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  • Question 1 - A 1-year-old child is brought to the emergency room with poor muscle tone,...

    Incorrect

    • A 1-year-old child is brought to the emergency room with poor muscle tone, gasping respirations, cyanosis, and a heart rate of 80 bpm. The child's APGAR score is 3 and is placed in the sniffing position for airway maintenance. However, there are no changes noted on reassessment. After positive pressure ventilation for 30 seconds, the child is now showing shallow respirations and a heart rate of 50 bpm. Chest compressions are initiated. What is the recommended compression: ventilation ratio for this child?

      Your Answer: 5:01

      Correct Answer: 3:01

      Explanation:

      If a newborn is healthy, they will have good tone, be pink in color, and cry immediately after delivery. A healthy newborn’s heart rate should be between 120-150 bpm. However, if the infant has poor tone, is struggling to breathe, and has a low heart rate that is not improving, compressions are necessary. According to newborn resuscitation guidelines, compressions and ventilations should be administered at a 3:1 ratio. Therefore, the correct course of action in this scenario is to perform compressions.

      Newborn resuscitation involves a series of steps to ensure the baby’s survival. The first step is to dry the baby and maintain their body temperature. The next step is to assess the baby’s tone, respiratory rate, and heart rate. If the baby is gasping or not breathing, five inflation breaths should be given to open the lungs. After this, the baby’s chest movements should be reassessed. If the heart rate is not improving and is less than 60 beats per minute, compressions and ventilation breaths should be administered at a rate of 3:1.

      It is important to note that inflation breaths are different from ventilation breaths. The aim of inflation breaths is to sustain pressure to open the lungs, while ventilation breaths are used to provide oxygen to the baby’s body. By following these steps, healthcare professionals can increase the chances of a newborn’s survival and ensure that they receive the necessary care to thrive. Proper newborn resuscitation can make all the difference in a baby’s life, and it is crucial that healthcare professionals are trained in these techniques.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 2 - A 4-month-old baby boy is found to have developmental dysplasia of the right...

    Incorrect

    • A 4-month-old baby boy is found to have developmental dysplasia of the right hip during an ultrasound scan. The hip was noted to be abnormal during clinical examination at birth. What is the probable treatment for this condition?

      Your Answer: Spica cast in flexion and abduction

      Correct Answer: Pavlik harness (dynamic flexion-abduction orthosis)

      Explanation:

      Developmental dysplasia of the hip (DDH) is a condition that affects 1-3% of newborns and is more common in females, firstborn children, and those with a positive family history or breech presentation. It used to be called congenital dislocation of the hip (CDH). DDH is more often found in the left hip and can be bilateral in 20% of cases. Screening for DDH is recommended for infants with certain risk factors, and all infants are screened using the Barlow and Ortolani tests at the newborn and six-week baby check. Clinical examination includes testing for leg length symmetry, restricted hip abduction, and knee level when hips and knees are flexed. Ultrasound is used to confirm the diagnosis if clinically suspected, but x-ray is the first line investigation for infants over 4.5 months. Management includes the use of a Pavlik harness for children under 4-5 months and surgery for older children with unstable hips.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 3 - A murmur is incidentally discovered by a GP in a 9-year-old girl. The...

    Incorrect

    • A murmur is incidentally discovered by a GP in a 9-year-old girl. The murmur is described as a 'continuous blowing noise' heard below both clavicles. What type of murmur is most likely to be diagnosed?

      Your Answer: Pulmonary flow murmur

      Correct Answer: Venous hum

      Explanation:

      A venous hum is a harmless murmur commonly found in children. It is characterized by a constant blowing sound that can be heard beneath the collarbones. In contrast, a Still’s murmur is also benign but produces a low-pitched noise on the lower left side of the sternum. A pulmonary flow murmur is another harmless murmur, but it is heard on the upper left side of the sternum. The remaining murmurs are considered pathological.

      Innocent murmurs are common in children and are usually harmless. There are different types of innocent murmurs, including ejection murmurs, venous hums, and Still’s murmur. Ejection murmurs are caused by turbulent blood flow at the outflow tract of the heart, while venous hums are due to turbulent blood flow in the great veins returning to the heart. Still’s murmur is a low-pitched sound heard at the lower left sternal edge.

      An innocent ejection murmur is characterized by a soft-blowing murmur in the pulmonary area or a short buzzing murmur in the aortic area. It may vary with posture and is localized without radiation. There is no diastolic component, no thrill, and no added sounds such as clicks. The child is usually asymptomatic, and there are no other abnormalities.

