Paediatrics Flashcards
What are the 7 treatment steps for asthma for kids aged 5-16
Step Notes
1: Newly-diagnosed asthma Short-acting beta agonist (SABA)
2: (Not controlled on previous step
OR
Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking)
SABA + paediatric low-dose inhaled corticosteroid (ICS)
3 SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
4 SABA + paediatric low-dose ICS + long-acting beta agonist (LABA)
In contrast to the adult guidance, NICE recommend stopping the LTRA at this point if it hasn’t helped
5 SABA + switch ICS/LABA for a maintenance and reliever therapy (MART), that includes a paediatric low-dose ICS
6 SABA + paediatric moderate-dose ICS MART
OR consider changing back to a fixed-dose of a moderate-dose ICS and a separate LABA
7 SABA + one of the following options:
-increase ICS to paediatric high-dose, either as part of a fixed-dose regime or as a MART
-a trial of an additional drug (for example theophylline)
-seeking advice from a healthcare professional with expertise in asthma
Describe the stepwise approach for asthma in children less than 5 years old
1
Newly-diagnosed asthma Short-acting beta agonist (SABA)
2
Not controlled on previous step
OR
Newly-diagnosed asthma with symptoms >= 3 / week or night-time waking SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS)
After 8-weeks stop the ICS and monitor the child’s symptoms:
-if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
-if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
-if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
3 SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
4 Stop the LTRA and refer to an paediatric asthma specialist
How much budesonide is in paediatric low / moderate / high dose ICS inhalers
<= 200 micrograms budesonide or equivalent = paediatric low dose
200 micrograms - 400 micrograms budesonide or equivalent = paediatric moderate dose
> 400 micrograms budesonide or equivalent= paediatric high dose.
Severe asthma attack
-Sp02
-PEF
-HR
-RR
-clinical feature
Severe attack
SpO2 < 92% (unlike in adults, SpO2 < 92% may be consistent with a ‘severe’ attack in children)
PEF 33-50% best or predicted
Too breathless to talk or feed
Heart rate
>125 (>5 years)
>140 (1-5 years)
Respiratory rate
>30 breaths/min (>5 years)
>40 (1-5 years)
Use of accessory neck muscles
What are the features of life-threatening asthma attack in children?
SpO2 <92%
PEF <33% best or predicted
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
What is the treatment for children with mild-moderate acute asthma exacerbation?
For children with mild to moderate acute asthma:
Bronchodilator therapy
give a beta-2 agonist via a spacer (for a child < 3 years use a close-fitting mask)
give 1 puff every 30-60 seconds up to a maximum of 10 puffs
if symptoms are not controlled repeat beta-2 agonist and refer to hospital
Steroid therapy
should be given to all children with an asthma exacerbation
treatment should be given for 3-5 days
Describe the usual prednisolone dose for children aged:
2-5yrs
>5yrs
Age Dose as per BTS Dose as per cBNF
2 - 5 years 20 mg od 1-2 mg/kg od (max 40mg)
> 5 years 30 - 40 mg od 1-2 mg/kg od (max 40mg)
what are the two different types of preschool wheeze?
Over recent years, led by the European Respiratory Society Task Force, the favoured classification for pre-school wheeze is to divide children into one of two groups;
-episodic viral wheeze: only wheezes when has a viral upper respiratory tract infection (URTI) and is symptom free inbetween episodes
-multiple trigger wheeze: as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke
Episodic viral wheeze is not associated with an increased risk of asthma in later life although a proportion of children with multiple trigger wheeze will develop asthma.
What is the management of episodic viral wheeze?
Episodic viral wheeze
-treatment is symptomatic only
-first-line is treatment with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer
-next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both
-there is now thought to be little role for oral prednisolone in children who do not require hospital treatment
What is the management of multiple trigger wheeze?
Multiple trigger wheeze
trial of either inhaled corticosteroids or a leukotriene receptor antagonist (montelukast), typically for 4-8 weeks
What is acute epiglottitis in children caused by?
Haemophilus influenzae
Give 5 clinical features of acute epiglottitis in children?
Features
-rapid onset
-high temperature, generally unwell
-stridor
-drooling of saliva
-‘tripod’ position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
What is the diagnosis of acute epiglottitis in children?
Diagnosis is made by direct visualisation (only by senior/airway trained staff, see below). However, x-rays may be done, particularly if there is concern about a foreign body:
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
in contrast, a posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’
What is the management of acute epiglottitis in children?
Management
immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT)
endotracheal intubation may be necessary to protect the airway
if suspected do NOT examine the throat due to the risk of acute airway obstruction
the diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary
oxygen
intravenous antibiotics
What is bronchiolitis?
-who is affected?
-Which maternal abs provide protection against this?
Bronchiolitis is a condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases. NICE released guidelines on bronchiolitis in 2015. Please see the link for more details.
Epidemiology
most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV
higher incidence in winter
What is the most common cause of RSV?
Give 5 clinical features
Basics
respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
other causes: mycoplasma, adenoviruses
may be secondary bacterial infection
more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis
Features
-coryzal symptoms (including mild fever) precede:
-dry cough
-increasing breathlessness
-wheezing, fine inspiratory crackles (not always present)
-feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
What 5 features would warrant 999 call for bronchiolitis?
NICE recommend immediate referral (usually by 999 ambulance) if they have any of the following:
-apnoea (observed or reported)
-child looks seriously unwell to a healthcare professional
-severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
-central cyanosis
-persistent oxygen saturation of less than 92% when breathing air.
Which 3 features would warrant you to consider referral for bronchiolitis?
NICE recommend that clinicians ‘consider’ referring to hospital if any of the following apply:
-a respiratory rate of over 60 breaths/minute
-difficulty with breastfeeding or inadequate oral fluid intake (50-75% of usual volume ‘taking account of risk factors and using clinical judgement’)
-clinical dehydration
What is the investigation and management of bronchiolitis?
Investigation
immunofluorescence of nasopharyngeal secretions may show RSV
Management is largely supportive
humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth
suction is sometimes used for excessive upper airway secretions
What is croup? What is the most common cause?
-Who gets croup?
-When is this most common?
Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases.
Epidemiology
peak incidence at 6 months - 3 years
more common in autumn
Give 4 clinical features of croup
Features
-stridor
-barking cough (worse at night)
-fever
-coryzal symptoms
Describe mild croup
-cough
-stridor
-chest wall recession
-Child behaviour
Occasional barking cough
No audible stridor at rest
No or mild suprasternal and/or intercostal recession
The child is happy and is prepared to eat, drink, and play
Describe moderate croup
-cough
-stridor
-chest wall recession
-Child behaviour
Frequent barking cough
Easily audible stridor at rest
Suprasternal and sternal wall retraction at rest
No or little distress or agitation
The child can be placated and is interested in its surroundings
Describe severe croup
-cough
-stridor
-chest wall recession
-Child behaviour
Frequent barking cough
Prominent inspiratory (and occasionally, expiratory) stridor at rest
Marked sternal wall retractions
Significant distress and agitation, or lethargy or restlessness (a sign of hypoxaemia)
Tachycardia occurs with more severe obstructive symptoms and hypoxaemia
Who should be admitted with croup?
CKS suggest admitting any child with moderate or severe croup. Other features which should prompt admission include:
< 6 months of age
known upper airway abnormalities (e.g. Laryngomalacia, Down’s syndrome)
uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
What is the management/emergency management of croup?
Management
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
prednisolone is an alternative if dexamethasone is not available
Emergency treatment
high-flow oxygen
nebulised adrenaline
Cystic fibrosis
-How is this inherited?
-What is the gene affected?
-How many births are affected and what is the carrier rate?
Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7. Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25
What 4 organisms colonise cystic fibrosis?
Organisms which may colonise CF patients
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia*
Aspergillus
What are 7 presenting features of cystic fibrosis? what percentage of patients are diagnosed after 18 years of age? Give 6 other features?
Presenting features
neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
recurrent chest infections (40%)
malabsorption (30%): steatorrhoea, failure to thrive
other features (10%): liver disease
Whilst many patients are picked up during newborn screening programmes or early childhood, it is worth remembering that around 5% of patients are diagnosed after the age of 18 years.
Other features of cystic fibrosis
short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility
Give 6 points of general management of cystic fibrosis?
