Passmed wrong answers Flashcards
What are the causes of acyanotic congenital heart disease?
Acyanotic - most common causes
1. ventricular septal defects (VSD) - most common, accounts for 30%
2. atrial septal defect (ASD)
3. patent ductus arteriosus (PDA)
4. coarctation of the aorta
5. 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.
What are the causes of cyanotic congenital heart disease?
Cyanotic - most common causes
1. tetralogy of Fallot
2. transposition of the great arteries (TGA)
3. 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.
Umbilical hernias - associations and treatment. What is the risk?
Umbilical hernia are relatively common in children and may be found during the newborn exam. Usually no treatment is required as they typically resolve by 3 years of age
Associations
1. Afro-Caribbean infants
2. Down’s syndrome
3. mucopolysaccharide storage diseases
Umbilical hernias are relatively common in newborn children, and in 80% will spontaneously close by 4-5 years of age. Usually, hernias are observed until 4-5 years of age. If a hernia persists beyond this age, it should be managed with elective outpatient surgical repair due to the risk of incarceration.
For a large or a symptomatic umbilical hernia, surgeons advocate elective repair at 2-3 years of age. This applies to hernias >1.5 cm (as this size fascial defect is unlikely to resolve spontaneously), or to hernias causing intermittent symptoms of incarceration or recurring pain. This child has a small hernia and is 3 years old and hence can be simply observed until the age of 5 years of age.
If a hernia incarcerates during the observation period, it should be manually reduced with pressure and surgically repaired within 24 hours. If it can’t be reduced, an emergency operation is required. His hernia has not incarcerated and hence does not require an emergency operation.
What are the features, management and complications of chickenpox?
Chickenpox is caused by primary infection with varicella zoster virus. Shingles is a reactivation of the dormant virus in dorsal root ganglion
Chickenpox is highly infectious
- spread via the respiratory route
- can be caught from someone with shingles
- infectivity = 4 days before rash, until 5 days after the rash first appeared*
- incubation period = 10-21 days
Clinical features (tend to be more severe in older children/adults)
- fever initially
- itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
- systemic upset is usually mild
Management is supportive
- keep cool, trim nails
- calamine lotion
- school exclusion: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).
- immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered
A common complication is secondary bacterial infection of the lesions
- NSAIDs may increase this risk
- whilst this commonly may manifest as a single infected lesion/small area of cellulitis, in a small number of patients invasive group A streptococcal soft tissue infections may occur resulting in necrotizing fasciitis
Rare complications include
- pneumonia
- encephalitis (cerebellar involvement may be seen)
- disseminated haemorrhagic chickenpox
- arthritis, nephritis and pancreatitis may very rarely be seen
What are the features of Turner’s syndrome?
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.
Features:
- short stature
- shield chest, widely spaced nipples
- webbed neck
- bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
* 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
What are the features, management and the serious complication of Kawasaki’s disease?
Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.
Features
- high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
- conjunctival infection
- bright red, cracked lips
- strawberry tongue
- cervical lymphadenopathy
- red palms of the hands and the soles of the feet which later peel
- Red rash over trunk
Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test.
Management
1. 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
2. Intravenous immunoglobulin
3. Echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
Complications:
Coronary artery aneurysm
What is Palivizumab?
Palivizumab is a monoclonal antibody which is used to prevent respiratory syncytial virus (RSV) in children who are at increased risk of severe disease.
Those at risk of developing RSV include
- Premature infants
- Infants with lung or heart abnormalities
- Immunocompromised infants
What are the features of neonatal hypoglycaemia?
Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae, as they can utilise alternate fuels like ketones and lactate. There is no agreed definition of neonatal hypoglycaemia but a figure of < 2.6 mmol/L is used in many guidelines.
Transient hypoglycaemia in the first hours after birth is common.
Persistent/severe hypoglycaemia may be caused by:
- preterm birth (< 37 weeks)
- maternal diabetes mellitus
- IUGR
- hypothermia
- neonatal sepsis
- inborn errors of metabolism
- nesidioblastosis
- Beckwith-Wiedemann syndrome
Features
- may be asymptomatic
1. autonomic (hypoglycaemia → changes in neural sympathetic discharge)
- ‘jitteriness’
- irritable
- tachypnoea
- pallor
2. neuroglycopenic
- poor feeding/sucking
- weak cry
- drowsy
- hypotonia
- seizures
3. other features may include
- apnoea
- hypothermia
Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic
1. asymptomatic
- encourage normal feeding (breast or bottle)
- monitor blood glucose
2. symptomatic (eg pale/jittery) or very low blood glucose
- admit to the neonatal unit
- intravenous infusion of 10% dextrose
What are the diagnostic criteria for ADHD
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
- Inattention
- Does not follow through on instructions
- Reluctant to engage in mentally-intense tasks
- Easily distracted
- Finds it difficult to sustain tasks
- Finds it difficult to organise tasks or activities
- Often forgetful in daily activities
- Often loses things necessary for tasks or activities
- Often does not seem to listen when spoken to directly - Hyperactivity/Impulsivity
- Unable to play quietly
- Talks excessively
- Does not wait their turn easily
- Will spontaneously leave their seat when expected to sit
- Is often ‘on the go’
- Often interruptive or intrusive to others
- Will answer prematurely, before a question has been finished
- Will run and climb in situations where it is not appropriate
How is ADHD managed?
