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  • Question 1 - A 3-month-old infant is presented to the emergency department with abdominal distension and...

    Incorrect

    • A 3-month-old infant is presented to the emergency department with abdominal distension and tenderness. The parents report observing a small amount of blood in the diaper and some bilious vomit. They have also noticed reduced movement and difficulty feeding over the past few days. The infant was born prematurely at 29 weeks after premature rupture of membranes. What investigation is most likely to provide a diagnosis?

      Your Answer: Abdominal ultrasound scan

      Correct Answer: Abdominal x-ray

      Explanation:

      The definitive test for diagnosing necrotising enterocolitis is an abdominal x-ray. If the x-ray shows pneumatosis intestinalis (gas in the gut wall), it confirms the presence of NEC. Treatment involves stopping oral feeds, providing barrier nursing, and administering antibiotics such as cefotaxime and vancomycin. In severe cases, a laparotomy may be necessary, but this is a poor prognostic indicator and is not performed for diagnostic purposes. While a stool culture is often performed in cases of NEC, it is not a definitive test. It is important not to confuse NEC with intussusception, which typically affects older children (5-12 months) and presents with a distended abdomen and the passage of red currant jelly stool. In such cases, an ultrasound scan is usually the initial investigation and will show a target sign. A digital rectal exam is not a diagnostic test and only confirms the presence of feces in the rectum.

      Understanding Necrotising Enterocolitis

      Necrotising enterocolitis is a serious condition that is responsible for a significant number of premature infant deaths. The condition is characterized by symptoms such as feeding intolerance, abdominal distension, and bloody stools. If left untreated, these symptoms can quickly progress to more severe symptoms such as abdominal discolouration, perforation, and peritonitis.

      To diagnose necrotising enterocolitis, doctors often use abdominal x-rays. These x-rays can reveal a number of important indicators of the condition, including dilated bowel loops, bowel wall oedema, and intramural gas. Other signs that may be visible on an x-ray include portal venous gas, pneumoperitoneum resulting from perforation, and air both inside and outside of the bowel wall. In some cases, an x-ray may also reveal air outlining the falciform ligament, which is known as the football sign.

      Overall, understanding the symptoms and diagnostic indicators of necrotising enterocolitis is crucial for early detection and treatment of this serious condition. By working closely with healthcare professionals and following recommended screening protocols, parents and caregivers can help ensure the best possible outcomes for premature infants at risk for this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - The mother of a 3-year-old child is worried about her child's developmental progress....

    Correct

    • The mother of a 3-year-old child is worried about her child's developmental progress. Upon assessment, you observe that the child can only build a tower of five blocks at most and can only speak in two to three-word phrases. What is the typical age range for a healthy child to achieve these developmental milestones?

      Your Answer: 2 œ years

      Explanation:

      Developmental Delay in Children

      Developmental delay in children can be a cause for concern, especially when they fail to meet certain milestones at their age. For instance, a 4-year-old child should be able to speak in full sentences, play interactively, and build structures with building blocks. However, when a child exhibits a degree of developmental delay, it could be due to various factors such as neurological and neurodevelopmental problems like cerebral palsy and epilepsy, unmet physical and psychological needs, sensory impairment, genetic conditions like Down’s syndrome, and ill health.

      It is important to understand the causes of developmental delay in children to provide appropriate interventions and support. Parents and caregivers should observe their child’s development and seek professional help if they notice any delays or abnormalities. Early intervention can help address developmental delays and improve a child’s overall well-being. By the factors that contribute to developmental delay, we can work towards creating a supportive environment that promotes healthy growth and development in children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A female infant is born prematurely at 32 weeks gestation by emergency cesarean...

    Correct

    • A female infant is born prematurely at 32 weeks gestation by emergency cesarean section. She initially appears to be stable. However, over the ensuing 48 hours she develops worsening neurological function. What is the most probable cause of this deterioration?

      Your Answer: Intraventricular haemorrhage

      Explanation:

      Understanding Intraventricular Haemorrhage

      Intraventricular haemorrhage is a rare condition that involves bleeding into the ventricular system of the brain. While it is typically associated with severe head injuries in adults, it can occur spontaneously in premature neonates. In fact, the majority of cases occur within the first 72 hours after birth. The exact cause of this condition is not well understood, but it is believed to be a result of birth trauma and cellular hypoxia in the delicate neonatal central nervous system.

      Treatment for intraventricular haemorrhage is largely supportive, as therapies such as intraventricular thrombolysis and prophylactic cerebrospinal fluid drainage have not been shown to be effective. However, if hydrocephalus and rising intracranial pressure occur, shunting may be necessary. It is important for healthcare professionals to be aware of this condition and its potential complications in order to provide appropriate care for affected patients.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - A mother presents with her 3-month-old baby boy to ask advice about his...

    Correct

    • A mother presents with her 3-month-old baby boy to ask advice about his failed newborn hearing screening. Further tests were normal; however, she has been advised to seek medical advice if she has any concerns about his hearing in the future. Which one of the following would warrant referral for a further hearing test?

      Your Answer: Not babbling or imitating sounds by the age of nine months old

      Explanation:

      Developmental Milestones for Language Acquisition in Children

      Language acquisition is an important developmental milestone in children. Here are some key markers to look out for:

      – Not babbling or imitating sounds by the age of nine months old: If a baby is not babbling or imitating sounds by this age, it could be a sign of a social, cognitive, speech, or hearing problem. A full developmental assessment would be necessary to ensure there are no other areas of delay.

      – Putting two words together by the age of 18 months old: By this age, a child should be using 50+ words and be able to put two words together. If not, a full developmental assessment would be necessary to ensure there are no other areas of delay.

      – More than 200 spoken words by the age of two years: A 30-month-old child should be using 200+ words. If not, a full developmental assessment would be necessary to ensure there are no other areas of delay.

      – Not responding to his own name by the age of six months old: By the age of one year, a child should respond to their own name. If not, a full developmental assessment would be necessary to ensure there are no other areas of delay.

      – Speaking 6-20 words by the age of one year: By the age of one, a child should be using 6-20 words. If not, a full developmental assessment would be necessary to ensure there are no other areas of delay.

      It is important to monitor a child’s language development and seek professional help if there are any concerns. Early intervention can make a significant difference in a child’s language acquisition and overall development.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 5 - Which one of the following statements regarding Perthes disease is incorrect? ...

    Correct

    • Which one of the following statements regarding Perthes disease is incorrect?