Management of cystic fibrosis (CF) involves a multidisciplinary approach
Key points
-regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
-high calorie diet, including high fat intake*
-patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
-vitamin supplementation
-pancreatic enzyme supplements taken with meals
-lung transplantion
(chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation)
what is the use of Lumacaftor/Ivacaftor in cystic fibrosis?
Lumacaftor/Ivacaftor (Orkambi)
-is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
-lumacaftor increases the number of CFTR proteins that are transported to the cell surface
-ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
What is whooping cough caused by?
Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children. There are around 1,000 cases are reported each year in the UK. It is sometimes called the ‘cough of 100 days’.
Describe the immunisation of whooping cough? does this confer lifelong protection?
Immunisation
-infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced
-neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations
What are the three phases of whooping cough?
Features
catarrhal phase
-symptoms are similar to a viral upper respiratory tract infection
-lasts around 1-2 weeks
paroxysmal phase
-the cough increases in severity
coughing bouts are usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis
-inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)
infants may have spells of apnoea
-persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures
-lasts between 2-8 weeks
convalescent phase
the cough subsides over weeks to months
What is the diagnostic criteria for whooping cough?
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:
-Paroxysmal cough.
-Inspiratory whoop.
-Post-tussive vomiting.
-Undiagnosed apnoeic attacks in young infants.
What are 6 management points of whooping cough?
Diagnosis
-per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back
-PCR and serology are now increasingly used as their availability becomes more widespread
Management
-infants under 6 months with suspect pertussis should be admitted
-in the UK pertussis is a notifiable disease
-an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread
-household contacts should be offered antibiotic prophylaxis
-antibiotic therapy has not been shown to alter the course of the illness
-school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )
Give 4 complication of whooping cough
Complications
-subconjunctival haemorrhage
-pneumonia
-bronchiectasis
-seizures
When are pregnant women offered whooping cough vaccine?
Vaccination of pregnant women
In 2012 there was an outbreak of whooping cough (pertussis) which resulted in the death of 14 newborn children. As a temporary measure, a vaccination programme was introduced in 2012 for pregnant women. This has successfully reduced the number of cases of whooping cough (the vaccine is thought to be more than 90% effective in preventing newborns developing whooping cough). It was however decided in 2014 to extend the whooping cough vaccination programme for pregnant women. This decision was taken as there was a ‘great deal of uncertainty’ about the timing of future outbreaks.
Women who are between 16-32 weeks pregnant will be offered the vaccine.
What is laryngomalacia? when does this present?
Laryngomalacia is the most common congenital laryngeal abnormality characterised by flaccidity of the supraglottic structures. The larynx is soft and floppy as a result and collapses during breathing.
Epidemiology
Affects both sexes equally
Accounts for 60-70% of cases of congenital stridor
Presents within the first few weeks of life (typically at 4-6 weeks) with noisy respiration and inspiratory stridor
What are the three types of laryngomalacia?
Types
Type 1: tightening of the aryepiglottic folds
Type 2: redundant tissue in the supraglottic region
Type 3: associated with other disorders such as neuromuscular weakness or gastro-oesophageal reflux disease
Give 3 features of laryngomalacia?
Features
-Inspiratory stridor : high-pitched and crowing. This is usually intermittent, occurring in the supine position e.g. when the child lies on its back, when feeding or when agitated
-Symptoms increase in severity during the first 8 months but tend to resolve by 18-24 months
-Respiratory distress, failure to thrive and cyanosis are rare
What investigations are required for laryngomalacia?
Investigations
Oxygen saturation should be monitored and blood gases taken if there is desaturation
Laryngoscopy and bronchoscopy are only indicated if there are severe features, or if there is diagnostic difficulty
What is the management of laryngomalacia?
Management
-99% of cases usually resolve spontaneously by 18-24 months
-Symptomatic relief may be provided by hyperextending the neck during episodes of stridor
-Surgical intervention is only required with severe respiratory distress e.g. tracheostomy, laryngoplasty, excision of redundant mucosa, laser epiglottopexy or laser division of the aryepiglottic folds
Give 4 features of chicken pox
Fever initially
Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
Systemic upset is usually mild
Measles
-Give 3 clinical features
-Prodrome: irritable, conjunctivitis, fever
-Koplik spots: white spots (‘grain of salt’) on buccal mucosa
-Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
What is measles caused by? how is this spread? what is the incubation and infectivity period?
Overview
RNA paramyxovirus
one of the most infectious known viruses
spread by aerosol transmission
infective from prodrome until 4 days after rash starts
incubation period = 10-14 days
What are the investigations and management of measles?
Investigations
IgM antibodies can be detected within a few days of rash onset
Management
mainly supportive
admission may be considered in immunosuppressed or pregnant patients
notifiable disease → inform public health
What are 9 complications of measles?
Complications
-otitis media: the most common complication
-pneumonia: the most common cause of death
-encephalitis: typically occurs 1-2 weeks following the onset of the illness)
-subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
-febrile convulsions
-keratoconjunctivitis, corneal ulceration
-diarrhoea
-increased incidence of appendicitis
-myocarditis
Describe how contacts of measles are managed?
Management of contacts
if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection)
this should be given within 72 hours
Mumps
-Give 4 clinical features?
Fever, malaise, muscular pain
Parotitis (‘earache’, ‘pain on eating’): unilateral initially then becomes bilateral in 70%
Describe the rubella rash? where is lymphadenopathy found?
Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
Lymphadenopathy: suboccipital and postauricular
Erythema infectiosum
-What is this AKA
-What is this caused by?
-give 4 clinical features
Also known as fifth disease or ‘slapped-cheek syndrome’
Caused by parvovirus B19
Lethargy, fever, headache
‘Slapped-cheek’ rash spreading to proximal arms and extensor surfaces
Scarlet fever
-What is this caused by?
-Give 5 clinical features?
Reaction to erythrogenic toxins produced by Group A haemolytic streptococci
Fever, malaise, tonsillitis
‘Strawberry’ tongue
Rash - fine punctate erythema sparing the area around the mouth (circumoral pallor)
When is scarlet fever most commonly found? how is this spread?
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.
Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).
Describe the rash seen in scarlet fever
rash
-fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles
-children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures
-it is often described as having a rough ‘sandpaper’ texture
-desquamination occurs later in the course of the illness, particularly around the fingers and toes
Give 4 complications of scarlet fever
Scarlet fever is usually a mild illness but may be complicated by:
-otitis media: the most common complication
-rheumatic fever: typically occurs 20 days after infection
-acute glomerulonephritis: typically occurs 10 days after infection
-invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness
What is roseola infantum? what is this caused by?
Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.
Give 5 clinical features of roseola infantum? what 2 other possible consequences can occur?
Features
-high fever: lasting a few days, followed later by a
maculopapular rash
-Nagayama spots: papular enanthem on the uvula and soft palate
-febrile convulsions occur in around 10-15%
-diarrhoea and cough are also commonly seen
Other possible consequences of HHV6 infection
aseptic meningitis
hepatitis
Hand, foot and mouth disease
-What is this caused by?
-Give 4 clinical features
Caused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet
What is the management of hand, foot and mouth disease? Do they need to be excluded from school?
Management
symptomatic treatment only: general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school
the HPA recommends that children who are unwell should be kept off school until they feel better
they also advise that you contact them if you suspect that there may be a large outbreak.
How are thread worms diagnosed and what is the manageemnt
Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.
Management
CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists
What is the most common cause of D+V in children?
Diarrhoea and vomiting is very common in younger children. The most common cause of gastroenteritis in children in the UK is rotavirus. Much of the following is based around the 2009 NICE guidelines (please see the link for more details).
How long does diarrhoea and vomiting typically last for?
NICE suggest that typically:
diarrhoea usually lasts for 5-7 days and stops within 2 weeks
vomiting usually lasts for 1-2 days and stops within 3 days
what are 7 risk factors for dehydration during D+V in children?
The following children are at an increased risk of dehydration:
-children younger than 1 year, especially those younger than 6 months
-infants who were of low birth weight
-children who have passed six or more diarrhoeal stools in the past 24 hours
-children who have vomited three times or more in the past 24 hours
-children who have not been offered or have not been able to tolerate supplementary fluids before presentation
-infants who have stopped breastfeeding during the illness
-children with signs of malnutrition
Give 5 clinical features suggestive of hypernatraemic dehydration?