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).
Drug therapy should be seen as a last resort and is only available to those aged 5 years or more. Patients with mild/moderate symptoms can usually benefit from their parents attending education and training programmes. For those who fail to respond, or whose symptoms are severe, pharmacotherapy can be considered:
- Methylphenidate is first line in children and should initially be given on a six-week trial basis. It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side-effects include abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months
- If there is inadequate response, switch to lisdexamfetamine;
- Dexamfetamine should be started in those who have benefited from lisdexamfetamine, but who can’t tolerate its side effects.
In adults:
- Methylphenidate or lisdexamfetamine are first-line options;
- Switch between these drugs if no benefit is seen after a trial of the other.
All of these drugs are potentially cardiotoxic. Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity.
At what age does the average child achieve a good pincer grip?
12 months
What are the features, investigations and management of threadworm infestation?
Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment.
Threadworm infestation is asymptomatic in around 90% of cases, possible features include:
- perianal itching, particularly at night
- girls may have vulval symptoms
Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.
Management
CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
- mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists
What are the features and management of nocturnal enuresis?
The majority of children achieve day and night time continence by 3 or 4 years of age. Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’
Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)
Management
1. Look for possible underlying causes/triggers
*constipation
*diabetes mellitus
*UTI if recent onset
2. general advice
*fluid intake
*toileting patterns: encourage to empty bladder regularly during the day and before sleep
*lifting and waking
3. Reward systems (e.g. Star charts)
*NICE recommend these ‘should be given for agreed behaviour rather than dry nights’ e.g. Using the toilet to pass urine before sleep
4. enuresis alarm
* generally first-line for children
* have sensor pads that sense wetness
* high success rate
5. desmopressin
* particularly if short-term control is needed (e.g. for sleepovers) or an enuresis alarm has been ineffective/is not acceptable to the family
What are the causes of cerebral palsy?
- antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
- intrapartum (10%): birth asphyxia/trauma
- postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
What are the possible manifestations of cerebral palsy?
Possible manifestations include:
- abnormal tone early infancy
- delayed motor milestones
- abnormal gait
- feeding difficulties.
Children with cerebral palsy often have associated non-motor problems such as:
- learning difficulties (60%)
- epilepsy (30%)
- squints (30%)
- hearing impairment (20%)
What are the types of cerebral palsy?
- spastic (70%)
- subtypes include hemiplegia, diplegia or quadriplegia
- increased tone resulting from damage to upper motor neurons - dyskinetic
- caused by damage to the basal ganglia and the substantia nigra
- athetoid movements and oro-motor problems - ataxic
- caused by damage to the cerebellum with typical cerebellar signs - mixed
How is cerebral palsy managed?
- as with any child with a chronic condition a multidisciplinary approach is needed
- treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
- anticonvulsants, analgesia as required
Where in the childhood immunisation schedule is Meningitis B vaccine given?
2 months
4 months
12 months
(it is called Bexsero - will also be available for patients at high risk of meningococcal disease, such as asplenia, splenic dysfunction or complement disorder)
What are the features of pyloric stenosis and what are the resulting electrolyte changes? How is it diagnosed and managed?
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.
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 the risk of methylphenidate use for ADHD in children?
Methylphenidate, a stimulant, may suppress appetite and cause growth impairment in children. It is advised to monitor growth as well as blood pressure and pulse in these patients on a regular basis.
What is the difference between neonatal death, miscarriage, perinatal death and puerperal death?
Neonatal death is defined as a death in the first 28 days of life. An early neonatal death refers to a death within the first week of life. A late neonatal death refers to death after 7 days of life, but before 28 days.
Miscarriage (in the UK) is death in utero before 24 weeks of gestation.
Puerperal death refers to a maternal death within the puerperal period (first 6 weeks after birth).
Perinatal death is a term sometimes used to classify deaths that are a result of obstetric events, the term encompasses stillbirths and deaths within the first week of life.
What pathogen causes threadworm infection?
Enterobius vermicularis
What is hypospadias? What are the features?
Hypospadias is a congenital abnormality of the penis which occurs in approximately 3/1,000 male infants. There appears to be a significant genetic element, with further male children having a risk of around 5-15%.
It is usually identified on the newborn baby check. If missed, parents may notice an abnormal urine stream.
Hypospadias is characterised by
- a ventral urethral meatus
- a hooded prepuce
- chordee (ventral curvature of the penis) in more severe forms
- the urethral meatus may open more proximally in the more severe variants. However, 75% of the openings are distally located.
Hypospadias most commonly occurs as an isolated disorder. However, associated conditions include cryptorchidism (present in 10%) and inguinal hernia.