      Overall, innocent murmurs are not a cause for concern and do not require treatment. However, if a child has symptoms such as chest pain, shortness of breath, or fainting, further evaluation may be necessary to rule out any underlying heart conditions.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 4 - A 14-year-old high school student comes to your office with symptoms of depression....

    Incorrect

    • A 14-year-old high school student comes to your office with symptoms of depression. During the consultation, she reveals that she has been bullied for having sex with an 18-year-old boy in the same school. The sexual encounter was consensual and occurred only once, without the influence of drugs or alcohol.

      What is the best immediate step to take?

      Your Answer: You must contact the patient's mother as she is the legal guardian

      Correct Answer: You should disclose that this girl has been sexually active to the relevant authority

      Explanation:

      When it comes to sexual issues involving young people, the topics of consent and confidentiality can be challenging. However, in this particular case, there is no ambiguity. Legally, individuals under the age of 13 are incapable of giving consent for sexual activity. Therefore, it is typically necessary to disclose this information. If there is a decision to withhold this information, it should be discussed with a designated doctor for child protection and documented appropriately. This is an uncommon occurrence. As the patient is under 13, she is unable to provide consent for sexual activity. While it may be necessary to discuss the situation with the patient’s mother, this is not the most urgent responsibility. The primary duty is to report the incident to the appropriate authority, and it cannot be left in the hands of the patient.

      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 5 - A 6-year-old boy is brought to the GP by his father due to...

    Incorrect

    • A 6-year-old boy is brought to the GP by his father due to a loud, harsh cough that has persisted for the past 2 weeks. The child has also been more lethargic than usual. Although he appears to be in good health, you observe 2 coughing fits during the consultation, which cause the child distress and difficulty breathing, resulting in a loud, harsh inspiratory noise between coughing fits. The patient has no known allergies or medical history, but his vaccination record is unclear since he moved to the UK from another country 3 years ago. The patient's temperature is 37.5ÂșC.
      What is the most appropriate course of action?

      Your Answer:

      Correct Answer: Prescribe azithromycin and report to Public Health England

      Explanation:

      Whooping cough must be reported to Public Health England as it is a notifiable disease. According to NICE guidelines, oral azithromycin can be used to treat the disease within the first 21 days of symptoms. If the patient presents later than this, antibiotic therapy is not necessary. Salbutamol nebulisers are not a suitable treatment option as antibiotics are required.

      Whooping Cough: Causes, Symptoms, Diagnosis, and Management

      Whooping cough, also known as pertussis, is a contagious disease caused by the bacterium Bordetella pertussis. It is commonly found in children, with around 1,000 cases reported annually in the UK. The disease is characterized by a persistent cough that can last up to 100 days, hence the name cough of 100 days.

      Infants are particularly vulnerable to whooping cough, which is why routine immunization is recommended at 2, 3, 4 months, and 3-5 years. However, neither infection nor immunization provides lifelong protection, and adolescents and adults may still develop the disease.

      Whooping cough has three phases: the catarrhal phase, the paroxysmal phase, and the convalescent phase. The catarrhal phase lasts around 1-2 weeks and presents symptoms similar to a viral upper respiratory tract infection. The paroxysmal phase is characterized by a severe cough that worsens at night and after feeding, and may be accompanied by vomiting and central cyanosis. The convalescent phase is when the cough subsides over weeks to months.

      To diagnose whooping cough, a person must have an acute cough that has lasted for 14 days or more without another apparent cause, and have one or more of the following features: paroxysmal cough, inspiratory whoop, post-tussive vomiting, or undiagnosed apnoeic attacks in young infants. A nasal swab culture for Bordetella pertussis is used to confirm the diagnosis, although PCR and serology are increasingly used.

      Infants under 6 months with suspected pertussis should be admitted, and in the UK, pertussis is a notifiable disease. An oral macrolide, such as clarithromycin, azithromycin, or erythromycin, is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread. Household contacts should be offered antibiotic prophylaxis, although antibiotic therapy has not been shown to alter the course of the illness. School exclusion is recommended for 48 hours after commencing antibiotics or 21 days from onset of symptoms if no antibiotics are given.

      Complications of whooping cough include subconjunctival haemorrhage, pneumonia, bronchiectasis, and

    • This question is part of the following fields:

      • Paediatrics
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  • Question 6 - What is the preferred investigation to detect renal scarring in a pediatric patient...

    Incorrect

    • What is the preferred investigation to detect renal scarring in a pediatric patient with vesicoureteral reflux?

      Your Answer:

      Correct Answer: Radionuclide scan using dimercaptosuccinic acid (DMSA)

      Explanation:

      Understanding Vesicoureteric Reflux

      Vesicoureteric reflux (VUR) is a condition where urine flows back from the bladder into the ureter and kidney. This is a common urinary tract abnormality in children and can lead to urinary tract infections (UTIs). In fact, around 30% of children who present with a UTI have VUR. It is important to investigate for VUR in children following a UTI as around 35% of children develop renal scarring.