Features suggestive of hypernatraemic dehydration:
-jittery movements
-increased muscle tone
-hyperreflexia
-convulsions
-drowsiness or coma
In which 3 situations should you do a stool sample in D+V in children? In which 3 situations should you consider a stool sample?
NICE suggest doing a stool culture in the following situations:
-you suspect septicaemia or
-there is blood and/or mucus in the stool or
-the child is immunocompromised
You should consider doing a stool culture if:
-the child has recently been abroad or
-the diarrhoea has not improved by day 7 or
-you are uncertain about the diagnosis of gastroenteritis
what is the management of D+V in children
If clinical shock is suspected children should be admitted for intravenous rehydration.
For children with no evidence of dehydration
continue breastfeeding and other milk feeds
encourage fluid intake
discourage fruit juices and carbonated drinks
If dehydration is suspected:
give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts
continue breastfeeding
consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)
What is classed at tachypnoea in 6-12 months, >12 months
Tachypnoea: respiratory rate
>50 breaths/minute, age 6-12 months;
>40 breaths/minute, age >12 months
What is classed as tachycardia at <12mths, 12-24mths, 2-5years
> 160 beats/minute, age <12 months
150 beats/minute, age 12-24 months
140 beats/minute, age 2-5 years
In a child less than 1 year old, when is a diagnosis of constipation given?
2 or more:
Stool pattern:
-Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks
of age)
-Hard large stool
-‘Rabbit droppings’ (type 1)
Symptoms assoc. with defeacation:
-Distress on passing stool
-Bleeding associated with hard stool
-Straining
History:
-Prev. episode constipation
-Prev. or current anal fissure
In a child older than 1 year, when is a diagnosis of constipation given?
Stool pattern:
-Fewer than 3 complete stools per week (type 3 or 4)
-Overflow soiling (commonly very loose, very smelly, stool passed without sensation)
-‘Rabbit droppings’ (type 1)
-Large, infrequent stools that can block the toilet
Symptoms assoc. with defeacation:
-Poor appetite that improves with passage of large stool
-Waxing and waning of abdominal pain with passage of stool
-Evidence of retentive posturing: typical straight-legged, tiptoed, back arching
posture
Straining
Anal pain
History:
-Prev. episode
-Prev.or current anal fissure
-Painful bowel movements and bleeding associated with hard stools
Give 7 red flags suggesting underlying disorder in constipation
-Reported from birth
->48hrs to pass meconium
-Ribbon stools
-Faltering growth
-Prev. unknown or undiagnosed leg weakness/locomotor delay
-Abdo distension
-Any signs that raises child protection concerns
What has a child got to be assessed for prior to starting treatment for constipation?
Prior to starting treatment, the child needs to be assessed for faecal impaction. Factors which suggest faecal impaction include:
-symptoms of severe constipation
-overflow soiling
-faecal mass palpable in the abdomen (digital rectal examination should only be carried out by a specialist)
How to treat childhood constipation if faecal impaction is present? What have families got to be informed about?
-If faecal impaction is present
polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) using an escalating dose regimen as the first-line treatment
-add a stimulant laxative if Movicol Paediatric Plain does not lead to disimpaction after 2 weeks
-substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric Plain is not tolerated
-inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain
Describe the maintenance regime for childhood constipations
Maintenance therapy
very similar to the above regime, with obvious adjustments to the starting dose, i.e.
-first-line: Movicol Paediatric Plain
add a stimulant laxative if no response
-substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard
-continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce the dose gradually
How is constipation managed in infants not yet weaned?
Infants not yet weaned (usually < 6 months)
bottle-fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the infant’s legs
breast-fed infants: constipation is unusual and organic causes should be considered
How do you manage constipation in infants who have or are being weaned?
Infants who have or are being weaned
offer extra water, diluted fruit juice and fruits
if not effective consider adding lactulose
Infantile colic
-What is this?
-is there a recommended tx?
Infantile colic describes a relatively common and benign set of symptoms seen in young infants. It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening.
Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unknown.
NICE Clinical Knowledge Summaries do not recommend the use of simeticone (such as Infacol®) or lactase (such as Colief®) drops.
CMPA/CMPI
-How common is this?
-What type of immune reaction is seen?
Cow’s milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants.
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
What are 6 features of CMPI/CMPA
Features
-regurgitation and vomiting
-diarrhoea
-urticaria, atopic eczema
-‘colic’ symptoms: irritability, crying
-wheeze, chronic cough
-rarely angioedema and -anaphylaxis may occur
What is the diagnosis of CMPI/CMPA?
Diagnosis is often clinical (e.g. improvement with cow’s milk protein elimination). Investigations include:
skin prick/patch testing
total IgE and specific IgE (RAST) for cow’s milk protein
What is the management of CMPA if formula-fed?
If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician.
Management if formula-fed
extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
around 10% of infants are also intolerant to soya milk
What is the management of CMPI if breastfeeding?
Management if breastfed
continue breastfeeding
eliminate cow’s milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet
use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
What is the prognosis of CMPI?
CMPI usually resolves in most children
-in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
-in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
-a challenge is often performed in the hospital setting as anaphylaxis can occur.
Food allergy in children, What is seen in:
Skin
GI system
Rep system
If this is IgE mediated?
Skin
-pruritus
-erythema
-urticaria
-angioedema
Gastrointestinal system
-nausea
-colicky abdominal pain
-vomiting
-diarrhoea
Respiratory system
-upper respiratory tract symptoms - nasal itching,sneezing, rhinorrhoea or congestion (with or without conjunctivitis)
-lower respiratory tract symptoms - cough, chest tightness, wheezing or shortness of breath
-Symptoms of anaphylaxis
Food allergy in children, what is seen in skin and GI system if not IgE mediated?
Skin
pruritus
erythema
atopic eczema
Gastrointestinal system
gastro-oesophageal reflux disease
loose or frequent stools
blood and/or mucus in stools
abdominal pain
infantile colic
food refusal or aversion
constipation
perianal redness
pallor and tiredness
faltering growth plus one or more gastrointestinal symptoms above (with or without significant atopic eczema)
what should be offered to children who’s history is suggestive of an IgE mediated allergy?
If the history is suggestive of an IgE-mediated allergy
offer a skin prick test or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens
What should be done to manage a child with suspect non-IgE mediated food allergy?
If the history is suggestive of an non-IgE-mediated allergy
eliminate the suspected allergen for 2-6 weeks, then reintroduce. NICE advise to ‘consult a dietitian with appropriate competencies about nutritional adequacies, timings and follow-up’
GORD in infancy
-What are 2 risk factors?
Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes.
Risk factors
preterm delivery
neurological disorders
Give 5 clinical features of GORD in infancy? what is the diagnosis?
Features
-typically develops before 8 weeks
-vomiting/regurgitation
-milky vomits after feeds
-may occur after being laid flat
-excessive crying, especially while feeding
Diagnosis is usually made clinically
Describe the management of GORD in infancy
Management (partly based on the 2015 NICE guidelines)
-advise regarding position during feeds - 30 degree head-up
-infants should sleep on their backs as per standard guidance to reduce the risk of cot death
-ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds
-a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum)
-a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents
NICE do not recommend a proton pump inhibitor (PPI) to treat overt regurgitation in infants and children occurring as an isolated symptom. A trial of one of these agents should be considered if 1 or more of the following apply:
-unexplained feeding difficulties (for example, refusing feeds, gagging or choking)
-distressed behaviour
-faltering growth
Give 5 complications of GORD in infancy?
Complications
distress
failure to thrive
aspiration
frequent otitis media
in older children dental erosion may occur
If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered
Pyloric stenosis
-What is this?
-Who does this affect? 4
Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus.
Epidemiology
-incidence of 4 per 1,000 live births
-4 times more common in males
10-15% of infants have a positive family history
-first-borns are more commonly affected
What are 4 clinical features of pyloric stenosis?
-How is the diagnosis made?
-What is the management?
Features
-‘projectile’ vomiting, typically 30 minutes after a feed
-constipation and dehydration may also be present
-a palpable mass may be present in the upper abdomen
-hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
Diagnosis is most commonly made by ultrasound.