      Your Answer: Twice as common in girls

      Explanation:

      Understanding Perthes’ Disease

      Perthes’ disease is a degenerative condition that affects the hip joints of children, typically between the ages of 4-8 years. It is caused by a lack of blood supply to the femoral head, which leads to bone infarction and avascular necrosis. This condition is more common in boys, with around 10% of cases being bilateral. The symptoms of Perthes’ disease include hip pain, stiffness, reduced range of hip movement, and a limp. Early changes can be seen on an x-ray, such as widening of the joint space, while later changes include decreased femoral head size and flattening.

      To diagnose Perthes’ disease, a plain x-ray is usually sufficient. However, if symptoms persist and the x-ray is normal, a technetium bone scan or magnetic resonance imaging may be necessary. If left untreated, Perthes’ disease can lead to complications such as osteoarthritis and premature fusion of the growth plates.

      The severity of Perthes’ disease is classified using the Catterall staging system, which ranges from stage 1 (clinical and histological features only) to stage 4 (loss of acetabular integrity). Treatment options include keeping the femoral head within the acetabulum using a cast or braces, observation for children under 6 years old, and surgical management for older children with severe deformities. The prognosis for Perthes’ disease is generally good, with most cases resolving with conservative management. Early diagnosis is key to improving outcomes.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - A 5-year-old child is brought to the Emergency Department with a displaced supracondylar...

    Correct

    • A 5-year-old child is brought to the Emergency Department with a displaced supracondylar fracture. It necessitates manipulation using procedural sedation.
      What would be the most appropriate option?

      Your Answer: Midazolam

      Explanation:

      Procedural Sedation: Comparing the Benefits and Risks of Different Drugs

      Procedural sedation is a common practice in medical procedures to reduce pain and anxiety in patients. However, choosing the right drug for sedation can be challenging as each drug has its own benefits and risks. In this article, we will compare the benefits and risks of different drugs commonly used for procedural sedation.

      Midazolam is a drug used for mild to moderate pain levels. It can be administered orally or intranasally and has fewer side effects than other drugs. On the other hand, ketamine is an excellent choice for procedural sedation, especially in children. It has powerful analgesic and sedative effects and can be administered intranasally, reducing the need for invasive interventions. However, ketamine has side effects such as tachycardia, hypertension, muscle twitching, rash, laryngospasm, apnea, vomiting, and recovery agitation.

      Morphine is helpful for pain management but is not suitable for procedural sedation due to respiratory depression. Propofol is a general anesthetic agent with a longer half-life than midazolam and ketamine. It can adversely affect hemodynamic status, making midazolam a better choice for sedation. Finally, lorazepam is primarily used for managing agitation and not procedural sedation.

      In conclusion, choosing the right drug for procedural sedation requires careful consideration of the patient’s condition and the benefits and risks of each drug. Midazolam and ketamine are commonly used for procedural sedation, but each has its own benefits and risks that should be carefully evaluated before administration.

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      • Paediatrics
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  • Question 7 - What are the typical vaccines administered to adolescents aged 12-19 years? ...

    Correct

    • What are the typical vaccines administered to adolescents aged 12-19 years?

      Your Answer: Tetanus/diphtheria/polio + Men ACWY

      Explanation:

      The UK immunisation schedule recommends certain vaccines at different ages. At birth, the BCG vaccine is given if the baby is at risk of tuberculosis. At 2, 3, and 4 months, the ‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) and oral rotavirus vaccine are given, along with Men B and PCV at certain intervals. At 12-13 months, the Hib/Men C, MMR, and PCV vaccines are given, along with Men B. At 3-4 years, the ‘4-in-1 preschool booster’ (diphtheria, tetanus, whooping cough and polio) and MMR vaccines are given. At 12-13 years, the HPV vaccination is given, and at 13-18 years, the ‘3-in-1 teenage booster’ (tetanus, diphtheria and polio) and Men ACWY vaccines are given. Additionally, the flu vaccine is recommended annually for children aged 2-8 years.

      It is important to note that the meningitis ACWY vaccine has replaced meningitis C for 13-18 year-olds due to an increased incidence of meningitis W disease in recent years. The ACWY vaccine will also be offered to new students (up to the age of 25 years) at university. GP practices will automatically send letters inviting 17-and 18-year-olds in school year 13 to have the Men ACWY vaccine. Students going to university or college for the first time as freshers, including overseas and mature students up to the age of 25, should contact their GP to have the Men ACWY vaccine, ideally before the start of the academic year.

      It is worth noting that the Men C vaccine used to be given at 3 months but has now been discontinued. This is because the success of the Men C vaccination programme means there are almost no cases of Men C disease in babies or young children in the UK any longer. All children will continue to be offered the Hib/Men C vaccine at one year of age, and the Men ACWY vaccine at 14 years of age to provide protection across all age groups.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 8 - A toddler with macrosomia has had a difficult delivery, owing to shoulder dystocia....

    Correct

    • A toddler with macrosomia has had a difficult delivery, owing to shoulder dystocia. The obstetrician pulled the child’s head downwards towards the floor to disengage the anterior shoulder from below the pubic bones. When the child is having a check-up prior to discharge, the paediatrician notes that the left upper limb is adducted and medially rotated, with extension at the elbow joint. When questioned, the mother admits that the child has not been moving it.
      What is the most likely diagnosis?

      Your Answer: Erb–Duchenne palsy due to trauma to the upper trunk of the brachial plexus

      Explanation:

      Differentiating Brachial Plexus Injuries: Causes and Symptoms

      The brachial plexus is a network of nerves that originates from the spinal cord and supplies the upper limb. Trauma to this network can result in various types of injuries, each with its own set of symptoms. Here are some of the common types of brachial plexus injuries and their distinguishing features:

      Erb-Duchenne Palsy: This injury occurs due to trauma to the upper trunk of the brachial plexus, typically during obstructed labor or delivery. The affected muscles include those supplied by the musculocutaneous, radial, and axillary nerves, resulting in adduction and medial rotation of the arm, wrist drop, and sensory loss along the posterolateral aspect of the limb.

      Isolated Radial Nerve Injury: This type of injury is associated with paralysis of the wrist and digital extensors, as well as the triceps. However, medial rotation of the humerus is not affected.

      Klumpke’s Palsy: This injury is caused by trauma to the lower trunk of the brachial plexus, often during difficult delivery or sudden upward stretching of the upper limb. It results in claw hand due to damage to T1, causing paralysis of the short muscles of the hand.

