Paeds Flashcards
Q: What type of disorder is achondroplasia and what is it associated with?
A: Achondroplasia is an autosomal dominant disorder associated with short stature.
Q: What gene mutation causes achondroplasia?
A: A mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene causes achondroplasia.
Q: What are the characteristics of abnormal cartilage in achondroplasia?
A: Characteristics include 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, and lumbar lordosis.
Q: What is the main risk factor for achondroplasia?
A: The main risk factor is advancing parental age at the time of conception.
Q: How is achondroplasia typically inherited?
Q: How is achondroplasia typically inherited?
A: Once present, achondroplasia is typically inherited in an autosomal dominant fashion.
Q: Is there a specific therapy for achondroplasia?
A: There is no specific therapy for achondroplasia.
Q: What treatment can benefit some individuals with achondroplasia?
A: Some individuals benefit from limb lengthening procedures, which usually involve the application of Ilizarov frames and targeted bone fractures.
Q: What causes acute epiglottitis?
A: Acute epiglottitis is caused by Haemophilus influenzae type B.
Q: Why is prompt recognition and treatment essential in acute epiglottitis?
A: Prompt recognition and treatment are essential because airway obstruction may develop.
Q: What are the features of acute epiglottitis?
A: Features include rapid onset, high temperature, generally unwell, stridor, drooling of saliva, and the ‘tripod’ position.
Q: What is the ‘tripod’ position in acute epiglottitis?
A: The ‘tripod’ position is when the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position.
Q: How is the diagnosis of acute epiglottitis made?
A: Diagnosis is made by direct visualisation by senior/airway trained staff. X-rays may be done, with a lateral view showing the ‘thumb sign’.
Q: What does a lateral view x-ray show in acute epiglottitis?
A: A lateral view in acute epiglottitis will show swelling of the epiglottis, known as the ‘thumb sign’.
Q: What does a posterior-anterior view x-ray show in croup?
A: A posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’.
Q: What is the initial management of acute epiglottitis?
A: Initial management includes immediate senior involvement, endotracheal intubation if necessary, not examining the throat if suspected, providing oxygen, and administering intravenous antibiotics.
Q: Why should the throat not be examined if acute epiglottitis is suspected?
A: The throat should not be examined due to the risk of acute airway obstruction.
Q: What is the most common malignancy affecting children?
A: Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children.
Q: At what age does the peak incidence of acute lymphoblastic leukaemia (ALL) occur?
A: The peak incidence of acute lymphoblastic leukaemia (ALL) occurs at around 2-5 years of age.
Q: What are some features of acute lymphoblastic leukaemia (ALL) caused by bone marrow failure?
A: Features include anaemia (lethargy and pallor), neutropaenia (frequent or severe infections), and thrombocytopenia (easy bruising, petechiae).
Q: What are some other features of acute lymphoblastic leukaemia (ALL)?
A: Other features include bone pain (secondary to bone marrow infiltration), splenomegaly, hepatomegaly, fever (present in up to 50% of new cases), and testicular swelling.
Q: What is the phenotype and marker for common ALL?
A: Common ALL has a pre-B phenotype and CD10 is present.
Q: What are the poor prognostic factors for acute lymphoblastic leukaemia (ALL)?
A: Poor prognostic factors include age < 2 years or > 10 years, WBC > 20 * 10^9/L at diagnosis, T or B cell surface markers, non-Caucasian ethnicity, and male sex.
Q: What is the most important condition to exclude in a child with an acute scrotal presentation?
A: It is essential to exclude testicular torsion, as immediate surgery is required.
Q: At what age is testicular torsion most common in children?
A: Testicular torsion is most common around puberty.
Q: At what age is an irreducible inguinal hernia most common in children?
A: An irreducible inguinal hernia is most common in children < 2 years old.
Q: Is epididymitis common in prepubescent children?
A: Epididymitis is rare in prepubescent children.
Q: What causes alpha-thalassaemia?
A: Alpha-thalassaemia is due to a deficiency of alpha chains in haemoglobin.
Q: Where are the alpha-globulin genes located?
A: The alpha-globulin genes are located on each chromosome 16.
Q: How does clinical severity in alpha-thalassaemia depend on the number of affected alpha-globulin alleles?
1 or 2 affected alleles: blood picture is hypochromic and microcytic, but Hb level is typically normal.
3 affected alleles: results in hypochromic microcytic anaemia with splenomegaly, known as Hb H disease.
4 affected alleles (homozygote): leads to death in utero (hydrops fetalis, Bart’s hydrops).
Q: What is the most common cause of ambiguous genitalia in newborns?
A: The most common cause is congenital adrenal hyperplasia.
Q: What are other causes of ambiguous genitalia?
A: Other causes include true hermaphroditism and maternal ingestion of androgens.
Q: When is the Apgar score assessed according to NICE guidelines?
A: The Apgar score is assessed at 1 and 5 minutes of age. If the score is low, it is repeated at 10 minutes.
Q: What is the score for a pulse rate > 100 in the Apgar score?
A: A pulse rate > 100 gives a score of 2.
Q: What is the score for a weak, irregular respiratory effort in the Apgar score?
A: A weak, irregular respiratory effort gives a score of 1.
Q: What does a score of 0 indicate for respiratory effort in the Apgar score?
A: A score of 0 for respiratory effort indicates nil effort.
Q: What does a score of 2 indicate for muscle tone in the Apgar score?
A: A score of 2 for muscle tone indicates active movement.
Q: What does a score of 1 indicate for muscle tone in the Apgar score?
A: A score of 1 for muscle tone indicates limb flexion.
Q: What does a score of 0 indicate for muscle tone in the Apgar score?
A: A score of 0 for muscle tone indicates flaccid muscles.
Q: What does a score of 2 indicate for reflex irritability in the Apgar score?
A: A score of 2 for reflex irritability indicates the baby cries on stimulation, sneezes, or coughs.
Q: What does a score of 1 indicate for reflex irritability in the Apgar score?
A: A score of 1 for reflex irritability indicates a grimace.
Q: What does a score of 0 indicate for reflex irritability in the Apgar score?
A: A score of 0 for reflex irritability indicates no response.
Q: What is the interpretation of a score between 0-3 on the Apgar scale?
A: A score between 0-3 is very low.
Q: What is the interpretation of a score between 4-6 on the Apgar scale?
A: A score between 4-6 is moderately low.
Q: What is the interpretation of a score between 7-10 on the Apgar scale?
A: A score between 7-10 means the baby is in a good state.
Q: What is one of the most common acute surgical problems facing children?
A: Appendicitis is one of the most common acute surgical problems facing children.
Q: What is the classical presentation of appendicitis in children?
A: The classical presentation includes central abdominal pain which later radiates to the right iliac fossa, low-grade pyrexia, and minimal vomiting.
Q: How do younger children or those with a retrocaecal/pelvic appendix present differently with appendicitis?
A: Younger children or those with a retrocaecal/pelvic appendix are more likely to present in an atypical way.
Q: What SpO2 level in children is considered consistent with a severe asthma attack?
A: SpO2 < 92% is consistent with a severe asthma attack in children.
Q: What is the PEF range for a severe asthma attack in children?
A: PEF is 33-50% of the best or predicted in a severe asthma attack.
Q: What are the symptoms indicating severe breathlessness in children with asthma?
A: Being too breathless to talk or feed.
Q: What is the heart rate for a severe asthma attack in a child over 5 years old?
A: A heart rate > 125 beats per minute is considered severe for children > 5 years.
Q: What heart rate is considered severe for children aged 1-5 years during an asthma attack?
A: A heart rate > 140 beats per minute is considered severe for children aged 1-5 years.
Q: What respiratory rate is considered severe for children older than 5 years during an asthma attack?
A: A respiratory rate > 30 breaths per minute is considered severe for children > 5 years.
Q: What respiratory rate is considered severe for children aged 1-5 years during an asthma attack?
A: A respiratory rate > 40 breaths per minute is considered severe for children aged 1-5 years.
Q: What signs indicate the use of accessory neck muscles in a severe asthma attack in children?
A: The use of accessory neck muscles is a sign of a severe asthma attack.
Q: What SpO2 level is considered life-threatening in a child with an asthma attack?
A: SpO2 < 92% is life-threatening in an asthma attack.
Q: What is the PEF for a life-threatening asthma attack in children?
A: PEF < 33% of the best or predicted is life-threatening.
Q: What physical sign indicates a life-threatening asthma attack in children?
A: A silent chest is a sign of a life-threatening asthma attack.
Q: What other signs may indicate a life-threatening asthma attack in children?
A: Poor respiratory effort, agitation, altered consciousness, and cyanosis.
Q: What should be done for children with severe or life-threatening asthma?
A: Children with severe or life-threatening asthma should be transferred immediately to the hospital.
Q: What is the first-line treatment for children with mild to moderate acute asthma?
A: Bronchodilator therapy: give a beta-2 agonist via a spacer (for children < 3 years use a close-fitting mask), 1 puff every 30-60 seconds up to a maximum of 10 puffs.
Q: What should be done if symptoms are not controlled with bronchodilator therapy?
A: If symptoms are not controlled, repeat the beta-2 agonist and refer to the hospital.
Q: What steroid therapy should be given to all children with an asthma exacerbation?
A: Steroid therapy should be given for 3-5 days.
Q: What is the usual prednisolone dose for children aged 2-5 years according to BTS guidelines?
A: The usual prednisolone dose for children aged 2-5 years is 20 mg once daily.
Q: What is the usual prednisolone dose for children aged > 5 years according to BTS guidelines?
A: The usual prednisolone dose for children aged > 5 years is 30-40 mg once daily.
Q: What is the key concept in the 2024 NICE, British Thoracic Society, and SIGN guidelines for asthma management in children?
A: The key concept is the use of maintenance and reliever therapy (MART), which involves using an inhaled corticosteroid (ICS)/formoterol combination inhaler for daily maintenance therapy and relief of symptoms as needed.
Q: What is the first step in the management of asthma in children aged 5 to 11?
A: The first step is twice-daily paediatric low-dose inhaled corticosteroid (ICS) + short-acting beta-2 agonist (SABA) as needed.
Q: If asthma symptoms are not controlled on the first step in children aged 5 to 11, what are the two management pathways?
A: The two pathways are the MART pathway and the Conventional pathway.
Q: What should be done if asthma symptoms are still not controlled on the first step in the MART pathway?
A: The next step is to use a paediatric low-dose MART + SABA as needed.
Q: What should be done if asthma symptoms are still not controlled in the MART pathway after the first step?
A: The next step is to use a paediatric moderate-dose MART + SABA as needed.
Q: What should be done if asthma symptoms are still not controlled in the Conventional pathway after the first step?
A: The next step is to add a leukotriene receptor antagonist (LTRA) to twice-daily paediatric low-dose ICS plus SABA as needed, for a trial period of 8 to 12 weeks.
Q: What should be done if asthma symptoms are still not controlled after the trial of LTRA in the Conventional pathway?
A: The next step is to switch to a twice-daily paediatric low-dose ICS/LABA (long-acting beta-2 agonist) combination inhaler plus SABA as needed, with or without a LTRA, depending on the previous trial results.
Q: What should be done if asthma symptoms are still not controlled after switching to ICS/LABA combination inhaler in the Conventional pathway?
A: The next step is to switch to a twice-daily paediatric moderate-dose ICS/LABA combination inhaler plus SABA as needed, with or without a LTRA, depending on the previous trial results.
Q: What should be done if asthma symptoms are still not controlled despite all the above steps in children aged 5 to 11?
A: A referral should be made to a respiratory specialist.
Q: What is the first step in the management of asthma in children under 5?
A: The first step is an 8 to 12-week trial of twice-daily paediatric low-dose ICS as maintenance therapy + SABA as required.
Q: What should be considered after 8 to 12 weeks of ICS treatment in children under 5?
A: Consider stopping ICS and SABA treatment after 8 to 12 weeks if symptoms are resolved, and review symptoms after a further 3 months.
Q: What is the diagnostic criteria for ADHD in children under 16?
A: For children up to the age of 16 years, six features of inattention and/or hyperactivity/impulsivity must be present.
Q: What is the diagnostic criteria for ADHD in individuals aged 17 and over?
A: For individuals aged 17 or over, five features of inattention and/or hyperactivity/impulsivity must be present.
Q: What is the management approach recommended by NICE for ADHD?
A: NICE recommends a holistic approach, including a ten-week ‘watch and wait’ period, followed by referral to secondary care if symptoms persist.
Q: What are the primary diagnostic features of inattention in ADHD?
A: Features include not following through on instructions, reluctance to engage in mentally-intense tasks, being easily distracted, difficulty sustaining tasks, and often being forgetful in daily activities.
Q: What are the primary diagnostic features of hyperactivity/impulsivity in ADHD?
A: Features include being unable to play quietly, talking excessively, not waiting their turn easily, leaving their seat when expected to sit, and interrupting or intruding on others.
Q: When is drug therapy considered in the management of ADHD?
A: Drug therapy is considered a last resort and is only available for children aged 5 years or more, typically after a period of observation and if symptoms persist.
Q: What is the first-line pharmacotherapy for ADHD in children?
A: Methylphenidate is the first-line pharmacotherapy for ADHD in children, initially given on a six-week trial basis.
Q: What are the side effects of methylphenidate in children?
A: Side effects of methylphenidate include abdominal pain, nausea, and dyspepsia. Weight and height should be monitored every 6 months in children.
Q: What should be done if a child does not respond to methylphenidate?
A: If there is inadequate response to methylphenidate, the treatment should be switched to lisdexamfetamine.
Q: What is the recommended treatment for adults with ADHD?
A: Methylphenidate or lisdexamfetamine are first-line options for adults. If no benefit is seen, a switch between these drugs is recommended.
Q: What should be done before starting pharmacotherapy for ADHD?
A: A baseline ECG should be performed before starting treatment, and a cardiologist should be consulted if there is a significant past medical or family history, or if there is any doubt.
Q: What are the clinical features of ASD?
A: Clinical features include impaired social communication and interaction, such as playing alone and difficulty with nonverbal cues, and repetitive behaviours, interests, and activities, like stereotyped motor mannerisms and rigid routines.
Q: What are some common comorbidities associated with ASD?
A: Common comorbidities include Attention Deficit Hyperactivity Disorder (35%) and epilepsy (18%).
Q: What physical characteristic is associated with ASD?
A: ASD is associated with a higher head circumference to brain volume ratio.
Q: What is the goal of treatment for Autism Spectrum Disorder (ASD)?
A: The goal is to increase functional independence and quality of life, focusing on learning and development, social skills, communication, and reducing disability and comorbidity.
Q: What are the key components of non-pharmacological therapy for ASD?
A: Non-pharmacological therapy includes early educational and behavioural interventions such as Applied Behavioural Analysis (ABA), TEACCH, ESDM, and JASPER.
Q: What are the pharmacologic interventions used for ASD?
A: Pharmacologic interventions include SSRIs (for repetitive behaviour, anxiety, and aggression), antipsychotics (for aggression and self-injury), and methylphenidate (for ADHD).
Q: How should family support and counselling be integrated into ASD management?
A: Family support and counselling should focus on parental education regarding interaction with the child and acceptance of the child’s behaviour.
Q: What is Benign Rolandic Epilepsy?
A: Benign Rolandic Epilepsy is a form of childhood epilepsy that typically occurs between the ages of 4 and 12 years.
Q: When do seizures typically occur in Benign Rolandic Epilepsy?
A: Seizures characteristically occur at night.
Q: What type of seizures are seen in Benign Rolandic Epilepsy?
A: Seizures are typically partial (e.g., paraesthesia affecting the face), but secondary generalisation may occur, with tonic-clonic movements.
Q: How does the child appear between seizures in Benign Rolandic Epilepsy?
A: The child is otherwise normal.
Q: What is seen on an EEG in Benign Rolandic Epilepsy?
A: The EEG characteristically shows centrotemporal spikes.
Q: What is the prognosis for a child with Benign Rolandic Epilepsy?
A: The prognosis is excellent, with seizures typically stopping by adolescence.
Q: What is biliary atresia?
A: Biliary atresia is a pediatric condition involving the obliteration or discontinuity within the extrahepatic biliary system, causing obstruction in bile flow, leading to neonatal cholestasis.
Q: What is the epidemiology of biliary atresia?
A: Biliary atresia occurs in 1 in every 10,000-15,000 live births and is more common in females than males. It is unique to neonatal children, with perinatal form presenting in the first two weeks and postnatal form within 2-8 weeks.
Q: What are the types of biliary atresia?
Type 1: Proximal ducts patent, but common duct obliterated.
Type 2: Atresia of the cystic duct and cystic structures in the porta hepatis.
Type 3: Atresia of the left and right ducts to the level of the porta hepatis, occurring in >90% of cases.
Q: What are the clinical features of biliary atresia?
A: Symptoms include jaundice extending beyond the physiological two weeks, dark urine, pale stools, and abnormal growth, although appetite may be normal.
Q: What are the signs of biliary atresia?
A: Jaundice, hepatomegaly with splenomegaly, abnormal growth, and cardiac murmurs (if associated cardiac abnormalities are present).
Q: What are some investigations for biliary atresia?
A: Serum bilirubin (high conjugated bilirubin), liver function tests, serum alpha 1-antitrypsin, sweat chloride test, ultrasound of the biliary tree, and percutaneous liver biopsy with intraoperative cholangioscopy.
Q: What is the definitive treatment for biliary atresia?
A: Surgical intervention, such as dissection of abnormalities and creation of anastomosis, is the only definitive treatment.
Q: What are some complications of biliary atresia?
A: Unsuccessful anastomosis, progressive liver disease, cirrhosis, and eventual hepatocellular carcinoma.
Q: What is the prognosis for biliary atresia?
A: The prognosis is good if surgery is successful. If surgery fails, liver transplantation may be required within the first two years of life.
Q: What is bronchiolitis?