How is hypospadias managed?
- once hypospadias has been identified, infants should be referred to specialist services
- corrective surgery is typically performed when the child is around 12 months of age
- it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure
- in boys with very distal disease, no treatment may be needed.
An indication for more urgent referral would be failure or difficulty to pass urine
What is therapeutic cooling and when is it used?
Therapeutic cooling (otherwise known as therapeutic hypothermia) is the deliberate lowering of a patient’s body temperature. The intention of this is to cool the brain, and subsequently prevent brain damage.
The use of therapeutic cooling in the treatment of carefully selected term neonates with moderate to severe hypoxic ischaemic encephalopathy has been recommended as standard care by NICE. It has been shown in studies to decrease mortality and improve the neurological and neurodevelopmental outcomes of treated neonates.
Therapeutic cooling remains the only intervention shown to reduce neuronal damage caused by perinatal hypoxia.
What is hypoxic ischaemic encephalopathy?
Hypoxic perinatal brain injury is caused by a decrease in the amount of oxygen supplied to an infant’s brain just prior to, or during the process of, labour. Neonates who survive a hypoxic brain injury can develop HIE.
An estimated 10% - 60% of infants with HIE die during the neonatal period, and an estimated 25% of those who survive suffer from long-term neurological impairment including epilepsy, mental retardation or cerebral palsy.
What is the pathophysiology of neonatal hypoxic brain injuries?
Primary neuronal death occurs at the time of severe ischaemic insult.
Secondary neuronal death (resulting in irreversible failure of mitochondrial function) occurs after a period of at least six hours post ischaemic insult.
This model of neuronal death suggests there is a latent period between the successful resuscitation and reperfusion post primary neuronal death, and secondary neuronal death. This period of approximately 1-6 hours provides a therapeutic window for neuroprotective intervention.
Therapeutic Cooling is thought to influence the extent of secondary neuronal death in a multifactorial manner.
Existing studies suggest it is related to:
1. The reduction of cerebral oxygen consumption
2. An increase in haemoglobin oxygen-binding affinity
3. Inhibition of the synthesis, release, and/or reuptake of neurotransmitters and neuromodulators, including glutamate, glycine, GABA, dopamine, norepinephrine, serotonin, and adenosine.
4. The reduction of nitric oxide, and other toxic free radicals.
What are the criteria for the use of therapeutic cooling in neonates?
- Neonates with a gestational age ≥36 weeks and birth weight >1800g
- History of acute perinatal event during delivery associated with period of hypoxia, and/or an Apgar score ≤5 at 10 minutes or at least 10 minutes of positive-pressure ventilation
- Severe metabolic acidosis on cord gas, or blood gas taken within 1hr of birth
- Evidence of moderate-severe HIE – demonstrated by onset of seizures, and/or on the basis of clinical assessment of consciousness level, spontaneous activity, posture, tone, primitive reflexes, and autonomic systems.
Electroencephalogram (EEG) is useful in determining eligibility (by detection of abnormal neuronal function and/or seizures).
Therapeutic cooling should not be offered to:
- Moribund infants
- Infants with major congenital/genetic abnormalities where aggressive treatment is deemed inappropriate
- Infants with evidence of severe head trauma/intracranial bleeding
How is therapeutic cooling carried out and what are the target temperatures?
Treatment must be initiated within 6 hours of birth and continued for a period of 72 hours.
Methods of Cooling:
1. Whole-body cooling- placing the infant on a cooling blanket or mattress circulated with coolant fluid.
2. Selective head cooling- circulating cold water in a cap fitted around the head.
Whole-body cooling is most often used. It is reported to be easier to set up, less expensive, and provides easier access to perform EEG. Existing studies however suggest that both methods of cooling are appropriate and equivalent in regard to neonatal outcomes.
Temperature is continuously monitored throughout the treatment using either a rectal or nasopharyngeal thermometer.
Target Temperatures (rectal or oesophageal):
- 33°C to 34°C (for whole body cooling)
- 34°C to 35°C (for selective head cooling)
Following cooling rewarming should be carried out slowly (0.5°C every 1 to 2 hours) over a period of 6-12 hours.
What are the complications of therapeutic cooling?
Close surveillance of infants during the cooling process is required given the risk for complications of both HIE, and the process of cooling itself.
Serious adverse effects are reported as rare. Existing studies suggest that the benefits of cooling on survival and neurodevelopment outweigh the (usually) short‐term adverse effects.
Reported complications include the following:
1. Cardiac and Pulmonary: Arrhythmias (most commonly Sinus Bradycardia, but Ventricular Arrhythmias also reported), Prolonged QT interval, Reduced Cardiac Output and Hypotension, Reduced Surfactant production, Increased Pulmonary vascular resistance (which can lead to Persistent Pulmonary Hypertension)
- For these reasons neonates undergoing therapeutic cooling require continuous cardiorespiratory monitoring, and ventilator support during their treatment.
