temporal (ISNT).

Acute angle closure: an acute high pressure eye with pain, blurred vision
and vomiting. Signs include corneal oedema, red eye and a fixed mid-
dilated pupil. Risk factors include hypermetropia and a family history.
Treatment is pilocarpine + acetazolamide, laser iridotomy or
trabeculectomy.

Pathology: lens gradually grows bigger with age and pushes the iris closer
to trabecular meshwork. At a critical point the iris will completely block off
the trabecular meshwork so drainage will cease but production of aqueous
will continue. Going to bed may help as the pupil constricts and the iris
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pulls away from the trabecular meshwork. Hence patients may have
symptoms for several weeks before the full blown attack.

Rubeotic glaucoma follows central retinal vein occlusion or diabetic
retinopathy. New vessels form and occlude the angle although this is
rarer now. Symptoms include pain and reduced vision whilst signs include
red eye, corneal oedema, rubeosis and pupil distortion.

2. Interpret the visual fields and make appropriate diagnosis

The bottom of the retina corresponds to the superior visual field.

IOP >30 blind in 3 years
IOP 25-30 blind in 6 years
IOP 21-25 blind in 15 years

3. Describe the different therapies for glaucoma and their side effects, the
importance of patient compliance and the consequences of delayed
diagnosis and treatment failure

Aim of treatment is to lower IOP:
Medically use eye drops to lower IOP
a) Prostaglandin analogues (latanoprost)
b) Beta blockers (timolol) slows down aqueous production
c) Carbonic anhydrase inhibitor (dorzolamide) slows down
aqueous production
d) Alpha agonist (brimonidine) slows down production and
increases outflow
e) Cholinergic (pilocarpine) increases outflow

Tablets can be used (carbonic anhydrase inhibitors)
Laser argon/selective laser trabeculoplasty
Surgery trabeculectomy

Side effects can lead to poor compliance:
Beta blockers cardiac and respiratory effects
Alpha agonists dizziness, syncope and allergy
Prostaglandin analogues lash growth, pigmentation
Cholinergic eye ache, dim vision
Carbonic anhydrase inhibitors taste problems, acidosis

Laser trabeculoplasty is where 50-100 shots are delivered around the
trabecular meshwork to try to increase drainage. This can be used in most
age groups and even as a primary treatment. This requires an open
angle.

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Trabeculectomy creates a controlled fistula where aqueous leaks out
under the conjunctiva. The success rate is 50-90% with an IOP
<21mmHg on no Rx. The surgery results in a drainage bleb and creates a
open pathway for infection to get into the internal aspect of the eye. This
is a risk for the rest of the patients life and is an ophthalmic emergency.
The biggest problem is failure of the treatment, especially within the first
6 months, but can occur at any stage. This is when tissue under the
conjunctiva activates and forms scar tissue. Risk factors include previous
eye surgery, black race, long term topical medications (esp. pilocarpine),
coexisting or past uveitis and diabetes (esp. with retinopathy).

Ocular Trauma

1. Conduct history taking and examination in patients with ocular trauma.
To study the general mechanism by which ocular trauma is sustained

A thorough history is important which includes the mechanism of trauma.

A foreign body should be obvious from the history and will give sudden
onset irritation and photophobia. It is important to check under the eyelid
and always beware the penetrating injury.

Chemical injury of the ocular surface can be serious and may cloud the
cornea. Treatment is needed urgently which includes irrigation with saline
(several litres). It is also important to determine what type of substance
is involved and if acidic or alkaline (much worse than acid). Both eyes
should have their pH checked for comparison and finally antibiotics,
vitamin C, steroids and mydriatics (pupil dilation) may be used.

Blunt trauma is common and can lead to peri-orbital haematoma and
associated sub-conjunctival haemorrhages. There may also be hyphaema
(blood in the anterior chamber) which should be taken seriously as it is an
indication of serious trauma. Blood cells from the hyphaema can block the
drainage angle and cause acute glaucoma (severe pain and loss of visual
acuity). Treatment for hyphaema is topical steroids (reduce inflammation)
and a mydriatic (dilate pupils). Other complications of blunt trauma are
traumatic cataracts or even subluxation/dislocation of the lens due to
rupture of the zonules. A retinal tear or detachment may also develop, if
the trauma is severe, and require immediate surgical intervention
(especially a detachment).

Extremely severe blunt trauma can cause extensive retinal haemorrhages
and potentially cause acute retinal necrosis. The haemorrhages may
result in decreased visual acuity and permanent damage to the retina.
There may also be the risk of a vitreous haemorrhage which can need
surgical intervention if the blood does not clear.
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Blow out fractures occur after blunt trauma. The globe is weakest at its
orbital floor so increased force on the orbit may force the eye through the
floor and into the maxillary sinus. This can cause restriction of eye
movements, peri-orbital swelling and potentially ocular damage. The
inferior rectus muscle can become trapped and become ischemic if
pressure is not released. When an orbital floor fracture is suspected then
an x-ray should be done to check for opacification of the maxillary sinus.
However, a negative finding does not exclude an orbital floor fracture so a
CT scan may be needed for conclusive evidence.

Penetrating eye injuries may lead to an intraocular foreign body so a
detailed history is very important to determine the exact mechanism of
trauma. The patient may not have their vision affected if minor and
foreign bodies are not always present. Most of the time patients present
with irritation or foreign body sensation. The risk of infection is generally
small but can still predispose to a sight threatening infection. An
intraocular foreign body can usually be detected by an x-ray although a
CT scan may be needed for positioning or if the foreign body is
particularly hard to spot.

2. To know the relevant aspects of the ocular examination and relevant
investigations required in a patient with ocular trauma

Investigations will include visual acuity,fundoscopy, appropriate systemic
investigations and imaging.

Low Vision and Visual Rehabilitation

1. Explain optometric reports, spectacle prescriptions and have a basic
understanding of the types of refractive errors and diagnostic tests

Causes of visual impairment: 5% of patients are children. The main
causes in children are congenital cataracts, optic atrophy, albinism,
buphthalmos, myopia and retinopathy of prematurity.

Congenital cataracts: these are harder to spot as the child cannot tell you
they cant see. However the parents should notice over the next few
weeks and photos may help with this. With children the lens cannot be
replaced so they lens is removed through a similar surgery to adults but
nothing is replaced (aphakic). Hence glasses or contact lenses are needed
to help stimulate visual development and the prescription will be fairly
strong.

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Buphthalmos is congenital glaucoma which may be present due to a
congenital abnormality that that blocks the drainage of aqueous. The
childs eye is also more flexible so can expand slightly and this will appear
bigger to an observer.

Most infants are born slightly hyperopic but those born myopic tend to
become more myopic with age as the eye tends to elongate with
development. This may need managing with lenses or glasses but
resolution will still be worse than others, even with correction.

Adults make up the rest of the patients and 25% of these are in the
employable age group. The main causes of poor vision in this group are:
diabetic retinopathy, myopia, uveitis, corneal dystrophies, macular
degenerations and retinitis pigmentosa (causes poor vision in dull lighting
and a reduction in visual fields but acuity may be unaffected).

The elderly make up 75% of patients and the major causes here are age
related macular problems (dry and wet), glaucoma, inoperable cataracts
and diabetic retinopathy/maculopathies.

Visual assessment: record distance vision unaided (and aided),
retinoscopy (holding lenses in front of eye), subjective refraction (patients
opinion on lens power), near vision assessment and unit magnification
assessment.

Unit magnification: when holding a card at the focal length of the reading
prescription in the lenses then there is no magnification so a value of 1 is
given. The patient is assessed for refraction/correction and prescription is
increased by +4.00DS. The patient views a chart at 25cm and the best
visual acuity is determined at this range e.g. N10. The patient is then
asked when size is needed for desired tasks e.g. N5. Hence a 2 times
magnification is needed.

Magnification = power / 4

With retinoscopy various lens are used to neutralise the reflection being
shined in and this allows a prescription to be calculated. With children eye
drops may be used to prevent accommodation so that child cannot
change their focal depth whilst the examination is done.

LogMAR and Snellen charts can measure visual acuity. The LogMAR test is
fairer as there is an equal number of letters per line which decrease in a
logarithmic fashion. With the Snellen chart the test becomes harder
further down as there are more letters to read.

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2. Explain the differences between soft and rigid gas permeable lenses
and give reasons behind the specific use of these in the hospital eye
service

There are many indications for using contact lenses. These include
cosmetic, visual, occupational, medical, psychological or other.

Soft lenses:
Advantages flexible, good comfort, good VA if large level of
astigmatism, large diameter incurs secure fit, safer for sport, easier
to fit, suitable for extended wear
Disadvantages split, deposition of tears, more expensive,
dehydrate if left out of solution

Rigid gas permeable lenses:
Advantages fixed shape and durable, fewer problems with
deposits, easy to clean, good for all day wear, smaller diameter
incurs less risk of hypoxia, creates smoother ocular surface
therefore better visual result for irregular corneas and high
astigmatism
Disadvantages poor initial comfort, small diameter so more prone
to fall out

3. Explain the types and application of different types of LVAs (low vision
aids) as issued in the hospital eye service.

For children: bar magnifier, dome bright magnifier, bifocals, and distance
binoculars/monoculars

For adults: hand magnifiers, stand magnifiers, illuminated HM/SM, high
reading aids (strong glasses), binoculars/monoculars and spectacle
mounted devices

Electronic devices: CCTV, compact devices, software, voice activated
devices, screen/scanner readers and Braille keyboard.

Non-optical devices: talking books/watches, large print, typoscope (black
card that masks background of page), bump-ons (sticky pad),
illumination, tinted lenses, kitchen aids and reverse contrast text.

GOS 18 form is used by optometrist to relay information to the GP and
hospital eye service. The form can be used for referral or information
purposes. The optometrist is legally meant to write to a GP, no matter
what the findings, if an eye test has been performed. Section one is by
the optometrist and section two by the GP.

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Specific referrals: LVI (letter of visual impairment), RVI (referral of visual
impairment) and CVI (certificate of visual impairment).

Visual impairment: a person who is substantially or permanently
handicapped by defective vision caused through congenital defect, injury
or illness. General guidelines suggest VA 3/60 to 6/60 or up to 6/24 with
moderate field contraction or VA 6/18 or better if severe visual field loss.

Severe visual impairment: so blind they are unable to perform work for
which sight is essential. VA less than 3/60 or VA 3/60 to 6/60 with
constricted visual fields or VA 6/60 to 6/24 with very constricted fields.

Acute Painless Loss of Vision

1. Perform examination, history taking and presentation of a patient with
APLV

Things to include in an ocular history of APVL:
Previous ocular history
Cardiovascular disease
Family history of eye disease, drugs and eye drops
Symptoms monocular or binocular
Time of event, method of becoming aware of symptoms
Change in symptoms and associated symptoms
Duration/recovery
Visual loss

Examination should include testing acuity in both eyes and visual fields.
Also check pupil reactions, anterior segment, red reflex and fundoscopy.

Investigations will vary but blood tests and imaging are the main forms.

2. Describe different types of APVL commonly found in clinical practice,
their investigations and management

Monocular causes

Acute corneal disease is usually painful but can rarely be painless (HSV)
and gives a cloudy cornea.

Anterior chamber haemorrhages are rare and cause a hyphaema. These
usually occurred previously with more primitive intra ocular lenses.
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Uveitis glaucoma haemorrhage is another cause due to surgery but is
rare.

Acute cataract is rare but can occur overnight. This can occur due to
being struck by lightning. An acute cataract can also occur over weeks if
the lens becomes porous and takes in fluid.

Vitreous haemorrhage is more common and will cause acute disturbance
of vision with substantial visual loss if fairly dense. Common causes are
proliferative diabetic retinopathy, retinal tears and posterior vitreous
detachment.

Optic neuritis or ischaemic optic neuropathy (sectoral or global) the
importance here is cranial arteritis (presents with acute visual loss, aged
over 60, has a headache, pain on chewing and combing hair, raised ESR
etc). In ischaemic neuropathy the visual defect never crosses the midline
unless there are multiple pathologies. A loss of lower vision will show
pallor in the superior aspect of the optic disc.

Retinal causes:
Branch vein occlusion
Central retinal vein occlusion
Central retinal artery occlusion
Branch retinal artery occlusion
Retinal detachment
Macular haemorrhage

Binocular causes

The optic chiasm can have pathology which includes pituitary tumours
(pituitary apoplexy a rapidly expanding pituitary tumour) and these can
be painless. On observation the eye may look fine but there should be a
bilateral afferent pupil defect.

The optic nerve can be affected by infiltrative diseases, severe
papilloedema and optic neuritis (such as sarcoid).

Cortex migraine which is more common with age (35+) (temporary
scintillating scotoma just off to left or right of central vision) or CVA
(occipital lobe homonymous hemianopia).

Retinal causes

Branch retinal vein occlusion is a variable degree of central vision on
waking in the morning. Examination will show nothing except retinal signs
(variable degree of haemorrhage with cotton wool spots that are limited
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to one sector of the retina). Commonest causes are high BP and irregular
things in the blood so test ESR, FBC and glucose. This is not an
emergency so refer to outpatients. Diagnosis is generally not good, if
extensive, and there is the risk of development of new blood vessels in
the future (i.e. in diabetic retinopathy). If it is mild then there is a
generally good prognosis resolution and development of collaterals.

Central retinal vein occlusion again is present on waking but affects all
of vision and not just the central part. Acuity will vary from 6/6 to CF and
may have RAPD if severe. There are variable retinal signs from a few
haemorrhages to extensive haemorrhages. The opposite eye should be
examined for the optic disc to check for raised IOP. Investigations include
BP, bloods and IOP. Referral should be to eye casualty as new treatments
are beneficial in the early stages.

Complications: permanent severe visual loss and Rubeotic glaucoma
(rubeosis occurs, which is the development of new vessels on the iris, and
block the drainage angle). Pan retinal photocoagulation is needed to stop
the new blood vessels forming. An RAPD is a good sign of this risk.

Central retinal artery occlusion can lead to an absolute loss of vision
down to no perception of light. It is important to ask the patient if they
have had previous events where the vision has temporarily gone. They
may describe it as a curtain going down over the eye. The acuity will be
CF to NPL and there will be an APD or RAPD depending on visual
perception. Signs include retinal oedema, cherry red spot in the macula,
emboli in the retinal arterioles and carotid bruits on neck. Investigations
include BP. Treatment in primary care includes rebreathe into paper (not
plastic) bag to raise CO2 and dilate vessels to move emboli. Ocular
massage may help remove the emboli. In secondary care an ESR (for
arteritis), carotid ultrasound and cardiac echo should be done. Treatment
here is similar and includes using acetazolamide and paracentesis (needle
to lower IOP suddenly). Refer to eye casualty as max 12 hours until retina
dies.

Branch retinal artery occlusion occurs at any time and can be sectoral
or central. Acuity is from 6/5 to CF and may have RAPD, carotid bruits,
field defects and an embolus on fundoscopy. May also be signs of
hypertensive retinopathy (AV nipping and flame shaped haemorrhages).
Investigations include BP, carotid ultrasound, bloods and cardiac echo.
Referral should be to eye casualty for confirmation and onward referral for
investigations and treatment.

Retinal detachment/vitreous haemorrhage provides a history of floaters
and flashes followed by field loss. Acuity is normal if macula is attached
but may have a field loss of variable pattern depending on amount of
retina detached. If sufficient retina is detached then there will be a RAPD.
Page | 478

The red reflex will be abnormal. Nothing should be done in primary care
and referred directly to eye casualty.

This all occurs due to the aging process, particularly in short sighted eyes.
The vitreous becomes degenerate with age and breaks down into pockets
of fluid (from gel) and these coalesce. At some point the vitreous
detaches from the posterior of the eye (it is very well attached anteriorly
so will not come off here). This brings with it some tissue from the optic
nerve head and may cause a vitreous haemorrhage. In most people this
is a benign event and the floaters will settle. However, in some cases the
retina may be torn if there is an abnormal attachment. Here fluid from the
vitreous can get through the tear and peel off the rest of the retinal
epithelium. This occurs particularly quickly if they are superiorly (gravity)
but may be slow if inferiorly (weeks to years). On the red reflex part of it
will be disturbed by the retina.

Macular haemorrhage (AMD, diabetic retinopathy and macroanneurysm)
will present with a history acute visual loss and distortion with a positive
scotoma (black blob). Acuity can vary from good to poor and there will be
no RAPD in the absence of other eye disease as the remaining retina can
still fire. The peripheral field will be good and on fundoscopy there will be
a variable amount (minor to massive) of central haemorrhage. There may
also be signs of primary disease. Investigations should include BP and
referral should be to eye casualty.

Acute Red Eye

1. Recognise the different causes of red eyes and their management

The major two causes of red eyes are haemorrhage and congestion
(localised or generalised conjunctival and ciliary).

Haemorrhage can be subconjunctival or retrobulbar. It is usually
subconjunctival and the posterior edge of the blood patch is visible.
Occasionally it may be retrobulbar and the posterior edge is not visible.
Ptosis, restricted eye movements, raised pressure and pupil reaction are
all complications of retrobulbar haemorrhage and can lead to optic nerve
compression and blindness (emergency).

Subconjunctival haemorrhage usually innocuous and happen in all
patients. They occur after surgery, during increased pressure (breathing
disorders or URTI), patients on aspirin or warfarin and sometimes it is due
to trauma. They are asymptomatic when it happens but a sharp pain may
be felt. They can then tract down and shift with gravity.

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Retrobulbar haemorrhage very homogenous red discolouration and red
vessels are not visible. The posterior border is not visible. The main cause
is iatrogenic (injection of anaesthetic) and the second main cause is
trauma (head injury or optic floor fracture).

Haemorrhage due to congestion/vascular engorgement. This can be
localised such as with episcleritis and phlyctenular conjunctivitis, or
generalised as with conjunctivitis, keratitis, uveitis and acute glaucoma.

Episcleritis is a localised inflammation of the episcleral tissue which is
usually autoimmune / immune based in nature and is common in collagen
vascular disease and rheumatoid arthritis. The pain is mild and does not
affect sight. It can be treated with non-steroidal or steroidal eye drops or
even NSAIDS. If pain is severe then the infection is more likely to be
scleritis which is more severe.

Conjunctival congestion generalised so where is the redness? This can
be split to two broad types, the conjunctival congestion and
ciliary/circumcorneal congestion.

Conjunctival congestion in the conjunctival fornices and are superficial
vessels. The colour is bright red and will blanch with topical
vasoconstrictors. It will move with conjunctival folds and there is
centripetal blood flow (from periphery to cornea).

Ciliary/circumcorneal congestion is predominantly around the cornea. It
originates from deeper anterior ciliary vessels and hence is dusky red in
colour. It will not blanch with vasoconstrictors or move with conjunctival
folds. The blood flow is centrifugal (from cornea outwards).

2. To distinguish the different causes of a red eye and know e.g. different
features between a viral, chlamydial and bacterial conjunctivitis.

Conjunctivitis is mainly caused by a virus, bacteria or allergy.
Viral gritty eyes, watery discharge, follicles (non specific
inflammation) and lymph nodes
Bacterial gritty eyes, purulent discharge and lymph nodes
Allergic itchy eyes, stringy discharge, papillae (non specific
inflammation) and no lymph nodes
Note that lymph drains to the pre auricular nodes from the lateral half of
the eye and to the submandibular glands from the medial half of the eye.

The commonest cause of neonatal conjunctivitis is gonococcal and is very
serious. This can lead to blindness if not treated. In the western world
Chlamydia is the commonest cause of this.

Follicles are a collection of lymphocytes where as papillae are not.
Page | 480

3. Describe various common viral corneal infections such as herpes
simplex keratitis and adenoviral conjunctivitis

Any form of corneal involvement will give a triple response: blanching,
dilation and exudation. The cornea is avascular but extremely sensitive so
the vessels around the cornea will show dilation. This may be a foreign
body, trauma or keratitis (viral, bacterial or immune mediated).

A dendritic ulcer is squiggly and branching in appearance and is a sign of
herpes simplex keratitis (99% of time). This is the most common cause of
infectious corneal involvement in the western world. Treatment is with
acyclovir ointment. The problem is the body mounts an immune response
to the antigen so the condition keeps coming back. This is usually
unilateral and needs treating with steroids.

Chronic ulcers are associated with tissue necrosis in the epithelium or
underlying stroma. They do not have to be infective but can be very red
with blood vessels growing into the centre. Poor contact lens hygiene can
cause this.

Hypopyon is a level of sterile pus from the iris that is due to toxins
released from the ulcer. This builds in the anterior chamber and is visible
to the naked eye.

Uveitis inflammation of the iris and ciliary body. Produces keratic
precipitates (deposits of cells on back of cornea), constricted pupil,
synechiae (iris adhesion to lens or cornea) and is usually unknown
aetiology. Treatment is to dilate the pupil here (opposite to what the
disease does) along with a steroid (immune mediated). Dilation of the
pupil may reveal papillary adhesions.

Acute angle closure glaucoma causes headache, nausea, vomiting,
reduced vision, halos, red eye, corneal haze (oedema) and a fixed mid-
dilated pupil.

Sign Conjunctivitis Keratitis Uveitis Acute Glaucoma
Vision Normal Impaired Impaired Poor
Redness Conjunctival Ciliary Ciliary Ciliary
Pupil Normal Constricted Constricted Dilated
Discharge Yes Yes No No
Pain Discomfort Moderate to
severe
Ache Severe

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4. Understand the adverse effects if topical steroid therapy on herpetic
corneal infections

Treating the immune manifestations of the virus with steroids will dampen
the immune system and increases the risk of herpes re-infection. Hence
use acyclovir with steroids.

Neuro-ophthalmology

1. List and discuss importance causes of optic disc swelling

The disc margin is ill defined with haemorrhages at the edge of the disc.
The disc itself remains pink and the cup is not enlarged but can be hard to
see. Differentials of an optic disc swelling are optic neuritis, papilloedema
(has to be bilateral), malignant hypertension, arteritic anterior ischaemic
optic neuropathy (aion) and non-arteritic aion.

Optic neuritis produces a swollen disc and the margin is blurred with a
pink colour and normal cup. The patient (young to middle age) will
complain of blurring of vision and a dull ache, especially on eye
movement. On assessment visual will be reduced centrally along with
para-central scotoma or an enlarged blind spot. If the inflammation of the
optic nerve is further back then the optic disc may not be swollen
(retrobulbar neuritis). There is a RAPD and a desaturation of red colour
vision. There is the risk of other transient neurological symptoms such as
an increase in blurring with exercise, or a tingling sensation in the fingers
or toes. There is a risk of MS if this is a repeat episode so an MRI is
needed.

Papilloedema means swelling of the optic discs due to increased
intracranial pressure (therefore must be bilateral). The only occasion that
it may be unilateral is if the patient has developed optic atrophy in one
eye previously. The patient will complain of transient blurring of vision
and may also have headaches. Retinal signs may include splinter
haemorrhages, exudates, cotton wool spots and retinal folds. There will
be bilaterally enlarged blind spots (early) and a gradual progressive field
loss (late) (generalised constriction). Eventually there are irreversible
atrophic changes.

Arteritic anterior ischaemic optic neuropathy (AION) means there is
inflammation of the arteries to the optic disc which causes infarction. This
is giant cell/temporal arteritis where inflammation of the temporal arteries
causes occlusion of the vascular supply to the optic nerve and it hence
gets infracted. Before this happens there will be a temporal headache and
jaw claudication (due to jaw ischemia). The patient may lose weight and
will have aches all over the body. Visual loss here is caused by an
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inflammatory infarction of the posterior ciliary artery. ESR and CRP are
significantly raised. Urgent high dose steroid (1-1.5mg per kg but usually
80mg) treatment is needed or the other eye will go in 2-3 weeks. A
temporal artery biopsy is needed within one week of starting treatment to
give a conclusive diagnosis. Treatment should continue for at least 2
years.
On fundoscopy the disk is pale/white and the margins are blurred. The
cup is obliterated and will not be seen. The rest of the fundus may also
have some pallor.

Non-arteritic aion is caused by a swollen artery, usually due to
atherosclerosis. This causes obliteration of the lumen of the posterior
ciliary arteries and the optic nerve gets infracted. However the swelling is
not as gross as with giant cell arteritis and the visual impairment is
usually not as extensive. Usually only half the disc gets infracted (top or
bottom). ESR is not raised as it is non inflammatory. 50% of patients will
be hypertensive and many other patients will be diabetic. There are no
systemic symptoms. Treatment here is low dose aspirin.

Optic atrophy means the optic nerve is atrophic and pale. There is loss of
the surface capillaries of the optic disc and it is associated with a RAPD.
Anything that causes a disruption of the blood supply to the optic nerve,
or compression of it, will produce optic atrophy.

2. Describe the actions of the extraocular muscles and their involvement
in cranial nerve palsies

There are six extraocular muscles. Four are controlled by the third nerve
(SR, MR, IR and IO), one is controlled by the fourth nerve (SO) and one is
controlled by the sixth nerve (LR).

Third nerve palsy: affect the SR, MR, IR, IO, levator palpebrae superioris
and intraocular pupil muscles. The SO and LR are spared so the eye will
look down and out. There will be ptosis, a dilated pupil (efferent defect)
but no APD.

Fourth nerve palsy: affects the SO. Eye is unable to look down and in on
the affected side. Hence vertical diplopia is most marked on looking down
and in. Bilateral cases may occur with head injury.

Sixth nerve palsy: affects the LR. This causes an inability to abduct the
affected eye so it may drift to the medial side.

Seventh nerve palsy: this supplies the muscles of facial expression
including those that close the eye. Hence a palsy here means the affected
eye cannot be closed and tear coverage will be reduced. This causes a dry
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cornea and exposure keratitis. Here corneal sensation should be tested
along with Bells phenomenon (patients eyeballs roll up when eyes are
closed to protect cornea - normal).

3. Outline the anatomy of the pupil reflex pathways and common
abnormalities associated with the same

Pupils can have various pathologies: RAPD/APD, adies pupil, Argyll
Robertson pupil, third nerve palsy, Horners syndrome and light-near
dissociation.

The pupils normally act together. Light stimulates the retinal ganglion
cells after reaching the light receptors. This goes to the pre tactile nucleus
and then signals are sent to the Edinger-Westphal nucleus on the same
and contralateral side.
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Similarly both pupils constrict when looking at something close.
Information is sent from area 19 bilaterally to both EWN. Hence vision is
not necessary for this near reflex to occur.

APD: Here there is disruption of fibres travelling from the RGC to PTN and
from the PTN to the same and contralateral sided EWN. The afferent
pathway is from the retina up to the EWN. However pathology usually
affects the retina or optic nerve.

RAPD: This is similar to APD but is not complete so a minimal response
will be noticed. A swinging torch test can be done here which will show
maximal constriction in both eyes when shined on the good eye, and a
slight dilation in both eyes when shined on the bad eye.

In summary:
APD: no consensual or direct response
RAPD: reduced light and consensual response, pupil dilates on the
swinging light test

The efferent pathway starts from the EWN and includes the inferior
division of the third nerve, pupil and ciliary body.

A third nerve palsy here will mean the affected pupil is larger than
normal, there will be an efferent papillary defect, the pupil inequality is
more obvious in bright light, complete ptosis and the eye will look down
and out.

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Horners Syndrome means there is a lesion affecting the sympathetic
supply to the eyes. The affect pupil is smaller than normal and there is
some ptosis. The pupil inequality is more pronounced in the dark. The
patient may have a neck scar (pathology to sympathetic chain), partial
ptosis and their eyes may appear to be sunken in (apparent
enophthalmos). Alternatively the patient may have had the sympathetic
chain disrupted by an apical lung tumour (pancoast tumour).

Argyll Robertson pupils is due to tertiary syphilis (neurosyphilis affecting
the midbrain). The pupils are often small and irregular (both affected and
maybe asymmetry between the two) and there is a sluggish response to
light. There will be light-near dissociation and the patient may be blind
from optic atrophy. This was usually seen in 60-70 year old patients but
syphilis is now on the rise. Syphilis can present with uveitis.

Light-near dissociation is a negative reaction to light but a positive
reaction to accommodation. All pathologies causing this will be of the
brain stem.

Just to clarify. When the fibres leave the EWN and enter the inferior
division they enter the ciliary ganglion. This is responsible for pupil
constriction and for the ciliaris muscle which contracts, releasing the
tension of the zonular fibres and making the lens more convex
(accommodation). Hence any pathology before here would affect both the
accommodation and pupil response. The long ciliary nerve controls the
dilator papillary muscles.

Adies Pupil is a unilateral dilated pupil in an otherwise health patient. It
occurs in typically young women and is associated with a poor pupil
response to light and a slow response to accommodation. It is thought to
be due to a viral/bacterial infection of the ciliary ganglion and autonomic
system.

Common Medical Retinal Diseases

1. Inspect the fundus images of diabetic retinopathy and macular
degeneration and diagnose different grades of the disease

Age related macular degeneration typically affects those over 50 and
leads to a progressive central visual loss. It is usually bilaterally, even if
one eye is involved initially, and is the commonest cause of visual loss of
over 50 year olds.

There are two types of MD; wet and dry.
Dry (atrophic) due to atrophy of the photoreceptors in the retinal
pigment epithelium. It starts with atrophy of the RPE and inner
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choroid and leads to death of photoreceptors. Drusens (soft
thickenings of Bruchs membrane) occur and are responsible for the
mentioned changes. This type is responsible for 90% of cases of
AMD but only 10-20% of severe visual loss in AMD.
Wet (neovascular) due to abnormal vessels growing from the
choroid (neovascularisation) and underneath the retina. These
vessels bleed and leak fluid which subsequently leaks and result in
scar formation. This subtype is responsible for around 10-20% of
cases but accounts for 80-90% of severe visual loss in AMD.

Development of drusen:
The RPE is located between the choroidal layer and the photoreceptors.
Between the RPE and choroid is Bruchs membrane. In drusens there is a
focal thickening of Bruchs membrane which separates the photoreceptors
from the choroid and hence their blood supply.

With wet AMD there is the development of abnormal vessels underneath
the choroid that tend to bleed/leak under the photographic film. This is
very aggressive and leads to significant scar formation. Blood vessels can
be seen over the fibrous scar tissue. Here the vessels proliferate and
penetrate the choroid, drusen and into the tissue under the RPE and
photoreceptors. These new vessels are fragile so tend to bleed and it is
this bleeding that causes the subsequent problems.

Visual perception there will be a blind spot in the central vision and a
distortion of vision (clearly shown when looking at a grid of lines).

Risk factors: age, smoking, CVD (hypertension or hyperlipidemia) and low
antioxidants in the blood.

Diabetic Retinopathy

Diabetes affects about 4% of the UK population and is the commonest
cause of blindness in the working population (20-65). Most of this
blindness is preventable but sadly diabetics are 25 times more likely to go
blind than someone who is not diabetic.

Diabetic retinopathy is essentially a retinal vasculopathy and affects the
retinal precapillary arterioles, capillaries and venules. Resulting retinal
disease may be vascular leakage and/or closure and sequelae. Sequelae
related to VEGF and other factors released into the retina. The incidence
of DR is most related to the duration of DM.

Risk factors include: duration of DM, age, smoking, hypertension, poor
DM control, hyperlipidemia, renal impairment and pregnancy.

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There are two types of DR: background or proliferative retinopathy.
Background means there are no new blood vessels developing whereas in
the proliferative type new blood vessels are growing. Diabetic
maculopathy can occur with either type (where the central retina is
affected).

NPDR asymptomatic and occurs after 8-10 years of DM whether well
controlled or not. It can however be mild, moderate or severe depending
on the other risk factors. It clinically manifests as microaneurysms,
exudates, retinal haemorrhages, cotton wool spots, vascular dilatations
and calibre variations and intraretinal microvascular abnormalities
(IRMA).

Microaneurysms are focal dilatations of retinal capillaries which may
leak and are usually temporal to the macula.
Haemorrhages can be dots (small) or blots (large) from the venous
end of retinal capillaries, deep in the retina. Flame shaped
haemorrhages (more from arterial side) located in the nerve fibre
layer can also occur.
Exudates are yellowish-white deposits with well defined edges and
represent precipitation of leaking lipoproteins from diseased retinal
vasculature.
Cotton wool spots (CWS) are greyish white poorly defined fluffy
edged lesions in the nerve fibre layer. They represent microinfarcts
in the retinal nerve fibres (axoplasmic accumulations).

Severe NPDR consists of a large number of dark haemorrhages, irregular
calibre variation (beading) and dilatation of retinal veins and intraretinal
microvascular abnormalities (IRMA). Most patients with severe NPDR will
progress to PDR within 12 months.

Proliferative diabetic retinopathy occurs in about 5% of DM. It is more
common in type 1 than type 2 DM. It is characterised by the development
of new blood vessels on the optic disc or surface of the retina. It occurs as
a response to significant retinal ischemia. Initially the neovascularisations
(NV) appear as small tuffs of irregular ramifying vasculature arising from
veins. They are initially flat but enlarge and move forward into the
vitreous. The NVs are fragile and are likely to bleed with slight traction
resulting in pre-retinal and/or vitreous haemorrhage.

Late changes of PDR include retinal fibrosis and traction retinal
detachment. This will lead to VEGF entering the anterior segment of the
eye and causing rubeosis iridis and neovascular glaucoma.

Diabetic maculopathy is a specific type of DR and affects the macula. It
can occur in proliferative or non-proliferative DR. It is more common in
type 2 DM but can occur in either. It leads to visual loss if untreated.
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Three types may occur in different combinations: focal, diffuse or
ischaemic. If it is focal leakage from microaneurysms or dilated capillaries
then there will be focal retinal thickening and surrounding exudates.
Diffuse on the other hand is leaking from dilated capillaries which results
in a diffuse retinal oedema which may be associated with some retinal
haemorrhages but usually no exudates. The ischaemic type is due to
closure of the perifoveal capillary network and manifests as a diffuse
oedema plus associated dark haemorrhages. Fluorescein angiography is
important in confirming ischemia.

Finally diabetes can affect other parts of the eye:
Increased incidence of eyelid infections and cataracts
Cranial nerve palsies of 3,4 and 6
Delayed healing of corneal abrasions and corneal ulcers
More severe post-operative intraocular inflammation
Abnormal wound healing

2. Perform examination of the patients with different grades of diabetic
retinopathy for diagnosis and suggest management

Managing AMD firstly evaluate so measure VA, check reading speed
(will be reduced), check contrast sensitivity (a bright environment will
cause problems) and central visual field-Amsler.

The location of the choroidal new vessels in relation to the centre of the
fovea is important for laser treatment. Extrafoveal > 200u from centre,
Juxtafoveal > 1-199u from centre or subfoveal.

The leakage type can also be classified as classical (normal pattern),
occult (not obvious) or mixed. The original treatment was burning the
new vessels with laser therapy. Laser photocoagulation is a non-selective
thermal laser which destroys the choroidal neovascular lesions and can
also damage the overlying retina. Eligibility is for Extrafoveal or
Juxtafoveal lesions, presence of classical CVN and well demarcated lesion
boundaries. About 13-26% of patients of eligible for treatment but
leakage persists/recurs in 50%.

Alternative treatments for wet AMD includes surgery (submacular excision
of CNV - didnt work, and macular rotation 80% recurrence with high
rejection rate), radiotherapy (less used), PDT (currently used) and
pharmacological agents.

Modern treatment aim to antagonise VEGF (vascular endothelial growth
factor) and drugs include Macugen (isoform 165) and Lucentis (all
isoforms). However VEGF is neuroprotective so cant be use permanently
and whatever is injected into the eye wont last too long (4-6 weeks).
Another treatment is Triamcinolone (long acting steroid) which causes
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anti-permeability and anti-inflammatory but only mildly anti-angiogenic.
Side effects of the steroid include cataracts and increased IOP.
Combination treatment can be used.

Diabetic Retinopathy

Management consists of controlling the diabetes and its risk factors. Laser
photocoagulation can be used for NV and in the future anti-VEGF may be
used. Focal lasers are used to stop focal leaks where as a grid laser is
used in diffuse macular oedema but neither of these can be used for
ischaemic subtypes. Mixed maculopathies require combined strategies
and pan-retinal photocoagulation (PRP) is the recommended treatment for
PDR.

3. Assess a patient with diabetic retinopathy and macular degeneration
and evaluate the effects of this disease on a patients life and know how
patients may be helped to cope with poor vision

Problems with AMD: increased risk of falling, difficulty shopping;
managing money; preparing meals; using phone; doing housework and
many suffer from emotional distress and depression. There is a high use
of healthcare and community health services. Many patients may feel
suicidal and as a result there is a high use of anti depressants. More likely
to be dependent, live alone and injure themselves.

If patients cannot be treated then they can be registered as blind and
referred to the LVA (low visual aid) clinic. Support groups and societies
may be useful.

Orthoptics

1. Understand the basic terminology relating to squints, refractive error,
visual acuity, ocular movements and diplopia

Binocular vision is the brains ability to perceive an image with each eye as
a single image. The three principles of this are simultaneous perception,
fusion and stereopsis (depth perception).

Squints are also termed strabismus and there are two main subtypes. The
first is a manifest squint (tropia) which is an obviously visible inward,
outward, upward or downward deviation of one eye. The second is a
latent squint (phoria) that the tendency of one eye to deviate under
certain circumstances.

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With manifest squints the majority of adults will get diplopia (double
vision) because they are looking at two different things. Children are very
adaptable so can learn to suppress the troublesome eye.

Amblyopia is a reduction of vision in one eye due to a lack of stimulation
during the critical period of visual development. This can be for three
reasons: stimulus deprivation, strabismic (squint) or anisometropic (large
different in refractive errors of over 1 dioptre eye with highest refractive
error is affected).

Amblyopia can be treated and reversed if treated within the critical period
(<7 years). Treatment is occlusion of the good eye and the most common
form is using a patch.
Squints are usually managed by the correction of refractive error. Convex
lenses (long sighted) help convergent deviations and concave lenses
(short sighted) help divergent deviations. If this fails then surgery is an
option and this involves moving and changing the length of the
extraocular muscles.

Testing for strabismus is done by the cover and alternative cover tests.
The cover test checks for manifest squints and involves covering one eye
and then removing the cover. When the normal eye is covered the bad
eye will correct itself (and under the card the good eye will deviate).
When the card is removed the good eye will return to its normal place and
the bad eye will deviate again.
The alternative cover test is to check for latent squint and involves
covering one eye and then the other in quick succession. The covered eye
will deviate under the card and will return to the normal position when
uncovered.

2. Explain in basic terms the visual development periods and why visual
acuity is test or screened in young children

Visual acuity is important to test for in children. However they usually
cannot be tested by the conventional ways in which adults are due to a
lack of speech or education. Here there are a variety of tests that can be
used:
Preferential looks this is where a card is held up with a pattern on
one side and a blank space on the other. This is useful for a very
young child and shows they have some form of sight. The user can
look though the centre dot to see where the child looks. The stripes
also get thinner and thinner to give a form of grading.
Cardiff cards cards with the same picture on at the top or bottom
of the card. The child will then look up or down. The picture will get
smaller and less defined on a grading system.
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Kays pictures this is a picture form of the Snellen chart which can
be used when a child can verbalise what the picture are off. Again
these get smaller in a graded way.
LogMAR crowded and uncrowded useful when a child can read
letters. The crowded test is usually done as uncrowded tests can be
easier. In the crowded test the letters are together in a line,
surrounded by a box.
Bailey Lovie the proper LogMAR chart. This varies from Snellen as
there is the same number of letters per line to make it a fairer test.
With Snellens it is an easier test if you have poor vision and a
harder test if you have good vision.

Snellens vision is recorded as a fraction with the numerator being the
distance and the denominator being the line of text read. With LogMAR
with visual acuity is recorded as a decimal with 0 being normal and 1
being 6/60 so higher is worse vision. A negative number is better than
normal.

3. Understand the extraocular muscle anatomy and why the muscles have
primary, secondary and tertiary actions

Types of squints:
Concomitant strabismus a strabismus that remains the same in all
positions of gaze
Incomitant strabismus a strabismus that changes in different
positions of gaze and is due to an extraocular muscle imbalance.

Ocular movements:
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It is important to remember that the extraocular muscles do not work in
isolation and they have secondary and tertiary actions. But for simplicity
it is only necessary to know the primary actions but we can be tested on
secondary and tertiary actions.

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MR and LR insert horizontally onto the globe so their action is
simple.
SR inserts at an angle of 23
o
to medial wall of orbit and does
elevation, intorsion and adduction
IR inserts at angle of 23
o
depression, extorsion and adduction
SO inserts at an angle of 51
o
intorsion, depression and abduction
IO inserts at an angle of 51
o
extorsion, elevation and abduction

Innervation:
3
rd
is SR, MR, IR and IO
4
th
is SO
6
th
is LR

Third nerve also innervates pupils and upper eye lid

Managing diplopia: prisms, occlusion or surgery

4. Explain the effect of having a squint in a child and in an adult

5. Explain the features of third, fourth and sixth cranial nerve palsies

Aetiology of nerve palsies: trauma, tumour, vascular, inflammatory or
infection. With children nerve palsies are never normal and they either
have a tumour or traumatic aetiology.
Page | 494

Causes of mobility defects: mechanical conditions such as blow out
fractures or thyroid eye disease, or myogenic conditions such as tumour,
inflammation, disease of EOM and myasthenia gravis.

6. Understand the role of the orthoptist

The definition of orthoptics is straight eyes. The profession is involved
with the diagnosis and management of binocular vision and ocular motility
disorders.

Orbital Disease (not very useful)

1. Describe the clinical features of orbital disease and investigations for
the same

The bony orbit is pyramidal in shape and can be separated into four
zones:
Roof (2 bones) Frontal bone and less wing of sphenoid
Lateral wall (2 bones) Zygomatic bone and greater wing of
sphenoid
Floor (3 bones) Zygomatic bone, maxillary and palatine
Medial wall (4 bones) Maxillary, lacrimal, ethmoid and sphenoid
bones

There are a huge number of signs and symptoms that can affect the orbit
and they include:
Signs soft tissue involvement, proptosis, enophthalmos,
ophthalmoplegia, visual dysfunction, dynamic changes and fundus
changes
Symptoms double vision, pain, discomfort and decreased vision

Tissue involvement includes lid and periorbital oedema, ptosis and
conjunctival swelling due to inflammation or vascular abnormalities.

Proptosis is the abnormal protrusion of the globe externally and can be
intra/extraconal. Pseudoproptosis may occur with high myopia or
contralateral enophthalmos. Causes include thyroid eye disease, tumours,
inflammation and infection.

Enophthalmos is a condition in which the globe is recessed within the
orbit. Causes include a small globe, structural abnormalities (e.g. blow
out fracture) or atrophy of the orbital contents (irradiation or
scleroderma).

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Ophthalmoplegia is restriction or disability of the ocular muscles. Common
causes include tumour, restrictive myopathy, ocular motor nerve lesions
and trauma (blow out fracture).

Dynamic properties of the eye included increased venous pressure
(thyroid eye disease or vascular problems) and pulsation (AV
communication or defect in orbital floor and CSF pulsation). Bruits may be
heard with the ball of a stethoscope.

Fundus changes include optic disc changes (disc swelling, atrophy,
shunts), choroidal folds and retinal vascular changes.

Thyroid eye disease is an autoimmune disorder that exhibits a wide range
of ocular manifestations. Eye lid retraction and periorbital oedema are the
most common clinical signs. Exophthalmos (proptosis) occurs in a third of
patients. Diplopia occurs in 5-10% and compression of the optic nerve is
rare. These conditions may lead to an exposure keratopathy. Soft tissue
involvement includes eyelid erythema, conjunctival injection, chemosis,
swelling of the caruncle and eyelid oedema. Lid lag is also seen when
following a target from a superior to inferior position.

Exophthalmos is the most common cause of uni and bilateral proptosis
and is permanent in 70% of cases.

Optic neuropathy affects about 5% of patients and can happen in the
absence of significant proptosis. The doctor should perform a CT scan and
assess VA, colour vision, papillary reactions, visual fields and fundoscopy.

Up to 50% of patients will have a permanent diplopia caused by a
restrictive myopathy. Oedema is the causes in active stages and fibrosis
in later stages. The muscles affected in order of frequency are inferior
rectus, media rectus, superior rectus and finally lateral rectus.

Infectious and Inflammatory orbital conditions

Orbital cellulitis is an infection located behind the orbital septum and
patients present with severe malaise, fever and orbital signs. Signs
include severe orbital oedema, redness, ptosis, painful ophthalmoplegia
and optic nerve dysfunction if advanced. Complications include optic
neuropathy and abscess formation. In severe cases this can lead to
infection of the cranial cavity.

Idiopathic orbital inflammatory disease (IOID) is a non-neoplastic, non-
infectious orbital lesion and can involve any soft tissue component.
Presentation is typically between 20-50 years and with an abrupt painful
onset. It is usually unilateral with proptosis, chemosis, periorbital swelling
and ophthalmoplegia. This is a diagnosis of exclusion.
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Vascular Orbital Disorders

Orbital venous abnormalities and carotid-cavernous fistula are the two
main conditions. Orbital varices are congenital, and usually unilateral,
which may bleed or become thrombosed. These patients will demonstrate
intermittent proptosis accentuated by the valsalva manoeuvre.

Direct - Fistulas are abnormal communications between the carotid artery
and cavernous sinus. This is a high velocity flow shunt and causes include
head trauma or spontaneous rupture. Features are ptosis, chemosis,
conjunctival injection, ophthalmoplegia and raise IOP. These patients
have a pulsatile proptosis with bruit and thrill. This can be abolished by
ipsilateral carotid compression. There is retinal venous congestion and
haemorrhage.

Indirect Fistulas are abnormal indirect communications between
meningeal branches of the internal carotids and the cavernous sinus.
These are mostly congenital or spontaneous rupture and patients present
with dilated episcleral vessels, raised IOP and occasional ophthalmoplegia
and mild proptosis.

Encephaloceles are a herniation of intracranial contents through the
congenital skull defect. A meningocele contains only dura and a
meningoencephalocele contains dura and brain tissue. The CSF will cause
a pulsatile proptosis without bruit.

Tumours that may affect the orbit include vascular, lacrimal gland, neural
and miscellaneous tumours.

Capillary haemangiomas are the most common orbital tumour in children
with 30% present a birth and 100% present by 6 months of age. These
tumours may enlarge on coughing or straining. These are associated with
systemic conditions (high output cardiac failure, Maffuci syndrome etc)
and are treated with steroid injections, systemic steroids and local
resection if possible. Growth is during the 1
st
year and 70% have resolved
by age 7.

Cavernous haemangiomas are the most common adult orbital benign
tumour and are found just behind the globe. They are most common in
women 40-60 and treatment is surgical excision.

Pleomorphic lacrimal gland adenomas present in the 4
th
to 5
th
decades
and are painless and slow growing. These tumours are well encapsulated
so can be surgically removed.

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Lacrimal gland carcinomas present in the 4
th
to 6
th
decades and have a
very poor prognosis. They are painful and grow rapidly. Diagnosis is by
biopsy and treatment is radical surgery and radiotherapy.

Optic nerve gliomas typically affect young girls and are associated with
NF-1. Present at end of 1
st
decade with gradual visual loss. Slow growing
lesions can be observed but excision is necessary if affecting vision or
cosmesis.

Optic nerve sheath meningioma typically affects middle aged women and
causes gradual visual loss to due optic nerve compression. Treatment
depends on the tumour but excision and radiotherapy may be necessary.

Finally metastatic tumours can spread to the orbit and the common sites
are from the: breast, bronchus, prostate, skin melanoma, GI tract and
kidney.

2. Evaluate the management of common orbital diseases

Orbital cellulitis is managed with hospital admission and intensive
systemic antibiotic therapy. It is important to monitor optic nerve
function. Indications for surgery include resistance to antibiotics, orbital
or subperiosteal abscess or optic neuropathy.

IOID has a varying outcome from mild to severe and treatment involves
steroid therapy, radiotherapy and cytotoxic usage. Severe prolonged
activity leads to a frozen orbit.

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Obstetrics and Gynaecology Topics and Topic Outcomes

Gynaecology

Chapter 3 History and Examination

Gynaecological history
This should follow the usual model for history taking with questions about
presenting complaint, its history and associated problems. It should
include a past medical history and information about medication used and
allergies. After questions about social circumstances and activities, and
family history, the history is completed by a general systemic enquiry.
However, during a gynaecological history there are certain areas that
need expanding on. These include menstrual, fertility, pelvic pain,
urogynaecological and obstetric histories.

Menstrual history

The pattern of bleeding the simple phrase tell me about your periods
often provides all the useful information here. The bleeding pattern of the
menstrual cycle is expressed as a fraction; such that a cycle of 4/28
means that woman bleeds for 4 days every 28 days. A cycle of 4-10/21-
42 means the women bleeds for between 4 and 10 days every 21 to 42
days. Asking the shortest time between periods and the average time
helps to determine the cycle characteristics.

Bleeding too little amenorrhoea is the absence of periods. Primary
amenorrhoea is when someone has not started menstruating by the age
of 16 and secondary amenorrhoea means that periods have been absent
for longer than 6 months after previously being present. Oligomenorrhoea
means the periods are infrequent, with a cycle of 42 days or more. The
climacteric is the peri-menopausal time when periods become less regular
and are accompanies by increasing menopausal symptoms. The
menopause is the time after the last ever period and can only therefore
be assessed retrospectively.

Irregular periods, oligomenorrhoea or amenorrhoea, suggest anovulation
or irregular ovulation. Specific questions about weight, weight change,
acne, greasy skin, hirsutism, flushes or galactorrhoea may help identify
the nature of the ovarian dysfunction.

Bleeding too much this is very difficult to measure but, if accurately
assessed then the average blood loss each month in a normal woman is
35ml. Heavy menstrual bleeding (menorrhagia) is defined as loss of more
than 80ml during regular menstruation. Some women will complain of a
very heavy period with a normal blood loss while others will not complain
in the presence of heavy bleeding. Asking how often tampons and pads
Page | 500

have to be changed can provide more objective information but is still
misleading. Whether bleeding is excessive can largely be a subjective
matter.

Specific symptoms can also indicate abnormally heavy menstruation.
Although small pieces of tissue are normal, blood clots are not. Flooding is
when menstrual blood soaks through all protection. It is both abnormal
and distressing. Symptoms of anaemia may be present. A history of the
menstrual cycle since menarche can reveal changes in the bleeding
pattern. However, an emphasis on the effect on lifestyle and treatments
tried previously is particularly important.

Bleeding at the wrong time it is important to ask specifically about
bleeding, brown or bloody discharge between periods or after intercourse.
These symptoms can point to abnormalities of the cervix or uterine
cavity. Postmenopausal bleeding is defined as bleeding more than 1 year
after the last period.

Fertility history

Last menstrual period this question is vital and should be followed with
whether that period came at the expected time and was of normal
character. As well as alerting to the possibility of pregnancy, the
information is important because some investigations need to be
performed at specific times of the menstrual cycle.

Contraception

It is useful to establish if the woman is sexually active before asking
about contraception. A further discussion about fertility issues,
unprotected intercourse and risk factors for certain diseases may be
appropriate. A contraceptive history should include any problems with
chosen contraceptives and why they were stopped. Questions to follow up
with may be are you planning a pregnancy if the situation is unclear. If
there are any infertility issues, their duration and the results of any
investigation or treatment may be relevant. If the woman is
postmenopausal then enquiry should be made about past or current use
of HRT and whether she has any symptoms attributable to the
menopause.

Cervical smears

Women between the ages of 25 and 64 are invited for cervical screening
every 3 to 5 years. The date of the womans last smear should be noted
and when it was recommended that she have her next smear. Any
previous abnormalities should be noted and whether she has had any
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colposcopic investigations or treatment. If she is over 50 it may be
relevant to discuss breast screening.

Pelvic pain history

Painful periods dysmenorrhoea is a common problem and its effects on
lifestyle are important. The cramping pain of dysmenorrhoea is at its most
intense just before and during the early stages of a period. Young women
are particularly affected and the pain has usually been present from the
first period. It is not usually associated with structural abnormalities and
may improve with age or pregnancy. Secondary dysmenorrhoea is more
likely to indicate pelvic pathology. Progressive dysmenorrhoea, where the
pain becomes worse throughout menstruation, may indicate
endometriosis.

Pelvic pain the relationship of pelvic pain to the menstrual cycle is
important. Pain immediately prior to or during a period is more likely to
be gynaecological in origin. Mittelschmerz is a cramping pelvic pain that
can be midline or unilateral, it occurs 2 weeks before a period and is
caused by ovulation. Intermittent discomfort may suggest some scarring
or ovarian pathology but it is more commonly non-gynaecological. It is
vital to take a urinary and lower GI history as UTIs and IBS may present
with pelvic pain. Any pain is likely to be worse if the patient is anxious,
stressed or depressed. Chronic pelvic pain is particularly affected by
psychosomatic factors and recognising this during history taking is
important.

Pain on intercourse dyspareunia can be superficial or deep. Deep
dyspareunia is associated with pelvic pathology such as scarring,
adhesions, endometriosis or masses that restrict uterine mobility.
Superficial dyspareunia can arise from local abnormalities at the introitus
or from inadequate lubrication. It can also be due to voluntary or
involuntary contracts of the muscles of the pelvic floor referred to as
vaginismus.

Vaginal discharge

Discharge is commonly normal but may be associated with cervical ectopy
and, particularly if offensive or irritant, can indicate infection. It can also
suggest neoplasia of the cervix or endometrium. Enquire about the
duration, amount, colour, smell and relationship to cycle.

Urogynaecological history

Urinary incontinence a good initial question to ask is Do you ever leak
urine when you dont intent to? If so then find out what provokes it, how
it affects her lifestyle and what steps she takes to avoid it. Asking is she
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sometimes does not make it to the toilet in time can help identify urge
incontinence as can a history of frequency and small volume passed after
desperation. Incontinence after exercise, coughing, laughing or straining
can suggest stress incontinence. It can be difficult to differentiate these
two types of incontinence and often they coexist.

Other urinary symptoms enquiry should be made about frequency and
nocturia. If present, small volumes and an inability to interrupt the flow
may suggest detrusor instability. If large volumes are passed, ask about
thirst and fluid intake. A history of dysuria or haematuria may suggest
infection or pathology. Strangury is the constant desire to pass urine and
suggests urinary tract inflammation.

Prolapse this may be associated with vaginal discomfort, a dragging
sensation, the feeling of something coming down and possibly backache.
Although the uterus and anterior vaginal wall and posterior vaginal wall
can prolapse, it is difficult to separate these in the history. Bladder and
bowel function should be explored, including a question about the need to
digitally manipulate the vagina in order to be able to void.

Gynaecological examination

Signs of gynaecological disease are not limited to the pelvic. A full
examination may reveal anaemia, pleural effusions, visual defects or
lymphadenopathy. However, passing a speculum, taking a cervical smear
and performing a bimanual pelvic examination are the key skills to
acquire. A great deal of sensitivity is required in their use.

Passing a speculum

Preparation the patient should empty her bladder and remove sanitary
protection. The examination room should be quiet and have a private area
for the patient to undress. It should contain an examination couch with a
modesty sheet and good adjustable lighting. A female chaperone should
always be present. The examination requires full explanation and verbal
consent. The patient should then lie back, bend their knees, put their
heels together and let her knees fall apart. The light should be adjusted to
give a good view of the vulva and perineum and the modesty sheet
should cover the patients abdomen and thighs.

Inspection firstly inspect the hair distribution and vulval skin. Hair
extending towards the umbilicus and onto the inner thighs can be
associated with disorders of androgen excess, as can clitoromegaly. The
vulva can be a site of chronic skin conditions such as eczema and
psoriasis, specific conditions such as lichen sclerosis and warts, cysts of
the Bartholins glands and cancers. Ulceration may imply herpes, syphilis,
trauma or malignancy. Look at the perineum and gently part the labia to
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inspect the introitus. Perineal scars are usually secondary to tears or
episiotomy during childbirth. A red papule around the urethral opening is
usually a prolapsed area of urethral mucosa. A white plaque like discharge
may suggest thrust, and pale skin with punctuate red areas implies
atrophic vaginitis. Asking the woman to cough may demonstrate stress
incontinence or the bulge of a prolapse.

Speculum examination Ensure the speculum is warmed, working
normally and lubricated with gel. Hold the speculum so that its blades are
orientated in the same direction as the vaginal opening. Part the labia and
slowly insert the speculum, rotating it gently until the blades are
horizontal. If the patient is in the lithotomy position at the edge of the
cough, the speculum can be turned downwards to avoid pressure on the
clitoris. It should be inserted fully in a slightly posterior direction, before
firmly, but gently, opening to visualise the cervix. The speculum can then
be closed a little when the cervix pops into view. If the cervix is not
visible it is often because the speculum is not inserted far enough before
opening. If this is not the case, the cervix is either above or below the
blades. As most ueri are anteverted, it is usually below the blades and the
speculum should be angled more posteriorly before reopening. Otherwise
gently insert a finger to demonstrate its position.

Inspect the vaginal for atrophic vaginitis and discharge. A creamy or
mucousy discharge is normal. A yellow-greenish frothy discharge is seen
with trichomonas vaginalis and a grey-green fishy discharge is suggestive
of bacterial vaginosis. There may be a purulent cervical discharge with
gonorrhoea and an increased mucousy discharge may occur with
chlamydial cervicitis. Swabs, if required, should be taken from the vaginal
fornices (high vaginal) or the cervical canal (endocervix).

The cervical os is small and round in the nulliparous and bigger and more
slit-like in parous women. Threads from an IUCD may be present.
Translucent lumps or cysts around the os are Nabothian follicles but warts
and tumours can sometimes be seen. An ectopy is red, as the epithelium
of the cervical canal extends onto the surface of the paler outer cervical
epithelium. It varies across the cycle and should be looked on as normal,
although it may be associated with contact bleeding or increased
discharge. The speculum should be opened further and withdrawn beyond
the cervix before rotating back again, closure and removal.

Taking a cervical smear

Smears should ideally be performed in the mid to late follicular phase and
not during menstruation. A speculum should be inserted as above. The
most commonly used technique for sampling involves liquid based
cytology and a broom-type sampling device. Insert the central bristles of
the device into the endocervical canal deep enough to allow the shorter
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bristles to fully contact the ectocervix. Push gently and rotate the broom
in a clockwise direction five times (1800 degrees). Immediately put the
broom into the container of preserving solution and rinse as quickly as
possible by rotating ten times whilst pushing against the side of the
container (although now you can just snap the end off into the solution).
A bivalve speculum holds open the vaginal walls and obscures any
cystocele or rectocele. A univalve speculum can demonstrate these. The
patient lies in the left lateral position with her knees drawn up. The blade
of the speculum is then used to hold back the anterior vaginal wall.
Coughing will show a bulge of the posterior wall if a rectocele is present.
When the posterior wall is held back, coughing will demonstrate the bulge
of a cystocele and/or uterine descent.

Pelvic examination

Apply lubricating gel to the gloved finger of the right hand. Part the labia
with the index and middle fingers of the left hand. Gently slip the right
index finger into the vagina. If comfortable slip the middle finger below
the index finger, making room posteriorly to avoid the sensitive urethra.
The cervix feels like the tip of a nose and protrudes into the top of the
vagina. Feel the cervix to note irregularities or discomfort. Cervical
excitation is when touching the cervix causes intense pain and it implies
active pelvic inflammation. The dimple of the os can be felt and the
firmness of the uterine body lies above or below the cervix. A vaginal cyst
may be an embryological duct remnant, and vaginal nodules may
represent endometriosis.