A: Bronchiolitis is a condition characterized by acute bronchiolar inflammation, commonly caused by respiratory syncytial virus (RSV) in 75-80% of cases.
Q: What is the epidemiology of bronchiolitis?
A: Bronchiolitis is the most common cause of serious lower respiratory tract infection in infants under 1 year old, with 90% of cases occurring in infants aged 1-9 months, peaking at 3-6 months. The incidence is higher in winter.
Q: What are the common causes of bronchiolitis?
A: RSV is the pathogen in 75-80% of cases. Other causes include mycoplasma, adenoviruses, and secondary bacterial infections.
Q: What makes bronchiolitis more serious?
A: It is more serious in children with bronchopulmonary dysplasia, congenital heart disease, or cystic fibrosis.
Q: When should a child with bronchiolitis be immediately referred to the hospital?
A: Immediate referral is necessary if the child has apnoea, appears seriously unwell, shows severe respiratory distress (e.g., grunting, marked chest recession, respiratory rate >70), has central cyanosis, or oxygen saturation is persistently <92%.
Q: What are the features of bronchiolitis?
A: Initial coryzal symptoms (mild fever), followed by dry cough, increasing breathlessness, wheezing, fine inspiratory crackles, and feeding difficulties due to dyspnoea.
Q: When should clinicians consider referring a child with bronchiolitis to the hospital?
A: Consider referral if the respiratory rate is >60 breaths/minute, the child has difficulty breastfeeding or inadequate oral intake (50-75% of usual volume), or there is clinical dehydration.
Q: How is bronchiolitis investigated?
A: Immunofluorescence of nasopharyngeal secretions can detect RSV.
Q: What is the management for bronchiolitis?
A: Management is supportive, including humidified oxygen for oxygen saturation <92%, nasogastric feeding if oral intake is insufficient, and suction for excessive upper airway secretions.
Q: What is caput succedaneum?
A: Caput succedaneum is oedema of the scalp at the presenting part of the head, typically the vertex, often due to mechanical trauma during delivery or use of ventouse (vacuum) delivery.
Q: What are the features of caput succedaneum?
A: It presents as a soft, puffy swelling due to localized oedema that crosses the suture lines.
Q: What is the treatment for caput succedaneum?
A: No treatment is needed as it typically resolves on its own.
Q: How does caput succedaneum differ from cephalohaematoma?
A: Unlike caput succedaneum, cephalohaematoma is a collection of blood beneath the periosteum and does not cross suture lines.
Q: What is a cephalohaematoma?
A: A cephalohaematoma is a swelling on the newborn’s head due to bleeding between the periosteum and skull, typically developing several hours after delivery.
Q: What is the most common site affected by cephalohaematoma?
A: The most common site affected is the parietal region of the skull.
Q: What complication may arise from a cephalohaematoma?
A: Jaundice may develop as a complication due to the breakdown of blood.
Q: What is cerebral palsy?
A: Cerebral palsy is a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain.
Q: How long does a cephalohaematoma take to resolve?
A: A cephalohaematoma can take up to 3 months to resolve.
Q: What are the antenatal causes of cerebral palsy?
A: Antenatal causes include cerebral malformation and congenital infections such as rubella, toxoplasmosis, and CMV.
Q: What are the intrapartum causes of cerebral palsy?
A: Intrapartum causes include birth asphyxia and trauma.
Q: What are the postnatal causes of cerebral palsy?
A: Postnatal causes include intraventricular haemorrhage, meningitis, and head trauma.
Q: What are some possible manifestations of cerebral palsy?
A: Possible manifestations include abnormal tone early in infancy, delayed motor milestones, abnormal gait, and feeding difficulties.
Q: What are the subtypes of spastic cerebral palsy?
A: The subtypes include hemiplegia, diplegia, and quadriplegia, which involve increased tone resulting from damage to upper motor neurons.
Q: What are some non-motor problems associated with cerebral palsy?
A: Non-motor problems can include learning difficulties (60%), epilepsy (30%), squints (30%), and hearing impairment (20%).
Q: What causes dyskinetic cerebral palsy?
A: Dyskinetic cerebral palsy is caused by damage to the basal ganglia and the substantia nigra, leading to athetoid movements and oro-motor problems.
Q: What causes ataxic cerebral palsy?
A: Ataxic cerebral palsy is caused by damage to the cerebellum, resulting in typical cerebellar signs.
Q: What is the management approach for cerebral palsy?
A: A multidisciplinary approach is needed, with treatments for spasticity including oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery, and selective dorsal rhizotomy. Anticonvulsants and analgesia may also be required.
Q: When is a person with chickenpox infectious?
A: A person with chickenpox is infectious 4 days before the rash appears, until 5 days after the rash first appeared.
Q: How is chickenpox transmitted?
A: Chickenpox is highly infectious and spreads via the respiratory route. It can also be caught from someone with shingles.
Q: What causes chickenpox?
A: Chickenpox is caused by primary infection with varicella zoster virus.
Q: What is shingles?
A: Shingles is a reactivation of the dormant varicella zoster virus in the dorsal root ganglion.
Q: What are the common clinical features of chickenpox?
A: Chickenpox often presents with fever, an itchy rash that starts on the head/trunk before spreading, initially macular, then papular, and then vesicular. Systemic upset is usually mild.
Q: What is the management for chickenpox?
A: Management is supportive, including keeping the child cool, trimming nails, and using calamine lotion.
Q: What is a common complication of chickenpox?
A: A common complication is secondary bacterial infection of the lesions, which may be exacerbated by NSAIDs.
Q: What rare complications can occur with chickenpox?
A: Rare complications include pneumonia, encephalitis (especially with cerebellar involvement), disseminated haemorrhagic chickenpox, arthritis, nephritis, and pancreatitis.
Q: What should be given to immunocompromised patients and newborns with peripartum exposure to chickenpox?
A: Immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops, IV aciclovir should be considered.
Q: How long should a child with chickenpox be excluded from school?
A: School exclusion is advised until all lesions are dry and have crusted over, usually about 5 days after the onset of the rash.
Q: What ongoing health surveillance occurs in children?
A: Ongoing health surveillance includes monitoring growth, vision, and hearing, as well as providing advice on immunisations, diet, and accident prevention.
Q: What happens during the first month of child health surveillance?
A: The first month involves the heel-prick test, midwife visits, and health visitor input.
Q: What happens at the GP examination at 6-8 weeks?
A: The GP examination at 6-8 weeks includes an assessment of the child’s development and overall health, alongside routine immunisations.
Q: What is involved in the preschool child health surveillance?
A: The preschool health surveillance includes a national orthoptist-led programme for pre-school vision screening.
Q: What are the main symptoms of mumps?
A: Mumps presents with fever, malaise, muscular pain, and parotitis (earache). Initially, parotitis is unilateral and becomes bilateral in 70% of cases.
Q: What are the features of rubella?
A: Rubella causes a pink maculopapular rash that starts on the face and spreads to the whole body, usually fading by the 3-5 day. It is also associated with suboccipital and postauricular lymphadenopathy.
Q: What are the clinical features of chickenpox?
A: Chickenpox presents with fever initially, followed by an itchy rash starting on the head/trunk and spreading. The rash progresses from macular to papular to vesicular. Systemic upset is usually mild.
Q: What are the key features of measles?
A: Measles starts with a prodrome of irritability, conjunctivitis, and fever. Koplik spots (white spots on buccal mucosa) are seen, followed by a rash that starts behind the ears and spreads to the whole body, initially discrete maculopapular, then becoming blotchy and confluent.
Q: What are the clinical features of scarlet fever?
A: Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci. It presents with fever, malaise, tonsillitis, “strawberry” tongue, and a rash with fine punctate erythema sparing the area around the mouth (circumoral pallor).
Q: What are the symptoms of erythema infectiosum (fifth disease or ‘slapped-cheek syndrome’)?
A: Erythema infectiosum, caused by parvovirus B19, presents with lethargy, fever, headache, and a characteristic “slapped-cheek” rash that spreads to the proximal arms and extensor surfaces.
Q: What are the symptoms of hand, foot, and mouth disease?
A: Hand, foot, and mouth disease, caused by the coxsackie A16 virus, presents with mild systemic upset (sore throat, fever) and vesicles in the mouth and on the palms and soles of the feet.
Q: What are the key features of Patau syndrome (trisomy 13)?
A: Patau syndrome is characterized by microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions.
Q: What are the main features of Edward’s syndrome (trisomy 18)?
A: Edward’s syndrome presents with micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers.
Q: What are the main features of Noonan syndrome?
A: Noonan syndrome is characterized by a webbed neck, pectus excavatum, short stature, and pulmonary stenosis.
Q: What are the key features of Fragile X syndrome?
A: Fragile X syndrome presents with learning difficulties, macrocephaly, long face, large ears, and macro-orchidism.
Q: What are the key features of Pierre-Robin syndrome?
A: Pierre-Robin syndrome involves micrognathia, posterior displacement of the tongue (which may cause upper airway obstruction), and cleft palate.
Q: What are the main features of Prader-Willi syndrome?
A: Prader-Willi syndrome presents with hypotonia, hypogonadism, and obesity.
Q: What are the key features of William’s syndrome?
A: William’s syndrome is characterized by short stature, learning difficulties, a friendly and extrovert personality, transient neonatal hypercalcaemia, and supravalvular aortic stenosis.
Q: Which congenital heart defect is more common in adults, VSD or ASD?
A: Atrial septal defect (ASD) is more commonly diagnosed in adults, as it typically presents later in life compared to ventricular septal defects (VSD).
Q: What are the key features of Cri du chat syndrome (chromosome 5p deletion syndrome)?
A: Cri du chat syndrome presents with a characteristic cry due to larynx and neurological problems, feeding difficulties, poor weight gain, learning difficulties, microcephaly, micrognathism, and hypertelorism.
Q: What is congenital diaphragmatic hernia (CDH) and how common is it?
A: CDH is a condition where abdominal viscera herniate into the chest due to incomplete diaphragm formation. It occurs in around 1 in 2,000 newborns.
Q: Which congenital heart defect is more common at birth, tetralogy of Fallot or transposition of the great arteries (TGA)?
A: At birth, transposition of the great arteries (TGA) is more common, while tetralogy of Fallot typically presents later, around 1-2 months of age.
Q: How is coeliac disease diagnosed?
A: Diagnosis is confirmed by a jejunal biopsy showing subtotal villous atrophy. Anti-endomysial and anti-gliadin antibodies are also useful screening tests.
Q: What are the problems associated with cleft lip and palate?
A: Problems include feeding difficulties (orthodontic devices may help), speech issues (75% of children develop normal speech with speech therapy), and an increased risk of otitis media for cleft palate babies.
Q: What is the typical management for cleft lip and palate?
A: Cleft lip is repaired earlier, typically within the first week to three months of life, and cleft palates are repaired between 6-12 months of age.
Q: What are the most common causes of acyanotic congenital heart disease?
A: The most common causes of acyanotic congenital heart disease are ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis.
Q: What are the most common causes of cyanotic congenital heart disease?
A: The most common causes of cyanotic congenital heart disease are tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia.
Q: What are the characteristic features of rubella in congenital infections?
A: The characteristic features of rubella include sensorineural deafness, congenital cataracts, congenital heart disease (e.g., patent ductus arteriosus), glaucoma, cerebral calcification, chorioretinitis, and hydrocephalus.
Q: What are the characteristic features of toxoplasmosis in congenital infections?
A: The characteristic features of toxoplasmosis include growth retardation, hepatosplenomegaly, purpuric skin lesions, ‘salt and pepper’ chorioretinitis, microphthalmia, cerebral palsy, anaemia, and visual impairment.
Q: Does pulmonary valve stenosis cause cyanosis, and what affects its presence?
A: The presence of cyanosis in pulmonary valve stenosis depends on the severity of the stenosis and any coexisting defects.
Q: What is the pathophysiology of cleft lip and palate?
A: Cleft lip results from failure of the fronto-nasal and maxillary processes to fuse, while cleft palate results from failure of the palatine processes and nasal septum to fuse. It has a polygenic inheritance, and maternal antiepileptic use increases the risk.
Q: What are the typical features of coeliac disease in children?
A: Features may coincide with the introduction of cereals and include failure to thrive, diarrhoea, abdominal distension, and anaemia in older children. Many cases are not diagnosed until adulthood.
Q: What is the prognosis for newborns with congenital diaphragmatic hernia (CDH)?
A: Despite modern medical interventions, only around 50% of newborns with CDH survive.
Q: What are the characteristic features of cytomegalovirus (CMV) in congenital infections?
A: The characteristic features of cytomegalovirus include sensorineural deafness, microcephaly, cerebral palsy, learning disability, encephalitis/seizures, pneumonitis, hepatosplenomegaly, anaemia, jaundice, and cerebral palsy.
Q: Which is the most common congenital infection in the UK?
A: Cytomegalovirus (CMV) is the most common congenital infection in the UK.
Q: What are the Fraser Guidelines for providing contraceptives to patients under 16 years old?
A: The Fraser Guidelines state that contraceptive treatment can be provided to those under 16 if: they understand the advice, cannot be persuaded to inform their parents, are likely to have sexual intercourse, their health may suffer without treatment, and their best interests require contraceptive advice or treatment.
Q: How is maternal infection typically characterized in cytomegalovirus?
A: Maternal infection with cytomegalovirus is usually asymptomatic.
Q: What is the legal age for a child to give consent to treatment?
A: Children under 16 years can consent to treatment if deemed competent (e.g., under Fraser guidelines), but they cannot refuse treatment deemed in their best interest. Between 16-18 years, competence is presumed. Children over 18 years can consent or refuse treatment.
Q: What is the frequency of bowel movements considered a sign of constipation in children under 1 year old?
A: Fewer than 3 complete stools per week (type 3 or 4 on the Bristol Stool Form Scale), except for exclusively breastfed babies after 6 weeks of age.
Q: What should be considered when diagnosing constipation in children?
A: Exclude secondary causes, such as neurological problems, abdominal distension, and faltering growth. Idiopathic constipation can be diagnosed if no red or amber flags are present.
Q: What are some common causes of constipation in children?
A: Dehydration, low-fibre diet, medications (e.g., opiates), anal fissure, over-enthusiastic potty training, hypothyroidism, Hirschsprung’s disease, hypercalcaemia, learning disabilities.
Q: What are the first-line treatments for faecal impaction in children?
A: Polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain), with an escalating dose regimen. If no disimpaction after 2 weeks, add a stimulant laxative.
Q: What should be included in maintenance therapy for constipation in children?
A: Movicol Paediatric Plain as first-line; if no response, add a stimulant laxative. If not tolerated, substitute with another laxative (e.g., lactulose or docusate) and continue for several weeks after regular bowel habits are established.
Q: What management strategies should be considered for young infants (under 6 months) with constipation?
A: For bottle-fed infants, offer extra water between feeds and try gentle abdominal massage. For breast-fed infants, constipation is unusual, and organic causes should be considered.
Q: What additional interventions can help in managing constipation in weaned infants?
A: Offer extra water, diluted fruit juice, fruits, and if not effective, consider adding lactulose.
Q: When does cow’s milk protein intolerance/allergy typically present in infants?
A: In the first 3 months of life, especially in formula-fed infants.
Q: What are common features of cow’s milk protein intolerance/allergy in infants?
A: Regurgitation, vomiting, diarrhoea, urticaria, atopic eczema, irritability, crying (colic), wheeze, chronic cough, and in rare cases, angioedema and anaphylaxis.
Q: What formula should be used for infants with severe cow’s milk protein allergy (CMPA) or those who do not respond to eHF?
A: Amino acid-based formula (AAF).
Q: What are the main diagnostic methods for cow’s milk protein intolerance/allergy?
A: Clinical improvement with elimination of cow’s milk protein, skin prick/patch testing, total IgE, and specific IgE (RAST) for cow’s milk protein.
Q: What is the first-line formula replacement for formula-fed infants with mild-moderate symptoms of CMPI/CMPA?
A: Extensive hydrolysed formula (eHF).
Q: How should a breastfeeding mother manage cow’s milk protein intolerance/allergy in their baby?
A: Continue breastfeeding while eliminating cow’s milk protein from the maternal diet. Calcium supplements may be prescribed to prevent deficiency.
Q: What is the approach for testing tolerance to milk in children with cow’s milk protein intolerance/allergy?
A: A challenge is often performed in a hospital setting due to the risk of anaphylaxis.
Q: What is the typical prognosis for children with cow’s milk protein intolerance/allergy?
A: Most children resolve CMPI, with around 55% of children with IgE mediated intolerance becoming milk-tolerant by age 5, and most children with non-IgE mediated intolerance becoming milk-tolerant by age 3.
Q: When is croup more commonly seen?
A: Croup is more common in the autumn.
Q: What is croup and what causes it?
A: Croup is an upper respiratory tract infection seen in infants and toddlers, characterised by stridor caused by laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases.
Q: At what age is croup most common?
A: Peak incidence occurs between 6 months and 3 years.
Q: Why should the throat not be examined in a child with croup?
A: Examining the throat may precipitate airway obstruction.
Q: What are the characteristic features of croup?
A: Barking, seal-like cough, worse at night, stridor, fever, coryzal symptoms, increased work of breathing (e.g. retraction).
Q: When should a child with croup be admitted to hospital?
A: Any child with moderate or severe croup, those <3 months of age, with known upper airway abnormalities, or if there is uncertainty about the diagnosis.
Q: How is the severity of croup graded?
Mild: Occasional barking cough, no audible stridor at rest, no or mild retraction, happy child.
Moderate: Frequent barking cough, audible stridor at rest, mild retraction, placatable child.
Severe: Frequent barking cough, prominent stridor, marked retractions, significant distress, tachycardia.
Q: What are the differential diagnoses to consider in a child with croup?
A: Acute epiglottitis, bacterial tracheitis, peritonsillar abscess, and foreign body inhalation.