      Isolated Axillary Nerve Injury: With this type of injury, the wrist extensors function normally.

      Isolated Musculocutaneous Nerve Injury: This injury is not associated with wrist drop.

      In summary, understanding the specific symptoms associated with each type of brachial plexus injury can aid in accurate diagnosis and treatment.

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      • Paediatrics
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  • Question 9 - A 7-year-old boy visits his pediatrician complaining of a dry cough that has...

    Incorrect

    • A 7-year-old boy visits his pediatrician complaining of a dry cough that has been bothering him for the past three days. The child has been experiencing intense coughing spells that make him turn blue and vomit. He had previously suffered from a cold with fever, sore throat, and a runny nose. The doctor diagnoses him with pertussis and prescribes a course of clarithromycin.

      What guidance should be provided regarding the child's return to school?

      Your Answer: Exclusion from school until the cough has resolved

      Correct Answer: Exclusion from school for 48 hours

      Explanation:

      If a child has whooping cough, they must stay away from school for 48 hours after starting antibiotics. This is because whooping cough is contagious, and it is important to prevent the spread of the disease. Additionally, during this time, the child should avoid contact with infants who have not been vaccinated.

      The Health Protection Agency has provided guidance on when children should be excluded from school due to infectious conditions. Some conditions, such as conjunctivitis, fifth disease, roseola, infectious mononucleosis, head lice, threadworms, and hand, foot and mouth, do not require exclusion. Scarlet fever requires exclusion for 24 hours after commencing antibiotics, while whooping cough requires exclusion for 2 days after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are taken. Measles requires exclusion for 4 days from onset of rash, rubella for 5 days from onset of rash, and chickenpox until all lesions are crusted over. Mumps requires exclusion for 5 days from onset of swollen glands, while diarrhoea and vomiting require exclusion until symptoms have settled for 48 hours. Impetigo requires exclusion until lesions are crusted and healed, or for 48 hours after commencing antibiotic treatment, and scabies requires exclusion until treated. influenzae requires exclusion until the child has recovered. The official advice regarding school exclusion for chickenpox has varied, but the most recent guidance suggests that all lesions should be crusted over before children return to school.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - A worried 28-year-old mother expresses concern about a lump that has emerged on...

    Correct

    • A worried 28-year-old mother expresses concern about a lump that has emerged on her infant's head, stating with certainty that it was not present at birth and was only noticed half an hour ago. The baby was delivered vaginally with forceps 10 hours ago at 39 weeks gestation.

      Upon examination, there is a clearly defined, soft swelling that does not cross suture lines and is located on the parietal bone. The baby appears to be in good health otherwise, with normal skin color and tone, as well as regular vital signs.

      What is the most probable diagnosis?

      Your Answer: Cephalhaematoma

      Explanation:

      The most likely diagnosis for the newborn baby’s well-demarcated, fluctuant swelling that appeared two days after birth is cephalohaematoma. This is a haemorrhage between the skull and periosteum that occurs when blood vessels crossing the periosteum rupture. The swelling is limited by the individual bones and does not cross suture lines. It may take months to resolve as the blood clot is reabsorbed. Cephalohaematoma is more common in prolonged and/or instrumental deliveries and may lead to jaundice, anaemia or hypotension if severe. It may also indicate a linear skull fracture or risk of infection. Caput succedaneum, chignon, normal skull shape, and subgaleal haemorrhage are less likely diagnoses.

      A cephalohaematoma is a swelling that appears on a newborn’s head, usually a few hours after delivery. It is caused by bleeding between the skull and periosteum, with the parietal region being the most commonly affected site. This condition may lead to jaundice as a complication and can take up to three months to resolve.

      In comparison to caput succedaneum, which is another type of swelling that can occur on a newborn’s head, cephalohaematoma is more localized and does not cross suture lines. Caput succedaneum, on the other hand, is a diffuse swelling that can cross suture lines and is caused by fluid accumulation in the scalp tissue. Both conditions are usually harmless and resolve on their own, but medical attention may be necessary in severe cases.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - A 5-year-old girl is brought in by ambulance. Her parents explain that she...

    Incorrect

    • A 5-year-old girl is brought in by ambulance. Her parents explain that she has had cold symptoms for the last 24 hours but is generally well. They describe her walking towards them in the park when she suddenly went floppy and all four limbs started shaking. This lasted for around 1 minute, during which time she did not respond to her name and her eyes were rolled back. She remained drowsy for the next 30 minutes or so in the ambulance but is now well, alert and active, moving all limbs normally.
      What is the most likely diagnosis?

      Your Answer: Hypoglycaemia

      Correct Answer: Febrile convulsion

      Explanation:

      Differential diagnosis of a seizure in a young child

      Febrile convulsion, reflex anoxic seizure, meningitis, epilepsy, and hypoglycaemia are among the possible causes of a seizure in a young child. Febrile convulsions are the most common type of seizure in this age group, occurring during a febrile illness and lasting less than 15 minutes. They are usually benign and do not require long-term treatment, but there is a risk of recurrence and a small risk of developing epilepsy later in life. Reflex anoxic seizures are syncopal episodes triggered by a minor head injury, resulting in a brief loss of consciousness and some convulsive activity. Meningitis is a serious infection of the central nervous system that presents with fever, headache, neck stiffness, and a non-blanching rash. Epilepsy is a chronic neurological disorder characterized by recurrent seizures, but it cannot be diagnosed based on a single episode. Hypoglycaemia is a metabolic condition that can cause seizures in diabetic patients, typically accompanied by symptoms like sweating, shakiness, tachycardia, nausea, and vomiting. A careful history, physical examination, and laboratory tests can help differentiate these conditions and guide appropriate management.

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      • Paediatrics
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  • Question 12 - A 12-year-old girl comes to the paediatric outpatient departments with a height of...

    Correct

    • A 12-year-old girl comes to the paediatric outpatient departments with a height of 142 cm, which is below the 0.4th centile. Upon examination, she has an immature-appearing face and a significantly delayed bone age on wrist x-ray. Her TSH levels are normal, and she is at an appropriate Tanner stage. It is noted that her mother had her menarche at the age of 11 years. What is the probable diagnosis for this patient?