Assess the position of the uterus. It is usually anteverted with the cervix
posterior and the uterine body anterior. If the uterus is retroverted the
cervix is anterior and the uterine body lies posterior. The fingers should
be manipulated behind the cervix to lift the uterus. With the left hand
above the umbilicus, feel through the abdomen for the moving uterus. If
the uterus cannot be palpated the hand should be moved gradually down
until the uterus is between the fingers.

Assess the mobility, regularity and size of the uterus. The adhesions of
endometriosis, infection, surgery or malignancy fix the uterus and make
bimanual examination more uncomfortable. Asymmetry of the uterus may
imply fibroids. Uterine size is often related to stage of pregnancy. A
normal sized uterus feels like a plum. At 6 weeks a pregnant uterus feels
like a tangerine and at 8 weeks an apple, at 10 weeks an orange and at
12 weeks a grapefruit. At 14 weeks the uterus can be felt on abdominal
palpation alone.

Feel for the adnexal masses in the vaginal fornices lateral to the cervix on
each side. Push up the tissues in the adnexal and, starting with a hand a
above the umbilicus, bring it down to the appropriate iliac fossa, trying to
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feel a mass bimanually. In thin women the ovaries can just be felt, but a
definite adnexal mass is abnormal and should be investigated further. As
large adnexal masses tend to move to the midline, it can be difficult to
differentiate a large ovarian cyst form a large uterus.

Obstetric history

An obstetric history follows the usual model for history taking. However,
as with gynaecological histories, there are several unique things to be
covered. A history from a pregnant woman starts with calculating the
gestation and putting this pregnancy in the context of previous
pregnancies. It is followed by the presenting complaint and then the
complete history of this pregnancy and previous pregnancies.

Establishment of the estimated day of delivery (EDD)

Term is between 37 and 42 weeks gestation but the actual EDD is 40
weeks after day 1 of the LMP. This can cause confusion as gestation is
calculated from the LMP, not conception. When someone is 12 weeks
pregnant she conceived 10 weeks ago. To calculate the EDD without a
wheel, subtract 3 months from the LMP and add 1 year and 10 days.
These methods assume a regular 4 week cycle. If this is not the case then
the EDD may require adjustment and with a regular 5 week cycle the true
EDD will be 1 week later than calculated (the follicular phase is always the
same length). An US scan is used to confirm the final EDD. However,
scans have an associated error that increases with gestation, and in the
early second trimester this is approximately plus or minus 1 week. In
general the EDD from the LMP is used, unless the US dates differ by more
than a week.

Obstetric summary

Parity is a summary of a womans obstetrical history and two numbers are
used to document this. Added together the numbers give the number of
previous pregnancies. Someone who is para 0+0 has not been pregnancy
before. The first number is the total number of live births plus the number
of stillbirths after 24 weeks gestation. The second number is the number
of pregnancies before 24 weeks in which the baby was not born alive. A
woman who is para 3+3 has been pregnant 6 times. The first 3 may
represent a normal term delivery, a live birth at 23 weeks (after which
the baby may have died), and a stillbirth at 25 weeks gestation. The other
three pregnancies may have been spontaneous miscarriages at 23 weeks,
an early ectopic pregnancy and a first trimester pregnancy termination.
The numbers related to pregnancies rather than babies so that the
mother of twins would be para 1+0. A women who is primiparous is
pregnant and para 0. A parous woman is pregnant and para 1 (or more).

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History

Remember that there are two patients and the fetus should be assessed
by asking about movements and any recent tests for fetal wellbeing. Fetal
movements are first felt at around 20 weeks; a time referred to as the
quickening but can be as early as 16 weeks. Normally there are several
movements each hour but they are more frequently noticed when
concentrated on. Kick charts usually involve noting the time when 10
movements have occurred.

The first question to ask is about Preconceptual folic acid, followed by the
diagnosis of pregnancy and problems such as bleeding and vomiting or
pain in the first trimester. The next thing to ask is about the booking
appointment, results of investigations, including US and prenatal
screening tests. Then cover subsequent antenatal care, including clinics
and any day unit assessment. The reason for and outcome of any
additional USS should be reported.

Past obstetric history

Each of the womans previous pregnancies should be discussed
chronologically. Information required includes the date, the gestation and
the outcome. If the pregnancy ended in the first or second trimester the
diagnosis and management, including any operative procedures, should
be recorded. For other pregnancies information about the method of
delivery, the reason for an operative delivery, the sex, weight, health and
method of feeding should be obtained. Any postnatal complications need
highlighting.

Medical history
Gynaecological history
Drug history
Family history
Social history
Systemic enquiry

Low risk versus high risk pregnancy

The key to good antenatal care is to recognise which women are more
likely to develop problems in pregnancy before they happen. Clearly all
women can develop problems but women at the extremes of age and
weight, those with pre-existing medical conditions like diabetes,
hypertension and epilepsy, those with significant past or family histories
of obstetric problems, and those who smoke heavily, misuse drugs or
have poor social circumstances are all more likely to develop problems. In
these high risk pregnancies, antenatal care should be tailored to meet the
increased needs of the woman and fetus.
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Obstetric examination

The areas to focus on here should be guided by the clinical history. In the
hyperdynamic circulation of pregnancy cardiac murmurs can be common.
The vast majority of these are flow murmurs but previous unrecognised
pathological murmurs occasionally become apparent. Likewise, in normal
pregnancy, skin changes and increasing oedema are common. A
systematic approach is preferable. Starting with the hands and working
up to the head and down the abdomen and legs will avoid missing
important signs. Examination of the skin, sclera, conjunctiva, retina,
thyroid, liver and tendon reflexes may reveal important abnormalities.
There are three key elements to the obstetric examination which are
blood pressure, abdominal palpation and vaginal examination.

Blood pressure assessment

The pregnant woman should lie in a semirecumbent position at
approximately 30 degrees angle and time should be taken to ensure that
she is relaxed. Any tight clothing should be removed from her arm. The
blood pressure should be taken from her right arm, supported at the level
of her heart. Ideally the cuff bladder should cover 80% of the arm
circumference and the width of the bladder should be 40% of the arm
circumference. The difference here is that the diastolic blood pressure is
the point where the Korotkoff sound first becomes muffled rather than
where it disappears.

Abdominal palpation

The woman should be examined in the recumbent position and initially
the abdomen inspected. During inspection look for the distended
abdomen of pregnancy and note asymmetry, fetal movements and tense
stretching. The skin may reveal old or fresh striae gravidarum, a midline
pigmented linea nigra and any scars from old previous surgery. The next
stage is palpation which begins with measuring the symphysiofundal
height (SFH). The uterus is palpated with the palm of the left hand,
moving it upwards and pressed with the lateral border. There is a give at
the fundus. Hold the end of a tape measure, measuring centimetre side
down, at the fundus and mark the tape at the upper border of the pubic
symphysis. At 20 weeks gestation the uterus comes up to around the
umbilicus and the SFH is 20cm. Each week the uterus grows by 1cm so
that at 28 weeks it is 28+/-2cm and at 32 weeks 32+/-2cm.

The next stage is to feel the uterus using gentle pressure of both hands,
noting any irregularities, any tender areas and the two fetal poles, head
and bottom. The lie of the fetus refers to the axis of the poles in relation
to the mother. It is usually longitudinal but can be transverse of oblique.
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The presentation refers to the part of the baby that is entering the pelvis.
Generally it is cephalic (head) or a bottom (breech) but it can be the back
or limbs. In twins it should be possible to feel at least 3 fetal poles. The
engagement of the head refers to how far into the pelvis it has moved.
This may be palpated by turning to face the womans feet and pushing
suprapubically, trying to ballot the head between the fingers. The descent
can be likened to a setting sun and is recorded as fifths palpation. It is
engaged when the maximum diameter of the fetus head has passed
through the pelvic brim. Therefore at 3/5ths palpation it is not engaged
by at 2/5ths palpable it is.

An attempt should be made to get an impression of the liquor volume,
particularly if the SFH is abnormal. In oligohydramnios, fetal parts can
often be felt easily, while in polyhydramnios the uterus is tense and fetal
parts are difficult to feel. Also feel for the back of the fetus. It is firmer
than the limbs (the side of most movements) and lies to one side. This
helps work out the position of the fetus and where to pick up the fetal
heart, it runs at a rate of 110-150bmp and is heard over the anterior
shoulder.

The fetal heart is heard using an USS transducer or a Pinard stethoscope.
To use a Pinard the funnel end should be placed over the anterior
shoulder of the fetus and an ear at the other end, and listen carefully
without holding on. It can be tricky and is rather like listening to a clock
ticking behind a waterfall (interesting analogy?). At the end of the
examination ensure that the woman is comfortable, cover her abdomen
and help her to sit up.

Obstetric vaginal examination

VE is the cornerstone of intrapartum management but is also a key skill in
antenatal assessment. It is used in the diagnosis of pre-labour rupture of
membranes and to assess pre-labour cervical change. Although the
diagnosis of membrane rupture is often made from the clinical history, a
speculum examination is important for three reasons. The first is to look
for evidence of liquor in the vagina. This is using the standard technique
and a pool of fluid, sometimes containing white flecks of vernix, can be
seen in the posterior vagina or coming out the cervix on coughing. The
second is to allow a high vaginal swab to be taken, looking particularly for
group B streptococci. The third is to allow a visual inspection of the cervix
to avoid digital examination.

Digital examination assesses pre-labour cervical change in preterm and
post-term pregnancies. This helps determine those at risk of preterm
delivery and is useful in the management of induction of labour. After
abdominal palpation the vaginal examination is performed in the same
way as a gynaecological examination. In addition, however, it is important
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to note the ischial spines posterolaterally, as the station or degree of
descent is made with reference to this point. Feel for the cervix and note
its position. Is it anterior or posterior and difficult to reach? Note its
length. The cervix shortens from 3-4 cm until it is flush with the fetal
head and does not protrude the vagina. This process is called effacement.
Next its consistence needs to be checked, as does the dilation of the os.
The cervix is assessed by the modified Bishops score. As the cervix ripens
it becomes softer, shorter and more anterior and dilated, and the fetal
head descends. As the onset of spontaneous labour approaches, the
Bishops score increases.

Chapter 4 Paediatric Gynaecology

Normal puberty

Puberty encompasses an adolescent growth spurt, the acquisition of
secondary sexual characteristics, the onset of menstruation (menarche)
and the establishment of ovulatory function.

Puberty begins with the reactivation of the hypothalamo-pituitary-ovarian
axis, which has lain dormant from the 3
rd
-4
th
month of postnatal life.
During childhood the hypothalamus and pituitary are highly sensitive to
suppression by low levels of gonadal steroids but, with the onset of
puberty, this is lost. The first recognised endocrine event is the
appearance of sleep-related pulsatile release of gonadotrophins (LH and
FSH). As puberty progresses, these extend through the 24 hours of the
day. These gonadotrophins lead to the production of ovarian oestrogen,
which initiates the physical changes of puberty. Changes in the ovaries
are evident from an early stage and, before any obvious external physical
changes, ultrasound will show a progressively increasing size of ovarian
follicles such that, after the age of 8 and a half years, a multicystic
appearance of the ovaries can often be demonstrated (more than six
follicles greater than 4mm in diameter).

Signs of puberty the external signs of puberty usually occur in a specific
order. The onset of the adolescent growth spurt is first and this
acceleration in growth is dependent on both growth hormone and gonadal
steroids. Almost at the same time the subareolar breast bud appears
(thelarche). Breast development, which is primarily under the control of
ovarian oestrogens, is described in five stages. The appearance of the
breast bud is followed shortly afterwards by pubic and axillary hair
(pubarche), mainly under the influence of ovarian and adrenal androgens.
Menarche is a late feature in the course of puberty.

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Since the turn of the 20
th
century the average age for the onset of
puberty has been decreasing, most likely due to better nutrition and
health. It is currently at 12.8 years of age and has remained stable for
the last 30 years. It is thought that menarche is closely related to body
weight and occurs roughly at 48kg. The body fat percentage is also
important and increases to around 22% during the adolescent growth
spurt. Eventually there will be a 3:1 ratio of weight to fat by menarche.
Factors which delay this often also delay menarche and include:
Malnutrition
Slow growth before and after birth
Twins
Athletic training
Eating disorders particularly anorexia nervosa
Environmental factors urban/rural and social classes

95% of normal girls attain stage 2 breast development by the age of 13.2
years and 50% will complete all stages of puberty in 2-3 years. 97% will
do so in 5 years. The bone age correlates closely with the menarche and
can be measured by an x-ray of the hand. 80% of girls begin to
menstruate at a bone age of 13-14 years. After the menarche the
menstrual cycle tends to be irregular as ovulation is initially infrequent.
Most girls take several months or even a year or so to establish regular
periods.

Delayed puberty

This is defined as the absence of physical manifestations of puberty by
the age of 13 years. Primary amenorrhoea is defined as no menstruation
but the age of 14 years accompanied by the failure to develop secondary
sexual characteristics. It is also defined as no menstruation by the age of
16 years in the presence of normal sexual development. Sometimes girls
may enter puberty but then their progression may arrest.

Constitutional delay this means the girl is normal but inherently late in
entering puberty. This is the commonest cause of delayed puberty and is
often genetic with the mother also suffering. Although these individuals
are usually of short stature, and have been compared to their peers for a
long time, their height is generally appropriate for their bone age. All
stages of development are delayed and there is a functional deficiency of
gonadotrophin releasing hormone. In these patients bone age shows a
better correlation with the onset and progression of puberty than does
chronological age. At a bone age of 11-13 years they should enter
puberty.

Management here is often reassurance and continued observation. When
psychological problems arise treatment may be indicated. This may take
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the form of 3 months of low dose estradiol 2 micrograms daily and this
can be repeated.

Hypogonadotrophic hypogonadism (hypogonadism caused by a
hypothalamus or pituitary problem) this arises from a defect of GnRH
secretion and consequently FSH and LH. It is associated with conditions
affecting body weight, central nervous system tumours and isolated
gonadotrophin deficiency (rare).

Management is to restore weight if of a low weight and neurological
treatment of those with CNS pathology. When the defect is at the
hypothalamic level a pulsatile administration of GnRH via an infusion
pump can be given. This results in progress through all puberty stages in
12 months. It is however a very demanding form of treatment and in
most cases replacement therapy with estradiol is usually employed for
physical maturation. Pulsatile GnRH is required if ovulation induction is
required.

Primary gonadal failure this is most commonly assoiated with
chromosomal abnormalities such as Turner syndrome or can be as a
result of chemo/radiotherapy. It is a hypergonadotrophic hypogonadism
form, i.e. the problem is at the level of the germ cell line.

Treatment is usually hormone replacement throughout life until 50 but
they will remain infertile. Initially estradiol 2 micrograms is given to
progress through puberty and then higher doses can be given when
breast development is adequate (10-20 micrograms). Progresterones are
later added to avoid unopposed oestrogen stimulation of the
endometrium. Commonly ongoing oestrogen replacement is with the OCP.

General investigations for this condition include:
Plasma FSH, LH, oestradiol, prolactin and TFT
Karyotype
X-ray for bone age
Cranial CT or MRI

Precocious puberty

The appearance of sings of sexual maturation prior to the age of 8 years
constitutes precocious puberty. The causes are as follows:

Constitutional 80% of cases, with the normal sequence of puberty
occurring at an earlier age. The growth spurt is the most striking feature
but it is usually menstruation that brings the girls to medical attention.

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Intracranial lesion this is the next most likely cause, particularly in
younger girls. This can result from encephalitis, meningitis or
hydrocephaly or a SOL and may trigger premature activation of the axis.

Feminizing tumours - of the ovary or adrenals may give vaginal bleeding
without signs of pubertal development

Other causes hypothyroidism and rare syndromes

Investigations and management:
FSH, LH, oestradiol and TFTs
X-ray of hands to determine bone age
Ultrasound of abdomen and pelvis
Radiological skeletal survey
Cranial CT or MRI
In constitutional and cerebral forms the ovaries will show multicystic
changes previously described in normal puberty. It will also discriminate
between follicular cysts and solid secreting masses. The aims with
precocious puberty are to arrest or induce regression of the physical signs
of puberty, mainly menarche, and to avert the rapid advance in bone age
that could compromise final height.

The introduction of GnRH agonists, which suppress gonadotrophin
secretion, has revolutionised the treatment of constitutional and cerebral
precocious puberty. Treatment can be continued for 2-3 years without
significant side effects.

Abnormal genital tract development

Horizontal septae there may be crytomenorrhoea with cyclical pain and
a haematocolpos . If the obstruction is simply caused by the hymen ten a
cruciate incision under general anaesthesia is done. If the membrane is in
the middle or upper vagina then total excision and suturing is needed but
can reduce pregnancy rates down to 25% (100% if low down).

Vertical septae associated with abnormal uterine development. Although
presentation may be with dysparenunia, infertility or occasionally in
advanced labour, the septum is often asymptomatic and can be surgically
removed.

Vaginal atresia associated with an absent or rudimentary uterus and
presents with amenorrhoea in the presence of normal secondary sexual
characteristics.

Uterus

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There are many abnormal uterine shapes that are usually asymptomatic
but can present with primary fertility problems, recurrent pregnancy loss
and menstrual dysfunction. With a unicornuate uterus there is a higher
miscarriage rate and with a bicornuate uterus this can be asymptomatic
and hold a fetus for a longer time period.

Paediatric vaginal discharge

Such a symptom raises the possibility of but does not necessarily imply
sexual abuse. Non-microbial causes include threadworms or foreign body
insertion but this is rare. Microbial causes are difficult to detect as the
commensal profile of children is not well established. In those with
discharge group A strep is commonly found. Bowel flora is also common.
Swabs should be taken to check for chlamydia and gonorrhoea. Vaginal
bleeding always requires investigation in the young and may need a
vaginal examination under general anaesthesia.

Chapter 5 Disorders of sex development (DSD)

Genetic differentiation

Hormone production by the testes normally determines the phenotypic
sex. First Sertoli cells develop and produce anti-Mullerian hormone (AMH)
which promotes the regression of Mullerian structures. Then, leydig cells
appear and, at around 8 weeks, under the stimulation of hCG, start to
secrete testosterone. This causes development of the Wolffian structures
(vas deferens, seminal vesicles and epididymis). Peripheral conversion of
testosterone to dihydrotestosterone requires the enzyme 5-alpha-
reductase and virilises the external genitalia. At 12 weeks the fetus is
recognizable male and masculinisation of the genitalia is said to be
complete by 14 weeks. The penis, similar in size to the clitoris at 14
weeks, then enlarges from around 20 weeks until birth.

The ovarian cortex develops at 12 weeks and by 13.5 weeks primordial
follicles are present. As AMH is not produced, the Mullerian ducts develop
into the uterus, fallopian tubes and upper portion of the vagina. Without
androgens the urogenital sinus develops into the female external
genitalia, forming the clitoris, labia and lower vagina. The Wolffian
structures regress at around 10 weeks due to the absence of
testosterone. By 15 weeks the urogenital and Mullerian parts of the
vagina meet and fuse and this vaginal plate develops a lumen around 20
weeks.

Disorders of sex development (DSD)

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Sex chromosome DSD Turner syndrome results from complete or partial
absence of one X chromosome. It is the commonest chromosomal
anomaly in females, occurring in 1 out of 2500 phenotypic female births.
Although there can be variation amongst affected women, most have
clinical features falling into the following three categories:
Short stature
Ovarian dysgenesis
Internal and external dysmorphic features which may be associated
with Lymphoedema

Clinical features include IBD, sensorineural/conductive hearing loss, renal
anomalies, cardiovascular disease, low bone density and endocrine
dysfunction. The most common chromosome complement in Turner
syndrome is monosomy 45X but mosaicism is also common (i.e. 45X and
46XX together). Any form of gonadal streak must be removed to
prophylactically reduce the risk of tumours. The majority of patients are
diagnosed during childhood or adolescence but about 10% are not
diagnosed until adulthood. The focus of paediatric care is on short stature,
whereas adult women are generally more concerned with oestrogen
replacement and fertility prospects. Pregnancy is possible but generally
egg donation is needed.

46XX (congenital adrenal hyperplasia) CAH this is the commonest DSD
with an incidence of 1 in 14,000 worldwide. It usually presents with
ambiguous genitalia in the neonate. In this condition the adrenal glands
have undergone hyperplasia due to the overproduction of steroids.
Affected individuals have an enzyme block in the steroidogenic pathway in
the adrenal gland, with over 90% being deficient in 21-hydroxylase; this
enzyme converts progesterone to deoxycorticosterone. The resultant low
levels of cortisol continue to drive the negative feedback loop, leading to
increased levels of androgen precursors and, in turn, to elevated
testosterone production.

Excessive testosterone levels in a female fetus will lead to virilisation of
the external genitalia. The clitoris is enlarged and the labia are fused and
scrotal in appearance. The upper vagina joins the male-type urethra and
opens as one channel onto the perineum. The chromosomes are XX and
the ovaries are normal, as are the internal structures, including the
fallopian tubes, uterus and upper vagina. Approximately 75% will have a
salt losing variety which affects the ability to product aldosterone. This
presents a life threatening situation. Affected individuals will require
lifelong steroid replacement, such as hydrocortisone, with fludrocortisone
for salt losers.

Traditional management involves feminizing genital surgery during the
first year of life to reduce the size of the clitoris and open up the lower
vagina. CAH is an autosomal recessive condition and molecular genetics
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now allow prenatal diagnosis in families where an affected child has
already been born. Prenatal therapy is available with dexamethasone, as
this crosses the placenta and should therefore reduce the drive mediated
by the low cortisol levels.

46XY Complete androgen insensitivity syndrome (CAIS) this is very rare
(1 in 40,000 to 90,000) and is due to an abnormality of the androgen
receptor, which is completely or partially unable to respond to androgen
stimulation. In a fetus with CAIS the testes form normally due to the
action of the SRY gene. At the appropriate time, these testes secrete
AMH, leading to the regression of the Mullerian ducts. CAIS women do not
therefore have a uterus. Testosterone is also produced at the appropriate
time, however, due to the inability of the androgen receptor to respond,
the external genitalia do not virilise and instead undergo female
development. The result is a physically and psychological female with no
uterus, and testes are found at some point in their line of descent through
the abdomen from the pelvis to the inguinal canal. During puberty breast
development will be normal but the effects of androgens are not seen and
pubic and axillary hair growth is minimal. Around 2/3 of mutations are
inherited from their mother.

The commonest presentation is with amenorrhoea although children can
also present before with an inguinal hernia with a testes in it. Diagnosis is
based on clinical examination along with signs of XY karyotype.
Psychological support is the initial mainstay of treatment with full
disclosure. Gonadectomy is usually recommended post-puberty due to the
small risk of malignancy associated with intra-abdominal testis. After this
oestrogen replacement is necessary to maintain bone density and general
well-being. The vagina is blind ending and usually short but generally
responds well to self dilation.

5-alpha-reductase deficiency leads to a failure of peripheral conversion of
testosterone to dihydrotestosterone. This condition has autosomal
recessive inheritance and presentation can be with ambiguous genitalia at
birth or with virilisation at puberty of a female child.

Ovotesticular DSD is where there are both testis and ovarian tissue with
the majority being 46XX karyotype.

46XY complete gonadal dysgenesis the chromosomes are XY but the
gonads do not function. Since there are no testes there is no AMH or
testosterone production so the child is phenotypically female. The
external genitalia is unambiguously female and the uterus, vagina and
fallopian tubes are normal. The condition usually first presents in
adolescents when there is delayed puberty and amenorrhoea. There is a
high incidence of gonadoblastomas so this tissue should be removed.
Management is induction of puberty with oestrogen and long-term
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replacement therapy with oestrogen and progesterone. Pregnancy is
possible with a donated egg.

Summary

DSD may present at:
Birth CAH and partial androgen insensitivity
Adolescence CAIS and gonadal dysgenesis
Virilisation at puberty 5-alpha-reductase deficiency

Chapter 6 The normal menstrual cycle

Endometrial changes are controlled by the ovarian cycle. The average
duration of this cycle is 28 days and it is composed of a follicular phase,
ovulation and a postovulatory/luteal phase. If the cycle is prolonged then
the follicular phase lengthens but the luteal phase remains constant at 14
days. What is fundamentally important to the normal cycle is an intact
hypothalamo-pituitary-ovarian endocrine axis, the presence of responsive
follicles in the ovaries and a functional uterus.

The hypothalamus controls this cycle but it itself can be influenced by
higher centres which allows aspects such as emotion to have an effect.
The hypothalamus acts on the pituitary gland by releasing GnRH which is
secreted in a pulsatile manner. The pulses are approximately every 90
minutes. GnRH reaches the anterior pituitary via the small blood vessels
and acts to stimulate the release of LH and FSH.

FSH is a glycoprotein which stimulates growth of follicles during the
follicular phase of the cycle. FSH also stimulates sex hormone secretion,
predominantly oestradiol, by the granulosa cells of the mature ovarian
follicle.

LH is also a glycoprotein which stimulates sex hormone production
(testosterone which is then converted to oestradiol by the actions of FH).
LH plays an essential role in ovulation and it is the mid-cycle release of LH
which triggers the rupture of the mature follicle with release of an oocyte.
Postovulatory production of progesterone by the corpus luteum is also
under the influence of LH.

FSH, LH, TSH and hCG are all composed of the same alpha sub unit but
the beta subunit differs. The cyclical activity within the ovary which
constitutes the ovarian cycle is maintained by the feedback mechanisms
which operate between the ovary, hypothalamus and the pituitary.

The ovarian cycle

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Follicular phase
Day 1 8 at the start of the cycle (beginning of menstruation), levels of
FSH and LH rise in response to the fall of oestrogen and progesterone at
menstruation. This stimulates the development of 10-20 follicles. The
follicle which is most sensitive to FSH is the dominant follicle and is the
one destined to reach full maturation and ovulation. This dominant follicle
appears during the mid-follicular phase, whilst the remainder undergo
atresia. With growth of the dominant follicle, oestrogen levels increase.

Day 9 14 As the follicle increases in size, localised accumulations of
fluid appear among the granulosa cells (of the ovum) and become
confluent, giving rise to a fluid-filled central cavity called the antrum,
which transforms the primary follicle into a Graafian follicle in which the
oocyte occupies an eccentric position, surrounded by two or three layers
of granulosa cells termed the cumulus oophorus.

Associated with follicular maturation there is a progressive increase in the
production of oestrogen by the granulosa cells of the developing follicle.
As these levels rise the release of both gonadotrophins is suppressed
(negative feedback) which prevent hyper stimulation of the ovary and the
maturation of multiple follicles. The granulosa cells also product inhibin
which restricts the number of follicles undergoing maturation.

Ovulation
Day 14 ovulation is associated with rapid enlargement of the follicle,
followed by protrusion from the surface of the ovarian cortex and rupture
of the follicle with extrusion of the oocyte and adherent cumulus
oophorus. Some women may feel pain associated with this
(mittelschmerz) just before ovarian rupture. The rise in oestradiol
concentration is thought to be responsible for the subsequent mid-cycle
surge of LH and FSH as a form of positive feedback. Immediately before
ovulation there s a rapid drop in oestrogen and rise in progesterone.
Ovulation follows within 18 hours of the mid-cycle LH surge.

Luteal phase
Days 15 28 the remainder of the Graafian follicle, which is retained in
the ovary, is penetrated with vascular material. These structures
collectively form the corpus luteum. This is a major source of sex steroid
hormones, oestrogen and progesterone, secreted by the ovary in the
postovulatory phase.

Establishment of the corpus luteum results in a marked increase in
progesterone secretion and a second rise in oestradiol levels.
Progesterone levels peak 1 week after ovulation (21 to 28 days). This is a
sign of ovulation when investigating fertility. During the luteal phase
gonadotrophins reach a low and remain low until regression of the corpus
luteum, which occurs on day 26-28. In conception and implantation occur
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then the corpus luteum does not regress as it is maintained by hCG
secreted by the trophoblast. If this has no occurred then the corpus
luteum regresses, progesterone levels fall and menstruation ensues. The
consequent fall in levels of sex hormones allows the FSH and LH levels to
rise and initiate the cycle.

The uterine cycle

The endometrium this is composed of two layers; a superficial layer
which is shed in the course of menstruation, and a basal layer which does
not take part in the process but regenerates the superficial layer. The
junction is denoted by the formation of spiral arteries.

The proliferative phase occurs during the follicular phase in the ovary and
is when the endometrium is exposed to oestrogen secretion. With ongoing
oestrogen exposure there is ongoing growth and proliferation of glands
and blood vessels.

The secretory phase occurs after ovulation when progesterone production
induces secretory changes in the endometrial glands, preparing the
endometrium for implantation.

The menstrual phase: normally the luteal phase lasts 14 days, at the end
of which regression of the corpus luteum is associated with a decline in
ovarian oestrogen and progesterone. This fall is followed by intense
spasmodic contractions of the spiral section of the endometrial arterioles,
giving rise to ischaemic necrosis, shedding of the superficial layer of the
endometrium and bleeding.

The vasospasm appears to be due to local production of prostaglandins.
These may also account for the increased uterine contractions at the time
of the menstrual flow.

Cervical mucus

The glands of the cervix secrete cervical mucus. This changes in quantity
and character throughout the cycle in response to sex hormones from the
ovary. Early in the follicular phase the cervical mucus is scant. Later in
the follicular phase the increasing oestrogen levels induce changes in
composition of the mucus. The water content increases so that just before
ovulation the mucus is watery and easily penetrated. After ovulation the
progesterone secreted by the corpus luteum counteracts the effects of the
oestrogen, and the mucus becomes thick and impermeable. This prevents
further implantation and is one of the ways the progesterone OCP works.

Other cyclical changes

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Basal body temperature a rise in basal temperature of approximately
0.5
o
C occurs following ovulation and is sustained until the onset of
menstruation. This is due to the thermogenic effect of progesterone
acting at the hypothalamic level. Should conception occur, the elevation
in basal body temperature is maintained throughout pregnancy.

Breast changes the human mammary gland is very sensitive to
oestrogen and progesterone. Breast swelling is often the first sign of
puberty, in response to the small increase in ovarian oestrogen.
Oestrogen and progesterone act synergistically on the breast and, during
the normal cycle, breast swelling occurs in the luteal phase (probably due
to increasing progesterone). The swelling is thought to be vascular rather
than glandular.

Psychological changes some women notice mood changes with an
increase in emotional liability in the late luteal phase. These changes may
be directly due to falling levels of progesterone, although mood changes
are not always closely synchronized with hormonal fluctuations.

Chapter 7 Amenorrhoea

Amenorrhoea can be primary (when menstruation has never occurred) or
secondary (when menstruation ceases for 6 months or more).

Primary amenorrhoea failure to menstruate by the age of 16 is referred
to as primary amenorrhoea. The likely cause depends on whether
secondary sexual characteristics are present or not. If they are absent
then the cause is most likely a delay in puberty. If pubertal development
is normal then an anatomical cause should be suspected. The main
anatomical causes include:
Congenital absence of the uterus
Imperforate hymen causing cyclical lower abdominal pain each
month. An incision under anaesthesia should cure this
Failure to menstruate may also be a physiological delay. There is often a
family history of the same delay in the mother. A progesterone challenge
test (given for 5 days then withdrawn and a bleed should occur) is done
and offers reasonable reassurance that spontaneous menstruation will
occur. An ultrasound can be useful to confirm normal structures. Low
body weight and excessive exercise are also associated with primary
amenorrhoea.

Secondary amenorrhoea the commonest causes here are weight loss,
polycystic ovarian syndrome (PCOS) and hyperprolactinaemia.

Physiological is the most common cause and of which pregnancy and
lactation are the major components. Pregnancy should therefore always
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be excluded. The high postpartum levels of prolactin, associated with
breast feeding, suppress ovulation, probably due to decreased GnRH
production. Amenorrhoea usually persists throughout the period of breast
feeding. This hypo-oestrogenic state may lead to atrophic vaginitis and
occasionally painful intercourse.

Hypothalamic amenorrhoea is frequently associated with stress and
usually resolves spontaneously. Physical stress in the form of athletic
training can also result in suppression of the hypothalamo-pituitary-
ovarian axis. There are low levels of pituitary gonadotrophins in
association with low levels of prolactin and oestrogen. If the hypothalamic
amenorrhoea is not related to low body weight then treatment depends
on whether the women wants to conceive. If pregnancy is not desired
then oestrogen replacement in the form of the OCP is used. If the woman
wants to become pregnant then ovulation may be induced with pulsatile
GnRH therapy or exogenous gonadotrophins. The hypothalamus is very
sensitive to changes in body weight and even a 10-15% variation from
the ideal may lead to amenorrhoea. Anorexia should be considered and
restoration of body weight is vital to restore menstruation. Ovulation
induction is not recommended before the restoration of weight as
pregnancy could carry to risk of IUGR and mortality.

Prolactin stimulates breast development and subsequent lactation.
Prolactin is produced in the anterior pituitary and is inhibited by dopamine
from the hypothalamus. High levels of prolactin suppress ovarian activity
by interfering with the secretion of gonadotrophins. Sustained high levels
can lead to amenorrhoea and galactorrhoea unrelated to pregnancy. The
causes of this are commonly micro/macroadenomas, PCOS, primary
hypothyroidism and drugs.
Adenomas should be sought for if prolactin is very high and the visual
fields need to be checked. One third regress spontaneously and only 5%
of microadenomas become macroadenomas. Serum levels of prolactin
correlate well with tumour size but may be distorted if the tumour is
compressing the pituitary stalk. Treatment is usually with a dopamine
agonist which suppresses prolactin levels and induces regression.

Ovarian
Premature ovarian failure - the menopause normally occurs around the
age of 50 but is termed premature if the cessation occurs before the age
of 40. As in natural menopause, the failure is usually due to a depletion of
primordial follicles in the ovaries. This occurs in 1% of women and can be
due to surgery, infections, cytotoxic drugs or radiotherapy. A low
oestrogen level, very high FSH and the absence of any menstrual activity
are very poor prognostic signs for recovery. Pregnancy by IVF may be
possible. HRT is required to relieve postmenopausal symptoms and
minimise the risk of osteoporosis.

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Polycystic ovarian syndrome is associated with menstrual disturbance and
is the most common form of anovulatory infertility. It is thought to affect
up to 10% of women and is characterised by at least two of:
Oligo or amenorrhoea
Ultrasound appearance of large ovarian and/or multiple small
follicles
Clinical evidence of excess androgens
The aetiology is unknown but is thought to be linked to insulin resistance,
excess insulin and excess ovarian androgen production. Linked with this is
the increased risk of NIDDM and cardiovascular disease in later life.
Treatment depends on the presenting problem. The COCP has been used
to regulate the menses. Hirsutism may also be treated with the COCP as
it suppresses ovarian androgen production. Clomifene is used to induce
ovulation in women with anovulatory infertility. The cornerstone of
management however is weight reduction which reduces insulin
resistance, corrects hormonal imbalance and promotes ovulation. Long
term there is an increased risk of endometrial carcinoma.

Other endocrine causes include thyrotoxicosis, primary hypothyroidism
and late onset congenital adrenal hyperplasia.

Uterine causes are mainly excessive uterine curettage at the time of
miscarriage, termination or secondary to PPH. The basal layer of the
endometrium may have been damaged and adhesions hence form. These
can be separated surgically and maintained by the insertion of an IUD.

Summary of clinical management

Exclude pregnancy
Ask about postmenopausal symptoms
Take of a history of weight changes, drugs, medical disorders and
thyroid symptoms
Carry out an examination of height, weight, visual fields and
presence of hirsutism or virilisation. Also carry out a pelvic
examination.
Check serum FSH, LH, prolactin, testosterone, thyroxine and TSH
Arrange a transvaginal ultrasound scan, looking for polycystic
ovaries.
Review the results
If the tests are normal consider the following causes weight loss,
depression, emotional disturbances, extreme exercise, ashermans
syndrome (the uterine adhesions) and idiopathic amenorrhoea.

If the ultrasound scan shows a large ovary or multiple cysts then consider
PCOS

If there is elevated PRL consider hyperprolactinaemia
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If there is elevated FSH consider if early menopause

Abnormal TFTs consider treatment for this.

In the majority of patients with secondary amenorrhoea the investigations
will fail to demonstrate any significant endocrine abnormalities. Here
there is probably a disturbance of the normal feedback mechanisms of
control. Undue sensitivity of the hypothalamus and pituitary to the
negative feedback suppression of endogenous oestrogen may result in
impaired gonadotrophin secretion which is inadequate to stimulate
gonadotrophin development and results in cycle initiation failure.

Chapter 8 Infertility

Infertility can be defined as the inability of the couple to conceive within 2
years of beginning regularly unprotected sexual intercourse. A couple can
have primary infertility (no previous pregnancies) or secondary infertilities
(had at least one previous pregnancy). Infertility is rarely absolute and
most couples have some degree of fertility. Around 84% of the normal
fertile population will conceive within one year and 92% by the 2 years.
Fecundability is the percentage of women exposed to the risk of
pregnancy for one menstrual cycle who will subsequently produce a live-
born infant (15-28%). This usually diminishes slightly with each passing
month of not conceiving.

Normal fertility usually declines with age. A woman is born with a finite
number of oocytes (1 million falling to 250,000 at puberty). The
menopause is reached when this number falls to around 1000. The loss is
relatively constant throughout life until around the age of 37 when the
rate of loss increases. The average age of menopause is 57 and at this
point there are no functioning oocytes. There is a small but noticeable fall
in fecundity rates from the age of 31 years and this is more pronounced
after 36, becoming very steep at 40. There is also an increase in
spontaneous abortion as maternal age increases.

The major causes of fertility are ovulation defects, a male factor, tubal
disease, endometriosis, unexplained or other.

History and examination factors that provide a clue towards aetiology
include height and weight (high or low BMI are bad), body hair
distribution (hyperandrogenism), galactorrhoea (hyperprolactinaemia),
uterine structural abnormalities and a fixed or tender uterus. Male factors
include an abnormal scrotum (varicocele), size of testes (small may
indicate oligospermia), position of testes (undescended) ad prostate
(chronic infection). Other important factors include a womans age,
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duration of infertility (generally the longer the period the poorer the
prognosis).

Examination of a women height and weight should be recorded and any
change in weight also assessed (>10% can lead to menstrual
disturbances if over 1 year or less). Other examinations are mentioned in
the previous paragraph

Examination of a man this is not essential in the absence of any
relevant history. If, however, the semen analysis is abnormal then
examination of the genitalia may be helpful, looking specifically at size,
consistency and position of the testes, the outline of the epididymis and
finally the scrotum itself.

Investigations

Baseline
Female:
Early follicular phase LH, FSH and oestradiol
Rubella
Luteal progesterone level
Test of tubular patency
Male:
Semen analysis x 2

Male factors

Classification male factors infertility can be a problem of sperm
production, function or delivery. Sperm production may be completely
absent (azoospermia) but more commonly patients present with a
reduced sperm count of normal appearance. Secondly a large amount of
sperm may be poorly motile (asthenospermia) or morphologically
defective (teratospermia). The current method to monitor sperm function
is by measuring their movement, speed and progress but this does not
assess their actions. Problems with delivery may be due to blockage,
impotence or an inability to have sexual intercourse.

Semen analysis Even with a low sperm density 19% can father a child
compared to 43% of those with sperm counts >5 million/ml. Only when
motility is below 20% and morphology below 15% does the basic analysis
have any predictive value. If an abnormal result is obtained then a second
count should be taken 3 months later as this is the period of
spermatogenesis. Samples should be from masturbation or sexual
intercourse into a non-lubricate condom. Antibodies can be developed
against sperm in response to injury or infection of the testis. Men who
have a vasectomy are most commonly affected (if they want it reversing).

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Female factors

Causes of anovulation ovarian failure is found in around 50% of patients
with primary amenorrhoea and 15% of those with secondary
amenorrhoea. Most patients with primary amenorrhoea have an
established diagnosis before presentation (e.g. Turner syndrome). In
secondary failure there may be an obvious cause such a surgery,
radiotherapy or chemotherapy. In some patients there will be no
explainable reason.
Weight related anovulation weight plays an important part in the control
of ovulation and a minimum degree of body fat is required to maintain
ovulation. Low weight leads to a reduction of LH from low LHRH
production and as a result the ovaries develop a multifollicular
appearance. Prolonged exercise can also cause this. Excessive weight can
have an adverse affect due to increases oestrogen generated by the
adipose tissue. Weight can reduce the chance of pregnancy, increase the
risk of miscarriage and increase the incidence of obstetric complications.
Polycystic ovarian syndrome 50% of presenting patients with
anovulation have PCOS.
Luteinized unruptured follicle syndrome in some patients the follicle
may be maintained following the LH surge and the follicle hence persists
into the luteal phase.
Hyperprolactinaemia makes up 10-15% of secondary amenorrhoea
cases and about 1/3 of these will have galactorrhoea and occasionally
visual impairment from pituitary involvement.

Tests of ovulation

The only true proof of ovulation is pregnancy. However there are
numerous tests to suggest it is occurring. Firstly over 90% of women with
a regular menstrual cycle will ovulate spontaneously. LH kits can be used
to pick up the mid-cycle surge of LH that starts the reactions leading to
ovulation. The most commonly used test is the mid-luteal phase
progesterone. A luteal phase progesterone value of greater than 28
nmol/l is found in conception cycles and as a result this value is generally
accepted as evidence of satisfactory ovulation. The blood sample should
be taken 7-10 days before the next period. Ultrasound tests and
measuring a womans temperature can also be done.

Testing ovarian reserve

Checking the level of FSH at the start of cycle is probably the most
common test of this. A raised FSH over days 2-5 indicates impaired
reserves. Other methods include an antral follicle count, measuring
ovarian volume and measuring the concentration of anti-Mullerian
hormone.

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Further investigations:
Pelvic ultrasound may reveal ovarian pathology
Chlamydia serology may indicate tubal pathology
Serum testosterone is indicated if there is evidence of hirsutism
Thyroid hormone is useful to check
A progesterone challenge can be done in patient with a normal FSH
level but amenorrhoea. It helps determine if a patient is clinically
oestrogenized and results in an induced withdrawal bleed.

Tubal patency

The fallopian tube can become blocked anywhere along its length. A tubes
patency can be assessed once there is an absence of positive history of
pelvic pathology, a negative physical exam and negative chlamydia
antibody titre. Hysterosalpingography and hysterosalpingo-contrast
sonography are two investigations which both involve using cannulae to
pass fluid through the cervix and into the uterus to demonstrate the
outline of the fallopian tubes. A diagnosis laparoscopy remains the golden
standard as it provides a direct view of the pelvic orders.

Treatment

Approximately 1/5 patients conceive whilst being investigated. For those
who do not the appropriate treatment is needed to match the reason for
infertility.

Anovulation there are several ways of inducing ovulation depending on
the cause and this should be continued for 12 months to give the
optimum chance for conception. Hyperprolactinaemia is treated with
dopamine agonists and body weight should be corrected to within an ideal
range. Anovulation in an oestrogenized patient is usually due to PCOS and
so the first line treatment here is anti-oestrogen therapy, usually with
clomifene citrate. This increases plasma FSH by competitive blocking the
negative feedback effects of endogenous oestradiol on the hypothalamus.
FSH is the principle hormone needed for follicular recruitment and
development. A daily dose is given for 5 days at the start of a cycle and
ovulation can be achieved in around 80% of cycles. There is however a
risk of multiple pregnancy and several side effects including hot flushes,
pelvic discomfort, nausea and breast discomfort.

Gonadotrophin treatment is another option and involves given FH IM
followed by hCG when the Graafian follicle reaches maturity, replacing the
normal LH surge.

Tubal disease

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Tubal surgery is available for blockage but the patients need to be
selected carefully. Even doing this only gives a success rate of 40%. IVF
treatment is much more effective in these women.

Male factors problems

Azoospermia and a raised serum FSH this signifies speramtogenic
failure and this can be confirmed by testicular biopsy. Occasionally islands
of spermatogenesis can be found and extracted for ICSI as part of the IVF
treatment.

Azoospermia and a normal FSH this signifies a block of the vas deferens
or epididymis, most commonly found in males with a vasectomy. Even if
this is reversed the success rates are generally poor. If surgery is not an
option then sperm aspiration is possible

Assisted conception

Intrauterine insemination used to treat couples with unexplained
fertility, a mild male factor, those with coital difficulties and those with
mild endometriosis. Sperm is sampled and a good quality sample is
produced before this is directly placed into the uterine cavity via catheter,
either in conjunction with natural or induced ovulation. Birth rates are
around 8-9% per cycle but multiple pregnancy rates are common if
ovulation is induced.

IVF indications include male factor infertility, severe endometriosis,
failed ovulation induction, long history of un-explained infertility,
preimplantation diagnosis of genetic disease, surrogacy and egg donation.
The technique involves recruiting a cohort of antral stage follicles. This is
achieved by an injection of FH. A GnRH agonist is also used to block a
surge of LH. Once done a hCG injection is given which is given 36 hours
before oocyte recovery. During super ovulation each ovary enlarges to
the size of a tennis ball and the eggs are collected through the vaginal
vault under heavy sedation. Excess eggs are frozen. Sperm are collected
and added to a test tube with the egg which s then left for 16 hours to
check for fertilisation. It is then put in an incubator for 24-48 hours until it
reaches the day 5 stage. A max of 2 embryos are recommended for
implantation due to the high risk of multiple pregnancy but certain women
may only be given one. The hCG can be continued at day 14 when the
result of a pregnancy test is known. The success rate overall can be as
high as 43% but the main prognostic factor is maternal age. The
cumulative success rate after 6 attempts is 35-79%.

Several other variants are available including:
Gamete intrafallopian tube transfer IVF but then the oocyte and
sperm are returned to the fallopian tube
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Zygote intrafallopain tube transfer same as above but the egg is
fertilised
Intracytoplasmic sperm injection this is where sperm are
recovered from the testis by a needle and injected into the egg.

Preimplantation genetic diagnosis couples who have had a history of
failures or have a significant genetic disease may benefit from this. It
involves the use of genetic markers using FISH to detect high risk
haplotypes. Unaffected embryos are then cultured and implanted.

Side effects of assisted conception approximately 25% of all IVF
pregnancies are twins and there are a few triplets. Ovarian hyper
stimulation syndrome can occur but is rare <1%. This is where this is
maturation of more than 30 follicles causing discomfort along with very
high oestrogen and progesterone. This can lead to a fluid shift and
hypovolaemia.

There is no evidence of increased fetal abnormalities in IVF children

Chapter 9 Contraception and sterilisation

Hormonal methods of contraception

Combined oestrogen-progesterone methods (pills and patch)

The COCP contains both oestrogen and progesterone in various
quantities. Progesterone can be a second, third or fourth generation
subtype. The third generation were produced as they were thought to
have fewer adverse affects on lipids than earlier preparations. However
they were shown to slightly increase the risk of venous thromboembolism
(VTE). This is thought to be that these progesterones are less effective at
combating the thrombotic effect of the oestrogens in the pill. Although the
risk of VTE is 3-5 times higher with COCP usage, the actual risk is very
small (15-25 in 100,000 per woman year, the pregnancy value is 60!).

A monophasic pill is recommended as a first line COCP. These have a
lower risk of VTE and can be started up to and including day 5 of the cycle
to provide immediate contraceptive cover. If started after that time then
condoms or abstinence is recommended for the following 7 days. Most
COCP packages contain 21 pills which are taken one each day followed by
a 7 day pill free interval. A withdrawal bleed usually occurs in the period
due to endometrial shedding. Women should be encouraged to take the
pill at the same time each day. In general one pill can be missed at any
time in a packet without loss in efficacy or the need to use condoms. If 3
or 4 pills are missed then it depends on when in the cycle they are
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missed. If in with first week then use emergency contraception. If in week
2 then up to 7 can be missed and there is no need for EC. If in the third
week then the pill free interval should be omitted.

Risks

Halves the risk of ovarian and endometrial cancer whilst reducing
colorectal cancer risk. Increases the risk of cervical and breast cancers,
Increases the risk of VTE, ischaemic stroke and coronary artery disease..

Drug interactions

Liver enzyme inducing drugs (including some anti-epileptics, some anti-
retrovirals and rifampicin) accelerate the hepatic breakdown of
contraceptive steroids thus potentially reducing the efficacy of COC. The
options for these women include increasing the dose of EE to 50-60
micrograms per day (usually two pills) although this is used off licence. In
addition it is recommended to reduce the pill free interval and use
condoms. Other contraceptives could be used as an alternative that are
not affected by hepatic breakdown and these include progesterone-only
injectables, the progesterone IUD and the copper IUD.

The bacterial flora is involved in the breakdown of EE in the large bowel
and this facilitates secondary absorption of EE. Non-liver enzyme inducing
antibiotics alter this flora and reduce the secondary absorption of EE. The
effectiveness of the COCP must be assumed to be reduced if used short
term (<3 weeks) and for 7 days after course completion. If a pill free
interval falls within these 7 days then it should be omitted and barrier
contraceptives used also. If taken continuously for 3 or more weeks then
the gut flora can be assumed to have returned. Condoms are needed for
at least 4 weeks following the cessation of liver enzyme inducing drugs.

Follow up

A 12 month supply of COC can be given at the first visit but generally a
review is had at 3 months to assess problems and to reinstruct if needed.
BP should be assessed annually. The COC should be stopped and an
alternative method used at least 6 weeks before any planned major
elective surgery where immobilisation is expected, although realistically it
is better to not be pregnancy than have a slightly higher risk of VTE.

COC patch

The risks and benefits are as above. The patch can be placed on the
abdomen, buttock or thigh on the same day each week and lasts 7 days.
Three patches are used followed by a week without one. A single patch
can however provide cover for up to 9 days.
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Progesterone only contraception

These avoid the potential side effects attributed to oestrogen. All these
products can be associated with a disturbance in bleeding patters and this
is often the main reason for discontinuation of these otherwise very
effective methods. The effect of liver enzyme inducing drugs is similar to
that for oestrogens. The injection and IUD are not affected by liver
enzyme inducing medication. Progesterone is not reabsorbed from the
bowel so non-liver enzyme inducing antibiotics are not a problem.

Progesterone only pills (POPs)

They are suitable for most women but most often used in those where a
COCP is contraindicated (breastfeeding, hypertensive, >35 years who
smoke or have a migraine without aura or for women of any age with
migraines with auras). All POPs thicken cervical mucus, thus preventing
sperm penetration into the upper reproductive tract. Traditional POPs
inhibit ovulation in up to 60% of cycles. A POP should be taken at around
the same time every day without a pill-free interval and can be started up
to and including day 5 of the cycle to provide immediate contraception. If
started at another time then other contraceptive methods are needed for
the first 48 hours. A traditional POP is late if 27 hours have lapsed.

Progesterone only injectable contraception

This is given IM every 12 weeks and is licensed for short term use only.
Its primary mode of action is to inhibit ovulation. Bleeding is common in
the initial months of use but usually settles with 70% of women being
amenorrhoeic at 12 months. There is a delay in return to fertility after
stopping but no longer term reduction in fertility. The delay can be up to
6 months after stopping. There is also a reversible loss in bone density
associated with its use but there has not been shown to be an increased
fracture risk.

Progesterone only subdermal implants

It is made from a non-biodegradable polymer which contains an active
slow release progesterone formulation and is about the size of a
matchstick. It provides contraception for up to 3 years. Changes in
bleeding patterns are common and discontinuation because of this is
common (up to 43% in 3 years). Up to 20% of users will have no
bleeding but almost 50% have infrequent, frequent or prolonged
bleeding. These patterns may not settle with time. There is no association
between the implant and weight changes, mood changes, loss of libido or
headache.

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Progesterone IUD

This is a highly effective reversible contraceptive method and is licensed
for 5 years of use. Failure rates are very low at <1% at 5 years. The
primary action is the effect on the endometrium and this prevents
implantation. In addition effects of cervical mucus reduce sperm
penetration. Ovulation may be inhibited in up to 25% of women. Irregular
bleeding is common during the first few months after insertion.
Intramenstrual bleeding occurs frequently but this usually settles after 5
to 6 months. Menstrual loss is reduced by 90% at 12 months and 20%
experience complete amenorrhoea. Complications include expulsion,
perforation and infection, similar to a copper IUD.

Copper IUD

Copper is toxic to the ova and sperm and works primarily by inhibiting
fertilisation. In addition the endometrial inflammatory reaction has an
anti-implantation effect and alterations in cervical mucus inhibit sperm
penetration. Failure rates at 5 years are very low. Devices in the UK can
be used for up to 10 years and there is no delay in the return of fertility
after removal. Spotting, light bleeding or heavier or prolonged bleeding is
common in the first 3 to 6 months or use but this ma settle. There are
few contraindications.

Insertion this should be done by a trained individual. It can be
uncomfortable so pain relief is needed. Emergency equipment is needed
in case of perforation.

Expulsion and perforation the risk of expulsion is around 1 in 20 and is
most common in the first year, particularly the first 3 months. The risk of
perforation is 2 in 1000 and most occur during insertion.

Pelvic infection there is an increase in infection in the 20 days following
insertion but after this the risk is the same as for the normal population.

Pregnancy an IUD failure pregnancy is rare but the chance of having an
ectopic is higher. The risk is actually reduced compared to using no
contraception but is proportionally higher here as the uterus is more
protected by the IUD. If the pregnancy is inter-uterine then there is a
considerable risk of spontaneous miscarriage and preterm labour.
Removal decreases these risks and should be done ASAP.

Barrier methods

Male and female condoms used consistently and correctly male
condoms are up to 98% effective and female condoms 95%. They also
reduce the risk of STIs although do not completely eliminate it. Women
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using condoms as a sole contraceptive should be given provision of
emergency contraceptive.

Female diaphragms and caps these require a high degree of user
motivation and failure rates are comparable to those seen with male
condoms. They are divided into two groups: the diaphragm and those
that cover the cervix (caps). The diaphragm is a soft dome surrounded by
a metal spring that presses against the vaginal wall. It lies across the
vagina from the pubic symphysis to the posterior fornix but does not
create a complete barrier. Caps depend on suction to hold them over the
cervix or vaginal vault. When used correctly and with spermicide the
success rate s 92-96%. There is very limited evidence to show these
protecting against STIs.

Spermicides used with caps and diaphragms and is not a contraceptive
by itself. The only version in the UK is N-9 but can cause epithelial
disruption and damage. This can lead to genital lesions which increase the
risk of acquiring an STI.

Natural planning Intercourse should be restricted to certain days of the
cycle. The woman assesses her cervical mucus throughout the cycle. Prior
to ovulation (fertile period) the mucus is clear and watery and is easily
stretched. After ovulation it is thick and sticky. This knowledge can help
plan where intercourse is ok. Lactational amenorrhoea is another very
effective technique (98%) if the woman is breast feeding day and night
on demand with no supplementary feeds, she is less than 6 months
postpartum and she is amenorrhoeic. Another conceptive is needed if
menses occur (bleeding within 56 days is not counted) or with the
introduction of weaning or after 6 months.

Emergency contraception this can be used after unprotected intercourse
or after accidence with a barrier method. It is also useful if the combined
pill is missed or if the progesterone pill is late. The methods are
progesterone only emergency contraception or the copper IUD.

Progesterone emergency contraception can be used up to 72 hours after
unprotected intercourse and can prevent 84% if pregnancies. The success
rates are higher the sooner it is given. Between 73 and 120 hours it can
be given but there is limited evidence of efficacy. Women who vomit
within 2 hours need another dose. EC does not provide cover for the
remainder of the cycle so contraception is needed.

Copper IUD this can be inserted up to 5 days after first episode of
unprotected sex or up to 5 days after the date of predicted ovulation and
is almost 99% effective.

Sterilisation
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Female sterilisation women should be informed that vasectomy carries a
lower failure rate and that there is less risk related to the procedure.
Women need to be informed of the risks of laparoscopy and the chances
of laparotomy being needed, particularly if they are at a higher risk e.g.
obese. Women need to be told the failure rate is around 1/200 lifelong.
The overall risk of an ectopic is not increased compared to not using any
contraception but if tubal occlusion does fail then the pregnancy may be
ectopic. Although women requesting sterilisation should know it is
permanent, they should also be given information on reversal success
rates. Tubal occlusion is not associated with an increased risk of heavier
or longer periods when performed after 30 years of age. Sterilisation can
be performed during a caesarean section.

Vasectomy this has an associated failure rate of 1/2000 but pregnancies
can occur years after. Men should be advised to use appropriate
contraception until azoospermia has been confirmed on two separate
samples 3 months apart. This is no increased risk of testicular cancer or
heart disease but there may be chronic testicular pain. Testosterone
concentrations are not affected.

Chapter 10 Miscarriage

Miscarriage is common, occurring in as many as 25% of all pregnancies.
Clinical management must be founded on two important points:
Care must be taken not to advise uterine evacuation if there is any
possibility of fetal viability. It should not be assumed that a
pregnancy is non-viable simply because the gestation does not
agree with the expected dates
There should be a low threshold of suspicion for ectopic pregnancy.
The absence of an ectopic on ultrasound does not mean there is not
one there

Miscarriage can be defined according to the gestation or the weight of the
fetus. The WHO definition is the expulsion from its mother of an embryo
or fetus weighing 500g or less (approx the 50
th
centile at 20 weeks). In
the UK a pregnancy loss before 24 weeks is regarded as a miscarriage
and any fetus born at or after 24 weeks is registered as a stillbirth.
However a loss can be considered a live birth if there are signs of life after
delivery, even if before 24 weeks. Miscarriage is typically classified as:
Threatened vaginal bleeding and an ongoing pregnancy
Inevitable the cervix is dilated
Incomplete passage of some but not all the products of
conception
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Complete all products of conception have been expelled from the
uterus
Missed (silent) where the fetus has died in utero before 20 weeks
but has not been expelled (anembryonic) is a type of missed
miscarriage in which embryonic development fails at a very early
stage in the pregnancy
Septic a complications of incomplete miscarriage or therapeutic
abortion (usually illegal) where intrauterine infection occurs
Recurrent three or more consecutive miscarriages

Incidence around 10-25% of pregnancies end is miscarriage and the
risk is highest in early pregnancy, falling with increasing gestation. The
ratio may however be much higher as many pregnancies may abort
before being recognised (up to 50-60%). The incidence also increases
with maternal age such that someone over 40 is 10 times or likely than
someone under 35. If a fetus is found to be viable on ultrasound then the
chance of a successful outcome is high.

Recurrence risk very few couples have a specific reason for miscarriage
so couples should be encouraged to continue trying and the outlook for
future pregnancies is very good. A woman experiencing her first
miscarriage generally does not have an increased risk of future
miscarriages.

Aetiology

Fetal chromosomal abnormalities about 50% of all clinically recognised
first trimester losses are chromosomally abnormal, with half being
autosomy trisomy, 20% 45XO monosomy, 20% polyploidy and 10% with
various other abnormalities. In second trimester miscarriage the incidence
of chromosomal abnormality is lower at about 20%.

Endocrine factors women with PCOS have an increased incidence of
both sporadic and recurrent miscarriage and, although this has been
attributed to high circulating levels of LH in the follicular phase of the
cycle, there is no evidence of any effective therapy. Inadequate luteal
function has been reported in association with recurrent miscarriage in
20-60% of cases. In women with DM who have poor control there is a
higher incidence of miscarriage at around 45% but it is no higher than the
general population if control is good. There is no clear association
between thyroid dysfunction and miscarriage.