Q: What signs may be seen on a chest x-ray in a child with croup?
A: A posterior-anterior view will show subglottic narrowing, known as the ‘steeple sign’.
Q: What is the recommended first-line management for croup?
A: A single dose of oral dexamethasone (0.15 mg/kg) to all children, regardless of severity.
Q: What are the emergency treatments for severe croup?
A: High-flow oxygen and nebulised adrenaline.
Q: What is the difference between peripheral and central cyanosis in the neonatal period?
A: Peripheral cyanosis, such as on the hands and feet, is common in the first 24 hours of life and may occur when the baby is crying or unwell. Central cyanosis occurs when the concentration of reduced haemoglobin exceeds 5g/dl.
Q: When may peripheral cyanosis be observed in neonates?
A: Peripheral cyanosis is very common in the first 24 hours of life, especially when the baby is crying or unwell.
Q: How can central cyanosis be clinically recognised in neonates?
A: Central cyanosis is recognised when the concentration of reduced haemoglobin in the blood exceeds 5g/dl.
Q: What is the nitrogen washout test (hyperoxia test), and how does it help in diagnosing cyanosis?
A: The nitrogen washout test involves giving 100% oxygen for 10 minutes and then measuring arterial blood gases. A pO2 of less than 15 kPa indicates cyanotic congenital heart disease.
Q: What are the causes of cyanotic congenital heart disease in neonates?
A: Causes include tetralogy of Fallot (TOF), transposition of the great arteries (TGA), and tricuspid atresia.
Q: What is the initial management for suspected cyanotic congenital heart disease in neonates?
A: Initial management includes supportive care and the administration of prostaglandin E1 (e.g., alprostadil) to maintain a patent ductus arteriosus in ductal-dependent congenital heart defects.
Q: What is acrocyanosis and when is it commonly seen in neonates?
A: Acrocyanosis refers to cyanosis around the mouth and extremities, seen in healthy newborns. It is common and may persist for 24 to 48 hours after birth.
Q: How can acrocyanosis be differentiated from other causes of peripheral cyanosis in neonates?
A: Acrocyanosis occurs immediately after birth in healthy infants and is not associated with significant pathology. It typically resolves within 24 to 48 hours.
Q: What is cystic fibrosis and what causes it?
A: Cystic fibrosis (CF) is an autosomal recessive disorder caused by a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to increased viscosity of secretions, affecting organs like the lungs and pancreas.
Q: What is the most common genetic mutation in cystic fibrosis in the UK?
A: In the UK, 80% of cystic fibrosis cases are due to the delta F508 mutation on the long arm of chromosome 7.
Q: What organisms are commonly found in patients with cystic fibrosis?
A: Common organisms that colonise CF patients include Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus.
Q: What are some causes of a false positive sweat test?
A: Causes of a false positive sweat test include malnutrition, adrenal insufficiency, glycogen storage diseases, nephrogenic diabetes insipidus, hypothyroidism, hypoparathyroidism, G6PD deficiency, and ectodermal dysplasia.
Q: What is the sweat test used for in diagnosing cystic fibrosis?
A: The sweat test measures sweat chloride levels; patients with cystic fibrosis have abnormally high sweat chloride. A normal value is < 40 mEq/l, and CF is indicated by a value > 60 mEq/l.
Q: What is the most common reason for a false negative sweat test?
A: The most common reason for a false negative sweat test is skin oedema, often due to hypoalbuminaemia or hypoproteinaemia secondary to pancreatic exocrine insufficiency.
Q: What are the common presenting features of cystic fibrosis in the neonatal period?
A: Common presenting features in the neonatal period include meconium ileus (around 20%) and, less commonly, prolonged jaundice.
Q: What are common presenting features of cystic fibrosis in early childhood?
A: Recurrent chest infections (40%), malabsorption with steatorrhoea and failure to thrive (30%), and liver disease (10%) are common presenting features.
Q: What is a key part of the daily management for cystic fibrosis?
A: Regular chest physiotherapy and postural drainage, at least twice daily, along with deep breathing exercises.
Q: Where are dermoid cysts most commonly located?
A: Common locations include the midline of the neck, external angle of the eye, and posterior to the pinna of the ear.
Q: What supplements should cystic fibrosis patients take?
A: Vitamin supplementation and pancreatic enzyme supplements with meals.
Q: What are some other features of cystic fibrosis?
A: Other features include short stature, diabetes mellitus, delayed puberty, rectal prolapse, nasal polyps, male infertility, and female subfertility.
Q: What other sites may dermoid cysts develop in, aside from the skin?
A: Dermoid cysts can also develop in the ovary, where they are considered teratomas.
Q: What is a dermoid cyst?
A: A cutaneous dermoid cyst develops at sites of embryonic developmental fusion, often found in the midline of the neck, external angle of the eye, and posterior to the ear, containing inclusions like hair follicles.
Q: What dietary recommendation is given to patients with cystic fibrosis?
A: A high-calorie diet, including high fat intake, is recommended.
Q: What is a contraindication for lung transplantation in cystic fibrosis patients?
A: Chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation.
What drugs can you use in CF
Lumacaftor/Ivacaftor
Q: Why should cystic fibrosis patients minimize contact with each other?
A: To prevent cross-infection with Burkholderia cepacia complex and Pseudomonas aeruginosa.
Q: What is the key feature of dermoid cysts?
A: Dermoid cysts typically have multiple inclusions, such as hair follicles, that bud out from their walls.
Q: What is a desmoid tumour?
A: A desmoid tumour is a type of fibrous tumour, either classified as low-grade fibrosarcoma or non-aggressive fibrous tumour, often presenting as large, infiltrative masses.
Q: How are desmoid tumours categorized?
A: Desmoid tumours are categorized into abdominal, extra-abdominal, and intra-abdominal types, based on their location.
Q: What does developmental delay refer to?
A: Developmental delay refers to a significant lag in a child’s physical, cognitive, behavioural, emotional, or social development relative to established growth milestones.
Q: What is an example referral point for developmental delay in a child?
A: Examples include not smiling at 10 weeks, not sitting unsupported at 12 months, or not walking at 18 months.
Q: What does hand preference before 12 months potentially indicate?
A: Hand preference before 12 months may indicate cerebral palsy.
Q: What are the most common causes of gross motor problems in children?
A: Common causes include variations of normal development, cerebral palsy, and neuromuscular disorders like Duchenne muscular dystrophy.
Q: What should be checked if a child has speech and language problems?
A: Hearing should always be checked, along with considering other causes such as environmental deprivation or general developmental delay.
Q: What are some common differential diagnoses for developmental delay?
A: Differential diagnoses include Autism Spectrum Disorder (ASD), cerebral palsy, Fragile X syndrome, Down syndrome, and fetal alcohol spectrum disorders (FASDs).
Q: What is the initial management approach for a child with suspected developmental delay?
A: The initial management involves a clinical examination, investigations (genetic testing, neuroimaging, hearing/vision assessments), referrals for specialist assessments, and early intervention services.
Q: What is developmental dysplasia of the hip (DDH)?
A: DDH is a condition where the hip joint does not develop properly, and is gradually replacing the term ‘congenital dislocation of the hip’ (CDH). It affects around 1-3% of newborns.
Q: What are the risk factors for DDH?
A: Risk factors include female sex, breech presentation, positive family history, firstborn children, oligohydramnios, birth weight > 5 kg, and congenital calcaneovalgus foot deformity.
Q: Is DDH more common in one hip?
A: DDH is slightly more common in the left hip, and around 20% of cases are bilateral.
Q: Which infants require a routine ultrasound examination for DDH?
A: Infants with a first-degree family history of hip problems, breech presentation at or after 36 weeks gestation, or multiple pregnancies require routine ultrasound examination.
Q: How are DDH cases screened in infants?
A: DDH is screened using the Barlow and Ortolani tests at the newborn check and six-week baby check.
Q: What does the Barlow test assess in DDH?
A: The Barlow test attempts to dislocate an articulated femoral head.
Q: What does the Ortolani test assess in DDH?
A: The Ortolani test attempts to relocate a dislocated femoral head.
Q: What factors are important in clinical examination for DDH?
A: Important factors include symmetry of leg length, the level of knees when hips and knees are flexed, and restricted abduction of the hip in flexion.
Q: What is the first-line imaging for DDH in infants under 4.5 months old?
A: Ultrasound is generally used to confirm the diagnosis if DDH is clinically suspected.
Q: What is the first-line imaging for DDH in infants over 4.5 months old?
A: X-ray is the first-line investigation in infants older than 4.5 months.
Q: What is the management for most unstable hips in DDH?
A: Most unstable hips will spontaneously stabilize by 3-6 weeks of age.
Q: What is the treatment for DDH in children younger than 4-5 months?
A: The Pavlik harness (a dynamic flexion-abduction orthosis) is used for children younger than 4-5 months.
Q: What is the treatment for DDH in older children?
A: Older children may require surgery for DDH management.
Q: What fine motor milestone is expected at 3 months?
A: At 3 months, the infant reaches for objects, holds a rattle briefly if given to hand, and is visually alert, particularly to human faces. They can fixate and follow objects to 180 degrees.
Q: What fine motor milestone is expected at 6 months?
A: At 6 months, the infant holds objects in a palmar grasp, passes objects from one hand to another, and is visually insatiable, looking around in all directions.
Q: What fine motor milestone is expected at 9 months?
A: At 9 months, the infant points with their finger and demonstrates an early pincer grip.
Q: What is the expected tower building milestone for an 18-month-old?
A: At 18 months, the child is expected to build a tower of 3 blocks.
Q: What fine motor milestone is expected at 12 months?
A: At 12 months, the infant has a good pincer grip and can bang toys together.
Q: What is the expected tower building milestone for a 15-month-old?
A: At 15 months, the child is expected to build a tower of 2 blocks.
Q: What is the expected tower building milestone for a 2-year-old?
A: At 2 years, the child is expected to build a tower of 6 blocks.
Q: What is the expected tower building milestone for a 3-year-old?
A: At 3 years, the child is expected to build a tower of 9 blocks.
Q: What drawing milestone is expected at 2 years?
A: At 2 years, the child is expected to copy a vertical line.
Q: What drawing milestone is expected at 18 months?
A: At 18 months, the child is expected to make a circular scribble.
Q: What drawing milestone is expected at 3 years?
A: At 3 years, the child is expected to copy a circle.
Q: What drawing milestone is expected at 4 years?
A: At 4 years, the child is expected to copy a cross.
Q: What drawing milestone is expected at 5 years?
A: At 5 years, the child is expected to copy a square and triangle.
Q: What book milestone is expected at 15 months?
A: At 15 months, the child looks at a book and pats the page.
Q: What book milestone is expected at 18 months?
A: At 18 months, the child turns pages, several at a time.
Q: What book milestone is expected at 2 years?
A: At 2 years, the child turns pages, one at a time.
Q: What is considered abnormal in hand preference before 12 months?
Q: What is considered abnormal in hand preference before 12 months?
Q: What gross motor milestone is expected at 3 months?
A: At 3 months, there is little or no head lag when being pulled to sit, and the infant has good head control when lying on their abdomen.
Q: What gross motor milestone is expected at 6 months?
A: At 6 months, the infant lies on their abdomen with arms extended, lies on their back and lifts and grasps their feet, pulls themselves to sitting, and has a straight back when held in sitting. The infant also rolls from front to back.
Q: What gross motor milestone is expected at 7-8 months?
A: At 7-8 months, the infant sits without support. (Referral is required at 12 months if not achieved.)
Q: What gross motor milestone is expected at 9 months?
A: At 9 months, the infant pulls to standing and begins crawling.
Q: What gross motor milestone is expected at 12 months?
A: At 12 months, the infant cruises (walks while holding onto furniture) and walks with one hand held.
Q: What gross motor milestone is expected at 13-15 months?
A: At 13-15 months, the infant walks unsupported (Referral is required at 18 months if not achieved).
Q: What gross motor milestone is expected at 18 months?
A: At 18 months, the child squats to pick up a toy.
Q: What gross motor milestone is expected at 2 years?
A: At 2 years, the child runs and walks upstairs and downstairs while holding onto the rail.
Q: What gross motor milestone is expected at 3 years?
A: At 3 years, the child rides a tricycle using pedals and walks up stairs without holding onto the rail.
Q: What gross motor milestone is expected at 4 years?
A: At 4 years, the child hops on one leg.
Q: What is considered a normal variant in crawling before walking?
A: While most children crawl on all fours before walking, some children may ‘bottom-shuffle,’ which is a normal variant that runs in families.
Q: What social milestone is expected at 6 weeks?
A: At 6 weeks, the infant smiles. (Referral is required at 10 weeks if not achieved.)
Q: What social milestone is expected at 3 months?
A: At 3 months, the infant laughs and enjoys friendly handling.
Q: What social milestone is expected at 6 months?
A: At 6 months, the infant is not shy.
Q: What social milestone is expected at 9 months?
A: At 9 months, the infant becomes shy and takes everything to their mouth.
Q: What feeding milestone is expected at 6 months?
A: At 6 months, the infant may put their hand on the bottle when being fed.
Q: What feeding milestone is expected between 12-15 months?
A: Between 12-15 months, the child drinks from a cup and uses a spoon, developing these skills over the next 3 months.
Q: What feeding milestone is expected at 2 years?
A: At 2 years, the child becomes competent with a spoon and does not spill when using a cup.
Q: What feeding milestone is expected at 3 years?
A: At 3 years, the child uses both a spoon and fork.
Q: What feeding milestone is expected at 5 years?
A: At 5 years, the child uses a knife and fork.
Q: What dressing milestone is expected between 12-15 months?
A: Between 12-15 months, the child helps with getting dressed or undressed.
Q: What dressing milestone is expected at 18 months?
A: At 18 months, the child can take off their shoes and hat but is unable to replace them.
Q: What dressing milestone is expected at 2 years?
A: At 2 years, the child can put on a hat and shoes.
Q: What dressing milestone is expected at 4 years?
A: At 4 years, the child can dress and undress independently, except for laces and buttons.
Q: What play milestone is expected at 9 months?
A: At 9 months, the infant plays ‘peek-a-boo.’
Q: What play milestone is expected at 12 months?
A: At 12 months, the infant waves ‘bye-bye’ and plays ‘pat-a-cake.’
Q: What play milestone is expected at 18 months?
A: At 18 months, the child plays contentedly alone.
Q: What play milestone is expected at 2 years?
A: At 2 years, the child plays near others, but not yet with them.
Q: What play milestone is expected at 4 years?
A: At 4 years, the child plays with other children.
Q: What speech and hearing milestone is expected at 3 months?
A: At 3 months, the infant quietens to their parent’s voice, turns towards sound, and squeals.
Q: What speech and hearing milestone is expected at 6 months?
A: At 6 months, the infant says double syllables like ‘adah’ and ‘erleh.’
Q: What speech and hearing milestone is expected at 9 months?
A: At 9 months, the infant says ‘mama’ and ‘dada’ and understands ‘no.’
Q: What speech and hearing milestone is expected at 12 months?
A: At 12 months, the child knows and responds to their own name.
Q: What speech and hearing milestone is expected between 12-15 months?
A: Between 12-15 months, the child knows about 2-6 words and understands simple commands like ‘give it to mummy.’ (Referral is needed at 18 months.)
Q: What speech and hearing milestone is expected at 2 years?
A: At 2 years, the child combines two words and points to parts of the body.
Q: What speech and hearing milestone is expected at 2½ years?
A: At 2½ years, the child has a vocabulary of about 200 words.
Q: What speech and hearing milestone is expected at 3 years?
A: At 3 years, the child talks in short sentences (3-5 words), asks ‘what’ and ‘who’ questions, identifies colours, and counts to 10 with little appreciation of numbers.
Q: What speech and hearing milestone is expected at 4 years?
A: At 4 years, the child asks ‘why’, ‘when’, and ‘how’ questions.
Q: What is the most common cause of gastroenteritis in children in the UK?
A: The most common cause of gastroenteritis in children in the UK is rotavirus.
Q: What is the typical duration of diarrhoea and vomiting in children?
A: Diarrhoea usually lasts for 5-7 days and stops within 2 weeks. Vomiting usually lasts for 1-2 days and stops within 3 days.
Q: What are the clinical features of dehydration in children?
A: Clinical dehydration features include sunken eyes, dry mucous membranes, tachycardia, tachypnoea, normal peripheral pulses, normal capillary refill time, and reduced skin turgor.
Q: What are the clinical features of shock in children?
A: Clinical shock features include decreased level of consciousness, cold extremities, pale or mottled skin, tachycardia, tachypnoea, weak peripheral pulses, prolonged capillary refill time, and hypotension.
Q: Which children are at increased risk of dehydration?
A: Children at increased risk of dehydration include those younger than 1 year (especially those under 6 months), low birth weight infants, those who have passed six or more diarrhoeal stools in 24 hours, those who have vomited three or more times, and those who haven’t been offered or tolerated fluids.
Q: What features suggest hypernatraemic dehydration in children?
A: Features of hypernatraemic dehydration include jittery movements, increased muscle tone, hyperreflexia, convulsions, drowsiness, or coma.
Q: When should a stool culture be performed in children with diarrhoea and vomiting?
A: Stool culture should be done if you suspect septicaemia, there is blood/mucus in the stool, or if the child is immunocompromised. Consider it if the child has recently been abroad, diarrhoea hasn’t improved by day 7, or there is diagnostic uncertainty.
Q: What is the management for children with no evidence of dehydration?
A: For children with no dehydration, continue breastfeeding, encourage fluid intake, and discourage fruit juices and carbonated drinks.
Q: What is the management for children with suspected dehydration?
A: For suspected dehydration, give 50 ml/kg of low osmolarity oral rehydration solution (ORS) over 4 hours, continue breastfeeding, and supplement with usual fluids, avoiding fruit juices and carbonated drinks.