- Haematological: Anaemia, Coagulopathy secondary to thrombocytopaenia, Leucopaenia
- Some neonates require correction of these abnormalities using blood components. Monitoring for signs of sepsis, due to increased susceptibility, are also required. - Renal and Liver Toxicity: Renal impairment (association with urinary retention), Impaired liver function (most commonly hyperbilirubinemia)
- Metabolic: Metabolic and lactic acidosis, Hypokalaemia, Hypoglycaemia, Hypocalcaemia
- Neurological: Seizures, Raised intracranial pressure
- EEG monitoring is important during the cooling process. Sedation is required for patient comfort and to reduce the patient’s metabolic rate to increase the efficacy of the cooling procedure. - Skin: Skin breakdown, Local skin haemorrhage, Subcutaneous fat necrosis
- The risk of skin complications developing can be reduced by regular skin inspections, and repositioning of neonates undergoing treatment.
Indications to stop hypothermia and rewarm the infant include:
- Hypotension (unresponsive to inotropes)
- Persistent pulmonary hypertension with associated hypoxemia (despite treatment)
- Clinically significant coagulopathy (despite treatment)
It is uncommon to stop cooling due to complications. Existing studies suggest this occurs in <10% of cases.
Rewarming must be carried out slowly to reduce the risk of complications (most commonly metabolic disturbances, and seizures) occurring.
What is immune thrombocytopaenia and what are the features?
Immune (or idiopathic) thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.
ITP in children is typically more acute than in adults and may follow an infection or vaccination.
Features
- bruising
- petechial or purpuric rash
- bleeding is less common and typically presents as epistaxis or gingival bleeding
How is immune thrombocytopenia investigated?
- full blood count - should demonstrate an isolated thrombocytopenia
- blood film
- bone marrow examinations is only required if there are atypical features e.g. lymph node enlargement/splenomegaly, high/low white cells, failure to resolve/respond to treatment
How is immune thrombocytopenia managed?
usually, no treatment is required
ITP resolves in around 80% of children with 6 months, with or without treatment
- advice to avoid activities that may result in trauma (e.g. team sports)
other options may be indicated if the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding. Options include:
*oral/IV corticosteroid
*IV immunoglobulins
*platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies
When is BCG vaccine indicated in children?
BCG vaccination is recommended for babies up to one year of age who:
- are born in areas of the UK with high rates of TB
- have a parent or grandparent who was born in a country with high rates of TB
When is yellow fever vaccination indicated in children?
Yellow fever vaccination is recommended for travellers over 1-year old arriving from countries with risk of yellow fever transmission, including sub-Saharan Africa and tropical South America.
When is Hepatitis A vaccination recommended in children?
Hepatitis A vaccine is recommended children over 1-year-old travelling to certain countries including much of Africa, Asia and Central and South America.
What are the contraindications and cautions to giving vaccines?
General contraindications to immunisation
- confirmed anaphylactic reaction to a previous dose of a vaccine containing the same antigens
- confirmed anaphylactic reaction to another component contained in the relevant vaccine (e.g. egg protein)
Situations where vaccines should be delayed
- febrile illness/intercurrent infection
Contraindications to live vaccines
- pregnancy
- immunosuppression
Specific vaccines
- DTP: vaccination should be deferred in children with an evolving or unstable neurological condition
What type of inheritance is Haemophilia A?
X-linked
How is pneumonia caused by mycoplasma or chlamydia treated?
With macrolides eg erythromycin
How is pnuemonia caused by influenza treated?
Co-amoxiclav
When is intervention for obesity generally required in a child?
- consider tailored clinical intervention if BMI at 91st centile or above.
- consider assessing for comorbidities if BMI at 98th centile or above
What are the causes of obesity in children?
By far the most common cause of obesity in childhood is lifestyle factors. Other associations of obesity in children include:
Asian children: four times more likely to be obese than white children
female children
taller children: children with obesity are often above the 50th percentile in height
Cause of obesity in children
- growth hormone deficiency
- hypothyroidism
- Down’s syndrome
- Cushing’s syndrome
- Prader-Willi syndrome
What are the consequences of obesity in children?
- orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
- psychological consequences: poor self-esteem, bullying
- sleep apnoea
- benign intracranial hypertension
- long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
What is the pathophysiology of retinoblastoma?
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 the possible features of retinoblastoma?
- absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
- strabismus
- visual problems
How is retinoblastoma managed?
- enucleation is not the only option
- depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
What is the prognosis of retinoblastoma?
excellent, with > 90% surviving into adulthood
How is neonatal sepsis categorised?
Neonatal sepsis occurs when a serious bacterial or viral infection in the blood affects babies within the first 28 days of life. Neonatal sepsis is categorised into early-onset (EOS, within 72 hours of birth) and late-onset (LOS, between 7-28 days of life) sepsis, with each category tending to have a distinct group of causes and common presentations.
What are the possible causes of neonatal sepsis?
- The overall most common causes of neonatal sepsis are group B streptococcus (GBS) and Escherichia coli, accounting for approximately two thirds of neonatal sepsis cases.