Immunological causes

Autoimmune disease approximately 15% of women who are
investigated for recurrent miscarriage are found to be positive for lupus
anticoagulant, antiphospholipid antibodies, or both. Untreated they have a
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subsequent fetal failure rate of 90%. Effective treatment is with low-dose
aspirin or LMWH. These antibodies are also associated with arterial and
venous thrombosis, fetal growth restriction, pre-eclampsia and
thrombocytopenia. This lupus antibody is not associated with SLE.

Alloimmune disease immunological tolerance of pregnancy is partly
related to the special properties of the fetomaternal interface. The lack of
classic major histocompatibility antigen from the trophoblastic cells of
chorionic villi and the present of antigen, encoded by paternal genes,
which are thought to stimulate production of blocking antibodies are two
key mechanisms. If this complex goes wrong then there may be maternal
rejection of the fetus.

Uterine anomalies structural anomalies may cause miscarriage in a few
instances, particularly if the loss is in the second trimester. Uterine
fibroids may interfere with early pregnancy growth but the extent to
which they cause miscarriage is difficult to determine because of other
associated factors such as age, hormonal dysfunction and subfertility.

Infections any serious maternal infection causing high fever at any time
during pregnancy may adversely affect the fetus and lead to pregnancy
loss. There are a number of specific maternal infections which may
precipitate miscarriage and these are rubella and CMV. These can also
cause fetal anomalies. Malaria, trypanosomiasis, chlamydia, mycoplasma,
listeria and syphilis can all be implicated in pregnancy loss.

Environmental pollutants smoking, both active and passive, and high
alcohol consumption are associated with higher rates of spontaneous and
recurrent miscarriage.

Unexplained at least 50% of either sporadic or recurrent miscarriage
are unexplained.

Clinical presentation

There is usually a history of bleeding per vagina and lower abdominal
pain. The passage of tissue is sometimes reported. The bleeding can vary
from being life-threateningly severe, requiring urgent and aggressive
resuscitation, to the smallest brown spotting. Occasionally there may be
no symptoms at all and an empty gestational sac or fetal pole with absent
fetal heartbeat.

Empty gestational sac this means the pregnancy is likely to be non-
viable but the pregnancy needs to be 6+ weeks to be certain as this is
when fetal poles would be expected.

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Empty uterus either there has been a complete miscarriage or the
pregnancy is very early or there is an ectopic. An intrauterine sac will
usually be seen on scan if the hCG is >1000IU and its absence raises the
possibility of ectopic pregnancy. Serum levels of hCG usually rise by more
than 66% in 48 hours if the pregnancy is viable and intrauterine with a
smaller rise suggesting an ectopic. If the levels double and the women
remains well then the US should be repeated in 1 week. If less than
doubling but slowly increasing then a laparoscopy should be considered.

Management of early pregnancy loss

There are three main options available: surgery uterine evacuation,
conservative management or medical uterine evacuation with
mifepristone and a synthetic prostaglandin. With conservative
management the women needs to be warned that the onset, duration and
magnitude of the inevitable bleeding are unpredictable.

Rhesus isoimmunisation may occur if a rhesus negative woman has lost
a rhesus positive fetus. As there is no practical way of determining the
fetal blood group in miscarriage, all rhesus negative women should be
offered anti-D Ig as appropriate.
Confirmed miscarriage given to non-sensitised women who
miscarry over 12 weeks (complete or incomplete) and to those
below 12 weeks where the uterus is evacuated
Threatened miscarriage given to all after 12 weeks and is not
required before 12 weeks unless the bleeding is heavy or associated
with abdominal pain.

Septic abortion this is rare but there is pyrexia, tachycardia, malaise,
abdominal pain, marked tenderness and a purulent vaginal loss.
Endotoxic shock may develop and there is significant maternal mortality.
The responsible organisms include gram-negative strep and other
anaerobes.

Recurrent spontaneous miscarriage this is the consecutive loss of three
or more fetuses weighing less than 500g. The incidence of 1% is greater
than what would be expected by chance along (0.34%). Investigations
need to include:
Karyotype of both parents to check for a balanced translocation (3-
5%)
Maternal blood for lupus anticoagulant and anticardiolipin
antibodies. When treated with aspirin there is a 40% success rate
and this rises to 70% if LMWH is used.
Thrombophilia screen
Pelvic ultrasound to check for abnormalities of the uterus.

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Amongst women with mid-trimester loss the possibility of cervical
incompetence needs to be considered. This means the internal os of the
cervix is unable to retain the pregnancy within the uterus and this is
supported by a history of relatively painless cervical dilatation and prior
cervix surgery. There is no good investigation to prove incompetency. A
cervical suture can be of benefit but risks introducing infection.
Transabdominal cerclage is also used where a vaginal approach either has
been technically not possible or a vaginal placed suture has failed.

Where no specific abnormalities are found counselling and reassurance
are the mainstays of successful management and 60-75% of women who
suffer recurrent miscarriages will have a successful pregnancy if there are
no underlying problems.

Chapter 11 Therapeutic abortion

There are over 900,000 pregnancies across the world each day with 50%
of these estimated to be unplanned and 25% actually unwanted. 150,000
pregnancies are aborted every day totalling 50 million per year. Over
100,000 women die each year due to illegal abortions. In the UK 185,000
abortions are carried out each year with the highest rate being the 18-24
year old category. About are unmarried although many of these will
have a regular partner. Almost half have already had a child and a third
have previously had an abortion. Most terminations are carried out before
9 weeks (60%) with a smaller number occurring in the second trimester
(13%).

Legal aspects

Abortion can only be carried out in the UK if certain criteria are met. The
1967 abortion act, amended in 1991, states that abortion can be
performed if two doctors agree that the pregnancy should be terminated
on one or more grounds:
A the continuance of the pregnancy would involve risk to the life
of the pregnancy woman greater than that if the pregnancy was
terminated
B the termination is necessary to prevent grave permanent injury
to the physical or mental health of the pregnant woman
C the pregnancy has NOT exceeded its 24
th
week and continuance
of the pregnancy would involve risk, greater than if the pregnancy
was terminated, of injury to the physical or mental health of the
pregnant woman.
D the pregnancy has not exceeded its 24
th
week and continuance
of the pregnancy would involve risk, greater than that if the
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pregnancy was terminated, of injury to the physical or mental
health of existing child(ren) of the family of the pregnant woman
E there is a substantial risk that if the child were born it would
suffer from such physical and mental abnormalities as to be
seriously handicapped

95% of abortions are carried out under clause C with 3% being clause D.
The abortion act does not apply to Northern Ireland where abortion is
only legal to save the mothers life. Current methods of termination are
now so safe that it is safer to have an early abortion than to continue to
term and have a delivery. Although uncommon, the abortion act also
allows an abortion to be performed after a single doctors signature in an
emergency. This may be to save a life or to prevent grave permanent
injury to the physical or mental health of a woman. 65% of the general
public and 80% of doctors have been shown to support abortion. If a
doctor does not believe in abortion then they should promptly refer the
patient to a colleague who does.

Counselling before abortion

A doctor needs to be a sympathetic but should not give directional
support so that a woman may explore her own feelings. It is important to
know the woman has not been coerced by another party such as the
partner or parents. Psychological problems and depression are not
increased after abortion but some women may experience coping
problems and distress. A woman is particularly at risk if she has a history
of mental health problems, is young, has low self esteem, is a member of
certain cultures or religions, has no close support, undergoes a late
abortion or feels there is no choice i.e. financial pressure. Agreeing a
contraceptive plan with a woman following abortion can help give a sense
of control.

Pre-abortion investigations

Blood tests haemoglobin is measured and a sample sent for ABO
and rhesus blood grouping. Women who are rhesus negative will
require anti-D immunoglobulin after the abortion. HIV,
haemoglobinopathy and other tests can also be performed if
indicated.
Estimation of gestation done by clinical examination or
ultrasound. Ultrasound is essential if there is the possibility of
ectopic pregnancy or where gestation is unclear.
Prevention of infection infection can occur in about 10% following
abortion but can be reduced with antibiotic usage. Some clinical
treat all women where as other initially screen for infection
Cervical cytology if a woman is due cytology then this should be
done at the same time
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Provision of information verbal information should be supported
with written information.

Methods of abortion

Medical abortion Mifepristone is a synthetic steroid which blocks the
biological action of progesterone by binding to its receptor in the uterus
and other organs. It is given orally under supervision. The woman is then
allowed home and returns 24-72 hours later and is admitted for
administration of prostaglandin, usually given vaginally. Bleeding usually
starts within a few hours followed by contractions which expel the fetus
and placenta. The woman normal goes home later that day. Most women
experience period-like pains but there is much variation with some
women needing no pain relief whilst others require opiates. Bleeding
usually continues for about 10 days after medical abortion.

Early medical abortion (up to 9 weeks) when a woman is less than 7
weeks then medical abortion is the most effective technique with a lower
failure rate than early surgical abortion.

Medical abortion in the late first trimester (9-13 weeks) in the past
surgical termination alone was offered here but it is now recommended
that medical abortion be offered as an alternative in the first trimester.

Medical abortion in the second trimester (13-24 weeks) traditionally this
was done with prostaglandin alone but this took several days. Giving
Mifepristone prior to prostaglandin has been shown to reduce the length
of time for the abortion to occur.

Surgical abortion

Surgical abortion below 7 weeks gestation has a higher failure rate than
for later procedures and medical abortion. For these reasons it is usually
delayed until week 7. This is performed using a narrow suction curette of
4 or 5mm diameter, inserted into the uterus under local paracervical
block. The early pregnancy is aspirated using a 50ml syringe. It is very
important to ensure the abortion is complete either by identifying the
products of conception or by hCG follow-up.

Surgical abortion at 7-14 weeks this is performed by suction or vacuum
aspiration using a flexible suction curette and a mechanical or electrical
pump. This is inserted after cervical dilatation and the contents are
aspirated. The procedure is usually done under GA but local or conscious
sedation can be used. Complications increase with advancing gestation
and some doctors do not offer surgical termination beyond 12 weeks.
Cervical treatment with prostaglandin before surgical abortion reduces the
risk of cervical trauma and uterine perforation and should certainly be
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used when the woman is under 18 years old or gestation is above 10
weeks.

Late surgical abortion 15-24 weeks cervical preparation followed by
dilatation and evacuation can be offered in the second trimester. It is the
method of choice in the USA but in the UK it is limited. The advantages
are that the woman is unaware of the procedure but the cervix does need
extensively dilating up to 20mm.

Complications

The risk of complications is generally low and the termination is actually
safer than continuing the pregnancy to term.

Retained products of conception this is the most common complication
and occurs in 5%. It is more common after medical abortion and when
surgical abortion is carried out at a very early gestation. Some women
with retained products will require (further) surgical evacuation of the
uterus, particularly if there is prolonged or heavy bleeding. Many women
will pass the retained tissue spontaneously. Antibiotics can be given to
reduce the risk of secondary infection until the tissue is passed.

Failure of abortion this is unusual but occurs in 2.3 per 1000 women for
surgical abortion and 1-4 per 1000 for medical abortion. Women should
be advised on the importance of return for follow up, particularly if there
was doubt over completeness or continuing signs of pregnancy.

Post-abortion infection pelvic infection can occur in up to 10% but this
has halved with pre-abortion STI screening and the use of antibiotics at
the time of termination. Women should be advised about signs of
infection such as pyrexia, pelvic pain and offensive vaginal discharge.

Haemorrhage occurs in around 1 in 1000 cases and is more common if
abortion is done at a later gestation.

Trauma to the genital tract perforation of the uterus happens in 1 in
1000 surgical cases and is more common with later gestation abortions.
Cervical trauma is also uncommon and is reduced by cervical preparation
with prostaglandin.

Future fertility there is no association between previous termination and
future infertility, ectopic pregnancy or placenta praevia. There may be a
slight increase in the risk of miscarriage and preterm delivery with late
abortions.

Psychological sequelae there is no evidence of lasting harm.

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Abortion aftercare

A follow up visit at about 2 weeks can be offered to all women to check
for complications and encourage the use of contraception. This can be
with the GP, family planning clinic or abortion service.

Post abortion contraception

All methods of hormonal contraception (COCP, POP, implant and injection)
can be started on the day of surgical abortion, or on the prostaglandin
treatment day of medical abortion with immediate contraceptive cover.
IUDs can be fitted immediately following termination. Condoms can be
used immediately following termination. Women are usually advised not
to use a diaphragm for 6 weeks in case refitting is required. Decisions
about sterilisation are best delayed until 6 weeks after termination as
there are higher failure rates and a later regret is common.

Chapter 12

The normal human sexual response can be regarded as having five
phases: desire, arousal, orgasm, resolution and the refractory phase.

Desire
This refers to the general level of interest in sexuality. It is modulated by
hormones hence the change in sexual interest at puberty. The main
modulator in both sexes is testosterone.

Arousal
This phase has three components: central arousal, genital response and
peripheral arousal.

Central arousal refers to the response to sexual stimuli, which may be
visual or tactile or may result from internal imagery or from a
relationship. These stimuli act through the cerebral cortex. The areas of
the brain involved in sexual arousal are thought to be in the limbic
system. There are thought to be excitatory centres with endorphins as the
neurotransmitter, and inhibitory centres linked to the centres for pain and
fear.

Genital response: the spinal pathways leading to the genitalia are not
precisely known but appear to be near the spinothalamic pathways for
pain and temperature. Genital responses are due to vasocongestion and
neuromuscular changes. Arteriolar dilatation is probably controlled by the
parasympathetic sacral outflow at S2, 3, 4. The local neurotransmitters
involved include vasoactive intestinal polypeptide, a potent vasodilator
found in the penis and vagina. In the male engorgement of the corpora
cavernosa is due mainly to arteriolar dilatation and probably a reduction
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in the venous outflow. The scrotum tightens due to contraction of the
dartos muscle and the testes are elevated due to contraction of the
cremaster muscle. In the female there is engorgement of the venous
plexus surrounding the lower part of the vagina, and of the erectile bulbs
of the vestibule on either side of the introitus. There is reddening and
pouting of the labia minora. The clitoris becomes erect and later is said to
retract against the symphysis pubis.

The vagina becomes lubricated by a transudate as the blood supply to the
vaginal wall increases. The fluid is not the product of mucous glands.
Mucus secretion from the cervix makes relatively little contribution to
vaginal lubrication (therefore hysterectomy has little effect). Secretion
from Bartholins glands is only moderate in amount and occurs relatively
late during arousal. Relaxation of the womans pelvic floor muscles occurs
after vaginal lubrication has started. In the later stages of arousal the
uterus becomes engorged, increases in size and rises in the pelvis. The
upper part of the vagina balloons and there may be slow irregular
contractions of the lower third of the vagina.

In both sexes, but particularly in males, the genital response interacts
with the central response, so that arousal becomes self amplifying.

Peripheral arousal: sexual arousal leads to a rise in SBP and DBP, general
flushing of the skin, change in HR, respiratory changes and pupillary
dilatation.

Plateau phase: when arousal is complete there may be a plateau phase
during which the couple prolong the pleasure of intercourse before
orgasm. If this continues too long however, coitus may become painful for
one or both partners.

Orgasm

This involves genital, muscular and sensory changes, as well as
cardiovascular and respiratory responses.

In the male firstly there is smooth muscle contraction of the epididymis,
vas deferens, seminal vesicle, prostate and ampulla, propelling seminal
and prostatic fluid into the urethral bulb. The male becomes aware that
orgasm is imminent and ejaculation usually follows within seconds. The
internal bladder sphincter remains shut but the external sphincter relaxes
and semen is propelled along the urethra by rhythmic contractions of the
bulbospongiosus and ischiocavernosus muscles.

In the female a few seconds after the onset of the subjective experience
of orgasm there is a spasm of the muscles surrounding the lower third of
the vagina, followed by a series of rhythmic contractions, usually five to
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eight in number. These do not expel fluid from the vagina. Uterine
contractions may also occur.

In both sexes there is contraction of rectus abdominis, pelvic thrusting,
contraction of the anal sphincter and sometimes carpopedal spasm. SBP
and DBP rise by at least 25mmHg and hyperventilation occurs. There is a
feeling of intense pleasure and an alteration of consciousness to a
variable degree.

Resolution

The events of arousal are gradually reverse. In men there is a moderate
immediate loss of erection, followed by a slower complete reversal. In
women, if no orgasm has occurred, pelvic congestion may take hours to
resolve and may be uncomfortable. In both sexes there is a subjective
feeling of relaxation, though its duration may differ between the man and
woman.

Refractory phase

There follows an interval during which further stimulation does not
produce a response. In men this varies from minutes in young men to
many hours in older men. Some women do not experience a refractory
period, but only a minority of women (14%) can have multiple orgasms.

The effect of age

Normal sexual behaviour differs from couple to couple. It also alters with
age and with evolution of a sexual relationship. Patients may present with
problems due to difficulties adjusting to the change from one phase to the
next phase of a relationship.

Adolescence this group has a high capacity for sexual arousal and a
need to find out whether he or she is sexually attractive. Unsatisfactory
sexual experiences at this time can lead to continuing problems later.

The couple this group needs to quickly learn how to alter their sexual
behaviour to prevent dysfunctional patterns developing for example
premature ejaculation.

Early parenthood it can take a year or more for sexual interest to return
and there may be problems such as a painful episiotomy, tiredness or
difficulty coping.

Middle age sexually activity becomes less frequent and this may cause
anxieties. After the menopause there may be a reduction in sexual
interest or a problem with vaginal dryness.
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Old age loss of erectile capability increases with age and may also be
due to physical disease.

History taking

Some sexual problems may present disguised as another symptom such
as pelvic pain, or are discovered apparently fortuitously, for example
when a routine inquiry is made about contraception. Routine questions
may include Do you have any trouble with intercourse? or, if appropriate,
Is this symptom worse after intercourse? A sympathetic but matter of
fact approach may help to reduce this embarrassing experience for the
patient. Initially partners should be interviewed separately before
considering seeing them together.

Sexual problems

This can be divided into sexual variations and sexual dysfunction.

Sexual variations

Homosexuality problems encountered here are sexual dysfunction or
dissatisfaction with their sexual orientation.

Transsexuality this is where the patient believes that they are of the
opposite gender.

Transvestism dressing up as the other sex

Sadomasochism moderate pain inflicted during sexual arousal

Fetishism very rare to occur in women

Sexual dysfunction

This may be due to psychological or relationship problems or may have a
medical or surgical cause. It is so common as to be almost physiological.
Not everyone with sexual dysfunction considers that they have a problem.
The incidence of dysfunction varies with age with 50% of women being
anorgasmic (despite having sex) in their late teens but only 10% by the
age of 35. Permanent erectile impotence becomes more common with
age, the incidence rising from about 2% at age 40 to 25% at age 70 and
75% at age 80. The common disorders of sexual function can be classified
according to the physiological stages described earlier:
Impaired desire
Disorders of arousal (erectile dysfunction in men and vaginismus in
women)
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Disorders of orgasm (premature ejaculation in men, anorgasmic,
usually in women)
Dyspareunia (mainly women)

The causes of sexual dysfunction can be classified into pathological or
psychological factors but it is helpful to make a sharp distinction between
the two as they often coexist.

Pathological causes of sexual dysfunction include: acute/chronic illness,
cancer, neurological problems, endocrine problems, cardiovascular
problems, respiratory, arthritic, renal, gynaecological, amputation
amongst others. There are also many drugs including anticholinergics,
anticonvulsants, antihypertensives, NSAIDs, hormones, sedatives, opiates
and alcohol.

Psychological causes include poor sex education, sexual trauma,
psychiatric illness, childbirth, infidelity, relationship problems, anxiety,
poor communication, lack of foreplay, depression and poor information.

Female sexual dysfunction

Impaired desire this is the commonest symptom presenting to specialist
sexual medicine clinics, although it is not such a frequent symptom in
routine gynaecological clinics. A loss of libido can be primary or
secondary.

Primary: some women have never felt interested in sex and in these
cases there is usually impairment of arousal and orgasm as well. The
underlying cause is often in an upbringing in which sex was regarded as
dirty. The woman may choose a partner who also has an apparently low
sex drive.

Secondary: more commonly, loss of libido follows an interval of
apparently normal sex drive, during the womans teens or early 20s. Loss
of interest may occur after childbirth and postnatal depression may
exacerbate this. Other causes include depression, bereavement,
menopause, gynaecological investigation and loss of self esteem.
Sometimes there is no obvious cause. A woman who has suffered sexual
or physical abuse in childhood may present late with secondary impaired
desire. Loss of desire is often due to problems with the relationship and
counselling will be directed towards improving communication between
the two partners.

Orgasmic dysfunction

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Inability to achieve orgasm is usually associated with a lack of interest in
sex, but sometimes can be an isolated symptom in a woman who has an
otherwise satisfactory sex drive and is able to experience normal arousal.

Primary this may be due to inexperience of the woman or her partner or
unrealistic expectations. Sometimes the cause is more deep seated.

Secondary this follows a period of adequate sexual functioning and is
usually associated with decreased desire.

Situational orgasmic dysfunction some women can achieve orgasm
through masturbation but not coitus, or with one partner but not another.

Vaginismus

This is an involuntary spasm of the pelvic floor muscles and perineal
muscles provoked by attempted penetration. It is also provoked by
vaginal examination or by attempts to insert a tampon. When severe the
conditioned reflex includes spasm of the adductor muscles of the thighs.

Primary this may be due to apprehension or simple due to a failure to
control the pelvic musculature. Persistent attempts at penetration cause
more pain and a vicious cycle is set up. This may also be due to more
deep seated psychological problems such as an unwillingness to accept
sexual maturity or sexual repression in childhood.

Secondary this may follow a physically painful experience such as a
sexual assault, an obstetric problem at delivery or an insensitive VE.

Management of vaginismus the vulva and vagina should be examined
for any painful lesion, though in most cases no such cause will be found.
Most cases of both primary and secondary vaginismus respond well to
simple treatment involving training in relaxation and the use of vaginal
dilators. The woman should be helped to relax completely and the VE
should not be attempted until the muscles have relaxed. The woman is
then taught to insert a small dilator and once she is comfortable with this
she can progress to bigger sizes. During treatment she is also taught
pelvic floor muscle exercises. Attempts at intercourse should be
discouraged until she is able to insert the larger sized vaginal dilator.

Dyspareunia

Pain on intercourse is the commonest sexual problem presenting to the
routine gynaecological clinic. It is usually classified into superficial and
deep but the distinction is not always easy to make. Causes of superficial
dyspareunia include infection, atrophic changes, vulval dystrophy and
vaginismus whilst causes of deeps dyspareunia include endometriosis,
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PID, bowel dysfunction, pelvic mass and unexplained pelvic pain. With
superficial dyspareunia there is pain at the vaginal introitus on attempted
penetration, often making intercourse impossible. Deep dyspareunia is
fairly self explanatory. On bimanual palpation there may be an area of
tenderness but this can also be quite generalised.

Examination of the vulva may reveal the inflammatory appearance of
candidal infection, the lesions of herpes or the presence of atrophy or
dystrophy. Swabs should be taken and treatment given if appropriate.

Deep dyspareunia is often associated with other symptoms such as
dysmenorrhoea or persistent pelvic pain. The history should include bowel
habits and the timing of pain in relation to the menstrual cycle. The
finding of a retroverted uterus is unlikely to be significant, as uterine
retroversion is common. Occasionally however, a sharply retroverted
uterus can be the only site of tenderness. High vaginal and cervical swabs
should be taken if infection is suspected. In most cases laparoscopy is
necessary to diagnose or exclude endometriosis or PID. If laparoscopy is
negative then a high fibre diet may help even in the absence of obvious
bowel symptoms. If no other causes are found then the deep dyspareunia
may be due to too little foreplay leading to inadequate arousal and
insufficient relaxation of the upper vagina.

Male sexual dysfunction

Male sexual dysfunction can be classified as impairment of desire,
erection or ejaculation.

Impaired desire in the male, libido is dependent on normal testosterone
levels and serum testosterone should be checked in men complaining of a
lack of libido. Male libido also diminishes with age and this is not simply
due to diminishing testosterone levels.

Erectile dysfunction inability to achieve or maintain a satisfactory
erection is the commonest sex problem among men. It may be associated
with impaired desire but desire is usually normal. Indeed the anxiety
provoked by erectile dysfunction may increase his awareness of sexual
stimuli. Erectile dysfunction is usually due to physiological factors but it is
important to investigate all possible causes. If a cause is found it may
indicate a general disease which is treatable.

Physical causes of erectile failure include:
Endocrine disorders decreases testosterone or diabetes causing
neuropathy or vascular disease
Neurological disorders MS or spinal injury
Vascular disorders after and before an MI, hypertension
Drugs antihypertensives, beta blockers
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Psychiatric illness severe depression
Surgery prostatectomy need not cause impotence, particularly if it
is by the transurethral or retropubic route. A perineal prostatectomy
for cancer is a more radical operation and may cause erectile
dysfunction.
Physiological age or unrealistic expectations of the refractory
period

In addition to a full sexual history, the man should be asked about the
duration of the problems, whether it is primary or secondary and whether
it is situational. Enquiry should be made about symptoms of general
disease i.e. does exercise cause claudication.

Clinical examination should include a check for signs of systemic disease.
The genitalia should be examined for abnormalities of the penis (such as
hypospadias) or abnormally small testes. Serum testosterone should be
checked as a matter of routine and, if it is low, serum sent for FSH and
prolactin assay. Drug treatment is now often used in addition to, or
instead of, psychosexual counselling. Therapeutic options include:
Phosphodiesterase inhibitors e.g. sildenafil (Viagra). Penile erection
is due to relaxation of the smooth muscle around the cavernosal
vascular space, allowing them to fill with blood. This is under the
control of the autonomic nervous system, mediated by cyclic
guanosine monophosphate (cGMP). These drugs are taken orally
and enhance erection by blocking breakdown of cGMP. Alternatives
to sildenafil are vardenafil (Levitra) which acts more quickly, and
tadalafil (Cialis) which has a longer duration of action. They work
best in psychogenic erectile failure and milder organic problems, in
which the success rate is 85%. Side effects are generally mild and
transient and include flushing, dyspepsia, headache and disturbance
to colour vision. These drugs must not be used in men who use
nitrates or have severe cardiac disease as they may lead to a life
threatening profound drop in blood pressure.
Alprostadil (PGE
1
) this drug also relaxes cavernosal smooth
muscle but has to be injected directly into the corpora cavernosa. It
is more effective than sildenafil in erectile failure due to more
severe organic problems. It is also available as a urethral pellet but
this is much less effective
Other treatments used include vacuum devices and penile implants,
the latter only where no other treatment has been effective.

Ejaculatory dysfunction

The most common of these is premature ejaculation. Retarded ejaculation
is much less common and may be associated with other psychological
problems. Painful ejaculation is relatively rare. Premature ejaculation is
normal in early sexual experiences. It is difficult to define, and the best
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guide is if the man feels he has insufficient control to satisfy himself and
his partner. Sometimes ejaculation occurs before penetration or within a
few seconds. The cause of premature ejaculation is usually psychological,
with anxiety increasing each time the problem occurs. Treatment requires
the cooperation of the partner and it is difficult to help a man who
presents for treatment without his partners knowledge. Several
techniques can be employed including the stop start technique where he
gets close to orgasm and then stops. The second is apply firm pressure at
the level of the frenulum to retard ejaculation.

Treatment of sexual problems

Treatment can broadly be divided into two categories: counselling (which
should be within the scope of a general practitioner) and sex therapy
(which requires special training).

Counselling Simple counselling may include:
Permission giving a patient may become very anxious about some
activity such as masturbation, and may be helped to know that it is
normal. Simply talking about sexual matters in a matter of fact way
is helpful to many patients who feel they are unique in experiencing
difficulties.
Limited information an explanation of normal anatomy or
physiology may also be helpful. He or she may be reassured by an
examination which shows the genitalia are normal.
Advice commonsense advice on sexual technique may be helpful.
The importance of foreplay need to be emphasised. Many partners
with busy lives expect to be able to switch on sexual activity for a
brief interlude when it is convenient.

Sex therapy

Some problems are resistant to simple counselling and require specialist
referral. Specialist treatment usually involves an average of about 12
sessions. Vaginismus and premature ejaculation respond particularly well
to this therapy but results for reduced desire are less good. The
components of this therapy are a graduated behavioural programme and
counselling.

Graduated behavioural programme this first involves banning
intercourse or genital contact. Then the partners must make time to touch
each others bodies (I swear this is from a text book), tell each other what
feels enjoyable, and relax without feeling pressure to have sex. The third
stage is to touch the genital area, though the ban on intercourse remains.
After that stage (it gets worse), the couple progress to vaginal
containment which means penetration without movement, and then to
intercourse including movement within the vagina.
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Counselling the graduated behavioural programme usually takes several
months, and while the couple are proceeding through it they attend
regularly for counselling. The counsellor may help couples to reconsider
their attitudes to sexual matters and may discuss the feelings they have
for sex and for each other. Counselling also involves permission giving,
education, reassurance, summing up feelings that the couple may not
recognise and reinforcing positive aspects of the relationship.

Chapter 13 Female genital infections

The world health organisation in 2002 identified unsafe sex as being the
most important cause of ill-health in the world after malnourishment,
causing 17% of all economic loss. It is estimated that there are over 340
million cases of the four most curable STIs (syphilis, gonorrhoea,
chlamydia and trichomoniasis) in adults aged 15-49 throughout the world
each year. Additionally there are thought to be more than 33 million
adults and children living with HIV.

In the UK the number of new HIV cases has doubled between 2000 and
2004 stabilising at around 78000 new cases per year. The number of
chlamydia infections has increased by around 294% and gonorrhoea rates
have been gradually declining since 2002. Syphilis has increased in
prevalence between 2000 and 2006 and is largely attributed to cases in
men, particularly MSM. Rises in STIs in women have been greatest in
those aged 15-19 years. The factors which are linked to these increases
include a change in sexual behaviour, use of non-barrier contraceptives,
emergence of drug resistant strains, symptomless carriage, a highly
mobile population, lack of public education and the reluctance of some
patients to seek treatment factors which are linked to these increases
include a change in sexual behaviour, use of non-barrier contraceptives,
emergence of drug resistant strains, symptomless carriage, a highly
mobile population, lack of public education and the reluctance of some
patients to seek treatment.

STIs including chlamydia, syphilis and genital herpes can cause long-term
morbidity. In women, untreated infections can lead to chronic pain or
infertility and may significantly increase susceptibility to sexual
transmission of HIV. During pregnancy they may cause miscarriage,
premature birth or infections of the new-born. The demographics of
someone at increased risk of an STI are aged under 25, lack of barrier
contraception, being single, separated or divorced, and having an
occupation that involves staying away from home.

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Most STIs are asymptomatic and only a small proportion of women who
present with symptoms such as vaginal discharge have an STI. Many of
the serious infections can cause no symptoms until complications arise.
About 70% of women with chlamydia, 50% with gonorrhoea, 65% with
PID, 30% with genital warts and 50% with genital herpes have no
symptoms. Opt-out testing for HIV and syphilis antenatally is an effective
screening tool.

Partner notification is an essential part of the management of curable
bacterial STIs to prevent reinfection. The three main strategies are
patient referral (patient informs partners), provider referral (healthcare
professional contacts partners, and conditional referral (healthcare
provider will contact partners if the patient hasnt by a set date). In
provider referral the patients identity should be protected.

Sexual history

Questions should be sensitive, inclusive and appropriate, but direct and
avoid euphemisms. As with all history taking, choice of words and
appropriate facial expressions and body language in the questioner are
important. Use open language to appear non-judgemental i.e. partner
instead of boyfriend. After assessing the presenting complaint a full
gynaecological and sexual history should be taken to assess the risk of
STIs. Important questions about a most recent sexual exposure include:
How long ago was it?
Was this with a regular or casual partner?
If a regular partner then how long has the relationship been?
Was it a man or woman?
What kind of contraception or protection was used?
If condoms were used were they used consistently and properly
without accidents?
Has the sexual partner got any genital symptoms?

It is also important to ask about other sexual partners rather than
previous sexual partners as up to 9% of women may have more than one
sexual partner in the same time period. Questions should include:
When did she last have sex with a different partner? If within the
past few months then the same details as above are needed
How many different partners have there been over the past few
months?

HIV risk should also be assessed and questions need to include whether
the woman has even injected drugs and if her partner is bisexual, injects
drugs or is from part of the world where HIV risk is high.

Examination

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Clinical symptoms are not helpful at indicating the site of infection and are
of limited use in determining which infection is likely to be present.
Therefore a genital examination and microbiological testing are useful and
should include:
Inspect the pubic hair and surrounding skin for pubic lice and any
skin rashes
Palpate the inguinal region for lymphadenopathy
Inspect the labia majora and minora, clitoris, introitus, perineum
and perineal area for warts, ulcers, erythema or excoriations
Inspect the urethral meatus and Skenes and Bartholins glands for
any discharge or swelling
Insert a bivalve speculum into the vagina
Inspect the vaginal walls for erythema, discharge, warts and ulcers
Inspect the cervix for discharge, erythema, contact bleeding, ulcers
or raised lesions. Mucopurulent discharge from the cervix is not a
reliable indicator of infection.
Perform a bimanual pelvic examination to assess size and any
tenderness of the uterus, cervical motion tenderness (cervical
excitation) and adnexal tenderness or masses.

Taking swabs

For urethral and endocervical specimens, cellular material needs to be
obtained. To take a urethral specimen, a fine swab should be gently
inserted in to the urethral opening rotated and then placed in the
medium. For an endocervical swab the swab should be inserted about
1cm into the endocervical canal and it should be rotated for several
seconds and placed in the medium. Nucleic acid amplification testing
(NAAT) is increasingly available for chlamydia, gonorrhoea, HSV and less
commonly syphilis and trichomoniasis. Other similar assessments may
include:
A urethral swab for culture for gonorrhoea
A first pass urine sample for chlamydia DNA amplifications testing
Observation of vaginal discharge to see if it is homogeneous
Swab of lateral vaginal walls and the pool of discharge in the
posterior fornix. This should be smeared into a glass slide and dried
before looking for Clue cells, pseudohyphae and spores.
Test the pH of the vaginal discharge either by touching the swab
used to take the vaginal specimen onto narrow-range pH paper, or
the paper can be pressed against the lateral vaginal walls with
sponge holders. It is important to avoid cervical secretions here as
they are pH 7 and can give a falsely high reading
Any vaginal secretions should be wiped from the cervix
An endocervical swab for gonorrhoea is useful
An endocervical swab for chlamydia is useful
A blood sample for syphilis serology
A blood sample for hepatitis B and C
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A blood sample for HIV
If vesicles or fissures are seen then sample for herpes culture
should be taken from the base of the lesion

Symptoms associated with genital infections

None - Many infections are completely asymptomatic so testing should be
considered on the basis of risk factors.

Vaginal discharge an increase in vaginal discharge can be due to a
number of infective and non-infection causes. These include bacterial
vaginal infections (vaginosis (BV), candida, trichomonas), cervical
infections (chlamydia and gonorrhoea), physiological discharge (cervical
ectopy) and other causes (retained tampon and retained products of
conception). Questions that will help differentiate between causes include:
Does the discharge have an offensive odour?
Is there any vulval itching or soreness?
Are there any symptoms such as dysuria, intermenstrual bleeding
or postcoital bleeding or abdominal pain?

Dysuria this is likely to be due to bacterial cystitis, urethritis (chlamydia
and gonorrhoea) or vulvitis (HSV, candida, trichomonas and
dermatological conditions). External dysuria, particularly absence of
frequency or abdominal pain, indicates irritation at the urethral meatus.
Questions to help distinguish causes include:
Is the dysuria external i.e. is the pain when the urine comes into
contact with the vaginal mucosa?
Is there any urinary frequency, nocturia or haematuria?
Is there any vaginal discharge, postcoital or intermenstrual
bleeding?
Are there any vulva sores or itching?

Vulval lumps raised lesions on the vulva can be due to infections, or
anatomical variants. Genital warts are by far the most common cause.
Other causes include viral (warts, molluscum contagiosum, cancers),
bacterial (Skenes or Bartholins bland abscesses due to chlamydia or
gonorrhoea) and anatomical variants. Key questions to ask are:
Are the lumps painful?
How many are there?
How long have they been present?
Are there any other symptoms such as dysuria, intermenstrual or
postcoital bleeding or abdominal pain?

Vulval ulcers Infective lesions are the most common of the vulval ulcers
with genital herpes being the main infection in the UK. Other causes
include syphilis or ulcers. Key questions to ask are the same as above.

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Lower abdominal pain this can be caused by a number of different
conditions which include uterine (endometritis due to chlamydia,
gonorrhoea or BV, and endometriosis), fallopian tubes (salpingitis due to
trachomatis or gonorrhoea, and ectopic pregnancy), ovary (torsion, cyst
or haemorrhage), urinary tract (cystitis) and bowels (acute appendicitis or
IBS). Infective causes are particularly common in young (under 25 years)
sexually active women. Important questions are:
Is there any vaginal discharge, postcoital or intermenstrual bleeding
or deep dyspareunia (pain during sex)?
When was her last menstrual period (LMP), what contraception has
she been using and is there a possibility of pregnancy?
Has she any dysuria, urinary frequency, nocturia or haematuria?
Has she any nausea, vomiting, diarrhoea or constipation?

Specific infections

Bacterial vaginosis (BV)

BV is the most common cause of vaginal discharge in women of
reproductive age, found in around 9% of women in general practice, 12%
of pregnant women and 30% of women undergoing termination. BV is
due to an overgrowth of anaerobic bacteria, genital mycoplasmas and
Gardnerella vaginalis (all of which can be present in small numbers in a
normal healthy vagina). It is not sexually acquired so sexual partners do
not need to be treated.

Symptoms and signs about 50% of women with BV are asymptomatic
and if symptoms are present then they are mainly of increased vaginal
discharge and a fishy odour, often without any itch or irritation. The odour
is often worse after sexual intercourse and during menstruation. On
examination the discharge is milky white and adherent to the vaginal
walls and may be frothy. There is no inflammation of the vulva or vagina.

Diagnosis a gram stained vaginal smear showing depletion of normal
lactobacilli and the presence of mixed organisms is the preferred method
of diagnosis.BV can also be diagnosed clinically if there is typical thin
homogenous discharge, a vaginal pH of greater than 4.5 and an amine
odour after adding 10% potassium hydroxide to the vaginal fluid, clue
cells on microscopy. Menses, semen and infection with T.vaginalis can
also give a raised pH and positive amine test. Culture of vaginal
secretions has no place in diagnosis

Treatment and management recommended for all women with
symptoms and those undergoing gynaecological surgery. The main
treatment is:
Metronidazole 400mg PO bd for 1/52

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Complications BV increases vaginal vault infection following
hysterectomy, postpartum endometritis following c-section and post-
abortal PID after surgical abortion. In pregnancy it may increase the risk
of late miscarriage and early labour. It increases a womans risk of
acquiring HIV infection by two-three fold.

Candida infections

75% of all women experience at least one episode of symptomatic
candida in their lifetime. About 20% of asymptomatic women have
vaginal colonization with candida. Increased rates (30-40%) of
colonization are found in pregnancy and uncontrolled diabetes.
Recognised predisposing factors are pregnancy, diabetes,
immunosuppression, antimicrobial therapy and vulval irritation/trauma. It
is not sexually acquired so partners do not need treatment.

Symptoms and signs vulval itching is present in nearly all symptomatic
women. Thick, white vaginal discharge, vulva burning, external dysuria
and superficial dyspareunia may also be present. On examination there
may be vulval erythema, sometimes with satellite lesions, fissuring,
oedema and excoriations may be present. There may be typical white
plaque on the vaginal walls but the discharge can be minimal.

Diagnosis Microscopy and culture are the most sensitive methods of
diagnosis. Up to half of women who self-diagnose a candida infection
have another problem.

Treatment and management there are a number of effective
intravaginal and oral antifungal agents available:
Topical clotrimazole pessaries for 1, 3 or 6 nights
Oral treatment fluconazole 150mg single dose

Chlamydia trachomatis

This is the most frequently seen STI in the UK and affects at least 3-5%
of sexually active women and as many as 14% of those aged under 20
years. The natural history of infection is not understood and in around
50% of cases the infections resolves spontaneously without
complications. However it can cause PID, chronic pain and infertility so is
considered to be a serious public health issue. Screening for, and treating
asymptomatic chlamydia reduces the rate of PID and some countries have
instituted population screening programmes.

Symptoms and signs the cervix is the primary site of infection bit the
urethra is affected in about 50%. Approximately 70% of women with
chlamydia are asymptomatic. If symptoms are present, they are usually
non-specific, such as increased vaginal discharge and dysuria. Lower
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abdominal pain and intermenstrual bleeding may be present if the
infection has spread beyond the cervix. On examination there may be
mucopurulent cervicitis and/or contact bleeding but the cervix can look
normal.

Diagnosis The widely used method of choice is NAAT such as PCR with a
sensitivity of over 90%. Cervical or vulvovaginal swab samples are
suitable and first voided urine samples are also adequate. Self-taken
vulva swabs are as good, if not better, than physician taken swabs.
Enzyme immunoassay (EIA) tests have a sensitivity of only 60-70% and
are outdated.

Treatment uncomplicated infection can be treated with:
Azithromycin 1g single dose
Doxycycline 100mg bd for 1/52

If pregnant then erythromycin 500mg bd for 2/52 is used. A test to prove
clearance is not needed but the patient should abstain from sex until the
end of treatment. However reinfection rates are high 10-30% so retesting
is indicated at 6-12 months.

Complications chlamydia can spread beyond the lower genital tract and
cause Skenes and Bartholins gland abscesses, endometritis, salpingitis
and perihepatitis. Around 3-10% develop symptomatic ascending
infections (PID) which may lead to tubal damage predisposing to chronic
pain, ectopic pregnancy and infertility. Infection during pregnancy can
cause miscarriage, preterm birth, postpartum infection and neonatal
infection. Infection increases the risk of contracting HIV by three-to-four
fold.

Neisseria Gonorrhoea

Gonorrhoea rates are around 10-fold lower than chlamydia in the UK.
There has been a steady fall in rates since 2002 but these are highest in
women aged 15-19 in urban areas and particularly in black minorities.
This organism can have extensive antibiotic resistance.

Symptoms and signs the cervix is the primary site of infection but the
urethra is affected in 70-90%. Around 50% of women have no symptoms.
The most common symptoms are increased vaginal discharge, dysuria
and postcoital bleeding. Lower abdominal pain and intermenstrual
bleeding may also be present if the infection has spread beyond the
cervix. On examination there may be a purulent or mucopurulent
cervicitis and/or contact bleeding but again the cervix may look normal.

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Diagnosis NAAT offers greater sensitivity but lower specificity than
cultures. Confirmation of an NAAT result by culture is recommended and
allows testing for antibiotic sensitivity.

Treatment and management
Cefixime 400mg po stat
Ceftriaxone 250mg i.m. stat
About 40% of females with gonorrhoea also have chlamydia so need
testing and treating.

Complications can spread to cause Skenes and Bartholins gland
abscesses, endometritis, salpingitis and perihepatitis. About 10-20% of
women will develop salpingitis resulting with damage predisposing to
tubal pregnancies and tubal infertility. Infection in pregnancy can cause
miscarriage, preterm birth, postpartum infection and neonatal infection.
Rarely a septicaemia can occur. Gonorrhoea increases the risk of HIV by
four-to-five fold.

Pelvic inflammatory disease (PID)

Results when infections ascend from the cervix or vagina into the upper
genital tract. It includes endometritis, salpingitis, tubo-ovarian abscess
and pelvic peritonitis. The main causes are trachomatis and gonorrhoea.
The true incidence is not known but it is thought that two thirds of women
are asymptomatic.

Symptoms and signs these vary from none to very severe. The onset of
symptoms often occurs in the first part of the menstrual cycle. Women
with chlamydial PID usually have clinically milder disease than women
with gonococcal PID. Lower abdominal pain is the most common
symptoms, with increased vaginal discharge, irregular bleeding, postcoital
bleeding and deep dyspareunia also present in some women. The cervix
may have a mucopurulent discharge with contact bleeding, indicative of
cervicitis. Adnexal and cervical motion tenderness on bimanual
examination is the most common sign, but pyrexia and a palpable
adnexal mass may also be present.

Diagnosis - No specific symptoms, signs or laboratory tests are diagnostic
of PID and the diagnosis is often made on clinical findings. Non-specific
tests for inflammation such as ESR, WBC and CRP may be raised and
swabs taken only from the lower genital tract showing sexually
transmitted pathogens are supportive evidence, however negative results
do not exclude the diagnosis. The absence of pus cells on a cervical
sample is a sensitive marker of the absence of PID. Differentials include
appendicitis and ectopic pregnancy. Laparoscopy is considered gold
standard.

Page | 557

Treatment and management this should not be delayed while waiting
for bacteriological test results, as early antibiotic therapy improves
outcomes. Outpatient therapy with oral antibiotics is appropriate for
clinically mild to moderate disease but hospitalisation with IV antibiotics
may be needed for the first few days in severe disease. Recommended
regimens include:
Cefoxitin 2g IV tds plus doxycycline 100mg bd plus metronidazole
400mg bd for 14 days

Appropriate analgesia should be given and patients should abstain from
sex until they and their partner have completed treatment.

Complications the main one is tubular damage with the risk of all
complications increasing with the severity of infection. Tubal infertility
occurs in 10-12% of women after one episode of symptomatic PID, 20-
30% after two and 50-60% after three plus. The risk of an ectopic
pregnancy is increased 6-10 fold. Abdominal or pelvic pain lasting longer
than 6 months occurs in 18% of women. Women with a past history of
PID are 5-10 times more likely to need hospitalisation and hysterectomy.
About 1/3 women have repeat infections either due to relapse or
reinfection.

Trichomonas vaginalis (TV)

TV is uncommon in the UK with less than 6000 cases per year, but in
other parts of the world (Africa and Asia) it remains a major cause of
vaginal discharge. It is sexually transmitted and only infects the
urogenital tract. Unlike BV, TV causes significant inflammation.

Symptoms and signs it may be asymptomatic in 10-50% of women but
the most common symptom is vaginal discharge with a malodour. There
may also be vulval pruritus, external dysuria and dyspareunia. On
examination there may be vulval erythema and excoriation, and the
purulent discharge may be visible on the vulva. The vaginal mucosa is
often inflamed with a yellow or grey discharge.

Diagnosis culture is the most sensitive method of diagnosis. Microscopy
of a wet-mount preparation, in which the motile trachomonads can be
seen, is about 70% sensitive compared to culture.

Treatment and management the recommended treatment is:
Metronidazole 2g PO stat or
Metrionidazole 400mg PO bd 5-7 days
30% of women with TV have gonorrhoea and/or chlamydia so they need
testing for other STIs. Patients should abstain from sex until their partner
is also clear.

Page | 558

Complications increases the risk of acquiring HIV infection and in
pregnancy it is associated with a low birth weight and preterm delivery.

Genital warts

Genital warts are the most common viral STI in the UK. The prevalence of
infection with HPV types 6 and 11 in women aged 19-23 years in one
study was 23% and the incidence of genital warts is around 0.8% per
annum. HPV is highly infectious and two-thirds of sexual partners will
develop warts, and HPV infection is also seen in adolescents who have
had only non-penetrative sexual contact. Infection causes painless benign
epithelial tumours caused by HPV types 6 and 11. The incubation period
of months to years means that warts may appear some time into an
exclusively monogamous relationship. The Immunosuppression of
pregnancy may cause warts to appear or recur. Vaccines against
oncogenic HPV types 16 and 18 are available and some of these also
protect against types 6 and 11.

Symptoms and signs genital warts are painless so in women they may
be asymptomatic. If symptomatic it is usually that the woman has felt
vulval lumps. On examination the flesh-coloured papules can be seen
around the introital opening. They can spread on to the labia, perineum
and perianal area. They may be single but are usually multiple. On the
mucous membranes they are usually soft and cauliflower like
(condylomata acuminata) and on dryer surfaces they are harder and
keratinised.

Diagnosis they are diagnosed by their clinical appearance. Atypical
lesions should be biopsied, particularly in older women as premalignant
and malignant lesions can look similar.

Treatment and management warts usually resolve spontaneously and
no one treatment modality has been shown to be effective in all cases. A
small number (<5) or keratinised warts can be treated with ablative
therapy such as cryotherapy, trichloroacetic acid, curettage or
electrocautery. All of these can be used in pregnancy and a single
treatment may be effective. Multiple, soft warts can be treated with
podophyllotoxin solution or cream. It is a cytotoxic agent so is
contraindicated in pregnancy. Imiquimod cream works my stimulating
local cell-mediated immunity, resulting in clearance of the warts. It can be
used on both soft and keratinised warts but should also not be used in
pregnancy. All treatments can have recurrence rates of up to 25%,
because of residual subclinical viral infection. Treatment failure should be
followed by change of treatment and management algorithms improve
outcomes. Women with genital warts should be tested for chlamydia and,
depending on risk assessment, may require testing for other STIs. There
Page | 559

is evidence that condoms reduce the spread of HPV so patients should be
advised to use condoms with new partners.

Complications genital warts are mainly a cosmetic problem.
Psychological morbidity may arise because of their appearance, fears
about cervical cancer or concerns about fidelity if they appear in a regular
relationship. Physical complications are rare: HPV 6 and 11 are not
associated with cervical cancer and vertical transmission is rare.

Genital herpes

Genital herpes can be caused by HSV type 1 (mouth) or type 2 (genitals).
Over 50% of first episode genital herpes in the UK is due to type 1. It is
initially an acute vesicular/ulcerating eruption, frequently followed by
recurring lesions. HSV ascends the peripheral sensory nerves into the
dorsal root ganglion where latent infection develops. This can reactivate
giving recurrent lesions. These are no always noticeable; asymptomatic,
subclinical, viral shedding occurs up to 20% of the time in HSV-2
infection. All of these reactivated episodes are potentially infectious and
around 75% of first-episode infections are acquired from an
asymptomatic partner.

Symptoms and signs these range from mild irritation and soreness to
severe systemic illness and extensive, confluent anogenital ulceration.
Genital lesions classically pass through erythematous, vesicular and
ulcerative stages before resolution. The primary infection causes vulval
soreness and external dysuria, but it can also be asymptomatic. As the
symptoms are non-specific it may be misdiagnosed as either a UTI or
candida. On examination there are multiple painful superficial ulcers.
Tender inguinal lymphadenopathy is also usually present.

Non-primary first episode genital herpes occurs with previous orolabial
HSV1 who then acquire HSV2 infection. There is some cross protection
from this prior infection resulting in a milder illness than an primary
infection. These are more likely to be asymptomatic.

Recurrent herpes may be asymptomatic and if symptoms are present
then they are usually milder than the first infection. They may be
proceded by a prodrome of tingling, itching or pain in the area. On
examination there are usually just a few ulcers confined to a small area.
90% of people with HSV2 infection and 60% with HSV1 will develop
recurrences within the first year. The median number of recurrences in 1
year is one with HSV1 and 5 with HSV2. Long term studies show
symptomatic recurrences decrease with time.

Diagnosis NAAT of swabs from the lesions for HSV1 and HSV2 DNA is
the most sensitive method of diagnosis. Viral culture for HSV may be
Page | 560

used. Type-specific testing can be useful in certain circumstances to
assess a partners susceptibility.

Treatment and management primary and first episode genital herpes
can be treated with anti-retroviral drugs to reduce the severity and
duration of the symptoms. They do not prevent latency and have no
effect on future recurrences. Recommended regimens are aciclovir 200mg
five times daily for 5 days. Aciclovir and can be used in pregnancy and
breast feeding. Analgesia and saline baths are recommended. Patients
can be advised to pass urine in a bath or under a shower spray of warm
water to ease external dysuria. Testing for other STIs should also be done
at some point.

If recurrent then supportive therapy is offered with severe recurrences
being treated with episodic antiviral therapy. If started early these will
reduce the severity and duration of an attack but not the number of
recurrences. The treatment should be taken at home and is as above. For
frequent recurrences (>6 per year) suppressive therapy may be
considered. In about 80% of cases recurrences are stopped altogether.
Therapy does not modify the natural history of the disease but after 12
months about 20% will have fewer recurrences due to natural decay in
episode frequency. A standard regimen is aciclovir 400mg bd. Patients
should be advised to avoid sexual contact during prodrome and
recurrence and that condoms help reduce risk.

Complications women who acquire HSV during pregnancy, particularly
in the third trimester, may transmit the infection to the baby at the time
of delivery. The risk of transmission with recurrent HSV is low. Genital
herpes increases the acquisition of HIV two-three fold. Many people with
HSV develop psychological problems and fear rejection by future sexual
partners.

Syphilis

This has made a comeback since the year 2000 and is screening for
antenatally.

Symptoms and signs this can be asymptomatic. There are several
stages to symptomatic syphilis:
Primary about 3 weeks after exposure a chancre appears which is
usually a single, painless ulcer with rolled indurated edges, which
usually goes unnoticed in women. Even without treatment it heals
spontaneously. Syphilis serology may be negative at this point.
Second after several weeks a generalised illness develops with
fever, malaise and skin and mucosal rashes. The rash is present on
the trunk, limbs and palms and soles. Wart-like moist papules occur
Page | 561

on the vulva. Even if untreated these symptoms and signs will
resolve after 3-12 weeks. Syphilis serology is strongly positive here
Late up to 40% of untreated patients will develop symptomatic
late syphilis with neurosyphilis, cardiovascular syphilis or gummata.

Diagnosis serological testing is done, usually with EIA being used first.
If positive then the venereal disease research laboratory test or rapid
plasma regain test are used.

Treatment and management the treatment at all stages requires long
courses of antibiotics and long-term follow up. Penicillins remain the
treatment of choice. Management should be undertaken by the
department of GU medicine.

Complications late syphilis can cause serious problems. In pregnancy
syphilis can cause miscarriage and stillbirth and can be transmitted to the
infant.

HIV infection

Covered in great detail many times before but there are few symptoms
initially except a mild systemic illness with fever, malaise and rash at the
time of seroconversion 6-12 weeks after infection. This is rarely
recognised as HIV infection. As immune function falls there may be oral
candida and HZV occurring.

Diagnosis serological testing and routinely at antenatal screening

Treatment and management patients should have their CD4 count and
HIV viral load performed about every 3 months. AVT with 3+ drugs
should be started when the CD4 count drops to 350-400 x 10
9
/l.

Complications opportunistic infections, transmission to fetus at birth and
death.

Chapter 14 Heavy menstrual bleeding and dysmenorrhoea

Heavy menstrual bleeding is defined, for clinical purposes, as bleeding
that has an adverse impact on the quality of life of a woman and is often
called menorrhagia. This is the commonest cause of iron deficiency
anaemia in the developed world. Only 50% of those who complain of
heavy loss actually fall outside of the normal limits (>80ml per month).
This is a common cause for hysterectomy which can have its problems.
However satisfaction rates are generally very high.
Page | 562

The main causes or menorrhagia are uterine pathology (common),
dysfunctional uterine bleeding (very common) and medical disorders
including clotting defects (very rare).

Uterine pathology

HMB is associated with benign pathology (e.g. fibroids) and extremely
rare malignant pathology (e.g. endometrial cancer). Over half of those
women with excessively heavy loss of >200ml per month will have
fibroids. Endometrial polyps are common benign localised overgrowths of
the endometrium that consist of fibrous tissue and are believed to be
caused by disordered cycles of apoptosis. It is likely that intrauterine
endometrial polyps do increase the likelihood of irregular bleeding but it is
unlikely, however, that small endocervical polyps detected at routine
screening can cause the same effect. Malignant changes are rare.

Uterine fibroids (leiomyomas) are benign tumours of the myometrium
which are present in approximately 20% of women of reproductive age.
They are well-circumcised areas of smooth muscle cells with collagen and
can be both singular and multiple. Size varies and these are more
common in Afro-Caribbean ladies. Submucous fibroids project into the
uterine cavity, intramural fibroids are contained within the wall of the
uterus, and subserosal fibroids project from the surface of the uterus;
cervical fibroids arise from the cervix. Many fibroids are asymptomatic but
when they do occur they are often related to the site and size of the
fibroid. Presenting symptoms include menstrual dysfunction, infertility,
miscarriage, dyspareunia and pelvic discomfort. The mechanism for
infertility is unclear but fibroids may affect implantation or uterine blood
flow. Fibroids can also exert pressure affects on surrounding organs such
as frequency of micturation with the bladder or even hydronephrosis due
to ureteric compression. Fibroid growth is mostly due to oestrogen so
they grow in pregnancy and shrink after the menopause.

Dysfunction uterine bleeding (DUB)

This is said to be the cause of HMB in the absence of recognisable pelvic
pathology or systemic disease. It is hence a diagnosis of exclusion and is
the commonest diagnosis reached after investigating a woman for HMB.
Some clinicians further divide DUB into anovulatory and ovulatory DUB
although this has no affect on treatment. The underlying cause is likely to
lie in the endometrium although the precise nature is unknown.

Medical disorders and clotting defects

Very rarely HMB is associated with a medical disorder such as
hypo/hyperthyroidism, hepatic disease and renal disease although HMB is
Page | 563

rarely the only symptom. Certain coagulation abnormalities and platelet
defects are associated with a higher incidence of HMB.

Assessment of HMB

History the number of sanitary towels used, duration of bleeding and
passage of clots seem to have little correlation with the actual loss of
blood volume. Complaints of flooding (leaking of blood onto clothing) and
having to use double sanitary protection (pad and tampon) are indicators
of HMB and are likely to have an impact on quality of life. It is important
to ask about the degree of inconvenience experienced. A history of
irregular bleeding, dyspareunia, pelvic pain or intermenstrual or postcoital
bleeding may raise the suspicion of underlying pelvic pathology and often
require additional investigations.

The woman should be questioned about symptoms of anaemia. A history
suggestive of a systemic disorder should prompt further investigation. The
woman should also be questioned about risk factors for endometrial
cancer such as unopposed oestrogen use, tamoxifen use, PCOS and
family history of this or colon cancer. It is important to assess the risk of
DVT as many treatments are hormonal and hence may be
contraindicated.

Examination firstly examine for signs of anaemia. Then perform an
abdominal, bimanual and speculum examination. An enlarged bulky
uterus suggests fibroids and tenderness suggests endometriosis, PID or
adenomyosis.

Investigations
Laboratory tests:
FBC to exclude anaemia
TFTs systemic problem
Coagulation
Ultrasound: if history or examination suggests a structural problem or if it
is not possible to assess the uterus clinically because of obesity. This can
help show the site and size of fibroids together with assessment of the
ovaries.
Endometrial assessment: performed in all women over 45 and in younger
women with HMB despite treatment, in those with red flag signs and
those who are at high risk of endometrial cancer. This takes the form of
either an endometrial biopsy or hysteroscopy.
Cervical cytology: performed if it is due or if the cervix looks suspicious

Treatment of causes of HMB

Focal uterine pathology

Page | 564

Benign intrauterine polyps will usually be removed by polypectomy using
hysteroscopic techniques. Fibroids may be treated medically or surgically:

Medical the symptoms caused by fibroids respond poorly to treatments
such as those used for DUB. Since the growth of fibroids is hormone
dependent, gonadotrophin releasing hormone (GnRH) analogues (which
result in hypo-oestrogenism) may be used to cause fibroid shrinkage. The
fibroids can shrink by 50% over 3 months of treatment but regrowth
occurs on cessation. During treatment hypo-oestrogenism can result in
symptoms such as hot flushes and also bone loss. In view of the concern
of osteoporosis GnRH analogues are used for <6 months. Add-back HRT
is required to minimise the risk of osteoporosis and side-effects.