      Your Answer: Growth hormone deficiency

      Explanation:

      Growth Hormone Deficiency as a Cause of Short Stature in Pubescent Girls

      A girl who has gone through puberty but has not gained height may have growth hormone deficiency. This condition is characterized by a discrepancy between the girl’s bone age and chronological age, as well as a doll-like face that gives her an immature appearance. Growth hormone deficiency is a rare but significant cause of short stature, as it can be a symptom of an underlying disease and can be treated with replacement injections.

      In some cases, GH deficiency may be caused by intracerebral masses, particularly craniopharyngiomas in 7- to 10-year-olds. However, if a chronic illness were the cause, such as coeliac disease or Cushing syndrome, it would likely delay puberty and result in an inappropriately young Tanner stage. The girl would also be expected to exhibit features of the chronic condition.

      It is important to note that this girl is not suffering from constitutional delay, as she has already entered puberty and has appropriate Tanner staging. Constitutional delay is typically characterized by a family history and delayed menarche in the affected individual. Therefore, growth hormone deficiency should be considered as a potential cause of short stature in pubescent girls who have not gained height despite going through puberty.

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      • Paediatrics
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  • Question 13 - A 5-month-old baby presents with symptoms of shortness of breath and difficulty taking...

    Correct

    • A 5-month-old baby presents with symptoms of shortness of breath and difficulty taking feeds. During examination, a systolic murmur is heard at the left lower sternal edge, and a thrill is felt in the pulmonary area. A rough ejection systolic murmur is best heard in the same area. An ECG shows right ventricular hypertrophy with right axis deviation, and the liver is palpable. The baby's oxygen saturation intermittently drops to 88%, causing cyanotic spells. What is the most probable diagnosis?

      Your Answer: Tetralogy of Fallot

      Explanation:

      Understanding Congenital Heart Disorders: Tetralogy of Fallot and Other Conditions

      Congenital heart disorders are conditions that affect the heart’s structure and function from birth. One such disorder is Tetralogy of Fallot, which is characterized by several abnormalities, including right ventricular hypertrophy, pulmonary stenosis, VSD, and an overriding aorta. Symptoms usually appear at birth or within the first year of life and are caused by a right-to-left shunt, leading to systemic hypoxemia.

      Cyanotic spells are common in Tetralogy of Fallot and can cause marked desaturation due to a decrease in systemic vascular resistance or an increase in pulmonary resistance. In some cases, a left-to-right shunt may initially be present, leading to pulmonary hypertension and eventually causing a right-to-left shunt and heart failure.

      Other congenital heart disorders include VSD, which may not manifest until childhood or adulthood, transposition of the great vessels, which presents at birth with severe hypoxemia, ASD, which may not manifest until later in life, and coarctation of the aorta, which typically does not present until later in life unless extremely severe.

      Understanding these congenital heart disorders and their symptoms is crucial for early diagnosis and treatment, which can improve outcomes and quality of life for affected individuals.

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      • Paediatrics
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  • Question 14 - A father brings his 5-year-old daughter to the paediatric emergency department. She has...

    Correct

    • A father brings his 5-year-old daughter to the paediatric emergency department. She has a fever and he has noticed raised nodes on her neck. Despite giving her paracetamol and ibuprofen, her temperature is not decreasing. Her lips have become extremely dry and cracked, and her tongue is red and slightly swollen. The father has also noticed that her feet are now red and puffy, and she is developing a widespread fine rash. What is the probable diagnosis?

      Your Answer: Kawasaki's disease

      Explanation:

      An eruption characterized by tender papules and vesicles can develop on the hands and feet. Measles typically presents with a fever and symptoms of a cold. Koplik’s spots, which are bright red with a bluish white center, may appear on the oral mucosa. A maculopapular rash usually appears 3-5 days later. Parvovirus B19 is commonly referred to as slapped cheek syndrome. Scarlet fever may also cause an inflamed tongue, but it would not account for the red and swollen feet that later peel.

      Understanding Kawasaki Disease

      Kawasaki disease is a rare type of vasculitis that primarily affects children. It is important to identify this disease early on as it can lead to serious complications, such as coronary artery aneurysms. The disease is characterized by a high-grade fever that lasts for more than five days and is resistant to antipyretics. Other symptoms include conjunctival injection, bright red, cracked lips, strawberry tongue, cervical lymphadenopathy, and red palms and soles that later peel.

      Diagnosis of Kawasaki disease is based on clinical presentation as there is no specific diagnostic test available. Management of the disease involves high-dose aspirin, which is one of the few indications for aspirin use in children. Intravenous immunoglobulin is also used as a treatment option. Echocardiogram is the initial screening test for coronary artery aneurysms, rather than angiography.

      Complications of Kawasaki disease can be serious, with coronary artery aneurysm being the most common. It is important to recognize the symptoms of Kawasaki disease early on and seek medical attention promptly to prevent potential complications.

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      • Paediatrics
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  • Question 15 - A 12-year-old female presents to her GP complaining of fatigue, weight loss, frequent...

    Incorrect

    • A 12-year-old female presents to her GP complaining of fatigue, weight loss, frequent urination, and excessive thirst. Her random plasma glucose level is 15 mmol/litre. The patient has a pre-existing condition since childhood that may be responsible for these symptoms. What is the most probable underlying condition?

      Your Answer: Congenital adrenal hyperplasia

      Correct Answer: Cystic fibrosis

      Explanation:

      The onset of diabetes in a young person, as described in this presentation, is a classic symptom and has been confirmed by a random blood glucose level of >11 mmol/L. Among the given options, only cystic fibrosis has the potential to cause the development of diabetes. Cystic fibrosis typically manifests in childhood with respiratory symptoms, but as the disease progresses, other symptoms may appear. If the pancreas is affected, it can lead to the development of diabetes mellitus. However, it may take some time for the pancreas to be affected enough to cause diabetes, which is why children with cystic fibrosis may develop diabetes later in life. While the other conditions listed may cause fatigue or weight loss, they do not typically result in polyuria or polydipsia.

      Cystic Fibrosis: Symptoms and Characteristics

      Cystic fibrosis is a genetic disorder that affects various organs in the body, particularly the lungs and digestive system. The symptoms of cystic fibrosis can vary from person to person, but there are some common features that are often present. In the neonatal period, around 20% of infants with cystic fibrosis may experience meconium ileus, which is a blockage in the intestine caused by thick, sticky mucous. Prolonged jaundice may also occur, but less commonly. Recurrent chest infections are a common symptom, affecting around 40% of patients. Malabsorption is another common feature, with around 30% of patients experiencing steatorrhoea (excessive fat in the stool) and failure to thrive. Liver disease may also occur in around 10% of patients.