Early-onset sepsis in the UK is primarily caused by GBS infection (75%)- Infective causes in early-onset sepsis are usually due to transmission of pathogens from the mother to the neonate during delivery
Late-onset sepsis usually occurs via the transmission of pathogens from the environment post-delivery, this is normally from contacts such as the parents or healthcare workers
- Infective causes are more commonly coagulase-negative staphylococcal species such as Staphylococcus epidermidis, Gram-negative bacteria such as Pseudomonas aeruginosa, Klebsiella and Enterobacter, and fungal species
Other less common causes include:
- Staphylococcus aureus
- Enterococcus
- Listeria monocytogenes
- Viruses including herpes simplex and enterovirus
What are the risk factors for neonatal sepsis?
- Mother who has had a previous baby with GBS infection, who has current GBS colonisation from prenatal screening, current bacteruria, intrapartum temperature ≥38ºC, membrane rupture ≥18 hours, or current infection throughout pregnancy
- Premature (<37 weeks): approximately 85% of neonatal sepsis cases are in premature neonates
- Low birth weight (<2.5kg): approximately 80% are low birth weight
- Evidence of maternal chorioamnionitis
What are the presenting features of neonatal sepsis?
- Respiratory distress (85%) - Grunting, Nasal flaring. Use of accessory respiratory muscles, Tachypnoea
- Tachycardia: common, but non-specific
- Apnoea (40%)
- Apparent change in mental status/lethargy
- Jaundice (35%)
- Seizures (35%): if cause of sepsis is meningitis
- Poor/reduced feeding (30%)
- Abdominal distention (20%)
- Vomiting (25%)
- Temperature: not usually a reliable sign as the temperature can vary from being raised, lowered or normal. Term infants are more likely to be febrile. Pre-term infants are more likely to be hypothermic
- The clinical presentation can vary from very subtle signs of illness to clear septic shock
- Frequently, the symptoms will be related to the source of infection (e.g. pneumonia + respiratory symptoms, meningitis + neurological symptoms)
How is neonatal sepsis investigated?
- Blood culture: this will usually establish the diagnosis, as the sensitivity for septicaemia is around 90%. Should usually obtain two blood cultures if possible to distinguish from contamination, however one culture is still sufficient depending on hospital protocol
- Full blood examination: neonatal sepsis is often associated with abnormal neutrophil counts (both neutrophilia and neutropenia), however in neonates, parameters on full blood examination are usually not always useful for diagnosis, rather may help to exclude healthy neonates
- C-reactive protein: not useful for diagnosis, but sequential assessment will help to guide management and patient progress with treatment. CRP will usually be raised, and a persistently normal level is likely to exclude neonatal sepsis
- Blood gases: metabolic acidosis is particularly concerning for neonatal sepsis, particularly a base deficit of ≥10 mmol/L
- Urine microscopy, culture and sensitivity: rarely positive in EOS, more useful in LOS. Will show signs of infection (e.g. raised leukocytes, positive culture, haematuria, proteinuria) if urinary tract infection is the source of sepsis
- Lumbar puncture: particularly if there is concern of meningitis as the source of sepsis based on clinical features, however many hospitals will require lumbar puncture as part of a septic screen in any baby below the age of 28 days
How is neonatal sepsis managed?
- In neonatal sepsis, the most important part of management to improve outcomes is early identification and treatment
- The NICE guidelines recommend use of intravenous benzylpenicillin with gentamicin as a first-line regimen for suspected or confirmed neonatal sepsis
- The exception to this is if microbiological surveillance data reveal local bacterial resistance patterns, in which case an alternative antibiotic should be considered
- CRP should be re-measured 18–24 hours after presentation in babies given antibiotics to monitor ongoing progress and guide duration of therapy
- The evidence suggests that antibiotics can be ceased at 48 hours in neonates who have CRP of <10 mg/L and a negative blood culture at presentation and at 48 hours
- In all other neonates, the duration of antibiotic treatment will depend on the ongoing investigations and clinical picture, this will involve specialist decision making. Normally, in neonates with culture-proven sepsis, duration will be approximately 10 days - Other important management factors to consider include:
- Maintaining adequate oxygenation status
- Maintaining normal fluid and electrolyte status: severely ill neonates may require volume and/or vasopressor support. Body weight needs to be measured daily for accurate assessment of fluid status
- Prevention and/or management of hypoglycaemia
- Prevention and/or management of metabolic acidosis
What are the criteria for an immediate CT scan of the head in paediatric head injury?