Surgical resection by hysteroscope is often possible which can lead to
improve fertility and relief of menstrual problems. Ablation of small
submucous fibroids can be achieved by microwave endometrial ablation.
If a woman wants to preserve her fertility then myomectomy is an option
and involves an incision of the pseudocapsule of the fibroid followed by
enucleation of the bulk of the tumour and closure of the resulting defect.
This is usually an open abdominal procedure and is associated with a
similar morbidity to that of hysterectomy. There is a risk of bleeding and
the need for an emergency hysterectomy. There is the possibility of
adhesion formation affecting fertility and also fibroid regrowth. GnRh
analogues are often used preoperatively to shrink the fibroids and this
decreases intraoperative blood loss. Pregnancies are often delivered by
planned caesarean section due to concerns of uterine rupture.

Uterine artery embolisation (UAE) is an effective and safe technique that
involves interrupting the blood supply to the fibroid by blocking the
uterine arteries with coils or foam delivered through a catheter placed in
the femoral artery. The healthy myometrium will regenerate from the
formation of collaterals whilst fibroids will not and can shrink 50%. Pain
following this is usually severe and requires opiates. Complications include
infection, fibroid expulsion and the effect of radiation on the ovaries. The
incidence is low and morbidity is lower than hysterectomy. If childbearing
is complete then a hysterectomy may be considered.

Dysfunctional uterine bleeding (DUB)

Medical treatment

Intrauterine progestogens the levonorgestrel intrauterine system
delivers progesterone directly to the uterus and is first line treatment for
HMB, being particularly suitable for women requiring contraception. After
12 months menstrual blood loss is reduced by around 95% and many
women are amenorrhoeic. The main problems with the IUS are the high
Page | 565

incidence of irregular bleeding, particularly in the first 3-6months after
insertion, and an expulsion rate of 5%.

Prostaglandin synthesis inhibitors NSAIDs taken during menstruation
reduce menstrual blood loss by around 25%, by reducing endometrial
prostaglandin concentrations. The NSAID most commonly used for
treatment of HMB is mefenamic acid, although other NSAIDs have similar
efficacies. Side effects include GI complaints, dizziness and headache.
These drugs are also of benefit for treating dysmenorrhoea.

Antifibrinolytics these include tranexamic acid and work by inhibiting
plasminogen activator, thereby reducing the fibrinolytic activity in the
endometrium. This increases clot formation in the spiral arterioles and
reduces menstrual loss. Tranexamic acid taken during menstruation
reduces blood loss by around 50%. GI side effects, nausea and tinnitus
can occur. The drug should not be taken by those who are at risk of DVT.

NSAIDs and Antifibrinolytics are the best options for women wishing to
conceive since they are only taken during menstruation and do not
suppress ovulation.

COCP this reduces blood loss by 50%, possibly due to its suppressant
effects on the endometrium.

Systemic progestogens oral progestogens are widely prescribed for HMB
but have not been shown to give a meaningful reduction in loss. Taken in
a cyclical fashion they are useful in regulating otherwise irregular cycles.
If given by depot injection then eventually amenorrhoea may occur, but
during initial months bleeding can be heavy and unpredictable. Side
effects include nausea, bloating, headache, breast tenderness, weight
gain and acne.

GnRH analogues amenorrhoea occurs as a result of pituitary down
regulation and this inhibition of ovarian activity. Women may experience
problems, however, associated with the resultant hypo-oestrogenism,
particularly hot flushes and vaginal dryness. They are usually reserved for
use for up to 6 months.

Danazol this is a synthetic androgen with anti-oestrogenic and anti-
progestogenic activity which reduces menstrual blood loss but is no longer
recommended because of its poor side-effect profile which includes
irreversible virilisation.

Surgical treatment

Endometrial ablation this lessens or stops menstrual loss altogether.
Since the endometrium regenerates it is necessary to ablate to the endo-
Page | 566

myometrial border. This offers a safer method of control and shorter
hospital stay with shorter recovery than hysterectomy. This can be done
under GA and direct vision using either a heated balloon or diathermy.
Success rates are broadly similar for each technique and give a 70-80%
satisfaction rate. Balloon treatment causes amenorrhoea in 20% and 50%
for diathermy. Complications include uterine perforation, hyponatraemia
and infection. Pregnancy is contraindicated after ablation.

Hysterectomy this guarantees amenorrhoea and has a high level of
satisfaction. It is performed by an abdominal or occasionally vaginal
route. A transverse abdominal incision will be made and complications of
this procedure include haemorrhage, bowel trauma, damage to the
urinary tract, infection, postoperative thromboembolism and risk of
vaginal prolapse in later years. Complications are significantly greater in
those with uterine fibroids. Women undergoing the vaginal procedure
generally recover quicker but the incidence of complications is higher. For
women with DUB who are having an abdominal hysterectomy of normal
cervical cytology, there is a choice of having a subtotal hysterectomy.
This removes the uterus whilst preserving the cervix meaning the
operation is quicker with less risk of damaging surrounding structures.
The disadvantage is that these women still need to enter the cervical
screening programme.

Removing the ovaries at the time of hysterectomy depends on factors
such as the womans age, preferences, family history of breast or ovarian
carcinoma and her attitudes to HRT. If over 50 then these should ideally
be removed as a bilateral salpingo-oophorectomy will significantly reduce
the incidence of later ovarian carcinoma and surgery for benign ovarian
tumours.

Medical disorders and clotting defects

Referral should be made to the appropriate physician/haematologist to
institute further investigation and treatment of the underlying condition.

Dysmenorrhoea

Excessive menstrual pain is a significant clinical problem. It is
characterised by cramping lower abdominal pain, which may radiate to
the lower back and legs and may be associated with GI symptoms or
malaise. It has been estimated that this affects 33-50% of menstruating
women and is one of the commonest causes for women being absent
from school or work. This can be idiopathic (primary) or due to pelvic
pathology (secondary).

Primary dysmenorrhoea

Page | 567

This generally begins with the onset of ovulatory cycles, typically within
the first 2 years of the menarche. Pain is usually most severe on the day
of menstruation or the day preceding this. There is good evidence that
prostaglandins are involved in the aetiology, with higher concentrations of
PGE
2
and PGF
2alpha
in the menstrual fluid of women who suffer from
dysmenorrhoea. PGF
2alpha
increases the contractility of the myometrium
and can lead to the dysmenorrhoea pain.

Management a pelvic examination may not be helpful here and is not
appropriate when dealing with adolescents. A transabdominal ultrasound
scan will reveal normal pelvic organs and provide reassurance. Discussion
and reassurance are essential parts of the management. If
dysmenorrhoea is unresponsive to standard medical therapy then
consideration should be given to the possibility of underlying pathology
and appropriate investigation instituted.

Treatment
Prostaglandin synthesis inhibitors NSAIDs reduce the uterine
production of PGF2
alpha
and this dysmenorrhoea. Most NSAIs have
been shown to be effective but mefenamic acid and ibuprofen are
preferred in view of their favourable efficacy and safety profiles.
COCP suppression of ovulation reduces the severity of pain
Depot progestogens suppresses ovulation
Levonorgestrel intrauterine system in addition to reducing
menstrual blood loss these are effective at reducing
dysmenorrhoea.

Secondary dysmenorrhoea

This usually has its onset many years after menarche and common
associated pathologies include endometriosis, adenomyosis, pelvic
infection and fibroids. It may also be associated with the presence of an
IUS device yet an IUS is generally associated with reduced
dysmenorrhoea.

Management women who have no other complaints and no
abnormalities on abdominal, pelvic or speculum examination may be
treated safely without further investigation. Swabs from the genital tract,
however, are helpful to exclude active pelvic infection, particularly
chlamydia. If pelvic masses such as fibroids are suspected then a pelvic
US may be helpful. A laparoscopy is indicated if endometriosis or pelvic
inflammatory disease is suspected, or for those women in whom standard
medical therapy has been ineffective.

Treatment depends on the underlying pathology

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Chapter 15 Pelvic pain and ectopic pregnancy

Pain this is a subjective phenomenon with many factors affecting this
being centrally mediated such as psychiatric, psychological or social
distress. The peritoneal cavity and organs within are sensitive to
inflammation, chemicals and by stretching or distortion caused by specific
stimuli such as gas or adhesions. The sensitivity of different organs to
different stimuli is also important. The cervix and uterus are relatively
insensitive, for example, whilst the fallopian tubes are exquisitely
sensitive. Crushing of the bowel is associated with minimal discomfort,
whereas stretching and distension cause severe pain. Localisation of these
visceral pains is often difficult.

History particular attention must be paid to the time of onset of pain,
the characteristics, the radiation, duration, severity,
exacerbating/relieving factors, cyclicity and analgesic requirements.
Associated symptoms of a GI, urological or MSK origin should be sought.
It is also important to take a menstrual history, in particular the
frequency and characteristic of vaginal bleeding, any intermenstrual
bleeding or vaginal discharge and their relationship to the pain. Ectopic
pregnancies can occur without recognisable amenorrhoea. A sexual
history is useful and should include details of superficial or deep
dyspareunia, contraception and STIs. There may be a family history of
gynaecological disorders (e.g. endometriosis) and cervical cytology
history needs to be recorded.

With chronic pain it can be useful to record a family and social history
including marital or relationship problems, pressure at work, financial
worries and childhood or adolescent problems such as sexual abuse.
Listening is very useful in helping patients and it can be useful to ask the
patient what they think is wrong. If the history is suggestive of a non-
gynaecological problem then referral to the appropriate specialty is
needed.

Examination Firstly the general demeanour should be observed to
assess the severity of pain. The pulse and temperature should be
recorded and eye-witnessed accounts of the pain from other people can
help. Abdominal examination should include inspection for distension or
masses, palpation for tenderness, rebound and guarding, and abdominal
auscultation if GI obstruction or ileus is suspected. Inspection of the vulva
and vagina at speculum examination may show abnormal discharge or
bleeding. A vaginal exam and rectal exam should also be need if
permission is given. A bimanual examination may reveal uterine or
adnexal enlargement suggestive of a pelvic mass, fibroids or an ovarian
cyst. Cervical excitation (pain associated with digital displacement of the
Page | 569

cervix) is associated with ectopic pregnancy and pelvic infection.
Tenderness or pain elicited by bimanual palpation of the pelvic organs
themselves is suggestive of an ongoing inflammatory process which may
be infection (i.e. chlamydia) or non-infective (e.g. endometriosis). A fixed
immobile uterus suggests multiple adhesions from whatever cause and
nodularity within the uterosacral ligaments can be a feature of
endometriosis.

Acute pelvic pain There are many causes of this but the most important
are ectopic pregnancy, miscarriage, PID and torsion/rupture of an ovarian
cyst. Other causes include appendicitis, constipation, diverticular disease,
IBS, UTI, calculus and MSK problems. If the urinary pregnancy test is
negative (UPT) a high vaginal swab, endocervical swab and FBC should be
performed for evidence of infection. All sexually active women below the
age of 25 should be offered opportunistic chlamydia screening. An US
scan is useful for identifying ovarian cysts. Whilst the results of
investigations are awaited it is important to monitor vital signs and to
provide analgesia. A diagnostic laparoscopy may even be warranted. The
management of miscarriage, PID and ovarian cysts is discussed in
separated chapters. An innocent pain experienced with ovulation in the
mid-cycle is termed mittelschmerz. This pain is usually sudden onset,
can be quite severe and, if persistent each cycle, will respond to ovulation
suppression with COCP.

Ectopic pregnancy Although non-intrauterine pregnancies can be
ovarian, cervical or intra-abdominal, the vast majority are tubal. The
incidence is 1 in 200 and it remains one of the biggest causes of maternal
mortality. The history and examination should particularly include the
date of the last menstrual period (LMP), the date of any pregnancy tests
and symptoms suggestive of PID. Pelvic examination should be gentle to
avoid tubal rupture. If the UPT is positive and the woman is not shocked
then a transvaginal ultrasound will be helpful to distinguish between an
ectopic, intrauterine or miscarried pregnancy. A serum hCG level which
does not increase by over 66% in 48 hours increases the likelihood of an
ectopic. Management depends on the overall clinical picture, the scan
result and the level of hCG. Tubal pregnancy can be managed by
laparotomy, operative laparoscopy, medically or occasionally by
observation alone. Management must be tailored to the clinical conditions
and future fertility preferences of the woman.

If a woman is shocked on admission then an immediate UPT is
needed along with resuscitation and blood transfusion as required.
If the UPT is positive with clinical signs of an ectopic pregnancy
(pelvic tenderness and/or cervical excitation and/or shoulder tip
pain due to diaphragmatic irritation from haemoperitoneum) and an
empty uterus on ultrasound, a diagnostic laparoscopy should be
carried out. In the presence of an ectopic pregnancy a laparoscopic
Page | 570

salpingectomy or salpingotomy is appropriate. In a
haemodynamically stable woman a laparoscopic approach is
preferred to an open approach. In the presence of a health
contralateral tube there is no evidence that salpingotomy should be
preferred to salpingectomy. Postoperative tracking of hCG is
necessary following salpingotomy to identify the small number of
cases complicated by a persistent trophoblast.
In a well woman with a positive UPT and an empty uterus a serum
hCG level is needed. If the level is >1500IU/L then a laparoscopy
should be considered as an intrauterine sac is usually seen above
this level. Otherwise hCG should be rechecked at 48 hours. If levels
are not doubled, steady or only slightly reduced then laparoscopy
should be considered.
Medical therapy with methotrexate is an option for women with
ectopic pregnancies who have minimal symptoms, are clinically
stable and have a serum hCG of less than 3000IU/L.
Expectant management is an option for clinically stable
asymptomatic women with an US diagnosis of ectopic pregnancy
and decreasing hCG, initially less than 1000IU/L.

When a serum hCG level is <1000IU/L and there is no evidence of
pregnancy intra or extra uterine visible on transvaginal ultrasound then
the pregnancy is described as being of unknown location (PUL). Women
with no or minimal symptoms but who are at risk of an ectopic should be
managed expectantly for 48 hours with active intervention if symptoms
occur or is hCG is greater than 1500IU/L when rechecked. When managed
expectantly it is important to check hCG levels until <15IU/L. Non-
sensitised women who are rhesus negative with a confirmed ectopic
pregnancy should receive anti-D immunoglobulin.

Chronic pelvic pain healthcare costs associated with CPP are very
considerable and dont even taken into account the disability and suffering
of the woman never mind the loss of earnings and cost to the employer.
Generally in these women the rate of dysmenorrhoea was 16.8-81%, the
rate of dyspareunia was 8-21.8% and that of non-cyclical pain was 2.1-
24%. The definitions of CPP are numerous but the best suited is
intermittent or constant pain in the lower abdomen or pelvis of at least 6
months duration, not occurring exclusively with menstruation or
intercourse and no associated with pregnancy.

Acute Chronic
Well defined onset Ill-defined onset
Short duration Unpredictable duration
Rest often helpful Reset usually not helpful
Variable intensity Persistent
Anxiety common Depression common
Disease symptom Cause may not be found
Page | 571

The management of CPP is difficult as there are many possible causes and
contributory factors. An association with dysmenorrhoea, dyspareunia,
irregular menstruation, abnormal vaginal discharge, cyclical pain and
infertility may all suggest an underlying gynaecological problem. Altered
bowel habits, excess flatus, constipation or diarrhoea on the other hand
point towards a GI cause. Psychiatric, urological and musculoskeletal
causes are further possibilities.

Physical and sexual abuse, as well as pelvic pathology such as
endometriosis, adhesions and pelvic varices, predisposes women to CPP.
Up to 40% of women with CPP do not have an identifiable biological cause
despite extensive investigations. It is important to half extra
investigations if no pathological is identified to limit iatrogenic damage.

Pelvic infection

Chronic pelvic infection is associated with a high incidence of tubal
damage, and consequently an increased incidence of ectopic pregnancy,
infertility or CPP. It may be due to relapse of infection because of
inadequate treatment, re-infection, a different STI or post-infection tubal
damage. The severity of the problem is related to the number of episodes
of PID and pelvic adhesions.

Ovarian cysts the majority of these are benign, particularly those
presenting with acute pain. Pain may occur because of torsion, cyst
rupture or bleeding. Management depends on the situation but torsion
requires removal.

Other causes If tests are negative then it may be worth considering a 3
month trial of ovarian suppression with a GnRH analogue if a
gynaecological cause is still suspected. A strongly positive response
indicates a possible gynaecological cause and the patient may benefit
from a hysterectomy.

No identified cause

These women are hard to treat and the first step is to get the women to
except chronic pelvic pain as a syndrome. Managements range from
psychosocial therapy, analgesia, hormones, antidepressants and
complementary therapies, to surgery and pelvic clearance.
Encouragement to lead as normal life as possible whilst investigations and
treatments are instigated is acknowledged to be very important in
recovery. This includes return to work, exercise, healthy lifestyle, looking
for alternatives to analgesia and use of complimentary therapies.

Page | 572

Chapter 16 Endometriosis

The term endometriosis refers to tissue resembling the endometrium lying
outside of the endometrial cavity. It usually lies within the peritoneal
cavity and predominantly in the pelvis, commonly on the uterosacral
ligament behind the uterus. Rarely it can also be found in distance sites
such as the umbilicus, abdominal scars, perineal scars and even the
pleural cavity and nasal mucosa. Like the true endometrium it responds
to cyclical hormonal changes and it bleeds at menstruation. Adenomyosis
occurs when there is endometrial tissue within the myometrium of the
uterus. The uterus is enlarged and feels boggy. There is painful and heavy
menstruation. Adenomyosis is usually only apparent retrospectively with
examination after hysterectomy. It is considered a different condition with
a different population and aetiology.

Incidence occurs in 1-2% of women of reproductive age but among
infertile women the incidence may be 20 times greater. As it is oestrogen
dependent it is rarely diagnosed postmenopausal but recurrence has been
associated with the use of HRT.

Aetiology the precise aetiology remains unclear. Sampsons
implantation theory suggests than endometrial fragments flow in a
retrograde manner along the fallopian tube during menstruation and seed
themselves in the pelvic peritoneum. Seeding is also observed onto scars
such as after hysterectomy or c-section or on perineal scars after
delivery. This cannot be completely true thought as endometriosis can
occur in women with congenitally blocked tubes. Another theory is that
cells of coelomic membranes transform into endometrial cells by
metaplasia due to hormone stimulation or inflammation. Sometimes
endometriosis may even be explained by neoplasia, particularly so when
there is a solitary ovarian endometrioma.


In most instances clinical presentation occurs because of pelvic disease.
Endometriosis is the commonest cause of secondary dysmenorrhoea.
There is usually a continuous, non-spasmodic pain, which is worse
immediately before and throughout menstruation, and colicky
dysmenorrhoea may also occur in association with heavy menstrual loss
and the passage of clots. There may also be dyspareunia, which may
relate to endometriotic deposits in the pouch of Douglas or to ovarian
endometriomas. Typically the pain will settle when the period ends but
some women also describe a continuous lower abdominal pain that is not
specifically related to their cycle or sexual activity.

Page | 573

There also seems to be a lack of correlation between the severity of
symptoms and extent of disease. Sometimes extensive deposits can
completely obliterate the pouch of Douglas and yet be completely
asymptomatic whereas other women may only have lesions a few
millimetres across which can cause debilitating pain. Menstrual
disturbances can be associated with endometriosis and particularly
adenomyosis. Where there is significant ovarian involvement the
menstrual cycle may be erratic. Rarely postcoital bleeding occurs if the
ectocervix is involved or where deposits in the pouch of Douglas invade
the posterior fornix. Endometriosis at distant sites is rare but generates
local symptoms such as cyclical epistaxis or monthly rectal bleeding.

Examination

The diagnosis of endometriosis is aided by findings of:
Thickened pelvic ligaments, particularly the uterosacral ligaments
A fixed (immobile) retroverted uterus
Uterine or ovarian enlargement if these organs are involved

There may also be tenderness in the lateral and posterior fornices and
with applied pressure on the uterosacral ligaments. Attempts to move the
uterus may also provoke pain and this often resembles the presenting
symptoms, particularly if dyspareunia. However none of these features
are diagnostic of endometriosis and their absence does not exclude the
disease. There are many other causes of pelvic pain which include IBS
and recurrent UTIs which may confuse the differential diagnosis. Since
symptoms of PID and pelvic venous congestion can mimic those of
endometriosis it is important to perform a laparoscopy to make the
diagnosis.

Endometriosis and infertility

Endometriosis is commonly diagnosed when investigating women
laparoscopically for infertility. Although the relationship between
endometriosis and infertility cannot be explained by chance, the exact
mechanism is unclear. Possible mechanisms are classified by the system
they affect:
Coital function dyspareunia
Sperm function inactivation of spermatozoa by antibodies,
phagocytosis of spermatozoa by macrophages
Tubal function fimbrial damage, reduced tubal motility with
prostaglandins
Ovarian function anovulation, altered release of gonadotrophins,
luteolysis cause by prostaglandin

It is recognised that severe disease can cause periovarian and peritubular
adhesions but this is not thought to be a problem in milder disease.
Page | 574

Theoretically high prostaglandin production from endometriotic tissue
could impede tubal motility. Another possibility is that infertility caused by
some unrelated factor may predispose to endometriosis simply because,
in the absence of pregnancy and Lactational amenorrhoea, there will have
been more periods. An associated with luteinized unruptured follicle
syndrome, in which follicular development proceeds along apparently
normal lines but oocyte release does not occur, provides another
explanation.

Investigations

Transvaginal ultrasound can detect gross endometriosis involving the
ovaries and MRI can delineate the extent of active endometriosis lesions
greater than 1cm in diameter in deep tissues. Laparoscopy remains the
traditional diagnostic method. Active endometriotic lesions are classically
described as red, puckered and inflamed. Inactive lesions look like scars.
Little is known about the rate of progression of low-grade endometriosis
but a proportion of untreated patients may deteriorate over as little as 6
months.

Management

Medical treatment with NSAIDs and/or simple analgesia is widely
employed and many women will be self-prescribing prior to diagnosis.
Medical treatment with ovulation suppression is most useful for
symptomatic relief, but is of no value for the treatment of endometriosis
in patients wishing to conceive. Treatment is usually limited to between 3
and 6 months. Surgical treatment may be conservative, with laser or
diathermy ablation, or radical, involving hysterectomy and oophorectomy.

Medical treatment

Ovulation suppression limits the likelihood of conception but the use of
barrier contraceptives is still advised. To avoid administration during
pregnancies all therapies are started within the first 3 days of the start of
a menstrual period. Medical treatment is founded on the observation that
endometriosis improves during both pregnancy and the menopause; so,
creating a pseudo-pregnancy with progestogens or COCP and a pseudo-
menopause with gonadotrophin releasing hormone (GnRH) analogues is
appropriate and frequently effective.

For symptomatic endometriosis continuous progestogens therapy is most
cost-effective, has fewer side effects and is more suitable for long-term
use compared with more expensive alternatives. These have a direct
effect on endometrial tissue by binding to progestogens receptors. This
produces decidualisation of the endometrial tissue which leads to
subsequent necrosis. The COCP is also effective if taken continuously to
Page | 575

produce amenorrhoea. The usual risk factors for suitability for using the
COCP should be evaluated, bur if appropriate and symptoms are
alleviated then it can be taken for several years or longer.

Second-line drugs are GnRH analogues (nasal spray, implant or injection)
and the orally administered androgen danazol. GnRH analogues and to
the GnRH receptor in the pituitary, initially stimulating gonadotrophin
release but rapidly desensitising the pituitary to GnRH stimulation,
thereby in turn suppressing gonadotrophin release and hence ovarian
steroid secretion. The profound hypo-oestrogenic state produced not only
affects endometrial tissue but also carries side effects. Therapy is limited
to 4-6 months and it is routine to prescribe add-back HRT to alleviate
predictable menopausal side effects and negative effects on bone density.
Danazol combines androgenic activity with anti-oestrogenic and anti-
progestogenic activity, and it inhibits pituitary gonadotrophins. It has a
high incidence of androgenic and perimenopausal side effects making it
an infrequent treatment choice.

Medical treatment can also be used as a diagnostic tool. By achieving
amenorrhoea and symptom relief, then it is extremely likely that the
symptoms were due to endometriosis.

Surgical treatment

When continued fertility is required, conservative surgery is appropriate.
This is usually carried out laparoscopically and includes diathermy
destruction, laser vaporisation or excision of endometriosis deposits. It
may bring about symptoms of relief and has a role in subfertile women.
Recurrence risks following surgery are as high as 30%. Hysterectomy with
bilateral oophorectomy for women who has completed their childbearing
is usually curative. HRT will be needed, although this may active residual
disease, the possibility may be minimised by using some form of
combined preparation rather than an oestrogen only form.

Fertility treatment

This is no evidence that the medical treatment of endometriosis is of any
value in the management of subfertility. Surgical ablation or excision of
minimal and mild endometriosis does improve fertility but whether
surgery has a role in more extensive disease is less clear.

Complications, prognosis and long-term sequelae

Depending upon the severity of the disease, adhesions and fibrosis may
distort bowel, bladder, ureters and other neighbouring viscera, leading to
chronic problems with these systems. The physical and psychological
morbidity from long-term pain can be considerable.
Page | 576

Chapter 17 Premenstrual syndrome

Premenstrual syndrome (PMS) can be defined as a condition manifesting
with physical, behavioural and psychological symptoms in the absence of
organic or psychiatric disease, which regularly occurs during the luteal
phase of each ovarian cycle and which disappears or significantly
regresses by the end of menstruation. PMS is considered severe if it
impairs work, relationships or usual activities. It is thought that up to
95% of women suffer mild symptoms and 5-10% of women have
symptoms severe enough to severely disrupt their lives, principally in the
2 weeks leading up to the start of menstruation. Over 150 symptoms
have been attributed to PMS but particularly:
Mood changes/irritability
Abdominal bloatedness
Breast tenderness (cyclical mastalgia)
Headaches
Oedema

Aetiology this remains largely unknown for PMS. Ovulatory cycles are
generally considered to be a necessary pre-requisite. Many hypotheses
have considered whether there may be abnormal levels of particular
hormones but none have been found (oestrogen, progesterone,
vasopressin, LH, TSH and adrenocorticotrophic hormone). It is suggested
that it is their changing pattern rather than the absolute levels which is
important. There may be an abnormality in levels of neurotransmitter
function, particularly serotonin.

Clinical presentation As there are no specific biochemical tests for PMS
the diagnosis is dependent on a prospective charting of symptoms to
confirm that there is a true exacerbation in the luteal phase when
compared to the follicular phase of the cycle. A simple calendar to record
the womans three key symptoms along with her cycle is adequate.

Differentials Symptoms that are worse at other times as well as
premenstrually are not attributable to PMS. Other conditions such as
endometritis, migraine headaches, depression and anxiety disorders are
exacerbated premenstrually, but again should not be confused with PMS.
Perimenopausal mood changes are usually non-cyclical and it may be
worth checking FSH levels if this is suspected. A normal FSH does not
exclude menopause but investigations may be particularly important in
those who do not menstruate e.g. hysterectomy with ovarian
conservation. The breast pain of PMS is usually cyclical, bilateral and
poorly localised with lumpiness being common. By contrast, non-cyclical
breast pain is precisely localised and rarely bilateral.
Page | 577

In those with abdominal swellings it is important to consider intra-
abdominal pathology such as an ovarian cyst or ascites. The abdominal
bloating of PMS should be rapidly relieved by menstruation, perhaps
owing to the relaxing effect of prostaglandins on smooth muscle or to
comparative stasis of the gut in response to morphine like endorphins.
Hypothyroidism and anaemia should be considered in those complaining
of fatigue. The characteristics of endogenous depression are different to
those of the mood changes and irritability commonly observed in PMS
but, since both are common, these can coexist in some women.

Management

Women with mild PMS usually do not need management. General health
measures such as improved diet, increased exercise, self-relaxation and
reducing smoking and drinking might be helpful.

Symptomatic treatment a number of treatments are in use here
although there is limited evidence for them. With premenstrual bloating
this can be treated like IBS whilst oedema may respond well to a diuretic.
Breast tenderness can also be treated with diuretics as well as with
bromocriptine or low-dose danazol.

Treatment aimed at the hypothesised cause treatments can be divided
into probably effective, may be effective and probably not effective.

Probably not effective:
Progesterone or progestogens the rationale for these are based on
the unsubstantiated premise that there is a progesterone deficiency.
Evening primrose oil the hypothesis is that there is a deficiency in
essential fatty acids leading to low prostaglandin levels. It has
minimal side effects and is targeted primarily for mastalgia.
Vitamin B
6
taken daily during the luteal phase but there are safety
concerns and it has not been shown to help

May be effective:
Diet reduce salt, sugar, alcohol and caffeine whilst increasing
carbohydrates to increase the serotonergic activity which in turn
improves symptoms
Exercise aerobic activity improves endorphin levels which are
recognised to improve mood
Psychological approach techniques aimed at reducing stress i.e.
CBT and relaxation can be helpful. A clinical psychology service
should be made available for those with severe disease.
Complementary therapy homeopathy, dietary supplementation,
relaxation, massage, reflexology, chiropractic therapy and
Page | 578

biofeedback are thought to provide some benefit but this is not
proven.

Probably effective:
Selective serotonin reuptake inhibitors (SSRIs) PMS often
presents with symptoms similar to those of anxiety and depression
and this association has resulted in treatment with a variety of
antidepressants. Around 60% of those with severe PMS have
reported a reduction in physical and behavioural symptoms when
taking antidepressants compared to 30% of controls. This
effectiveness is often apparent after only one or two cycles. Side
effects include insomnia, GI disturbances, fatigue and loss of libido
but these may be acceptable at low doses. Intermittent use in the
luteal phase may be as effective as continued daily dosing. A
gradual rather than abrupt withdrawal of SSRIs is appropriate if the
SSRI has been taken on a continuous basis, in order to avoid
symptoms of withdrawal.

Ovarian suppression since the majority of PMS symptoms can be
attributed to cyclical ovarian hormone productions, the suppression
of ovulation is a logical treatment option. It seems logical to take
the COCP continuously to avoid ovulation but the effectiveness of
this is unclear. A long acting depot progesterone may also be
effective.
The synthetic androgen danazol suppresses ovulation and a
relatively low dose of 200mg bd is effective in improving the
symptoms of mastalgia. This drugs use is limited by its potential for
irreversible virilisation. Effective contraception is needed whilst on it
to prevent virilisation of a female fetus.
Transdermal oestrogen by patches designed for HRT is associated
with improved PMS symptoms. If the woman has not had a
hysterectomy then progesterone is also required to prevent
endometrial stimulation, hyperplasia and possible malignant
transformation. The lowest dose of progesterone is appropriate and
this is usually by the IUS.
Gonadotrophin releasing hormone (GnRH) analogues are a highly
effective way of suppressing ovarian function and are hence a
highly effective treatment of refractive PMS. As oestrogen is
suppressed to post-menopausal levels the symptoms of PMS may
be replaced by those of menopause including hot flushes. These can
be minimised by the continuous use of add back HRT. A therapeutic
trial of this is often useful. Treatment cannot be continued too long
due to the risk of osteoporosis and other side effects. GnRH
analogues are licensed for use over 6 months only and are not
specifically licensed for PMS.
Bilateral oophorectomy this is an effective treatment for PMS but
has its surgical risks. There are also the long term risks of
Page | 579

premature menopause mentioned above. This procedure should
only be considered in those who are likely to benefit significantly,
who have had a definite response to GnRH analogues, who have
finished their families and who are not close to their natural
menopause.

Individual management strategy

There are many different treatments and it can be hard to choose which
one will provide the most benefit. It is important to consider side-effect
profiles as they may be used over many years. It seems sensible to try
those treatments with fewest side effects first and then build up. An SSRI
should be the first line drug choice and is used initially just in the luteal
phase, moving to continuous use if not effective in 2-3 cycles. The next
stage is ovarian suppression with GnRH. Success with this leaves a
dilemma as long term use is not an option. Long term suppression with
progesterone injections 3 monthly and surgical oophorectomy are the
main subsequent options to be considered.

Chapter 18 The Menopause

Menopause literally means last menstrual period but the word is often
used to cover the physiological changes that occur around this time. The
fluctuating levels of oestrogen resulting from declining ovarian function
lead to changes in a number of systems, and may give rise to significant
symptoms. Although physiological, the menopause has important adverse
long-term effects o health which can, in part, be offset by HRT.
Short term headaches, flushes, night sweats, palpitations, poor
concentration and mood
Urogenital urethral symptoms, uterine prolapse, stress/urge
incontinence, dyspareunia, atrophic vaginitis
Cutaneous problems vaginal dryness, dry hair/skin, brittle nails
Arterial cardiovascular disease, cerebrovascular disease
Skeletal osteoporosis

Physiology

The perimenopause (or climacteric) may begin months or years before
the last menstrual period, and symptoms may continue for years
afterwards. The median age of menopause in the UK is 50.8 years and it
occurs when the supply of oocytes is exhausted. A newborn girl has over
500,000 oocytes at birth, a third of which are lost by puberty. The
remainder are lost during reproductive live (around 20-40 per cycle with
the rest being lost spontaneously). In premenopausal women oestradiol is
produced by the granulosa cells of the developing follicle, but this become
Page | 580

variable as the menopause approaches. The proportion of anovulatory
cycles increases and progesterone production declines. Pituitary
production of FSH and LH rises because of diminishing negative feedback
from oestrogen and other ovarian hormones, such as inhibin, but other
pituitary hormones are not affected. Serum levels of FSH over 30IU/L can
be used to clarify a diagnosis of menopause although these levels rise
significantly around the age of 38 in normal women. Anti-Mullerian
hormone is a better marker of follicular reserves.

Circulating androstenedione, mainly of adrenal origin, is converted by fat
cells intro oestrone, a less potent form of oestrogen than oestradiol. After
the menopause this is the predominant circulating oestrogen rather than
ovarian oestrogen.

Signs and symptoms

Vaginal bleeding irregular periods before the menopause are usually the
result of anovulatory menstrual cycles and, if irregular bleeding persists,
endometrial assessment may be required to exclude endometrial cancer.
The menopause can itself only be recognised in retrospect after an
arbitrary length of amenorrhoea, usually taken as 6 months or a year.
Approximately 10% of women having postmenopausal bleeding have a
gynaecological malignancy.

Hot flushes this is an uncomfortable subjective feeling of warmth in the
upper part of the body, usually lasting around 3 minutes. Approximately
50-85% of menopausal women experience such vasomotor symptoms,
although only 10-20% seek medical advice. Flushes are sometimes
accompanied by nausea, palpitations and sweating and can be particularly
troublesome at night. They are thought to be of hypothalamic origin and
may in some way be related to LH release. It is thought that a fall in
oestrogen levels affects central alpha-adrenergic systems which in turn
affect central thermoregulatory centres and LH-releasing neurones. About
20% of women start experiencing these whilst still menstruating
regularly. Flushes slowly improve as the body adjusts to the new low
oestrogen concentrations, but in approximately 25% of women they
continue for more than 5 years. Exogenous oestrogen administration in
the form of HRT is effective in relieving these symptoms in about 90% of
cases.

Genitourinary atrophy the genital system, urethra and bladder trigone
are oestrogen dependent and undergo gradual atrophy after the
menopause. Thinning of the vaginal skin may cause dyspareunia and
bleeding, and loss of vaginal glycogen causes a rise in pH which can
predispose to local infection. Urgency of micturation may result from
atrophic changes in the trigone. Unlike flushes, these symptoms may
appear years after the menopause and do not improve spontaneously,
Page | 581

although they do respond well to a short course of local or system
oestrogen.

Other symptoms some studies suggest that irritability and lethargy may
also be improved by HRT

Long term effects

Breast cancer although the risk of this increases with age, the rate of
increase slows after the menopause. The risk of breast cancer is
decreased if the menopause is premature and increased if it occurs late,
such that a woman who has had a menopause in her late 50s has double
the risk of a woman who has had a menopause in her early 40s.

Cardiovascular disease a premenopausal womans risk of developing
CVD is 1/5 of that of a man of the same age but this difference
disappears by the age of 85. It has been shown than unopposed
oestrogen may reduce the risk of ischaemic heart disease but other
studies have shown no protective effect.

Osteoporosis bone reabsorption by osteoclasts is accelerated by the
menopause. Oestrogen receptors have been demonstrated on bone cells,
and oestrogens have been shown to stimulate osteoblasts directly.
Calcitonin and prostaglandins may also be involved. In the first 4 years
after menopause there is an annual loss of 1-3% bone mass, falling to
0.6% per year thereafter. This leads to an increased risk of fracture,
particularly of the distal radius. Women who are low weight have a higher
risk of osteoporosis because of reduces peripheral conversion of
androgens to oestrogen. Women of afro-Caribbean origin have a smaller
risk as they start with a higher bone density. HRT has a very significant
benefit in reducing the incidence of osteoporosis and osteoporotic
fractures. Administration of oestrogen decreases fracture risk; however, it
is not recommended as a first-line treatment, as the long term risks
(mainly stroke) are considered to outweigh the benefits.

Diagnosis the menopause can be confused with PMS, depression,
thyroid dysfunction, pregnancy and even phaeochromocytoma.
Vasomotor symptoms may be caused by calcium antagonists and by
antidepressant therapy, especially tricyclics. The diagnosis of menopause
is usually clinical and can only be made in retrospect after 6-12 months f
amenorrhoea. If there is some clinical confusion then there may be some
value in checking FSH levels which should be >30IU/L postmenopausally.
It should be noted that the FSH levels peak physiologically mid-cycle,
making it worth rechecking a second time if high. If there is still some
doubt then a therapeutic trial of HRT in women older than 45 may be
considered.

Page | 582

Hormone therapy

Oestrogen supplementation is the basis of replacement therapy. Although
progestogens may have a small role in relieving vasomotor symptoms,
they are added to oestrogen to protect the endometrium and reduce the
hyperplasia that would otherwise result. The oestrogens may be
systemically administered as daily oral tablets, twice-weekly or weekly
transdermal patches or subcutaneous implants administered every 6-8
months. Daily nasal sprays, skin creams and three monthly vaginal rings
are also used. Whatever the route, women who have not undergone
hysterectomy should be placed on a regimen which includes a
progestogen to minimise the risk of endometrial cancer associated with
unopposed oestrogen therapy.

Oral preparations

The oral route may have more beneficial effect than parenteral therapy on
lipid profiles, leading to higher HDL than LDL but is potentially thrombotic.
The combined form of tablet may be given cyclically or continuous.
Cyclical preparations, which usually lead to monthly withdrawal bleeds,
are used perimenopausally, and the continuous combined preparations
are an option for more than 2 years after the LMP. Alternatives to these
include tibolone and raloxifene. Tibolone is a synthetic steroid with weak
oestrogenic, progestogenic and androgenic effects, which may be started
2 years after the LMP. Raloxifene is a synthetic selective oestrogen
receptor modulator, has oestrogenic effects on bone and lipid metabolism
but has minimal effect on uterine and breast tissue. It is therefore
ineffective for controlling perimenopausal symptoms but it has a useful
role in protecting against osteoporosis and it does not cause vaginal
bleeding.

Transcutaneous administration these are available as unopposed
oestrogen or combined cyclical/continuous preparations. The advantage of
this route is that it avoids GI side effects and minimises the effects on
hepatic production of both lipoproteins and coagulation factors. Patches
are applied to the buttock and last 3-7 days depending on formulation.

Subcutaneous implants estradiol may be implanted into subcutaneous
fat, usually in the lower abdomen, at intervals of 6 months. The oestradiol
levels do not always fall away to baseline before symptoms occur and
there is the risk of tachyphylaxis (needing higher and higher oestrogen
levels).

Vaginal preparations these include tablets, ring pessaries and vaginal
creams. They are useful in treating atrophic vaginitis.

Risks and side effects of hormone treatment
Page | 583

General nausea and breast tenderness can occur in 5-10% of patients.
Uterine bleeding is less common with low dose regimens and irregular
bleeding needs investigating.

Endometrial carcinoma unopposed therapy increases the incidence of
endometrial cancer fourfold and hence it should only be used in those who
have had a hysterectomy. With opposed therapy the RR is less than 1.
The IUS is effective progesterone to use in this situation.

Breast cancer a link between oestrogen treatment and breast cancer is
plausible and there is a small increase in risk over 5 years use of HRT.
There is no risk in those who stopped taking HRT more than 5 years
previously. It may be that breast cancer diagnosed while on HRT is more
curable.

Other cancers any evidence is equivocal and any effect is likely to be
very small

VTE disease there is an increases risk in the first year with a RR of 4.0
in the first 6 months and 3.0 in the second 6 months. There is apparently
no increased risk in those taking it beyond 1 year.

Stroke there is a significant increase in the likelihood of stroke in all age
groups, although the impact is small in younger menopausal women as
the baseline risk of stroke is so low.

Contraindications to hormone treatment

Pregnancy, VTE (personal or family history), liver disease and
undiagnosed vaginal bleeding are all contraindications. Treated
hypertension and other cardiovascular risk factors are probably not
contraindications. Use of oestrogen containing HRT is widely considered to
be contraindicated following breast carcinoma and following advances
endometrial carcinoma. There are also theoretical reasons as to it being
avoided in ovarian cancer.

Duration of HRT

When oestrogens are given for vasomotor symptoms, they are generally
continued for 2 or 3 years and then stopped. Whether to continue therapy
beyond this time depends on whether symptoms recur and on weighing
up the risks of osteoporosis against the potential side-effects of breast
cancer and VTE disease for the particular individual.

Non-hormonal treatment

Page | 584

Drugs vasomotor symptoms may be reduced by clonidine, which acts
directly on the hypothalamus, but in practice it is of limited value. The
SSRIs have been shown to be effective. Palpitations and tachycardia may
be improved by beta-blockers. Sedatives, hypnotics and antidepressants
may be helpful in the treatment of non-vasomotor symptoms. The first
line treatment for osteoporosis is now a bisphosphonate and oestrogen is
used only for those where this is inappropriate. In elderly women,
supplementation with calcium, calcitonin and vitamin D reduces the risk of
hip fracture. Moderate exercise may slow the rate of bone loss though
compliance to these programmes is often poor.

Psychological support

Some women with menopausal symptoms need only reassurance. Others
who have particular stresses in their lives may have their problems
accentuated and here psychological support may be helpful.

Chapter 19 Genital prolapse

Uterovaginal prolapse is described as the descent of some of the pelvic
organs (urethra, bladder, uterus, small bowel and rectum) into the
vagina. The structures lying immediately above the vagina are in close
proximity to each other and, if the integrity of the pelvic fascia is
disrupted, descent of a single organ seldom occurs in isolation.

Aetiology

This is multifactorial and the main predisposing factors include childbirth,
menopause, congenital, genetic and suprapubic surgery. In addition
obesity, chronic cough and constipation, which all raise intra-abdominal
pressure, can aggravate the condition.

Childbirth this result in trauma to the pelvic floor and loss of tissue
support to the female pelvic organs. Vaginal delivery and particularly
multiparity may disrupt the fascia and cause ligament weakening. A
prolonged labour, in particular a prolonged second stage, a large baby
and perineal trauma, have all been implicated in causing direct damage to
the fascia and neuromuscular tissue of the pelvic floor.

Menopause this state is characterised by an oestrogen deficiency and
loss of connective tissue strength, both of which are causative factors in
the development of a prolapse. This may be because oestrogen influences
collagen formation.

Page | 585

Congenital congenital weakness and neurological deficiency of the
tissues account for prolapse in a small proportion of women. Anatomical
variants may also make some women more susceptible.

Gynaecological surgery suprapubic surgical procedures for urinary
continence alter the anatomy such that the bladder neck is behind the
symphysis pubis. This increases gravitational effects on the pouch of
Douglas, prolapse of which leads to enterocele. Prolapse of the vaginal
vault is a not uncommon long-term consequence of a hysterectomy.

Genetic many genetic factors are implicated. For example it is
uncommon for prolapse to occur in an African population.

Classification

Urethrocele/cystocele A Urethrocele is descent of part of the anterior
vaginal wall which is fused to the urethra. This is approximately the first
3-4cm of the anterior wall superior to the urethral meatus. Any descent of
this tissue may alter the urethrovesical angle and disrupt the continence
mechanism, predisposing to stress urinary incontinence (SUI). The
bladder base lies immediately above this. Descent of this area is termed a
cystocele. Urethroceles and cystoceles are often considered together and
when both are present the term cystourethrocele is used.

Uterus and cervix the cervix occupies the upper third of the vagina and
descends when there is uterine prolapse. Uterine prolapse can be
classified as first, second or third degree.
1
st
uterus and cervix descent into vagina but cervix does not
reach introitus (entrance)
2
nd
cervix reaches level of introitus
3
rd
cervix and uterus protrude out of the vagina

Procidentia is a term used when the cervix, uterus and vaginal wall have
completely prolapsed through the introitus. Exposure of the cervix and
vagina outside the introitus may lead to ulceration of the cervix and
thickening of the vaginal mucosa.

Rectocele weakening of the tissue that lies between the vagina and
rectum (rectovaginal fascia) allows the rectum to protrude into the lower
posterior vaginal wall, causing a Rectocele. Laxity of the perineum may
also be present which gives a gaping appearance to the fourchette (the
posterior margin of the introitus).

Enterocele an enterocele is the only type of vaginal prolapse which is
truly a hernia. It has a sac, neck and contents. The sac is a protrusion of
the peritoneum of the pouch of Douglas and may contain small bowel or
omentum.
Page | 586

Symptoms

Prolapse may be asymptomatic and it may only be detected when women
present for cervical cytology. If symptoms are present, they are usually
non-specific but there may be features that are related to a specific type
of prolapse.
Urethrocele and cystocele urinary symptoms (stress incontinence
and urinary frequency)
Cervix and uterus bleeding and/or discharge from ulceration
associated with Procidentia
Rectocele and enterocele bowel symptoms, particularly the feeling
of incomplete evacuation and something having to press the
posterior wall backwards to pass the stool

Non-specific symptoms may be attributed to the stretch effect on tissues.
Women may describe an uncomfortable dragging felling or backache that
characteristically improved when lying down. Women may also describe
something coming down. Coital difficulties are uncommon. Anterior wall
prolapse may cause urinary symptoms because it involves the bladder
and urethra. Over 50% of women with SUI have a significant
cystourethrocele. A large cystocele can cause problems of incomplete
emptying of the bladder, and retained urine then predisposes to recurrent
UTIs. Uterine prolapse does not usually present until the women feels a
lump. Bowel symptoms related to a Rectocele involve a feeling of
incomplete emptying. When straining occurs the Rectocele balloons
forwards and some women need to digitally reduce the rectocele to pass
stool. Enteroceles usually present as a lump but may be also associated
with non-specific lower abdominal discomfort.

Signs

Examination for prolapse should form part of the general gynaecological
examination. Abdominal examination focuses on the possibility of pelvic
masses which may be pushing the pelvic organs downwards. Pelvic
examination should then be performed, initially with the patient supine.
On inspecting the vulva there may be atrophic changes. The woman is
then asked to abduct her legs and strain. By gently parting the labia a
prolapse may be seen at the introitus. Urinary leakage may be apparent
and an assessment of the perineum can also be made. A bimanual
examination may then be performed, and may give a useful indication of
uterine descent. Examination in the left lateral position is also helpful and
allows systematic examination of the entire vagina. A speculum should be
used, a particular attention paid to the posterior wall when it is
withdrawn. If the prolapse is not apparent when lying down then the
woman may need to be examined whilst standing.

Page | 587

Management

If a prolapse is not causing symptoms and the woman is unaware of it,
then one must question whether treatment is necessary.

Conservative

This option may be considered if a woman does not want, or is not fit
enough, for surgery. Conservative measures can also be used for
temporary relief before surgery and even as a therapeutic test to see if
reduction of the prolapse improves specific symptoms. Pelvic floor
exercises are not effective when a prolapse is well established. They do
have a role in the treatment of associated urinary incontinence, but their
main value may be as prophylactic intervention, particularly postpartum
and postoperatively. Pessaries are commonly used. A ring pessary is an
inert plastic ring which is placed in the vagina so that one edge of the ring
is behind the pubic symphysis and the other is in the posterior fornix. The
ring tends to support the uterus and vault of the vagina. It may also help
reduce a cystocele but it will not reduce a rectocele. Once a ring is fitted it
needs to be changed every 4-6 months. At this examination the vagina is
inspected for atrophic changes and ulceration due to pressure necrosis.
Complications from the ring can include urinary symptoms (frequency and
infection), vaginal discharge, bleeding or very rarely a fistula. If atrophy
of the lower genital tract is noted in association with the prolapse then a
course of oestrogen therapy (usually cream) may improve vaginal tissue
thickness. This may improve some symptoms and it facilitates any
planned vaginal surgery.

Surgery

Most corrective surgery is performed through the vagina. When
considering a surgical technique particular attention should be given to
preserving the calibre of the vagina if the woman wishes to remain
sexually active.

Anterior vaginal wall repair anterior vaginal wall prolapse can be
associated with stress urinary incontinence which may need to be
investigated prior to surgery. The principle of this surgery is to make a
midline incision in the vaginal wall and reflect the underlying bladder off
the vaginal mucosa. Once this is achieved, lateral supporting sutures are
placed into fascia in order to elevate the bladder and bladder neck. The
remaining redundant vaginal skin that has been ballooning down is
excised, and the vaginal skin is then sutured closed.

Uterine descent (vaginal hysterectomy) vaginal hysterectomy is
commonly performed for uterine prolapse but it cannot be assumed that
this is always an option, particularly if there are large fibroids. One should
Page | 588

also consider if the uterus is being pushed down by a mass above such as
an ovarian cancer, or whether bowel is likely to be adherent to the uterus.
Once the uterus is removed the supporting ligaments should be
approximated so as to prevent further prolapse of the vaginal vault.

Posterior vaginal wall repair the principles are the same as for an
anterior repair and the operation can be combined with a repair of the
perineal body to support the perineum. As the procedure reaches the
apex of the rectocele the surgeon must identify whether there is an
enterocele and if present the peritoneum must be opened. The hernia sac
must be transfixed and excised and supporting lateral tissue
approximated in order to prevent recurrence.

Total vaginal prolapse (after hysterectomy) this is where the vagina
undergoes complete eversion. It is effectively a Procidentia without the
uterus. Surgical options include a sacrocolpopexy (suturing vaginal vault
to body of sacrum), sacrospinous fixation (fixation to sacrospinous
ligaments) and vaginal mesh insertion.

Chapter 20 Urinary incontinence

It is thought that between 10% and 20% of the adult female population
are incontinent of urine on one or more occasion per month. This rate
changes little with age until over the age of 75 where it affects 25-50% of
women. Certain conditions predispose to incontinence including faecal
impaction, decreased mobility, confusional states and the presence of
certain drugs, including diuretics and hypnotics. There is contradictory
evidence on any relationship between incontinence and previous
hysterectomy.

Types of urinary incontinence

The commonest types are: stress urinary incontinence (SUI), overactive
bladder (OAB), retention with overflow and fistula. SUI is the commonest
cause in women, accounting for between 60-70% of cases. SUI is a
sign/symptoms but, if this is proven with urodynamic studies, then it is
called urodynamic stress incontinence. SUI is leakage that occurs when
there is a rise in intra-abdominal pressure, therefore pressure without a
detrusor contraction. Women therefore notice leakage on coughing,
laughing, sneezing etc. In severe cases it can even be on walking or rising
from sitting.

An overactive bladder, previously called detrusor instability, occurs when
a woman is incontinent in response to an involuntary detrusor
contraction. This accounts for around 30% of cases. The woman will
Page | 589

experience sudden urgency, and if the contraction persists then she will
be incontinent. She will tend to complain of urinary frequency, nocturia
and, in severe cases, nocturnal enuresis.

Retention with overflow is only common in elderly patients or in those
with a neurological problem. The denervated bladder continues to fill until
it simply spills over, resulting in leakage.

A fistula is an abnormal communication between two epithelial surfaces
and, in the UK, is usually the result of surgery. In less affluent countries
obstructed labour is the primary cause. A communication with the lower
urinary tract and genital tract will result in continuous dribbling
incontinence. Fistulae account for only 1 in 1000 cases in the UK.

It is important to be aware that incontinent women may have more than
one type of coexisting incontinence. An overactive bladder often coexists
with both stress incontinence and with voiding difficulties or retention.

Physiology

In normal women continence is maintained at the level of the bladder
neck. This is termed the proximal urethral sphincter although it is
technically not a muscular sphincter as the muscle is longitudinal rather
than circular. It is thought that this so called sphincter actually acts as a
water tight seal which maintains the pressure in the urethra greater than
the pressure in the bladder. This pressure difference is created by a series
of arteriovenous anastomoses within the wall of the proximal urethra.
Additionally the effect of any pressure around the periphery of a tube acts
to close it, such as in this situation. However the highest pressure is
actually found in the mid-urethra and this is due to a second sphincter in
the distal urethra which is controlled by S2-4 and is voluntary. Further
mechanisms that aid continence are the supportive tissue which holds the
urethra in an intra-abdominal position so pressure exerted on the bladder
is also exerted on the proximal urethra to keep it closed. The supporting
tissues are characterised anatomically as the pubourethral ligaments,
derived from the fascia of the pelvic floor and, to a lesser degree, the
pelvic floor musculature, namely levator ani. It has been demonstrated
that vaginal delivery may denervate both the pubourethral ligaments and
levator ani. Thus vaginal births may predispose to SUI. With OAB the
bladder will relax during filling but then contracts involuntarily causing
urgency, and if a high enough pressure then incontinence.

Aetiology

SUI this clearly requires some weakness of both the proximal and distal
sphincter mechanisms. Whilst no single aetiological factor exists in all
women, there are a series of predisposing factors which often explain the
Page | 590

condition. These include pregnancy, prolapse, menopause, collagen
disorders and obesity.

Vaginal delivery in pregnancy can result in denervation of the pudendal
nerve and hence damage to the supporting tissue of the urethra. The first
vaginal delivery is more likely to cause damage than subsequent
deliveries and this can be prevented by caesarean section. There is also a
transient incontinence that can occur in pregnancy which is a result of
raised intra-abdominal pressure (related to uterine contents) together
with smooth muscle relaxation due to progesterone.

Prolapse is not a cause of SUI per se but the same physiology abnormality
which causes incontinence may cause prolapse. Anterior vaginal wall
prolapse is therefore often a surrogate indicator of a predisposition to
SUI.

Menopause is linked to low oestrogen which reduces the maximal urethral
closure pressure which increases the risk of SUI.

Collagen disorders can affect the pubourethral ligaments which are a
major component of the continence mechanisms.

OAB this can be idiopathic, Neurogenic or psychogenic in origin.

Voiding difficulties the aetiology of this in females is the opposite of
those in males. In women it is due to an underactive detrusor in 90% of
case and only in 10% is it an anatomical obstruction. This is linked to
aging and a natural reduction in muscle fibres and muscle strength. There
is some evidence that young women who put off voiding are more prone
to this problem in later life.


Stand alone symptoms are uncommon and so urinary incontinence
usually presents as part of a symptom complex comprising SUI,
frequency, urgency and nocturia. Voiding problems should also be
enquired about and have similar symptoms to those in men (hesitancy,
poor stream, intermittent stream, straining, feeling of incomplete
emptying and post-micturition dribbling. Symptoms of haematuria or
recurrent UTIs are concerning and merit urological assessment of upper
and lower urinary tracts. Prolapse will coexist with SUI in up to 50% of
cases so enquiry about symptoms is essential. Other symptoms such as
anal incontinence and SUI during sex needed to be checked. A full
medical and drug history are useful to assess potential causes. Nocturia
and incontinence seriously affect quality of life and can leave some people
housebound. It is the second commonest reason for a patient being
unable to return to independent living.
Page | 591

Diagnostic evaluation

Clinical examination all women should undergo an abdominal and pelvic
examination after she has emptied her bladder. Abdominal examination
may reveal a palpable bladder suggesting urinary retention and
infrequently a pelvic mass may be palpated. Pelvic examination may
reveal pelvic organ prolapse or vaginal atrophy. Coexisting symptomatic
prolapse will suggest a surgical solution for the incontinence, whilst
atrophic changes require treatment with vaginal oestrogen. SUI may be
demonstrated by a sharp cough and a brief S2, 3, 4 examination should
be done.

Further investigation

Urinalysis every woman with lower urinary tract symptoms should have
this performed and the presence of leucocytes and nitrites suggests a
UTI. Treatment with broad spectrum antibiotics may be required and an
MSU should be sent in this case. The presence of haematuria should
prompt cystoscopy and US of the upper renal tracts.

Frequency volume chart this is very useful to assess the type of
incontinence and should be ideally done for 2-3 days. As a woman
responds to treatment her frequency volume chart should improve.

Cystoscopy only required for the assessment of haematuria or recurrent
UTIs.

Ultrasound measurement of post-void residual volume this is a simple
non-invasive test which should be performed if there are voiding
difficulties and in all elderly patients with incontinence.

Quality of life questionnaires should be part of every assessment

Urodynamic studies these tests are dynamic assessment of the lower
urinary tract and offer objective information about bladder and urethral
function. They are however invasive, embarrassing, expensive and time
consuming. The aim is to differentiate between SUI and OAB and also to
predict the success of surgery and any complications. Indications include
voiding difficulties, neurological disease, when conservative treatment has
failed, prior to surgery and when surgery has failed.

Treatment

Options include conservative treatment (lifestyle interventions and
bladder retraining), physiotherapy, drug therapy and surgery. Treatment
should start conservatively and work progressively up the scale.
Page | 592

Lifestyle interventions this includes normalising fluid intake to around
1.5l per day, cutting down on alcohol and restricting caffeine, losing
weight (BMI<30), stopping smoking, avoiding carbonated drinks and
treating chronic constipation and cough.

Bladder retraining the objective here is to re-establish cortical control
over voiding. The patient empties her bladder to a strict time schedule,
usually hourly to begin with. The time interval is then increases until a
normal pattern is achieved. The best results are seen when instructed by
dedicated nurses.

Physiotherapy first line for incontinence caused by pelvic floor
dysfunction but can benefit those with OAB. Treatment involves regular
pelvic floor contractions and can take around 6 months to train muscles
effectively. Biofeedback can be used in the form of digital palpation or
electromyogenic feedback to recognise the strength of contractions.
Cones can be used, of different weights, and the woman can try to retain
them vaginally for 10-20 minutes each time. Success rates of 60% have
been noted.

Drug therapy the mainstay of treatment here is anti-muscarinics. The
best estimate of effectiveness is that 50% of women will have up to a
50% improvement in symptoms/ Side effects include dry mouth,
dizziness, nausea and constipation. Surgery is a serious undertaking so
most of the 7 different drugs should be trialled first. Medical therapy for
SUI includes oestrogen or duloxetine. Duloxetine is a combined serotonin
and noradrenaline reuptake inhibitor licensed for use in moderate to
severe SUI. It causes increased stimulation of urethral striated muscles in
the sphincter and enhances contracts.

Surgery for SUI there are many surgical methods but the main one
used now is a tension-free vaginal tape (TVT) which involves inserting a
tape vaginally and providing a mid-urethral support. It then exits
suprapubically being left under no tension. Cure rates are up to 94% but
complications include bladder and vascular injuries. A trans-obturator
tape can be used to minimise the risk of damage.

Surgery for OAB this includes sacral nerve root stimulation, botox
injections, detrusor myectomy and augmentation cystoplasty.