      The pathophysiology of VUR involves the ureters being displaced laterally, which causes a shortened intramural course of the ureter. This means that the vesicoureteric junction cannot function properly. VUR can present in different ways, such as hydronephrosis on ultrasound during the antenatal period, recurrent childhood UTIs, and reflux nephropathy, which is chronic pyelonephritis secondary to VUR. Renal scarring can also produce increased quantities of renin, which can cause hypertension.

      To diagnose VUR, a micturating cystourethrogram is usually performed. A DMSA scan may also be done to check for renal scarring. VUR is graded based on the severity of the condition, with Grade I being the mildest and Grade V being the most severe.

      Overall, understanding VUR is important in preventing complications such as UTIs and renal scarring. Early diagnosis and management can help improve outcomes for children with this condition.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 7 - A 6-month-old girl with poor weight gain is brought to see the pediatrician....

    Incorrect

    • A 6-month-old girl with poor weight gain is brought to see the pediatrician. Her growth has slowed crossing 1 centile but her weight has fallen from 50th to 9th centile in the last two months.
      She began weaning at 4 months with a variety of foods. Her mother says she eats well and has no other specific symptoms. On examination she appears emaciated with abdominal distension. She is rolling over and making appropriate cooing sounds.
      What is the probable diagnosis?

      Your Answer:

      Correct Answer: Gluten-sensitive enteropathy

      Explanation:

      Coeliac Disease and Failure to Thrive in Children

      Coeliac disease is a condition that usually appears after weaning and is characterized by gastrointestinal symptoms and weight loss. In children, failure to thrive may be a sign of coeliac disease, especially if they eat well and have been weaned at an appropriate age. Abdominal distension, vomiting, diarrhoea, and weight loss are the most common symptoms of coeliac disease, but it can also present with muscle wasting, anaemia, and vitamin deficiencies.

      Cystic fibrosis is another condition that can cause failure to thrive, but it typically presents with a history of respiratory infections or meconium ileus in childhood. If tests for coeliac disease are negative, cystic fibrosis may be considered. Cushing’s syndrome can cause central adiposity with muscle wasting, but it is not the same as abdominal distension. Hyperthyroidism is extremely rare during infancy, and lactose intolerance presents with marked vomiting and diarrhoea, which is not consistent with the timing of weaning seen in coeliac disease.

      In summary, failure to thrive in children may be a sign of coeliac disease, especially if they have been weaned at an appropriate age and are eating well. Other conditions, such as cystic fibrosis, Cushing’s syndrome, hyperthyroidism, and lactose intolerance, should also be considered and ruled out through appropriate testing.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 8 - A mother brings her 18-day old baby to the emergency department with visible...

    Incorrect

    • A mother brings her 18-day old baby to the emergency department with visible jaundice and distress. The baby has been feeding poorly since yesterday. Upon examination, hepatomegaly and splenomegaly are observed. The newborn jaundice screen shows no infection, normal thyroid function tests, raised conjugated bilirubin, liver transaminases, and bile acids. Reducing substances are absent in the urine. What is the initial management option for the most probable diagnosis?

      Your Answer:

      Correct Answer: Surgical intervention

      Explanation:

      Biliary atresia is diagnosed when a newborn presents with prolonged jaundice, hepatomegaly, splenomegaly, abnormal growth, and cardiac murmurs. Surgery is the preferred treatment, specifically a hepatoportoenterostomy (HPE), also known as Kasai portoenterostomy. This procedure removes the blocked bile ducts and replaces them with a segment of the small intestine, restoring bile flow from the liver to the proximal small bowel. Ursodeoxycholic acid may be given as an adjuvant after surgery to facilitate bile flow and protect the liver. However, it should not be given if the total bilirubin is >256.6 micromol/L (>15 mg/dL). Frequent monitoring is not sufficient, urgent action is required. Liver transplant is not the first-line treatment, but may be considered if HPE is unsuccessful or if there are signs of end-stage liver disease, progressive cholestasis, hepatocellular decompensation, or severe portal hypertension.

      Understanding Biliary Atresia in Neonatal Children

      Biliary atresia is a condition that affects the extrahepatic biliary system in neonatal children, resulting in an obstruction in the flow of bile. This condition is more common in females than males and occurs in 1 in every 10,000-15,000 live births. There are three types of biliary atresia, with type 3 being the most common. Patients typically present with jaundice, dark urine, pale stools, and abnormal growth.