- Loss of consciousness lasting more than 5 minutes (witnessed)
- Amnesia (antegrade or retrograde) lasting more than 5 minutes
- Abnormal drowsiness
- Three or more discrete episodes of vomiting
- Clinical suspicion of non-accidental injury
- Post-traumatic seizure but no history of epilepsy
- GCS less than 14, or for a baby under 1 year GCS (paediatric) less than 15, on assessment in the emergency department
- Suspicion of open or depressed skull injury or tense fontanelle
- Any sign of basal skull fracture (haemotympanum, panda’ eyes, cerebrospinal fluid leakage from the ear or nose, Battle’s sign)
- Focal neurological deficit
- If under 1 year, presence of bruise, swelling or laceration of more than 5 cm on the head
- Dangerous mechanism of injury (high-speed road traffic accident either as pedestrian, cyclist or vehicle occupant, fall from a height of greater than 3 m, high-speed injury from a projectile or an object)
What are the features that may present in a sexually abused child?
- pregnancy
- sexually transmitted infections, recurrent UTIs
- sexually precocious behaviour
- anal fissure, bruising
- reflex anal dilatation
- enuresis and encopresis
- behavioural problems, self-harm
- recurrent symptoms e.g. headaches, abdominal pain
What is developmental delay?
Abnormal development or developmental delay refers to a significant lag in a child’s physical, cognitive, behavioural, emotional, or social development, relative to established growth milestones. It is crucial for clinicians to identify and address these delays promptly to improve long-term outcomes.
What are the common reasons for gross motor delay?
variant of normal, cerebral palsy and neuromuscular disorders (e.g. Duchenne muscular dystrophy)
What are the common root causes for developmental delay?
The root cause may be genetic disorders, prenatal exposure to toxins/drugs/alcohol, premature birth, nutritional deficiencies or environmental factors
What are the differentials for developmental delay in children?
- Autism Spectrum Disorder (ASD): Characterised by impairments in social interaction and communication alongside restricted interests and repetitive behaviours.
- Cerebral Palsy: A group of permanent movement disorders appearing in early childhood due to abnormal brain development or damage.
- Fragile X Syndrome: A genetic condition causing intellectual disability, behavioural challenges and various physical characteristics.
- Down Syndrome: A chromosomal disorder leading to intellectual disability and characteristic facial features.
- Fetal Alcohol Spectrum Disorders (FASDs): A range of effects that can occur in an individual exposed to alcohol before birth.
What is the initial management of a child with suspected developmental delay?
- Clinical Examination: A thorough physical and neurological examination to assess the child’s developmental milestones.
- Investigations: These may include genetic testing, metabolic screening, neuroimaging studies (MRI or CT scan), and hearing/vision assessments.
- Referral for Specialist Assessment: If a specific cause is suspected, referral to a paediatric neurologist, geneticist or developmental paediatrician may be necessary.
- Early Intervention Services: Regardless of the underlying cause, all children with developmental delays can benefit from early intervention services such as occupational therapy, speech and language therapy, physiotherapy and educational support.
What is hand, foot and mouth disease and what are the features?
Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery
Clinical features
- mild systemic upset: sore throat, fever
- oral ulcers
- followed later by vesicles on the palms and soles of the feet
How is hand, foot and mouth disease managed?
- 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.
What is a Wilm’s tumour and what is it associated with?
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
What are the features of Wilm’s tumour?
- 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)
How is Wilm’s tumour managed?
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 are the examination signs of patent ductus arteriosus?
- left subclavicular thrill
- continuous ‘machinery’ murmur
- large volume, bounding, collapsing pulse
- wide pulse pressure
- heaving apex beat
What are the characteristics of innocent murmurs in children?
Innocent murmurs heard in children include
- Ejection murmurs - Due to turbulent blood flow at the outflow tract of the heart
- Venous hums- Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles
- Still’s murmur- Low-pitched sound heard at the lower left sternal edge
Characteristics of an innocent ejection murmur include:
- soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
- may vary with posture
- localised with no radiation
- no diastolic component
- no thrill
- no added sounds (e.g. clicks)
- asymptomatic child
- no other abnormality
What is scarlet fever and how is it caused?
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).
What are the features of scarlet fever?
Scarlet fever has an incubation period of 2-4 days and typically presents with:
- fever: typically lasts 24 to 48 hours
- malaise, headache, nausea/vomiting
- sore throat
- ‘strawberry’ tongue
- rash
- fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles
- children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures
- it is often described as having a rough ‘sandpaper’ texture
- desquamination occurs later in the course of the illness, particularly around the fingers and toes
How is scarlet fever diagnosed and managed?
Diagnosis
a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
Management
- oral penicillin V for 10 days (phenoxymethylpenicillin)
- patients who have a penicillin allergy should be given azithromycin
- children can return to school 24 hours after commencing antibiotics
- scarlet fever is a notifiable disease
What are the complications of scarlet fever?
- 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 biliary atresia?
Biliary atresia is a paediatric condition involving either obliteration or discontinuity within the extrahepatic biliary system, which results in an obstruction in the flow of bile. This results in a neonatal presentation of cholestasis in the first few weeks of life. The pathogenesis of biliary atresia is unclear, however, infectious agents, congenital malformations and retained toxins within the bile are all contributing factors.
What are the types of biliary atresia?