      It is important to note that while many patients are diagnosed with cystic fibrosis during newborn screening or early childhood, around 5% of patients are not diagnosed until after the age of 18. Other features of cystic fibrosis may include short stature, diabetes mellitus, delayed puberty, rectal prolapse (due to bulky stools), nasal polyps, male infertility, and female subfertility. Overall, the symptoms and characteristics of cystic fibrosis can vary widely, but early diagnosis and treatment can help manage the condition and improve quality of life.

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      • Paediatrics
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  • Question 16 - A 6-month-old boy is brought to the paediatrics emergency department by his parents....

    Incorrect

    • A 6-month-old boy is brought to the paediatrics emergency department by his parents. His parents report that he has had a fever for 2 days with reduced activity and feeding. On examination, he is not smiling, his respiratory rate is 50 breaths/minute (normal range: 30-60 breaths/minute) and his heart rate is 155 beats/minute (100-160 beats/minute). He also has reduced skin turgor and looks pale. A nurse looks up the NICE traffic light system to identify his risk of serious illness.
      What is the most concerning symptom in this patient?

      Your Answer: Age <6 months

      Correct Answer: Reduced skin turgor

      Explanation:

      According to the NICE traffic light system, reduced skin turgor is a red flag symptom in children. This system is used to identify the risk of serious illness in children. Decreased activity is considered an amber symptom, while age <6 months is not a red flag symptom. Age 3-6 months with a temperature of >=39ÂșC is an amber flag symptom, and age <3 months with a temperature of >=38°C is a red flag symptom. A respiratory rate of >60 breaths/minute is also a red flag symptom. Finally, a heart rate of >160 beats/minute in children under 12 months is an amber flag symptom.

      The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infrared tympanic thermometer.

      The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. The table includes categories such as color, activity, respiratory, circulation and hydration, and other symptoms. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.

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  • Question 17 - Sophie is a 16-year-old girl who is admitted with abdominal pain. An ultrasound...

    Correct

    • Sophie is a 16-year-old girl who is admitted with abdominal pain. An ultrasound scan report comes back with findings consistent with appendicitis. Her parents do not want her to undergo surgery.

      Sophie appears to be a mature and intelligent young woman and is currently in a stable condition. After extensive discussions with her parents and the surgical team, Sophie expresses her desire to undergo surgery. However, her parents are unhappy with her decision and threaten to sue the hospital if she goes through with the operation.

      What is the appropriate course of action in this situation?

      Your Answer: Obtain written consent for appendicectomy from Jessica and take her to theatre

      Explanation:

      Jessica is deemed to have Gillick competence by the medical team, as she is a bright young woman who has thoroughly discussed the situation and appears to comprehend it. Therefore, she can provide consent for the procedure, even if her parents disagree. As she is stable, written consent should be obtained instead of verbal consent, which could be used in an emergency. It is not advisable to try and persuade her parents of the advantages of surgery, as this could delay her treatment. If Jessica has given her own valid consent, there is no need to wait for her parents’ decision. According to GMC’s 0-18 years guidance, parents cannot override the competent consent of a young person for treatment that is deemed to be in their best interests. However, parental consent can be relied upon when a child lacks the capacity to provide consent.

      Guidelines for Obtaining Consent in Children

      The General Medical Council has provided guidelines for obtaining consent in children. According to these guidelines, young people who are 16 years or older can be treated as adults and are presumed to have the capacity to make decisions. However, for children under the age of 16, their ability to understand what is involved determines whether they have the capacity to decide. If a competent child refuses treatment, a person with parental responsibility or the court may authorize investigation or treatment that is in the child’s best interests.

      When it comes to providing contraceptives to patients under 16 years of age, the Fraser Guidelines must be followed. These guidelines state that the young person must understand the professional’s advice, cannot be persuaded to inform their parents, is likely to begin or continue having sexual intercourse with or without contraceptive treatment, and will suffer physical or mental health consequences without contraceptive treatment. Additionally, the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent.

      Some doctors use the term Fraser competency when referring to contraception and Gillick competency when referring to general issues of consent in children. However, rumors that Victoria Gillick removed her permission to use her name or applied copyright have been debunked. It is important to note that in Scotland, those with parental responsibility cannot authorize procedures that a competent child has refused.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 18 - During the baby check of Maya, a 4-day-old neonate delivered via Caesarean section...

    Correct

    • During the baby check of Maya, a 4-day-old neonate delivered via Caesarean section due to a breech position, both Barlows and Ortolani's tests are negative. What should be the next best step?

      Your Answer: Perform a bilateral hip ultrasound at 4-6 weeks

      Explanation:

      The Importance of Bilateral Hip Ultrasound in Newborns with Risk Factors for Developmental Dysplasia of the Hip

      Babies with risk factors for developmental dysplasia of the hip require further investigation even if they test negative on Barlows and Ortolani’s tests. National guidelines recommend a bilateral hip ultrasound at 4-6 weeks for these infants. If the Barlow’s or Ortolani’s tests are abnormal, a scan should be done within 2 weeks. In cases where the baby was in the breech position at term but had negative test results, a hip ultrasound is still necessary. It is important to reassure parents that this is a normal procedure and that no treatment may be necessary. Bilateral hip radiographs are not useful in neonates and MRI is not used in the diagnosis of developmental dysplasia of the hip. Operative approaches are only recommended for patients over 18 months of age, and conservative approaches are preferred for younger children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 19 - Which one of the following vaccines is not given routinely in the first...

    Incorrect

    • Which one of the following vaccines is not given routinely in the first 6 months of life?

      Your Answer: Tetanus vaccine

      Correct Answer: MMR

      Explanation:

      The UK immunisation schedule recommends certain vaccines at different ages. At birth, the BCG vaccine is given if the baby is at risk of tuberculosis. At 2, 3, and 4 months, the ‘6-1 vaccine’ (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) and oral rotavirus vaccine are given, along with Men B and PCV at certain intervals. At 12-13 months, the Hib/Men C, MMR, and PCV vaccines are given, along with Men B. At 3-4 years, the ‘4-in-1 preschool booster’ (diphtheria, tetanus, whooping cough and polio) and MMR vaccines are given. At 12-13 years, the HPV vaccination is given, and at 13-18 years, the ‘3-in-1 teenage booster’ (tetanus, diphtheria and polio) and Men ACWY vaccines are given. Additionally, the flu vaccine is recommended annually for children aged 2-8 years.