Q: What is the most common cause of chronic diarrhoea in infants in the developed world?
A: The most common cause is cows’ milk intolerance.
Q: What is toddler diarrhoea?
A: Toddler diarrhoea is characterised by stools that vary in consistency and often contain undigested food.
Q: What are some causes of chronic diarrhoea in children besides cows’ milk intolerance?
A: Other causes include coeliac disease, post-gastroenteritis lactose intolerance, and toddler diarrhoea.
Q: In primary hypogonadism (Klinefelter’s syndrome), what are the levels of LH and testosterone?
A: LH is high and testosterone is low.
Q: What is the hormonal profile in hypogonadotrophic hypogonadism (Kallman’s syndrome)?
A: Both LH and testosterone are low.
Q: In androgen insensitivity syndrome, what are the levels of LH and testosterone?
A: LH is high, and testosterone is normal or high.
Q: What is the hormonal profile in a testosterone-secreting tumour?
A: LH is low, and testosterone is high.
Q: What are some features of Klinefelter’s syndrome?
A: Features include being taller than average, lack of secondary sexual characteristics, small, firm testes, infertility, gynaecomastia, and elevated gonadotrophin levels.
Q: How is Klinefelter’s syndrome diagnosed?
A: Diagnosis is made by chromosomal analysis (karyotype 47, XXY).
Q: What is a key feature of Kallman’s syndrome?
A: A key feature is anosmia (lack of smell) in a boy with delayed puberty.
Q: What are the common features of Kallman’s syndrome?
A: Features include delayed puberty, hypogonadism, cryptorchidism, anosmia, and inappropriately low/normal LH and FSH levels.
Q: What additional defects may be present in some Kallman’s syndrome patients?
A: Cleft lip/palate and visual/hearing defects.
Q: What is the cause of Androgen Insensitivity Syndrome (AIS)?
A: AIS is due to end-organ resistance to testosterone, resulting in a female phenotype in genotypically male children (46XY).
Q: What are the features of complete androgen insensitivity syndrome?
A: Features include primary amenorrhoea, undescended testes causing groin swellings, and breast development due to the conversion of testosterone to oestradiol.
Q: How is androgen insensitivity syndrome diagnosed?
A: Diagnosis is made via a buccal smear or chromosomal analysis revealing a 46XY genotype.
Q: What is the management of androgen insensitivity syndrome?
A: Management includes counselling to raise the child as female, bilateral orchidectomy, and oestrogen therapy.
Q: What are some facial features of Down’s syndrome?
A: Features include upslanting palpebral fissures, epicanthic folds, Brushfield spots in the iris, protruding tongue, small low-set ears, and a round/flat face.
Q: What are the common physical features of Down’s syndrome?
A: A flat occiput, single palmar crease, and a pronounced ‘sandal gap’ between the big and first toe.
Q: What is a common neurological finding in Down’s syndrome?
A: Hypotonia (low muscle tone).
Q: What are some common congenital anomalies in Down’s syndrome?
A: Congenital heart defects (40-50%), duodenal atresia, and Hirschsprung’s disease.
Q: What is the most common congenital cardiac defect in Down’s syndrome?
A: Endocardial cushion defect (atrioventricular septal canal defects), which occurs in 40% of cases.
Q: What other cardiac defects are seen in Down’s syndrome?
A: Ventricular septal defect (30%), secundum atrial septal defect (10%), tetralogy of Fallot (5%), and isolated patent ductus arteriosus (5%).
Q: What are some later complications of Down’s syndrome?
A: Later complications include subfertility (males are almost always infertile), learning difficulties, short stature, repeated respiratory infections, acute lymphoblastic leukaemia, hypothyroidism, Alzheimer’s disease, and atlantoaxial instability.
Q: What is the impact of Down’s syndrome on fertility?
A: Males with Down’s syndrome are almost always infertile, while females are usually subfertile and have an increased risk of pregnancy and labour complications.
Q: What causes Duchenne muscular dystrophy?
A: Duchenne muscular dystrophy is an X-linked recessive inherited disorder caused by mutations in the dystrophin gene, which is required for normal muscular function.
Q: What is the typical presentation of Duchenne muscular dystrophy?
A: Features include progressive proximal muscle weakness from age 5, calf pseudohypertrophy, and Gower’s sign (using arms to stand up from a squatted position).
Q: What is Gower’s sign?
A: Gower’s sign is when a child uses their arms to help them stand up from a squatted position, which is a sign of muscle weakness seen in Duchenne muscular dystrophy.
Q: What are the main investigations for Duchenne muscular dystrophy?
A: Raised creatine kinase (CK) levels and genetic testing (which has replaced muscle biopsy for definitive diagnosis).
Q: How is Duchenne muscular dystrophy managed?
A: Management is largely supportive, as there is currently no effective treatment available.
Q: What is the prognosis for patients with Duchenne muscular dystrophy?
A: Most children with Duchenne muscular dystrophy cannot walk by age 12 and typically survive until around age 25-30 years. The condition is associated with dilated cardiomyopathy.
Q: What is Ebstein’s anomaly?
A: Ebstein’s anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve, leading to a large atrium and small ventricle, sometimes referred to as ‘atrialisation’ of the right ventricle.
Q: What prenatal factor is associated with Ebstein’s anomaly?
A: Ebstein’s anomaly may be caused by exposure to lithium in utero.
Q: What cardiac defects are commonly associated with Ebstein’s anomaly?
A: At least 80% of patients have a patent foramen ovale (PFO) or atrial septal defect (ASD), which leads to a right-to-left shunt between the atria, and Wolff-Parkinson White syndrome.
Q: What are the clinical features of Ebstein’s anomaly?
A: Features include cyanosis, a prominent ‘a’ wave in the distended jugular venous pulse, hepatomegaly, tricuspid regurgitation, a pansystolic murmur (worse on inspiration), and right bundle branch block (leading to a widely split S1 and S2).
Q: What is the typical age of onset for eczema in children?
A: Eczema typically presents before 2 years of age and may clear in around 50% of children by 5 years and 75% by 10 years.
Q: What are the characteristic features of eczema in children?
A: Features include an itchy, erythematous rash, with repeated scratching exacerbating affected areas. In infants, the face and trunk are often affected, while in younger children, eczema appears on extensor surfaces. In older children, the rash typically affects flexor surfaces and the creases of the face and neck.
What is the management for eczema
A: Management includes avoiding irritants, using simple emollients (in large quantities, e.g., 250g per week), applying emollients before topical steroids, waiting at least 30 minutes before applying topical steroids, and considering wet wrapping for severe cases.
Q: What is the role of topical steroids in the management of eczema?
A: Topical steroids are used in eczema management; they should be applied after emollients, and emollient and steroid use should be carefully timed (at least 30 minutes apart).
Q: What is the diagnostic approach for Fragile X syndrome?
Antenatal diagnosis can be made by chorionic villus sampling or amniocentesis.
Confirmed by analyzing the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis.
Q: What severe treatment option may be used for children with severe eczema?
A: Oral ciclosporin may be used in severe cases of eczema.
Q: What are the clinical features of febrile convulsions?
Usually occur early in a viral infection as the temperature rises rapidly.
Seizures are brief, typically lasting less than 5 minutes.
Most commonly tonic-clonic in nature.
Q: What age group is most commonly affected by febrile convulsions?
Febrile convulsions typically occur between the ages of 6 months and 5 years and are seen in 3% of children.
Q: What are the common features of Fragile X syndrome in males?
Learning difficulties
Large, low-set ears
Long, thin face
High arched palate
Macroorchidism
Hypotonia
Higher incidence of autism
Mitral valve prolapse
Q: What are the features of Fragile X syndrome in females?
Features range from normal to mild, as females have one fragile X chromosome and one normal X chromosome.
Q: What is Epstein’s pearl and how is it managed?
A: Epstein’s pearl is a congenital cyst found in the mouth, commonly on the hard palate or gums. They may be mistaken for an erupting tooth by parents. No treatment is generally required, as they typically resolve spontaneously within a few weeks.
Q: What are common withdrawal symptoms seen in babies with fetal alcohol syndrome at birth?
A: Symptoms may include irritability, hypotonia, and tremors.
Q: What are the types of febrile convulsions?
Simple: <15 minutes, generalized seizure, typically no recurrence within 24 hours.
Complex: 15-30 minutes, focal seizure, may have repeat seizures within 24 hours.
Febrile status epilepticus: >30 minutes, should be managed urgently.
Q: What is the management following a febrile convulsion?
Children with a first seizure or any features of a complex seizure should be admitted to paediatrics.
Parents should call for an ambulance if the seizure lasts >5 minutes.
Benzodiazepine rescue medication (rectal diazepam or buccal midazolam) may be used for recurrent seizures.
Q: What is the prognosis for children with febrile convulsions?
The overall risk of further febrile convulsions is 1 in 3.
Risk factors for further seizure include age of onset <18 months, fever <39ºC, short duration of fever before seizure, family history of febrile convulsions.
Children with no risk factors have a 2.5% risk of developing epilepsy, while those with all three risk factors have a 50% risk.
Q: What are the criteria for “Green - low risk” in febrile children?
Normal colour
Responds normally to social cues
Strong normal cry
Normal respiratory rate and oxygen saturation
Normal skin and eyes, moist mucous membranes
Q: What are some common physical and developmental features of fetal alcohol syndrome?
Learning difficulties
Microcephaly
Growth retardation
Epicanthic folds
Q: What are the characteristic facial features of fetal alcohol syndrome?
Short palpebral fissures
Thin vermillion border/hypoplastic upper lip
Smooth or absent philtrum
Q: What cardiac complications may be associated with fetal alcohol syndrome?
A: Cardiac malformations.
Q: What are the three risk categories in the NICE traffic light system for febrile children?
A: Green (low risk), Amber (intermediate risk), Red (high risk).
Q: What management should be done for “Green - low risk” febrile children?
A: Child can be managed at home with appropriate care advice and guidance on when to seek further help.
Q: What are the criteria for “Amber - intermediate risk” in febrile children?
Pallor reported by parent
Not responding normally to social cues
Tachypnoea or nasal flaring
Capillary refill time ≥3 seconds
Poor feeding, reduced urine output
Q: What are the criteria for “Red - high risk” in febrile children?
Pale/mottled/ashen/blue skin
No response to social cues
Appears ill to a healthcare professional
Weak, high-pitched or continuous cry
Non-blanching rash, bulging fontanelle, neck stiffness
Seizures, focal neurological signs
Q: How is gastroschisis managed?
Vaginal delivery may be attempted.
Newborns should be taken to surgery as soon as possible after delivery, ideally within 4 hours.
Q: What are the key points regarding antibiotics for febrile children?
A: Oral antibiotics should not be prescribed to children with fever without an apparent source.
Q: What is gastroschisis?
A: Gastroschisis is a congenital defect in the anterior abdominal wall, located just lateral to the umbilical cord.
Q: What is exomphalos (omphalocoele)?
A: Exomphalos is a condition where abdominal contents protrude through the anterior abdominal wall but remain covered by an amniotic sac formed by the amniotic membrane and peritoneum.
Q: What are key 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 are normal.
Symptoms are often intermittent and worse after a day of vigorous activity.
Q: What syndromes and conditions are associated with exomphalos?
Beckwith-Wiedemann syndrome
Down’s syndrome
Cardiac and kidney malformations
Q: How is exomphalos managed?
Caesarean section is recommended to reduce the risk of sac rupture.
A staged repair may be necessary:
Primary closure may be difficult due to limited space or high intra-abdominal pressure.
The sac is allowed to granulate and epithelialize, forming a “shell.”
Once the abdominal cavity can accommodate the contents, the shell is removed, and the abdomen is closed.
Q: What should be done for “Red - high risk” febrile children?
A: Refer urgently to a paediatric specialist.
Q: In which age range do growing pains commonly occur?
A: 3–12 years.
Q: What is the most important determinant of final adult height?
A: Genetic factors.
Q: Why does high insulin in a baby indicate its role in growth during infancy?
A: In mothers with poorly controlled diabetes, high maternal blood glucose leads to high fetal insulin levels. After birth, this can cause hypoglycemia and macrosomia, demonstrating insulin’s role in growth.
Q: What drives growth during infancy?
A: Nutrition and insulin.
Q: What drives growth during childhood?
A: Growth hormone and thyroxine.
Q: What drives growth during puberty?
A: Growth hormone and sex steroids, with high levels of growth hormone being essential for growth spurts.
Q: Why are newborns at risk of haemorrhagic disease of the newborn (HDN)?
A: Newborns are relatively deficient in vitamin K, which impairs the production of clotting factors, leading to a risk of bleeding.
Q: Why is growth hormone not a significant driver of growth during infancy?
A: Infants have a low number of growth hormone receptors, and their growth is not affected by hypopituitarism or thyroid issues.
Q: When should children be referred for height concerns?
Below the 2nd centile: Reviewed by a GP.
Below the 0.4th centile: Reviewed by a paediatrician.
Q: How frequently should weight be recorded to monitor growth in children?
Infants aged 0-1 years: At least 5 recordings.
Children aged 1-2 years: At least 3 recordings.
Children older than 2 years: Annual recording.
Q: Why are breast-fed babies at higher risk of HDN?
A: Breast milk is a poor source of vitamin K, increasing the risk of vitamin K deficiency.
Q: What should be done for “Amber - intermediate risk” febrile children?
A: Provide a safety net or refer to a paediatric specialist for further assessment.
Q: What preventive measure is offered to all newborns in the UK to prevent HDN?
A: Vitamin K supplementation, either intramuscularly or orally.
Q: What is the management for hand, foot, and mouth disease?
Symptomatic treatment: advice on hydration and analgesia.
Reassurance: no link to diseases in cattle.
Q: What causes hand, foot, and mouth disease?
A: It is caused by intestinal viruses of the Picornaviridae family, most commonly Coxsackie A16 and Enterovirus 71.
Q: What is the criterion for an immediate CT scan in children with a loss of consciousness?
A: Loss of consciousness lasting more than 5 minutes (witnessed).
Q: Do children with hand, foot, and mouth disease need to be excluded from school?
A: No, but unwell children should stay off school until they feel better.
Q: What type of amnesia warrants an immediate CT scan in children?
A: Amnesia (antegrade or retrograde) lasting more than 5 minutes.
What are features of Hand, Foot and Mouth Disease
Mild systemic upset: sore throat, fever.
Oral ulcers.
Vesicles on the palms and soles of the feet (appear later).
Q: How many episodes of vomiting in children after a head injury require an immediate CT scan?
A: Three or more discrete episodes of vomiting.
Q: What clinical signs of non-accidental injury indicate the need for an immediate CT scan?
A: Any clinical suspicion of non-accidental injury.
Q: What Glasgow Coma Scale (GCS) scores indicate the need for an immediate CT scan in children?
GCS less than 14 in children over 1 year old.
GCS less than 15 in babies under 1 year old.
Q: What focal neurological finding necessitates an immediate CT scan in children?
A: Any focal neurological deficit.
Q: What is another name for head lice?
A: Pediculosis capitis or “nits.”
Q: What are the symptoms of head lice infestation, and when do they appear?
A: Newly infected cases may have no symptoms. Itching and scratching on the scalp typically occur 2–3 weeks after infection.
Q: What skull injuries warrant an immediate CT scan in children?
A: Suspicion of open or depressed skull injury or tense fontanelle.
Q: What dangerous mechanisms of injury require an immediate CT scan in children?
High-speed road traffic accident (as pedestrian, cyclist, or vehicle occupant).
Fall from a height greater than 3 meters.
High-speed injury from a projectile or object.
Q: How is head lice diagnosed?
A: By fine-toothed combing of wet or dry hair.
Q: When is treatment for head lice indicated?
A: Treatment is only indicated if living lice are found.
Q: What physical finding on the head in children under 1 year requires an immediate CT scan?
A: Bruise, swelling, or laceration of more than 5 cm.
Q: What are signs of a basal skull fracture that require an immediate CT scan?
Haemotympanum.
Panda eyes.
Cerebrospinal fluid leakage from the ear or nose.
Battle’s sign.
Q: What treatment options are available for head lice?
Malathion
Wet combing
Dimeticone
Isopropyl myristate and cyclomethicone
Q: What are the first-line and second-line prophylactic treatments for pediatric migraines?
First-line: Pizotifen and propranolol.
Second-line: Valproate, topiramate, and amitriptyline.
Q: What are the diagnostic criteria for pediatric tension-type headache (TTH) according to IHS?
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:
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.
Q: What is the acute management for pediatric migraines?
Ibuprofen is more effective than paracetamol.
Triptans may be used in children ≥12 years, but follow-up is required.
Sumatriptan nasal spray (licensed) is the only proven triptan, but it is poorly tolerated by young people due to taste.
Oral triptans are not licensed for people <18 years.
Side effects of triptans: tingling, heat, and pressure sensations.
Q: Do household contacts of a patient with head lice need treatment?
A: No, unless they are also affected.
Q: What is the second most common cause of headaches in children?
A: Tension-type headache (TTH).
Q: What is the test used for newborn hearing screening?
A: Otoacoustic emission test. A computer-generated click is played through a small earpiece, and the presence of a soft echo indicates a healthy cochlea.
Q: What is the most common cause of primary headache in children?
A: Migraine without aura.
Q: What are the diagnostic criteria for pediatric migraine without aura (according to IHS)?
A: ≥ 5 attacks fulfilling features B to D.
B: Headache lasting 4-72 hours.
C: At least two of the following:
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 behavior).
Q: What is the distraction test, and at what age is it used?
A: The distraction test is performed on infants aged 6–9 months by a health visitor, requiring two trained staff. It involves observing the infant’s response to sounds.
Q: What causes Hirschsprung’s disease?
A: Hirschsprung’s disease is caused by an aganglionic segment of the bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.
Q: What tests are used for children older than 2.5 years?