Type 1: The proximal ducts are patent, however, the common duct is obliterated
Type 2: There is atresia of the cystic duct and cystic structures are found in the porta hepatis
Type 3: There is atresia of the left and right ducts to the level of the porta hepatis, this occurs in >90% of cases of biliary atresia
How does biliary atresia present?
- Jaundice extending beyond the physiological two weeks
- Dark urine and pale stools
- Appetite and growth disturbance, however, may be normal in some cases
- Hepatomegaly with splenomegaly
- Abnormal growth
- Cardiac murmurs if associated cardiac abnormalities present
How is biliary atresia investigated?
- Serum bilirubin including differentiation into conjugated and total bilirubin: Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
- Liver function tests (LFTs) including serum bile acids and aminotransferases are usually raised but cannot differentiate between biliary atresia and other causes of neonatal cholestasis
- Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
- Sweat chloride test: Cystic fibrosis often involves the biliary tract
- Ultrasound of the biliary tree and liver: May show distension and tract abnormalities
- Percutaneous liver biopsy with intraoperative cholangioscopy
How is biliary atresia managed?
- Surgical intervention is the only definitive treatment for biliary atresia: Intervention may include dissection of the abnormalities into distinct ducts and anastomosis creation. A hepatoportoenterostomy (HPE) can be performed. This is also known as Kasai portoenterostomy and it allows bile drainage. In this procedure, the blocked bile ducts are removed and replaced with a segment of the small intestine. This restores bile flow from the liver to the proximal small bowel.
- Medical intervention includes antibiotic coverage and bile acid enhancers following surgery
What are the complications of biliary atresia?
- Unsuccessful anastomosis formation
- Progressive liver disease
- Cirrhosis with eventual hepatocellular carcinoma
In cases where surgery fails, liver transplantation may be required in the first two years of life. Transplantation is also considered if there are signs of end-stage liver disease, progressive cholestasis, hepatocellular decompensation or the development of severe portal hypertension.
Which delayed motor milestones should elicit suspicion of Cerebral Palsy?
- Not sitting by 8 months (corrected for gestational age)
- Not walking by 18 months (corrected for gestational age)
- Early asymmetry of hand function (hand preference) before 1 year (corrected for gestational age)
- Persistent toe-walking
All newborn babies should have their hearing checked by the health visitor as part of the ‘Newborn Hearing Screening Programme’. If this is abnormal they go on to have which hearing test?
If a newborn baby has an abnormal hearing test at birth they are offered the auditory brainstem response test
Which types of hearing tests are used at which stage?
- 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
2 Newborn & infants: Auditory Brainstem Response test
May be done if otoacoustic emission test is abnormal
- 6-9 months: Distraction test Performed by a health visitor, requires two trained staff
- 18 months - 2.5 years: Recognition of familiar objects
Uses familiar objects e.g. teddy, cup. Ask child simple questions - e.g. ‘where is the teddy?’ - > 2.5 years: Performance testing -
- > 2.5 years: Speech discrimination tests
Uses similar-sounding objects e.g. Kendall Toy test, McCormick Toy Test - > 3 years: Pure tone audiometry Done at school entry in most areas of the UK
As well as the above test there is a questionnaire for parents in the Personal Child Health Records - ‘Can your baby hear you?’
Why should patients with CF try to minimise contact with each other?
to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
What are the major speech and hearing developmental milestones?
3 months: Quietens to parents voice, Turns towards sound, Squeals
6 months: Double syllables ‘adah’, ‘erleh’
9 months: Says ‘mama’ and ‘dada’, Understands ‘no’
12 months: Knows and responds to own name
12-15 months: Knows about 2-6 words (Refer at 18 months), Understands simple commands - ‘give it to mummy’
2 years: Combine two words, Points to parts of the body
2½ years: Vocabulary of 200 words
3 years: Talks in short sentences (e.g. 3-5 words), Asks ‘what’ and ‘who’ questions, Identifies colours, Counts to 10 (little appreciation of numbers though)
4 years: Asks ‘why’, ‘when’ and ‘how’ questions
When is the MMR vaccine given?
12 months
3years and 4 months (40 months)
When is the 6in1 vaccine given and what does it contain?
8,12 and 16 weeks
- Diptheria
- Tetanus
- Pertussis (whooping cough)
- Polio
- Haemophilus Influenzae type b (Hib)
- Hepatitis B
When is the pneumococcal conjugate vaccine given?
8 weeks and 16 weeks
Helps to protect against pneumococcal infection which can cause diseases like pneumonia, septicaemia and meningitis
When is the MenB vaccine given?
8 weeks and 16 weeks
Booster at 1 year
When is the oral rotavirus vaccine given?
8 weeks. 12 weeks
What is the 4-in-1 preschool booster and when is it given?
- Diptheria
- Tetanus
- Whooping cough
- Polio
Given between 3-4 years
What is in the 3-in-1 teenage booster and when is it given?
- Tetanus
- Diptheria
- Polio
Given 13-18 years
What are the clinical features of Acute lymphoblastic leukaemia?