      It is important to note that the meningitis ACWY vaccine has replaced meningitis C for 13-18 year-olds due to an increased incidence of meningitis W disease in recent years. The ACWY vaccine will also be offered to new students (up to the age of 25 years) at university. GP practices will automatically send letters inviting 17-and 18-year-olds in school year 13 to have the Men ACWY vaccine. Students going to university or college for the first time as freshers, including overseas and mature students up to the age of 25, should contact their GP to have the Men ACWY vaccine, ideally before the start of the academic year.

      It is worth noting that the Men C vaccine used to be given at 3 months but has now been discontinued. This is because the success of the Men C vaccination programme means there are almost no cases of Men C disease in babies or young children in the UK any longer. All children will continue to be offered the Hib/Men C vaccine at one year of age, and the Men ACWY vaccine at 14 years of age to provide protection across all age groups.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 20 - A 4-week-old baby boy is brought to the Emergency Department with a two-week...

    Correct

    • A 4-week-old baby boy is brought to the Emergency Department with a two-week history of vomiting after every feed and then appearing very hungry afterwards. His weight has remained at 3.8 kg for the past two weeks, and for the past two days, the vomiting has become projectile. His birth weight was 3.2 kg. He is exclusively breastfed. A small mass can be palpated in the right upper quadrant of his abdomen.
      What is the most likely diagnosis?

      Your Answer: Pyloric stenosis

      Explanation:

      Pyloric stenosis is a condition where the pylorus becomes enlarged, typically affecting baby boys at around six weeks of age. Symptoms include projectile vomiting, dehydration, and poor weight gain. Diagnosis is confirmed through ultrasound, and treatment involves surgical pyloromyotomy, often done laparoscopically.

      Cow’s milk protein allergy is an immune response to cow’s milk protein, with symptoms appearing immediately or hours after ingestion. Symptoms include rash, constipation, colic, diarrhea, or reflux, but not projectile vomiting or an abdominal mass. Treatment involves an exclusion diet, with breastfeeding mothers advised to avoid cow’s milk and take calcium and vitamin D supplements.

      Gastroenteritis presents with diarrhea and vomiting, but not projectile vomiting or an abdominal mass. Rotavirus is a common cause, and babies can receive a vaccine at eight and twelve weeks.

      Gastro-oesophageal reflux disease (GORD) may cause vomiting and poor weight gain, but not projectile vomiting or an abdominal mass. Treatment involves regular winding during feeds, smaller and more frequent feeds, and keeping the baby upright after feeds. Medication may be prescribed if these measures fail.

      Volvulus is a twisting of the bowel resulting in acute obstruction and a distended abdomen. Symptoms have a shorter duration before the baby becomes very unwell.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 21 - A 22-year-old woman brings her 8-week-old baby to an emergency GP appointment. The...

    Incorrect

    • A 22-year-old woman brings her 8-week-old baby to an emergency GP appointment. The mother reports that her baby is extremely fussy in the evenings, crying incessantly and pulling up their legs. The baby was delivered vaginally at full term and is exclusively breastfed. The baby's weight is normal and there are no other health concerns. Upon examination, everything appears to be normal. What course of action would you suggest?

      Your Answer: Commence formula milk top-ups in the evenings

      Correct Answer: Reassurance and support

      Explanation:

      Understanding Infantile Colic

      Infantile colic is a common condition that affects infants under three months old. It is characterized by excessive crying and pulling up of the legs, which is often worse in the evening. This condition affects up to 20% of infants, and its cause is unknown.

      Despite its prevalence, there is no known cure for infantile colic. However, there are some remedies that parents can try to alleviate the symptoms. NICE Clinical Knowledge Summaries advise against the use of simethicone or lactase drops, such as InfacolÂź and ColiefÂź, respectively. These remedies have not been proven to be effective in treating infantile colic.

      Parents can try other methods to soothe their baby, such as holding them close, rocking them gently, or using a pacifier. Some parents also find that white noise or music can help calm their baby. It is important to remember that infantile colic is a temporary condition that usually resolves on its own by the time the baby is three to four months old.

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      • Paediatrics
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  • Question 22 - A 3-month-old previously healthy boy is brought into the pediatrician's office by his...

    Incorrect

    • A 3-month-old previously healthy boy is brought into the pediatrician's office by his father who is concerned about a change in his behavior. The father suspects his child has a fever. During the examination, the baby is found to have a temperature of 38.5 ÂșC but no other notable findings.

      What should be the next course of action?

      Your Answer: Administer benzylpenicillin and call 999

      Correct Answer: Urgent referral for paediatric assessment at the hospital

      Explanation:

      If a child under 3 months old has a fever above 38ÂșC, it is considered a high-risk situation and requires urgent assessment. This is a crucial factor to consider when evaluating a child with a fever. The NICE guidelines use a traffic light system to categorize the risk level of children under 5 with a fever, taking into account various factors such as the child’s appearance, activity level, respiratory function, circulation, hydration, and temperature. If the child falls under the green category, they can be managed at home with appropriate care advice. If they fall under the amber category, parents should be given advice and provided with a safety net, or the child should be referred for pediatric assessment. Children in the red category must be referred urgently to a pediatric specialist. In children under 3 months with fever, NICE recommends performing various investigations such as blood culture, full blood count, c-reactive protein, urine testing for urinary tract infections, stool culture if diarrhea is present, and chest x-ray if there are respiratory signs. Lumbar puncture should be performed in infants under 1 month old, all infants aged 1-3 months who appear unwell, and infants aged 1-3 months with a white blood cell count (WBC) less than 5 × 109/liter or greater than 15 × 109/liter. NICE also recommends administering parenteral antibiotics to this group of patients.

      The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infrared tympanic thermometer.

      The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. The table includes categories such as color, activity, respiratory, circulation and hydration, and other symptoms. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.

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      • Paediatrics
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  • Question 23 - A newborn delivered 12 hours ago without any complications is showing signs of...

    Incorrect

    • A newborn delivered 12 hours ago without any complications is showing signs of jaundice. The mother gave birth at home and has been breastfeeding, but is concerned about the baby's skin color. The baby was born at 38 weeks gestation. What is the recommended course of action for management?