Performance testing
Speech discrimination tests (e.g., Kendall Toy test, McCormick Toy Test)
Q: What is the follow-up test if a newborn’s otoacoustic emission test is abnormal?
A: Auditory Brainstem Response test.
Q: Which genetic condition is associated with Hirschsprung’s disease?
A: Down’s syndrome.
Q: What test is used for children aged 18 months to 2.5 years?
A: Recognition of familiar objects. The child is asked simple questions like “Where is the teddy?” using familiar objects like a teddy or cup.
Q: What test is done for children aged 3 years and older?
A: Pure tone audiometry, typically performed at school entry in most areas of the UK.
Q: What are the possible presentations of Hirschsprung’s disease?
Neonatal period: Failure or delay in passing meconium.
Older children: Constipation and abdominal distension.
Q: What are the investigations used for Hirschsprung’s disease?
Abdominal x-ray.
Rectal biopsy (gold standard for diagnosis).
Q: What is the management for Hirschsprung’s disease?
Initial management: Rectal washouts or bowel irrigation.
Definitive management: Surgery to remove the affected segment of the colon.
Q: What causes Homocystinuria?
A: Homocystinuria is caused by a deficiency of cystathionine beta synthase, leading to severe elevations in plasma and urine homocysteine concentrations.
Q: What are the key features of Hypospadias?
Ventral urethral meatus.
Hooded prepuce.
Chordee: Ventral curvature of the penis (in more severe cases).
The urethral meatus may open more proximally in severe cases, but 75% of the openings are distally located.
Q: What investigations are used to diagnose Homocystinuria?
Increased homocysteine levels in serum and urine.
Cyanide-nitroprusside test (positive also in cystinuria).
Q: What is hypotonia?
A: Hypotonia, also known as floppiness, refers to decreased muscle tone and may be due to central nervous system problems or issues with nerves and muscles.
Q: What is Hypospadias?
A: Hypospadias is a congenital abnormality of the penis where the urethral meatus opens on the ventral side instead of the tip. It occurs in approximately 3/1,000 male infants.
Q: What are the key features of Homocystinuria?
Musculoskeletal: Marfanoid body habitus (arachnodactyly), osteoporosis, kyphosis.
Neurological: Learning difficulties, seizures.
Ocular: Downward (inferonasal) dislocation of the lens, severe myopia.
Increased risk of arterial and venous thromboembolism.
Malar flush and livedo reticularis.
Q: What is the treatment for Homocystinuria?
A: Vitamin B6 (pyridoxine) supplements.
Q: What are the common associated conditions with Hypospadias?
A: Cryptorchidism (10% of cases) and inguinal hernia.
Q: What is a common cause of hypotonia in an acutely ill child?
A: Hypotonia in an acutely ill child, such as one with sepsis, may be present on examination.
Q: How is Hypospadias managed?
Referral to specialist services after diagnosis.
Corrective surgery is typically performed at around 12 months of age.
The child should not be circumcised prior to surgery, as the foreskin may be used in the procedure.
For very distal cases, no treatment may be needed.
Q: What is the most common cause of hypothyroidism in children?
A: The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis.
Q: What are other causes of hypothyroidism in children?
Post total-body irradiation (e.g., after treatment for acute lymphoblastic leukaemia).
Iodine deficiency (the most common cause in the developing world).
Q: What are some neurological and muscular causes of hypotonia?
Spinal muscular atrophy
Spina bifida
Guillain-Barré syndrome
Myasthenia gravis
Muscular dystrophy
Myotonic dystrophy
Q: What condition is most likely to cause hypotonia associated with encephalopathy in the newborn period?
A: Hypoxia-ischemic encephalopathy is the most likely cause of hypotonia associated with encephalopathy in the newborn period.
Q: What is immune thrombocytopenic purpura (ITP)?
A: ITP is an immune-mediated reduction in platelet count, where antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is a type II hypersensitivity reaction.
Q: What are common investigations for ITP?
Full blood count (to demonstrate isolated thrombocytopenia)
Blood film
Bone marrow examination (only if there are atypical features such as lymph node enlargement, splenomegaly, or failure to resolve)
Q: What vaccines are given at 3-4 years of age?
‘4-in-1 pre-school booster’ (Diphtheria, Tetanus, Whooping Cough, and Polio)
MMR (Measles, Mumps, Rubella)
Q: What is the typical management for ITP in children?
Most children do not require treatment, as ITP resolves in around 80% within 6 months.
Advice to avoid activities that may result in trauma.
If platelet count is very low (<10 * 10^9/L) or there is significant bleeding, options include:
Oral/IV corticosteroids
IV immunoglobulins
Platelet transfusions (used in emergencies, but only temporary)
Q: What are the contraindications to live vaccines?
Pregnancy
Immunosuppression
Q: What are some central causes of hypotonia in children?
Down’s syndrome
Prader-Willi syndrome
Hypothyroidism
Cerebral palsy (hypotonia may precede spasticity)
Q: What are the 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 vaccine (e.g. egg protein).
Q: How does ITP typically present in children?
A: ITP in children is typically more acute than in adults and may follow an infection or vaccination. Common features include bruising, petechial or purpuric rash, and bleeding (often epistaxis or gingival bleeding).
Q: What vaccines are given at 4 months of age?
‘6-in-1 vaccine’ (Diphtheria, Tetanus, Whooping Cough, Polio, Hib, and Hepatitis B)
Men B vaccine
Q: What immunisations are recommended at birth?
BCG (if risk factors, such as tuberculosis in the family, are present)
Q: What vaccines are given at 3 months of age?
‘6-in-1 vaccine’ (Diphtheria, Tetanus, Whooping Cough, Polio, Hib, and Hepatitis B)
Oral Rotavirus vaccine
PCV (Pneumococcal Conjugate Vaccine)
Q: In which situations should vaccines be delayed?
A: Vaccines should be delayed during febrile illness or intercurrent infections.
Q: Is vaccination contraindicated in children with evolving or unstable neurological conditions?
A: Yes, vaccination should be deferred in children with an evolving or unstable neurological condition for the DTP (Diphtheria, Tetanus, Pertussis) vaccine.
Q: What vaccines are given at 2 months of age?
‘6-in-1 vaccine’ (Diphtheria, Tetanus, Whooping Cough, Polio, Hib, and Hepatitis B)
Oral Rotavirus vaccine
Men B vaccine
Q: What vaccines are given between 2-8 years of age?
Annual Flu vaccine
Q: What vaccines are given at 13-18 years of age?
‘3-in-1 teenage booster’ (Tetanus, Diphtheria, and Polio)
Men ACWY (Meningococcal vaccine covering A, C, W, and Y serotypes)
Q: What vaccines are given at 12-13 months of age?
Hib/Men C vaccine
MMR (Measles, Mumps, Rubella)
PCV
Men B vaccine
Q: What is infantile colic, and at what age does it typically occur?
Infantile colic is a common, benign condition seen in infants under 3 months old, characterised by episodes of excessive crying and pulling-up of the legs, often worse in the evening. It affects up to 20% of infants, and the cause is unknown.
Q: What vaccines are given at 12-13 years of age?
HPV vaccine (Human Papilloma Vaccine)
Q: What is infantile spasms (West syndrome), and when do they typically present?
Infantile spasms, also known as West syndrome, is a type of childhood epilepsy that usually presents in the first 4 to 8 months of life. It is more common in male infants and often indicates a serious underlying condition with a poor prognosis.
Q: What is the recommended treatment for infantile colic according to NICE guidelines?
NICE does not recommend the use of simeticone (e.g., Infacol) or lactase (e.g., Colief) drops for treating infantile colic.
Q: What are the characteristic features of infantile spasms?
The characteristic feature is ‘salaam’ attacks, which involve flexion of the head, trunk, and arms followed by extension of the arms. Each attack lasts only 1-2 seconds but may be repeated up to 50 times. Progressive mental handicap is also common.
Q: What investigation findings are commonly associated with infantile spasms?
EEG shows hypsarrhythmia in two-thirds of infants.
CT may show diffuse or localized brain disease in 70% of cases (e.g., tuberous sclerosis).
Q: What are the common types of innocent murmurs in children?
Ejection murmurs: Due to turbulent blood flow at the outflow tract of the heart.
Venous hums: Due to turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise just below the clavicles.
Still’s murmur: A low-pitched sound heard at the lower left sternal edge.
Q: What is Intraventricular Haemorrhage (IVH), and when does it commonly occur in neonates?
Intraventricular haemorrhage is bleeding into the ventricular system of the brain. It is rare in adults but may occur spontaneously in premature neonates, particularly within the first 72 hours after birth. The exact aetiology is not well understood but may be related to birth trauma, cellular hypoxia, and the delicate neonatal CNS.
Q: What are the characteristics of an innocent ejection murmur in children?
Soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area.
May vary with posture.
Localized with no radiation.
No diastolic component.
No thrill or added sounds (e.g., clicks).
Heard in an asymptomatic child with no other abnormality.
Q: What are the classic features of Intussusception in infants?
Intermittent, severe, crampy abdominal pain
Inconsolable crying
Drawing up of knees and turning pale during paroxysms
Vomiting
Bloodstained stool (late sign, described as ‘red-currant jelly’)
Sausage-shaped mass in the right upper quadrant
Q: What is the first-line treatment for infantile spasms?
Vigabatrin is considered first-line therapy for infantile spasms. ACTH (adrenocorticotropic hormone) is also used in treatment.
Q: What is the primary concern with Intraventricular Haemorrhage (IVH) in neonates?
The blood may clot and block CSF flow, leading to hydrocephalus (excessive fluid in the brain) and increasing intracranial pressure (ICP).
Q: What is Intussusception, and which age group is most commonly affected?
Intussusception is the telescoping or invagination of one part of the bowel into the lumen of an adjacent segment, most commonly around the ileo-caecal region. It typically affects infants aged 6-18 months, with boys being affected twice as often as girls.
Q: How is Intraventricular Haemorrhage (IVH) in neonates typically treated?
Treatment is mainly supportive. Prophylactic therapies such as intraventricular thrombolysis and CSF drainage have not shown clear benefit. Shunting is considered if hydrocephalus or rising ICP develops.
Q: How is Intussusception diagnosed and managed?
Diagnosis: The investigation of choice is ultrasound, which may show a target-like mass.
Management: Most children are treated with reduction by air insufflation under radiological control (first-line treatment). If this fails or if signs of peritonitis are present, surgery is performed.
Q: What is the definition of Juvenile Idiopathic Arthritis (JIA)?
JIA refers to arthritis in children less than 16 years old that lasts for more than 6 weeks. Pauciarticular JIA affects 4 or fewer joints and accounts for around 60% of JIA cases.
Q: What should be suspected if jaundice persists beyond 14 days (or 21 days in premature infants)?
If jaundice persists after 14 days, prolonged jaundice should be investigated. Key tests include:
Conjugated and unconjugated bilirubin
Direct antiglobulin test (Coombs’ test)
TFTs (Thyroid Function Tests)
FBC and blood film
Urine for MC&S and reducing sugars
U&Es and LFTs
Q: What is the significance of jaundice in the first 24 hours of life in newborns?
Jaundice in the first 24 hours is always pathological and should be investigated.
Common causes include:
Rhesus haemolytic disease
ABO haemolytic disease
Hereditary spherocytosis
Glucose-6-phosphodehydrogenase deficiency
Q: What is the cause of jaundice in neonates between 2-14 days and how common is it?
Jaundice in this age group is common (up to 40%) and is typically physiological. It occurs due to:
Increased red blood cell turnover
Fragility of red blood cells
Immature liver function
It is more commonly seen in breastfed babies.
Q: What are the potential causes of prolonged jaundice?
Biliary atresia
Hypothyroidism
Galactosaemia
Urinary tract infection
Breast milk jaundice
(mechanism thought to involve high levels of beta-glucuronidase in breast milk)
Prematurity (due to immature liver function)
Congenital infections (e.g., CMV, toxoplasmosis)
Q: What is Osgood-Schlatter Disease (Tibial Apophysitis) and its key features?
Common in sporty teenagers
Pain, tenderness, and swelling over the tibial tubercle
Q: What is the management for Kawasaki Disease?
High-dose aspirin (important exception to the usual aspirin contraindication in children)
Intravenous immunoglobulin (IVIG)
Echocardiogram (for screening coronary artery aneurysms)
Q: What are the key features of Kawasaki Disease?
High-grade fever lasting for > 5 days (resistant to antipyretics)
Conjunctival injection
Bright red, cracked lips
Strawberry tongue
Cervical lymphadenopathy
Red palms and soles (later peel)
Q: What is Kawasaki Disease?
Kawasaki disease is a type of vasculitis predominantly seen in children. It is important to recognize due to the risk of serious complications, including coronary artery aneurysms.
Q: What are the typical features of pauciarticular JIA?
Joint pain and swelling (usually in medium-sized joints such as knees, ankles, and elbows)
Limp
Positive ANA (Antinuclear Antibody) test
Associated with anterior uveitis
Q: What is the significance of referred pain in knee problems?
Referred pain may come from hip problems, such as slipped upper femoral epiphysis.
Q: What is Transient Synovitis and its key features in a limping child?
Acute onset
Often follows a viral infection
The child is typically well or has a mild fever
More common in boys, aged 2-12 years
Q: What is Osteochondritis Dissecans and its key features?
Pain after exercise
Intermittent swelling and locking of the knee
Q: What are the key features of systemic onset JIA (Still’s disease)?
Pyrexia (fever)
Salmon-pink rash
Lymphadenopathy
Arthritis
Uveitis
Anorexia and weight loss
Q: What are the typical investigations for systemic onset JIA?
ANA may be positive, especially in oligoarticular JIA
Rheumatoid factor is usually negative
Q: What is Patellar Tendonitis and its key features?
More common in athletic teenage boys
Chronic anterior knee pain (worsens after running)
Tenderness below the patella on examination
Q: What is Chondromalacia Patellae and its key features?
Softening of the cartilage of the patella
Common in teenage girls
Anterior knee pain (worsens when walking up/down stairs and rising from sitting)
Typically responds to physiotherapy
Q: What is Patellar Subluxation and its key features?
Medial knee pain due to lateral subluxation of the patella
Knee may give way
Q: What are the potential complications of Kawasaki Disease?
Coronary artery aneurysm
Q: What is the significance of Trauma in a limping child?
The history is typically diagnostic
May involve fractures or soft tissue injuries
Q: What is the presentation of Septic Arthritis/Osteomyelitis in a limping child?
Unwell child with high fever
The limp is usually associated with significant pain and inability to bear weight
Q: What are the investigations and management for measles?
Investigations:
IgM antibodies detectable a few days after rash onset
Management:
Mainly supportive care
Admission for immunosuppressed or pregnant patients
Notifiable disease: Notify public health
Complications:
Otitis media, pneumonia (leading cause of death)
Encephalitis (1-2 weeks post-onset)
Subacute sclerosing panencephalitis (rare, 5-10 years later)
Febrile convulsions, keratoconjunctivitis, diarrhoea, appendicitis, myocarditis
Q: What is Juvenile Idiopathic Arthritis (JIA) and its key features in a limping child?
Limp may be painless
Can affect multiple joints
Often presents with morning stiffness
Q: What is Perthes Disease and its key features in a limping child?
Occurs in children aged 4-8 years
Caused by avascular necrosis of the femoral head
Typically presents with hip pain and a limp
Q: What are the presentations of Meckel’s diverticulum?
Often asymptomatic
Can present with:
Abdominal pain (mimicking appendicitis)
Rectal bleeding (most common cause of painless massive GI bleeding in children aged 1-2 years)
Intestinal obstruction (due to omphalomesenteric band, volvulus, or intussusception)
Q: What is Measles and its key features?
Overview:
Caused by RNA paramyxovirus
Highly contagious, spread by aerosol transmission
Incubation period: 10-14 days
Infectious from prodrome until 4 days after rash onset
Prodromal Phase:
Irritable
Conjunctivitis
Fever
Koplik spots (white, grain-of-salt spots on buccal mucosa)
Rash:
Starts behind ears and spreads to the body
Maculopapular rash becoming blotchy & confluent
Desquamation (peeling), sparing palms and soles
Diarrhoea in ~10%
Q: What is Developmental Dysplasia of the Hip (DDH) and its key features?
Usually detected in neonates
More common in girls, about 6 times more likely
Can cause hip instability leading to a limp
Q: What is Slipped Upper Femoral Epiphysis (SUFE) and its key features?
Occurs in children aged 10-15 years
Displacement of the femoral head epiphysis postero-inferiorly
Associated with pain in the hip or knee and limp
Q: What is McCune-Albright Syndrome and its features?
Not inherited: Caused by a random somatic mutation in the GNAS gene
Precocious puberty
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Short stature
Q: What is Meconium Aspiration Syndrome (MAS) and what causes it?
Meconium aspiration syndrome occurs when meconium is inhaled into the trachea during the neonatal period, leading to respiratory distress.
It is most common in post-term deliveries (babies born after 42 weeks).
Risk factors include:
Maternal hypertension
Pre-eclampsia
Chorioamnionitis
Smoking or substance abuse
Q: What are the investigations for Meckel’s diverticulum?
If stable with less severe bleeding, consider a Meckel’s scan
Uses 99m technetium pertechnetate (affinity for gastric mucosa)
For more severe cases (e.g., transfusion required), consider mesenteric arteriography
Q: How should measles contacts be managed?
If an unimmunized child comes into contact with measles, offer MMR vaccine
Best given within 72 hours of exposure
Vaccine-induced antibody develops more rapidly than natural infection
Q: What is the management for Meckel’s diverticulum?
Surgical removal if symptomatic or narrow neck
Excision options:
Wedge excision or
Formal small bowel resection and anastomosis
Q: What is Meckel’s Diverticulum and its key features?
Congenital diverticulum of the small intestine
A remnant of the omphalomesenteric duct (vitellointestinal duct)
Contains ectopic mucosa (ileal, gastric, or pancreatic)
Rule of 2s:
Occurs in 2% of the population
Located 2 feet from the ileocaecal valve
Measures 2 inches in length
Q: What are the complications of Meconium Aspiration Syndrome (MAS)?