      To diagnose biliary atresia, doctors may perform various tests, including serum bilirubin, liver function tests, serum alpha 1-antitrypsin, sweat chloride test, and ultrasound of the biliary tree and liver. Surgical intervention is the only definitive treatment for biliary atresia, and medical intervention includes antibiotic coverage and bile acid enhancers following surgery.

      Complications of biliary atresia include unsuccessful anastomosis formation, progressive liver disease, cirrhosis, and eventual hepatocellular carcinoma. However, the prognosis is good if surgery is successful. In cases where surgery fails, liver transplantation may be required in the first two years of life. Overall, understanding biliary atresia is crucial for early diagnosis and effective management in neonatal children.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 9 - A 4-year-old girl is brought to the GP by her father who is...

    Incorrect

    • A 4-year-old girl is brought to the GP by her father who is concerned about her growth. He reports that she is not keeping up with her peers in terms of height and weight. The girl has been experiencing smelly diarrhoea around 4-5 times per week and complains of stomach pain.
      During the examination, the GP notes that the girl's abdomen is distended and her buttocks appear wasted. Her growth chart shows a drop of 2 centile lines, now placing her on the 10th centile.
      Which investigation is most likely to lead to a diagnosis?

      Your Answer:

      Correct Answer: IgA TTG antibodies

      Explanation:

      The most probable diagnosis in this case is coeliac disease, which can be confirmed by testing for IgA TTG antibodies. To determine the appropriate antibiotic, a stool sample would be necessary to diagnose gastroenteritis. The hydrogen breath test is typically used to diagnose irritable bowel syndrome or certain food intolerances. Endoscopy is more frequently used in adults who are suspected of having cancer. An abdominal X-ray may be beneficial in cases where obstruction is suspected. Coeliac disease is a digestive disorder that is becoming more prevalent and is characterized by an adverse reaction to gluten, a protein found in wheat, barley, and rye.

      Coeliac Disease in Children: Causes, Symptoms, and Diagnosis

      Coeliac disease is a condition that affects children and is caused by sensitivity to gluten, a protein found in cereals. This sensitivity leads to villous atrophy, which causes malabsorption. Children usually present with symptoms before the age of 3, coinciding with the introduction of cereals into their diet. The incidence of coeliac disease is around 1 in 100 and is strongly associated with HLA-DQ2 and HLA-DQ8. Symptoms of coeliac disease include failure to thrive, diarrhoea, abdominal distension, and anaemia in older children. However, many cases are not diagnosed until adulthood.

      Diagnosis of coeliac disease involves a jejunal biopsy showing subtotal villous atrophy. Screening tests such as anti-endomysial and anti-gliadin antibodies are also useful. Duodenal biopsies can show complete atrophy of the villi with flat mucosa and marked crypt hyperplasia, as well as dense mixed inflammatory infiltrate in the lamina propria. Increased number of intraepithelial lymphocytes and vacuolated superficial epithelial cells can also be observed.

      In summary, coeliac disease is a condition that affects children and is caused by sensitivity to gluten. It is important to be aware of the symptoms and to seek medical attention if necessary. Diagnosis involves a biopsy and screening tests, and treatment involves a gluten-free diet.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 10 - You are requested to assess a 3-month-old infant who has a significant, solitary...

    Incorrect

    • You are requested to assess a 3-month-old infant who has a significant, solitary ventricular septal defect (VSD). What clinical manifestation might be observed?

      Your Answer:

      Correct Answer: Laterally displaced apex beat

      Explanation:

      Painless haematuria, or blood in the urine, is the most common symptom reported by individuals with bladder cancer.
      This should be taken seriously and prompt a thorough history and examination, with a view for urgent referral to urology.
      Other indicators include smoking, a palpable mass, and occupational exposure to aniline dyes.
      However, the latter is becoming increasingly rare.
      Age is also a factor, with men over the age of 50 having a greater risk.

      It is important to note that alcohol intake is not linked to bladder cancer, but smoking has a very strong association.
      In terms of occupation, those who work with aniline dyes and rubber are more predisposed to bladder cancer.
      On the other hand, urinary frequency is a non-specific symptom that can occur in prostate conditions and urinary tract infections, and therefore would not in isolation point to bladder cancer.

      In summary, the indicators of bladder cancer is crucial in identifying and treating the disease early on.
      Painless haematuria, smoking, a palpable mass, and occupational exposure to aniline dyes are all factors to consider, while age and alcohol intake are less significant.
      It is important to seek medical attention if any of these symptoms are present.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 11 - A 6-month-old girl is brought to the emergency department by her worried father....