Management is with Ramstedt pyloromyotomy.
What is hirschsprungs disease? What is the pathophysiology?
Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses. Although rare (occurring in 1 in 5,000 births) it is an important differential diagnosis in childhood constipation.
Pathophysiology
parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction
What are 2 assoc. with hisrchsprungs disease? What are possible presentations in neonates vs in older children?
Associations
3 times more common in males
Down’s syndrome
Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension
What are the investigations and management of hirschsprungs disease?
Investigations
abdominal x-ray
rectal biopsy: gold standard for diagnosis
Management
initially: rectal washouts/bowel irrigation
definitive management: surgery to affected segment of the colon
What is intussusception? who does this usually affect?
Intussusception describes the invagination of one portion of the bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls
What are 6 features of intussusception?
Features
-intermittent, severe, crampy, progressive abdominal pain
-inconsolable crying
-during paroxysm the infant will characteristically draw their knees up and turn pale
-vomiting
-bloodstained stool - ‘red-currant jelly’ - is a late sign
-sausage-shaped mass in the right upper quadrant
What is the investigation and management of intussusception?
Investigation
ultrasound is now the investigation of choice and may show a target-like mass
Management
the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed
What is meckels diverticulum? what is the rule of 2’s?
Meckel’s diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa.
.
Rule of 2s
occurs in 2% of the population
is 2 feet from the ileocaecal valve
is 2 inches long
What is seen on presentation of meckels diverticulum? 3
Presentation (usually asymptomatic)
-abdominal pain mimicking appendicitis
-rectal bleeding
-Meckel’s diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years
-intestinal obstruction
secondary to an omphalomesenteric band (most commonly), volvulus and intussusception
What is the investigation and management of meckels diverticulum?
nvestigation
if the child is haemodynamically stable with less severe or intermittent bleeding then a ‘Meckel’s scan’ should be considered
uses 99m technetium pertechnetate, which has an affinity for gastric mucosa
mesenteric arteriography may also be used in more severe cases e.g. transfusion is required
Management
removal if narrow neck or symptomatic
options are between wedge excision or formal small bowel resection and anastomosis
How should temperature be measured in children?
Measuring temperature should be done with an electronic thermometer in the axilla if the child is < 4 weeks or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer.
Give 3 clinical features of febrile convulsions
Clinical features
-usually occur early in a viral infection as the temperature rises rapidly
-seizures are usually brief, lasting less than 5 minutes
-are most commonly tonic-clonic
What are the three types of febrile convulsion?
Simple
Complex
Febrile status epilepticus
What constitutes a simple febrile convulsion?
<15mins
Generalised seizure
Typically no recurrence with 24hrs
Should be complete recovery within 1hr
What constitutes a complex febrile convulsion?
15-30mins
focal seizure
May have repeat seizures within 24hrs
What is febrile status epilepticus?
> 30mins
What is the management of febrile convulsions?
Management following a seizure
children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
Ongoing management
-parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes
-regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring
-if recurrent febrile convulsions occur then benzodiazepine rescue medication may be considered
-this should only be started on the advice of a specialist (e.g. a paediatrician)
-rectal diazepam or buccal midazolam may be used
What is the risk for further febrile convulsion after one? What increases this risk?
the overall risk of further febrile convulsion = 1 in 3. This varies widely depending on risk factors for further seizure, including:
-age of onset < 18 months
-fever < 39ºC
-shorter duration of fever before the seizure
-a family history of febrile convulsions
what is the risk of developing epilepsy following febrile convulsions?
ink to epilepsy
-risk factors for developing epilepsy include a family history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder
-children with no risk factors have a 2.5% risk of developing epilepsy
-if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)
What is benign rolandic epilepsy?
-Give 3 clinical features?
-What is seen on EEG
-What is the prognosis?
Benign rolandic epilepsy is a form of childhood epilepsy that typically occurs between the age of 4 and 12 years.
Features
seizures characteristically occur at night
seizures are typically partial (e.g. paraesthesia affecting the face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)
the child is otherwise normal
EEG characteristically shows centrotemporal spikes
The prognosis is excellent, with seizures stopping by adolescence
Infantile spasms
-When does this usually present?
-What are these often associated with?
Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis
Give 3 clinical features of infantile spasms
Features
characteristic ‘salaam’ attacks: flexion of the head, trunk and arms followed by extension of the arms
this lasts only 1-2 seconds but may be repeated up to 50 times
progressive mental handicap
What is seen on EEG with infantile spasms? what is seen on CTB? what is the management?
Investigation
-the EEG shows hypsarrhythmia in two-thirds of infants
-CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
Management
-poor prognosis
-vigabatrin is now considered first-line therapy
-ACTH is also used
Describe the ways that meningococcal disease in children can present?
What are the features of meningococcal sepsis?
What is the management of suspected meningococcal septicaemia?
Presentation of meningococcal disease:
15% - meningitis
25% - septicaemia
60% - a combination of meningitis and septicaemia
NICE divide the features of meningococcal septicaemia into:
common non-specific symptoms/signs e.g. fever, vomiting, lethargy
less common non-specific symptoms/signs e.g. Chills, shivering
more specific symptoms/signs e.g. Non-blanching rash, altered mental state, capillary refill time more than 2 seconds, unusual skin colour, shock, hypotension, leg pain, cold hands/feet
Management if suspected meningococcal septicaemia
give intramuscular or intravenous benzylpenicillin unless there is a history of anaphylaxis (do not give if this will delay hospital transfer)
NICE recommend phoning 999
Give 5 contra-indications to LP when investigating for meningitis
Contraindication to lumbar puncture (any signs of raised ICP)
-focal neurological signs
-papilloedema
-significant bulging of the fontanelle
-disseminated intravascular coagulation
-signs of cerebral herniation
For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
What are the 5 aspects of management of meningitis?
- Antibiotics
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone) - Steroids
NICE advise against giving corticosteroids in children younger than 3 months
dexamethsone should be considered if the lumbar puncture reveals any of the following:
frankly purulent CSF
CSF white blood cell count greater than 1000/microlitre
raised CSF white blood cell count with protein concentration greater than 1 g/litre
bacteria on Gram stain - Fluids
treat any shock, e.g. with colloid - Cerebral monitoring
mechanical ventilation if respiratory impairment - Public health notification and antibiotic prophylaxis of contacts
ciprofloxacin is now preferred over rifampicin
When is the menB vaccine given?
Three doses are now given at:
2 months
4 months
12-13 months
Neonatal jaundice
-What are 4 causes of jaundice within the first 24hrs?
Jaundice in the first 24 hours is always pathological.
Causes of jaundice in the first 24 hrs
rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
What can cause neonatal jaundice between 2-14days?
Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function.
It is more commonly seen in breastfed babies
What tests are done if there are still signs of jaundice after 14 days of life?
If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including:
-conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
-direct antiglobulin test (Coombs’ test)
-TFTs
-FBC and blood film
-urine for MC&S and reducing sugars
-U&Es and LFTs
What are 7 causes of prolonged jaundice?
Causes of prolonged jaundice
-biliary atresia
-hypothyroidism
-galactosaemia
-urinary tract infection
-breast milk jaundice
jaundice is more common in breastfed babies
mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin
-prematurity: due to immature liver function, increased risk of kernicterus
-congenital infections e.g. CMV, toxoplasmosis
What are the 3 major congenital infections?
Rubella
Toxoplamosis
Cytomegalovirus
Rubella
-Characteristic features 4
-Further features 6
Characteristic:
-Sensorineural deafness
-Congenital cataracts
-Congenital heart disease (e.g. patent ductus arteriosus)
-Glaucoma
Other:
-Growth retardation
-Hepatosplenomegaly
-Purpuric skin lesions
-‘Salt and pepper’ chorioretinitis
-Microphthalmia
-Cerebral palsy
Toxoplasmosis
-Characteristic features 3
-Other features 3
Characteristic:
-Cerebral calcification
-Chorioretinitis
-Hydrocephalus
Other:
-Anaemia
-Hepatosplenomegaly
-Cerebral palsy
Cytomegalovirus
-Characteristic features 4
-Other features 8
Characteristic:
-Low birth weight
-Purpuric skin lesions
-Sensorineural deafness
-Microcephaly
Other:
-Visual impairment
-Learning disability
-Encephalitis/seizures
-Pneumonitis
-Hepatosplenomegaly
-Anaemia
-Jaundice
-Cerebral palsy
Microcephaly:
-What can this be defined as?