Pneumonitis (inflammation of the lungs)
Airway obstruction
Pulmonary hypertension
Hypoxia
In severe cases, it can lead to:
Respiratory failure
Acid-base disturbances
Q: What are the investigations for Meconium Aspiration Syndrome (MAS)?
Chest X-ray: May show:
Hyperinflation
Patchy infiltrates or atelectasis (lung collapse)
Coarse streaks indicating meconium in the lungs
ABG (Arterial Blood Gas): To assess oxygenation and acid-base status
Q: What are the clinical features of Meconium Aspiration Syndrome (MAS)?
Respiratory distress in the immediate neonatal period
Severe cases may cause:
Tachypnea
Grunting
Nasal flaring
Cyanosis
Q: What is the management of Meconium Aspiration Syndrome (MAS)?
Suctioning the airway at birth (if meconium is visible in the airways)
Oxygen support:
Ventilatory support may be required if there is significant respiratory distress
Surfactant therapy in severe cases
Antibiotics if infection is suspected
Monitoring for complications (e.g., pulmonary hypertension)
Q: What are the investigations for meningococcal septicaemia in children?
Lumbar puncture is contraindicated
Blood cultures
PCR for meningococcus
Q: What are the contraindications to performing a lumbar puncture in children suspected of having meningitis?
Signs of raised ICP
Focal neurological signs
Papilloedema
Significant bulging of the fontanelle
Disseminated intravascular coagulation
Signs of cerebral herniation
Q: What are the antibiotic treatments for meningitis in children?
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone)
Q: When should corticosteroids be considered in the treatment of meningitis in children?
< 3 months: NICE advises against corticosteroids
> 3 months: Consider dexamethasone if lumbar puncture shows:
Frankly purulent CSF
CSF WBC count > 1000/µL
CSF protein concentration > 1 g/L
Bacteria on Gram stain
Q: What is the management for fluids and cerebral monitoring in children with meningitis?
Treat any shock (e.g., with colloid)
Cerebral monitoring: Mechanical ventilation if respiratory impairment
Q: What is the treatment for mesenteric adenitis?
Mesenteric adenitis typically requires no treatment, as it resolves on its own in most cases.
Q: What are the public health measures for meningitis cases in children?
Public health notification
Antibiotic prophylaxis for contacts: Ciprofloxacin is preferred over rifampicin
Q: What is mesenteric adenitis?
Mesenteric adenitis is the inflammation of lymph nodes within the mesentery, often causing symptoms similar to appendicitis.
Q: How can mesenteric adenitis be distinguished from appendicitis?
While both can present with similar abdominal pain, mesenteric adenitis often follows a viral infection and typically does not require treatment, while appendicitis may require surgical intervention.
Q: What are the causes of microcephaly?
Normal variation: Small child with a naturally small head
Familial: Parents with small heads
Congenital infections (e.g., Zika virus, rubella)
Perinatal brain injury (e.g., hypoxic-ischemic encephalopathy)
Fetal alcohol syndrome
Genetic syndromes (e.g., Patau syndrome)
Craniosynostosis (premature fusion of skull bones)
Q: What are the common symptoms of mesenteric adenitis?
Abdominal pain (similar to appendicitis)
Often follows a recent viral infection
May cause tenderness in the lower right abdomen
Q: What syndromes are associated with microcephaly?
Patau syndrome (Trisomy 13)
Other genetic syndromes (e.g., Seckel syndrome, Smith-Lemli-Opitz syndrome)
Q: What is the definition of microcephaly?
Microcephaly is defined as an occipital-frontal circumference (OFC) < 2nd centile, indicating a head size smaller than expected for the child’s age and gender.
Q: How is microcephaly typically diagnosed?
It is diagnosed through measurements of the occipital-frontal circumference (OFC), with values below the 2nd centile indicating microcephaly.
Q: What are some examples of mitochondrial diseases?
Leber’s optic atrophy
Symptoms start around 30 years old
Features: central scotoma, loss of colour vision, rapid onset of visual impairment.
MELAS syndrome
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
MERRF syndrome
Myoclonus epilepsy with ragged-red fibres.
Kearns-Sayre syndrome
Onset before 20 years old
Features: external ophthalmoplegia, retinitis pigmentosa, ptosis, and sensorineural hearing loss.
Q: What is the typical histological finding in mitochondrial diseases?
Red, ragged fibres seen on muscle biopsy due to an increased number of mitochondria.
Q: What are the general management points for a napkin rash?
Disposable nappies are preferred over towel nappies.
Expose the napkin area to air when possible.
Apply a barrier cream (e.g. Zinc and castor oil).
For severe cases, use a mild steroid cream (e.g. 1% hydrocortisone).
For suspected candidal nappy rash, use a topical imidazole.
Cease the use of barrier cream until the candida has settled.
Q: What are the causes of a napkin (nappy) rash?
Irritant dermatitis
Most common cause. Caused by irritants like urinary ammonia and faeces.
Creases are characteristically spared.
Candida dermatitis
Erythematous rash, often involves flexures and has satellite lesions.
Seborrhoeic dermatitis
Erythematous rash with flakes. May coexist with a scalp rash.
Psoriasis
Less common cause, erythematous scaly rash. May also be seen elsewhere on the skin.
Atopic eczema
Affects other areas of the skin.
Q: What are the contraindications to the MMR vaccine?
Severe immunosuppression
Allergy to neomycin
Received another live vaccine by injection within the last 4 weeks
Pregnancy: Should be avoided for at least 1 month following vaccination.
Immunoglobulin therapy within the past 3 months: Could prevent an immune response to the measles vaccine.
Q: What is the typical presentation and location of common neck masses in children?
Thyroglossal Cyst:
Location: Midline, below the hyoid.
Appearance: Thin-walled, anechoic on ultrasound.
Branchial Cyst:
Location: Anterior to the sternocleidomastoid near the mandible.
Appearance: Anechoic unless infected.
Dermoids:
Location: Suprahyoid, midline.
Appearance: Heterogeneous, with fat and calcium.
Lymphatic Malformations:
Location: Posterior to sternocleidomastoid.
Appearance: Hypoechoic fluid-filled lesions.
Infantile Haemangioma:
Location: Can occur in either triangle of the neck.
Growth pattern: Rapid growth followed by regression.
Q: What findings on abdominal X-rays are helpful in diagnosing necrotising enterocolitis?
Dilated bowel loops
Often asymmetrical in distribution.
Bowel wall oedema
Indicates inflammation and swelling of the bowel walls.
Pneumatosis intestinalis
Intramural gas within the bowel wall.
Portal venous gas
Gas seen within the portal veins.
Pneumoperitoneum
Gas in the abdominal cavity, typically due to perforation.
Rigler’s sign
Air both inside and outside of the bowel wall.
Football sign
Air outlining the falciform ligament, indicating extensive peritonitis.
Q: What are the adverse effects following the MMR vaccine?
Malaise, fever, and rash may occur, typically 5-10 days after the first dose.
These symptoms last around 2-3 days.
Q: What is the common blood glucose level used to define neonatal hypoglycaemia?
< 2.6 mmol/L (commonly used in guidelines).
Q: What are the common types of neck masses in children?
Thyroglossal Cyst
Located in the anterior triangle, below the hyoid.
Derived from remnants of the thyroglossal duct.
Thin-walled and anechoic on ultrasound (unless infected).
Branchial Cyst
Occurs due to incomplete obliteration of the branchial apparatus.
Usually located anterior to the sternocleidomastoid, near the angle of the mandible.
Fluid is anechoic unless infected.
Dermoids
Derived from pleuripotent stem cells.
Midline location, commonly suprahyoid.
Heterogeneous appearance with calcium and fat content.
Thyroid Gland Lesions
Rare in children, often due to thyroglossal cysts or tumours (e.g., lymphoma).
Lymphatic Malformations
Located posterior to the sternocleidomastoid.
Cystic hygromas result from occlusion of lymphatic channels.
Typically hypoechoic on ultrasound.
Infantile Haemangioma
Can present in either triangle of the neck.
Initially grows rapidly, then often regresses.
X-rays show calcified phleboliths.
Lymphadenopathy
Located in either triangle of the neck.
May be reactive or neoplastic.
Generalised lymphadenopathy is often secondary to infection in children.
Q: What are the initial symptoms of necrotising enterocolitis (NEC) in preterm infants?
Feeding intolerance
Abdominal distension
Bloody stools
Progression to more severe signs:
Abdominal discolouration
Perforation
Peritonitis
Q: What is neonatal sepsis and its classification?
Neonatal sepsis is a life-threatening bacterial or viral infection in the blood affecting babies within the first 28 days of life. It is categorized into:
Early-onset sepsis (EOS): Occurs within 72 hours of birth.
Late-onset sepsis (LOS): Occurs between 7-28 days of life.
Q: When is neonatal blood spot screening typically performed?
5-9 days of life.
Q: What is the management for symptomatic or very low blood glucose in neonatal hypoglycaemia?
Admit to the neonatal unit.
Administer intravenous infusion of 10% dextrose.
Q: What are some common causes of persistent/severe neonatal hypoglycaemia?
Preterm birth (< 37 weeks)
Maternal diabetes mellitus
Intrauterine growth restriction (IUGR)
Hypothermia
Neonatal sepsis
Inborn errors of metabolism
Nesidioblastosis
Beckwith-Wiedemann syndrome
Q: What are some causes of neonatal hypotonia?
Neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
Hypothyroidism
Prader-Willi syndrome
Q: How is asymptomatic neonatal hypoglycaemia managed?
Encourage normal feeding (breast or bottle).
Monitor blood glucose levels.
Q: What are some symptoms of neonatal hypoglycaemia?
Autonomic symptoms:
Jitteriness
Tachypnoea
Pallor
Neuroglycopenic symptoms:
Poor feeding/sucking
Weak cry
Drowsiness
Hypotonia
Seizures
Other features:
Apnoea
Hypothermia
Irritability
Q: What are some maternal causes of neonatal hypotonia?
Maternal drug use (e.g., benzodiazepines)
Maternal myasthenia gravis
Q: What are the most common causes of neonatal sepsis?
Group B Streptococcus (GBS): The primary cause of early-onset sepsis in the UK (75% of cases).
Escherichia coli (E. coli): Common cause for both early and late-onset sepsis.
Coagulase-negative staphylococci (e.g., Staphylococcus epidermidis), Klebsiella, Pseudomonas aeruginosa, Enterobacter, and fungal species are more common in late-onset sepsis.
Q: What are the risk factors for neonatal sepsis?
Premature birth (<37 weeks)
Low birth weight (<2.5 kg)
Maternal factors:
Previous GBS infection
Current GBS colonization
Intrapartum fever (≥38ºC)
Prolonged rupture of membranes (≥18 hours)
Maternal infection during pregnancy
Chorioamnionitis (inflammation of the fetal membranes)
Q: What are the clinical features of neonatal sepsis?
Respiratory distress: Grunting, nasal flaring, tachypnoea, use of accessory muscles
Apnoea: 40% of cases
Change in mental status/lethargy
Seizures (if meningitis is present)
Poor feeding/reduced sucking
Jaundice: 35%
Temperature abnormalities: Term infants may be febrile; preterm infants may be hypothermic
Abdominal symptoms: Abdominal distension, vomiting (in 25%)
Q: What are the key investigations for neonatal sepsis?
Blood culture: Crucial for diagnosis (sensitivity ~90%).
Full blood examination (FBE): To assess neutrophil counts, although not always diagnostic.
C-reactive protein (CRP): Raised CRP is common; can help guide management.
Blood gases: Important for detecting metabolic acidosis.
Urine microscopy and culture: More useful in late-onset sepsis.
Lumbar puncture: If meningitis is suspected, or as part of a septic screen for babies <28 days old.
Q: What is the management of neonatal sepsis?
Antibiotics:
First-line: Intravenous benzylpenicillin + gentamicin.
Duration: Usually 10 days if culture-proven sepsis. Can cease antibiotics after 48 hours if CRP <10 mg/L and blood cultures are negative.
Supportive care:
Oxygenation, fluid management, correction of metabolic acidosis, and prevention/management of hypoglycaemia.
CRP monitoring: Reassess after 18-24 hours to guide treatment duration
Q: What are the classic features of nephrotic syndrome in children?
Proteinuria: >1 g/m² per 24 hours
Hypoalbuminaemia: < 25 g/L
Oedema
Q: What is the first step in newborn resuscitation?
Dry the baby and maintain temperature to prevent heat loss.
Q: What should you assess in a newborn immediately after birth?
Tone
Respiratory rate
Heart rate
Q: What action should be taken if the baby is gasping or not breathing?
Give 5 inflation breaths to initiate lung inflation and support breathing.
Q: How should you reassess the baby after the initial inflation breaths?
Look for chest movements to assess if breathing has started.
Q: What should be done if the heart rate remains <60 bpm and is not improving?
Start chest compressions and give ventilation breaths at a 3:1 ratio (3 compressions to 1 breath).
Q: How do inflation breaths differ from ventilation breaths in newborn resuscitation?
Inflation breaths aim to sustain pressure to open the lungs.
Ventilation breaths are given to support continuous breathing once the lungs are open.
Q: At what age should most children achieve day and night time continence?
By 3 or 4 years of age.
Q: How is nocturnal enuresis defined?
Involuntary discharge of urine at night in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract.
Q: When is desmopressin used in the management of nocturnal enuresis?
Used for short-term control (e.g., sleepovers) or when enuresis alarms have been ineffective or are not acceptable to the family.
Q: What are the two types of nocturnal enuresis?
Primary enuresis: Child has never achieved continence.
Secondary enuresis: Child was dry for at least 6 months before wetting again.
Q: What are some underlying causes of nocturnal enuresis to look for?
Constipation
Diabetes mellitus
Urinary tract infection (UTI) if recent onset
Q: What are some general management tips for nocturnal enuresis?
Fluid intake regulation
Encourage toileting patterns: Empty bladder regularly during the day and before sleep
Lifting and waking the child during the night
Reward systems: Use star charts for behavior rather than dry nights
Enuresis alarm: First-line treatment with high success rate.
Q: What are some features similar to Turner’s syndrome found in Noonan syndrome?
Webbed neck
Widely spaced nipples
Short stature
Pectus carinatum and pectus excavatum
Q: What does NICE recommend for children with obesity based on BMI?
Tailored clinical intervention should be considered if BMI is at the 91st centile or above.
Assessing for comorbidities should be considered if BMI is at the 98th centile or above.
Q: What is the inheritance pattern of Noonan syndrome?
Autosomal dominant condition.
Q: What are some characteristic clinical signs of Noonan syndrome that distinguish it from Turner’s syndrome?
Cardiac: Pulmonary valve stenosis
Ptosis
Triangular-shaped face
Low-set ears
Coagulation problems: Factor XI deficiency
Q: What are some causes of obesity in children?
Growth hormone deficiency
Hypothyroidism
Down’s syndrome
Cushing’s syndrome
Prader-Willi syndrome
Q: What are the common responsible organisms for ophthalmia neonatorum?
Chlamydia trachomatis
Neisseria gonorrhoeae
Q: What does ophthalmia neonatorum refer to?
Ophthalmia neonatorum refers to infection of the newborn eye.
Q: What are the age definitions for infants and children in paediatric BLS?
Infant: Under 1 year
Child: 1 year to puberty
Q: What is Osgood-Schlatter disease?
Osgood-Schlatter disease (also known as tibial apophysitis) is a type of osteochondrosis characterized by inflammation at the tibial tuberosity.
Q: What are the steps in the paediatric BLS algorithm?
Unresponsive? Shout for help.
Open airway.
Look, listen, feel for breathing.
Give 5 rescue breaths.
Check for signs of circulation.
Chest compressions: 15:2 (if two or more rescuers) or 30:2 (for lay rescuers).
Chest compressions: 100-120/min.
Compression depth:
Infants: 4 cm
Children: 5 cm
Q: How do you check for circulation in infants and children?
Infants: Brachial or femoral pulse.
Children: Femoral pulse.
Q: What should be done if ophthalmia neonatorum is suspected in a newborn?
The newborn should be referred for same-day ophthalmology or paediatric assessment.
Q: What are the compression:ventilation ratios in paediatric BLS?
Lay rescuers: 30:2
Two or more rescuers with a duty to respond: 15:2
Q: What is the management for Osgood-Schlatter disease?
The management is supportive.
Q: How should chest compressions be performed in infants and children?
Infants: Two-thumb encircling technique.
Children: Compress the lower half of the sternum.
Q: What is the typical age of presentation for acute appendicitis in children?
Age of presentation: Uncommon under 3 years but can occur atypically.
Q: What is the presentation and treatment for pyloric stenosis?
Presentation: Projectile, non-bile stained vomiting at 4-6 weeks of life.
Treatment: Ramstedt pyloromyotomy (open or laparoscopic).
Q: How does mesenteric adenitis present and how is it managed?
Presentation: Central abdominal pain and upper respiratory tract infection (URTI).
Management: Conservative.
Q: How is intestinal malrotation diagnosed and treated?
Diagnosis: Upper GI contrast study and USS.
Treatment: Laparotomy with Ladd’s procedure (if volvulus is present or at risk).
Q: What is the classic presentation and treatment for intussusception in infants?
Presentation: 6-9 months, colicky pain, diarrhoea, vomiting, sausage-shaped mass, red jelly stool.
Treatment: Reduction with air insufflation.
Q: What is Hirschsprung’s disease and its treatment?
Definition: Absence of ganglion cells in the myenteric and submucosal plexuses.
Diagnosis: Full-thickness rectal biopsy.
Treatment: Rectal washouts initially, followed by an anorectal pull-through procedure.
Q: What is the typical presentation of oesophageal atresia and associated conditions?