    Incorrect

    • A 6-month-old girl is brought to the emergency department by her worried father. He reports that she has had a low-grade fever and a runny nose for the past week, and in the last few days, she has been struggling to breathe and making grunting noises. He is concerned because she is not eating well and her diapers are not as wet as usual. Upon examination, you observe chest retractions, wheezing, and bilateral inspiratory crackles.
      What is the most suitable treatment for the probable diagnosis?

      Your Answer:

      Correct Answer: Admit for supportive treatment

      Explanation:

      The appropriate action for a child with bronchiolitis is to admit them for supportive treatment, as antibiotics are not necessary. This condition is typically caused by RSV and can be managed with supportive care. However, if the child is experiencing severe respiratory distress and a significant reduction in feeding, they should be admitted to the hospital for treatment. Admitting for IV antibiotics would not be appropriate unless pneumonia or another bacterial infection was suspected. Salbutamol nebulisers are not typically effective for bronchiolitis. Discharging the child home with advice or oral antibiotics would not be appropriate if they are showing signs of potentially serious illness.

      Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

      Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 12 - A 6-month-old girl is not gaining weight and has had repeated chest infections...

    Incorrect

    • A 6-month-old girl is not gaining weight and has had repeated chest infections since birth. During examination, she appears weak and undernourished. A continuous murmur is heard most prominently under the left clavicle upon auscultation of the precordium. What is the most probable diagnosis?

      Your Answer:

      Correct Answer: Patent ductus arteriosus

      Explanation:

      The conditions that can cause poor weight gain and recurrent infections have similar symptoms, but the type of murmur heard can help differentiate between them. A continuous murmur is associated with Patent ductus, while Pulmonary stenosis presents with a systolic murmur. The symptoms described rule out an innocent murmur, which is a normal sound heard during circulation and disappears with age. ASD’s have a fixed split S2 sound due to increased venous return overloading the right ventricle during inspiration, delaying closure of the pulmonary valve. VSD is associated with a pansystolic murmur.

      Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.

      The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.

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      • Paediatrics
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  • Question 13 - You are conducting an 8-month well-baby visit for a boy and his mother....

    Incorrect

    • You are conducting an 8-month well-baby visit for a boy and his mother. The physical examination is normal, and you proceed to discuss the child's immunizations. The mother expresses concern about recent measles outbreaks and asks when her son should receive the first dose of the MMR vaccine.

      When is the MMR vaccine typically administered as part of routine immunizations?

      Your Answer:

      Correct Answer: At 12-13 months of age

      Explanation:

      The MMR vaccine is administered as a standard practice when a child reaches 12-13 months of age, and then again during the preschool booster at 3-4 years old.

      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 14 - When do most infants begin to smile? ...

    Incorrect

    • When do most infants begin to smile?

      Your Answer:

      Correct Answer: 6 weeks

      Explanation:

      The table summarizes developmental milestones for social behavior, feeding, dressing, and play. Milestones include smiling at 6 weeks, using a spoon and cup at 12-15 months, and playing with other children at 4 years.

    • This question is part of the following fields:

      • Paediatrics
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  • Question 15 - A 5-year-old girl is brought to the GP by her mother for an...

    Incorrect

    • A 5-year-old girl is brought to the GP by her mother for an asthma review. She was diagnosed with asthma eight months ago. Since then, she has been using a low-dose clenil (beclomethasone 100 ÎŒg BD) inhaler and salbutamol inhaler as needed, both inhaled via a spacer. She has been experiencing a nocturnal cough and has been using her salbutamol inhaler 3–4 times per day due to the cold weather, with good results. On examination, there are no signs of respiratory distress, her oxygen saturation is 98%, and her chest is clear.
      What would be the next step in managing this patient?

      Your Answer:

      Correct Answer: Add montelukast

      Explanation:

      Treatment Approach for Suspected Asthma in Children Under Five Years Old

      When a child under five years old is suspected to have asthma, the diagnosis can be challenging as they cannot perform objective lung function tests. Therefore, a low threshold for referral is recommended if treatment fails to control symptoms.

      The first step in treatment is a trial of a moderate-dose inhaled corticosteroid (ICS) for eight weeks. If symptoms persist, adding a leukotriene receptor antagonist (LTRA) is recommended. However, if the asthma is still poorly controlled, referral to a paediatrician is advised.

      It is not appropriate to change the short-acting beta agonist (SABA) inhaler, but increasing the dose of the ICS should only be done under specialist advice. If the child needs to use a SABA inhaler regularly, the ICS should be stopped for four weeks, and if symptoms recur, the inhaler should be restarted at a low dose.

      In summary, a stepwise approach is recommended for treating suspected asthma in children under five years old, with a low threshold for referral to a specialist if treatment fails to control symptoms.