      Your Answer: Continue Breastfeeding as normal

      Correct Answer: Referral for paediatric assessment

      Explanation:

      Since the infant is just 15 hours old, the jaundice is considered pathological. This implies that it is not related to breastfeeding, and the appropriate course of action would be to promptly seek a paediatric evaluation.

      Jaundice in newborns can occur within the first 24 hours of life and is always considered pathological. The causes of jaundice during this period include rhesus and ABO haemolytic diseases, hereditary spherocytosis, and glucose-6-phosphodehydrogenase deficiency. On the other hand, jaundice in neonates from 2-14 days is common and usually physiological, affecting up to 40% of babies. This type of jaundice is due to a combination of factors such as more red blood cells, fragile red blood cells, and less developed liver function. Breastfed babies are more likely to develop this type of jaundice.

      If jaundice persists after 14 days (21 days for premature babies), a prolonged jaundice screen is performed. This includes tests for conjugated and unconjugated bilirubin, direct antiglobulin test, thyroid function tests, full blood count and blood film, urine for MC&S and reducing sugars, and urea and electrolytes. Prolonged jaundice can be caused by biliary atresia, hypothyroidism, galactosaemia, urinary tract infection, breast milk jaundice, prematurity, and congenital infections such as CMV and toxoplasmosis. Breast milk jaundice is more common in breastfed babies and is thought to be due to high concentrations of beta-glucuronidase, which increases the intestinal absorption of unconjugated bilirubin. Prematurity also increases the risk of kernicterus.

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      • Paediatrics
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  • Question 24 - A 25-year-old female arrives at the emergency department complaining of fevers, myalgia, and...

    Correct

    • A 25-year-old female arrives at the emergency department complaining of fevers, myalgia, and painful eyes that have been bothering her for the past two days. She recently returned from a trip to the Democratic Republic of the Congo, where she failed to comply with her anti-malarial medication due to gastrointestinal side effects. Upon examination, she has a temperature of 38.8ÂșC, and she displays clustered white lesions on her buccal mucosa and conjunctivitis. What is the probable diagnosis?

      Your Answer: Measles

      Explanation:

      Measles: A Highly Infectious Viral Disease

      Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

      The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

      Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

      If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

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      • Paediatrics
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  • Question 25 - A 10-year-old boy is brought to surgery due to persistent leg pains. Which...

    Correct

    • A 10-year-old boy is brought to surgery due to persistent leg pains. Which one of the following would not be consistent with a diagnosis of 'growing pains'?

      Your Answer: Present upon waking in the morning

      Explanation:

      Understanding Growing Pains in Children

      Growing pains are a common complaint among children aged 3-12 years. These pains are often attributed to ‘benign idiopathic nocturnal limb pains of childhood’ in rheumatology, as they are not necessarily related to growth. Boys and girls are equally affected by growing pains, which are characterized by intermittent pain in the legs without obvious cause.

      One of the key features of growing pains is that they are never present at the start of the day after the child has woken up. Additionally, there is no limp or limitation of physical activity, and the child is systemically well with normal physical examination and motor milestones. Symptoms may worsen after a day of vigorous activity.

      Overall, growing pains are a benign condition that can be managed with reassurance and simple measures such as massage or heat application. However, it is important to rule out other potential causes of leg pain in children, especially if there are any worrying features present.

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      • Paediatrics
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  • Question 26 - A 9-month-old girl is brought to their GP due to family concerns over...

    Incorrect

    • A 9-month-old girl is brought to their GP due to family concerns over the child's development. They were born at term via vaginal delivery, without complications. The child is otherwise well, without past medical history.
      What developmental milestone would be most anticipated in this child?

      Your Answer: Good pincer grip

      Correct Answer: Pass objects from one hand to another

      Explanation:

      A 6-month-old boy was brought to the GP by his family who were concerned about his development. The GP tested his developmental milestones and found that he was able to hold objects with palmar grasp and pass objects from one hand to another. However, the child was not yet able to build a tower of 2 bricks, have a good pincer grip, or show a hand preference, which are expected milestones for older children. The GP reassured the family that the child’s development was within the normal range for his age.

      Developmental Milestones for Fine Motor and Vision Skills

      Fine motor and vision skills are important developmental milestones for infants and young children. These skills are crucial for their physical and cognitive development. The following tables provide a summary of the major milestones for fine motor and vision skills.

      At three months, infants can reach for objects and hold a rattle briefly if given to their hand. They are visually alert, particularly to human faces, and can fix and follow objects up to 180 degrees. By six months, they can hold objects in a palmar grasp and pass them from one hand to another. They are visually insatiable, looking around in every direction.

      At nine months, infants can point with their finger and demonstrate an early pincer grip. By 12 months, they have developed a good pincer grip and can bang toys together and stack bricks.

      As children grow older, their fine motor skills continue to develop. By 15 months, they can build a tower of two blocks, and by 18 months, they can build a tower of three blocks. By two years old, they can build a tower of six blocks, and by three years old, they can build a tower of nine blocks. They also begin to draw, starting with circular scribbles at 18 months and progressing to copying vertical lines at two years old, circles at three years old, crosses at four years old, and squares and triangles at five years old.

      In addition to fine motor skills, children’s vision skills also develop over time. At 15 months, they can look at a book and pat the pages. By 18 months, they can turn several pages at a time, and by two years old, they can turn one page at a time.

      It is important to note that hand preference before 12 months is abnormal and may indicate cerebral palsy. Overall, these developmental milestones for fine motor and vision skills are important indicators of a child’s growth and development.

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      • Paediatrics
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  • Question 27 - A 6-year-old male is brought to his pediatrician by his father who is...

    Incorrect

    • A 6-year-old male is brought to his pediatrician by his father who is worried that he may have an infection. He reports that for the past 5 days his son has been scratching his anal and genital area, especially at night. He has also noticed some 'white threads' in his son's stool which he is very concerned about.

      What is the most suitable course of action based on the probable diagnosis?

      Your Answer: 7 days of oral mebendazole for the entire household and hygiene advice

      Correct Answer: Single dose of oral mebendazole for the entire household and hygiene advice

      Explanation:

      The most likely diagnosis in this case is a threadworm infection, which commonly affects young children and can cause anal and vulval itching. Threadworms can be seen in faeces and appear as white thread-like pieces. The recommended first-line treatment for threadworm infection is a single dose of mebendazole, and it is advised that all members of the household receive treatment due to the high risk of transmission. In addition to medication, hygiene measures such as frequent hand-washing, washing of bedding and towels, and disinfecting surfaces should also be recommended. It is important to note that hygiene advice alone is not sufficient to eradicate the infection. Administering mebendazole to only the affected individual or for a prolonged period of time is also incorrect.