Treatment of voiding disorders - primarily this is clean intermittent self
catheterisation (CISC). This puts the woman in control of her voiding
function and carries less risk of infection than does an indwelling catheter.

Page | 593

Chapter 21 Ovarian neoplasms

Ovarian cancer is the most common of the gynaecological malignancies in
most affluent countries and the incidence is rising. In the UK there are
around 5000 newly diagnosed cases each year and approximately 3700
deaths annually. The overall 5 year survival is 25%. Ovarian cancer
occurs predominantly in the 5
th
, 6
th
and 7
th
decades of life, with the peak
age being 75 years.

Unlike cervical cancer there is no clearly defined pre-invasive ovarian
lesion. Benign, borderline and invasive tumours are recognised but these
are distinct pathological entities and there is little evidence to say one
progresses to another. There is even doubt as to whether the cancer
starts in the ovary and spreads or starts as multicentric disease de novo
and spreads to the ovaries.

Aetiology there are thought to be different aetiologies for different
neoplasms as, for example, germ cell tumours accounts for 25% of
ovarian cancers and occur in much younger woman than do the epithelial
tumours.

Reproductive history a nulliparous women has a higher risk than a
parous woman and the risk is inversely related to parity. It is thought that
the number of ovulatory events is the main risk factor. Hence early
menarche and late menopause also increase the risk whereas oral
contraceptive decrease the risk.

Exogenous oestrogens oral contraceptives have been shown to
significantly reduce the risk of ovarian cancer in later life whereas there is
less substantial evidence for HRT.

Genetic factors although there is an increased risk of ovarian cancer in
those with a family history, this risk is small for most categories except
those with early onset and those with more than one first degree relative
affected. If one affected primary relative has ovarian cancer before 50
years then the risk to the woman is 5% which rises to 25% if there are
two first degree relatives under 50 affected. Only 5-10% of cancers
actually have a direct genetic association and this includes the BRCA1/2
mutations which convey a 10-50% lifetime risk. These women may want
to consider prophylactic bilateral oophorectomy after the completion of
their families.

Pathology

Neoplasms can arise from any element of the mature ovary including its
surface serosal or mesothelial elements. Broadly this can be divided into
Page | 594

epithelial tumours which are the most common (70%), sex cord/stromal
tumours, germ cell tumours and metastatic tumours.

Borderline tumours this group includes tumours which display the
characteristics of malignant tumours but show no evidence of invasion
and hence the prognosis is much better than those with frankly malignant
tumours. Nevertheless survival is not very high and recurrence can occur
up to 20 years later. The treatment is mainly surgical as they are
resistant to chemotherapy.

Epithelial tumours

Serous tumours these are the most common ovarian neoplasm and
account for almost 50% of cases. They also account for 20% of all benign
ovarian tumours and these cases occur primarily in women of
reproductive age. They are bilateral in 20% of cases whereas the benign
form involves both ovaries in 50% of cases.

Mucinous tumours these comprise 20% of tumours and less than 10%
are malignant. They are usually the largest of the common epithelial
tumours.

Endometrioid tumours usually malignant and closely mimic endometrial
cancer is histological appearance.

Clear cell tumours virtually all malignant

Urothelial-like tumours uncommon, unilateral and rarely malignant.

Sex cord/stromal tumours (rare neoplasms comprising 5% of cases)

Granulosa cell tumours most secrete sex hormones, usually oestrogen,
which can cause precocious puberty, irregular menstrual bleeding and
postmenopausal bleeding.

Thecoma/fibroma unilateral and rarely malignant

Sertoli/Leydig cell tumours amongst rarest tumours and occur in young
women in their mid 20s.

Germ cell tumours

This heterogenous group of tumours affects mainly children and young
women and comprises 20-25% of call ovarian tumours. Around 4% are
malignant. They also represent the majority of tumours in children of
which 33% are malignant.

Page | 595

Dysgerminoma comprises at least 50% of this group and there may be
a raised hCG

Endodermal sinus or yolk sac tumour usually affects teenagers and
onset is with sudden pelvic pain and mass,

Choriocarcinoma secretes hCG and has a poor prognosis

Teratoma usually benign and contain elements of all three germ lines.

Metastatic tumours

Secondary tumours in the ovaries are surprisingly common. Spread from
cervical cancer is rare but endometrial cancer is far more frequent. Breast
cancer also spreads here so this needs assessing if either is found. GI
tumours also metastasise here.

Spread ovarian cancers spread by seeding onto peritoneal surfaces and
organs. Those who die do so from intestinal obstruction and cachexia as a
consequence of widespread intraperitoneal disease. Intrahepatic
metastases and malignant pleural effusions are seen, and para-aortic
lymph nodes metastases are found in up to 18% of cases.

Presentation as a rule ovarian cancer tends to present at a late stage.
In general the symptoms are diverse and non-specific and as a result
symptoms will have been present for some time before presentation with
GI problems. The most common complaint is abdominal distension due to
either ascites or masses.

Investigations and staging if there is a low index of suspicion then an
US with tumour markers is done. If there is a higher risk then an MRI can
be used in addition to tumour markers. An x-ray or CT of the chest is
important to look for pleural effusions or macroscopic chest disease.

Tumour markers around 80% are associated with elevated CA125 and
this can also be used to monitor the effectiveness of treatment and
relapse. However this is elevated in several benign conditions including
endometriosis or peritoneal trauma. Conversely a negative result does not
rule out cancer as 50% of stage 1 cancers will have normal CA125. About
65% of ovarian germ cell tumours produce elevated serum levels of hCG,
alpha-fetoprotein or both and again these markers are useful to assess
progress.

Treatment

Benign tumours these require either excision or possibly drainage under
laparoscopic control. There may be difficulty in determining whether the
Page | 596

cyst is benign or malignant but in the majority of young women they tend
to be benign, although the risk of malignancy increases with age. A cyst is
often assumed to be benign if it is unilateral and unilocular with smooth
external and internal surfaces and no solid elements.

Epithelial cancers most people present late here and hence survival is
poor. Because of this the modern approach to treatment is to consider
ovarian cancer as chronic disease. This means the tumour is primarily
treated with the aim of achieving remission but accepting the fact that the
tumour may come back in the future. Treatment is usually a combination
of surgery and chemotherapy which may include aggressive surgery,
removing both ovaries, uterus and omentum. Sometimes complete
excision is unrealistic so surgical debulking is done instead. The
chemotherapy is platinum based and is given over 6 cycles, usually as an
outpatient.

If relapse occurs then further chemotherapy will be required. In younger
women, who want to preserve fertility, it is reasonable to perform
conservative surgery if the tumour is small and restricted to one ovary.

Non-epithelial tumours these frequently occur in young women where
preservation of fertility is important. These types are also often very
sensitive to chemotherapy and radical surgery is therefore inappropriate.

Survival

Overall 5 year survival (all stages) is 25% but varies from 95% to 10%.
The only real way of improving these rates is earlier detection.

Chapter 22 Uterine neoplasia

The uterus consists of both the cervix and the body of the uterus. For
many reason, including their causative factors and their treatment,
tumours arising from the corpus and the cervix are usually regarded as
originating from separate organs so cervical tumours will be discussed in
chapter 24. The majority of uterine tumours arise from the endometrium.
The endometrium consists of both glandular and supporting elements and
it is possible for either to undergo malignant change. The majority of
uterine malignancies are adenocarcinomas arising from the endometrial
glands. Sarcomas of the muscle of the uterus, the myometrium or the
stromal tissue of the endometrium are much rarer.

Incidence endometrial cancer is the second commonest gynaecological
cancer after ovarian cancer and there are approximately 4000 new cases
in England and Wales each year. Its incidence is low in women under 40
Page | 597

but rises rapidly between the ages of 40 and 55 years, levelling off after
the menopause. Approximately 5% will develop in women under 40 and
20-25% will be diagnosed before the menopause. There is evidence that
the incidence is rising in developed countries.

Aetiology the majority of endometrial cancers are associated with
conditions in where there is a relatively high level of oestrogen production
and it is therefore thought that oestrogen has a role in the development
of the disease. High levels of oestrogen can be physiological such as with
obesity, nulliparity and late menopause. The relationship between
diabetes/hypertension and endometrial cancer is the result of increased
obesity in this group of women. Non-physiological causes include HRT
which is unopposed (if opposed then RR<1.0) and oestrogen secreting
tumours which are rare. Endometrial cancer is also seen less frequently in
those who use the COCP, probably as this releases progestogens
throughout the cycle. Women who smoke, and hence are likely to have an
earlier menopause, are also at lower risk.

Type 1 disease is oestrogen dependent and is more common than type 2.
It is seen in women at the time of menopause or soon after and is
generally diagnosed at an earlier stage so has a better prognosis. Type 2
endometrial cancer is probably not related to oestrogen production. It is
seen in older women and progresses more rapidly. The chance of survival
with this type is much lower.

Clinical features and diagnosis

Abnormal uterine bleeding is the cardinal symptoms of endometrial
carcinoma. The bleeding is most commonly postmenopausal and women
with this symptom should be regarded as having malignancy until proven
otherwise. Around 5-10% of women with postmenopausal bleeding will
have a primary or secondary malignancy, most commonly endometrial
cancer (80%), cervical cancer or rarely an ovarian tumour. As
endometrial cancer can occur in younger women, any irregular uterine
bleeding in those over 40 should be investigated. A less common
presentation is bloody, watery or purulent vaginal discharge. Pain is rarely
associated with early disease and indicates late spread to involve bone or
nerve roots. Endometrial cancer can also present with abnormal cells on a
smear. Mode of spread is principally direct through the fallopian tubes and
myometrium by lymphatic and haematogenous spread may also occur.
There are four main methods of diagnosis:

Ultrasound transvaginal scanning can be used to measure the
endometrial thickness in postmenopausal women. If the thickness is less
than 4mm then endometrial cancer is very unlikely. Fluid in the
endometrial cavity is associated with malignancy in 25% of cases.

Page | 598

Endometrial biopsy samples are useful but the success of detecting the
tumour varies depending on the area of the surface sampled. Is view of
the relatively high false negative rates, endometrial biopsy alone is
appropriate only for those at relatively low risk of carcinoma.

Dilatation and curettage this is usually carried out under GA. The cervix
is dilated to allow introduction of the curette and a sample of
endometrium is then taken. Tumours are missed in 10% of cases.

Hysteroscopy the inside of the uterine cavity is directly visualised and a
biopsy and curette can be performed at the same time. Hysteroscopy with
biopsy is considered gold standard.

Pathology

Endometrial pathology can be divided into hyperplasia, carcinoma and
sarcoma.

Endometrial hyperplasia this is a potentially premalignant condition
which is thought to result from persistent and prolonged oestrogenic
stimulation of the endometrium. Simple hyperplasia often occurs in
anovulatory teenagers and in the perimenopausal years. Atypical
hyperplasia coexists with endometrial carcinoma in 5-10% of cases and
many will progress to carcinoma. It is common to treat hyperplasia with
progestogens in young women but to also consider hysterectomy,
particularly if there are atypical changes.

Endometrial carcinoma has a variety of histological appearances
depending on the cell type.

Endometrial sarcoma this is rare and tends to be a locally aggressive
tumour that metastasises early and is generally characterised by poor
prognosis.

Prognostic factors

Endometrial cancer is not less aggressive than other gynaecological
tumours but tends to present earlier so has a much better prognosis.
Stage for stage endometrial cancer has a similar prognosis to that of
cervical cancer. There are many prognostic factors, the most obvious
being the stage of disease. This is an indication of how far the cancer has
spread as well as how aggressive the tumour is. The histological type is
also important. Papillary serous cancer for example has a much poorer
prognosis than other types. Other factors include myometrial invasion,
peritoneal cytology, lymph node metastasis and adnexal metastasis.

Treatment
Page | 599

Before any operation the patient should have a chest x-ray and liver
function tests to look for evidence of metastases. Other possible
preoperative investigations include US and MRI. US can determine the
size of the tumour and predict the presence of myometrial invasion. It is
also useful in determining the presence of advanced disease. MRI is able
to assess the condition of the myometrium and determine the extent of
invasion but is particularly useful for assessing cervical invasion.

In addition to a hysterectomy and bilateral salpingo-oophorectomy, there
is debate as to whether pelvic lymph nodes should be removed, sampled
or left alone. If the tumour is found to have spread outside the uterus
then the treatment needs individualising to the situation. Treatment of
disease in the fallopian tubes or ovaries is relatively easy to manage and
for stage 3 disease there is still a good prognosis. The treatment after
surgery is related to disease stage. Radiotherapy may be used as
adjuvant treatment if the tumour invades the myometrium deeply, as
there is a higher risk of extrauterine disease. Local radiation to the
vaginal vault may prevent recurrence in this area. If disease is
widespread then chemotherapy may be considered.

Recurrence

Most relapses occur early (within 2 years) and are most common in the
vault of the vagina but can be in the lungs, bone, vagina, liver and
inguinal and supraclavicular nodes. 80% of those with recurrent disease
will die within 2 years so quality of life needs to be optimised. Those with
recurrence should be given radiotherapy if not treated with this before.
For the remainder the choice is between chemotherapy and hormonal
therapy. The main hormonal option is high dose progestogens.
Chemotherapy can produce tumour shrinkage in some cases but toxicity
is considerable, not least because these patients are frail and have severe
coexistent medical disorders.

Summary

Endometrial cancer is often considered to be easily treated but, stage for
stage, its survival is approximately that of ovarian cancer. It is fortunate
however that most women present early with postmenopausal bleeding.
Therefore it is vital that these women are picked up on a referred
appropriately.

Chapter 23 Disorders of the vulva

Page | 600

The vulva consists of the mons pubis, labia majora, labia minora, clitoris
and the vestibule. It is covered by keratinising squamous epithelium
unlike the non-keratinised epithelium of the vaginal mucosa. The labia
majora are hair bearing and contain sweat and sebaceous glands.
Bartholins glands are situated in the posterior part of the labia, one on
each side of the vestibule. The lymphatics of the vulva drain to the
inguinal nodes and then to the external iliac nodes. The area is richly
supplied with blood vessels.

Simple vulva conditions

Urethral caruncle this is a polypoid growth from the edge of the urethra
which is most commonly seen after the menopause. The tissue is soft, red
and smooth and appears as an eversion of the urethral mucosa. Most
women are asymptomatic but some experience dysuria, frequency,
urgency and focal tenderness. If there are any suspicious features then an
excision biopsy should be taken to exclude the extremely rare possibility
of urethral cancer.

Bartholins cysts the bartholin glands lie in the subcutaneous tissue
below the lower third of the labia majora and open via ducts to the
vestibule between the hymen orifice and the labia minora. They secrete
mucous particularly at the time of intercourse. If the duct becomes
blocked then a tense retention cyst forms, and if there is superadded
infection, a painful abscess forms. The abscess can be incised and
drained, usually under GA. To prevent the cyst reforming the fistula is
kept open by suturing its edges to the surrounding skin, a procedure
known as marsupialisation.

Small cysts the commonest small vulva cysts are usually either
inclusion cysts or sebaceous cysts. Inclusion cysts form because
epithelium is trapped in the epidermis, usually following obstetric trauma
or episiotomy. They are usually asymptomatic and need no treatment.
Sebaceous cysts are usually multiple, mobile, non-tender, white or yellow,
filled with a cottage cheese like substance and more common in the
anterior half of the vulva. Excision may be requested by the patient. Cysts
in an episiotomy scar can be tender and need excision. Infected cysts
need to be excised and drained and recurrent infections should be treated
by excision in their non-acute phase.

Moles usually asymptomatic but become more pigmented at puberty.
There is a good case to remove these as 2% of malignant melanomas in
women are vulval in origin.

Fibroma, lipoma and hidradenoma fibromas and lipomas are benign,
mobile tumours of fibrous tissue and fat respectively. Hidradenomas are
rare tumours of sweat glands near the surface of the labia.
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Haematoma the commonest cause is vaginal delivery but can also occur
after any vulval operation or by falling astride accidents, particularly in
children. The possibility of sexual assault should be borne in mind in this
situation. Vulval haematomas usually present with severe pain, and
evacuation under GA is often required.

Simple atrophy elderly women develop vaginal, vulval and clitoral
atrophy as part of the normal aging process. In severe cases the thin
vulval skin, terminal urethra and fourchette causes dysuria and superficial
dyspareunia, the labia minora may fuse and bury the clitoris. Introital
stenosis can make coitus impossible. A simple topical moisturises is
effective but topical oestrogen creams can be used. As a small amount is
absorbed systemically the maximum course length is 2-3 months without
progesterone supplementation to prevent endometrial stimulation.

Ulcers these can be:
aphthous (yellow base)
Herpetic (painful multiple ulcerations)
Syphilitic (indurated and painless)
Associated with Crohns disease (knife like cuts)
Malignant
Tropical

Infection

Candida, vulval warts, herpes, lymphogranuloma venereum, scabies,
granuloma inguinale, tinea, chancroid and syphilis can all have an effect.
Hidradenitis suppurative is a chronic unrelenting infection of the sweat
glands causing them to become obstructed and chronically inflamed. Long
term antibiotics reduce attacks but the only cure is by excision.

Dermatoses

Lichen sclerosus this chronic and recurrent condition can present at any
age but is more common in elderly patients and usually presents with
pruritus. Less commonly there may be dyspareunia or pain. It is an
autoimmune condition associated with pernicious anaemia, thyroid
disease, DM, SLE, primary biliary cirrhosis and bullous pemphigoid.
Clinically the skin appears white, thin and crinkly but may be thickened
and keratotic. There may also be clitoral or labial adhesions. Lichen
sclerosus is non-neoplastic but is associated with vulval intraepithelial
neoplasia and this occurs in 2-5% of cases. If treatment is required then
firstly topical steroid cream is used, reducing gradually to a milder
preparation as symptoms require. An emollient is symptomatically
beneficial.

Page | 602

Squamous cell hyperplasia thickened hyperkeratotic skin with white,
itchy plaques. Pruritus is usually severe. Treatment is as for lichen
sclerosus.

Other Dermatoses

Allergic/irritant dermatosis this is either due to irritation or a true
allergy and can be caused by cosmetics, perfumes, contraceptive
lubricant, sprays and douches. Anything used to clean undergarments can
also cause irritation. Women with contact dermatitis have a red inflamed
vulva with features of eczema. Temporary relief may be gained by using
moisturiser and topical corticosteroids.

Psoriasis this manifests as a dry red papular rash that is usually well
circumscribed and extends to the thigh. The diagnosis is easier to make if
bleeding occurs when the characteristic silvery scales are removed.
Because the vulva is often moist is can be hard to differentiate this from
candida or dermatitis. The lesions should be treated with coal tar
preparations, UV light, steroid creams or other formulations.

Intertrigo with candida this is a moist inflammatory dermatitis which
can occur in any body fold because of apposition and chaffing of skin
surfaces. This is more common in those who are overweight or who wear
occlusive clothing. The skin is sore, macerated and often red, inflamed
and cracked. Weight loss, local hygiene and ventilation should be
encouraged and barrier preparations may be helpful. Candida often
complicates this condition and should be treated as normal. If candida is
not present then steroid cream can be used to treat the inflammation.

Lichen planus a chronic papular rash with a dark blue hue, involving the
vulva and flexor surfaces. It can also affect mucous membranes of the
mouth and other flexor surfaces which help confirm the diagnosis. It is
usually idiopathic and treatment is with potent topical steroids.

Pruritus

This is commoner in those aged over 40 and symptoms are often most
severe under times of stress or depression. There are numerous
aetiologies which include infection, eczema, dermatitis, irritation, lichen
planus, lichen sclerosus, vulval cancer, medical problems and
psychogenic. A biopsy and patch testing may help in determine the
diagnosis. It is important to break the scratch itch cycle and strong short
term topical steroids will reduce the local inflammation. Irritants and bath
water additives should be avoided. Antihistamines may also be helpful
along with wearing lose cotton clothing.

Page | 603

Vulvodynia this is chronic vulval discomfort, especially that
characterised by the complaint of burning, stinging, irritation or rawness.
There may also be pruritus. No one factor has been identified as a specific
cause. It may be associated with previous sexual abuse and can respond
to low-dose TCAs. Vulval vestibulitis is a chronic clinical syndrome with
erythema, severe pain to touch and tenderness to pressure. If symptoms
are of less than 3 months then corticosteroids can be used. If chronic
then treatment is symptomatic. Surgical resection is a last resort.

Vulval intraepithelial neoplasia (VIN) refers to the presence of
neoplastic cells within the vulval epithelium and includes squamous,
melanoma in situ and non-squamous.

Squamous VIN this is classified as grade 1, 2 or 3 and it is considered,
much like CIN, that HPV may be important in the aetiology. Many are
asymptomatic although pruritus may be present. Lesions may be papular
and rough, resembling warts. Lesions tend to me multifocal in women
under 40 and unifocal in women in the postmenopausal age group.
Diagnosis is by biopsy and the cervix should be checked for CIN.
Treatment includes surgical excision, laser therapy and imiquimod cream.

Non-squamous VIN (Pagets disease) in this uncommon condition there
is a poorly demarcated, often multifocal, eczematoid lesions associated in
10% with adenocarcinomas either in the pelvis or at a distant site.
Treatment is by wide local excision and recurrences are common.

Vulval carcinoma

Relatively uncommon and squamous cell carcinoma accounts for 90% of
these. Approximately 5% are malignant melanomas and the others
include Bartholins gland cancer, BCC and sarcomas. It is usually a
disease of older women (60+) and, like cervical cancer, is commoner in
smokers and women who are immunosuppressed.

Clinical presentation usually there is a long history of vulval irritation or
pruritus and some will have has previous lichen sclerosus. A lump or ulcer
is common. As the disease advances the tumour grows and focal necrosis
may cause discharge and pain. The diagnosis is confirmed by biopsy.

Pathophysiology SCC spreads to the inguinal nodes and from there to
the external iliac nodes in the pelvis. Unless the lesion has only
penetrated the basement membrane by <1mm, node involvement is
common and may include both the superficial and deep inguinal lymph
node systems. Clitoral lesions have extensive lymphatic drainage and cells
may embolise along the inferior vesical vessels and drain directly to the
internal iliac nodes.

Page | 604

Surgical management treatment is with some form of surgical excision,
either a wide local excision or vulvectomy. The decision on whether to
remove lymph nodes depends on grade and depth. The commonest
complication of radical vulvectomy is breakdown of the wound which may
take weeks to heal. In addition these women are often elderly, immobile
and have had surgery on their vessels close to the femoral vein, leaving
them at high risk of VTE. Long term sequelae of surgery include vulval
mutilation and lymphoedema. The 5 year survival is around 80% if groin
nodes are negative and 40% if positive.

Recurrence an excised tumour at the primary side is unlikely to return
providing a 10mm margin has been achieved. The epithelium is unlikely
to be stable so new tumours may arise. Treatment of recurrence is
surgical, although interstitial radiotherapy may be appropriate.

Chapter 24 Cervical neoplasia

Cervical cancer is the most common cancer amongst women in many
developing countries and worldwide there are over 450,000 cases each
year. About 3000 cases are diagnosed each year in the UK and 1300 of
these women will die from this disease. Fortunately cervical cancer has a
premalignant phase and many of the criteria for a suitable screening
programme are fulfilled. Both the incidence and mortality have fallen
considerably since the introduction of this screening programme.

Cervical intraepithelial and cervical cancer screening

Transformation zone cervical intraepithelial neoplasia (CIN) develops in
the transformation zone of the cervix. The endocervix is lined by
columnar epithelium and the ectocervix by squamous epithelium. Under
the influence of oestrogen, part of the endocervix everts, thereby
exposing part of the columnar epithelium to the chemical environment of
the vagina. The change in pH, along with other factors, causes the
delicate columnar epithelium to transform into squamous epithelium
through the process of metaplasia. CIN develops in this transformation
zone and hence this is where cytology is taken from in screening. Cellular
abnormalities are classified into different degrees of dyskaryosis.
Although dyskaryosis is a cytological diagnosis, the degree of dyskaryosis
correlates to some degree with the degree of CIN which is a histological
diagnosis. Cervical smears can also identify candidal, trichomonal or wart
virus infection. The precise rate of progression and spontaneous
resolution of the disease are unknown. Roughly a third of lesions will
progress to the next stage (CIN 1 to CIN 2 etc), a third will remain
unchanged and a third will regress. The duration of progression to
Page | 605

invasive carcinoma is variable. But the average is perhaps around 10
years.

Screening England current recommends screening from the age of 25
until 65. It is three yearly between the ages of 25 and 49 and then every
five years between 50 and 64.

Colposcopy significant dyskaryosis on a smear is an indication for
further assessment with colposcopy. Although moderate and severe
dyskaryosis are absolute indications, there is more controversy about
whether to examine mild dyskaryosis. With mild dyskaryosis the smear
may be repeated before considering colposcopy. The patient is placed in
the lithotomy position and a bivalve speculum is then inserted to allow
visualisation of the cervix. It is important to identify the squamocolumnar
junction (SCJ). Abnormal epithelium, such as CIN, contains an increased
amount of protein and lower levels of glycogen than normal epithelium. If
acetic acid is applied to the cervix then the protein coagulates and the
abnormal cells appear aceto-white. There may also be a mosaic pattern
with patches of aceto-white separated by areas of red vessels. The inter-
vessel distance increases with more severe lesions and bizarre branching
with coarse punctuations and atypical vessels suggests invasive disease.
Lugols iodine stains glycogen mahogany brown and the abnormal cells
will take up less stain so can be viewed in this way.

Treatment of CIN

High grade CIN (2 or 3) requires treatment. With CIN 1 there is more
controversy and generally a period of cytological surveillance will be
employed as many of these lesions will resolve spontaneously. If high
grade CIN is suspected colposcopically, the options are to treat
immediately using an excisional method or to biopsy to confirm high
grade CIN and treat thereafter. The cervix is infiltrated directly with local
anaesthetic and a loop diathermy excision or some other form of excision
is performed. The alternative of ablating the area has the disadvantage
that the histological assessment is less complete. As smoking is an
aetiological factor, its cessation should be discussed with the patient.

Method Summary Pros Cons
Loop excision Wire loop with high
frequency current
Easy outpatient,
tissue available
Cervical incompetence
and stenosis
sometimes
Radical
electrodiathermy
Cervical cautery Easy outpatient No tissue and
unknown depth
Cryotherapy Freezing cervix with
nitrogen
Easy outpatient No tissue and
unknown depth
Laser vaporisation Destruction with CO
2

laser
Easy outpatient,
known depth of
No tissue
Page | 606

destruction
Cold coagulation Heating to 100
o
C Easy outpatient No tissue and
unknown depth
Cone biopsy Surgical excision Large specimen for
pathology
Cervical stenosis,
incompetence and
need for GA

Follow up

Any woman with CIN, treated or not, continued to be at risk of developing
cancer. Follow up is therefore important and this is usually carried out by
repeat smears. Following treatment it is reasonable to have a smear after
6 months and then annually for 5-10 years before returning to the
national screening programme if the smears remain negative.

Cervical cancer

Aetiological factor

Sexual behaviour cervical cancer is usually a disease of sexually active
women and has been linked to HPV. Women with cervical cancer are likely
to have had more sexual partners and to have started intercourse earlier,
and are less likely to have used barrier methods of contraception. The
disease is more frequent in parous women.

Human papillomavirus a strong association is observed between HPV
serotypes 16 and 18, pre-invasive disease and invasive cervical cancer. It
is thought that these affect the p53 responsible in DNA repair. HPV is
present in around a third of all women in their 20s in the UK.

COCP prolonged use increases risk up to fourfold but only in women
who carry HPV. It can be argued that this is due to a difference in sexual
behaviour rather than the pill itself.

Smoking this increases the risk, probably due to a weakened immune
system and carcinogenesis.

Future prevention

There are currently two different vaccines for HPV which are Cevarex and
Gardasil. For these to be most effective a girl needs to be inoculated
before she becomes sexually active so routinely this is at the age of 12-
13.

Presentation

Page | 607

Patients with cervical cancer may present with postcoital bleeding,
intermenstrual bleeding, menorrhagia or an offensive vaginal discharge.
In early cases there may be no symptoms but it is picked up during
screening. Other symptoms such as backache, referred leg pain, leg
oedema, haematuria or alteration in bowel habits are usually associated
with advanced disease. General malaise, weight loss and anaemia are
also late features. There are three categories of clinical appearance:
The most common is an exophytic lesion which arises on the
ectocervix and produces a large friable polypoid mass which bleeds
easily
An infiltrating tumour that shows little ulceration but produces a
hard indurated cervix
An ulcerative tumour which erodes a portion of the cervix and
vaginal vault.

Pathology the majority of cervical cancers are squamous. Around 10-
25% are adenocarcinomas.

Spread

Cervical cancer spreads by direct extension into adjacent structures and
via the lymphatics. Blood-borne metastasis is rare. Direct invasion beyond
the cervix is usually into the upper vagina, parametrium and pelvic
sidewall and this tumour may lead to ureteric obstruction. There may also
be invasion of the bladder and rectum.

Staging, investigation and prognostic factors

Cervical cancer is staged by clinical examination and confirmed by biopsy.
The assessment should include a rectovaginal examination to assess
parametrial involvement. Although in developed countries a greater
proportion of cases present with stage 1 disease, in worldwide terms with
majority (>75%) of women with cervical cancer present with advanced
stage (3/4) disease The prognosis of early disease is relatively good (up
to 95%) but advanced disease has a survival or 15-40%.

Management

Stage 1A cured by simple excision to preserve fertility or with
aggressive radiotherapy or radical surgery.

Stage 1B-2A treated with radical hysterectomy or radical radiotherapy.

Stage 2B-4 radical radiotherapy in combination with cisplatin
chemotherapy

Recurrent disease
Page | 608

Those with recurrent have a 1 year survival of 10-15% and most
recurrences are suitable for palliative care only. If not already treated
with radiotherapy then this is an option but most patients will have
previously had this. Chemotherapy can also be used but is more useful ot
reducing symptoms than curing disease.

Chapter 25 Gestation trophoblastic disease

GTD is a term used to describe a number of conditions characterised by
an abnormal proliferation of trophoblastic tissue. There are premalignant
and malignant forms: the premalignant form is subdivided into partial and
complete hydatidiform moles, and the malignant form into invasive
moles, choriocarcinoma, and placental site trophoblastic tumours. GTD
has a number of differences from other forms of malignancy in its
aetiology, genetic make-up, pathophysiology and responsiveness to
treatment. Fortunately the malignant forms of the disease are extremely
sensitive to chemotherapy, and treatment routinely results in cure, even
in patients with widespread disease.

Even molar pregnancy, which is the most common form of GTD, is a
relatively rare condition with around 1-3 cases per 1000 births. The
incidence is higher at the extremes of reproductive age, at approximately
1 in 30 in those aged under 15 and as high as 1 in 5 in those in their late
40s. However only a small proportion of women at this age range become
pregnant so 90% of cases occur in women aged 18-40.

Trophoblast cells in health and disease

In a healthy pregnancy the trophoblast cells make up a key component of
the placental tissue. Their role is to promote invasion of the conceptus
into the lining of the uterus, invade into the uterine blood vessels,
promote angiogenesis and produce human chorionic gonadotrophin
(hCG). The malignant forms of GTD, both molar pregnancies and
malignant transformation of cells, share many of these characteristics. In
addition to the abilities to invade into the lining of the uterus and
stimulate new blood vessels, malignant cells are also able to spread to
other organs of the body and grow at a very fast rate without any limit on
their division. Fortunately the production of hCG is always retained and
this is extremely useful in establishing a diagnosis and in monitoring the
response to treatment.

Premalignant GTD

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This is divided into partial and complete molar pregnancies. A
hydatidiform mole appears as a shapeless watery vesicle when evacuated
after the first trimester.

Partial hydatidiform mole molar pregnancies occur as the result of an
error in either the production of the oocyte or at the time of fertilisation.
Normally fertilisation combines a 23,X set of haploid chromosomes from
the ovum with either a 23,X or 23,Y haploid set from the sperm, the
result being a diploid 46,XX or 46,XY zygote which has the correct
balance of maternal and paternal genes. In a partial molar pregnancy
there are 69 chromosomes, 23 from the mother and the other 46
paternally derived, usually from the entry of two separate sperm into the
ovum. In a molar pregnancy there is usually an embryo which can be
seen on early ultrasound. Although structurally abnormal, there may be
no obvious ultrasound features of this in the early first trimester and the
diagnosis may therefore not become apparent until histological tissue
examination is carried out after a failed pregnancy. The features are of
focal hyperplasia and swelling of the villi, though many areas do not have
these obvious changes and distinguishing a partial mole from a hydropic
miscarriage can be difficult. Fortunately the risk of miscarriage after a
partial molar pregnancy is less than 1% and few patients require
chemotherapy.

Complete hydatidiform mole in contrast to partial molar pregnancies, a
complete molar pregnancy has the correct number of chromosomes, with
the majority having a 46,XX karyotype. In complete molar pregnancies
however, all the nuclear genetic material is from the father and they are
therefore termed androgenetic in origin. This can occur by two
mechanisms:
The maternal 23,X haploid set of chromosomes in the ovum may be
lost at the time of fertilisation and the 23,X haploid paternal
chromosomes from the fertilising sperm may duplicate themselves
giving rise to a 46,XX cell
Alternatively an empty ovum may be fertilise by two separate
sperm which gives a paternal derived karyotype

In a complete molar pregnancy there is never any fetal material, and the
placental tissue has marked hyperplasia and gross vesicular swelling of
the villi. The classic macroscopic bunch of small grapes appearance of a
complete molar pregnancy generally occurs only in the second trimester.
In areas without ultrasound the presentation may be large for dates or
with hyperemesis or thyrotoxicosis. Approximately 10-15% will become
malignant after their removal and will need chemotherapy.

Malignant GTD

Page | 610

Invasive mole this is rare but occurs when the molar tissue invades
predominantly into the myometrium. The clinical presentation is with a
uterine mass and an elevated hCG level. As a result of myometrial
invasion, the tumour can lead to uterine rupture and present with
abdominal pain and bleeding. Histologically, invasive mole has a similar
appearance to a complete molar pregnancy and usually responds well to
chemotherapy.

Choriocarcinoma this is a highly malignant tumour arising from
malignant transformation of the trophoblast cells, and histologically is
characterised by haemorrhage, necrosis and intravascular growth. It lacks
the normal villous structure of the normal trophoblast or molar
pregnancy. This disease is very rare with approximately 1 case per
50,000 live births. This may become apparent straight after pregnancy or
can present after an interval of up to 20 years. Presentation is usually
with persistent vaginal bleeding and a markedly raised hCG (the serum
hCG level, which is usually less than 100,000IU/l at the time of delivery,
should fall to normal within 3 weeks postpartum). Diagnosis can also
follow presentation of a metastasis in:
The lung haemoptysis or dyspnoea
The brain neurological abnormalities
The GI tract chronic blood loss or melaena
The liver jaundice
The kidney haematuria

The finding of an elevated hCG level in a woman with cancer is highly
suggestive of a choriocarcinoma. In contrast to molar pregnancies, there
do not appear to be any risk factors or high-risk groups for developing
this condition.

Placental site trophoblastic tumour (PSTT) this is the least frequent of
gestation tumours, with approximately 1 case for every 200,000 births. In
contrast to a choriocarcinoma, PSTT is believed to arise from the
intermediate trophoblastic cells, which have a lower capacity to invade
and also make relatively less hCG than the syncytiotrophoblast cells that
give rise to choriocarcinoma. The presentation is similar to that of
choriocarcinoma, though it only occurs after the delivery of a female
infant and is more likely to be associated with hCG induced amenorrhoea.
It usually presents later than choriocarcinoma, tends to grow slower and
is less chemosensitive.

Management of molar pregnancies

Following an ultrasound scan to confirm this diagnosis a uterine
evacuation should be arranged. In a complete molar pregnancy, where
there are no fetal parts, the evacuation should be performed by a suction
procedure. The risk of bleeding and perforation are significant. Medical
Page | 611

evacuation may be appropriate for a partial mole, particularly if larger
fetal parts are present, but this should be followed by a surgical
evacuation of any retain products of conception. Oxytocin should be
avoided until after uterine evacuation to minimise the risk of distant
spread by uterine contractions. Following evacuation the diagnosis is
confirmed on histological examination.

Follow up

There is a 10% chance of persistent disease and the development of
malignancy after a complete molar pregnancy. In contrast there is only a
1% chance with a partial molar pregnancy. There is no good way of
predicting this group but monitoring hCG levels after evacuation allows
this group to be identified. In the UK a molar pregnancy is registered with
a specialist centre that is responsible for follow up. This has lead to
extremely high cure rate. Usually the hCG level will fall to normal within 2
months and relapse after this is rare. Current advice is to follow up for 6
months and to avoid getting pregnant in this time as the hCG will be
masked. There is also advice to avoid the contraceptive pill and use
barrier methods of contraception. For a woman with one molar pregnancy
the future risk is 1:75 but with two molar pregnancies the risk if 1:10.

Management of malignant GTD

Following evacuation of a molar pregnancy there are a number of
indications for further treatment which include:
Brain, liver or GU metastasis
Histological evidence of choriocarcinoma
Heavy vaginal bleeding
Pulmonary, vaginal or vulva metastasis
Rising hCG in two consecutive samples
hCG >20,000 IU/l more than 4 weeks after evacuation
hCG plateau in three consecutive samples
Raised hCG level 6 months after evacuation (even if falling)

The most frequent of these is a rise or a plateau in the hCG levels. The
majority of patients are treated with chemotherapy which has a high cure
rate and is generally well tolerated. A few women who have completed
their families and have no evidence of spread may opt instead for a
hysterectomy. In contrast, all patients with choriocarcinoma occurring
after pregnancy require chemotherapy with surgery rarely being used. As
this tumour is so sensitive to chemotherapy they can often be treated
with a low-toxicity single agent i.e. methotrexate. This is well tolerated,
has minimal side effects, does not cause hair loss or significant sickness
and there is minimal risk of neutropenia. Overall cure rate is 99% or 90%
in those who develop choriocarcinoma after a normal pregnancy (require
Page | 612

stronger chemotherapy). The majority of patients who are difficult to cure
will have had a long interval from their causative pregnancy.

After chemotherapy most patients rapidly recover and fertility is almost
always retained. An interval of 12 months from the completion of
chemotherapy to the next pregnancy is recommended.

OBSTETRICS

Chapter 26 The physiology of pregnancy

Respiratory oxygen consumption increases 15-20%. This is partially
maternal to satisfy the increase in cardiac output, renal function and
other metabolic requirements (including respiratory function, breast
development and uterine development). Around 40% of this increased
requirement is for the fetoplacental unit. To supply this the mother
hyperventilates by increasing her minute volume by about 40% above the
normal 7L/min. This increase is far greater than the required amount and
hence produces a safety net.

Tidal volume is primarily increased rather than respiratory rate as this is
more efficient with less dead space movement. Maternal CO
2
falls,
favouring CO
2
transfer from the fetus to the mother. These changes are
thought to be mediated by progesterone.

Dyspnoea is a common symptom in pregnancy and is generally perceptual
rather than a reflection of inadequate gas exchange, and is often worse at
rest. In late pregnancy the gravid uterus may restrict the diaphragm and
exacerbate these feelings.

Cardiovascular In pregnancy there is an increase in cardiac output and
a decrease in peripheral vascular resistance. Cardiac output rises about
40% from around 3.5L/min to 6L/min, from an increase in both stroke
volume and cardiac rate. As with the respiratory changes these are
disproportionate to what is required. The fall in vascular resistance is not
quite compensated for by the increased cardiac output and hence there is
a slight fall in blood pressure during the second trimester, sometimes as
much as 5 mmHg systolic and 10 mmHg diastolic. The blood pressure can
rise again in the third trimester and it can be difficult to differentiate this
from the start of pre-eclampsia.

This high blood flow maximises PO
2
on the maternal side of the placenta
and maximised O
2
transfer to the fetal circulation. The vasodilation also
aids with heat loss that helps with the increased metabolic rate of
Page | 613

pregnancy. Peripheral vasodilation may be a factor in palmar erythema
and spider naevi of pregnancy.

The cardiac output can rise a further 2L/min in established labour,
potentially due to uterine contractions dispelling blood from the uterus
and increasing venous return. Following labour cardiac output reduces to
15-25% above normal and gradually returns to the pre-pregnancy state
over the next 6 weeks.

Late in pregnancy the mass of the uterus is likely to press on and partially
occlude the inferior vena cava which can lead to a reduced cardiac output
and hypotension. Therefore women are supported on a left lateral tilt
during labour or in emergency situations.

Blood, plasma and extracellular fluid volume On average the total red
cell mass increases steadily throughout the pregnancy by 25%, from
around 1300ml to 1700ml. The circulating plasma volume increases by
around 40% from 2600ml to 3700ml. Because the plasma volume
increases proportionately more than the red cell mass there is a
haemodilution such that a haemoglobin of 10.5g/L would be normal in
healthy pregnancy.

Plasma colloid osmotic pressure falls in pregnancy and, as a result, fluid
shifts into the extravascular compartment, causing oedema. Not only do
all pregnant women have some dependent oedema, but so also do non-
pregnant women in the postovulatory phase of the cycle.

Blood constituents and anaemia

Non-pregnant Pregnant
Haemoglobin (g/dl) 12-14 10-12
Red cell count (x10
12
/l) 4.2 3.7
Haematocrit (venous) 40% 34%
MCV 75-99 80-103
MCH 27-31 No change
MCHC 32-36 No change
WBC (x10
9
/l) 4-11 9-15
Platelets (x10
9
/l) 140-440 100-440
ESR (mm/h) <10 30-100

Iron requirements are increased to meet the requirements of the larger
red cell mass, developing fetus and the placenta. Therefore the serum
ferritin level falls. The fetus gains iron from maternal serum by active
transport across the placenta, mostly in weeks 36-40. This can be
minimised by supplementation of iron although studies have not shown
this to improve adverse outcomes. Mortality does not rise until Hb levels
Page | 614

fall below 7g/dl. WHO recommends iron levels be supplemented if below
10.5g/dl in pregnancy.

Folate metabolism this requirement rises from 50mg to 400mg per day
so daily supplementation before conception is recommended to reduce
the risk of neural tube defects.

Haemostasis pregnancy is a hypercoagulable state with an increase in
procoagulants (particularly fibrinogen but also platelets, factor 8 and
vWF) and a reduction in naturally occurring anticoagulants (e.g.
antithrombin 3). Fibrinolysis is also increased, so there is an increased net
turnover of coagulation factors. Fibrinolytic activity returns to normal
within 1 hour of placental delivery. This is thought to be an evolutionary
advantage to stem excess blood loss at birth. Platelets on the other hand
are not affected (although aggregate slightly more readily).

Renal system renal blood flow and GFR increase by about 60% from
early in the first trimester to around 4 weeks postpartum. This causes a
fall in plasma creatinine (73 to 47 mmol/l) and urea from 4.3 to 3.1
mmol/l). This should be considered when reviewing results. The increased
GFR is not matched by increased tubular reabsorption but fortunately
sodium is not lost due to a compensatory increase in aldosterone.
Glucosuria is common because the filtered load of glucose is greater than
tubular absorption capacity but this can also be pathological.

Dilation of the renal pelvis and ureters is caused by both progesterone
and local obstruction by the gravid uterus. It occurs early in the first
trimester and results in urinary stasis which increases the likelihood of
urinary tract infection. This may be further exacerbated by the presence
of glucosuria.

Thyroid there is increased iodine uptake activity and the total serum
levels of T
3
and T
4
are also raised. Only the unbound portion of thyroxine
is metabolically active however, and as oestrogens also induce synthesis
of thyroid-binding globulin, the levels of free T
3
and T
4
remain within the
normal range or may even fall slightly.

Pituitary function oestrogen stimulates the release of prolactin which in
turn stimulates breast growth antenatally but lactation is inhibited by
progesterone until after delivery of the placenta. The prolactin level is
around 10 times normal and hence the pituitary increases in size by
135%.

GI system there is a general reduction in gut motility and a slowing of
transit times. This can benefit the fetus by increasing absorption time of
certain nutrients. Delayed gastric emptying and gastric relaxation are
features of pregnancy and are particularly marked in labour. This
Page | 615

becomes clinically relevant if a general anaesthesia is needed as they are
at increased risk of aspiration and hence acid-reduction medication is
given to elective c-section patients.

Nausea and vomiting are common in early pregnancy. Most pregnant
women also report increased appetite and thirst and can have cravings or
aversions to certain foods. Gastric acid secretion is reduced in pregnancy
and hence sometimes gastric ulcers will improve. Reflux oesophagitis
however may worsen from a combination of reduced lower sphincter tone
and increased intra-abdominal pressure.

Many women report constipation in pregnancy and this is attributed to the
relaxing effect of progesterone on gut smooth muscle. However there is
little good evidence that constipation is more common in pregnancy. It
should be managed with dietary fibre and stool bulking agents.

Liver and bile ducts pregnancy is a mildly cholestatic state. Liver tests
however are in the normal range with the exception of alkaline
phosphatase which is roughly double due to placental secretion rather
than from the liver. Oestrogen increases the serum cholesterol and this is
translated into bile salt production which supersaturates the bile. Since
progesterone reduces gall bladder emptying, pregnancy predisposes to
gall stones.

Skin and appendages Increased pigmentation is seen in the nipples and
in the midline of the abdomen (linea nigra), as a result of placental
melanocyte-stimulating hormone production. Striae gravidarum (stretch
marks) occur in the presence of high oestrogen levels and in skin subject
to stretching such as over the breasts and abdomen. It is initially
red/purple but fades after delivery to a faint silvery colour. The cycle of
hair growth also changes so that most hairs are in their growth state.
After birth there can be too many over aged hairs so hair can fall out in
clumps.

Metabolic changes extra energy is obviously required, not only for the
developing fetus but also to fuel the increase in maternal physiological
parameters. The resting metabolic rate is increased around 20% and
weight increases on average by around 12kg (only about 3kg is maternal
stores, 3kg is bloods and fluids and 6kg is uterine contents and uterus).
Initially there is an increased sensitivity to insulin which leads to
increased glycogen synthesis, increased fat deposition and an increase of
amino acid transfer into cells. After mid pregnancy there is a degree of
insulin resistance. At this stage the serum glucose level may rise and this
aids the fetus. The insulin resistance also leads to an increase in serum
lipids which can be used as a maternal energy source instead of glucose.
Maternal amino acids will also fall but there is an increased transfer
across the placenta.
Page | 616

Pregnancy is a diabetogenic state. Cortisol, progesterone, oestrogen and
the placenta are all insulin antagonists and tend to increase glucose
levels. If the pancreas is unable to produce enough insulin or if the cells
are resistant to it then maternal glucose levels may rise pathologically.

Immunology most human cells have a gene on chromosome 6 that
codes for HLA proteins. Each person has their unique HLA protein that
codes cells as self and not for destruction. Fortunately the placenta does
not exhibit this type of differentiation and does not allow HLA proteins to
pass through in large number, hence protecting the fetus from immune
rejection.

Chapter 27 Strategies to Improve Global Maternal and Neonatal Health

There are five main obstetric causes of direct maternal mortality which
are haemorrhage, obstructed labour, sepsis, eclampsia and unsafe
abortion. The leading killer in the developed world is a sixth category:
maternal medical problems.

Haemorrhage this is the most common cause of deaths in resource poor
areas. This may be because of antepartum bleeding (abruption of
placenta), bleeding during delivery (ruptured uterus) or postpartum
(atonic uterus or retained placenta). The risk of dying is higher in those
women who are already anaemic. Oxytocics are effective in preventing
postpartum haemorrhage as well as in treating uterine atony, but such
oxytocics may not be routinely used (not available). Vaginal and surgical
tears can be surgically repaired if materials, instruments and skilled staff
are available. The ability to give IV fluids, safe blood transfusion and
anaesthesia is extremely important when pregnancy/delivery is
complicated by haemorrhage.

Obstructed labour the most common cause of this is true cephalopelvic
disproportion, though malpresentation is also important. Sometimes the
labour is not directly obstructed but there is failure of uterine
contractions. In those with a longitudinal lie, timely intervention with
oxytocic therapy can improve contractions and allow vaginal delivery.
With late presentation the presenting part may be deeply impacted in the
pelvis and an examination may demonstrate gross fetal caput and
moulding. This is particularly associated with the mother being short,
malnourished, pyrexial, dehydrated and exhausted. The mother may be in
extreme pain from a tonically contracted uterus. Management depends on
the state of the fetus and if alive then a c-section is needed. If dead then
craniotomy and other destructive processes may be used.

Page | 617

With long term impaction pressure necrosis can result on the genital tract
walls leading to fistulae formation. These women who are at risk should
be treated with continuous bladder drainage and antibiotic therapy. These
should heal in 6-8 weeks but may require surgical management.

Sepsis bacterial infection often follows prolonged rupture of the
membranes or with retained products of conception which can lead to
overwhelming septic shock, multisystem failure and death. Early antibiotic
treatment is essential. If there are retained products of conception then
manual vacuum aspiration can be life saving. Unrecognised rupture of
membranes in pregnancy risks ascending infection and this can lead to
chorioamnionitis, premature delivery and major systemic sepsis.
Prophylactic antibiotics should hence always be given after prolonged
rupture or with caesarean section.

Untreated STIs are common during pregnancy in resource poor countries
and may contribute to sepsis. This may be exacerbated by suppression of
the immune system by HIV.

Eclampsia this can lead to death, especially if the fit is prolonged. As the
hypertensive disorders of pregnancy affect many systems the exact cause
of death is difficult to pinpoint. Cerebral haemorrhage is probably the
most common but renal or hepatic failure, respiratory failure or
coagulopathy may also contribute. Recognition of pre-eclampsia by
measuring BP and assessing urine for protein should be available to all
women. Magnesium sulphate can be used to reduce the incidence of
seizures. The only real treatment for eclampsia is delivery whilst providing
adequate blood pressure control and extensive monitoring.

Unsafe abortion abortion is illegal in many countries and hence can be
carried out by unskilled practitioners in dirty conditions. Death may be
due to uterine perforation, sepsis and haemorrhage. Unsafe abortions are
strongly linked to the non-availability of contraception.

Medical conditions contributing to maternal mortality and morbidity

Anaemia it is thought that over half the pregnant women in the world
have a haemoglobin level indicative of anaemia. This is usually chronic so
the mother is asymptomatic at rest but can quickly decompensate in
labour and, in the event of haemorrhage, is much more likely to die.

Malaria causes death directly or by maternal anaemia. Symptoms of
fever in a malaria prone area should be treated as if it were malaria.

HIV/AIDS There is a whole host of issues here that are largely discussed
in the paediatric guide. These involve minimising viral load with ARV drug
therapy, avoiding breast feeding where possible and delivery by c-section.
Page | 618

Chapter 28 Antenatal Care

The antenatal schedule of visits varies with the initial booking visit
ideally occurring at around 8 to 10 weeks. Subsequent visits are offered 4
weekly until 30 weeks then another visit at 32 weeks followed by weekly
visits until birth.

The booking visit the purpose of this visit is to detect any risk factors
that may indicate the necessity of extra surveillance above that provided
to low-risk women. It is also an opportunity to identify any social
difficulties and to discuss the parents own wishes for the pregnancy and
delivery. It should include:
Past obstetric history detailed account of previous pregnancies
and labours including gestational age at delivery, if labour was
spontaneous or induced etc. The duration of labour, mode of
delivery, birth weight, sex, neonatal outcome and any postnatal
complications should also be noted.
Medical and surgical history previous operations (particularly
gynaecological problems such as previous cone biopsy than may
predispose to cervical incompetence) and include a history of
whether blood transfusions have been received. Questions should
be asked about relevant medical disorders such as hypertension,
diabetes, heart disease, renal disease, epilepsy, asthma or
abnormal thyroid function
Family history enquire about potentially inherited conditions such
as thalassaemia, cystic fibrosis and sickle cell anaemia.
History of present pregnancy date of the first day of the last
menstrual period and details of the menstrual cycle prior to
conception should be noted. Correlation with early pregnancy
ultrasound dating is important
Social and drug history note all drugs and medications taken.
Alcohol, smoking and drug misuse should also be noted with referral
to appropriate services. Evidence of socioeconomic deprivation as
well as the potential for child protection needs referring to the social
work department
Examination a general examination should include pulse rate, BP,
baseline weight and height (BMI>30 indicates increased risk of
complications). Abdominal examination provides an approximate
indication of the uterine size and may identify abnormal masses and
other abnormalities. There is no indication for a VE but it is sensible
to perform cervical cytology if overdue.
Ultrasound establishes fetal viability, gestational age and
identifies/excludes multiple pregnancies. It may also be an
opportunity to measure nuchal translucency and to diagnose gross
abnormalities.
Page | 619

Urine analysis checked for protein and glucose

Booking blood samples:
FBC to exclude maternal anaemia and thrombocytopenia
Blood group to determine ABO and rhesus status and to detect
the presence of any other red cell antibodies
Rubella status to identify at risk mothers who can be immunised
after delivery
Haemoglobin electrophoresis used to identify those mothers who
may be at carriers of sickle cell anaemia or thalassaemia
Hepatitis B allows for counselling and neonatal vaccination
Syphilis serology refer to GU medicine and treat with penicillin
HIV

Antenatal planning
- Mothers at the extremes of reproductive age are at increased risk of
obstetric complications, particularly hypertensive disorders, and they also
carry an increased risk of perinatal mortality.
-The incidence of proteinuric pre-eclampsia in a second pregnancy is 10-
15 times greater if there was re-eclampsia in the first pregnancy
compared to those with a normal first pregnancy, although it tends to be
less severe.
- Those who have had a previous instrumental delivery usually have a
straight forward delivery the second time around but may request an
elective c-section which needs careful consideration.
- Those who had a previous c-section for a non-recurrent indication (i.e.
breech, fetal distress etc) should be offered vaginal birth after caesarean
(VBAC) but occasionally a c-section is needed.
- Smoking is associated with low birth weight infants, probably due to
fetal hypoxia and ischaemia from the CO and nicotine. Long term follow
up has demonstrated intellectual and emotional impairment as well as an
increased risk of placental abruption, pre-term labour and SIDS.
- Work, as long as it is not in a hazardous environment, is ok to continue
with and moderate exercise is also recommended unless there are
significant complications i.e. hypertension.

Antenatal surveillance Subsequent visits are then used to identify
obstetric complications.

Gestational hypertension and pre-eclampsia blood pressure and
urinalysis should be checked at every visit, and there should be a low
threshold for acting on any abnormality.

Fetal growth restriction and small for gestational age SGA describes a
baby whose birth weight is below the centile for a specific gestation, most
commonly the 10
th
centile. The term FGR describes a fetus which fails to
reach its genetic growth potential. In practice it is difficult to differentiate
Page | 620

the two clinically but FGR carries significant risk of antenatal and
intrapartum asphyxia, intrauterine death, neonatal hypoglycaemia, long
term neurological impairment and perinatal death. Screening for babies
is by clinical palpation and objective measurement of symphysis fundal
height with a tape measure. Ultrasound can also be used to measure this
but it is not done routinely for normal pregnancy.

Impaired glucose tolerance and diabetes some centres offer a glucose
tolerance test for women who fulfil certain criteria such as a family history
of diabetes, previous large for gestational age babies or persistent
glucosuria. Others do random glucose tests to these women whilst other
centres test everyone.

Haemolytic disease Maternal IgG antibodies to fetal red cell antigens
cross the placenta and may lead to fetal haemolysis, anaemia and
hydrops fetalis. Initial sensitisation usually occurs at a previous birth but
can also occur at any stage including vaginal bleeding or amniocentesis.
Rhesus antigen is the most significant so all women are screened at
booking and again in the 3
rd
trimester. Rhesus negative women without
sensitisation are recommended to received anti-D at 28 and 34 weeks.

Breech presentation the incidence declines with gestational age. At 20
weeks it is 40%, at 32 weeks it is 25% and it is 3% at term with
spontaneous version after 28 weeks only being less than 4%. It is
associated with multiple pregnancies, bicornuate uterus, fibroids, placenta
praevia, polyhydramnios and oligohydramnios. A planned c-section is
associated with a lower neonatal mortality. Breech can be suspected on
abdominal palpation and confirmed by ultrasound.

Anaemia as pregnancy advances there is a physiological fall in Hb. Iron
supplements may add to GI side effects so are only recommended with
iron levels below 10.5g/dl, or if the MCV is <80fl. Oral iron is well
absorbed.

Polyhydramnios in the 2
nd
and 3
rd
trimesters liquor is produced by the
fetal kidneys and is swallowed by the fetus. Excess fluid is suspected if
the uterus feels tight, fetal parts are hard to palpate and if the symphysis
fundal height is above the 90
th
centile for gestational age. Polyhydramnios
is diagnosed by ultrasound and is associated with maternal diabetes
(20%) and congenital fetal abnormalities (5% - see paediatric notes).
Only rarely is it necessary to aspirate liquor and this is quickly replaced.
Increased surveillance and awareness is needed. A paediatrician should
examine the child for abnormalities.

Prolonged Pregnancy >42 weeks

Page | 621

This is defined as pregnancy beyond 42 weeks gestation and occurs in
10% of pregnancies. It is associated with increased perinatal mortality
due to unexplained intrauterine death, intrapartum hypoxia and
meconium aspiration syndrome. Pregnancies over 40 weeks are routinely
monitored with ultrasound or cardiotocography (CTG).

Sweeping membranes this involves performing a vaginal examination
and inserting a finger through the internal os to separate the membranes
from the uterine wall, thus releasing endogenous prostaglandins. It can
be uncomfortable but it increases the incidence of spontaneous labour.

Induction of labour after 41 weeks this reduces the incidence of fetal
distress and meconium staining compared with pregnancies managed
conservatively with monitoring; there is also a reduction in the c-section
rate.

Antenatal assessment of fetal well-being

Fetal movement counting this is used as a screening test for further
investigations. The women is asked to choose a starting time (e.g. 9am)
and record how long it takes to feel 10 separate movements. If there
have been less than 10 movements by 5pm she is asked to contact the
hospital for further tests. There is great variation in what is considered
normal and a change in the usual movements may be more important
than absolute numbers.

Fetal cardiotocography (CTG) this gives an indication of fetal well-being
at a particular moment but have little long-term predictive value. The
routine use of antenatal CTG in low-risk pregnancies is not associated
with an improved perinatal outcome.

Fetal biophysical profile (BPP) in the standard score five parameters are
assessed, each scored out of 2, and the total out of 10. Areas include
CTG, fetal breathing, movements, tone and liquor. Of all these liquor is
probably the most predictive of fetal well-being. A major disadvantage of
the BPP is that it is time consuming and can take up to 30 minutes. Most
babies with abnormal BPP scores also have abnormal umbilical artery
Doppler flow.

Doppler flow velocity studies ultrasound studies of the umbilical arteries
is used as an assessment of downstream placental vascular resistance. It
semi-quantitatively assesses blood flow, and reduced blood flow in fetal
diastole correlates with fetal compromise. In severe compromise diastolic
flow may stop altogether or may even reverse. This probably has no use
in low-risk pregnancy as a screening tool. This examination is useful in
pregnancies considered at risk of hypoxia due to impaired placental
function. In particular a normal waveform would suggest that a small for
Page | 622

gestational age fetus was constitutionally small rather than growth
restricted. Abnormal waveforms are associated with an increased risk of
structural and chromosomal abnormalities.

Common antenatal problems

Backache this occurs as ligaments relax and a support brace, firm
mattress and flat shoes may be of help. Symptoms are nerve involvement
require extra examination.