      Treatment Approach for Suspected Asthma in Children Under Five Years Old

    • This question is part of the following fields:

      • Paediatrics
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  • Question 16 - A 14-year-old boy presents to the clinic for a routine check-up due to...

    Incorrect

    • A 14-year-old boy presents to the clinic for a routine check-up due to his recent development of poor near vision, without any history of eye trauma. He is tall, measuring at the 99th percentile for his age, and is performing well in school. During the medical history, he reports experiencing fatigue easily during physical activity. Upon examination, you observe that he has a high arched palate, pectus excavatum, and long arms. Additionally, you notice a bounding pulse and an early diastolic murmur at the left sternal edge during the cardiovascular exam. What is the most likely diagnosis?

      Your Answer:

      Correct Answer: Marfan syndrome

      Explanation:

      Marfan syndrome is a connective tissue disease with cardiovascular complications such as aortic root dilation and aneurysm. Diagnosis is based on clinical features, family history, and genetic testing. The Ghent criteria are commonly used, with emphasis on cardiac manifestations. Echocardiographic surveillance is required, and prophylactic medications are used to reduce the chance of aortic root dilation. Aortic regurgitation may require surgery. Marfan syndrome is associated with non-cardiac features, and the clinical criteria can be found on the American National Marfan Foundation website.

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      • Paediatrics
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  • Question 17 - A 2-month-old baby is brought to the GP clinic by their parent for...

    Incorrect

    • A 2-month-old baby is brought to the GP clinic by their parent for their first round of vaccinations. What vaccinations are recommended for this visit?

      Your Answer:

      Correct Answer: 6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B), one dose Men B (vaccine for group B meningococcal disease) and one dose of Rotavirus vaccine

      Explanation:

      The recommended vaccination schedule includes the 6-in-1 vaccine for diphtheria, tetanus, whooping cough, polio, Hib, and hepatitis B, as well as one dose each of the MMR vaccine for measles, mumps, and rubella, and the Rotavirus vaccine.

      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.

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  • Question 18 - A 4-day-old male infant is presenting with progressive abdominal distension. He has not...

    Incorrect

    • A 4-day-old male infant is presenting with progressive abdominal distension. He has not had a bowel movement since birth. Digital rectal examination results in the expulsion of explosive feces. No additional information is obtained from abdominal examination or blood tests.

      What is the conclusive measure for diagnosis?

      Your Answer:

      Correct Answer: Suction-assisted full-thickness rectal biopsies

      Explanation:

      Diagnostic Procedures for Hirschsprung’s Disease

      Hirschsprung’s disease is a rare condition that causes functional intestinal obstruction due to the absence of ganglion cells in the distal colon. Diagnosis of this condition requires specific diagnostic procedures. One such procedure is suction-assisted full-thickness rectal biopsies, which demonstrate the lack of ganglion cells in Auerbach’s plexus. Other diagnostic procedures, such as contrast-enhanced CT scans, ultrasound of the hernial orifices, upper GI fluoroscopy studies, and sigmoidoscopy with rectal mucosal biopsies, are not as effective in diagnosing Hirschsprung’s disease. It is important to accurately diagnose this condition to ensure appropriate treatment and management.

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  • Question 19 - A 5-year-old girl was released from the hospital eight weeks ago following an...

    Incorrect

    • A 5-year-old girl was released from the hospital eight weeks ago following an episode of viral gastroenteritis. She has been experiencing 4-5 loose stools per day for the past six weeks. What is the probable diagnosis?

      Your Answer:

      Correct Answer: Lactose intolerance

      Explanation:

      Viral gastroenteritis often leads to transient lactose intolerance, which can be resolved by eliminating lactose from the diet for a few months and then gradually reintroducing it.

      Understanding Diarrhoea in Children

      Diarrhoea is a common condition in children that can be caused by various factors. One of the most common causes is gastroenteritis, which is often accompanied by fever and vomiting for the first two days. The main risk associated with this condition is severe dehydration, which can be life-threatening if left untreated. The most common cause of gastroenteritis is rotavirus, and the diarrhoea may last up to a week. The treatment for this condition is rehydration.

      Chronic diarrhoea is another type of diarrhoea that can affect infants and toddlers. In the developed world, the most common cause of chronic diarrhoea in infants is cow’s’ milk intolerance. Toddler diarrhoea, on the other hand, is characterized by stools that vary in consistency and often contain undigested food. Other causes of chronic diarrhoea in children include coeliac disease and post-gastroenteritis lactose intolerance.

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  • Question 20 - A newborn is 24 hours old and was born at term. The mother...