Presentation: Choking and cyanotic spells after aspiration.
Associations: Tracheo-oesophageal fistula, polyhydramnios, and VACTERL association.
Q: What are the signs and treatment of meconium ileus?
Presentation: Delayed passage of meconium and abdominal distension.
Associated condition: Majority have cystic fibrosis.
Treatment: Surgery if PR contrast and NG N-acetyl cysteine do not resolve the blockage.
Q: What are the signs of biliary atresia and how is it managed?
Presentation: Jaundice >14 days, increased conjugated bilirubin.
Treatment: Urgent Kasai procedure.
Q: How is developmental dysplasia of the hip (DDH) diagnosed, presented, and treated?
Diagnosis: Screened in infancy, may be bilateral. In unilateral cases, leg length inequality may be present.
Presentation: Limp and early onset arthritis as disease progresses. More common in extended breech babies.
Treatment:
Infants: Splints and harnesses or traction.
Older children: Osteotomy and hip realignment procedures.
In arthritis: Joint replacement (deferred if possible).
Radiology:
USS gives best resolution until 3 months of age.
On plain films, Shenton’s line should form a smooth arc.
Q: What is Perthes disease, its presentation, treatment, and radiological findings?
Presentation: Hip pain (often referred to the knee), usually between 5 and 12 years.
Bilateral in 20% of cases.
Treatment:
Remove pressure from the joint to allow normal development.
Physiotherapy.
Self-limiting if treated promptly.
Radiology:
X-rays show a flattened femoral head.
In untreated cases, the femoral head may fragment.
Q: How does slipped upper femoral epiphysis (SUFE) present and what is the treatment?
Presentation:
Seen in obese male adolescents.
Pain referred to the knee.
Limitation of internal rotation is common.
Knee pain may be present 2 months before hip slippage.
Bilateral in 20% of cases.
Treatment:
Bed rest and non-weight bearing.
Aim to avoid avascular necrosis.
Severe slippage may require percutaneous pinning of the hip.
Radiology:
X-rays show femoral head displaced inferolaterally (like a melting ice cream cone).
The Southwick angle indicates disease severity.
Q: What are the early signs of necrotising enterocolitis and how is it treated?
Presentation: Abdominal distension, bloody stools, pneumatosis intestinalis on X-ray.
Treatment: Total gut rest, TPN, and laparotomy for perforations.
Q: What is an umbilical hernia, its incidence, and management?
Incidence:
Up to 20% of neonates, especially premature infants.
Management:
Most hernias close spontaneously between 12 months to 3 years.
Strangulation is rare and usually doesn’t occur.
Q: What is omphalitis, its causes, and treatment?
Cause:
Infection of the umbilicus, often caused by Staphylococcus aureus.
Risks:
Infection can spread quickly through umbilical vessels, causing portal pyaemia and portal vein thrombosis.
Treatment:
Topical and systemic antibiotics.
Q: What is a paraumbilical hernia and how does it differ from an umbilical hernia?
Paraumbilical Hernia:
Caused by defects in the linea alba near the umbilicus.
The edges are more defined than in an umbilical hernia.
Management:
Less likely to resolve spontaneously compared to an umbilical hernia.
Q: What is an umbilical granuloma, and how is it treated?
Presentation:
Cherry-red lesions around the umbilicus that may bleed and discharge seropurulent material.
Infection is rare.
Treatment:
Chemical cautery with silver nitrate (topically applied).
Q: What is persistent urachus and how does it present?
Persistent Urachus:
Results in urinary discharge from the umbilicus.
Caused by the persistence of the urachus, which connects to the bladder.
Associations:
Often linked with other urogenital abnormalities.
Q: What is persistent vitello-intestinal duct and how does it present?
Persistent Vitello-Intestinal Duct:
May present with umbilical discharge containing small bowel contents.
Types:
Complete persistence is rare; partial persistence leads to Meckel’s diverticulum.
Management:
Best imaged using contrast studies.
Laparotomy and surgical closure are required for treatment.
Q: What changes may be seen on an x-ray in the early and later stages of Perthes’ disease?
Early: Widening of the joint space.
Later: Decreased femoral head size or flattening.
Q: What is the typical age range for children affected by Perthes’ disease?
A: Perthes’ disease typically affects children between the ages of 4-8 years.
Q: What imaging techniques are used to diagnose Perthes’ disease?
A: Diagnosis is typically made with a plain x-ray, followed by a technetium bone scan or MRI if x-ray results are normal and symptoms persist.
Q: What are the common symptoms of Perthes’ disease?
A: Common symptoms include hip pain (progressive over weeks), limp, and stiffness/reduced range of hip movement.
Q: What is Perthes’ disease?
A: Perthes’ disease is a degenerative condition in children, caused by avascular necrosis of the femoral head, leading to impaired blood supply and bone infarction.
Q: What are some possible complications of Perthes’ disease?
A: Complications may include osteoarthritis and premature fusion of the growth plates, leading to hip deformities.
Q: How is Perthes’ disease typically managed in children under 6 years?
A: For children under 6, observation is often recommended, as the disease may resolve with conservative management.
Q: What is the Catterall staging system used for in Perthes’ disease?
A: The Catterall staging system is used to assess the severity of Perthes’ disease based on clinical and radiological findings.
Q: What treatment is recommended for older children with Perthes’ disease?
A: For older children, surgical intervention may be necessary, particularly in cases of severe deformity.
Q: What is the normal heart rate range for an infant under 1 year of age?
A: The normal heart rate for infants under 1 year is 110 - 160 beats per minute.
Q: What are the main goals of treatment for Perthes’ disease?
A: The primary goal is to keep the femoral head within the acetabulum to prevent deformity.
Q: What is the normal respiratory rate for an infant under 1 year of age?
A: The normal respiratory rate for infants under 1 year is 30 - 40 breaths per minute.
Q: What are the common causes of PDA?
A: PDA is more common in premature babies, those born at high altitudes, and those with maternal rubella infection in the first trimester.
Q: What is Patent Ductus Arteriosus (PDA)?
A: PDA is a congenital heart defect characterized by the persistence of the ductus arteriosus, a connection between the pulmonary trunk and the descending aorta.
Q: How does the ductus arteriosus typically close after birth?
A: The ductus arteriosus typically closes after birth due to increased pulmonary flow, which enhances the clearance of prostaglandins.
Q: What is the preferred technique for PDA closure in term infants and children?
A: Transcatheter PDA closure, as pharmacological therapy (ibuprofen/indomethacin) is not effective in term infants.
Q: What are common clinical features of PDA?
Left subclavicular thrill
Continuous ‘machinery’ murmur
Large volume, bounding, collapsing pulse
Wide pulse pressure
Heaving apex beat
Q: When is prostaglandin E1 used in the management of PDA?
A: Prostaglandin E1 is used to keep the duct open until after surgical repair, particularly when PDA is associated with another congenital heart defect that requires surgery.
Q: What is the first-line management for preterm infants with PDA?
A: Initial expectant supportive care, as spontaneous closure often occurs. If PDA remains or the infant is ventilator-dependent after one week, pharmacologic closure is recommended.
Q: What medications are commonly used for pharmacologic closure of PDA in preterm infants?
A: Ibuprofen, indomethacin, or paracetamol, which inhibit prostaglandin synthesis.
Q: What is Phenylketonuria (PKU)?
A: PKU is an autosomal recessive condition caused by a defect in phenylalanine metabolism, typically due to a deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine.
Q: What is the result of untreated PKU?
A: High levels of phenylalanine can lead to learning difficulties, seizures (typically infantile spasms), developmental delay, and other neurological issues.
Q: At what age does PKU usually present?
A: PKU typically presents by 6 months of age, often with developmental delay.
Q: What is a classic feature of PKU related to body odor?
A: A ‘musty’ odor to urine and sweat, which is due to phenylacetate, a phenylketone.
Q: How is PKU managed?
A: Strict dietary restrictions are important, particularly during pregnancy to prevent high maternal phenylalanine levels from affecting the fetus. While a strict diet may not prevent learning disabilities, it remains a key part of management.
Q: What enzyme is deficient in most cases of PKU?
A: Most cases of PKU are due to a deficiency of phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine.
Q: What is the recommended approach for non-retractile foreskin or ballooning during micturition in children under 2 years of age?
A: The British Association of Paediatric Urologists recommends an expectant approach, as this may be physiological phimosis that will resolve with time. Forcible retraction should be avoided to prevent scar formation.
Q: When can treatment for phimosis be considered in children over 2 years of age?
A: Treatment can be considered if the child experiences recurrent balanoposthitis or urinary tract infections.
Q: What antibiotic should be used in pneumonia associated with influenza?
A: Co-amoxiclav is recommended in pneumonia associated with influenza.
Q: What is the first-line treatment for pneumonia in children?
A: Amoxicillin is first-line for all children with pneumonia.
Flashcard 2: Q: What is the main characteristic of episodic viral wheeze?
A: Wheeze occurs only during a viral upper respiratory tract infection (URTI) and is symptom-free between episodes.
Flashcard 1: Q: What are the two classifications of pre-school wheeze in children?
Episodic viral wheeze
Multiple trigger wheeze
Flashcard 3: Q: Is episodic viral wheeze associated with an increased risk of asthma later in life?
A: No, it is not associated with an increased risk of asthma later in life.
Q: When should macrolides be added to the treatment for pneumonia in children?
A: Macrolides may be added if there is no response to first-line therapy or if mycoplasma or chlamydia infection is suspected.
Q: What is the most likely causative agent of bacterial pneumonia in children?
A: Streptococcus pneumoniae is the most likely causative agent of bacterial pneumonia in children.
Q: What are the causes of pulmonary hypoplasia?
A: Oligohydramnios and congenital diaphragmatic hernia.
Flashcard 4: Q: What triggers multiple trigger wheeze?
A: Wheezing is triggered by viral URTIs, exercise, allergens, cigarette smoke, etc.
Flashcard 5: Q: What is the potential long-term outcome for children with multiple trigger wheeze?
A: They may develop asthma later in life.
Flashcard 6: Q: What is the first-line treatment for episodic viral wheeze in children?
A: Short-acting beta-2 agonists (e.g., salbutamol) or anticholinergic via a spacer.
Flashcard 7: Q: What are the next treatment options for episodic viral wheeze if symptoms persist?
A: Intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both.
Flashcard 9: Q: How is multiple trigger wheeze managed?
A: Trial of inhaled corticosteroids or leukotriene receptor antagonist (montelukast) for 4-8 weeks.
Q: What is the definition of precocious puberty?
A: Precocious puberty is the development of secondary sexual characteristics before 8 years in females and 9 years in males. It is more common in females.
Q: What are common features of Prader-Willi syndrome?
Hypotonia during infancy
Dysmorphic features
Short stature
Hypogonadism and infertility
Learning difficulties
Childhood obesity
Behavioral problems in adolescence
Q: What are the common causes of precocious puberty in males and females?
Males: Rare, usually due to an organic cause.
Bilateral testes enlargement: gonadotrophin release from intracranial lesion
Unilateral testes enlargement: gonadal tumor
Small testes: adrenal cause (tumor or adrenal hyperplasia)
Females: Usually idiopathic or familial and follows the normal sequence of puberty.
Q: What are the two types 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).
Q: What are the organic causes of precocious puberty?
A: Organic causes are rare but may be associated with rapid onset, neurological symptoms, and dissonance, e.g., McCune-Albright syndrome.
Q: What is the first sign of puberty in males?
A: Testicular growth around 12 years of age.
Q: What is pulmonary hypoplasia?
A: A term used for newborn infants with underdeveloped lungs.
Q: When does pyloric stenosis typically present?
A: In the second to fourth weeks of life with vomiting, although it may rarely present later up to four months.
Q: What is the first sign of puberty in females?
A: Breast development around 11.5 years of age.
Q: What testicular volume indicates the onset of puberty in males?
A: A testicular volume > 4 ml.
Q: What causes pyloric stenosis?
A: Hypertrophy of the circular muscles of the pylorus.
Q: What are the features of pyloric stenosis?
A: Projectile vomiting typically 30 minutes after a feed, constipation, dehydration, a palpable mass in the upper abdomen, and hypochloraemic, hypokalaemic alkalosis.
Q: How is the diagnosis of pyloric stenosis most commonly made?
A: By ultrasound.
Q: What are the management options for retinoblastoma?
A: Depending on the tumor’s advancement, options include enucleation, external beam radiation therapy, chemotherapy, and photocoagulation.
Q: At what age do reflex anoxic seizures typically occur?
A: In young children aged 6 months to 3 years.
Q: What is the management for pyloric stenosis?
A: Ramstedt pyloromyotomy.
Q: What are the typical features of a reflex anoxic seizure?
A: The child goes very pale, falls to the floor, secondary anoxic seizures are common, and there is rapid recovery.
Q: What is rickets?
A: Rickets is a condition characterized by inadequately mineralized, soft, and easily deformed bones in developing and growing children, usually due to vitamin D deficiency.
Q: What is a reflex anoxic seizure?
A: A syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli, caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes.
Q: What is Roseola Infantum also known as?
A: Exanthem subitum, occasionally sixth disease.
Q: What are the possible features of retinoblastoma?
A: Absence of red-reflex, replaced by a white pupil (leukocoria), strabismus, and visual problems.
Q: What are the predisposing factors for rickets?
A: Dietary deficiency of calcium, prolonged breastfeeding, unsupplemented cow’s milk formula, and lack of sunlight.
Q: What is retinoblastoma?
A: The most common ocular malignancy found in children, typically diagnosed around 18 months of age.
Q: What are the typical investigation findings in rickets?
A: Low vitamin D levels, reduced serum calcium, and raised alkaline phosphatase.
Q: What causes Roseola Infantum?
A: Human herpes virus 6 (HHV6).
Q: What are the features of rickets?
A: Aching bones and joints, lower limb abnormalities (genu varum in toddlers and genu valgum in older children), ‘rickety rosary’ (swelling at the costochondral junction), kyphoscoliosis, craniotabes (soft skull bones), and Harrison’s sulcus.
Q: What is the adult equivalent of rickets?
A: Osteomalacia.
Q: What is the management for rickets?
A: Oral vitamin D.
Q: What age group is typically affected by Roseola Infantum?
A: Children aged 6 months to 2 years.
Q: What are the features of Roseola Infantum?
A: High fever lasting a few days, followed by a maculopapular rash, Nagayama spots (papular enanthem on the uvula and soft palate), febrile convulsions (10-15%), diarrhoea, and cough.
Q: What type of vaccine is the Rotavirus vaccine?
A: An oral, live attenuated vaccine.
Q: What happens later in the course of Scarlet fever?
A: Desquamination, particularly around the fingers and toes.
Q: What are the typical initial symptoms of Scarlet fever?
A: Fever, malaise, headache, nausea/vomiting, sore throat, ‘strawberry’ tongue.
Q: What is the first-line treatment for Scarlet fever?
A: Oral penicillin V for 10 days.
Q: What is Rotavirus?
A: A major public health problem causing significant morbidity and hospital admissions in the developed world and childhood mortality in the developing world.
Q: Describe the rash associated with Scarlet fever.
A: Fine punctate erythema (‘pinhead’) appearing first on the torso, sparing the palms and soles, rough ‘sandpaper’ texture, often more obvious in the flexures, children often have a flushed appearance with circumoral pallor.
Q: What are Nagayama spots?
A: Papular enanthem on the uvula and soft palate.
Q: How is Scarlet fever diagnosed?
A: A throat swab is normally taken, but antibiotic treatment should be commenced immediately.
Q: What conditions do not require school exclusion according to Health Protection Agency guidance?
A: Conjunctivitis, Fifth disease (slapped cheek), Roseola, Infectious mononucleosis, Head lice, Threadworms, Hand, foot, and mouth.
Q: What causes Scarlet fever?
A: A reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes).
Q: When can a child with Mumps return to school?
A: 5 days from onset of swollen glands.
Q: At what ages should the Rotavirus vaccine doses be given?
A: The first dose at 2 months and the second dose at 3 months.
Q: How is Scarlet fever spread?
A: Via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges.
Q: What should be given to patients with a penicillin allergy for Scarlet fever?
A: Azithromycin.
Q: When can children return to school after starting antibiotics for Scarlet fever?
A: 24 hours after commencing antibiotics.
Q: What are common complications of Scarlet fever?
A: Otitis media, rheumatic fever, acute glomerulonephritis.
Q: Is Scarlet fever a notifiable disease?
A: Yes.
Q: What are rare but serious complications of Scarlet fever?
A: Invasive complications like bacteraemia, meningitis, necrotizing fasciitis.
Q: How long should a child with Scarlet fever be excluded from school?
A: 24 hours after commencing antibiotics.
Q: How long should a child with Whooping cough be excluded from school?
A: 2 days after commencing antibiotics or 21 days from onset of symptoms if no antibiotics.
Q: When should a child with Measles return to school?
A: 4 days from onset of rash.
Q: When should a child with Rubella return to school?
A: 5 days from onset of rash.
Q: When should a child with Chickenpox return to school?
A: All lesions should be crusted over, or 5 days from onset of rash.
Q: What is the official advice regarding school exclusion for Chickenpox?
A: Children should be excluded until all lesions are crusted over. Public Health England advises exclusion for 5 days after onset of rash, with the understanding that all lesions must be crusted over before returning to school.
Q: When can a child with Impetigo return to school?
A: Until lesions are crusted and healed, or 48 hours after commencing antibiotic treatment.
Q: How long should a child with Diarrhoea & vomiting be excluded from school?
A: Until symptoms have settled for 48 hours.
Q: When can a child with Influenza return to school?
A: Until recovered.
Q: When should a child with Scabies return to school?
A: Until treated.
Q: What is the typical presentation of Seborrhoeic dermatitis in children?
A: It typically affects the scalp (‘Cradle cap’), nappy area, face, and limb flexures.
Q: What is the characteristic appearance of Cradle cap?