-What are 7 causes
Microcephaly may be defined as an occipital-frontal circumference < 2nd centile
Causes include
-normal variation e.g. small child with small head
-familial e.g. parents with small head
-congenital infection
-perinatal brain injury e.g. hypoxic -ischaemic encephalopathy
-fetal alcohol syndrome
-syndromes: Patau
craniosynostosis
Give 7 causes of macrocephaly
Causes of macrocephaly in children include:
-normal variant
-chronic hydrocephalus
-chronic subdural effusion
-neurofibromatosis
-gigantism (e.g. Soto’s syndrome)
-metabolic storage diseases
-bone problems e.g. thalassaemia
What is the most common cause of hypothyroidism in children? what are 2 other causes?
The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis.
Other causes include
post total-body irradiation (e.g. in a child previous treated for acute lymphoblastic leukaemia)
iodine deficiency (the most common cause in the developing world)
What is the general rule for working out autosomal dominant vs autosomal recessive conditions?
Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:
-some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant
-some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive
Patau syndrome - give the features
Trisomy 13
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Edwards syndrome - give th efeatures
Trisomy 18
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Fragile X - give the features
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Mitral valve prolapse
How can diagnosis of fragile X be done?
Diagnosis
can be made antenatally by chorionic villus sampling or amniocentesis
analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
Noonan syndrome
-Give the features
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Pierre-robin syndrome - give the features
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Prader-willi syndrome - give the features
Hypotonia
Hypogonadism
Obesity
William’s syndrome - give the fetaures
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Elfin features
Cri-du-chat 0 give the features
(chromosome 5p deletion syndrome)
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Achondroplasia
-How is this inherited?
-What is this caused by?
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:
-short limbs (rhizomelia) with -shortened fingers (brachydactyly)
-large head with frontal bossing and narrow foramen magnum
-midface hypoplasia with a flattened nasal bridge
-‘trident’ hands
-lumbar lordosis
In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.
What is the treatment of achondroplasia?
There is no specific therapy. However, some individuals benefit from limb lengthening procedures. These usually involve application of Ilizarov frames and targeted bone fractures. A clearly defined need and end point is the cornerstone of achieving success with such procedures.
What is LH and testosterone in:
-Klinefelters syndrome
-Kallman’s syndrome
-Andogen insensitivity syndrome
-Testerone-secreting tumour
Disorder LH Testosterone
Primary hypogonadism (Klinefelter’s syndrome) High Low
Hypogonadotrophic hypogonadism (Kallman’s syndrome) Low Low
Androgen insensitivity syndrome High Normal/high
Testosterone-secreting tumour Low High
Klinefelters syndrome
-What is the karyotype?
-Give 6 features
-How is diagnosis done?
Klinefelter’s syndrome is associated with karyotype 47, XXY
Features
-often taller than average
-lack of secondary sexual characteristics
-small, firm testes
-infertile
-gynaecomastia - increased incidence of breast cancer
-elevated gonadotrophin levels
Diagnosis is by chromosomal analysis
Kallman’s syndrome
-how is this usually inherited?
-give 6 clinical features
Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
The clue given in many questions is lack of smell (anosmia) in a boy with delayed puberty
Features
-‘delayed puberty’
-hypogonadism, cryptorchidism
-anosmia
-sex hormone levels are low
-LH, FSH levels are inappropriately low/normal
-patients are typically of normal or above average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
Androgen insensitivity syndrome
-What is the cause of this?
-Give 3 features
-How is this diagnosed?
-How is this managed
Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome
Features
-‘primary amenorrhoea’
-undescended testes causing groin swellings
-breast development may occur as a result of conversion of testosterone to oestradiol
Diagnosis
-buccal smear or chromosomal analysis to reveal 46XY genotype
Management
-counselling - raise child as female
-bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
-oestrogen therapy
What is McCune-Albright syndrome? Give 4 features?
McCune-Albright syndrome
McCune-Albright syndrome is not inherited, it is due to a random, somatic mutation in the GNAS gene.
Features
precocious puberty
cafe-au-lait spots
polyostotic fibrous dysplasia
short stature
Pubery in males:
-What is the first sign
-What indicates onset of puberty
-When is the maximum height spurt?
Males
first sign is testicular growth at around 12 years of age (range = 10-15 years)
testicular volume > 4 ml indicates onset of puberty
maximum height spurt at 14
Puberty in females
-What is the first sign of puberty?
-When does height spurt reach it’s max?
-When is menarche usually?
-What happens to height following menarche?
emales
first sign is breast development at around 11.5 years of age (range = 9-13 years)
height spurt reaches its maximum early in puberty (at 12) , before menarche
menarche at 13 (11-15)
there is an increase of only about 4% of height following menarche
Normal changes in puberty
-What can happen to boys chest
-What can happen to girl chests
-What can happen to the thyroid
Normal changes in puberty
gynaecomastia may develop in boys
asymmetrical breast growth may occur in girls
diffuse enlargement of the thyroid gland may be seen
What is precocious puberty? what is thelarche? what is adrenarche?
Definition
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females
Some other terms
thelarche (the first stage of breast development)
adrenarche (the first stage of pubic hair development)
How can precocious puberty be classified?
- Gonadotrophin dependent (‘central’, ‘true’)
due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised - Gonadotrophin independent (‘pseudo’, ‘false’)
due to excess sex hormones
FSH & LH low
what are three causes of precocious puberty in males?
Males - uncommon and usually has an organic cause
Testes
bilateral enlargement = gonadotrophin release from intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia)
What are causes of precocious puberty in females?
Females - usually idiopathic or familial and follows normal sequence of puberty
Organic causes
are rare, associated with rapid onset, neurological symptoms and signs and dissonance
e.g. McCune Albright syndrome
Vulvovaginitis in girls
-What are the features
In general vaginal examinations and vaginal swabs should not be performed - referral to a paediatric gynaecologist is appropriate for persistent problems
Most newborn girls have some mucoid white vaginal discharge. This usually disappears by 3 months of age
Vulvovaginitis
-commonest gynaecological disorder in girls
-risk factors include poor hygiene, tight clothing, lack of labial fat pads protecting vaginal orifice and lack of protective acid secretion -found in the reproductive years
bacterial (such as Gardnerella and Bacteroides) or fungal organisms may be responsible
-sexual abuse may occasionally present as vulvovaginitis
-if bloody discharge consider foreign body
What is the management of vulvovaganitis in girls?
Management
advise about hygiene
soothing creams may be useful
topical antibiotics/antifungals
oestrogen cream in resistant cases
What is alpha thalassaemia due to? What does clinical severity depend on?
Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin
Overview
2 separate alpha-globulin genes are located on each chromosome 16
Clinical severity depends on the number of alpha globulin alleles affected:
If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal
If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart’s hydrops)
Labial adhesions in girls
-When is this most commonly seen?
-What are 2 clinical features?
Labial adhesions describe the fusion of the labia minora in the midline. It is usually seen in girls between the ages of 3 months and 3 years and can generally be treated conservatively. Spontaneous resolution tends to occur around puberty. It should be noted that the condition is different from an imperforate hymen.
The majority of cases are symptomatic. Features may include:
problems with micturition including pooling in the vagina
on examination thin semitranslucent adhesions covering the vaginal opening between the labia minora are seen, which sometimes cover the vaginal opening completely
What is the management of labial adhesions in girls?
Management
conservative management is appropriate in the majority of cases
if there are associated problems such as recurrent urinary tract infections oestrogen cream may be tried
if this fails surgical intervention may be warranted
What are 4 causes of nappy rash?
Type Notes
Irritant dermatitis The most common cause, due to irritant effect of urinary ammonia and faeces
Creases are characteristically spared
Candida dermatitis Typically an erythematous rash which involve the flexures and has characteristic satellite lesions
Seborrhoeic dermatitis Erythematous rash with flakes. May be coexistent scalp rash
Psoriasis A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin
Atopic eczema Other areas of the skin will also be affected
Give 5 management points for nappy rash
General management points
disposable nappies are preferable to towel nappies
expose napkin area to air when possible
apply barrier cream (e.g. Zinc and castor oil)
mild steroid cream (e.g. 1% hydrocortisone) in severe cases
management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled
How is phimosis managed in infants?