    Incorrect

    • A newborn is 24 hours old and was born at term. The mother had gestational diabetes during her pregnancy. The mother has chosen to exclusively formula feed the baby. The infant is currently comfortable on the postnatal ward, and the latest capillary blood glucose reading is 2.3mmol/L. The physical examination shows no abnormalities.
      What is the recommended course of action for management?

      Your Answer:

      Correct Answer: Encourage formula feeding

      Explanation:

      Dextrose intravenously or glucose gel would be necessary only if the baby remained hypoglycemic despite the standard feeding method or exhibited symptoms. Therefore, these responses are incorrect.

      Neonatal Hypoglycaemia: Causes, Symptoms, and Management

      Neonatal hypoglycaemia is a common condition in newborn babies, especially in the first 24 hours of life. While there is no agreed definition, a blood glucose level of less than 2.6 mmol/L is often used as a guideline. Transient hypoglycaemia is normal and usually resolves on its own, but persistent or severe hypoglycaemia may be caused by various factors such as preterm birth, maternal diabetes mellitus, IUGR, hypothermia, neonatal sepsis, inborn errors of metabolism, nesidioblastosis, or Beckwith-Wiedemann syndrome.

      Symptoms of neonatal hypoglycaemia can be autonomic, such as jitteriness, irritability, tachypnoea, and pallor, or neuroglycopenic, such as poor feeding/sucking, weak cry, drowsiness, hypotonia, and seizures. Other features may include apnoea and hypothermia. Management of neonatal hypoglycaemia depends on the severity of the condition and whether the newborn is symptomatic or not. Asymptomatic babies can be encouraged to feed normally and have their blood glucose monitored, while symptomatic or severely hypoglycaemic babies may need to be admitted to the neonatal unit and receive intravenous infusion of 10% dextrose.

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  • Question 21 - A 4-week-old baby girl is brought to the GP with feeding difficulties, increased...

    Incorrect

    • A 4-week-old baby girl is brought to the GP with feeding difficulties, increased respiratory effort, and poor weight gain over the past two weeks. During the examination, the GP notes a parasternal heave and a loud systolic murmur at the lower left sternal border.
      What is the true statement about this condition?

      Your Answer:

      Correct Answer: Following closure of this defect, the patient is no longer considered at high risk of developing infective endocarditis

      Explanation:

      Understanding Ventricular Septal Defect (VSD)

      Ventricular septal defect (VSD) is a heart condition where there is a hole in the wall separating the two lower chambers of the heart. Here are some important points to know about VSD:

      Closure of the defect reduces the risk of infective endocarditis: Once the VSD is surgically repaired, the patient is no longer considered at high risk of developing infective endocarditis. Therefore, prophylactic antibiotics are not required before high-risk procedures.

      Cardiac catheterisation is not always necessary for diagnosis: While cardiac catheterisation was previously used to diagnose VSD, echocardiography methods have advanced, making it less invasive and more accurate.

      Prophylactic antibiotics are not always necessary for dental procedures: Patients with surgically repaired VSD are not considered at high risk of developing infective endocarditis following dental work, so prophylactic antibiotics are not indicated. However, immunocompromised patients may require antibiotics.

      Spontaneous closure is more common in infants: VSDs in infants under one year of age are more likely to close spontaneously. After the age of two, spontaneous closure is less likely.

      Surgical repair is indicated for uncontrolled heart failure: If a patient with VSD shows signs of uncontrolled heart failure, including poor growth, surgical repair may be necessary.

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  • Question 22 - A 3-year-old girl presents to the Emergency Department with a 2-day history of...

    Incorrect

    • A 3-year-old girl presents to the Emergency Department with a 2-day history of diarrhoea and vomiting. She has only had small amounts to drink and is becoming increasingly lethargic. She has had five bowel movements but has only urinated once today. She is typically healthy. Her 5-year-old sister had similar symptoms a few days ago but has since recovered. On examination, she appears restless with sunken eyes, dry mucous membranes, and a CRT of 2 seconds. She is also tachycardic with a heart rate of 150 bpm. What is your assessment of her clinical fluid status?

      Your Answer:

      Correct Answer: Clinical dehydration

      Explanation:

      Understanding Dehydration in Children: Symptoms and Management

      Dehydration is a common concern in children, especially when they are suffering from illnesses like gastroenteritis. Children have a higher percentage of body weight consisting of water, making them more susceptible to dehydration. It is important to understand the different levels of dehydration and their corresponding symptoms to manage it effectively.

      Clinical dehydration is characterized by restlessness and decreased urine output. Signs of clinical dehydration include irritability, sunken eyes, dry mucous membranes, tachycardia, and normal capillary refill time (CRT). On the other hand, a euvolaemic child will have a normal general appearance, moist tongue, and tears, with a normal CRT and no tachycardia.