A: It is characterized by an erythematous rash with coarse yellow scales.
Q: What is the management for Seborrhoeic dermatitis in children?
A: Reassurance, topical emollient massage on the scalp to loosen scales, gentle brushing with a soft brush, and washing off with shampoo.
Q: What treatment may be tried for severe or persistent cases of Seborrhoeic dermatitis?
A: A topical imidazole cream may be used for severe or persistent cases.
Q: What are the symptoms of septic arthritis in children?
A: Joint pain, limp, fever, and systemic illness (lethargy).
Q: What are the most commonly affected joints in septic arthritis in children?
A: The hip, knee, and ankle are the most commonly affected joints.
Q: When does Seborrhoeic dermatitis in children typically resolve?
A: It tends to resolve spontaneously by around 8 months of age.
Q: What investigations are used for septic arthritis in children?
A: Joint aspiration for culture (will show raised WBC), raised inflammatory markers, and blood cultures.
Q: What are the signs of septic arthritis in children?
A: Swollen, red joint with typically minimal movement of the affected joint.
Q: What are the Kocher criteria for diagnosing septic arthritis in children?
A: Fever >38.5°C, non-weight bearing, raised ESR, and raised WCC.
Q: What is the possible reason for the increased incidence of plagiocephaly?
A: The increase in incidence may be due to the success of the ‘Back to Sleep’ campaign, which encourages infants to sleep on their backs.
Q: What is slipped capital femoral epiphysis (SCFE)?
A: SCFE is a rare hip condition seen in children, characterized by the postero-inferior displacement of the femoral head epiphysis, typically seen in obese boys aged 10-15 years.
Q: What is plagiocephaly?
A: Plagiocephaly is a condition where the head has a parallelogram-shaped appearance due to positional molding.
Q: What are the common features of slipped capital femoral epiphysis?
A: Hip, groin, medial thigh or knee pain, loss of internal rotation of the leg in flexion, and in 20% of cases, a bilateral slip.
Q: What is the triad of symptoms in shaken baby syndrome?
A: The triad includes retinal hemorrhages, subdural hematoma, and encephalopathy.
Q: What is craniosynostosis?
A: Craniosynostosis is the premature fusion of skull bones, which can lead to abnormal head shapes and potentially developmental issues.
Q: How is slipped capital femoral epiphysis diagnosed?
A: Diagnosis is typically made through AP and lateral (frog-leg) X-ray views.
Q: What is the management for slipped capital femoral epiphysis?
A: The management involves internal fixation, typically with a single cannulated screw placed in the center of the epiphysis.
Q: What are the complications of slipped capital femoral epiphysis?
A: Complications include osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.
Q: What are the common causes of snoring in children?
A: Common causes include obesity, nasal problems (such as polyps, deviated septum, hypertrophic nasal turbinates), recurrent tonsillitis, Down’s syndrome, and hypothyroidism.
Q: What is a common cause of stridor in children and its characteristic features?
A: Croup, characterized by stridor caused by laryngeal oedema and secretions, with symptoms including a barking cough (worse at night), fever, and coryzal symptoms. It typically affects infants and toddlers, with a peak incidence between 6 months and 3 years.
Q: What is acute epiglottitis, and how does it present?
A: Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B, presenting with rapid onset, stridor, drooling of saliva, and a toxic child. It generally occurs in children between 2 and 6 years and can cause airway obstruction.
Q: What are the features of an inhaled foreign body causing stridor?
A: Symptoms of sudden onset, including coughing, choking, vomiting, and stridor, depending on the site of impaction.
Q: What is laryngomalacia, and how does it present in infants?
A: Laryngomalacia is a congenital abnormality of the larynx, with infants typically presenting at 4 weeks of age with stridor.
Q: What is the commonest cause of death in the first year of life, and at what age is it most common?
A: Sudden Infant Death Syndrome (SIDS), most common at 3 months of age.
Q: What are major risk factors for Sudden Infant Death Syndrome?
A: Prone sleeping, parental smoking, prematurity, bed sharing, and hyperthermia or head covering.
Q: How much does parental smoking increase the risk of Sudden Infant Death Syndrome?
A: Parental smoking increases the risk up to 5 times.
Q: What are some protective factors for Sudden Infant Death Syndrome?
A: Breastfeeding, room sharing (but not bed sharing), and the use of pacifiers (dummies).
Q: What is Surfactant Deficient Lung Disease (SDLD) also known as?
A: Respiratory distress syndrome, previously hyaline membrane disease.
Q: What are other risk factors for Surfactant Deficient Lung Disease?
A: Male sex, diabetic mothers, Caesarean section, and second born of premature twins.
Q: What are the clinical features of Surfactant Deficient Lung Disease?
A: Tachypnoea, intercostal recession, expiratory grunting, and cyanosis.
Q: What is the characteristic finding on a chest x-ray in SDLD?
A: Ground-glass appearance with an indistinct heart border.
Q: What is the management for Surfactant Deficient Lung Disease?
A: Maternal corticosteroids to induce fetal lung maturation, oxygen, assisted ventilation, and exogenous surfactant via endotracheal tube.
Q: What is Tetralogy of Fallot (TOF)?
A: The most common cause of cyanotic congenital heart disease, typically presenting at 1-2 months.
Q: What are the four characteristic features of Tetralogy of Fallot?
A: Ventricular septal defect (VSD), right ventricular hypertrophy, right ventricular outflow tract obstruction (pulmonary stenosis), and overriding aorta.
Q: What determines the degree of cyanosis and clinical severity in Tetralogy of Fallot?
A: The severity of the right ventricular outflow tract obstruction.
Q: What are other features of Tetralogy of Fallot?
A: Cyanosis, episodic hypercyanotic ‘tet’ spells, tachypnoea, severe cyanosis, loss of consciousness, right-to-left shunt, ejection systolic murmur, right-sided aortic arch (in 25%), boot-shaped heart on chest x-ray, and right ventricular hypertrophy on ECG.
Q: What is a ‘tet’ spell and when does it typically occur?
A: A hypercyanotic episode due to near occlusion of the right ventricular outflow tract, typically occurring when an infant is upset, in pain, or has a fever.
Q: What is the management for Tetralogy of Fallot?
A: Surgical repair (often in two parts), and cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm.
Q: What is threadworm infestation?
A: An infestation with Enterobius vermicularis (pinworms), common among children in the UK, occurring after swallowing eggs present in the environment.
Q: What are the possible symptoms of threadworm infestation?
A: Perianal itching, particularly at night, and vulval symptoms in girls. However, the infestation is asymptomatic in about 90% of cases.
Q: How is threadworm infestation diagnosed?
A: Diagnosis can be made by applying Sellotape to the perianal area and examining it under a microscope to detect the eggs. Most patients are treated empirically.
Q: What is the recommended management for threadworms?
A: A combination of anthelmintics and hygiene measures for all household members.
Q: What is the first-line treatment for threadworm infestation in children?
A: Mebendazole for children older than 6 months, typically given as a single dose unless the infestation persists.
Q: What are the typical features of transient synovitis?
A: Limp or refusal to weight bear, groin or hip pain, and a low-grade fever in some cases. High fever suggests other causes like septic arthritis.
Q: What is transient synovitis?
A: Transient synovitis, also known as irritable hip, is the most common cause of hip pain in children, typically following a recent viral infection.
Q: What is transient tachypnoea of the newborn (TTN)?
A: TTN is the most common cause of respiratory distress in the newborn period, caused by delayed resorption of fluid in the lungs.
Q: What might a chest x-ray show in a baby with TTN?
A: Hyperinflation of the lungs and fluid in the horizontal fissure.
Q: What is a risk factor for transient tachypnoea of the newborn?
A: TTN is more common following caesarean sections, as the lung fluid may not be ‘squeezed out’ during passage through the birth canal.
Q: How does NICE help exclude septic arthritis in children with a limp?
A: Fever is a red flag indicating the need for urgent specialist assessment. Children aged 3-9 years who are well, afebrile, mobile but limping for less than 72 hours can be monitored with a presumptive diagnosis of transient synovitis.
Q: What age group is most affected by transient synovitis?
A: The typical age group is 3-8 years.
Q: How is transient tachypnoea of the newborn managed?
A: It typically requires observation and supportive care. Supplementary oxygen may be needed to maintain oxygen saturations.
Q: What is transposition of the great arteries (TGA)?
A: TGA is a form of cyanotic congenital heart disease caused by the failure of the aorticopulmonary septum to spiral during septation.
Q: What does the chest x-ray of a child with TGA show?
A: An ‘egg-on-side’ appearance.
Q: What are the basic anatomical changes in transposition of the great arteries?
A: The aorta leaves the right ventricle, and the pulmonary trunk leaves the left ventricle.
Q: How long does transient tachypnoea of the newborn last?
A: TTN usually resolves within 1-2 days.
Q: What are common clinical features of transposition of the great arteries?
A: Cyanosis, tachypnoea, loud single S2, prominent right ventricular impulse.
Q: How is transposition of the great arteries managed?
A: Maintenance of the ductus arteriosus with prostaglandins, followed by surgical correction as the definitive treatment.
Q: What is anticipation in the context of trinucleotide repeat disorders?
A: Anticipation refers to the phenomenon where the number of repeats enlarges over generations, leading to an earlier onset of symptoms and increased severity.
Q: What are trinucleotide repeat disorders?
A: Trinucleotide repeat disorders are genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of three nucleotides.
Q: What are the key features of Turner’s syndrome?
Short stature
Shield chest, widely spaced nipples
Webbed neck
Bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
Increased risk of aortic dilatation and dissection
Primary amenorrhoea
Cystic hygroma (often diagnosed prenatally)
High-arched palate
Short fourth metacarpal
Multiple pigmented naevi
Lymphoedema in neonates (especially feet)
Elevated gonadotrophin levels
Hypothyroidism
Horseshoe kidney (most common renal abnormality)
Q: What are some examples of tumour suppressor genes and their associated cancers?
p53: Common to many cancers, Li-Fraumeni syndrome
APC: Colorectal cancer
BRCA1 & BRCA2: Breast and ovarian cancer (also increased risk of breast and prostate cancer in men)
NF1: Neurofibromatosis
Rb: Retinoblastoma
WT1: Wilm’s tumour
Multiple tumor suppressor 1 (MTS-1, p16): Melanoma
Q: What is Turner’s syndrome?
A: Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes, denoted as 45,XO or 45,X.
Q: What are some examples of trinucleotide repeat disorders?
Fragile X (CGG)
Huntington’s (CAG)
Myotonic dystrophy (CTG)
Friedreich’s ataxia (GAA)
Spinocerebellar ataxia
Spinobulbar muscular atrophy
Dentatorubral pallidoluysian atrophy
Q: What are the most serious long-term health problems for women with Turner’s syndrome?
A: The most serious long-term health problems include an increased risk of aortic dilatation and dissection.
Q: What are some common additional issues in Turner’s syndrome?
A: There is an increased incidence of autoimmune diseases, especially autoimmune thyroiditis, and Crohn’s disease.
Q: How is unilateral undescended testis managed?
A: Referral should be considered from around 3 months of age, with the child ideally seeing a urological surgeon before 6 months. Orchidopexy is typically performed at around 1 year of age.
Q: What is an umbilical hernia in children?
A: An umbilical hernia is a relatively common condition in children where a small bulge occurs at the belly button. It is often found during the newborn exam.
Q: Do umbilical hernias in children require treatment?
A: No treatment is usually required as umbilical hernias typically resolve by 3 years of age.
Q: What are the complications of undescended testis?
Infertility
Torsion
Testicular cancer
Psychological effects
Q: How is bilateral undescended testis managed?
A: Bilateral undescended testis should be reviewed by a senior paediatrician within 24 hours as the child may need urgent endocrine or genetic investigation.
Q: What is the most common causative organism of urinary tract infections (UTIs) in children?
A: E. coli is responsible for around 80% of UTIs in children.
Q: What is vesicoureteric reflux, and how is it related to UTIs in children?
A: Vesicoureteric reflux is a developmental anomaly found in around 35% of children who present with a UTI. It involves the abnormal backflow of urine from the bladder to the kidneys.
Q: How do UTIs present differently in children based on age?
Infants: Poor feeding, vomiting, irritability
Younger children: Abdominal pain, fever, dysuria
Older children: Dysuria, frequency, haematuria
Q: What features may suggest an upper UTI in children?
Temperature > 38ºC
Loin pain/tenderness
Q: What are the NICE guidelines for testing urine in children?
The urine sample should be tested if:
There are symptoms or signs suggestive of a UTI
There is unexplained fever of 38°C or higher (test urine after 24 hours)
There is an alternative site of infection but the child remains unwell (consider urine test after 24 hours)
Q: What is the preferred method of urine collection in children?
A: Clean catch is the preferred method. If not possible, urine collection pads should be used. Cotton wool balls, gauze, and sanitary towels are not suitable.
Q: What are the management guidelines for infants and children with UTIs?
Infants less than 3 months old: Refer immediately to a paediatrician
Children > 3 months with an upper UTI: Consider hospital admission or oral antibiotics (cephalosporin or co-amoxiclav) for 7-10 days
Children > 3 months with a lower UTI: Oral antibiotics (trimethoprim, nitrofurantoin, cephalosporin, or amoxicillin) for 3 days, with follow-up if symptoms persist
Antibiotic prophylaxis: Not given after the first UTI but considered for recurrent UTIs
Q: What is vesicoureteric reflux (VUR)?
A: Vesicoureteric reflux is the abnormal backflow of urine from the bladder into the ureter and kidney. It predisposes to urinary tract infection (UTI) and is found in around 30% of children with a UTI.
Q: What are the possible presentations of vesicoureteric reflux?
Antenatal period: Hydronephrosis on ultrasound
Recurrent childhood urinary tract infections
Reflux nephropathy (chronic pyelonephritis secondary to VUR)
Renal scar causing increased renin, leading to hypertension
Q: How is vesicoureteric reflux diagnosed?
A: VUR is diagnosed through a micturating cystourethrogram (MCUG). A DMSA scan may also be performed to look for renal scarring, typically located at the upper and lower poles with cortical thinning.
Q: What causes whooping cough (pertussis)?
A: Whooping cough is caused by the Gram-negative bacterium Bordetella pertussis.
Q: Why is vaccination for pregnant women important?
A: Newborn infants are particularly vulnerable to whooping cough, which is why a vaccination campaign for pregnant women was introduced to protect newborns.
Q: What are the three phases of whooping cough?
Catarrhal phase: Symptoms similar to a viral upper respiratory infection, lasting 1-2 weeks.
Paroxysmal phase: Severe coughing bouts, often worse at night and after feeding, may end with vomiting and central cyanosis, lasting 2-8 weeks.
Convalescent phase: The cough subsides over weeks to months.
Q: What diagnostic criteria suggest whooping cough?
Acute cough lasting 14 days or more with one or more of the following:
Paroxysmal cough
Inspiratory whoop
Post-tussive vomiting
Undiagnosed apnoeic attacks in young infants
Q: How is whooping cough diagnosed?
A: Diagnosis is made by nasal swab culture for Bordetella pertussis (which may take several days), PCR, or serology.
Q: What is the management for whooping cough in infants?
A: Infants under 6 months with suspected pertussis should be admitted. Antibiotics like macrolides (clarithromycin, azithromycin, or erythromycin) are given if the cough started within the previous 21 days to eradicate the organism and reduce spread. Household contacts should receive antibiotic prophylaxis.
Q: What are the complications of whooping cough?
A: Subconjunctival haemorrhage, pneumonia, bronchiectasis, and seizures.
Q: What is the vaccination programme for pregnant women?
A: Pregnant women between 16-32 weeks gestation are offered the whooping cough vaccine, which is over 90% effective in preventing newborns from developing the disease.
Q: What causes William’s syndrome?
A: William’s syndrome is caused by a microdeletion on chromosome 7.
Q: What are the key features of William’s syndrome?
Elfin-like facies
Characteristic personality: very friendly and social
Learning difficulties
Short stature
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Q: What is Wilms’ tumour?
A: Wilms’ tumour (nephroblastoma) is one of the most common childhood malignancies, typically presenting in children under 5 years of age, with a median age of 3 years.
Q: What are the common features of Wilms’ tumour?
Abdominal mass (most common presenting feature)
Painless haematuria
Flank pain
Other features: anorexia, fever
95% of cases are unilateral
Metastases in 20% of patients, most commonly in the lungs.
Q: How should a child with an unexplained abdominal mass be managed?
A: Children with an unexplained enlarged abdominal mass should be referred for paediatric review within 48 hours as Wilms’ tumour is a possibility.
Q: What is the management for Wilms’ tumour?
Nephrectomy
Chemotherapy
Radiotherapy if the disease is advanced.
Child < 3 with limp management
admit
Investigation for necrotising enterocolitis
x ray
Management for baby who is gagging and choking on feeds
- offer a trial of smaller, more frequent feeds (while maintaining an appropriate total daily amount of milk) unless the feeds are already small and frequent, then
- offer a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum).
- In breast-fed infants with frequent regurgitation associated with marked distress that continues despite a breastfeeding assessment and advice, consider alginate therapy for a trial period of 1 to 2 weeks. If the alginate therapy is successful continue with it, but try stopping it at intervals to see if the infant has recovered.
What is Juvenile myoclonic epilepsy
a form of childhood epilepsy characterised by myoclonic and generalised tonic-clonic seizures, typically occurring when the child is sleep-deprived and not during sleep itself. Some children also have absence seizures.
When assessing milestones for premature babies, how should you adjust
add however many weeks they are premature by from 40 weeks
What do you give for resuscitation fluids for a kid
bolus of 10 ml/kg over less than 10 minutes
In neonatal hypoglycaemia, if they are asymptomatic but have glucose <1 what do you do
admit and IV 10% dextrose
When a child presents with delayed puberty, what is the first exam you should do
bone age x ray
investigation for retinoblastoma
US