      Threadworm Infestation in Children

      Threadworm infestation, caused by Enterobius vermicularis or pinworms, is a common occurrence among children in the UK. The infestation happens when eggs present in the environment are ingested. In most cases, threadworm infestation is asymptomatic, but some possible symptoms include perianal itching, especially at night, and vulval symptoms in girls. Diagnosis can be made by applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically, and this approach is supported in the CKS guidelines.

      The CKS recommends a combination of anthelmintic with hygiene measures for all members of the household. Mebendazole is the first-line treatment for children over six months old, and a single dose is given unless the infestation persists. It is essential to treat all members of the household to prevent re-infection. Proper hygiene measures, such as washing hands regularly, keeping fingernails short, and washing clothes and bedding at high temperatures, can also help prevent the spread of threadworm infestation.

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      • Paediatrics
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  • Question 28 - A family consisting of a husband, wife, and their toddler son visit a...

    Correct

    • A family consisting of a husband, wife, and their toddler son visit a genetic counselling session. The son has recently been diagnosed with hereditary haemochromatosis, and both parents are carriers. They are worried as they had plans to expand their family.
      What is the likelihood of their next child having the same genotype?

      Your Answer: 25%

      Explanation:

      Understanding Autosomal Recessive Inheritance

      Autosomal recessive inheritance is a genetic pattern where a disorder is only expressed when an individual inherits two copies of a mutated gene, one from each parent. This means that only homozygotes, individuals with two copies of the mutated gene, are affected. Both males and females are equally likely to be affected, and the disorder may not manifest in every generation, as it can skip a generation.

      When two heterozygote parents, carriers of the mutated gene, have children, there is a 25% chance of having an affected (homozygote) child, a 50% chance of having a carrier (heterozygote) child, and a 25% chance of having an unaffected child. On the other hand, if one parent is homozygote for the gene and the other is unaffected, all the children will be carriers.

      Autosomal recessive disorders are often metabolic in nature and can be life-threatening compared to autosomal dominant conditions. Understanding the inheritance pattern of autosomal recessive disorders is crucial in genetic counseling and family planning.

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  • Question 29 - A 14-year-old male from the Roma community presents to his GP with symptoms...

    Correct

    • A 14-year-old male from the Roma community presents to his GP with symptoms of cough, rhinorrhoea, sore throat, fever and a rash. He has no significant medical history and is not taking any medications. He recently arrived from Romania. On examination, he has a maculopapular rash on his face, serous discharge from his eyes, and small white lesions on his buccal mucosa. There is no tonsillar exudate or evidence of meningism. Cardio-respiratory and abdominal examinations are unremarkable. What is the most likely diagnosis?

      Your Answer: Measles

      Explanation:

      The patient’s symptoms, including cough, conjunctivitis, fever, and a rash with Koplik spots, suggest a diagnosis of measles. Measles is characterized by these symptoms, as well as a maculopapular rash that starts behind the ears. The presence of Koplik spots is a key indicator of measles. It is worth noting that some groups, such as the Roma community, have lower rates of vaccination against measles, mumps, and rubella.

      Epstein Barr virus is an incorrect answer. While it can cause fever and sore throat, it is less likely to present with a rash and Koplik spots. Instead, cervical lymphadenopathy is a more prominent feature. Palatal petechiae may be visible early on.

      Rubella is also an incorrect answer. While it can cause a rash on the face, there is no presence of Koplik spots. Additionally, fever tends to be less severe. Post-auricular and suboccipital lymphadenopathy may be present.

      Scarlet fever is another incorrect answer. The rash associated with scarlet fever typically starts on the abdomen and spreads to the back and limbs. Sore throat is a prominent symptom, and there may be tonsillar exudate. Cough is not typically present, and a strawberry tongue may be visible.

      Measles: A Highly Infectious Viral Disease

      Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

      The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

      Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

      If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

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      • Paediatrics
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  • Question 30 - A five-month-old girl arrives at the emergency department with a 10-hour history of...

    Correct

    • A five-month-old girl arrives at the emergency department with a 10-hour history of fever, vomiting, and irritability. During examination, a bulging anterior fontanelle and reduced tone in all four limbs are observed. The patient's vital signs are as follows: respiratory rate: 40/min, heart rate: 150/min, blood pressure: 75/45 mmHg, and temperature: 39.8ÂșC. What would be the most suitable initial medication to prescribe for this patient?

      Your Answer: Intravenous ceftriaxone

      Explanation:

      The appropriate initial treatment for meningitis in patients over 3 months of age is intravenous administration of a 3rd generation cephalosporin, specifically ceftriaxone. This is important to consider in patients with non-specific symptoms but concerning observations and examination findings. Intramuscular or oral benzylpenicillin is not the correct choice for initial empirical therapy, as it is reserved for use in the community before transfer to the hospital. Intravenous cephalexin is also not appropriate, as it is a first-generation cephalosporin and is administered orally rather than intravenously.

      Investigation and Management of Meningitis in Children

      Meningitis is a serious condition that can affect children. When investigating meningitis, it is important to note any contraindications to lumbar puncture, such as signs of raised intracranial pressure, focal neurological signs, papilloedema, significant bulging of the fontanelle, disseminated intravascular coagulation, or signs of cerebral herniation. For patients with meningococcal septicaemia, a lumbar puncture is contraindicated, and blood cultures and PCR for meningococcal should be obtained instead.

      The management of meningitis in children involves administering antibiotics, such as IV amoxicillin (or ampicillin) and IV cefotaxime for children under three months, and IV cefotaxime (or ceftriaxone) for children over three months. Steroids should be considered if the lumbar puncture reveals certain findings, such as purulent cerebrospinal fluid, a high white blood cell count, or bacteria on Gram stain. Fluids should be administered to treat shock, and cerebral monitoring should be conducted, including mechanical ventilation if necessary.

      It is also important to notify public health authorities and administer antibiotic prophylaxis to contacts. Ciprofloxacin is now preferred over rifampicin for this purpose. Overall, prompt and appropriate management of meningitis in children is crucial for ensuring the best possible outcomes.

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SESSION STATS - PERFORMANCE PER SPECIALTY

Paediatrics (19/30) 63%
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