Pelvic girdle pain (PGP) this is pregnancy associated pain, instability and
dysfunction of the symphysis pubis joint caused by asymmetrical
movement of the pelvic bones. It is common and affects around 14-22%
of pregnant women. Referral to a physiotherapist along with advice on
pain relief and positioning should be given.

Carpel tunnel syndrome oedema in the hands is common in pregnancy
and can lead to compression of the median nerve. Treatment is with rest
with the arm elevated, the use of splints, application of ice, therapeutic
ultrasound, a local hydrocortisone injection or, in severe cases, surgical
division of the retinaculum

Constipation this is a common complaint and can be exacerbated by
iron therapy. Usually dietary advice is sufficient. Laxatives may be used
but stimulants should be avoided due to the potential to stimulate the
uterine smooth muscle.

Haemorrhoids the weight of the gravid uterus reduces venous return
and his predisposes to haemorrhoids. Treatment is by avoiding
constipation and local application of proprietary creams.

Heartburn relaxation of smooth muscle by high circulating levels of
progesterone causes relaxation of the gastro-oesophageal junction and
reduces lower oesophageal sphincter pressure. This can result in the
passage of acidic gastric juice into the lower oesophagus. It is helpful to
avoid large meals, spicy meals, fatty foods, alcohol and cigarette
smoking. Sleeping in a more upright position can also help. Aluminium
and magnesium based antacids appear to be safe in pregnancy and there
have been no reported teratogenic effects of ranitidine.

Itching this can be localised to the peritoneum or may be generalised.
Localised itching may be due to infection, particularly candida.
Generalised itching may occur with eczema, urticaria or scabies.

Leg cramps this affects a third of all pregnant women and will be severe
in 5%. Elevating the leg end of the bed by 20cm can help. Salt
supplements are of unproven benefit and quinine should not be used,
Page | 623

Nausea and vomiting this commonly starts at around 6 weeks gestation
and settles at 12-16 weeks but can continue throughout pregnancy. It is
referred to as morning sickness but often persists throughout the day.
The sickness often takes the form of retching rather than true vomiting
and seldom affects the mothers health. The cause is unknown but is
thought to relate to hCG levels. Those admitted to hospital with this are
said to have hyperemesis gravidarum with an inability to keep down
fluids, losing weight, becoming dehydrated, electrolyte disturbances and
rarely losing vitamin B. On admission the urine should be dipped for
ketones and the blood sent for U&Es and haematocrit. Treatment with IV
fluids is usually sufficient as the only management and no anti-emetics
are licensed in pregnancy even though the risk of teratogenicity is
probably very low.

Vaginal discharge physiological discharge may be heavier during
pregnancy but pathological causes need to be excluded. This includes
candida and swabs should be taken.

Varicose veins these, along with ankle oedema, are common as the
weight of the gravid uterus impaired venous return. They seldom improve
until after delivery. Symptomatic relief can be gained from rest, elevation
of the legs and compression stockings.

Patient education
- Classes are available to pregnant women which gives guidance and
information on pregnancy and parenthood as well as what to expect at
delivery such as types of analgesia available.

Drug misuse

This is associated with socioeconomic deprivation and an increase in
obstetric complications including miscarriage, antepartum haemorrhage,
fetal growth restriction, intrauterine death and preterm labour. A drug
history needs to be taken which should include:
Type of drug street drug or pharmacological
Pattern of use, dose, route, frequency and method of financing
Social support other children, partner, family, friends, social work
involvement, clothing, food, shelter and transport
Impending legal problems
Risk of infection from HIV, hep B/C etc
Domestic abuse risk

Management should be broken into social factors and detoxification.
- Social factors: addiction is expensive and addicts often become involved
in theft or prostitution. Attendance at antenatal care may often compete
with more immediate problems but should be given with open access. For
Page | 624

opiate users it is worth considering changing to methadone for more
stable levels and less risk of fetal distress and preterm labour associated
with sudden withdrawal.
- Detoxification: there are theoretical risks from rapid detoxification but in
theory these are practically very small. Despite this detoxification should
be done on an obstetric unit if rapid. It is not necessarily good to aim for
abstinence but rather achieving a sustainable consistent dose. Topic up
with benzodiazepines is particularly dangerous.

Neonatal complications there is an increased incidence of low birth
weight due to fetal growth restriction, preterm delivery and sudden infant
death syndrome. Neonatal withdrawal syndrome is particularly associated
with opiates and benzodiazepines and is worse when these are used
together. Severity is dose related and time depends on the rate of drug
metabolism. E.g. injected heroin gives signs in 1 days compared to 3-5
days with methadone. There is CNS excitement, GI dysfunction and
respiratory distress. Replacement therapy is recommended except for
benzodiazepines and withdrawal symptoms can be reduced by breast
feeding.

Fetal effects of drugs:

Drug Effect on Fetus
Alcohol There is no clear dose relationship. Fetal alcohol
syndrome is rare. Even small amounts of alcohol can
lead to a reduction in birth weight and intellectual
impairment
Amphetamines No good evidence of fetal abnormality
Benzodiazepines Neonatal withdrawal occurs at levels associated with
abuse, even after brief use. Floppy child syndrome
may occur if given to a nondependent mother in the
15h before childbirth
Ecstasy No increased risk has been shown
Cannabis No demonstrated problems but almost definitely
causes fetal growth restriction like normal smoking
Opiates Associated with fetal growth restriction and preterm
labour
Cocaine Increased risk of placental abruption, premature
rupture of membranes and possible fetal growth
restriction and SIDS
Nicotine Associated with fetal growth restriction, preterm
labour, perinatal death and delayed development
LSD No increased risks

Chapter 29 Postnatal Care

Page | 625

The puerperium is defined as being from delivery of the placenta to the
end of the sixth postnatal week. This is an arbitrary definition as there is
no true physiological basis. Some pregnancy changes revert within
minutes of birth whilst others never do.

The uterus contracts within a few minutes of delivery from a cavity
capable of containing 4 or 5 litres to a space barely able to contain an
adults finger. It involutes over the next 4 weeks, its weight reducing from
1000g to just 50-100g, with the lochial discharge changing from red to
brownish pink and finally to cream/white. Maternal weight decreases,
plasma volume, red cell mass and haemostasis revert to normal, and the
other systemic, endocrine and metabolic adaptations return to the pre-
pregnancy state. Lactation, instigated by the falling progesterone levels
and maintained by oxytocin, can inhibit the return of menstruation and
fertility until weaning. Routine postnatal assessment is useful to help
provide the mother with support as she cares for her baby, and to identify
any puerperal complications at an early stage.

Normal Puerperium for those giving birth in hospital the postnatal stay
should be tailored to each individual woman and depends on maternal
wishes, clinical condition, maternal health problems, difficulty
feeding/bonding and poor home support. A stay can vary from immediate
discharge to a few days or longer. If the woman is rhesus negative then a
Kleihauer test should be sent and the babys blood group established to
check whether anti-D treatment is needed. The mother should be offered
rubella vaccination if she is not immune.

Early postnatal checks In the UK the midwife sees the woman regularly
after birth based on individual needs. She checks on:
General emotional and physical well-being
Infant feeding and care breastfeeding should be encouraged if
possible
Urinary and bowel function
Lochia this may continue for up to 4-8 weeks
Contraceptive plans

On examination the following should be checked as a matter of routine:
Pulse, blood pressure and temperature, looking for signs of
haemorrhage, anaemia and or sepsis.
Abdominal examination to ensure that the uterus is involuting and
non-tender. On the first day after birth the uterine fundus should be
palpable at the umbilicus and it gradually reduces in size until, by
the 10
th
-14
th
day it is no longer palpable above the symphysis
pubis.
The perineum, looking particularly for evidence of wound
breakdown in those who have had perineal trauma and/or sutures.
Cool gel packs may be applied intermittently, although ice packs are
Page | 626

no advocated. Simple analgesia can be prescribed and local
anaesthetic gels or sprays may sometimes be of help

The midwife will see a woman for a minimum of 10 days and up to 28
days. In some regions the duration is extended to 6 weeks to coincide
with the 6-week examination.

Late postnatal check this usually takes place around 6 weeks after birth
and should be a chance to review the birth, address any doubts or
questions, and place these in context for future births. It is important to
assess the baby and how well the mother is coping, looking particularly
for tiredness or depression. The maternal haemoglobin may be checked
and cervical cytology performed as appropriate. Contraception is
discussed and enquires made about whether intercourse has resumed and
whether there were any specific problems.

Postnatal problems

Anaemia the incidence of postnatal anaemia is 25-30%. It is reasonable
simple to treat non-symptomatic anaemia with oral iron, reserving
transfusion for those with significant symptoms.

Bowel problems constipation may be due to a number of factors,
including fear of defecation following perineal trauma, reduced mobility,
oral medication such as iron or codeine, or narcotic analgesia in labour.
Constipation is reported by up to 20% of women in the puerperium.
Haemorrhoids also affect around 20% of women and these often persist
for some time after birth. They are more common in primiparous women
and after instrumental delivery.

Breast problems two thirds of women will have some problem including
nipple pain, engorgement, mastitis, thrush, cracks, abscesses and
bleeding. For women who are not breastfeeding, suppression of lactation
is the main problem with engorgement being the main symptoms. For
breastfeeding women, problems can largely be prevented by proper
advice regarding positioning of the babys mouth and supportive
counselling. Mastitis, if it occurs, is usually the result of a blocked duct,
although it can occur secondary to infection (e.g. with staph aureus).

Episiotomy breakdown this is not uncommon, but long-term problems
are rare. If the wound is clean, resuturing should be considered. If there
is any suggestion of infection, however, it is probably better to allow
healing by secondary intention and antibiotics should be considered.

Incontinence in the first year after birth 3-5% of women experience
urinary tract infection and about 5% report urinary frequency for the first
time. Low-grade urinary tract infection is possible especially after
Page | 627

catheterisation. At least 20% of women suffer from stress incontinence if
assessed 3 months after birth. This is mostly from neurapraxia (a
temporary loss of motor and sensory function of the PNS due to blocked
nerve conduction) and commonly resolves spontaneously. A few women
will still be incontinent a year later.

Inability to control flatus or faeces occurs in around 5% of women after
birth but is often not reported due to embarrassment. According to
ultrasound studies almost 35% of primiparae (given birth to first child)
have demonstrable damage to the anal sphincter although many do not
have symptoms. Both perineal trauma and nerve damage following
spontaneous or instrumental delivery contribute to the problem.
Investigation and treatment of symptoms is warranted.

Psychiatric problems in the puerperium covered extensively in
psychiatry

The postnatal blues this occurs in 50% of women, usually beginning on
days 2-4, peaking at days 4-6 and lasting 2-7 days. It is a mood
disturbance rather than a mood illness, which may have a hormonal
basis, and it is unrelated to obstetric or cultural factors. There is
emotional lability, tearfulness, sadness, sleep disturbance, poor
concentration, restlessness and headaches. The mother may feel
vulnerable and/or rejected, and may show undue concern for the baby.
Treatment is with reassurance and support

Postnatal depression the incidence iis between 10-25% in the first
postnatal year with the peak onset around weeks 3-4. In two-thirds the
illness is self limiting but it one third it can be sustained and severe.
There are the usual features of depression but particularly increased
irritability, tiredness, decreased libido, guilt at not loving or caring enough
for the baby, inability to cope with the baby, or undue anxieties over the
babys health and feeding. There is no biochemical explanation but there
are likely to be a number of social and psychological factors. It may be
associated with a past medical history of depression. Encouraging women
to talk about their feelings helps to increase recovery time. Treatment
depends on severity but includes brief psychotherapy, supportive
psychotherapy, counselling and antidepressants. The outcome is generally
good

Puerperal psychosis this has an incidence of 1 in 500-800 deliveries,
beginning around days 3-7 and peaking at 2 weeks. There may be serious
risks to both the mother and baby with 5% of women killing themselves
and 4% killing their baby. There are variable psychotic symptoms which
are sometimes superimposed on postnatal blues. Mood abnormality is
common and the mother may be suspicious, sometimes denying the
pregnancy and baby. There may be delusions, hallucinations, confusion
Page | 628

and cognitive impairment. The condition is associated with a past history
of psychosis, with being unmarried, c-section, developing an infection or
suffering perinatal death. Mother and baby should be admitted to a
special unit and prognosis is generally good but 20% will have a repeat
episode in further pregnancy and 50% will have another psychotic
episode later in life.

Puerperal pyrexia this is defined as a temperature above 38
o
C on any
occasion in the first 14 days after birth or miscarriage (although a slight
fever is not uncommon in the first 24 hours). Pyrexia is usually due to
urinary or genital infection but may also be due to infection of the chest
or breast. DVT and pulmonary thromboembolism should be considered.
After a full clinical examination a midstream urine and
endocervical/wound swabs should be sent for analysis. In general if the
mother is well and only with a mild temperature elevation then she can be
managed conservatively. An unwell mother may require broad spectrum
antibiotics.

Superficial thrombophlebitis this affects about 1% of women and is a
very painful erythematous and tender vein. Treatment is with support
stockings and anti-inflammatory drugs.

Chapter 30 Medical disorders in pregnancy

Diabetes may be diagnosed before pregnancy or during pregnancy.
Discovery during pregnancy is rare for type 1 DM but not uncommon for
type 2. In addition to these a transient self-limiting state of
hyperglycaemia may occur in pregnancy as a result of maternal endocrine
changes.

Glucose homeostasis is maintained by the balance between insulin and
other hormones such as glucagon and cortisol. In pregnancy the placenta
produces additional cortisol as well as other insulin antagonists such as
human placental lactogen, progesterone and hCG, all of which tend to
increase maternal glucose levels. If the beta islet cells are unable to
compensate, or if there is maternal insulin resistance, the mother may
develop a state of hyperglycaemia referred to as gestational diabetes. A
lesser rise in glucose is termed impaired glucose tolerance of pregnancy.

Women with pre-existing diabetes may have high glucose levels during
the first trimester at the time of organogenesis and consequently there is
an increased incidence of congenital abnormalities. These are mainly
cardiac defects, neural tube defects and renal anomalies. The mechanism
is unclear but good glucose control is important.

Page | 629

Fetal glucose levels closely reflect those of the mother as glucose can
cross the placenta. Maternal insulin does not cross the placenta and the
fetus can produce this from around 10 weeks. Insulin is very important in
fetal growth and, if glucose levels are high, this can lead to macrosomia
(large baby) and organomegaly as well as increased erythropoiesis and
neonatal polycythaemia.

In addition to the risk of congenital abnormalities there is also a risk of
unexplained intrauterine fetal death, possibly because fetal
hyperinsulinaemia leads to chronic hypoxia and lactic acidaemia. Although
growth restriction can occur, only 15% weigh less than the 50
th
centile
and labour/delivery may therefore be complicated by dystocia. Neonates
may go on to develop hypoglycaemia.

Effects of pregnancy on diabetes insulin requirements may be static or
decreased during the first trimester but typically increase in the 2
nd
and
3
rd
up until just before 40 weeks where they reduce slightly. Pregnancy
can exacerbate diabetic retinopathy so this needs regular assessment.

Effects of diabetes on pregnancy the incidence of pre-eclampsia is
increased. This is also an increased incidence of maternal infection,
particularly of the urinary tract. Polyhydramnios may result from fetal
polyuria.

Screening a 75g GTT at 24-28 weeks is offered to women who have risk
factors (FH, BMI>30, previous macrosomic baby or previous GDM). With
previous GDM a test is offered at 16-18 weeks and again at 28 weeks.
Normal fasting is <5.5mmol/l. The GTT should be a fasting sample and if
>7.0 at one hour and >11.1 at two hours then it is diabetes. If it is <7.0
at 1 hour and 7.8-11.1 at two hours then it is impaired glucose tolerance.
10% of pregnancy women will have IGT.

Management treatment of IGT and GDM is dietary and adjustment with
insulin only be considered if target levels are not achieved. There is some
evidence for the use of metformin. Up to 70% of women with GDM go on
to develop diabetes within 25 years.

Antenatal management of established DM at pre-pregnancy counselling
advice should be given about good control, diet, smoking and high dose
folate supplements. Blood glucose should be monitored at home with a
tight control. HbA1c should be checked monthly, aiming for less than
6.1%. Insulin should be used as normal and care taken to avoid
ketoacidosis as this can lead to perinatal mortality. Maternal renal
function and optic fundi need examining in early pregnancy and a detailed
anomaly scan offered at 18-22 weeks. The abdomen should be checked
for polyhydramnios, macrosomia or fetal growth restriction. With regards
to delivery each case should be considered individually. There is no need
Page | 630

for intervention before 38 weeks if there are no complications. If preterm
then steroids should be given as normal but this will lead to a marked
deterioration in diabetic control until insulin doses are increased
appropriately.

Delivery the risk of shoulder dystocia and fetal macrosomia should
necessitate a planned caesarean section. A fetal ultrasound is only
accurate to 15% so only advice can be given. Immediately postpartum
insulin requirements will rapidly return to pre-pregnancy levels and the
previous regimen can be established. For women with GDM insulin should
be discontinued following delivery.

Venous thromboembolic disease

Antenatally during pregnancy the clotting system is altered towards clot
formation. There are increased levels of prothrombin and other clotting
factors, together with reduced levels of endogenous anticoagulants. In
addition to this the gravid uterus causes a degree of mechanical
obstruction to the venous system and leads to peripheral venous stasis in
the lower limbs. The risk is much lower in Asian and African women. Most
deaths (over 50%) occur antenatally and in the first trimester. Over 80%
of DVTs are left sides compared to 55% in non-pregnant women. Also
around 70% are iliofemoral compared with 9% of non-pregnant women.
Thromboembolism usually presents with calf tenderness, cough and chest
pain. It may also present with lower abdominal and groin pain. D-dimer
testing is not useful in pregnancy. Duplex Doppler is particularly useful at
identifying femoral vein thromboses although iliac veins are less easily
seen. Pregnancy is not a contraindication to a chest x-ray in this case.
Treatment is with IV or subcutaneous heparin which should be continued
into labour. LWMH is most appropriate as it carries a lower risk of
thrombocytopenia and osteoporosis. The woman may continue this
therapy for 6-12 weeks after birth.

Postnatal the risk of all women needs assessing after birth and should
include age>35, obesity >80kg, para >4, varicose veins, infection, pre-
eclampsia, immobility, major illness, c-section and family history. LWMH
should be offered to these women.

Cardiac disease

Heart disease complicates less than 1% of pregnancies but accounts for
16% of maternal deaths. Maternal mortality is highest in conditions where
pulmonary blood flow cannot be increased to compensate for the
increased demand during pregnancy, e.g. Eisenmenger syndrome.
Unfortunately many of the signs and symptoms of heart disease are
similar to those in normal pregnancy, making clinical diagnosis difficult.
Breathless and syncope are present in 90% of normal pregnancies, atrial
Page | 631

ectopic beats are common and up to 96% of normal women may have an
audible ejection systolic murmur. Further investigations are needed if the
murmur is loud (>2/6), if a thrill is present, or if there are other
suspicious features. With AF anticoagulants are required to prevent
problems. If the maternal PO
2
is decreased the fetus is at risk from
hypoxia and fetal growth restriction and should be carefully monitored. MI
is rare during pregnancy but is the commonest cause of maternal
mortality. Peripartum cardiomyopathy is also rare (<1:5000) but carries a
5% mortality and is associated with hypertension in pregnancy, multiple
pregnancy, high multiparity and increased maternal age.

Epilepsy

A seizure in pregnancy should be assumed to be eclampsia until proven
otherwise. Around 1/3 of pregnant women with epilepsy have an increase
in seizure frequency independent of the effects of medication. For women
with epilepsy on treatment, the fall in anticonvulsant levels due to
dilution, reduced absorption, reduced compliance and increase drug
metabolism is partially compensated for by reduced protein binding.
There is an increased risk of fetal abnormalities with antiepileptic drugs
(AEDs). Single drug regiments are safer and sodium valporate carries the
highest risk. Folate should be continued until ideally 12 weeks and
anticonvulsant disease adjusted. Oral vitamin K is needed daily from 36
weeks as some anticonvulsants are vitamin K antagonists. Most seizures
will be self limiting but rectal or IV diazepam can be used. The mothers
can generally breast feed safely as the drug is only transferred in small
amounts.

Hepatic disorders

There are many causes of liver disorders in pregnancy. A history of
prodromal illness, overseas travel and high risk groups should be checked
for viral hepatitis. An itch is suggestive of cholestasis and abdominal pain
is associated with gall stones, HELLP syndrome or acute fatty liver.

Renal disorders

In pregnancy there is a physiological increase in the size of both kidneys
as well as dilatation of the ureter and renal pelvis. This dilatation is
greater on the right than on the left because of dextrorotation of the
uterus. There is also an increase in creatinine clearance owing to the
increased glomerular filtration rate. In pregnancy the normal urea is
<4.5mmol/l and creatinine <75micromol/l.

UTIs occur in 3-7% of pregnancies and, if untreated, may lead to
septicaemia and preterm labour. Asymptomatic bacteriuria should be
Page | 632

treated since there is a 30-40% risk of developing a symptomatic UTI.
Pyelonephritis should be treated aggressively.

Acute hydronephrosis is characterised by loin pain, ureteric colic, sterile
urine and a renal ultrasound scan showing dilatation of the renal tract
greater than normal for pregnancy. Treatment is with ureteric stenting or
nephrostomy. There may be no obvious cause of obstruction and
complete resolution may occur following delivery. Renal tract calculi are
associated with an increased incidence of UTIs but otherwise do not
usually affect pregnancy.

Chronic renal disease in pregnancy can still have a good outcome if
maternal BP and renal function are optimised. Hypertension should be
treated aggressively and urine tested on each visit. It is difficult to
differentiate pre-eclampsia from renal compromise as both may present
with hypertension and proteinuria. Pregnancy should be discouraged for
women on dialysis as fetal prognosis is poor.

Respiratory disorders

Breathlessness due to the physiological increase in ventilation is a
common symptom in pregnancy. Although there is an increase in tidal
volume from early pregnancy, the exact cause of feeling breathless is
unclear. Asthma as a disease is unchanged in pregnancy.

Thrombocytopenia

Maternal in the second half of normal pregnancies there is a mild
thrombocytopenia in 8% of women which is not associated with any
addition risk to the mother or fetus. The platelet count may be reduced in
pre-eclampsia. Autoimmune thrombocytopenic purpura is the commonest
cause of thrombocytopenia in early pregnancy and may be acute or
chronic. These Antiplatelet antibodies may occasionally cross the placenta
and affect the fetus. No treatment is required in the absence of bleeding.

Fetal this is a rare disorder where maternal antibodies affect fetal
platelets. This is similar to rhesus disease and, although maternal
platelets may be normal, the fetus will have profound thrombocytopenia
and intracranial haemorrhage.

Thyroid disorders

1% of pregnancy women in the western world are affected by thyroid
disease, with hypothyroidism being commoner than hyperthyroidism. The
fetal thyroid gland produces hormone from the 12
th
week and is
independent to maternal control.

Page | 633

Hypothyroidism this presents with fatigue, hair loss, dry skin, abnormal
weight gain, poor appetite, cold intolerance, bradycardia and delayed
tendon reflexes. If untreated there is an increased risk of spontaneous
miscarriage and still births as well as the risk of neurological impairment.
Fetal hypothyroidism may occur if the mother carries anti-thyroid
antibodies or is receiving anti-thyroid medication.

Hyperthyroidism thyrotoxicosis presents with weight loss,
Exophthalmos, tachycardia and restlessness. It is usually due to Graves
disease but can be secondary to a toxic thyroid adenoma or multinodular
goitre. Untreated it is associated with a high fetal mortality and risk of
maternal thyroid crisis at delivery. Well treated there are no risks to the
baby but they tend to be born smaller. Carbimazole crosses the placenta
and can potentially cause fetal thyroid suppression. Radioactive iodine is
contraindicated in pregnancy and surgery is only indicated in large goitres
or with poor oral compliance.

Postpartum thyroiditis this occurs following 5-10% of all pregnancies
with initial hyperthyroidism followed by hypothyroidism and then
recovery. Because this occurs at around 1-3 months it can be associated
with postnatal depression. This usually resolves within 6 months and
should be treated symptomatically.

Chapter 31 Prenatal Diagnosis

The aims of prenatal diagnosis are fourfold:
The identification at an early gestation of abnormalities
incompatible with survival, or likely to result in severe handicap, in
order to prepare parents and offer the option of termination of
pregnancy (TOP)
The identification of conditions which may influence the timing, site
or mode of delivery
The identification of foetuses who would benefit from early
paediatric intervention
The identification of foetuses who may benefit from inutero
treatment

Screening

Ultrasound screening mothers should be offered a detailed ultrasound
scan at around 18-21 weeks gestation. This has the advantage of allowing
good identification of major anomalies whilst still giving the parents with
option for TOP or altering the plans for delivery. Scanning has its
limitations and many defects are not identified (e.g. 50% of cardiac
defects are missed). Furthermore a soft marker may be uncovered for
Page | 634

which the significance is unclear and can lead to unnecessary worry for
the parents. Such markers include choroid plexus cysts, renal pelvic
dilatation and echogenic cardiac foci. If multiple are found then a
chromosomal problems becomes more likely. Chromosomal abnormalities
are harder to identify than structural problems (e.g. 2/3 Down syndromes
foetuses will appear normal at 18 weeks).

Serological screening This is used almost exclusively to detect two
abnormalities: spina bifida and Down syndrome. Alpha-fetoprotein is an
alpha-globulin of similar molecular weight to albumin which is synthesized
by the fetal liver. If there is a break in the fetal skin (i.e. with spina
bifida) then it escapes into the maternal circulation and levels will be
raised. Normal serum levels will rise with pregnancy so labs report results
as multiples of the median level for unaffected pregnancies at the
gestation of sampling. High levels indicate the need to check for spina
bifida, twins, intrauterine death and gastroschisis. Secondly it has been
found that the levels of alpha-fetoprotein are lower in children who have
Down syndrome and this can be further modified by measuring the hCG
(which should be raised) and the Oestriol (should be low).

Nuchal translucency this is used to screen for Down syndrome during
the first trimester. The larger the measurement the higher the risk but
the measurement is usually combined with first trimester biochemistry to
give a better picture. CVS then may be used to establish an earlier
diagnosis than amniocentesis thereby allowing surgical termination.
Increasing nuchal translucency is also a marker for structural defects,
particularly cardiac, renal, abdominal wall and diaphragmatic hernias.

Diagnosing chromosomal abnormalities

Amniocentesis this can be used diagnostically after 15 weeks gestation.
A 22-guage needle is inserted into the amniotic cavity under ultrasound
control and 10-15ml of amniotic fluid is drawn off. Rhesus negative
women are given anti-D immunoglobulin. The risk of miscarriage is
around 1%. Karyotype results are usually available in 3 weeks but rapid
FISH or PCR can give results in 72 hours.

Chorionic villus sampling can be performed at any time after 10 weeks.
Either a flexible cannula is passed through the cervix or a needle is
passed transabdominally, both under ultrasound control. Results are
usually available in 72 hours with the full karyotype in 3 weeks. CVS
carries the same complication rate as amniocentesis but with a 2%
miscarriage rate.

Structural and chromosomal abnormalities

Page | 635

Down Syndrome (trisomy 21) the overall incidence is 1:650 live births
but this increases with maternal age:

Age Risk
20 1:2000
30 1:900
35 1:350
36 1:240
38 1:180
40 1:100
44 1:40

Despite these statistics most Down syndrome children are born to
younger mothers as they have more children than older women. This
condition is discussed in paediatrics.

Edwards, Patau and Turner syndrome are all discussed in paediatrics

Triploidy (three sets of all chromosomes) these children rarely survive
to birth and there is no survival beyond the neonatal period.

XXX the incidence here is 1:1000 but this is tripled in over 40 year olds.
The phenotype and fertility are normal and the abnormality frequently
goes unnoticed. There is however a risk of sex chromosome abnormalities
and premature menopause. Dysmorphism and mental retardation are
more common in this group.

XXY (Klinefelter syndrome) this is uncommon (1:700-2000). The
individual is phenotypically male who is tall with a reduced IQ, sparse
facial hair and Gynaecomastia. It causes male hypogonadism and is
usually diagnosed in the investigations of male infertility.

Cystic hygroma these are fluid swellings at the back of the fetal neck
which probably develop because of a defect in the formation of lymphatic
vessels. Large hygromas are frequently divided by septae and may be
associated with skin oedema, ascites, pleural and pericardial effusions and
cardiac/renal abnormalities. There is an association with aneuploidy (an
abnormal number of chromosomes). If fetal hydrops is present then
prognosis is poor but if not then surgical removal is possible and
prognosis is good.

Congenital heart disease the four chamber view of the heart can be
used as a screening test and will identify 25-40% of all major
abnormalities, particularly VSDs. The arteries and veins are also checked
for Tetralogy of fallot and transposition of the great vessels.

Page | 636

Neural tube defects the neural tube is formed from the closing of the
neural folds with both anterior and posterior neuropores closed by 6
weeks gestation. Failure to close the anterior pore results in
anencephaly/Encephalocele and failure to close the posterior pore results
in spina bifida. Anencephaly is where the skin vault and cerebral cortex
are absent so the infant is either still born or dies shortly after birth. With
Encephalocele there is a bony defect in the cranial vault through which
dura mater protrudes. This can be occipital or frontal and usually carry a
good prognosis is small.
Spina bifida can take the form of a meningocele or a Myelomeningocele.
In a meningocele the meninges of the neural tissue bulge through a
posterior spinal wall defect, whereas in a Myelomeningocele the central
canal of the cord is also exposed. Those with a meningocele usually have
normal lower limb neurology and 20% have hydrocephalus. With
myelomeningoceles usually have abnormal lower limb neurology and
many have hydrocephalus. Additionally there may be problems with
immobility, mental retardation, urinary tract infections, bladder
dysfunction, bowel dysfunction and social/sexual isolation. Daily folic acid
taken before conception reduces the recurrence risk.

Abdominal wall defects exomphalos and gastroschisis are talked about
in the paeds notes.

Genitourinary abnormalities

Multicystic dysplastic kidneys the kidneys have large discrete non-
communicating cysts with a central, more solid core and are thought to
follow early developmental failure. If the cysts only affect one kidney, the
other is normal and there is adequate liquor then the prognosis is good.
Otherwise the prognosis is poor.

Polycystic kidney disease adult disease has an autosomal dominant
inheritance and is relatively benign, often not producing symptoms until
the 5
th
decade of life. Infantile disease has an autosomal recessive
inheritance and cysts can range from microscopic to several millimetres
across. Both kidneys are affected and there may also be cysts in the liver
and pancreas. Ultrasound may show oligohydramnios, an empty bladder
and large symmetrical bright kidneys. If the child survives then there may
be problems relating to blood pressure and progressive renal failure. Long
term survival is rare.

Pyelectasis renal pelvic dilatation may be unilateral (79-90%) or
bilateral. It is probably cause by a neuromuscular defect at the junction of
the ureter and the renal pelvis and presents with the presence of
increasing pelvic dilatation with a normal ureter. It is associated with
posterior urinary tract infections and reflux nephropathy. Some may
require surgery to prevent VUR damaging the kidneys.
Page | 637

Posterior urethral valves here folds of mucosa at the bladder neck
prevent urine leaving the bladder. The fetus is usually male and there is
often oligohydramnios with varying degrees of renal dysplasia.

Potters syndrome discussed in paediatrics

Lung disorders

Pulmonary hypoplasia and diaphragmatic hernia are discussed in
paediatrics.

Single gene disorders

CF and fragile X - see paediatrics

Tay-Sachs disease the gene frequency is 1:30 in Ashkenazi Jews can
leads to the build up of gangliosides within the CNS leading to mental
retardation, paralysis and blindness. By the age of 4 the child is usually
dead or in a vegetative state.

Prenatal congenital infection

Infections in general raise the maternal levels of immunoglobulin of both
the IgG and IgM variety. Maternal IgG crosses the placenta whilst IgM
does not. The fetus does not make IgM until beyond 20 weeks gestation
and its presence in fetal or early neonatal blood implies infection.
Infection does not necessarily mean this has caused a problem and
absence of fetal or neonatal IgM at sampling does not completely exclude
intrauterine infection.

Chickenpox severe and even fatal chickenpox can occur in neonates
whose mothers develop chickenpox just before delivery as the baby is
born before maternal IgG production has increased sufficiently to allow
passive placental protection. If maternal infection occurs 1-4 weeks
before delivery, up to 50% of babies are infected and approximately a
quarter develop clinical varicella. Severe infections are most likely to
occur if the child is born within 7 days of onset of the mothers rash, when
cord blood IgG is low. Id delivery occurs within 5 days of infection or if
the mother develops chickenpox within 2 days of giving birth then
neonates should be given passive VZV Ig and then monitored for around
2 weeks. Active infection needs treating with aciclovir.

Hepatitis hep A is not associated with any significant complications. All
mothers are screened for hep B. The initial serological response produces
HBsAg followed by HBeAg (a marker of high infectivity). Vertical
transmission is likely to occur if HBeAg is high. The baby should be given
Page | 638

passive hep B Ig at birth as well as the active hep B immunisation. Hep C
transmission is related to viral load but treatment in pregnancy seems to
have no effect. Hep E is rare but carries a 30% maternal mortality rate
and possible risk of fetal loss.

HSV an acute attack of genital HSV shortly before birth may lead to
localised or systemic neonatal infection and encephalitis. The risk is
greatest with primary infection but can occur with recurrences. Screening
is of no proven benefit but C-section may be indicated in the presence of
a primary infection.

Rubella antibodies for this are routinely checked at the first antenatal
visit and postnatal vaccination is offered if those titres are low. During
infection the mother can be asymptomatic or have a mild maculopapular
rash. However it can be highly damaging to the fetus, especially if early
gestation (<13 weeks) and problems include IUGR, low platelets,
hepatosplenomegaly, deafness, jaundice, cerebral palsy and congenital
heart disease.

Erythrovirus (parvovirus) infection in early pregnancy can cause aplastic
anaemia in the fetus, leading to high output cardiac failure and fetal
demise. Transfusion is very effective with an excellent prognosis.

Listeria monocytogenes this is found in soft cheeses, pate, cooked-
chilled meats and partially cooked ready meals. Following ingestion there
may be a fleeting bacteraemia resulting in this crossing the placenta and
causing amnionitis, preterm labour or spontaneous miscarriage.

Group B strep about 5-20% of women carry this organism in the
vagina. It is associated with premature SROM. About 50% of babies are
colonised at delivery but only 1% develop an infection. The neonatal
mortality from this infection is as high as 80% with 50% of the survivors
having serious neurological problems. Screening is not recommended as
carriage status can quickly change. However, if the woman is known to be
infected then she should be actively treated.

Syphilis this is rare congenitally and those identified need penicillin
treatment.

Chapter 32 Obstetric Haemorrhage

Obstetric haemorrhage is one of the leading causes of maternal mortality
worldwide and, even in more affluent societies, death still occurs. A
vaginal examination should never be performed in the presence of vaginal
bleeding without first excluding placenta praevia.
Page | 639

Vaginal bleeding associated with intrauterine pregnancy is divided into the
following categories:
Threatened miscarriage up to 24 weeks gestation
Antepartum haemorrhage from 24 weeks gestation until the onset
of labour
Intrapartum haemorrhage from the onset of labour until the end
of the second stage
Postpartum haemorrhage from the third stage of labour until the
end of the puerperium

Antepartum haemorrhage

Causes:

Local there may be local bleeding from the vulva, vagina or cervix.
Bleeding from the cervix is not uncommon in pregnancy and may be
provoked by sexual intercourse. A cervical ectropion is often found, and
only very rarely is there a carcinoma. Later in pregnancy a show of mucus
and blood may simply herald the onset of labour as the cervix becomes
effaced.

Placenta praevia this is defined at the placenta encroaching on the
lower segment, with the lower segment being arbitrarily defined on
ultrasound scanning as extending 5cm from the internal os. This is
commoner in older mothers and those with previous caesarean section. It
can be either major or minor. With a major placenta praevia it is not
possible to avoid haemorrhage in labour but it may be possible with minor
placenta praevia. Realistically the engagement of the presenting part of
the fetus is more important than the length the placenta is from the
internal os. Those who are not even partially engaged should be delivered
by c-section. A large blood loss should be anticipated.

A low-lying placenta may be identified early in an asymptomatic woman
at the time of ultrasound scan. As the uterus grows from the lower
segment the placenta appears to move upwards with advancing gestation
and hence 2% of those with low-lying placentas before 24 weeks go on to
have placenta praevia at term (risk increases with identification at
advancing gestation). A major PP is if it covers part of or the whole of the
os. A minor PP is where it encroaches on the lower segment and if it
reaches the margin of the internal os.

The risk of placenta praevia is of sudden and unpredictable major
haemorrhage and some clinicians recommend hospitalisation from 30-32
weeks gestation. Elective delivery is usually planned for 38-39 weeks but
may be earlier if major haemorrhage. If the placenta invades the
Page | 640

myometrium then it is termed the placenta accrete and this markedly
increases the chance of severe haemorrhage.

Placenta abruption defined as retroplacental haemorrhage and usually
involves some degree of placenta separation. Its management depends
on the amount of bleeding, the maturity of the baby and the fetal
condition. It is also essential to realise that the amount of revealed
bleeding from the vagina may not reflect the degree of internal
retroplacental bleeding and indeed it can be considerable without any
external loss (concealed). Maternal smoking is the principle risk factor for
abruption.

Light bleeding from the edge of a normally situated placenta does not
normally compromise the fetus and can be treated by a short spell of rest
with subsequent close supervision of fetal growth and placental function
until labour. Major reveals haemorrhage is obvious and urgent delivery is
usually required. A major concealed abruption is inferred from the degree
of pain, uterine tenderness and evidence of shock. If there is no fetal
heartbeat then vaginal delivery is indicated. Hypovolaemic shock may
develop and may progress to multisystem failure if not corrected. In
addition the release of thromboplastins from the damaged placenta may
leads to DIC with depletion of platelets, fibrinogen and other clotting
factors. Therefore waiting for a vaginal delivery carries risks and so a c-
section may sometimes be chosen. A c-section can be difficult if there is
DIC.

Unknown causes a specific explanation of bleeding is often not found,
even after the pregnancy is over, and it is then presumed to have come
from a normally situated placenta. Bleeding with no explanation is the
commonest clinical scenario and, in the absence of maternal or fetal
compromise, is managed expectantly.

Clinical presentation bleeding can be light, moderate or severe and with
or without pain. Admission to hospital is advised as even light bleeding
can be a sign of premature labour or a warning of further haemorrhage.
Observation will tell if the mother is in pain, which suggests placental
abruption or labour, and there may be visible blood on the bed, legs or
floor. If she is pale, with low BP and a rapid pulse then there is most likely
hypovolaemic shock. With an abruption the uterus is hard and tender and
there may be no discernible fetal heartbeat. When the bleeding is from a
placenta praevia the uterus is usually soft, the presenting part will be free
and the fetal heartbeat is usually present. Subsequent management
depends on the amount of haemorrhage.

Light bleeding with a soft uterus and normal cardiotocography an
ultrasound scan should be arranged to check the placental site and,
providing it is not low lying, a speculum examination should be performed
Page | 641

to look for cervical effacement, dilatation, an ectropion or a carcinoma.
Women who are rhesus negative should be given anti-D if over 12 weeks
gestation.

Light bleeding but with a hard, tender uterus this is probably a
concealed abruption and management should be as above. Resuscitation
will be needed and the route of delivery has to be considered.

Heavy bleeding whether placenta praevia or abruption, delivery is likely
to be required irrespective of gestation. Resuscitation will be required.

Intrapartum haemorrhage

Uterine rupture relatively rare and discussed later

Vasa praevia this is very rare and is where the cord vessels run in the
fetal membranes and cross the internal os. These vessels may rupture in
early labour and this leads to rapid fetal exsanguinations. It may be that
the cord is inserted into the membranes rather than the placenta.

Postpartum haemorrhage

There is always some bleeding during the third stage of a normal delivery,
usually around 200-300ml. A primary postpartum haemorrhage is defined
as a blood loss of 500ml or more with 24 hours of the delivery of the
baby. A secondary PPH is any significant loss between 24 hours and 6
weeks after the birth.

Primary PPH

This occurs in around 5% of all deliveries and is most common in grand
multiparity, multiple pregnancy, women with fibroids, polyhydramnios,
placenta praevia and those who have had a long labour. It can follow
antepartum haemorrhage and is also more common in those who have a
past history of PPH.

It is important to treat any anaemia in the antenatal period, particularly if
the woman is at high risk of PPH. It is usual to give a uterotonic such as
Syntocinon 5IU or Syntometrine with delivery of the baby. Active
management of the third stage of labour is associated with a lower
incidence of PPH.

Causes
Atony including retained placenta (90%). Normally contraction of
the uterus in the third stage causes compression of the
intramyometrial blood vessels, and bleeding usually settles
promptly. If there is uterine atony this compression does not occur.
Page | 642

If part of the placenta is retained then this is more common as its
physical presence prevents contraction occurring and partial
placental separation allows bleeding.
Trauma (7%) bleeding may be due to an episiotomy, a vaginal or
cervical laceration, or a rupture of the uterine wall. Lacerations of
the genital tract are more common after an instrumental delivery.
Coagulation problems usually DIC (3%)
Multiple causes may be present

The bleeding is usually obvious but occasionally an atonic uterus can fill
up without any obvious external loss. A less dramatic trickle of blood can
go unnoticed.

Management is to make a rough estimate of blood loss, check the pulse
and BP and palpate the abdomen to assess the size and tone of the
uterus. If the uterus is atonic then a contraction can be rubbed up by
abdominal massage. IV access should be established with two wide bore
cannulae and Syntocinon 10 IU stat should be given. Fluids should be put
up and the placenta should be delivered if possible. Further oxytocics may
be given and, if an ongoing loss, then a general anaesthetic allows
assessment for vaginal and cervical lacerations.

If haemorrhage continues a CVP line is needed and a blood transfusion
commenced. DIC should be corrected with FFP and techniques to stop
bleeding should be started. These include suturing, pressure balloons and
a hysterectomy.

Secondary postpartum haemorrhage this is usually due to infection or
retained products of conception or both, rarely to a vulva haematoma and
exceptionally to trophoblastic disease. The pulse, BP and temperature
should be checked, the uterus palpated for tenderness and an
endocervical swap sent for culture. In practice the management is either
conservative with antibiotics or surgical with the manual removal of
retained products of conception. Ultrasound can be unhelpful here as
many normal women will have some retained products.

Chapter 33 Small babies

Accuracy of dating

It is not possible to accurately diagnose SGA or IUGR without accurate
knowledge if gestation. Menstrual dating has significant inherent
inaccuracies. The date may be inaccurately recalled, the cycle may be
irregular and bleeding in early pregnancy may be mistaken for menses.
Gestation is most accurately determined by ultrasound before 20 weeks
Page | 643

gestation as it is presumed that all foetuses are of similar size up until
this point. The most reliable measurements are based on crown-rump
length between the 8
th
and 14
th
week and the biparietal diameter between
the 16
th
and 20
th
week. The EDD is taken as 40 weeks after the date of
the start of the last menstrual period providing the cycle is 28 days in
length. Abdominal palpation is an inaccurate way of assessing gestational
age, as is the date that fetal movements were noticed.

Small for gestation age (SGA) this describes the baby or fetus whose
birth weight or estimated fetal weight is below a specified centile (usually
the 10
th
).

Intrauterine growth restriction (IUGR) this indicates a fetus which fails
to reach its genetic growth potential. IUGR presents as a fetus whose
growth on serial ultrasound scannings falls below a certain threshold.
This threshold is poorly defined but can be the crossing of centiles. Babies
with IUGR appear thin (ratio of body weight to length) and have low skin
fold thickness. There is clearly an overlap between IUGR and SGA but
with SGA the fetus is constitutionally (normally) small as determined by
the genetics.

Fetal factors affecting growth the genetic makeup of the fetus is the
main determinant of the intrinsic drive and is related to a number of
factors, including ethnicity. The intrinsic genetic drive is more related to
the maternal genome than the genome of the father (large women have
large babies but large dads do not necessarily). Many developmentally
abnormal foetuses are small, presumably as a result of decreased intrinsic
drive. This is particularly seen with chromosomal abnormalities including
18, 13 and 21. Small babies are also found in association with structural
abnormalities of all the major organ systems as well as the fetal infection.
These include CMV, rubella and toxoplasmosis but worldwide the
commonest is malaria.

Maternal factors affecting fetal growth small variations in diet have little
effect on growth but extreme starvation can cause significant growth
impairment. There is no evidence that food supplementation above
normal diet provides any benefit. Oxygen supply is important and hence
babies born at high altitudes are smaller. This is also true of babies born
to mothers with chronic hypoxia secondary to congenital heart disease.
The fetus can partly compensate by placental hypertrophy. Drugs such as
tobacco and alcohol may decrease fetal growth. Maternal chronic disease
will also have an effect, especially renal problems.

Placental factors affecting fetal growth in the first trimester the
trophoblast cells invade the maternal spiral arteries in the decidua. In the
second trimester a secondary wave of trophoblast extends this invasion
along the spiral arteries and into the myometrium. This results in the
Page | 644

conversion of thick-walled muscular vessels with a relatively high vascular
resistance to flaccid thin-walled vessels with a low resistance to flow. In
certain conditions such as pre-eclampsia it would appear that there is a
failure of this second stage, the consequence being subsequent placental
ischaemia, atheromatous changes and secondary placental insufficiency.
Local placental blood flow is under the control of prostacyclin and
thromboxane, with thromboxane causing vasoconstriction and
prostacyclin causing vasodilation. There is a relative deficiency of
prostacyclin in pre-eclampsia and an increase in the production of
thromboxane. The net result is placental vasoconstriction. The production
of thromboxane (released from platelets) can be suppressed by the low-
dose aspirin therapy and this provides an option for treatment.

To compensate for any hypoxia the fetus will increase erythropoiesis in
order to increase its oxygen carrying capacity, and redistributes blood
away from the peripheral circulation, gut and liver towards the brain,
heart and adrenal glands. The result is a baby with normal growth in
length and brain development but who is thin and has little or no
subcutaneous fat. Glycogen stores are minimal.

Screening and diagnosis

Firstly a history may give some pointers towards the possibility of a small
baby, particularly if there has been a previous small baby, an antepartum
haemorrhage, or decreased fetal movements. The diagnosis should be
considered in any mother with pre-eclampsia or a history of a relevant
pre-existing medical disorder. Estimation of fetal weight from clinical
examination is notoriously difficult. The fundus reaches the umbilicus by
around 20-24 weeks and the xiphisternum by approximately 36 weeks.
Some clinicians will try bimanual palpation whilst others will use a tape
measure. After 20 weeks gestation the height of the uterus, measured
from the uterine fundus to the symphysis pubis in centimetres, is
approximately equal to the gestation in weeks. A measurement below the
10
th
centile is an indication for ultrasound examination.

Ultrasound can be used to support a diagnosis of SGA or IUGR and
includes fetal head circumference, the abdominal circumference and the
femur length. A measurement below the 10
th
centile for abdominal
circumference gives a 80% sensitivity of finding SGA.

SGA or IUGR those fetuses less than the 10
th
centile include those who
are constitutionally small (SGA) and those who have IUGR. The increased
risk of still birth, birth hypoxia, neonatal complications and impaired
neurological development are likely to be in the IUGR group only. Current
clinical practice is to plot two or more fetal measurements on a chart of
estimated fetal weight against gestational age. Specific charts are also
available to plot fetal growth velocity. A detailed scan is also indicated to
Page | 645

check for any chromosomal and structural abnormalities. A normal
structural scan however does not prove the absence of IUGR and it is
necessary to consider the parameters that are discussed below.

Management

Fetal movement monitoring a poorly nourished fetus will attempt to
conserve energy by becoming less active and the mother therefore will
perceive less movement. However most women experience decreased
fetal movements towards the end of pregnancy but any sudden change is
important.

Fetal cardiotocography the CTG gives a good indication of fetal well-
being at a specific point in time but has less long term benefit.

Biophysical profile (BPP) this includes a scoring of the CTG, fetal
breathing, movements, tone and liquor. The predictive value in IUGR is
very low. The test takes a long time to do (up to an hour). Many fetuses
with an abnormal BPP also have abnormal umbilical artery Doppler flow
and it is more reliable to rely on these studies.

Doppler ultrasound this is used as an assessment of placental vascular
resistance further downstream. A normal waveform indicates that an SGA
fetus is constitutionally small rather than growth restricted because of
impaired placental function. A reduction or loss of end diastolic flow
identified a fetus at high risk of hypoxia and absent end diastolic flow has
been shown to be a useful discriminator between those IUGR babies at
high risk of perinatal death and those at a lower risk.

Doppler studies of the fetal cerebral circulation can also provide additional
useful information. As the growth restricted fetus redistributes its blood
away from the less vital organs and towards the brain it is reasonable to
expect an increased cerebral flow. As the hypoxia becomes more severe
these flow will drop again. Finally Doppler scans of a fetal vein in the liver
(ductus venosus) can be used to indirectly measure the function of the
right side of the heart. Generally the sequence of changes noted with
progressive fetal hypoxia is impaired growth, abnormal artery waveform,
increased cerebral blood flow, abnormal ductus venosus flow and
abnormal fetal heart pattern followed by fetal demise.

Chapter 34 Pregnancy-induced hypertension, pre-eclampsia and
eclampsia

Intro

Page | 646

Although pre-eclampsia is association with abnormal trophoblast invasion
in the first half of pregnancy, it is not until later in pregnancy that the
clinical syndrome of pre-eclampsia is seen. Pre-eclampsia is defined as
hypertension with proteinuria. It is however a very heterogeneous
condition such that the timing of onset and the clinical course are
unpredictable. Some women only have hypertension and proteinuria
whilst others have renal involvement and liver impairment and yet some
may have IUGR secondary to placental disease. Eclampsia is a
generalised seizure that occurs during pregnancy in association with the
features of pre-eclampsia. In a proportion of women with eclampsia
however, the features of pre-eclampsia are not evident at the time of the
first seizure. The only cure for these conditions is delivery.

Hypertension is common in pregnancy and affects up to 15% of pregnant
women. Hypertension in pregnancy is classified into three groups
depending on the timing of onset and the associated clinical features.
These are:
Pre-existing (essential) hypertension (identified <20 weeks
gestation)
Pregnancy induced hypertension (hypertension only, no proteinuria)
Pre-eclampsia (hypertension and proteinuria +/- multisystem
involvement)

Hypertension

In normal pregnancy the maternal blood pressure falls slightly during the
first trimester, predominantly as a consequence of reduced systemic
vascular resistance. Maternal blood pressure continues to fall during the
second trimester and reaches a low at approximately 22-24 weeks.
Thereafter maternal blood pressure gradually increases during the third
trimester to reach pre-pregnancy levels. Maternal BP drops after delivery
but then rises to a peak on the 4
th
day. When measuring blood pressure
the Korotkoff sound V should be taken as when it disappears rather than
becoming muffled.
Hypertension in pregnancy is defined as BP of 140/90mmHg on
two occasions more than 4 hours apart.
A diastolic BP of 110mmHg on any one occasion or a systolic BP of
160mmHg on any one occasion is significant hypertension.
A SBP of 30mmHg above the booking SBP or a DBP of 15-25mmHg
above the booking DBP are alternative and widely used criteria for
hypertension in pregnancy.

Hypertension can be pre-existing or related to pregnancy (PIH or pre-
eclampsia). An early increase in BP before 20 weeks is usually due to pre-
existing hypertension, most commonly essential hypertension. In a young
woman with pre-existing hypertension a cause needs to be identified. This
diagnosis can be made retrospectively if the maternal BP has not returned
Page | 647

to normal within 3 months of delivery. PIH and pre-eclampsia rarely occur
before 20 weeks gestation unless associated trophoblastic disease or fetal
triploidy. Pre-eclampsia usually resolves within 6 weeks of delivery.

Essential hypertension this is common in older women and the
prognosis in pregnancy is generally good. Complications include
superimposed pre-eclampsia, placental abruption and IUGR. Diuretics and
ACEIs are contraindicated in pregnancy so alternative treatment may be
needed.

Pregnancy induced hypertension, pre-eclampsia and eclampsia

Risk factors include: first pregnancy, family history, extremes of maternal
age, obesity, renal disease, pre-existing hypertension, DM, previous pre-
eclampsia etc.

The exact method of causation is not known but it is thought to occur in
two distinct phases. The first is inadequate trophoblast invasion during
pregnancy and secondly, in later pregnancy, there is reduced placental
perfusion and uteroplacental ischaemia. It has been suggested that there
is a trigger which promotes widespread vascular endothelial dysfunction
subsequently causing metabolic changes, an exaggerated maternal
inflammatory response and reduced organ perfusion.

Maternal susceptibility the evidence for genotypic susceptibility is strong
with a 3-5 times increase if a first degree relative was affected. No gene
has been identified and it may be a combination of maternal, fetal and
paternal. Women with insulin resistance and central obesity are at
increased risk, as are those with connective tissue disorders such as SLE.
Those with thrombophilias are also at an increased risk suggesting a mix
of metabolic, immunological and coagulation processes.

Phase 1 abnormal placentation in normal pregnancy placentation occurs
between 6 and 18 weeks gestation. During this process major structural
changes occur to the spiral arteries allowing increased blood supply to the
placenta. Trophoblast invasion causes these arteries to expand to almost
5 times their normal size and become low resistance, high flow. If this is
inadequate then placental perfusion is poor and is associated with IUGR
that occurs independently of pre-eclampsia. During pregnancy this
invasion is regulated by factors expressed within the decidua. Inadequacy
of any of these factors may lead to poor invasion and pre-eclampsia.
Abnormal placentation may also be the result of maternal immune
rejection of paternal antigens expressed by the fetus.

Phase 2 endothelial dysfunction the second phase of pre-eclampsia is
characterised by widespread endothelial damage and dysfunction. This
promotes platelet adhesion and thrombosis and disturbs the normal
Page | 648

modulation of vascular tone, further amplifying the response. Normal
pregnancy is a state of systemic inflammation. In normal pregnancy there
is leucocytosis and an increase in leucocyte activation. Women with pre-
eclampsia seem to exaggerate this response. Other systemic metabolic
changes associated with pre-eclampsia include hypertriglyceridaemia and
a significant increase in free fatty acids. Many of the fetus of the second
phase are a result of reduced organ perfusion caused by vasoconstriction,
activation of the coagulation system and reduction of plasma volume.

Normal pregnancy is associated with an increase in angiotensin 2 levels, a
potent vasoconstrictor. Despite this, in pregnancy, peripheral vascular
resistance falls due to resistance to AT2, a phenomena that seems to be
lost in those with PIH and pre-eclampsia. Additionally, in pregnancy,
prostacyclin and thromboxane usually increase in proportion to each other
but with pre-eclampsia there seems to be a relative deficiency of
prostacyclin leading to vasoconstriction.

Screening and detection

Pre-eclampsia is an unpredictable condition and extremely variable in its
manner of presentation. The aim of screening is to detect it earlier
enough to half its progression. Risk factors are usually identified at
booking. Signs and symptoms that may indicate pre-eclampsia/PIH
include:
Unusual headaches, typically frontal
Visual disturbances
Restlessness/agitation
Epigastric pain, nausea and vomiting
Sudden severe hypertension and proteinuria
Fluid retention with reduced urine output
Hyperreflexia or ankle clonus
Retinal oedema, haemorrhages or papilloedema

Management of hypertension without proteinuria

If the BP is found to be elevated then measurements should be repeated
at 10-20 minutes. If elevated then further investigations are needed,
usually in an antenatal day care unit. The women should be asked about
the symptoms above and an ultrasound scan can be used to assess fetal
size, amniotic fluid volume and fetal umbilical artery waveform. Serum
urate (rises in pre-eclampsia), U&Es, liver enzymes and platelets (which
fall with pre-eclampsia) should be checked.

In the absence of severe hypertension (160/110), significant proteinuria
or symptoms of pre-eclampsia, and if the biochemistry and
haematological results are normal, then the woman can be managed as
an outpatient. She should be seen two weekly for BP and urinalysis. The
Page | 649

woman must return if she feels unwell or has a headache, visual
disturbances or epigastric pain. Treatment with antihypertensives controls
the hypertension but does not alter the course of the pre-eclampsia.
Treatment may allow prolongation of pregnancy and improve fetal
outcome.

Clinical management of pre-eclampsia

In a lady with pre-eclampsia it is important to consider the overall picture.
Indications for admission to hospital include:
BP >170/110mmHg or >140/90mmHg with 2+ proteinuria
Significant symptoms listed above
Abnormal biochemistry or haematology results
Significant proteinuria
The need for antihypertensives
Signs of fetal compromise
The aim should be to prolong the pregnancy to reduce the risk to the
baby but this must be balanced against the risk to the mother. There are
usually fetal advantages to conservative management before 34 weeks if
the BP, laboratory values and fetal condition are stable. The principles of
management of pre-eclampsia are:
To control maternal BP, reducing the DBP to <100mmHg using
labetalol, nifedipine, hydralazine or methyldopa
To assess maternal fluid balance. Pre-eclampsia is association with
an increase in vascular permeability and a reduced intravascular
compartment. Too few fluids can lead to renal failure whilst too
much may cause pulmonary oedema. In severe pre-eclampsia the
oxygen saturations need to be monitored along with serum U&Es,
urate, LFTs, haemoglobin, haematocrit, platelets and coagulation. If
there is marked oliguria then CVP monitoring can be helpful to
differentiate intravascular fluid depletion from renal failure.
To prevent seizures (eclampsia). The use of magnesium sulphate in
severe pre-eclampsia halves the risk of subsequent eclampsia, and
may reduce the risk of maternal death. If given to those who have
had seizures then it can prevent further ones.
To consider delivery. The timing depends on maternal condition, the
fetal condition and the gestational age. If preterm delivery is being
considered, corticosteroids should be administered to the mother to
reduce the risks associated with prematurity.

Management of eclampsia this is where there is a tonic-clonic
convulsion in association with the features of pre-eclampsia. In the UK
the incidence is 4.9/10,000 maternities with 38% of seizures occurring
antepartum, 18% intrapartum and 44% postpartum. Over 1/3 occur
before proteinuria and hypertension have been documented. The
maternal mortality in the UK is 1.8% with neonatal death rates of
34/1000. During eclampsia the patient should but put on their left side to
Page | 650

avoid aortocaval compression and given high flow oxygen. Magnesium
sulphate is given IV but tendon reflexes need to be checked regularly as
this can lead to neuromuscular toxicity (affects patella reflex before
lungs).

Prevention low dose aspirin and calcium supplementation appear to be
of value but little else is. Aspirin inhibits prostaglandin synthesis and
thromboxane. As thromboxane is affected first only a low dose of aspirin
is used to reduce the prothrombotic effects whilst preserving
prostaglandin. This can lead to a 15% reduction in the incidence of pre-
eclampsia. It should be offered to those at high risk and given before 12
weeks gestation. Calcium supplementation may reduce the risk of
hypertension by up to 30% and pre-eclampsia by 50%. Restricting salt,
weight gain, increasing protein and taking vitamin C and E are of no
proven benefit.