The British Association of Paediatric Urologists states that if the issue is a non-retractile foreskin and/or ballooning during micturition in a child under two, an expectant approach should be taken in case this is physiological phimosis which will resolve in time. Forcible retraction can result in scar formation so should be avoided. Personal hygiene is important. If the child is over 2 years of age and has recurrent balanoposthitis or urinary tract infection then treatment can be considered.
How common is undescended testes? what are 4 complications?
Undescended testis occurs in around 2-3% of term male infants, but is much more common if the baby is preterm. Around 25% of cases are bilateral.
Complications of undescended testis
infertility
torsion
testicular cancer
psychological
What is the management of undescended testes?
Management
Unilateral undescended testis
NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age
Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age
Bilateral undescended testes
Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation
What phenomenon occurs in trinucleotide repeat disorders? give 7 examples
Examples - note dominance of neurological disorders
Fragile X (CGG)
Huntington’s (CAG)
myotonic dystrophy (CTG)
Friedreich’s ataxia* (GAA)
spinocerebellar ataxia
spinobulbar muscular atrophy
dentatorubral pallidoluysian atrophy
Turner’s syndrome
-What is this caused by?
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.
What are some features of turners syndrome
13
Features
-short stature
-shield chest, widely spaced nipples
-webbed neck
-bicuspid aortic valve (15%), -coarctation of the aorta (5-10%)
-an increased risk of aortic dilatation and dissection are the most serious long-term health problems for women with Turner’s syndrome
-regular monitoring in adult life for these complications is an important component of care
-primary amenorrhoea
-cystic hygroma (often diagnosed prenatally)
-high-arched palate
-short fourth metacarpal
-multiple pigmented naevi
-lymphoedema in neonates (especially feet)
-gonadotrophin levels will be elevated
-hypothyroidism is much more common in Turner’s
-horseshoe kidney: the most common renal abnormality in Turner’s syndrome
There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
Describe how the chance of down’s syndome increases with increasing maternal age
Down’s syndrome Trisomy 21
Chance of Down’s syndrome with increasing maternal age
Age (years) Risk
20 1 in 1,500
30 1 in 800
35 1 in 270
40 1 in 100
45 1 in 50 or greater
One way of remembering this is by starting at 1/1,000 at 30 years and then dividing the denominator by 3 (i.e. 3 times more common) for every extra 5 years of age
What is the most common mode of cytogenetics in down’s syndrome?
Mode % of cases Risk of recurrence
Nondisjunction 94% 1 in 100 if under mother < 35 years
Robertsonian translocation
(usually onto 14) 5% 10-15% if mother is translocation carrier
2.5% if father is translocation carrier
Mosaicism* 1%
The chance of a further child with Down’s syndrome is approximately 1 in 100 if the mother is less than 35 years old. If the trisomy 21 is a result of a translocation the risk is much higher
Downs syndrome give 7 features
Clinical features
face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease
Give 6 cardiac complications of down’s syndrome
Cardiac complications
-multiple cardiac problems may be present
-endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
-ventricular septal defect (c. 30%)
-secundum atrial septal defect (c. 10%)
-tetralogy of Fallot (c. 5%)
-isolated patent ductus arteriosus (c. 5%)
Give 8 later features of down’s syndrome
Later complications
subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer’s disease
atlantoaxial instability
Give 5 visual impairments seen in downs syndrome?
Vision
refractive errors are more common
strabismus: seen in around 20-40%
cataracts: congenital and acquired are both more common
recurrent blepharitis
glaucoma
How can down’s syndrome affect hearing?
otitis media / glue ear
What is homocystinuria?
Give 6 features
Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations.
Features
-often patients have fine, fair hair
musculoskeletal
Marfanoid body habitus: arachnodactyly etc
osteoporosis
kyphosis
neurological: may have learning difficulties, seizures
ocular
downwards (inferonasal) dislocation of lens
severe myopia
increased risk of arterial and venous thromboembolism
also malar flush, livedo reticularis
what are the investigations and management for homocystinuria?
Investigations
increased homocysteine levels in serum and urine
cyanide-nitroprusside test: also positive in cystinuria
Treatment is vitamin B6 (pyridoxine) supplements.
Give 5 acyanotic types of congenital heart disease
Acyanotic - most common causes
-ventricular septal defects (VSD) - most common, accounts for 30%
-atrial septal defect (ASD)
-patent ductus arteriosus (PDA)
-coarctation of the aorta
-aortic valve stenosis
VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later.
Give 5 clinical features of PDA
Features
-left subclavicular thrill
-continuous ‘machinery’ murmur
-large volume, bounding, collapsing pulse
-wide pulse pressure
-heaving apex beat
What is the management of patent ductus arteriosus?
Management
indomethacin or ibuprofen
given to the neonate
inhibits prostaglandin synthesis
closes the connection in the majority of cases
if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
Give three causes of cyanotic congenital heart disease
Cyanotic - most common causes
-tetralogy of Fallot
-transposition of the great arteries (TGA)
-tricuspid atresia
Fallot’s is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot’s generally presenting at around 1-2 months
The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.
Give two innocent murmurs and described how these are heard?
Venous hums Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles
Still’s murmur Low-pitched sound heard at the lower left sternal edge
Give 8 characteristics of innocent murmurs
Characteristics of an innocent ejection murmur include:
-soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
-may vary with posture
-localised with no radiation
-no diastolic component
-no thrill
-no added sounds (e.g. clicks)
-asymptomatic child
-no other abnormality
Give 7 risk factors for DDH?
Developmental dysplasia of the hip (DDH) is gradually replacing the old term ‘congenital dislocation of the hip’ (CDH). It affects around 1-3% of newborns.
Risk factors
-female sex: 6 times greater risk
-breech presentation
-positive family history
-firstborn children
-oligohydramnios
-birth weight > 5 kg
-congenital calcaneovalgus foot deformity
How are infants screened for DDH?
DDH is slightly more common in the left hip. Around 20% of cases are bilateral.
Screening for DDH
the following infants require a routine ultrasound examination
-first-degree family history of hip problems in early life
-breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
-multiple pregnancy
all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests
What is done to examine for DDH?
Clinical examination
-Barlow test: attempts to dislocate an articulated femoral head
-Ortolani test: attempts to relocate a dislocated femoral head
other important factors include:
-symmetry of leg length
-level of knees when hips and knees are bilaterally flexed
-restricted abduction of the hip in flexion
What imaging is done for DDH? What is the management?
Imaging
ultrasound is generally used to confirm the diagnosis if clinically suspected
however, if the infant is > 4.5 months then x-ray is the first line investigation
Management
most unstable hips will spontaneously stabilise by 3-6 weeks of age
Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
older children may require surgery
What is calcaneal apophysitis?
Calcaneal apophysitis (Sever disease) is an overuse injury causing heel pain in sporty children.
What is perthes disease? Who does this affect?
Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.
Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral
give 3 clinical features of perthes disease? What is seen on XR?
Features
-hip pain: develops progressively over a few weeks
-limp
-stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
What is the diagnosis and management of perthes disease?
Diagnosis
plain x-ray
technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
Management
To keep the femoral head within the acetabulum: cast, braces
If less than 6 years: observation
Older: surgical management with moderate results
Operate on severe deformities
What is the prognosis and complications of perthes disease?
Prognosis
Most cases will resolve with conservative management. Early diagnosis improves outcomes.
Complications
osteoarthritis
premature fusion of the growth plates
Describe the caterall staging of perthes disease
Stage Features
Stage 1 Clinical and histological features only
Stage 2 Sclerosis with or without cystic changes and preservation of the articular surface
Stage 3 Loss of structural integrity of the femoral head
Stage 4 Loss of acetabular integrity
SUFE
-Who is this most commonly seen in?
-what is this?
Slipped capital femoral epiphysis is rare hip condition seen in children, classically seen in obese boys. It is also is known as slipped upper femoral epiphysis.