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias. The peak incidence is at around 2-5 years of age and boys are affected slightly more commonly than girls
Features may be divided into those predictable by bone marrow failure:
- anaemia: lethargy and pallor
- neutropaenia: frequent or severe infections
- thrombocytopenia: easy bruising, petechiae
And other features
- bone pain (secondary to bone marrow infiltration)
- splenomegaly
- hepatomegaly
- fever is present in up to 50% of new cases (representing infection or constitutional symptom)
- testicular swelling
What are the types of ALL?
- common ALL (75%), CD10 present, pre-B phenotype
- T-cell ALL (20%)
- B-cell ALL (5%)
How is pseudomonas aeruginosa infection managed in children with CF?
Pseudomonas aeruginosa is an opportunistic gram-negative bacteria that causes significant morbidity and mortality in patients with cystic fibrosis (CF). This is a clinically important transition stage in the care of a patient with CF, and attempts should be made to eradicate the bacteria if possible because Pseudomonas aeruginosa colonisation can cause a rapid decline in lung function and increased hospitalisations for pneumonia.
Oral ciprofloxacin is recommended and is combined with inhaled antibiotics for eradication.
What is the PDA murmur?
Continuous murmur heard loudest under the left clavicle
What is the ASD murmur?
ASD’s have a fixed split S2 sound due to the increased venous return overloading the right ventricle during inspiration and delaying closure of the pulmonary valve.
What is the VSD murmur?
VSD are associated with a pansystolic murmur.
What causes Roseola infantum?
Herpesvirus type 6
Generalised pink papular or maculpapular rash which starts on the trunk before spreading to the face and limbs. The high fever (lasts about 3 days) precedes the rash, whivh appears 1-2 weeks later and once the rash appears, the child’s temperature returns to normal (ie rash occurs as fever is disappearing)
What are the features of transient synovitis and how is it managed?
Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain following a recent viral infection. It is the commonest cause of hip pain in children. The typical age group is 3-8 years.
Features
- limp/refusal to weight bear
- groin or hip pain
- a low-grade fever is present in a minority of patients
- high fever should raise the suspicion of other causes such as septic arthritis
- fever is a red flag, indicating the need for urgent specialist assessment
- children may be monitored in primary care (with a presumptive diagnosis of transient synovitis) ‘If the child is aged 3–9 years, well, afebrile, mobile but limping, and has had the symptoms for less than 72 hours
Transient synovitis is self-limiting, requiring only rest and analgesia.
What are the risk factors for DDH?
- female sex: 6 times greater risk
- breech presentation
- positive family history
- firstborn children
- oligohydramnios
- birth weight > 5 kg
- congenital calcaneovalgus foot deformity
How is DDH screened for?
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
- 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
How is DDH diagnosed?
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
How is DDH managed?
- 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 an absolute contraindication to lung transplantation in cystic fibrosis?
Chronic infection with Burkholderia cepacia
What is gastroschisis and how is it managed?
Gastroschisis describes a congenital defect in the anterior abdominal wall just lateral to the umbilical cord. This allows the intestines to extend outside of the baby’s body
Management
- vaginal delivery may be attempted
- newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours, whilst waiting the bowel should be protected with cling-film.
What is an exomphalos (omphalocoele) and how is it managed?
In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
Associations
- Beckwith-Wiedemann syndrome
- Down’s syndrome
- cardiac and kidney malformations
Management
- caesarean section is indicated to reduce the risk of sac rupture
- a staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure (and gradual repair helps to prevent respiratory complications)
*if this occurs the sacs is allowed to granulate and epithelialise over the coming weeks/months
*this forms a ‘shell’
*as the infant grows a point will be reached when the sac contents can fit within the abdominal cavity. At this point the shell will be removed and the abdomen closed
How is a mild-moderate acute asthma attack managed?
- 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
How is eczema managed?
- 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
Which feature indicates an adrenal cause of precocious puberty?
Normal/small testes
What are the two classifications of precocious puberty?
- 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
In males it is uncommon and usually has an organic cause.
What is the recognised radiological feature in rickets?
Widening of joints due to an excess of non-mineralised osteoid at the growth plate
‘rickety rosary’ - swelling at the costochondral joint
What is Klinefelter’s syndrome?
Klinefelter’s syndrome, a type of primary hypogonadism, is associated with karyotype 47, XXY
Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition:
- Taller height
- Wider hips
- Gynaecomastia: increased incidence of breast cancer
- Weaker muscles
- Small, firm testicles
- Reduced libido
- Shyness
- Infertility
- Subtle learning difficulties (particularly affecting speech and language)
- lack of secondary sexual characteristics
- elevated gonadotrophin levels (LH)
- Low Testosterone
Diagnosis is by chromosomal analysis
What are the associated health conditions with Klinefelter’s syndrome?
Life expectancy is close to normal. Infertility can occasionally be treated with advanced IVF techniques.
There is a slight increased risk of:
- Breast cancer compared with other males (but still less than females)
- Osteoporosis
- Diabetes
- Anxiety and depression