HELLP syndrome haemolysis, elevated liver enzymes and low platelets.
This is a variant of pre-eclampsia and is more common in multiparous
women. These women may present with epigastric pain, nausea and
vomiting, and right upper quadrant pain. AST rises first, followed by
lactate dehydrogenase. Platelet transfusion is only rarely helpful. HELLP
syndrome is also associated with acute renal failure and DIC and there is
an increased incidence of placental abruption. The management is to
stabilise the mother, correct any coagulation disorders, assess fetal
wellbeing and assess the need for delivery. Vigilance is requires for 48
hours postpartum as deterioration may occur. The risk of recurrence is
roughly 20%.

Chapter 35 Prematurity

Prematurity is defined as delivery between 24 and 37 weeks gestation
and occurs in 6-10% of births. Preterm labour is associated with multiple
pregnancy, antepartum haemorrhage, fetal growth restriction, cervical
incompetence, amnionitis, congenital uterine anomaly, polyhydramnios
and systemic infection but most oftenly there is no apparent predisposing
cause. Almost a third of preterm births in the UK are iatrogenic following
deliberate intervention when the risk of continuing the pregnancy for
either the mother or the fetus outweighs the risk of prematurity.
Morbidity and mortality rates are inversely proportional to the maturity of
organ systems, especially the lungs, brain and GI tract and it is
exceptional to survive if born before 24 weeks. Of the infants who survive
prematurity, up to 10% will have some form of long term handicap.

Definitions

Page | 651

Preterm a gestation of less than 37 completed weeks
Very preterm a gestation of less than 32 completed weeks
Preterm labour regular uterine contractions accompanied by
effacement and dilatation of the cervix after 20 weeks and before
37 completed weeks
Preterm pre-labour rupture of the membranes PPROM is rupture
of the fetal membranes before 37 completed weeks and before the
onset of labour
Low birth weight birth weight of less than 2501g. It is important
to note that low-birth-weight infants may be preterm or growth
restricted or both
Very low birth weight birth weight of less than 1501g
Extremely low birth weight birth weight of less than 1000g

Approximately 1.5% of preterm births will deliver before 32 weeks and
only 0.5% before 28 weeks yet this latter group is responsible for 2/3
neonatal deaths. The factors that trigger spontaneous preterm labour are
largely unknown but may be mediated through cytokines and
prostaglandins. Infection has been implicated and it may be that bacterial
toxins initiate an inflammatory process in the chorioamniotic membranes,
which in turn release prostaglandins.

Identifying those at risk

There are a number of strategies involve here and they include clinical
risk scoring, bacteriological assessment of the vagina, cervical
assessment and the measurement of fetal fibronectin (Ffn). The risk
scoring is based on the maternal obstetric, gynaecological and medical
histories together with smoking status, body weight and socioeconomic
status. The strongest of these factors is previous preterm birth. Other
associations include congenital abnormality, bleeding in the first/second
trimester, antepartum haemorrhage, placenta praevia, intrauterine
infection, PPROM, IUGR, polyhydramnios, pre-eclampsia, severe maternal
disease, UTI and bacterial vaginosis.

Screening for and treating vaginal infections has given conflicting results.
Bacterial vaginosis doubles the risk of preterm labour for example but this
is a fivefold increase in if the first trimester. However trials have shown
that treatment has no effect on outcome. Transvaginal examination of the
cervix is now a focus of research. A normal length is between 34 and
40mm with no funnelling at the internal os. A length of less than 15mm at
23 weeks occurs in <2% of pregnancies but accounts for 90% of those
who deliver before 28 weeks. The risk of 78% if less than 5mm. Fetal
fibronectin is involved in maintaining the integrity of the choroidecidual
extracellular matrix and is not usually detectable in cervical secretions
after 20 weeks. Its presence at 23 weeks predicts 60% of spontaneous
preterm births at <28 weeks.
Page | 652

Prevention

Antibiotics evidence suggests that screening for and treating
asymptomatic bacteriuria reduces the risk of preterm labour. Evidence for
the screening and treatment of vaginal organisms is more controversial,
possibly due to intrauterine colonisation already being established and
therefore not susceptible to intervention.

Progesterone these supplements may reduce the risk of preterm labour.
Potential mechanisms include oxytocin antagonism, maintenance of
cervical integrity and anti-inflammatory effects. It is administered IM or
vaginally and is started around 29 weeks.

Cervical cerclage there is some evidence that performing this early in
the second trimester is of benefit in those who have a history of cervical
incompetence. A purse string suture is done internally around the cervix
under anaesthesia and removed electively after 38 weeks or as an
emergency if labour establishes before that time. This procedure can also
be used as rescue therapy in early preterm labour.

Diagnosis and management of preterm labour

Preterm labour is regular painful contractions associated with progressive
cervical dilatation. Diagnosis can be difficult at the early stages as painful
contractions may not progress to established labour. Labour can also be
insidious, herald by a show or bleeding or abruption. A negative Ffn test
will mean <1% of women will deliver within the week. Maternal wellbeing
should be assessed by seeking evidence of haemorrhage or infection. The
white cell count and CRP may be raised and vaginal swabs plus urine
should be sent for culture.

The fetus can be assessed by CTG and then ideally ultrasound to evaluate
liquor volume, presentation, placental site and any evidence of fetal
abnormality. Corticosteroids should be given before 36 weeks if birth is
considered likely as these stimulate surfactant production. This also
decreases the risk of necrotising enterocolitis and periventricular
haemorrhage. There is no increased risk of infection but steroids should
be avoided in maternal sepsis. Caution should be used with IDDM as it
may trigger ketoacidosis. In preterm labour intrapartum antibiotic therapy
is recommended to reduce the transmission of group B strep. If there is
pyrexia then a broad spectrum antibiotic is needed.

Inhibition of preterm labour

An attempt can be made to stop labour at gestations of less than 33
weeks. The use of drugs to suppress uterine activity (tocolytics), will
Page | 653

generate a delay of between 24 and 48 hours which can allow for steroid
administration and in-utero transfer. If there is abruption, bleeding or
infection then delivery may be needed. Contraindications include IUGR,
pre-eclampsia, significant vaginal bleeding, fetal death, lethal congenital
abnormality, chorioamnionitis and significant fetal distress. A wide variety
of drugs can be used and these include calcium channel blockers, cyclo-
oxygenase inhibitor, an oxytocin antagonist and beta-sympathomimetics.

Calcium-channel blockers

Nifedipine is a calcium channel blockers and has been shown to reduce
the number of women delivering within 7 days of presentation and also
reduced perinatal morbidity. Side effects include dizziness, flushing and
headache, all due to peripheral vasodilation.

Cyclo-oxygenase inhibitors

These reduce prostaglandin production and have been shown to delay
labour by 48 hours. It can however lead to GI irritation,
thrombocytopenia, allergic reactions, headaches and dizziness but the
main risks are to the fetus. This is because prostaglandins maintain the
patency of the ductus arteriosus. These can also reduce fetal urine output
and lead to reduced liquor volumes.

Oxytocin antagonist

Leads to inhibition of intracellular calcium release. Side effects are nausea
and vomiting and it is not superior to beta-sympathomimetics.

Beta-sympathomimetics

Ritodrine and Salbutamol cause stimulation of beta-2-adrenergic
receptors on myometrial cell membranes. This leads to a reduction in
intracellular calcium concentrations and inhibition of the actin-myosin
interaction necessary for smooth muscle contraction. An IV infusion can
postpone deliveries by up to 48 hours. As these drugs stimulate the
sympathetic nervous system side effects are common and include
maternal (and fetal) tachycardia, visual disturbances, skin flushing,
nausea, vomiting, hyperkalaemia, hyperglycaemia, pulmonary oedema,
hypotension and arrhythmias. Calcium channel blockers would be used
before considering these drugs.

Delivery

If labour continues then close monitoring is important as a preterm fetus
is more susceptible to intrapartum hypoxia and acidosis. Complications
such as abnormal lie, cord prolapse, abruption and intrauterine infection
Page | 654

are also more common. The mode of delivery also needs some
consideration. Whilst c-section may be indicated for an apparently
compromised fetus, there is no evidence to support any better outcome.
In fact a c-section may lead to significant fetal trauma. Preterm cephalic
presenting babies should be born vaginally and the same goes for breech
babies under 26 weeks, with those above that gestation being born by c-
section.

Preterm pre-labour rupture of the membranes (PPROM)

This occurs in 2-3% of pregnancies but in 20-50% of all spontaneous
preterm deliveries and is more likely with polyhydramnios, twins and
vaginal infection. If the mother does not establish in labour then the
problem is one of balancing the risks of chorioamnionitis with attendant
maternal and fetal morbidity against the risks of prematurity. The
neonatal outcome if poorer the earlier membranes rupture, leading to
pulmonary hypoplasia and severe skeletal deformities due to the absence
of amniotic fluid. After 24 weeks only 3% of infants will develop
pulmonary hypoplasia if there is PPROM. Chorioamnionitis is potentially
extremely serious for both mother and baby as both may develop
overwhelming septicaemia. Infection can occur after the membranes
rupture in between 0.5% and 25% of cases and is more likely if a vaginal
examination has been performed. A VE is hence contraindicated unless
labour is suspected. This diagnosis is suggested by maternal pyrexia,
abdominal pain, uterine tenderness and a raised WBC count. There may
also be a proven vaginal or urinary tract infection.

Management of PPROM

Most mothers will establish in labour with around 75% of those at 28
weeks gestation delivering within 7 days. There is little evidence that
tocolysis is beneficial. For those who do not establish in labour regular
monitoring is needed and can be managed as an outpatient after an initial
inpatient review. The woman is advised to take her temperature 4 times a
day. Delivery around 34-35 weeks strikes the appropriate balance
between maturity and risk of chorioamnionitis. As there is such a high risk
of delivery corticosteroids should be given if PPROM occurs at less than 36
weeks. Prophylactic erythromycin has also been shown to improve fetal
outcome.

Chapter 36 Multiple pregnancy

The natural incidence of twinning has a large geographical variation
ranging from 54/1000 in Nigeria to 4/1000 in Japan (UK is 12/1000). The
difference is almost entirely due to the variation in the rate of non-
identical twins whilst the incidence of identical twins remains remarkably
Page | 655

constant at around 3/1000. In developed countries the incidence of twins
is actually slightly higher due to modern fertilisation techniques. Around
25% of twin pregnancies, 50-60% of triplet pregnancies and 75% of
quadruplet pregnancies are as a result of assisted reproduction
techniques.

Overall the perinatal mortality in twin pregnancies is four to five times
higher than for a singleton pregnancy, largely because of preterm
delivery, fetal growth restriction, twin-twin transfusion syndrome and a
slightly increased incidence of congenital malformations. Perinatal
mortality rates rise exponentially with fetal number in higher-order
pregnancies. The outcome of any pregnancy is also significantly affected
by its chorionicity.

Dizygotic twinning accounts for about 70% of twins and is the process
where two ova are fertilised and implant separately into the decidua. Each
developing embryo with form its own outer chorion (chorionic membrane
and placenta) and its own inner amniotic membrane. Dizygotic twins are
described as dichorionic and diamniotic.

Monozygotic twinning 30% of twins are derived from the splitting of a
single embryo, and the exact configuration of placentation depends on the
age of the embryo when the split occurs. A split that occurs at or before
the eight cell stage (3 days post fertilisation) will occur before the outer
chorion has differentiated and will therefore give rise to two separate
embryos that will each proceed to form their own chorion. These twin
pregnancies, like dizygotic twins, will therefore be diamniotic and
dichorionic. Embryo-splitting at the blastocyst stage (4-8 days post
fertilisation) will occur after the chorion has started to differentiate and
therefore the fetuses will share an out chorion. This is the most common
form of monozygotic twinning. Finally division of the embryo at between 8
and 14 days will result in the inner amniotic cavity and membrane being
shared (monochorionic, monoamniotic). Splitting beyond 14 days is
extremely rare and gives rise to conjoined twins.

In monochorionic twins the shared placenta means there are a number of
vascular anastomoses between the two fetal-placenta circulations. The
number and nature of these places monochorionic twins at risk of specific
complications and at increased risk of perinatal loss and morbidity.
Chorionicity is best determined in the first or early second trimester by
ultrasound.

Maternal complications

The incidence of these increases with multiple pregnancy. The problems
are:

Page | 656

Hyperemesis the increases placental mass means an increased quantity
of hCG and hence an increased and early incidence of hyperemesis.

Anaemia there is a slight increase in the incidence of anaemia which is
not completely explained by the haemodilution effect of the increased
plasma volume. The extra iron and folate requirement may justify routine
supplementation.

Antepartum haemorrhage placenta praevia is more common as a result
of the larger placental surface. The management is similar to that of a
single pregnancy. Placental abruption also appears to be more common.

Pre-eclampsia this incidence in twin pregnancies is three to four times
higher, tends to develop earlier and is more severe. The mother is also at
increased risk of gestational diabetes, general discomfort, varicose veins
and dependent oedema, delivery trauma, c-section, PPH and
breastfeeding challenges.

Fetal complications

Structural defects the incidence of structural fetal anomalies is no
different per fetus in a dichorionic pregnancy compared to a singleton
pregnancy but it is a 2-3 fold greater risk for monochorionicity. This risk is
then doubled as there are two fetuses. In monochorionic twins it is
thought the embryo division is the process which is inherently
teratogenic. Characteristic anomalies include cardiac defects, neural tube
deformities and other CNS defects, and GI atresia. It is important to offer
all those with multiple pregnancy a mid trimester scan. The anomalies are
usually confined to one twin and the other twin is normal in 85-90% of
cases. Selective termination with intracardiac KCl is possible in dichorionic
pregnancies only and is most safely carried out before 16-20 weeks. The
procedure however does carry a 5% risk of miscarriage of both twins. In
monochorionic twins specialised cord occlusion techniques may be
considered but carry an increased risk of loss to the other twin due to the
increased invasiveness of this procedure.

Chromosomal abnormalities

These are usually discordant in Dizygotic twins and almost always
concordant in monozygotic twins. The maternal age related risk for
carrying a fetus with Down syndrome is therefore approximately double in
dichorionic twin pregnancies. Maternal serum screening for trisomy 21
also performs poorly in twins so NT needs to be measured. If
amniocentesis is done then careful documentation is needed for which
sample corresponds to which sac. CV sampling is difficult as it is hard to
be certain that both placentas have been sampled.

Page | 657

Premature birth

Twins typically deliver by 37-38 weeks and triplets by 32-34 weeks
gestation. Twins account for 25% of all premature births despite making
up only 2% of births each year. Preterm delivery is higher in
monochorionic compared to dichorionic twins. Increased uterine
distension, early myometrial contractility and TTTS may be causative
factors. At present there is no known treatment so women are
encouraged to present early for corticosteroid treatment.

IUGR twins typically follow singleton size charts until 28-30 weeks and
then growth slows. Approximately 30% of twins are SGA according to a
singleton chart and a significant growth difference between twins is seen
in 12% of pregnancies. Placental dysfunction underlies IUGR. Abdominal
palpation is not a reliable method to monitor growth with twins. If IUGR is
diagnosed the increased surveillance is needed which include CTG and
umbilical artery Doppler. Monochorionic twins are at a higher risk of IUGR
and require a lower threshold for delivering due to the poorer prognosis if
one of these twins dies in utero.

Twins with one fetal death

First trimester intrauterine death in a twin has not been sown to adversely
affect the survivor. This also holds true for the early second trimester but
loss any later commonly precipitates labour such that 90% will have
delivered both twins within 3 weeks of the loss. Prognosis for a dichorionic
fetus is then influenced primarily by its gestational age. When a
monochorionic twin dies in utero there are additional risk factors of death
(20%) or cerebral damage (25%) in the co-twin as a result of the shared
fetal circulation and ensuing acute hypotension. Early delivery of the
surviving twin is unlikely to improve survival.

Antenatal problems specific to monochorionic twin pregnancies

Twin to twin transfusion syndrome (TTTS) this complicated 10-15% of
monochorionic multiple pregnancies and accounts for around 15% of
perinatal mortality in twins. In this condition there is a new blood flow
from one twin to the other through arterial to venous anastomoses in the
shared placenta. The circulation of the recipient becomes hyperdynamic
with the risk of high output cardiac failure and polyhydramnios.
Conversely the donor develops oligohydramnios and often suffers growth
restriction. Without treatment over 80% of pregnancies will be lost. Two
interventions have proven useful:
Serial amniodrainage 50% survival
Laser ablation of causative placental vascular anastomoses 70%
survival
Page | 658

Laser therapy is also associated with a lower rate of significant
neurological morbidity in surviving twins compared to amnioreduction.

Monoamniotic twins twins occupying the same amniotic sac are at risk
of cord entanglement in utero. Frequent CTG monitoring is required once
they reach viability and delivery is indicated if cord compression is
diagnosed. Delivery is otherwise electively planned for 32 weeks
gestation. Delivery should be by caesarean section as the risk of a cord
accident is particularly high.

Twin reversed arterial perfusion sequence If the heart of one of the
twins stops then it may continue to be perfused by the surviving twin if
large arterial-to-arterial anastomoses exist. The dead twin undergoes
atrophy of its upper body and heat due to the especially poor blood
supply of these tissues. This is rare but carries a high rate of mortality in
the donor twin due to intrauterine cardiac failure and prematurity.

Management of pregnancy

Initial visit as many as 10% of twin pregnancies diagnosed in the first
trimester will proceed only as singleton pregnancies and parents need to
be made aware of this. It is important to ensure the chorionicity has been
established at the first scan as it becomes increasingly difficult to do so
with advancing gestation. It may also be worth starting iron and folate
supplementation at this stage.

Subsequent visits these are ideally performed at dedicated twin clinics
and timed to coincide with ultrasound assessments. The schedule
depends on whether they are monochorionic or dichorionic. Monochorionic
twins will require greater monitoring which include every 2 weeks from
16-24 weeks, a structural scan at 18 weeks, a cardiac scan at 20-22
weeks and every 2 weeks from 24 weeks to term. Dichorionic twins only
require a detailed structural survey at 18 weeks and follow up every 2-4
weeks from 24 weeks to term.

The mother needs to be monitored for complications such as pre-
eclampsia and anaemia. A discussion about the risks and management of
premature delivery are needed. In an uncomplicated pregnancy there is
usually a discussion around 32 weeks about the mode of delivery.

Management of twin delivery the presentations at term are typically
40% cephalic/cephalic, 40% cephalic/breech, 10% breech/cephalic and
10% others e.g. transverse. It is common to induce labour at 38-40
weeks in those who are suitable for vaginal delivery and to carry out a c-
section at 38 weeks in those who are not. With twins, providing the first
twin is cephalic, evidence would suggest a vaginal birth to be appropriate.
Significant growth discordance or prematurity may be an indication for c-
Page | 659

section. The first stage of labour is managed as normal with appropriate
CTG monitoring, best achieved with one fetal scalp electrode and the
other monitored abdominally. At delivery an experienced obstetrician, an
anaesthetist, two paediatricians and two midwives should be present. A
Syntocinon infusion should be ready in case uterine activity decreases
after delivery of the first twin. It is often useful to have someone stabilise
the lie of the second twin to longitudinal, by abdominal palpation, whilst a
VE is performed to assess the presenting part. The membranes of the
second twin should not be broken until descent into the pelvis has
occurred. A maternal epidural is useful in the management of twins owing
to the increased risk of obstetric intervention, particularly assisted
delivery.

Triplets and higher multiples

In these cases the perinatal mortality rate is high, mostly due to
premature labour and hence it may be appropriate to discuss decreasing
the number of fetuses to twins at 12-14 weeks gestation. This increases
the chance of survival, particularly with quadruplets or higher. Triplets
and higher order multiple pregnancies require intensive antenatal
monitoring and should be delivered by c-section.

Chapter 37 Fetal haemolytic disease

Fetal haemolytic disease is likely to occur when maternal antibodies
develop against fetal red blood cells. Red cells not infrequently cross from
the fetus to the mother either antenatally or at some intrapartum event
and, if they are antigenically different from the mothers red cells, there
may be a maternal immune response with antibody production. IgG
antibodies may cross in the opposite direction, back to the fetus, leading
to haemolysis, anaemia, high output cardiac failure and fetal death. There
are numerous known red cell antigens but the rhesus D antigen accounts
for approximately 85% of haemolytic disease.

If the mother is ABO group O and the father is A or B then the mother
may mount an immune response to this but it is rare and investigation is
not needed. The rhesus system comprises of over 40 antigens but
primarily C, D and E. Those who inherit D, which is autosomal dominant,
are referred to as rhesus positive. If a mother is rhesus negative and has
a rhesus positive baby then she may become sensitised to the D antigen
and attack future pregnancies. There are several other systems of
antigens but are generally poorly developed and hence only evoke a mild
immune reaction. A noticeable exception is the anti-Kell antibody which
causes fetal bone marrow aplasia rather than haemolytic disease and is
therefore much more complex to manage.

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Incidence

In the UK 17% of the population are rhesus negative and, assuming
random mating without intervention, around 2/3 rhesus negative mothers
would expect to carry a rhesus positive fetus. Approximately 10% of
pregnant women are therefore at risk of developing anti-D antibodies.
Since the use of prophylactic anti-D the perinatal mortality from
haemolytic disease has fallen from 46/100,000 to 1.9/100,000.

Aetiology and predisposing factors

Transfer of fetal erythrocytes to the maternal circulation during pregnancy
may occur without an obvious predisposing event and about 75% of
women may be found to have fetal red cells circulating at some stage
during the pregnancy or delivery. Fetomaternal haemorrhage is more
likely, however, with disruption of the placental bed and this can occur
with:
Miscarriage and ectopic pregnancy
Invasive intrauterine procedures
ECV
Abdominal trauma
Labour and delivery, particularly with placental delivery

An immune response may follow this but this depends on the volume of
blood, its antigenic potential and on the maternal responsiveness. ABO
incompatibility may paradoxically offer some protection as the transfused
cells are likely to be haemolysed by circulating maternal antibodies,
reducing the risk of immunisation. This indicates the clear need for anti-D.

Pathophysiology

Initial exposure leads to a small antigen-specific antibody response,
largely of IgM which does not cross the placenta. On subsequent exposure
(2
nd
pregnancy for example) the already primed B cells produce a much
larger response, this time with IgG which does cross the placenta. In the
fetal circulation it forms an antibody-antigen complex on the red cell
membrane which provokes phagocytosis of the cell by the
reticuloendothelial system and results in a reduction in fetal red cell
numbers. This will lead to anaemia unless there is sufficient compensatory
haemopoiesis from the marrow, spleen and liver. Increasing anaemia
causes progressive fetal hypoxia and acidosis leading to hepatic and
cardiac dysfunction. Generalised oedema of skin develops, as well as
ascites, a pericardial effusion and pleural effusions. This syndrome is
known as hydrops fetalis and it may be fatal.

Page | 661

With haemolysis there is also an increased proportion of bilirubin, most of
which passes to the mother and is cleared. The fetus hence does not
become jaundiced antenatally but after delivery its liver is unable to cope
and bilirubin quickly rises. If untreated this can cause kernicterus.

Prevention

The most effective treatment is intramuscular anti-D to provide passive
immunisation of a non-sensitised woman around the time of exposure. A
rhesus negative woman who has a potentially sensitising event before 20
weeks should be given 250IU ASAP and certainly within 72 hours. At
more than 20 weeks the dose is 500IU. At delivery a fetal cord sample
should be rhesus grouped and, if positive, a film made of the mothers
blood for Kleihauer testing. This estimates the volume of fetomaternal
transfer and allows an appropriate dose of anti-D to be calculated. As
immunisation can occur silently it makes sense to routinely immunisation
all women in the third trimester. This is standard practice in most areas.


Clinical symptoms and signs of fetal haemolytic anaemia occur late, are
easily missed and are of little help in management. In advanced disease
fetal movements may become feeble or even absent and there may be
fetal growth restriction. Polyhydramnios, associated with fetal hydrops,
may be detected. Usually however this is detected by routine screening.
All pregnancy women at their first visit have serum sent for ABO and
Rhesus D grouping with screening for irregular antibodies. The maternal
serum level of any antibody discovered is used as an initial screening test
for further action.

Fetal assessment

This includes middle cerebral artery Doppler to check for the need for
intrauterine transfusion.

Clinical significance of the antibody

The chance of significant problems is only substantial when over 15 IU/ml
are detected of anti-D. A sudden rise in level is also likely to be
significant.

Non-invasive testing

Historically serial amniocentesis and measurement of amniotic fluid
bilirubin levels was the method of assessing at risk pregnancies. However
this has been superseded by non-invasive middle cerebral artery Doppler
studies. A hyperkinetic circulation correlates very well with the degree of
Page | 662

fetal anaemia and can be used to predict the requirement of future
therapy. CTG is also used and may reveal unreactive patterns or even
decelerations but this is in advanced disease. A reported reduction in fetal
movements is also a sign of fetal anaemia. If there are abnormal
parameters then fetal blood sampling may be indicated.

Fetal blood sampling

A needle is inserted into the babys cord at its point of insertion into the
placenta and enables immediate haemoglobin estimation to be made. It
also provides a route for blood to be transfused in utero. Group O rhesus
negative blood is cross-matched to the mothers own serum prior to the
procedure and, if the haemoglobin is low, a calculated volume may be
transfused. This carries the risk of cord haematomas, fetal bradycardia
and intrauterine death as well as further sensitisation of the mother.

Delivery

All babies with haemolytic disease need to be delivered in a special unit
with full neonatal intensive care facilities. If premature delivery is
anticipated the maternal corticosteroid therapy is indicated. Babies with
mild anaemia can be delivered vaginally. For cases managed with IUT
there is induction at 35 weeks. If a hydropic fetus requires delivery this
should be by c-section. Experienced paediatricians are vital and cord
gases should be taken at birth to check for haemoglobin, platelets, blood
grouping, bilirubin and direct Coombs testing. The neonate may require
intensive support.

Prognosis

For mildly affected fetuses in whom IUT is unnecessary, the outlook in
experienced units is excellent. Survival rates for non-hydropic fetuses
undergoing IUT are 90% compared to 75% if hydrops is present.

Long term sequelae

Early reports suggest serious neurological impairments including CP,
abnormal development and hearing problems, especially in those who
were transfused. Recent experience is more reassuring and suggests few,
if any, addition risks beyond the hazards of prematurity.

Chapter 38 Labour

Primigravid compared to multigravid labour there is a considerable
difference between the labours of these two groups. A successful well-
Page | 663

managed vaginal delivery first time around usually leads to subsequent
deliveries being relatively uneventful. Conversely a poorly managed first
labour can add to subsequent obstetric problems, and have emotional
ramifications far beyond any obstetrical complications that may have
occurred. The main differences between first time and previous deliveries
are:
Primigravida
a unique psychological experience
inefficient uterine action is common and therefore labour is longer
The functional capacity of the pelvis is not known cephalopelvic
disproportion is a possibility
Serious injury to the child is relatively more common, as is the use
of instruments
The uterus is virtually immune to rupture
Multigravida
Uterine action is efficient and genital tract stretches more easily,
therefore labour is shorter
Cephalopelvic disproportion is rare
Serious injury to the child is rare and the risk of maternal injury
during birth is less
There is a small risk of uterine rupture, particularly if there is a pre-
existing caesarean section scar

The uterus during pregnancy

The uterus is a thick walled hollow organ, normally located in the lower
pelvis in the non-pregnant state. The smooth muscle fibres undergo
hypertrophy and hyperplasia (to a less extent) during pregnancy. From
early pregnancy onwards the uterus contracts intermittently and the
frequency and amplitude of these increases as labour approaches. These
Braxton Hicks contractions are irregular, low frequency and high
amplitude in character and are only occasionally painful. Intensity is
maximal at the fundus where the muscle is thickest and least at the lower
segment.

Initiation of labour

In humans the precise trigger mechanism of labour remains unclear. It
seems that there is a balance between pro-pregnancy and pro-labour
factors. Labour may be triggered when the pro-pregnancy factors become
overwhelmed by increasing levels of pro-labour factors although why this
should occur is uncertain.

Pro-pregnancy factors

These include progesterone, nitric oxide, catecholamines and relaxin.
Progesterone is derived from the corpus luteum for the first 8 weeks or so
Page | 664

of pregnancy and thereafter from the placenta. It has the direct effect of
decreasing uterine oxytocin receptor sensitivity and therefore promotes
uterine smooth muscle relaxation. It clearly plays a key part in pregnancy
as the progesterone antagonist Mifepristone increases myometrial
contractility and has been successfully used to induce labour. Some
studies have observed that a fall in nitric oxide synthetase activity occurs
as pregnancy advances. Catecholamines act directly on the myometrial
cell membrane to alter contractility and beta-sympathomimetics are used
a tocolytics to suppress preterm labour.

Pro-labour factors

These include oestrogens, oxytocin, prostaglandins, prostaglandin
dehydrogenase and inflammatory mediators. Oxytocin, a nonapeptide
from the posterior pituitary is a potent stimulator of uterine contractility.
Circulating levels however do not change towards labour. Oestrogens
levels do increase and this increases oxytocin receptor expression within
the uterus. Prostaglandin levels are increased prior to the onset of labour
and are synthesised from arachidonic acid by cyclo-oxygenase enzymes in
the fetal membranes. These double around the time of pregnancy.
Prostaglandins promote cervical ripening and stimulate uterine
contractility both directly and by upregulation of oxytocin receptors.

Hypothesis

A proposed mechanism for the onset of labour is that the uterus is under
strong initial progesterone suppression but the rising oestrogen and CRH
concentrations activate cell surface receptors and COX-2 activity. This
increased myometrial activity is further promoted by an inflammatory
reaction in both the myometrium and the cervix, a process which
promotes cervical ripening. The timing may hence be determined b when
oestrogen or CRH concentrations reach a sufficient level to overcome pro-
pregnancy suppression.

Mechanisms of normal labour

The mechanism of labour involves effacement and then dilatation of the
cervix, followed by expulsion of the fetus by uterine contraction. The
lower part of the uterus is anchored to the pelvis by the transverse
cervical (cardinal) ligaments as well as the uterosacral ligaments, allowing
the shortening uterine muscle to drive the fetus downwards.
Prostaglandins increase cervical ripening by inhibiting collagen synthesis
and stimulating collagenase activity to break down the collagen.

The fetus then needs to traverse the pelvis. The widest two points of the
fetus are the head in the anteroposterior plane and the shoulders,
laterally from one shoulder tip to the other. The head rotates from a
Page | 665

lateral position at the pelvic brim to the anteroposterior position at the
outlet. This rotation has the advantage that by the time the head is
delivering through the outlet, the shoulders will be entering the inlet in
the transverse position, maximising the chance of successful delivery. The
position of the head is described as the position of the occiput in relation
to the mothers pelvis. The head usually enters the pelvic brim in either
the right or left occipitotransverse position. The contracting uterus causes
the head to flex so that the minimum head diameter is presented for
delivery.

As the head descends it then reaches the ischial spines and this
encourages the head to rotate to the occipitoanterior or occasionally
occipitoposterior position. Once the head passes the ischial spines it
extends, distending the vulva until it is eventually delivered. Meanwhile at
the pelvic inlet the shoulders are now presenting in the transverse
position. They descend to the pelvic floor and rotate to the
anteroposterior position. By this time the head is completely delivered
and it is free to rotate back to the transverse position along with the
shoulders. The anterior shoulder can then be delivered with downwards
traction of the head and the posterior shoulder then by upwards traction.
The rest of the body usually follows without problem. The third stage of
labour is from the delivery of the baby until the delivery of the placenta.
The uterus contracts, shearing the placenta from the uterine wall, and
this separation is often indicated by a small rush of dark blood and a
lengthening of the cord. The placenta can then be delivered by gentle
cord tractions, but caution is required to avoid uterine inversion.

Summary

1. Head at pelvic brim in left or right occipitolateral position
2. Neck flexes so that the presenting diameter is small
3. Head descends and engages
4. Head reaches the pelvic floor and occiput rotates to occipitoanterior
5. Head delivers by extension
6. Descent continues and shoulders rotate into the anteroposterior
diameter of the pelvis
7. Head restitutes (comes into line with shoulders)
8. Anterior shoulder is delivered with lateral flexion from downward
pressure on the babys head. The posterior should is delivered after by
lateral flexion upwards.

Diagnosis of labour

This is important but surprisingly difficult. The presence of palpable
contractions does not necessarily mean that a woman is in labour, as
Braxton Hicks contractions are common antenatally. For a diagnosis of
labour there needs to be uterine contraction together with effacement and
Page | 666

dilatation of the cervix. Effacement has occurred when the entire length of
the cervical canal has been taken up into the lower segment of the
uterus, a process which begins at the internal os and proceeds
downwards to the external os. With primips dilatation will not begin until
effacement has occurred whereas, in multips this can occur
simultaneously. If there are regular contractions and a fully effaced
cervix, the woman can be said to be in labour. If not then a show or
SROM may give further evidence.

Pre-labour rupture of membranes

In 6-12% of labours the membranes will rupture prior to the onset of
uterine contractions or cervical dilatation. I VE is not usually indicated
here as this increases the risk of infection. If management is conservative
then 70% of mothers will establish in labour spontaneously by 24 hours
and 90% by 48 hours. This approach is appropriate if the mother is
apyrexial, the baby is cephalic, the liquor is clear and the monitoring is
normal. On the other hand there is evidence for the induction of labour
here as this may reduce the incidence of infection and chorioamnionitis
with no increase in rate of c-section.

Clinical progress in labour

Labour is divided into three stages of unequal length. There is no normal
time for the length of labour. The mean length of established labour (i.e.
from 4cm dilated with regular painful contractions) is 8 hours for primips
but can be up to 18 hours. The mean length for a second labour and
subsequent labours is 5.5 hours but up to 12 hours. Even after 40 hours
the chance of a vaginal delivery is up to 50%. Fetal distress is only partly
related to the length of labour and the highest incidence of c-section for
distress is in the first 30 minutes.

First stage Progress in the first stage is measured in terms of dilatation
of the cervix and descent of the fetal head. VEs should be performed
every 4 hours depending on progress. The average rate of dilation in a
primip is 1cm per hour but per hour is accepted. Descent of the fetal
head is measured by abdominal palpation and the amount of head above
the pelvic brim is recorded in fifths. If only 2/5 or less of the head is
palpable then the head is termed engaged. On VE the station of the fetal
head with respect to the ischial spines is recorded. The ischial spines are
designated zero. When the head is above the spines it is -1, -2, -3, -4cm
and when below it is +1, +2, +3cm etc. If the head is at the level of the
ischial spines then it must be engaged. It is also important to note the
position of the head on VE i.e. occipitotransverse, occipitoanterior or
occipitoposterior. Caput (oedema of the scalp) is measured as +, ++ or
+++ and moulding is classified in the same way.

Page | 667

Second stage this begins when the cervix is fully dilated and progress is
measured in terms of descent and rotation of the fetal head on VE. There
are two distinct phases:
The propulsive/passive phase this is from fully dilated until the
head reaches the pelvic floor. During this time the head is
occipitotransverse, the lower vagina is not stretched and the mother
has no urge to push.
The expulsive/active phase this begins when the fetal head
reaches the pelvic floor and the mother gets a strong desire to
push. With pushing the head usually delivers, normally in the
occipitoanterior position. From then on the head restitutes and the
birth attendant delivers the shoulders as previously mentioned. At
the point oxytocic is injected IM into the mothers thigh to
encourage prolonged uterine contraction and this minimises the
chance of PPH. The umbilical cord is clamped at both ends and cut.
If the baby does not need resuscitation then skin to skin should be
offered.

Third stage active management is recommended to reduce the risk of
PPH. This involves the use of oxytocics and gentle cord traction. Whilst
giving gentle cord traction the other hand should be guarding the fundus
of the uterus to prevent inversion. Once the placenta is almost out it
should be twisted gently to allow membrane separation. The uterus
should then be rubbed abdominally to ensure it is well contracted. The
labia, vaginal and perineum are inspected for tears and sutured for
bleeding. Finally the placenta is examined to check it is complete. The
normal blood loss at delivery is 300ml and the use of oxytocics helps
reduce PPH by 60%.

Episiotomies and perineal tears

It was once thought that an episiotomy reduced the incidence of anal
sphincter tears but there is now little evidence to support this and hence a
routine episiotomy to prevent 3
rd
and 4
th
degree tears should not be done.
Midline episiotomies are particularly bad for protecting against perineal
damage and may even impair anal continence. If one has to be performed
then a right posterolateral episiotomy is preferred. Possible indications for
an episiotomy include:
A rigid perineum which is preventing delivery
If a large tear is imminent
With most instrumental deliveries
Should dystocia
Vaginal breech delivery

Prior to an episiotomy local anaesthetic is injected into the subcutaneous
tissues of the perineum and vagina (unless a block is being used). A right
mediolateral cut is made and pressure on the fetal head is maintained so
Page | 668

that delivery is slow and the head remains flexed, minimising the
possibility of the incision extending. Spontaneous tears can be divided
into 4 types. An episiotomy is a second degree tear. Anterior perineum
trauma is classified as any injury to the labia, anterior vagina, urethra or
clitoris and is described as such.

First degree vaginal epithelium and vulva skin
Second degree perineal muscles but not anal sphincter
Third degree perineum and involving the anal sphincter complex
Fourth degree perineum involving the anal sphincter complex and
anal/rectal mucosa

Repair of episiotomies and perineal tears

Repair should be with an absorbable synthetic material using a continuous
subcuticular technique to minimise short and long term problems. With a
first or second degree tear repair a local anaesthetic is injected. The apex
of the vaginal incision or tear is identified and the first suture is placed
just above this level. A continuous locking suture is used to close the
vaginal wall until the hymeneal edges are opposed. The suture can then
be tied, or simply locked, and the needle threaded between the opposed
vaginal edges a few centimetres back, ready to close the perineal body.
The perineal sutures should be interrupted and a continuous fine suture is
then used for the skin.

When repairing a third or fourth degree tear this should be done by an
experienced clinician in a theatre with good analgesia, light and
appropriate instruments. The anal mucosa is repaired using interrupted
dissolvable stitches with the knot of each suture placed in the anal canal.
The internal sphincter is then identified and sutured. Next the external
sphincter is stitched and then the remaining damage is repaired as
described above.

Chapter 39 Monitoring of the fetus in labour

The purpose of monitoring the fetus in labour is to try and identify those
which might be at risk of hypoxic injury so that delivery can be expedited
and potential problems prevented. The process of monitoring usually
involves some form of fetal heart rate assessment with either intermitted
auscultation or by continuous electronic measurement (cardiotocography
CTG) and analysis of the fetal ECG waveform. Intermittent auscultation
is most appropriate in low risk labours with CTG being used in higher risk
labours or if there are concerns with intermittent auscultation. The CTG is
good at identifying a normal health fetus but there is a high false positive
Page | 669

rate and many fetuses labelled as distressed are actually not hypoxic. As
a consequence the rate of obstetric intervention may be increases in
return for no neonatal benefit. Analysis of the ECG alongside CTG can
improve the predictability.

Fetal physiology

Fetal oxygenation depends on a number of factors.

Maternal blood supply to the placenta during a contraction the
intramural vessels supplying the placenta are constricted by the smooth
muscle fibres of the uterus. Providing these contractions are not too long
or frequent, the placental blood supply has time to recover before the
next contraction begins. In hyperstimulation, where the uterus is
contracting too frequently, placental oxygenation may be impaired. In
other circumstances there may be placental hypoperfusion, for example
following the distal sympathetic blockade and associated hypotension
which can occur with spinal or epidural anaesthesia.

Functional capacity of the placenta a small, poorly formed placenta is
less capable of adequate oxygen transfer than a larger placenta. In this
condition the fetus may already be growth restricted prior to the onset of
labour and therefore more susceptible to a hypoxic stress. In abruption of
the placenta it is obvious that the resulting partial placental separation
leaves a reduced surface area for vascular communication, and is
therefore less efficient at oxygen exchange.

Fetal blood supply this is dependent on adequate fetal cardiac output.
The fetus responds to hypoxia with peripheral vasoconstriction and
redistribution of the blood to the heart and the brain. Prolonged
vasoconstriction may lead to damage in other organs, particularly the GI
tract (necrotising enterocolitis), the lungs (respiratory distress) and
kidneys (acute renal failure). Hypoxia also leads to anaerobic metabolism
and acidosis. Acidosis is therefore a reflection of the degree of
oxygenation, and this forms the basis of intrapartum fetal blood sampling.

Risk assessment

Babies at high risk of distress in labour include:
Fetal growth restriction
Placental hypertension
Precipitate labour
Premature labour
Prolonged labour
Induced labour or those augmented with syntocinon
Page | 670

Mothers with epidurals, a previous c-section or significant medial
problems
Those with meconium stained liquor

Meconium staining of the liquor this is present in 15% of all deliveries
and in about 40% of those at 42 weeks. The mechanism may be
stimulation of the vagus (parasympathetic) nerves in utero causing the
fetal gut to contract and the anal sphincter to relax. This often occurs for
no reason but may be in response to hypoxia. While often not of
significance, the presence of meconium staining increases the likelihood
that there is underlying fetal compromise. A normal CTG provides
reassurance, but an abnormal CTG becomes more significant and should
prompt a lower threshold for investigation and intervention.

As well as being a sign of fetal distress, meconium is found below the
vocal cords postnatally in about 1/3 of cases in which its presence may
give rise to meconium aspiration syndrome. This is a form of neonatal
pneumonitis and the clinical features range from mild neonatal
tachypnoea to severe respiratory compromise. The incidence is probably
unrelated to fetal hypoxia but the syndrome is more likely to be severe if
there is associated hypoxia/acidosis. It is also more severe when the
meconium is thick. There is no evidence to support early delivery in the
absence of fetal distress and it is likely that aspiration occurred in utero
rather than with delivery. Meconium staining can be graded as:
Grade 1 good volume of liquor stained lightly with meconium
Grade 2 reasonable volume of liquor with heavy suspension of
meconium
Grade 3 thick undiluted meconium of pea-soup consistency

Fetal heart recording

It is recommended the auscultate the fetal heart every 15 minutes before
and after contractions during the first stage of labour, and every 5
minutes between contractions in the second stage of labour. A baseline
bradycardia/tachycardia and the presence of decelerations are indications
for further evaluation with continuous CTG.

Continuous monitoring

This monitors contractions of the uterus measured by a pressure monitor
strapped to the abdomen. The fetal heart is also monitored either by
transabdominal ultrasonic Doppler or via a fetal scalp electrode which can
also show an ECG trace. The later is usually used when transabdominal
monitoring is unsatisfactory.

Normally the baseline of the fetal heart is between 110 and 160 beats per
minutes (bpm). This rate represents a balance between the sympathetic
Page | 671

and parasympathetic systems. Sustained tachycardia is associated with
prematurity and the rate slows physiologically with increasing gestation.
It may also be associated with fetal hypoxia, maternal pyrexia and the
use of exogenous beta-sympathomimetics. Baselines bradycardia is
associated with fetal acidosis but is more commonly found with
hypotension and maternal sedation. Congenital heart block and cardiac
dysrhythmias are rare.

Baseline variability is the variation in the fetal heart rate from one beat to
the next and is due to an imbalance between the sympathetic and
parasympathetic nervous system. This variability is low in early gestation
as the nervous system is poorly developed. Baseline variability is defined
as normal, reduced or absent and gives a good indication of fetal
wellbeing. It is usually between 10-25 bmp. This reduces during the
sleep/quiet phases which can last up to 40 minutes. Loss of variability is
associated with acidosis, prematurity and drugs. Fetal acidosis is most
likely if there is loss of variability along with late decelerations.

Accelerations of the fetal heart rate with contractions are a sign of a
healthy fetus but their absence in advanced labour is not unusual.
Antenatally there should be at least 2 accelerations per 15 minutes, each
with an amplitude greater than 15 beats and lasting at least 15 seconds.
Decelerations are of at least 15 bmp and last for more than 15 seconds.
Early decelerations occur with contractions. Id decelerations occur more
than 15 seconds after the contractions they are termed late. Variable
decelerations vary in both timing and shape.
Early decelerations reflect increased vagal tone and are probably
physiological
Variable decelerations may represent cord compression or acidosis.
A small acceleration at the beginning and end of the deceleration
suggests that the fetus is coping well with the stress of intermittent
compressions. These may resolve with maternal position change.
Late decelerations suggest acidosis. Shallow late decelerations may
be particularly ominous.

A trace with minimal to no variability is rare but may represent fetal
anaemia or be a feature of fetal physiological behaviour. It should be
considered serious until proved otherwise.

Fetal ECG

Myocardial hypoxia leads to changes in the ECG waveform:
An increased amplitude of the T wave the radio between the
height of the T wave and QRS complex amplitude gives an accurate
measurement of changes in T wave height. This is a result of
potassium release associated with mobilisation of store glucose.
Page | 672

Changes in the shape of the ST segment characteristically the
appearance of a biphasic pattern thought to be the result of the
depressant effect if hypoxia on myocardial function.

Fetal blood sampling

This is known as fetal scalp sampling and is a diagnostic test for fetal
acidosis. CTGs are used to screen for distress and are highly sensitive but
poorly specific. Since their use along would lead to a fourfold increase in
the c-section rate it is important to consider fetal blood sampling to
identify a normal pH in the false positive cases. Using an amnioscope a
tiny amount of blood is removed from the scalp and both pH and base
excess are measured. Normal maternal pH is 7.38 but the normal range
of fetal pH is broader, extending to as low as 7.20. In the presence of
hypoxia the fetus compensates by anaerobic glycolysis. This leads to an
accumulation of lactic acid and a fall in the pH.

Indications for FBS
Persistent late or variable decelerations on CTG
Persistent fetal tachycardia
Prolonged and persistent early decelerations
Significant meconium stained liquor (grade 2/3) along with any CTG
abnormality
Prolonged loss of baseline variability.

FBS is contraindicated where there is a risk of infection transmitted from
the mother, a fetal bleeding diathesis and before 34 weeks gestation.

Methods of fetal blood sampling the mother is placed in the lithotomy
position. An amnioscope is inserted and the scalp is dried with a swab.
The scalp is then sprayed with ethyl chloride to induce hyperaemia and
the area is covered with a thin layer of paraffin jelly (so that the blood
forms a blob and does not run). A blade is used to make a small nick in
the scalp and the blob is touched with a capillary tube. Where possible
three samples are taken.

Interpretation of results the scalp blood pH reflects the state of the
fetus only at the time of the sample while the base excess reflects a
change over a longer period. The correlation between CTG and scalp pH is
not precise but as a general rule:
If all four components of the CTG are normal the risk of a pH <7.20
is 2%
If one or two components are abnormal the risk of pH <7.2 is 20%
If two to four components of the CTG are abnormal the risk of pH
<7.20 is 50%

Page | 673

Generally delivery will be started if pH is <7.20 but it depends on the rate
of fall rather than the absolute value. A pH >7.25 is normal, 7.20-7.25 is
borderline and should be repeated at 30-60 minutes if not delivered. A pH
of <7.20 is abnormal and delivery by c-section, ventouse or forceps is
appropriate. A base excess <-6 is normal, -6.1 to -7.9 is borderline and
-8 is metabolic acidosis.

Long term prognosis following delivery

There are two main issues here: the first is whether a particular infant,
born with apparent compromise, will later turn out to be neurologically
normal i.e. prospective prediction. The second is whether an infant, later
discovered to be affected by a cerebral abnormality, sustained its injury
prior to the onset of labour or as the result of some intrapartum insult i.e.
retrospective evaluation.

Prospective prediction the actual length of time and degree of hypoxia
require to produce cerebral palsy in a previously health infant are
unknown but there are specific mechanisms which protect the fetus for
considerably longer than an adult with similar blood gas concentrations.
Nevertheless hypoxia can cause brain injury and various studies have
tried to correlate status at delivery with long term neurological outcome.
CTG abnormalities, Apgar scores, neonatal behaviour and neonatal brain
imaging have been evaluated.

CTGs and Apgar scoring are of very limited value in assessing long-term
prognosis. There is a higher incidence of non-reassuring CTGs and Apgar
scores in what is later shown to be a normal infant. Low Apgar scores for
example do not indicate a cause of fetal hypoxia but just reflect the
immediate status. Prolonged low values however are a more useful guide
and of those children scoring <3 at 10 minutes two-thirds will die within
one year and 80% of the survivors will be normal. Abnormal neonatal
behaviour, termed neonatal encephalopathy, is considerably more useful
characterised by difficulty maintaining respiration, a depression in tone
and reflexes, altered consciousness and seizures. There are three grades:
1. Hyper-alert and jittery with reduced tone usually resolves in 24 hours
2. Lethargic with seizures and weak suck 15-27% chance of sequelae
3. Flaccid, no suck, no Moro and prolonged seizures nearly 100%
sequelae.

Radiological assessment is also of use in assessing long-term neurological
function. The prognosis is good if the CT or MRI scans are normal. Any
damage is most obvious in the periventricular areas which will show
periventricular leukomalacia. Early cerebral oedema shows an acute and
recent event, usually resolving in 4 days. EEG can also be used to assess
neural function.

Page | 674

Retrospective evaluation CP is not usually diagnosed until months or
years after birth and it is often at this point that questions about delivery
are asked. In many instances it is impossible to say if the insult occurred
antenatally or in labour. Studies suggest that 90% of antenatal in origin
and 10% occur in delivery. In particular there is a strong association with
prematurity, fetal growth restriction, intrauterine infection, fetal
coagulation disorders, antepartum haemorrhage and chromosomal or
congenital abnormalities. CP should be of the spastic quadriplegic or
Dyskinetic type as these are the only types cause by fetal hypoxia.

Chapter 40 Induction of labour

Induction of labour is indicated when the risks of continuing the
pregnancy are felt to be greater than the risks of ending the pregnancy.
Induction is generally carried out in the interests of fetal wellbeing and
less commonly for maternal reasons. Induction is different from
augmentation and refers to the process of starting labour rather than
helping it along. Indications for induction can be divided into fetal and
maternal:
Fetal
Post dates 41 to 42 weeks
Fetal growth restriction
Certain diabetic pregnancies
Deteriorating haemolytic disease of the newborn
Maternal
Pre-eclampsia
Deteriorating medical conditions

The decision to induce labour depends on the balance between the risks
of continuing fetal surveillance and the risks of induction and preterm
delivery. Induction risks are largely the use of oxytocics, the preparation
that stimulates uterine activity. The side effect of greatest concern is
hyperstimulation which carries the risk of fetal compromise. The process
of induction is associated with increased obstetric intervention,
particularly if carried out before 41+ weeks gestation. Finally induction
may be unsuccessful and the obstetrician may feel compelled to
undertake a c-section that would not have otherwise been necessary.

Before induction the gestation should be confirmed, the presentation
checked and any contraindications (e.g. placenta praevia) excluded. It is
important to note that real caution is needed in those who have had a
previous caesarean section or previous uterine surgery, as induction
carriers an increased risk of uterine scar rupture, and may clinicians
would consider these as contraindications unless the cervix was very
favourable. In addition grand multiparity and a history of previous
Page | 675

precipitate labour also carry increased risks of hyperstimulation. The
decision about which technique is the most appropriate depends on the
cervix as assessed by the Bishops scoring system.

Bishops score

Score 0 1 2
Cervical dilation (cm) <1 1-2 3-4
Length of cervix (cm) >2 1-2 <1
Station of presenting part
(cm)
Spines-3 Spines-2 Spines-1
Consistency Firm Medium Soft
Position Posterior Central Anterior

If the score is 6 or less then the cervix should be ripened with
prostaglandins
If >6 either prostaglandins or artificial rupture of the membranes +/-
syntocinon may be considered.

Unfavourable cervix

Prostaglandins these promote cervical ripening and stimulate uterine
contractility. They have been administered by the oral, parenteral and
vaginal route as well as directly through the cervix and infused into the
extra-amniotic sac. The main side effect is GI upset with nausea, vomiting
and diarrhoea, which may occur in up to 50% of cases depending on
route of administration. Vaginal preparations have fewer side effects than
oral or parenteral routes. Administration directly into the cervix has been
associated with higher failure rates than other routes.

Prostaglandin E
2
is used in clinical practice and is a gel or tablet that is
inserted into the posterior fornix and, if there is no uterine activity, the
cervix is reassessed in 6 hours. If the Bishops score is <7 further
prostaglandin is given and the cervix reassessed in another 6 hours.
Further doses may be given or the patient can be left for 12-18 hours. If
at any stage the Bishops score is >6 then AROM can be performed,
reassessment made in 2 hours and syntocinon started if there are no
further changes. Prostaglandin should not be given if there is regular
uterine activity. Misoprostol can be given orally or vaginally but carries a
higher incidence of hyperstimulation than does PGE
2
preparations.
Sustained release preparations are also available for 12 hour use. As
these all cause uterine contractions there is the potential to reduce
uterine blood flow and compromise the fetus. CTG monitoring is therefore
indicated.

Favourable cervix

Page | 676

If the cervix is favourable then there is the choice between
prostaglandins, AROM or AROM with syntocinon. It remains unclear which
of these is superior.

AROM Can be used for those with a sufficiently favourable cervix or as
augmentation for those who are in active labour. It probably works by a
combination of reduction in uterine pressure and a local prostaglandin
release. It also allows for the colour of the liquor to be assessed. Before
AROM a VE is performed. The fetal head should be well applied to the
cervix to minimise the risk of cord prolapse. With asepsis, the tips of the
index and middle finger of one hand should be laced through the cervix
onto the membranes. The amniotomy hook should be allowed to slide
along the groove between the fingers until the cervix is reached. The hook
is then turned upwards and used to break the sac. Liquor is usually seen
but it may be absent with oligohydramnios or a well applied head. Cord
prolapse should be excluded before removing the fingers and the fetal
heart should be re-checked.

Syntocinon this may be used for induction after AROM with a favourable
cervix, or for augmentation of a slow, non-obstructed labour. It should
only be started after membrane rupture, and continuous CTG monitoring
is mandatory. The dose should be titrated against the contractions,
aiming for not more than six to seven every 15 minutes. In induction the
use of syntocinon immediately after AROM reduces the time to delivery,
the rate of postpartum haemorrhage and the need for operative delivery.
Nevertheless, without syntocinon labour will begins within 24 hours in
nearly 90% of cases.

Membrane sweep

This involves performing a VE and inserting a finger through the internal
cervical os to separate the membranes from the uterine wall, thus
releasing endogenous prostaglandins. It is often uncomfortable for the
mother. If a sweep is carried out once after 40 weeks gestation, it
doubles the incidence of spontaneous labour over controls, especially in
those with a low Bishop score. The risk of infection is considered to be
minimal.

Anti-progesterone

Mifepristone, a progesterone antagonist, has been shown to increase
uterine activity and lead to cervical softening.

Extra-amniotic saline

This involves putting a catheter through the cervix and infusing normal
saline into the extra-amniotic space. This should be limited to 1500ml.
Page | 677

This is similar to use PGE
2
in effect but is cheaper and is better for non-
affluent countries.

Failed induction

Sometimes, despite the listed techniques, induction is unsuccessful. If the
reason for induction was for some significant fetal or maternal indication
then there is probably little choice except a c-section. If, on the other
hand, the induction was for some less pressing reason then a more
conservative approach can be taken.

Chapter 41 Pain relief in labour

Factors influencing pain

The severity of labour pain can vary depending on obstetric, psychological
and emotional factors. Pain scores have been shown to be higher in
Primigravid women than in multiparous women, especially if they have
not had any antenatal preparation. Reports have also shown that
Primigravid women generally experience more sensory pain during early
labour compared to multiparous women, who experience intense pain
much later in labour as a result of rapid descent of the fetus. Long labours
are perceived to be more painful and labour is also reported to be more
painful when there is fetal malposition and, in particular, a women whose
baby is occipitoposterior may experience continuous backache.

Physiology of labour pain

There are two components to the pain of labour, visceral (relating to the
organ) and somatic (relating to other tissues). Visceral labour pain occurs
during the first stage of childbirth and is due to progressive mechanical
dilatation of the cervix, distension of the lower uterine segment and
contraction of the uterine muscles. Labour pain may also be as a result of
the myometrial and cervical ischaemia that occurs during contractions.
Severity of pain generally mirrors the intensity and duration of
contractions. Visceral pain is transmitted by small unmyelinated C fibres
which travel with sympathetic fibres and pass through the uterine,
cervical and hypogastric nerve plexuses into the main sympathetic chain.
This then enters the white rami communications of T10 to L1 where they
synapse with the dorsal horn of the spinal cord. The pain is generally dull
in character and is sensitive to opioids.

Somatic labour pain occurs during the late first stage and second stage of
labour and is due to stretching and distension of the pelvic floor,
perineum and vagina. It occurs as a result of descent of the fetus and
Page | 678

during this stage of labour the uterus contracts more intensely in a
rhythmic and regular manner. Somatic pain is transferred by fine,
myelinated, rapidly transmitting A delta fibres. Transmission occurs via
the pudendal nerves and perineal branches of the posterior cutaneous
nerve of the thigh to S2 to S4 nerve roots.

All resulting nerve impulses, both visceral and somatic, pass to dorsal
horn cells and finally to the brain via the spinothalamic tract. Direct
pressure of the fetus on the lumbosacral plexus also results in
neuropathic pain during labour.

Psychology of labour pain

Maternal control makes labour a more positive experience. Attitudes to
pain and pain relief in labour depend on personal aspirations,
expectations, cultural factors, learned behaviours, peer group influences,
desirability of pregnancy, previous experiences of pain, pre-existing
anxiety or depression and preparation, education and communication.

Methods of pain relief

Non-pharmacological methods

Maternal support psychological support is extremely valuable and allows
pharmacological interventions to be minimised. The continuous presence
of a supportive companion or partner is recommended. This is enhanced
by a positive attitude from midwives or other professionals involves in the
labour.

Environment music and a light diet should be offered and the mother
should be encouraged to be mobile and comfortable. Pain is generally
increased by lying on the back so positions such as squatting may help.

Birthing pools the use of warm baths and pools has been shown to
reduce pain and need for regional analgesia. These should not be used
within 2 hours of the administration of opioids or if the mother is drowsy.

Education maternal education has some effect in engendering calm and
making expectations realistic. Breathing, relaxation techniques, massage,
acupuncture, acupressure and hypnosis are used by some women but
there is limited evidence about their effectiveness. TENS has no analgesic
benefit but its use is not associated with harm.

Pharmacological methods

Inhaled analgesics Entonox (50:50 mixture of oxygen and nitrous
oxide) is commonly used by labouring mothers. Despite its widespread
Page | 679

use, studies have shown that it is not a potent analgesic in labour;
reassuringly, however, there is moderate evidence for its safety. Any pain
relief it offers is limited and side effects include nausea, vomiting,
drowsiness and light-headedness. Other anaesthetic gases can be used at
sub-anaesthetic concentrations for improved analgesia but their
availability is limited due to cost and the need for an anaesthetist.

Systemic opioid analgesia systemic opioids have limited effect
irrespective of the drug, the route or the method of administration. There
is the potential for maternal nausea, vomiting and drowsiness, and short-
term respiratory depression and drowsiness in the neonate. Antiemetics
should be administered when parenteral opioids are used.

Pudendal analgesia the pudendal nerve is derived from S2, 3, 4 and
supplies the vulva and perineum. It crosses the sacrospinous ligament
behind the ischial spine along with the pudendal artery and local
infiltration at this point may provide useful perineal analgesia for a low-
outlet forceps or ventouse delivery. A pudendal needle is inserted through
the sacrospinous ligament and, after aspiration, to ensure that the
injection is not intravascular, a local anaesthetic is injected behind the
ligament on that side. The injection is repeated on the other side and it is
usual to infiltrate the perineum directly at the same time.