Basics
typically age group is 10-15 years
More common in obese children and boys
Displacement of the femoral head epiphysis postero-inferiorly
May present acutely following trauma or more commonly with chronic, persistent symptoms
What are the features and investigations of SUFE?
Features
hip, groin, medial thigh or knee pain
loss of internal rotation of the leg in flexion
bilateral slip in 20% of cases
Investigation
AP and lateral (typically frog-leg) views are diagnostic
What is the management and 4 complications of SUFE?
Management
internal fixation: typically a single cannulated screw placed in the centre of the epiphysis
Complications
osteoarthritis
avascular necrosis of the femoral head
chondrolysis
leg length discrepancy
What is freibergs disease? What is the management?
Freiberg’s disease is a condition where the blood supply to the metatarsal head gets interrupted causing infarction and flattening of the metatarsal head. It usually affects the 2nd metatarsal and is most commonly seen in adolescents as their bones may grow faster than blood vessel proliferation can keep up with. Tall, athletic females are most at risk.
The symptoms of Freiberg’s disease, pain, swelling and stiffness, usually respond to conservative measures such as activity limitation, analgesia and orthotic devices including walking casts or boots. Operative management is rarely necessary although it is important to tell patients that improvement is gradual and can take up to a year.
Growing pains
-Are these more common in boys or girls?
-Give 7 features
A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to ‘growing pains’. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’
Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.
Features of growing pains
-never present at the start of the day after the child has woken
-no limp
-no limitation of physical activity
-systemically well
-normal physical examination
-motor milestones normal
-symptoms are often intermittent and worse after a day of vigorous activity
Chondromalacia patallae
-What is this?
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
Osgood-schlatter disease
-What is this?
Tibial apophysitis
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
Osteochondritis dissecans - what is this?
Pain after exercise
Intermittent swelling and locking
Patellar subluxation
-What is seen?
-What can happen on examinaition?
Medial knee pain due to lateral subluxation of the patella
Knee may give way
PAtella tendonitis
-Who is this most common in?
-How does this present
-What is found on examination?
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
Flat feet - pes planus
-When does this present
-Give clinical signs
-What is the management
All ages
Absent medial arch on standing Typically resolves between the ages of 4-8 years
Orthotics are not recommended
Parental reassurance appropriate
in-toeing
-When does this present
-Give clinical signs
-What is the management
1st year
Possible causes:
metatarsus adductus: abnormal heel bisector line. 90% of cases resolve spontaneously, severe/persistent cases may require serial casting
internal tibial torsion: difference
the thigh and foot ankle: resolves in the vast majority
femoral anteversion: ‘W’ sign resolves in around 80% by adolescence, surgical intervention in the remaining not usually advised
out-toeing
-When does this present
-Give clinical signs
-What is the management
All ages
Common in early infancy and usually resolves by the age of 2 years
Usually due to external tibial torsion
Intervention may be appropriate if doesn’t resolve as increases risk of patellofemoral pain
Bow legs - genu-varum
-When does this present
-Give clinical signs
-What is the management
1st-2nd year
Increased intercondylar distance Typically resolves by the age of 4-5 years
Knock-knees - genu-valgum
-When does this present
-Give clinical signs
-What is the management
3rd-4th year
Increased intermalleolar distance Typically resolves spontaneously
Rickets
-What is this?
-Give 4 predisposing factors
Rickets is a term that describes inadequately mineralised bone in developing and growing bones. This results in soft and easily deformed bones. It is usually due to vitamin D deficiency. In adults, the equivalent condition is termed osteomalacia
Predisposing factors
dietary deficiency of calcium, for example in developing countries
prolonged breastfeeding
unsupplemented cow’s milk formula
lack of sunlight
Give 6 features of rickets
Features
-aching bones and joints
-lower limb abnormalities:
in toddlers genu varum (bow legs)
in older children - genu valgum (knock knees)
-‘rickety rosary’ - swelling at the costochondral junction
-kyphoscoliosis
-craniotabes - soft skull bones in early life
-Harrison’s sulcus
What are the investigations and management for rickets
Investigations
low vitamin D levels
reduced serum calcium - symptoms may results from hypocalcaemia
raised alkaline phosphatase
Management
oral vitamin D
UTIs in children
-Who is this most commonly found in?
-What is the presentations?
Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls. At least 8% of girls and 2% of boys will have a UTI in childhood
Presentation in childhood depends on age:
infants: poor feeding, vomiting, irritability
younger children: abdominal pain, fever, dysuria
older children: dysuria, frequency, haematuria
features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness
In which 3 scenarios would you check urine sample in a child
NICE guidelines for checking urine sample in a child
-if there are any symptoms or signs suggestive or a UTI
-with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
-with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
How can a urine sample be obtained in a child?
Urine collection method
-clean catch is preferable
-if not possible then urine collection pads should be used
-cotton wool balls, gauze and sanitary towels are not suitable
-invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible
What is the management of UTI in children?
Management
infants less than 3 months old should be referred immediately to a paediatrician
children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
When is an ultrasound indicated for UTI in childhood
NICE guidelines for imaging the urinary tract
infants < 6 months who present with a first UTI which responds to treatment should have an ultrasound within 6 weeks
children > 6 months who present with a first UTI which responds to treatment do not require imaging unless there are features suggestive of an atypical infection or recurrent infection
What are 3 further investigation for UTI in children outwith ultrasound?
Possible further investigations
-urine for microscopy and culture: urine should be sent for culture as only 50% of children with a UTI have pyuria. Microscopy or dipstick of the urine is therefore inadequate for diagnosis
-static radioisotope scan (e.g. DMSA): identifies renal scars. Should be done 4-6 months after initial infection
-micturating cystourethrography (MCUG): identifies vesicoureteric reflux. Only recommended for infants younger than 6 months who present with atypical or recurrent infections
Which children require DMSA or MCUG in the context of UTI
In a child under 6 months with a UTI which responds well to antibiotics within 48 hours, NICE recommend an ultrasound scan within 6 weeks.
For an atypical UTI or recurrent UTI in an infant <6 months, ultrasound during acute infection, DMSA 4-6 months following the acute infection and MCUG is advised.
What is atypical UTI in children?
Atypical UTI includes:
seriously ill
poor urine flow
abdominal or bladder mass
elevated creatinine
failure to respond to antibiotics within 48 hours
non-E. coli organisms.
What is recurrent UTI in children?
Recurrent UTI is defined by NICE as:
two or more episodes of UTI with acute pyelonephritis/upper urinary tract infection
one episode of UTI with acute pyelonephritis/upper urinary tract infection plus one or more episode of UTI with cystitis/lower urinary tract infection
three or more episodes of UTI with cystitis/lower urinary tract infection.
What is vesicoureteric reflux? what is the pathophysiology?
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is a relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI
Pathophysiology of VUR
ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
therefore shortened intramural course of the ureter
vesicoureteric junction cannot, therefore, function adequately
What are 3 possible presentations of vesicoureteric reflux
Possible presentations
antenatal period: hydronephrosis on ultrasound
recurrent childhood urinary tract infections
reflux nephropathy
term used to describe chronic pyelonephritis secondary to VUR
commonest cause of chronic pyelonephritis
renal scar may produce increased quantities of renin causing hypertension
What are 2 investigations for vesicoureteric reflux
Investigation
-VUR is normally diagnosed following a micturating cystourethrogram
-a DMSA scan may also be performed to look for renal scarring
Describe the grading system of VUR
Grade
I Reflux into the ureter only, no dilatation
II Reflux into the renal pelvis on micturition, no dilatation
III Mild/moderate dilatation of the ureter, renal pelvis and calyces
IV Dilation of the renal pelvis and calyces with moderate ureteral tortuosity
V Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity
How many diagnostic features have to present for ADHD diagnosis in children?
For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features (Table below).
What is the management of ADHD in children?
ICE stipulates a holistic approach to treating ADHD that isn’t entirely reliant on therapeutics. Following presentation, a ten-week ‘watch and wait’ period should follow to observe whether symptoms change or resolve. If they persist then referral to secondary care is required. This is normally to a paediatrician with a special interest in behavioural disorders, or to the local Child and Adolescent Mental Health Service (CAMHS). Here, the needs and wants of the patient, as well as how their condition affects their lives should be taken into account, to offer a tailored plan of action.