Regional analgesia this refers to an intrathecal (subarachnoid space) or
epidural space injection. In general epidurals are used for labour and
spinals are used for other operative procedures. These techniques reduce
the need for a GA when doing a caesarean section.

Epidural analgesia for labour there is good evidence that this is more
effective than parenteral opioid administration. The main indication for an
epidural is maternal request, but there may be an obstetric indication
such as a twin delivery when manual manipulation of the second twin
may be needed. Epidurals do not cause a prolonged first stage, do not
lead to an increased rate of caesarean section and are not associated with
long term backache. They are, however, associated with prolonged
second stage and a higher rate of instrumental delivery. The addition of
opioid to the epidural solution allows less local anaesthetic to be used and
therefore greater mobility. Continuous electrical fetal monitoring is
recommended for at least 30 minutes after the initial epidural injection
and after administration of each bolus thereafter. Epidural anaesthesia
should be continued until the third stage and for perineal repair if
necessary.

Side effects can arise from the mechanical nature of the technique, or
from the drugs themselves. Neurological complications from mechanism
insertion are rare. Side effects from the local anaesthetic include
hypotension, urinary retention, pyrexia, pruritus, maternal respiratory
Page | 680

depression and neonatal respiratory depression. The hypotension results
from sympathetic blockade and peripheral vasodilation and should be
managed by lying the patient in the left lateral position, giving oxygen,
and treating with IV fluids or vasopressin.

Spinal anaesthesia these are rarely used for primary analgesia but are
commonly used for c-section and instrumental delivery or the surgical
management of a postpartum complications e.g. tearing. These are
invariably carried out with a single shot which provides a dense block for
2-4 hours. As with epidurals, the addition of an opioid allows some
sparing of the local anaesthetic volume which spares some side effects.

Complications are again considered in relation to the mechanism and the
drugs. The mechanical problems are the same as for epidurals.
Hypotension can occur and a higher block can lead to bradycardia which
further compounds hypotension.

General anaesthesia this carries more risks in pregnancy as there is
reduced gastro-oesophageal tone, increased intra-abdominal mass and
reduced gastric emptying meaning regurgitation and aspiration become
more likely. In addition the gastric contents are more acidic in pregnancy
and any aspiration could lead to pneumonitis. Difficult and failed
intubation is more likely too due to the pregnancy related obesity.
Regional anaesthesia is therefore preferred.

Chapter 42 Precipitate labour and slow labour

Abnormal uterine activity has no clear definition, partly because the range
of normal uterine activity itself has no clear definition. It is tempting to
refer to over activity as that which results in labour progressing too
quickly, and inadequate uterine activity as that which is insufficient to
provide adequate progress, but the rate of progress has no precise
definition either. In practice, over activity presents as rapid painful
contractions often associated with fetal distress and inadequate uterine
activity as absent or slow cervical dilatation.

Precipitate labour results from uterine over activity. Slow labour may
result from inadequate uterine activity, cephalopelvic disproportion or a
combination of the two. Cephalopelvic disproportion refers to how well the
fetal head fits through the pelvis and may occur if the fetal head is too big
or if the pelvis is too small. It is subdivided into true cephalopelvic
disproportion if the head is in the correct position and relative
cephalopelvic disproportion if the obstruction is caused by the head
presenting in some less favourable position.

Page | 681

Precipitate labour spontaneous hypercontractility is rare (only 1:3000).
The contractions may be excessively long or be excessively frequent and
there is a risk of fetal hypoxia due to interference with the placenta blood
supply. Uterine hyperstimulation occurs much more commonly and is
caused by the use of oxytocics. Both syntocinon and prostaglandins may
be implicated. Generally these are started on a low dose of 0.5-1mU/min
and increased over 4-5 hours to 12mU/min. The licensed maximum dose
is 20mU/min but some clinicians use up to 40mU/min. With
prostaglandins hyperstimulation is also a significant risk but is less likely if
their administration is intravaginal rather than oral, intracervical or
directly extra-amniotic.

Precipitate labour either resulting from spontaneous hypercontractility or
uterine hyperstimulation may lead to fetal distress. Placental blood supply
becomes interrupted during uterine contractions and, if excessively long
or frequent, then the fetus has less chance to recover between.
Precipitate labour also predisposes to uterine rupture in parous women,
particularly if there is a previous c-section scar.

Management is largely dependent on fetal condition. If syntocinon is
being used then it should be stopped and a tocolytics used instead. If
severe fetal distress is evident then it may be necessary to delivery
instrumentally or by caesarean section depending on the dilation of the
cervix. If a c-section is arranged it is worth performing a VE prior to the
operation as multiparous women can quickly dilate. It is important to note
that frequent uterine contractions are also a sign of placental abruption.
Contractions with a frequency of more than 1 in every 2 minutes are
highly suggestive of this problem and these contractions may increase the
distress of a fetus already compromised by partial placenta separation.
This diagnosis is even more likely if there is associated lower abdominal
pain, backache and vaginal bleeding. Tocolytics are contraindicated in this
condition as uterine relaxation may exacerbate the bleeding and
precipitate further placental separation.

Slow labour

Slow labour is associated with eventual fetal distress and fetal hypoxic
injury, an increased risk of intrauterine infection leading to fetal and
maternal morbidity, maternal anxiety and long term psychological
scarring and finally a loss of confidence in those providing maternity care.
There are all associated with an increased chance of caesarean section or
instrumental delivery.

Slow labour can be divided into two main causes:
Prolonged latent phase (cervical effacement and onset of
contractions) idiopathic
Page | 682

Prolonged active phase and secondary arrest (when the cervix
dilates) caused by many things including a hypoactive or
incoordinate uterus and cephalopelvic disproportion (true or
relative).

Prolonged latent phase

The latent phase is from the onset of contractions until the cervix is fully
effaced and the active phase is when the cervix begins to dilate. The
latent phase is most likely to be prolonged in those whose cervix is
unfavourable and a prolonged latent phase is therefore much more
common in primips. There are rarely any serious causes for a prolonged
latent phase. Cephalopelvic disproportion usually presents at more
advanced stages of cervical dilatation. Only vary rarely are these
symptoms mimicked by dehiscence of a previous caesarean section scar.
With a prolonged latent phase the woman can often become weary and
exhausted from what can sometimes be discomfort over a number of
days. It is important to resist the temptation to intervene by artificially
rupturing the membranes or giving oxytocics, at least until the cervix is 2-
3cm dilated, fully effaced and well applied. These measures may indeed
increase the risk of further obstetric intervention in what might turn out
to be an uneventful labour. Reassurance, encouragement and appropriate
analgesia over this time are extremely important.

Prolonged active phase and secondary arrest

The active phase is usually prolonged due to inadequate uterine activity
or cephalopelvic disproportion.

Inadequate uterine activity the uterus can either be hypoactive or
incoordinate. A hypoactive uterus is one with low resting tone and only
weakly propagated contractions. There is often a longer interval between
contractions and the contractions are not particularly painful. Incoordinate
uterine activity may occur because of inadequate fundal dominance. As
previously mentioned the contraction should begin at the fundus of the
uterus where the muscle is thickest. Here should be the strongest
contraction with a moderate contraction in the mid-segment and a mild
contraction in the lower segment. With an incoordinate uterine activity the
intensity profile appears to be reversed. This is much less efficient. The
resting tone is also found to be increased throughout and hence the
threshold for pain is reached much quicker.

Inadequate uterine activity has no specific cause but is much commoner
in primips. It may simply be a developmental feature that resolves
spontaneously given time. There is additional evidence that inadequate
uterine activity is associated with cephalopelvic disproportion. This is
because cervical dilatation itself may improve uterine activity, but is less
Page | 683

likely to occur if the presenting part is pressing less firmly on the cervix.
If progress is satisfactory then there is no need to consider treatment.
Most patients will respond well to oxytocics if used. If labour is long then
care should be taken to ensure the mother does not become dehydrated
or ketotic.

Cephalopelvic disproportion (CPD)

This can occur because:

1. The babys head is presenting in the optimal way but is too large
relative to the pelvis (true disproportion). It is diagnosed if the head does
not become engaged despite adequate uterine activity. It is not possible
to predict, even with modern techniques. Even short stature women are
not necessarily regarded as high risk as they tend to have smaller babies.

2. There is malpresentation or malposition of the babys head so that a
wider part of the head is being presented to the pelvis. This is relative
disproportion and occurs most commonly when there is occipitoposterior
presentation. The first and second stage progress more slowly and,
although spontaneous delivery is quite possible with the face coming out
face to pubis, secondary arrest is not uncommon.

3. There is some form of pelvic abnormality. These are uncommon in
affluent societies and are associated with disease, injury or severe
nutritional problems. The obstetric classification is based on the shape of
the pelvic brim, as it is the pelvic inlet which seems to be the major
determinant of successful delivery.

The normal pelvis is termed gynaecoid and is the commonest, followed by
a long oval anthropoid pelvis which is still relatively common but more
associated with an occipitoposterior presentation.

Minor defects such as a platypelloid or triangular android pelvis are
usually nutritional or environmental in origin. The major deformations
caused by nutrition and the environment are due to rickets or
osteomalacia. Disease or injury is less common but main causes are
kyphosis or scoliosis, tumours, fractures, childhood polio or congenitally
dislocated hip.

Management of slow labour

When progress is slow it is important to determine which of the above
causes are to blame. The strength of the contractions is difficult to assess
reliably but some idea of strength can be gained through maternal
observation and abdominal palpation. In the presence of cephalopelvic
Page | 684

disproportion there will be caput and moulding and malposition or
malpresentation may be identified by careful VE.

In a primip with slow progress or secondary arrest who do not have a
prohibitive malpresentation it is reasonable to start syntocinon. This is not
appropriate if there is fetal distress and should only be after the
membranes have been ruptured or ruptured spontaneously. The aim is to
get 3-4 contractions per minute. A VE is needed every 2-3 hours to
ensure adequate progress. If still inadequate then an operative delivery
will be needed.

In parous women the decision is more difficult owing to the higher risk of
uterine rupture. A sudden rupture into the peritoneal cavity can rapidly
lead to fetal death. If the mother has had a previous vaginal delivery then
true cephalopelvic disproportion is extremely unlikely.

Chapter 43 Malpresentations and malpositions

In the third trimester of pregnancy abdominal palpation should aim to
define the lie, presentation and position of the fetus in that order. The lie
refers to the long axis of the fetus in relation to the long axis of the
uterus. Usually the fetus is longitudinal but occasionally it may be
transverse or oblique. The presentation is that part of the fetus which is
at the pelvic brim, in other words the part of the fetus presenting to the
pelvic inlet. Normal presentation is the vertex of the fetal head and the
word malpresentation describes any non-vertex presentation. This may
be of the face, brow, breech or some other part of the body if the lie is
transverse or oblique.

The position of the fetus refers to the way in which the presenting part is
positioned in relation to the maternal pelvis. This can refer to any part but
generally it is cephalic. The head is usually occipitotransverse at the pelvic
brim and rotates to occipitoanterior at the pelvic floor. Malposition is when
the head, coming vertex first, does not rotate to occipitoanterior,
presenting instead as persistent occipitotransverse or occipitoposterior.

Malpresentation

When the fetus has a cephalic presentation the presenting diameter is
dependent on the degree of flexion or extension of the fetal head
deflexed and brow presentations offer a wide diameter to the pelvic inlet
and hence cause more problems. As the fetal neurocranium is made up of
individual bony plates (occipital, sphenoid, temporal and ethmoid bones)
which are joined by cartilagenous sutures (frontal, sagital, lambdoid and
coronal) there is the potential for the skull to be moulded during labour.
Page | 685

This allows the head to fit the birth canal more closely. Moulding is
different from caput which refers to oedema of the presenting part of the
scalp. Both can occur in any cephalic presentation but are more likely to
occur in malpresentation.

Face presentation

This occurs in around 1:500 births and is associated with anencephaly (no
top of head) but this is a rare cause. This presentation is usually only
noticed at labour and, if the face is swollen, it is easily confused with a
breech presentation. The position of the face is described with reference
to the chin, prefix mento. The face usually enters the pelvis with the chin
transverse and 90% rotate to mentoanterior so that the head is born with
flexion. If mentoposterior then the extending head presents an
increasingly wide diameter to the pelvis, leading to worsening relative
cephalopelvic disproportion and impacted obstruction. A caesarean
section is usually needed.

Brow presentation

This occurs in 1:1500 births and is the least favourable for delivery. The
supraorbital ridges and the bridge of the nose will be palpable on VE. The
head may flex to become a vertex presentation or extend to a face
presentation in early labour. If the brow presentation persists then a
caesarean section is indicated.

Breech presentation

This describes a fetus presenting bottom first. The incidence is around
40% at 20 weeks, 25% at 32 weeks and only 3-4% at term. The chance
of a breech presentation turning spontaneously at 38 weeks is less than
4%. A breech presentation is associated with multiple pregnancy,
bicornuate uterus, fibroids, placenta praevia, polyhydramnios and
oligohydramnios. It may also rarely be associated with fetal anomalies,
particularly neural tube defects, neuromuscular disorders and autosomal
trisomies. At term, 65% of breech presentations are frank (extended)
with the remainder being flexed or footling. Footling breeches carry a 5-
20% risk of cord prolapse.
Extended (frank) babies legs by its ears
Flexed knees up to chest
Footling body extended as if almost standing

Mode of delivery

The risk of vaginal delivery with a breech presentation is small but risks
include intracranial haemorrhage, widespread bruising, damage to the
internal organs, spinal cord transaction, umbilical cord prolapse and
Page | 686

hypoxia following obstruction of the after-coming head. The risks of c-
section are largely maternal and related to surgical morbidity and
mortality. There is now evidence that a planned c-section is associated
with less perinatal mortality and less serious neonatal morbidity than
planned vaginal birth at term. The maternal risks are about the same,
possibly as these vagina deliveries often end with an intrapartum c-
section.

External cephalic version (ECV)

All women with an uncomplicated breech pregnancy at term should be
offered ECV. It is good practice to offer ECV from 36 weeks in nulliparous
women and from 37 weeks in multiparous women. There is no point in
attempting ECV with a significant placenta praevia as a c-section will still
be required. Other contraindications include:
When c-section is needed
Antepartum haemorrhage in last 7 days
Abnormal CTG
Major uterine anomaly
Rupture membranes
Multiple pregnancy (except after delivery of first twin)
Absence of maternal consent
Relative contraindications
Scarred uterus
Unstable lie
Small for gestation age
Proteinuric pre-eclampsia
Oligohydramnios
Major fetal anomalies

Procedure a CTG and US should be performed and access to a theatre is
useful if needed. ECV is most likely to be successful in multiparous women
and when the presenting part is free, the liquor volume is normal, the
head is easy to palpate and the uterus feels soft. A flexed breech is more
likely to turn than an extended breech.

Ask the mother to lie flat with a 30 degree lateral tilt. The use of
tocolytics to soften the uterus is associated with an increasing success
rate. Applying scanning gel to the abdomen allows easier manipulation
and permits scanning during the procedure if needed. Disengage the
breech with the scan probe or hand and then attempt to rotate in the
direction in which the baby is facing. Check the fetal heart rate every 2
minutes. If unsuccessful then a backwards somersault can be tried. If
only partially successful, i.e. a transverse lie, then the fetus should be
returned to the breech position. Give anti-D 500IU i.m. if rhesus negative.
Perform a CTG after the procedure is complete. The success rate is 30%
in primips and 50% in multips.
Page | 687

Caesarean section for breech presentation

The evidence above only considers term pregnancies. It is probably
advisable to perform a c-section in preterm deliveries as there is the
additional risk of the cervix closing around the neck after delivery of the
breech. The appropriateness of c-section in extreme prematurity is
difficult as the fetus will undergo trauma no matter which method is
chosen.

Vaginal delivery for breech presentation

This may be appropriate if the fetal weight is <3.8kg and there is no fetal
compromise, pre-eclampsia or placenta praevia. Ideally the onset of
labour should be spontaneous, the breech frank or flexed and the liquor
volume normal. The first stage is managed with caution. The role of
epidural analgesia is controversial as it may facilitate manipulation of the
fetus but inhibit the desire to push. Augmentation must only be used if
disproportion has been excluded and even then with caution. There is no
contraindication for a fetal scalp electrode to be used as long as the
genitalia is avoided.

At full dilatation the mother can be advised to push and the temptation to
pull the child out should be resisted. The baby should ideally be left to
deliver itself, taking care to ensure the back remains uppermost during
delivery. If there is undue delay or concern then an assisted delivery can
help encourage a more rapid delivery.

One of the key risks for breech delivery is that pulling may lead the head
to extend and therefore become stuck at the pelvic brim. The importance
of maternal effort at this point rather than traction cannot be emphasised
enough as it allows the head to flex and minimises the risk of it becoming
stuck at the pelvic brim. Should the head become trapped in an undilated
cervix it should first be flexed as much as possible and failing this a
cervical incision at 4 and 8 oclock may be needed but this risks massive
and potentially fatal maternal haemorrhage. Alternatively the fetus can be
pushed up and a caesarean section tried but this is very difficult. All
babies who are breech should be examined for developmental dysplasia of
the hips (DDH).

Transverse lie and oblique lie

These are uncommon and occur in less than 1%. Usually there is no
specific cause but abnormal lie is more common in multiparous women,
multiple pregnancies, preterm labour and polyhydramnios. It may also be
associated with placenta praevia, congenital abnormalities of the uterus
and lower uterine fibroids and other pelvic masses. If transverse then a
Page | 688

scan is needed to exclude the conditions just mentioned. ECV is usually
possible and the mother should be reviewed a few days later to ensure
the lie is stable. She should be advised to come into hospital if there are
any signs of labour and ECV may be possible at this stage also. In view of
the small risk of cord prolapse some clinicians advise a woman to be
admitted at 38 weeks until birth. In the lie is transverse in active labour
then a c-section is needed.

Unstable lie

An unstable lie is one that varies from examination to examination. The
options are:
Manage conservatively with repeat ECVs as required and await
labour. Should membranes rupture in a non-cephalic presentation
then there may be the risk of cord prolapse and should be managed
as described above.
Arrange to turn the baby to cephalic presentation and then induce
labour (stabilising induction). The disadvantages here are that
induction is not without its risks and the lie may become unstable
again
Carry out a caesarean section

Malposition

Normally the head engages at the pelvic brim in the occipitotransverse
position, flexing as it descends into the pelvic cavity and rotating to
occipitoanterior at the level of the ischial spines. The head then extends
as it descends, distending the vulva until it is delivered. In about 10% of
pregnancies the head enters an OP position or somewhere in-between OP
and transverse. With this there are three main possibilities:
1. the occiput will rotate anteriorly to occipitoanterior and then delivery
(65%)
2. it will partially rotate to occipitotransverse and not deliver (20%)
3. It will rotate more posteriorly to occipitoposterior (15%)

Those that remain OP have greater difficulty negotiating the birth canal
and are less likely to deliver spontaneously. This is because extension of
the head is not possible in this position and a wider diameter is presented
to the outlet. With malposition the first and second stages of labour are
usually longer, partly because of a greater presenting diameter and partly
because the head is less well applied to the cervix and therefore less able
to encourage dilatation. Back pain in labour appears to be more common
with the OP position. The mother is more likely to request an epidural and
secondary arrest is more likely due to relative cephalopelvic disproportion.
If the cervix does not reach full dilatation, despite syntocinon, then a c-
section is needed. If full dilatation is reached then it is quite possible for a
Page | 689

baby to deliver in the OP position but, not commonly, manual rotation,
rotational ventouse or forceps delivery may be required.

Hands off vaginal breech delivery

As the breech descends with pushing it rotates to the antero-posterior
and advances over the perineum. It then rotates with its back uppermost
and any movement of the back posteriorly should be corrected. The legs
will free themselves as the baby advances and will hang down. With
pushing the arms will deliver. The breech should be allowed to hang in
order for the head to flex, waiting for the nape of the neck to become
visible. After delivery of the other arm, flexion of the babys head is
encouraged by placing the second and third fingers of the lower hand
over the malar bones on the face and pulling them towards you while the
second and third fingers of the other hand are used to push the occiput of
the head away from you. With maximum flexion, the head can then be
delivered. An episiotomy can be used if necessary.

Assisted vaginal breech delivery

The knees can be flexed to deliver the legs. Once the legs are delivered it
is important to wait for the body to advance further before holding the
bony pelvis firmly. Rotation allows one arm to be freed, flexed and
brought down while rotation the other way allows the other arm to be
similarly delivered. After delivery of the other arm, flexion of the babys
head is again encouraged by allowing the breech to hang down and the
head is delivered as for the hands off vaginal breech delivery.

Chapter 44 Obstetric emergencies

Principles of management

Anticipation and preparation are essential as they may lead to prevention.
For example a mother with a history of PPH should be given IV access and
bloods sent for group and save.

On an identifications of an emergency

1. Call for help using an emergency bleep or pull cord. The team should
include a senior obstetrician and anaesthetist, the theatre team, a person
skilled in neonatal resuscitation, the midwifery sister, a porter and the
junior medical staff.

2. Ensure the environment is safe and that ABC is applied as appropriate.
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A Place patients head down, maintain airway, give O
2
at 15l/min via
facemask, and attach pulse oximetry.

B Assess, monitor RR and ventilate if required
C Insert two large bore grey or brown cannulae; take a full set of bloods
(FBC, coagulation, cross match 6 units, U&Es, LFTs. In all cases of severe
haemorrhage give 1 litre 0.9% saline or Hartmans.

3. Check maternal observations as appropriate

At this point see the appropriate management guidelines for the particular
emergency.

4. Consider ECG, blood glucose measurements, CVP and an arterial line

Resuscitation

This should have a strong focus on the ABC of basic life support. The aim
is to resuscitate the mother and then (and only then) to consider the
welfare of the baby. Resuscitation is pregnancy has some differences from
a normal adult but it is still essential to approach the problem using ABC
before considering the possible causes. The causes can be divided into the
four Hs and four Ts:
Hs
Hypoxia
Hypovolaemia
Hypo/hyperkalaemia
Hypothermia
Ts
Thromboembolism
Toxic
Tamponade
Tension pneumothorax
Also include eclampsia and amniotic fluid embolus.

The key resuscitation differences are that:
The aorta and vena cava are compressed by the gravid uterus and
impede venous return, reducing cardiac output
There is an increase risk of aspiration of stomach contents due to
relaxation of the oesophageal-gastric junction and the pressure of
the uterus
Difficult intubation is more common in the pregnant woman
compared to normal (1:300 to 1:3000) due to a shorter neck and
laryngeal oedema
Chemical pneumonitis is more likely due to the decreased pH of
stomach contents and the increased chance of inhaling this

It is therefore important, in the early stages of resuscitation to:
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Tilt the patient to their left by 15-30
o
(increased cardiac output by
25% by reducing aortocaval compression)
Apply cricoids pressure and intubate early to avoid aspiration and
facilitate oxygenation
Involve a senior obstetrician and anaesthetist immediately

It is essential to perform a caesarean section early and the decision for
peri-mortem caesarean section should be made by 4 minutes if there is
no response to active resuscitation, and the delivery by 5 minutes. This is
primarily to save the life of the mother and makes CPR more effective by:
Improving venous return
Improving ease of ventilation
Allowing CPR to be carried out in the supine position
Reducing oxygen requirement after delivery

Amniotic fluid embolism

This is one of the most catastrophic conditions that can occur in
pregnancy but fortunately it is rare with an incidence somewhere between
1:8000 and 1:30,000. This is the third largest cause of maternal death
within the UK and until recently the mortality at 30 minutes was 85%.

Aetiology this is still unclear but it is thought that there is some
breakdown between the physiological barrier separating the mother and
fetus, allowing a bolus of amniotic fluid to enter the maternal circulation.
This bolus moves to the pulmonary circulation and produces massive
perfusion failure, bronchospasm and shock. More recently it has been
suggested that this may be an anaphylactoid reaction to fetal antigens.

Risk factors this condition can occur at any time during pregnancy but it
most commonly occurs in labour (70%), after vaginal delivery (11%), and
following caesarean section (19%). The main risk factors are: multiparity,
placental abruption, intrauterine death, precipitate labour, termination of
pregnancy, abdominal trauma, ECV and amniocentesis.

Clinical features this condition develops almost instantaneously and
hence the diagnosis needs to be considered in all collapsed obstetric
patients. Some symptoms may include chills, shivering, sweating, anxiety
and coughing whilst signs include cyanosis, hypotension, bronchospasm,
tachypnoea, tachycardia, arrhythmias, MI, seizures and DIC. Classically a
woman in late stages of labour or immediately postpartum will start to
gasp for air, starts fitting and may have a cardiac arrest. There is often a
profound DIC with massive haemorrhage, coma and death. There are
inevitably signs of fetal compromise.

Diagnosis definitively this is by autopsy and is made by confirming the
presence of fetal squames in the pulmonary vasculature. This is also
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possible in a surviving patient by bronchiole washings. In the acute
setting there diagnosis has to be made by exclusion.

Management this is primarily supportive and needs to be aggressive.
There is, however, so significant evidence that any specific type of
intervention significantly improves maternal prognosis. Initial therapy is
aimed at supporting CO and management of DIC. If the woman is
undelivered, an immediate caesarean section may be appropriate
providing the mother can be stabilised. A chest x-ray will often show
pulmonary oedema and an increase in right atrial and right ventricular
size. The ECG demonstrates right ventricular strain and there is a
metabolic acidosis. Additional therapies may include:
Aggressive fluid replacement
Maintenance of CO with a dopamine infusion
Treatment of anaphylaxis with adrenaline, Salbutamol,
aminophylline and hydrocortisone
Treatment of haemorrhage after delivery with syntocinon,
ergometrine, carboprost or misoprostol and uterine massage
Early transfer to an ITU for central monitoring, respiratory support
and other therapy as appropriate

Prognosis the outcome for the baby is very poor, with a perinatal
mortality rate of approximately 60% and more survivors usually suffering
neurological impairment. Maternal outcome in mothers who have suffered
a cardiac arrest is complicated by the fact that many are left with serious
neurological impairment.

Prolapsed umbilical cord

A cord presentation is defined as the presence of the cord between the
presenting part and the membranes, prior to membrane rupture. Prolapse
umbilical cord refers to the same situation after membrane rupture. The
cord can remain in the vaginal (occult prolapse) or can prolapse through
the introitus with loops lying outside the vagina. This is a true obstetric
emergency requiring immediate action.

Epidemiology the incidence is related to presentation (vertex 0.4%,
frank breech 0.5%, flexed breech 4-6% and footling breech 15-18%).
Any obstetric condition that precludes a close fit between the fetus and
the pelvic inlet makes a cord prolapse more likely, particularly breech
presentation, malposition, preterm gestation, polyhydramnios, fetal
growth restriction and placenta praevia. Other predisposing factors
include a long umbilical cord, artificial rupture of membranes and being a
second twin.

Clinical features and investigations there are two types of insult to the
cord, both of which may lead to cessation of fetal blood flow and fetal
Page | 693

death. Firstly there is direct compression by the fetal body against the
maternal pelvis and secondly there is likely to be cord spasm from
exposure to the cool external atmosphere or excessive handling of the
cord. CTG usually indicates fetal compromise in the form of deep variable
decelerations or a single prolonged deceleration. In some instances the
cord is clearly visible protruding through the vagina. It is important to
routinely exclude cord prolapse following artificial membrane rupture or in
the presence of variable decelerations of acute onset.

Management it is important to act quickly provided the maternal
condition is stable. If there is any possibility that a fetal heartbeat is still
present then the baby should be delivered immediately. If the cervix is
fully dilated this should be by forceps or ventouse or via c-section if not.
To protect the cord from occlusion during the transfer to theatre the
woman should be placed in the head-down position and a hand placed in
the vaginal to lift up the presenting part of the cord and prevent cord
compression. Another reasonable approach is to insert a catheter and fill
the maternal bladder with 500ml fluid. The bladder should be emptied
before starting the c-section. The cord should be kept within the vagina
and handled as little as possible to avoid spasm. A tocolytics should be
given to minimise contractions. If there is any doubt in fetal viability then
it is important to establish this before embarking down surgical routes.
The absence of cord pulsation does not necessarily indicate fetal death,
particularly if the prolapse is acute.

Prognosis fetal mortality has been reduced over the years but still
remains at 10%.

Retained placenta

This is defined as failure to deliver the placenta within 30 minutes of
delivery of the fetus. A retained placenta increases the risk of PPH by a
factor of 10 owing to the inability of the uterus to contract down
completely. This risk appears to be maximal at 40 minutes after delivery.
Such haemorrhage can be severe and life-threatening, particularly if there
is a partial separation.

Epidemiology this occurs in 2-3% of all retained vaginal deliveries and is
more likely with preterm gestations. If the baby is delivered before 37
weeks the incidence increases by a factor of three and if delivered at 26
weeks this risk is increased by a factor of 20. It is also more common
after a previous caesarean section and rarely this is associated with a
morbidly adherent placenta.

Pathology during childbirth 90% of placentas are usually delivered
within the first 15 minutes. Placental delivery is usually preceded by signs
of placenta separation i.e. lengthening of the cord, a sudden small gush of
Page | 694

dark blood and increased mobility of the uterus. Failure to deliver may
occur because of an usually adherent unseparated placenta or because
the placenta has separated successfully but is retained within the uterus
by a partially close cervix. Failure of separation is the more worrying of
these situations.

An adherent placenta is the result of abnormal placental implantation
during the first trimester. Normally the invading fetal trophoblast cells are
arrested by the maternal decidual barrier. If the maternal decidual layer is
ineffective then the trophoblast cells may invade further and even into the
myometrium or serous layers. A cause of this can be a past c-section
which leads the decidua thin and scarred. When over invasion occurs and
the placenta is overly adherent this is termed placenta accreta. Other risk
factors include a previous retained placenta, high parity, advanced age,
placenta praevia and previous dilatation and termination.

The degree of placental invasion can be divided into placenta accreta (75-
78% - myometrium), placenta increta (17% - deeply into myometrium)
and placenta percreta (5-7% - through myometrium and into outer
serous layer, potentially even invading other organs). The placenta is
unable to separate after delivery and partial separation or iatrogenic
effect can lead to profound haemorrhage.

Management if the placenta is bleeding heavily a retained placenta is an
obstetric emergency and treatment must be immediate. Aside for the
initial resuscitation measures the patient should be transferred to theatre
for manual removal of the placenta. If there is no bleeding an initial
conservative approach can be adopted. IV access should be established
and cross match arranged in case bleeding begins, and it is reasonable to
wait an hour or so for spontaneous expulsion. In the interim the use of
syntocinon, the rubbing up of a contraction, or breastfeeding, with its
resultant physiological release of oxytocin, may help aid expulsion.

If the placenta is retained for over an hour then it needed to be surgically
removed. A hand is placed through the cervix in order to identify the
cleavage plane whilst supporting the fundus of the uterus with the other
hand. The placenta can then be gently stripped off the uterine wall and
delivered. Once it is out a contraction should be rubbed up and a bolus of
syntocinon given IV to reduce the risk of PPH due to an atonic uterus. The
procedure should be covered with antibiotics as there is a significant
association between manual removal of the placenta and postpartum
endometritis. If this procedure is not possible then the diagnosis is
placenta accreta. If there is persistent bleeding then a hysterectomy is
often required. It may be possible to stop the bleeding using Tamponade
techniques (using balloons or material to pack the uterus). If there is no
active haemorrhage suction curettage or conservative management are
Page | 695

options. If the placenta is left in situ to absorb over time then there is a
significant incidence of major complications from infection and bleeding.

Shoulder dystocia

This is one of the most frightening and threatening obstetric emergencies.
There is a need to act quickly in order to prevent serious fetal morbidity
and mortality.

Definition the fetal anterior shoulder becomes impacted behind the
symphysis pubis, preventing delivery. Clinically it is defined as difficulty
delivering the shoulders requiring obstetric manoeuvres beyond
episiotomy and moderate downwards traction. Although the incidence
overall is around 0.2%, it rises to 0.5% with a fetal weight of over 3.5kg
and 10% with a weight of over 4.5kg. Shoulder dystocia accounts for 8%
of all intrapartum fetal deaths.

Risk factors these have very little predictive value and 50% of shoulder
dystocia occurs in normal sized fetuses and 98% if large fetuses do not
have dystocia. Risk factors include macrosomia, past history of dystocia,
diabetes, post dates, obese mother, high parity, male fetus, prolonged
first stage of labour, secondary arrest >8cm, mid cavity arrest,
forceps/ventouse delivery and difficulty delivering the chin.

Clinical features the babys head is often delivered as far as the chin
and the fetal body is in the pelvis. The head often retracts tightly against
the perineum and vulva (called the turtle sign) and should raise the
possibility of impending dystocia. The umbilical cord is trapped and
occluded between the fetal trunk and the maternal pelvis, leading to rapid
fetal hypoxia and death. The pH drops by an estimated 0.04 per minute
and therefore takes around 7 minutes for it to fall below 7.00 in an
uncompromised fetus. It is estimated that half of deaths occur in 5
minutes. Neonatal morbidity may result from brachial plexus damage due
to excessive downward traction of the head during attempts at delivery. It
is possible to damage nerve roots at C5-T1 (Erbs palsy is C5-6). While
the main concerns for shoulder dystocia relate to the fetus, there may
also be maternal complications in the form of genital tract trauma and
atonic postpartum haemorrhage. Uterine rupture is rare.

Management the aim is to disimpact the anterior shoulder and allow the
fetus to be delivered. There are a series of manoeuvres with the
pneumonia HELPERR which are used to help achieve this, with each being
tried for a maximum of 30 seconds before moving to the next.

Help
Evaluate consider an episiotomy
Page | 696

Legs move to the McRoberts position. With one midwife on each
leg the mothers legs are flexed hard against her abdomen and at
the same time slightly abducted outwards. This is successful in 40-
60% of cases and helps by rotating the symphysis towards the
maternal head.
Pressure suprapubic pressure is applied to the posterior aspect of
the anterior fetal shoulder at an angle of 45 degrees towards the
fetal chest in an attempt to rotate the shoulder into the oblique and
also to reduce the bisacromial diameter. A rocking movement may
also be tried
Enter Woods and reverse Woods. The attendant aims to
internally rotate the baby. Hands should enter the vagina at the 5
and 7 oclock position, depending on where the fetal back is, The
middle and index fingers are placed on the posterior aspect of the
anterior shoulder and an attempt is made to rotate it forwards. If
this fails then this hand is kept still and the other hand is used to
try to rotate the baby the other way. If this fails then the hands are
moved and the same is tried on the posterior shoulder.
Remove the posterior arm. The hand of the operator is passed
into the hollow of the sacrum, fetal elbow identified, the forearm is
flexed and then delivered by sweeping it across the fetal chest and
face. Fractures of the humerus are not uncommon.
Roll over. It is possible to displace the anterior shoulder during
the act of turning the mother over into the all fours position. If not,
an attempt can be made to deliver the posterior shoulder first, i.e.
the shoulder nearest the ceiling. It is possible to try all the
manoeuvres again in this position (except suprapubic pressure),

If all else fails there are three last resort measures. These include a
symphysiotomy (splitting the symphyseal joint with a scalpel), deliberate
fracture of the clavicles of the fetus, and the Zavanelli manoeuvre
(replacing the head with flexion and rotation and delivering by c-section).

Uterine inversion

This is rare but can quickly lead to maternal death and it is an extremely
significant third stage complication. The uterus may undergo varying
degrees of inversion and, in its extreme form, the fundus may pass
through the cervix such that the whole uterus is turned completely inside
out. As there is a rich vagal supply to the cervix, the inversion leads to
profound vasovagal shock and this may be exacerbated by a massive PPH
secondary to uterine atony.

Pathology this occurs with active management of the third stage, that is
to say it is usually iatrogenic associated with cord traction before the
uterus contracts. It is more likely with a fundal placenta along with a
previous history, fundal placental implantation and uterine atony.
Page | 697

Clinical presentation with complete inversion the uterus will appear as a
bluish-grey mass protruding from the vagina, and in extreme cases there
may also be vagina eversion. The placenta remains attached in around
half of cases. If the inversion is partial then there may only be profound
shock out of proportion to the blood loss. The diagnosis will require a VE
although it is often suspected on abdominal palpation.

Management 90% of patients will have immediate, potentially major life
threatening haemorrhage. In order to reduce the vasovagal induced shock
and haemorrhage it is imperative to replace the uterus as quickly as is
practical. Immediate resuscitation is required. No attempt should be made
to separate the placenta as this may exacerbate the haemorrhage. One
method of reduction is to grasp the uterine fundus with the fingers
directed towards the posterior fornix and replace the uterus back into the
vagina, pushing the fundus towards the umbilicus and allows the uterine
ligaments to pull the uterus back into position. Alternatively the centre of
the uterus may be indented with three or four fingers and only the centre
of the fundus pushed up until it re-inverts. Once re-inversion has occurred
the hand inside the uterus should maintain pressure on the uterine fundus
until oxytocics have been given in order to maintain a contracted uterine
state and prevent recurrence. Should this fail then 2 litres of warmed fluid
should be placed into the vagina causing distension of the vault and
allowing the uterus to return to its normal position. Should this all fail
then a laparotomy is required.

Uterine rupture

Loss of integrity of the wall of the uterus may occur either suddenly, or
more gradually during the progress of labour. The uterine cavity may
communicate directly with the peritoneal cavity (complete) or be
separated by the visceral peritoneum of the uterus (incomplete). A
complete uterine rupture is a life threatening emergency often resulting in
fetal death, and may lead to maternal death from massive intra-
abdominal haemorrhage. Early recourse to c-section in high-risk parous
labours with signs of obstruction is likely to reduce incidence.

Epidemiology this is rare in multiparous women who have had previous
vaginal deliveries and virtually unheard of in primigravidae. It does,
however, complicate 0.6% of deliveries in those who have had a previous
caesarean section, with the rupture occurring at the side of the caesarean
section incision. The risk increase further when oxytocin is used.
Prostaglandin use is a particular risk and it is assumed that the
consequent powerful contractions place a greater strain on the scar. The
risk is increased yet again if the previous caesarean section was a
classical incision rather than lower segment and up to a third of these
Page | 698

pregnancies may be complicated with rupture, even before term. Most of
these women would be offered an early caesarean section.

Pathology with complete rupture the fetus may be extruded into the
abdominal cavity. As the rupture can extend laterally into the uterine
arteries or broad ligament plexus of veins, there is often severe
haemorrhage. Rarely, rupture may occur following direct abdominal
trauma, for example an RTA. In caesarean scar dehiscence the fetal
membranes remain intact. There is usually minimal bleeding and the
rupture does not usually involve the entire scar length. Occasionally these
are found incidentally at c-section for other reasons.

Risk factors these can be divided into antepartum and intrapartum
causes. Antepartum rupture (rare) risks include certain congenital
malformations of the uterus, external trauma, classical c-section, previous
uterine trauma/surgery and ECV. Intrapartum rupture risk factors include
previous caesarean section, oxytocin in the multiparous mother,
precipitate delivery, obstructed labour, operative vaginal delivery,
shoulder dystocia, breech extraction and difficult manual removal of
placenta.

Clinical features the most common sign of uterine rupture is that of fetal
compromise indentified by acute onset of significant CTG changes. This
occurs in 70%. Other features include maternal tachycardia, vaginal
bleeding, abdominal pain and easily palpable fetal parts per abdomen.
Occasionally the fetal head is felt to have risen higher on VE, Dehiscence
or rupture may occasionally be identified as a VE for postpartum
haemorrhage.

Management if uterine rupture is suspected then the initial drill is to
summon help and provide resuscitation. This is followed by emergency
laparotomy to deliver the baby. At the time of laparotomy it may be
possible to repair the defect, especially if this is simple dehiscence of a
previous caesarean section. If there is massive haemorrhage or it does
not involve a previous scar then an emergency haemorrhage is likely to
be required.

Prognosis - with complete rupture and expulsion of the fetus into the
abdominal cavity the perinatal mortality rate approaches 75%. If
untreated most women would die for infection and haemorrhage.

Chapter 45 Operative delivery

Page | 699

This describes both caesarean section and instrumental deliveries. They
may be used in the presence of fetal distress or for a delay or failure to
progress despite good contractions and maternal effort. The choice of
techniques depends largely on the stage of labour, with instrumental
delivery only being possible in the second stage.

Instrumental vaginal delivery

The most common indications for instrumental delivery are presumed
fetal distress and second stage delay. The following criteria must be
fulfilled before the procedure can be carried out:
Consent from the mother
Cervix fully dilated with membranes ruptured
The head at spines or below with no head palpable abdominally
The position of the head known
The bladder empty
Analgesia satisfactory

A very careful assessment is needed prior to instrumental delivery and
should include an abdominal palpation. There should be no head palpable
above the symphysis but occasionally 1/5 is acceptable in the
occipitoposterior position. One of the biggest difficulties is being sure of
the fetal position before applying the forceps or ventouse. If there is
suspicion that the head is occipitotransverse then it can be useful to try to
feel an ear near the symphysis pubis. In addition to an attending midwife,
a practitioner experienced in neonatal resuscitation should be present and
the anaesthetist is frequently involved in the provision of adequate
analgesia. Umbilical artery and vein acid-base status should be routinely
recorded immediately after delivery. The choice is between forceps and
ventouse.

Forceps delivery

There are three main types of obstetric forceps:
Low-cavity outlet forceps which are short and light, and are used
when the head is on the perineum
Mid-cavity forceps for use when the sagital suture is in the
anteroposterior plane
Kiellands forceps for rotational delivery to occipitoanterior or
occipitoposterior position. The reduce pelvic curve allows rotation
about the axis of the handle

Low- or mid-cavity non-rotational forceps the mother should be placed
in the lithotomy position with her bottom just over the edge of the bed.
Using an aseptic technique the perineum is cleaned and draped, the
bladder emptied, and the vaginal examination findings rechecked. A
pudendal nerve block and perineal infiltration are inserted if required, and
Page | 700

the forceps assembled discreetly in front of the perineum before
application, care being taken to ensure that the pelvic curve will be sitting
over the malar aspect of the babys head, convex towards to babies face.
Traction is applied in conjunction with the uterine contractions and
maternal effort.

Rotational forceps these lack the pelvic curve and can be applied
directly to the babys head, if occipitoposterior, to allow gentle rotation to
occipitoanterior. After rotation delivery is as for above. These forceps
require considerable skill and may be associated with greater maternal
injury than rotational ventouse. Manual rotation is sometimes possible,
using the left hand for ROT positions and the right hand for LOT. If
rotation is a success then it is necessary to hold the head in this new
position to prevent it turning back.

Ventouse

The advantage here is that less pelvic space is required than with forceps.
With forceps the diameter of the presenting part includes the fetal head
and the width of the forceps whereas with ventouse it is only the diameter
of the head which needs to be delivered. There is, however, a greater risk
of failure but less anaesthesia is needed, there is less perineal or vaginal
trauma, more cephalohaematomas, more retinal haemorrhages and more
low Apgar scores at 5 minutes. The use of soft silastic cups is associated
with a higher failure rate than with metal cups but a lower incidence of
neonatal scalp injuries. Silastic cups are therefore often used for
occipitoanterior deliveries and a metal occipitoposterior cup for transverse
and posterior malpositions. Disposable cups are also available which are
powered by a hand pump.

The cup should be placed in the midline overlying, or just anterior to, the
posterior fontanelle in order to encourage flexion of the head. Failure to
correctly position the cup is the commonest reason for failure. Suction is
applied, care being taken to ensure the vaginal skin is not included under
the cup. Traction is also applied downwards, as for forceps, but delivery is
much more likely to be successful if traction is timed with contractions
and maternal effort. The risk of significant fetal injury is increased with
the duration of application.

Although it has been suggested that ventouse should not be used at
gestations of less than 36 weeks because of the risk of
cephalohaematoma and intracranial haemorrhage, a case control study
suggests that this may be unnecessary. There is a minimal risk if used
after fetal scalp blood sampling or the application of a fetal scalp
electrode. Forceps delivery before full cervical dilatation is contraindicated
and only in exceptional circumstances can ventouse be used.

Page | 701

Caesarean section

The can be:
Pre-labour this can be electively, for example with placenta
praevia, severe fetal growth restriction, severe eclampsia,
transverse lie or breech presentation, or as an emergency
In labour (i.e. emergency) usually for the reasons listed for a
forceps delivery, if the cervix is not fully dilated or if the mother is
unsuitable for vaginal delivery.

Maternal mortality is higher for emergency caesarean section than
elective. Overall there is also a significant morbidity from thromboembolic
disease, haemorrhage and infection. Deaths from VTE have been
dramatically reduced from the use of appropriate thromboprophylaxis.
Lower uterine segment c-section is by far the most commonly used
technique and has a lower rate of subsequent uterine rupture, together
with better healing and fewer postoperative complications. A classical c-
section (vertical uterine scar) will provide better access for a transverse
lie following ruptured membranes, or with very vascular placenta praevia,
a very preterm fetus or with lower segment fibroids. The risk of scar
rupture in future pregnancies is much higher. Preparations include getting
consent, IV access, group and save, sodium citrate (+/- ranitidine),
appropriate VTE prophylaxis, anaesthesia, antibiotic prophylaxis and
bladder catheterisation.

The woman is put on a left lateral tilt to avoid aortocaval compression and
a lower abdominal transverse incision is made, cutting through the fat
and the rectus sheath to open the peritoneum. The bladder is freed and
pushed down and a transverse lower segment incision is made in the
uterus. If the presentation is cephalic then the head is encourage through
the incision with firm fundal pressure from the assistant. If the baby is
breech then traction is applied to the babys pelvis to deliver the bottom
first. If transverse then a leg should be identified and pulled to deliver the
baby.

Caesarean section on maternal request

Women who have previously has a difficult delivery may occasionally
request an elective caesarean section. Although in many cases a more
straight forward delivery may be anticipated next time, careful
consideration of the advantages and disadvantages is required. In general
women with a previous caesarean section for a non-recurrent indication
i.e. breech, should be offered a trial of labour (vaginal birth after c-
section VBAC) but a caesarean can still be considered. Some women
may request a caesarean section for their first delivery where there is no
obstetric or medical indication.

Page | 702

Chapter 46 Stillbirth and neonatal death

Definitions

Stillbirth Any fetus born with no signs of life, after 24 weeks of
gestation
Early neonatal death death in the first 6 days of life
Late neonatal death deaths from age 7 days to 27 completed days
of life
Perinatal deaths All stillbirths, plus deaths in the first week of life
Perinatal mortality rate (PNMR) the number of perinatal deaths
per thousand live and stillbirths
Post-neonatal deaths deaths at and beyond 28 days but under 1
year
Infant death deaths at age under 1 year

Stillbirth

Immediate management of in-utero fetal demise

In the absence of some obvious precipitating event, the diagnosis is often
first suspected because of reduced fetal movements. Further suspicion is
raised when the fetal heart cannot be heard and diagnosis is usually
confirmed by ultrasound scan. Before going into management options the
parents need to be given time by themselves to organise themselves and
deal with the sudden shock. Labour will need to be induced. The
technique is much the same as for any labour induction, although there is
probably a useful role for 48 hours of pre-labour preparation with
Mifepristone. Some parents may not want the delay while others may
value a day or two at home before having to undergo such a physically
and emotionally draining event.

All appropriate analgesia should be offered and experienced supportive
midwifery care is vital. In general it is preferable to delay membrane
rupture as long as reasonably possible, as the risk of chorioamnionitis is
probably increased in comparison to live births. After delivery the parents
should be encouraged to see and hold their baby. Patients often find it
useful to have photographs of the baby, as well as hand-prints, foot-
prints and a lock of the babys hair. Some hospitals have a bereavement
counsellor whose role is to explain the legal requirement of registration
and discuss funeral arrangements. It is vital that the community midwife
and GP are given the information about the loss of pregnancy.

Investigation

Page | 703

All parents will be asked the question why? and most will want a full
range of investigations to be carried out in order to establish both
diagnosis and prognosis. Maternal blood tests should be sent to look for:
Evidence of congenital infection with toxoplasmosis, rubella,
cytomegalovirus or human parvovirus.
Lupus anticoagulant and antiphospholipid antibodies. These are
associated with recurrent miscarriages, stillbirth, arterial and
venous thrombosis, fetal growth restriction, pre-eclampsia and
thrombocytopenia. There is evidence that giving low dose aspirin
can help prevent this.
Diabetes
Fetomaternal haemorrhage with Kleihauer test
Isoimmunisation, either rhesus or non-rhesus

A post-mortem examination is extremely important. It is very rare for
parents to regret this being carried out and it is not possible to have a
useful post-mortem at some later stage if the parents change their minds.
The post-mortem will include measurements of the babys length and
weight, and a detailed external inspection, particularly of the limbs and
face. A systematic internal examination is then carried out to look for any
malformations of the viscera, limbs or genitalia. Genetic advice may be
sought and a karyotype is often checked using samples of skin or blood.
Histology is usually carried out on significant organs and x-rays taken if
there is a suspicion of skeletal dysplasia. Placental examination, both
macro and microscopic, can provide useful information as to the cause of
death. There may be a retroplacental clot indicating a placental abruption,
or the aberrant vascular supply of vasa praevia. Atheromatous deposits
throughout the placenta may be indicative of poor placentation and may
explain fetal growth restriction or hypoxia as a cause of death.

Causes of stillbirth

Rates have been falling, probably because of improved overall maternal
health, better nutrition and wider education. Currently the rate stands at
5.5/1000 births and has not changed for many years. The obstetric
classification of stillbirth is as follows:
Unexplained <2500g often associated with prematurity (40%)
Unexplained >2500g 27%
Antepartum haemorrhage abruption and placenta praevia (11%)
Congenital anomaly structural, genetic or biochemical (11%)
Hypertension of pregnancy 4%
Maternal disorder e.g. surgery, trauma, diabetes (4%)
Trauma/mechanical e.g. cord prolapse (3%)
Miscellaneous 1%
Isoimmunisation 0%

Page | 704

Congenital abnormalities these may or may not have been diagnosed
antenatally. Despite antenatal screening for structural defects, many
cardiovascular conditions remain unrecognised. Detailed US views of the
heart can be difficult to assess with repeatable accuracy, and cardiac
abnormalities make up the largest group of lethal congenital anomalies.
The incidence of neural tube defects seems to be falling due to an
increased number of early terminations following antenatal diagnosis and
also a background reduction independent of this.

Follow up and subsequent pregnancy this should be 4-8 weeks after
delivery. This allows the doctor to discuss all the factors involved and the
likelihood of recurrence. In the absence of any identifiable cause however,
it is difficult to monitor for problems. More frequent antenatal visits may
also provide reassurance, particularly growth scans every few weeks from
24 weeks onwards. By 38-39 weeks many couples will be anxious and
seek to have the labour induced. However this does carry risks of fetal
distress and hyperstimulation whilst conservative management carries a
very small risk of fetal demise.

Neonatal mortality

This is the loss of a live-born baby within the first 4 weeks of life.
Perinatal mortality is the sum of still births and early neonatal mortality
(within the first 7 days from birth).

Western causes of neonatal mortality the major causes include
congenital anomaly (31%), lung immaturity (21%), anoxia/birth trauma
(19%) and infection (13%). Although only about 8% of babies are born
prematurely, this group contains almost 80% of perinatal deaths. The
causes of death amongst this group are varied but the majority are from
either RDS secondary to lung immaturity or due to neonatal infection.

Advances in neonatal care have improved the survival of many premature
infants, but particularly with the development of improved ventilation
techniques and exogenous surfactant administration. Epidemiologists
associated perinatal mortality with three factors: maternal age, parity and
socioeconomic class.

Maternal age this safest time to have children is between 25 and 29
with the highest rates of neonatal mortality being in babies who are born
to women under the age of 20 and over the age of 35. These increases at
the extremes of reproductive life are due to the higher incidence of
medical conditions and higher parity in women over 35, and the lack of
antenatal care and support that often occurs in women under the age of
20.

Page | 705

Parity the safest pregnancies appear to be the second and third. First
pregnancies are associated with a higher incidence of problems such as
Proteinuric hypertension and obstructed labour. Higher parity is often a
reflection of increasing maternal age so medical complications are
commoner.

Social class there is a steady increase in neonatal mortality as social
class falls.

Other factors reproductive history is important as the risk of perinatal
death is increased if the previous pregnancy ended in premature birth,
miscarriage or perinatal death. Ethnic factors are also important. Some
women may experience communication problems, may have inadequate
antenatal care, may be at increased risk because of consanguinity and are
more likely to decline termination of a diagnosed lethal anomaly.

Chapter 47 Neonatal resuscitation

Clamping the cord after delivery leads to acute hypoxia. The later is
thought to be the major stimulate for a baby to start breathing. Physical
stimuli such as cold air, rubbing, or physical discomfort may also provoke
respiratory efforts. If the baby fails to start breathing, the babys oxygen
concentrations fall further; the baby loses consciousness and enters
primary apnoea. After 5-10 minutes of primary apnoea the spinal centres,
which are normally suppressed by higher centres, begin to cause
shuddering of the babys body at a rate of approximately 12 per minutes
(agonal gasps). Once this stops the baby enters secondary apnoea and
without intervention the outcome is death. The only way of assessing
whether the infant is in primary or secondary apnoea is by assessing its
response to resuscitation. If in primary apnoea then nearly all will start
breathing in a few minutes but if secondary then the baby will gasp for
some time before starting regular respiration. However, both are initially
managed in the same way.

Practical aspects

Most babies born in primary apnoea will resuscitate themselves within 60-
90 seconds given a clear airway. The basic approach to all resuscitation is
therefore airway, breathing and circulation, but there are a number of
additions that will be considered in more detail. These include starting the
clock, keeping the baby warm and dry, assessing colour, tone, respiration
and heart rate and then commencing resuscitation.

Page | 706

Dry, wrap and keep the baby warm dry the baby immediately and then
wrap in a warm dry towel. A naked, wet baby can still become
hypothermic despite a warm room, especially if there is a draught. Cold
babies have increased oxygen consumption and are more likely to
become hypoglycaemic and acidotic. They also have an increased
mortality. Most of the heat loss is by evaporation and hence the baby
should be dried first. Babies also have a large surface area to weight ratio
so heat is lost quickly.

Assessment the Apgar score is a tool for evaluation the babys condition
at birth. Although the score, calculated at 1 and 5 minutes, may be of
some use retrospectively, it is usually recorded subjectively.

Feature 0 1 2
Colour White Blue Pink
Tone None Poor Good
Heart Rate <60bpm 60-100bpm >100bpm
Respiration None Gasping Vigorous
Response to
stimulation
None Minimal Vigorous

An acute assessment will usually classify the baby into one of the three
colour groups:
Pink regular respirations, heart rate fast. These are healthy babies
who should be kept warm and given to their mothers
Blue irregular or inadequate respirations, heart rate slow. If
gentle stimulation does not induce effective breathing, the airway
should be opened.
Blue or white apnoeic, heart rate slow. Resuscitate.

Open the airway, and look to see whether the chest is rising or falling. A
reassessment of any heart rate response then directs further
resuscitation. Reassess heart rate and respirations regularly (every 30
seconds ideally).

Airway

Position the baby with the head in the neutral position (i.e. face parallel to
ceiling). Overextension may collapse the newborn babys pharyngeal
airway just as will flexion. A folded towel placed under the neck and
shoulders may be helpful in maintaining this position whilst a jaw thrust is
given to open the airway and bring the tongue forward, especially if the
baby is floppy. Suction of the airways with a soft catheter should only be
carried out under direct vision of the cords.

Meconium stained liquor is relatively common. Meconium aspiration is a
rare event and often occurs in utero before delivery. If the baby is
Page | 707

vigorous, no specific action is needed but if not then the oropharynx
should be inspected with a laryngoscope and aspirate any particulate
meconium using a soft catheter. If the baby is still not breathing then
intubation may be needed with an endotracheal tube and then this can be
used to suck out the trachea.

Breathing

The first five breaths should be inflation breaths. These should be 2 to 3
second sustained breaths using a continuous gas supply, a pressure-
limiting device, and a mask. If no system is present then a 500ml self-
inflating bag and a blow-off valve set at 30-40cm H
2
O pressure can be
used. The mask should carry the babys nose and mouth. The use of
oxygen probably carries no benefits over air on term babies. The chest
may not move in the first one to three breaths as fluid is displaced. Once
the chest is inflated reassess the heart rate. Assess air entry by chest
movement, not by auscultation. In fluid-filled lungs, breath sounds may
be heard without lung inflation. If the heart rate responds it is safe to
assume that the chest has be inflated successfully.

A Guedel airway may be used to help maintain the airway. It should be
inserted under direct vision with a laryngoscope. The correct size of
airway should reach from the middle of the chin to the angle of the jaw.
Once the chest is inflated, ventilation is continued at a rate of 30-40
ventilations per minute.

Circulation

If the heart rate remains slow one the lungs are inflated, cardiac
compressions must be started. Compress the chest briskly to one-third of
its diameter using a few fingers or by wrapping your hands around the
childs chest and using your thumbs. The purpose of cardiac compression
is to move a small amount of oxygenated blood or drugs to the coronary
arteries in order to initiate cardiac recovery. There is therefore no point in
compressions until the lungs have been inflated. Similarly compressions
are ineffective unless interposed breaths are of good quality and inflate
the chest. Once the heart rate is above 60bpm and rising, cardiac
compression can be discontinued.

Drugs

If, after adequate lung inflation and cardiac compression, the heart rate
has not responded, drug therapy should be considered. The most
common reason for failure of the heart rate to respond is failure to
achieve lung inflation so airway and breathing must be adequate before
using drugs. Venous access will be required via an umbilical venous line,
as drugs can be given centrally.
Page | 708

Adrenaline given for profound unresponsive bradycardia or
circulatory standstill
A bolus of dextrose if hypoglycaemic
Volume expansion if there is thought to be blood loss. This is with
saline or with non-cross matched O-ve.
If maternal opiates are causing respiratory depression with good
ventilation and adequate heart rate then IM naloxone may be
needed.

Response to resuscitation

Usually the first indicator of success is an increase in heart rate.
Recovered of respiratory drive may be delayed. Babies in terminal apnoea
will tend to gasp first as they recover, before starting normal respirations.

Tracheal intubation

Most babies can be adequately resuscitated using a mask. However
endotracheal intubation remains the gold standard in airway
management. It is especially useful in prolonged resuscitation, preterm
babies and cases of meconium aspiration. It should be considered if mask
ventilation has failed, although the most common reason for failure with
mask inflation is poor positioning of the head with consequent failure to
open the airway.

Preterm babies

The more preterm a baby is, the less likely it is to establish adequate
respiration. Preterm babies (especially <32 weeks) are likely to be
deficiency in surfactant and so the effort to breath is greater yet the
muscles are less developed. Preterm babies are also more likely to
become cold and hypoglycaemic. These babies need to be put in a plastic
bag immediately under the resuscitaire, leaving the face exposed and
covering the head with a hat.

Action in the event of poor initial response to ventilation

Consider the following:
Is the baby in the neutral position?
Is there a good seal on the mask?
Do you need a jaw thrust?
Check for airway obstruction
Consider Guedel airway
Is mask ventilation effective
Is the endotracheal tube correctly placed
Does the baby have a pneumothorax
Page | 709

Does the baby remain cyanosed despite breathing with a good heart
rate?

Discontinuation of resuscitation

The outcome of a baby with no cardiac output after 15 minutes of
effective full resuscitation is likely to be very poor. The decision to
discontinue resuscitation should be taken by a senior member of the
team, ideally a consultant.

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