Drug therapy should be seen as a last resort and is only available to those aged 5 years or more. Patients with mild/moderate symptoms can usually benefit from their parents attending education and training programmes. For those who fail to respond, or whose symptoms are severe, pharmacotherapy can be considered:
Methylphenidate is first line in children and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months
If there is inadequate response, switch to lisdexamfetamine;
Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can’t tolerate its side effects.
Headaches in children - is this more common in boys or girls?
Epidemiology
up to 50 per cent of 7-year-olds and up to 80 per cent of 15-year-old have experienced at least one headache
equally as common in boys/girls until puberty then strong (3:1) female preponderance
Migraine without aura in childen
-What is the criteria?
Migraine without aura is the most common cause of primary headache in children. The International Headache Society (IHS) have produced criteria for paediatric migraine without aura:
A >= 5 attacks fulfilling features B to D
B Headache attack lasting 4-72 hours
C Headache has at least two of the following four features:
bilateral or unilateral (frontal/temporal) location
pulsating quality
moderate to severe intensity
aggravated by routine physical activity
D At least one of the following accompanies headache:
nausea and/or vomiting
photophobia and phonophobia (may be inferred from behaviour)
What is the acute management and prophylaxis of migraine without aura for children?
Acute management
ibuprofen is thought to be more effective than paracetamol for paediatric migraine
NICE CKS recommends that triptans may be used in children >= 12 years but follow-up is required
sumatriptan nasal spay (licensed) is the only triptan that has proven efficacy but it is poorly tolerated by young people who don’t like the taste in the back of the throat
it should be noted that oral triptans are not currently licensed in people < 18 years
side-effects of triptans include tingling, heat and heaviness/pressure sensations
Prophylaxis
the evidence base is limited and no clear consensus guidelines exist
the GOSH website states: ‘in practice, pizotifen and propranolol should be used as first line preventatives in children. Second line preventatives are valproate, topiramate and amitryptiline’
Tension-type headache in children
-what is the diagnostic criteria?
Tension-type headache is the second most common cause of headache in children. The IHS diagnostic criteria for TTH in children is reproduced below:
A At least 10 previous headache episodes fulfilling features B to D
B Headache lasting from 30 minutes to 7 days
C At least two of the following pain characteristics:
pressing/tightening (non/pulsating) quality
mild or moderate intensity (may inhibit but does not prohibit activity)
bilateral location
no aggravation by routine physical activity
D Both of the following:
no nausea or vomiting
photophobia and phonophobia, or one, but not the other is present
What is kawasaki disease? give 6 features
Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.
Features
-high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
-conjunctival injection
-bright red, cracked lips
-strawberry tongue
-cervical lymphadenopathy
-red palms of the hands and the soles of the feet which later peel
What are the investigations and management of kawasaki diseasE? what are the complications?
Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test.
Management
high-dose aspirin
Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
Complications
coronary artery aneurysm
What is PKU?
Phenylketonuria (PKU) is an autosomal recessive condition caused by a disorder of phenylalanine metabolism. This is usually due to defect in phenylalanine hydroxylase, an enzyme which converts phenylalanine to tyrosine. In a small number of cases the underlying defect is a deficiency of the tetrahydrobiopterin-deficient cofactor, e.g. secondary to defective dihydrobiopterin reductase. High levels of phenylalanine lead to problems such as learning difficulties and seizures. The gene for phenylalanine hydroxylase is located on chromosome 12. The incidence of PKU is around 1 in 10,000 live births.
Give 6 features of PKU
Features
-usually presents by 6 months e.g. with developmental delay
-child classically has fair hair and blue eyes
-learning difficulties
-seizures, typically infantile spasms
-eczema
-‘musty’ odour to urine and sweat*
What is the diagnosis and management of PKU?
Diagnosis
Guthrie test: the ‘heel-prick’ test done at 5-9 days of life - also looks for other biochemical disorders such as hypothyroidism
hyperphenylalaninaemia
phenylpyruvic acid in urine
Management
poor evidence base to suggest strict diet prevents learning disabilities
dietary restrictions are however important during pregnancy as genetically normal fetuses may be affected by high maternal phenylalanine levels
When is the guthrie test performeD? what conditions are screened for? 9
Neonatal blood spot screening (previously called the Guthrie test or ‘heel-prick test’) is performed at 5-9 days of life
The following conditions are currently screened for:
congenital hypothyroidism
cystic fibrosis
sickle cell disease
phenylketonuria
medium chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
How common is childhood eczema?What is th eprognosis?
Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 2 years but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age
What is the management of childhood eczema?
Management
-avoid irritants
-simple emollients
-large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1
-if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid
-creams soak into the skin faster than ointments
-emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)
-topical steroids
-wet wrapping
-large amounts of emollient (and sometimes topical steroids) applied under wet bandages
in severe cases, oral ciclosporin may be used
What is a cephalohaematoma? How long does this take to resolve?
A cephalohaematoma is seen as a swelling on the newborns head. It typically develops several hours after delivery and is due to bleeding between the periosteum and skull. The most common site affected is the parietal region
Jaundice may develop as a complication.
A cephalohaematoma up to 3 months to resolve.
What is the diagnosis and management of headlice?
Diagnosis
fine-toothed combing of wet or dry hair
Management
treatment is only indicated if living lice are found
a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone
household contacts of patients with head lice do not need to be treated unless they are also affected
What is wilms tumour? what are 4 associations?
Wilms’ nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old.
Associations
-Beckwith-Wiedemann syndrome
as part of WAGR syndrome with Aniridia, Genitourinary malformations, mental Retardation
-hemihypertrophy
-around one-third of cases are associated with a loss-of-function mutation in the WT1 gene on chromosome 11
Give 6 features of wilm’s tumour
Features
abdominal mass (most common presenting feature)
painless haematuria
flank pain
other features: anorexia, fever
unilateral in 95% of cases
metastases are found in 20% of patients (most commonly lung)
What is the referral pathway and managemnent of a wilms tumour?
Referral
children with an unexplained enlarged abdominal mass in children - possible Wilm’s tumour - arrange paediatric review with 48 hours
Management
nephrectomy
chemotherapy
radiotherapy if advanced disease
prognosis: good, 80% cure rate
What is a retinoblastoma? what is the pathophysiology?
Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.
Pathophysiology
autosomal dominant
caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
around 10% of cases are hereditary
What are 3 possible features of retinitoblastoma?
Possible features
absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems
What is the management and prognosis of retinoblastoma?
Management
enucleation is not the only option
depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
Prognosis
excellent, with > 90% surviving into adulthood
What is ophthalmia neonatorum? what is the management?
Ophthalmia neonatorum simply means infection of the newborn eye.
Responsible organisms include
Chlamydia trachomatis
Neisseria gonorrhoeae
Suspected ophthalmia neonatorum should be referred for same-day ophthalmology/paediatric assessment.
What 3 things would you refer for developmental delay?
Referral points
doesn’t smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months
What hearing test is offered at:
Newborn
Otoacoustic emission test
All newborns should be tested as part of the Newborn Hearing Screening Programme. A computer-generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea
Newborn & infants Auditory Brainstem Response test
What hearing test is offered at:
Newborn and infants if otoacoustic emission test is abnormal?
Auditory brainstem response
What hearing test is offered at:
6-9mths
Distraction test
Performed by a health visitor, requires two trained staff
What hearing test is offered at:
18mths-2.5yrs
Recognition of familiar objects Uses familiar objects e.g. teddy, cup.
Ask child simple questions - e.g. ‘where is the teddy?’
What hearing test is offered at:
>2.5yrs
- Performance testing
- Speech discrimination tests Uses similar-sounding objects e.g. Kendall Toy test, McCormick Toy Test
What hearing test is offered at:
>3yrs
Pure tone audiometry
-Done at school entry in most areas of the UK
What eye test is offered as a newborn
red reflex
What eye test is offered at 6 weeks
fix and follow to 90degrees i.e. red ball 90cm away
What eye test is offered at 3mths
Fix and follow to 180degrees
no squint
What eye test is offered at 12mths?
can pick up hundreds and thousands with pincer grip
What eye test is offered after 3 yrs, and after 4yrs
> 3 years Letter matching test
> 4 years Snellen charts
Ishihara plates for colour vision