      Children without clinically detectable dehydration do not show any signs or symptoms of dehydration and can be managed with oral fluids until the symptoms of gastroenteritis subside. However, children who are severely dehydrated may experience clinical shock, which is characterized by a decreased level of consciousness, pale or mottled skin, cold extremities, tachycardia, tachypnea, hypotension, weak peripheral pulses, and a prolonged CRT. These children require immediate admission and rehydration with intravenous fluid and electrolyte supplementation to normalize the losses.

      It is crucial to identify the level of dehydration in children and manage it accordingly to prevent complications. Parents and caregivers should monitor their child’s fluid intake and seek medical attention if they suspect dehydration. With proper management, most cases of dehydration in children can be resolved without any long-term effects.

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  • Question 23 - You are asked to review an infant with a postnatal diagnosis of congenital...

    Incorrect

    • You are asked to review an infant with a postnatal diagnosis of congenital diaphragmatic hernia. They are currently stable after receiving initial medical management. The parents have conducted some research on the condition and have some inquiries for you. What is a true statement about congenital diaphragmatic hernia?

      Your Answer:

      Correct Answer: The presence of the liver in the thoracic cavity is a poor prognostic factor for CDH

      Explanation:

      CDH poses a greater risk of pulmonary hypertension as opposed to systemic hypertension. The risk is further heightened in cases where a sibling has a history of the condition.

      Understanding Congenital Diaphragmatic Hernia

      Congenital diaphragmatic hernia (CDH) is a rare condition that affects approximately 1 in 2,000 newborns. It occurs when the diaphragm, a muscle that separates the chest and abdominal cavities, fails to form completely during fetal development. As a result, abdominal organs can move into the chest cavity, which can lead to underdeveloped lungs and high blood pressure in the lungs. This can cause respiratory distress shortly after birth.

      The most common type of CDH is a left-sided posterolateral Bochdalek hernia, which accounts for about 85% of cases. This type of hernia occurs when the pleuroperitoneal canal, a structure that connects the chest and abdominal cavities during fetal development, fails to close properly.

      Despite advances in medical treatment, only about 50% of newborns with CDH survive. Early diagnosis and prompt treatment are crucial for improving outcomes. Treatment may involve surgery to repair the diaphragm and move the abdominal organs back into their proper position. In some cases, a ventilator or extracorporeal membrane oxygenation (ECMO) may be necessary to support breathing until the lungs can function properly. Ongoing care and monitoring are also important to manage any long-term complications that may arise.

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  • Question 24 - A mother who has recently moved brings her 9-year-old child to a new...

    Incorrect

    • A mother who has recently moved brings her 9-year-old child to a new local GP for the first time to check for thyroid issues. During the examination, the GP observes that the child has a short neck, flattened nose, and is of short stature. Additionally, the GP notices prominent epicanthic folds and a single palmar crease. What long-term condition is this child at a higher risk for?

      Your Answer:

      Correct Answer: Alzheimer's disease

      Explanation:

      It is believed that around 50% of individuals over the age of 85 may suffer from Alzheimer’s. Asthma is an incorrect option as there is no evidence to suggest that individuals with Down syndrome are at a higher risk of developing the condition. The patient was brought in for a thyroid check as there is a link between hypothyroidism and Down syndrome, but no association between Down syndrome and hyperthyroidism exists, making this option incorrect. While acute lymphocytic leukemia (ALL) is associated with Down syndrome, lymphoma is not, making it an incorrect option.

      Down’s syndrome is a genetic disorder that is characterized by various clinical features. These features include an upslanting of the palpebral fissures, epicanthic folds, Brushfield spots in the iris, a protruding tongue, small low-set ears, and a round or flat face. Additionally, individuals with Down’s syndrome may have a flat occiput, a single palmar crease, and a pronounced sandal gap between their big and first toe. Hypotonia, congenital heart defects, duodenal atresia, and Hirschsprung’s disease are also common in individuals with Down’s syndrome.

      Cardiac complications are also prevalent in individuals with Down’s syndrome, with multiple cardiac problems potentially present. The most common cardiac defect is the endocardial cushion defect, also known as atrioventricular septal canal defects, which affects 40% of individuals with Down’s syndrome. Other cardiac defects include ventricular septal defect, secundum atrial septal defect, tetralogy of Fallot, and isolated patent ductus arteriosus.

      Later complications of Down’s syndrome include subfertility, learning difficulties, short stature, repeated respiratory infections, hearing impairment from glue ear, acute lymphoblastic leukaemia, hypothyroidism, Alzheimer’s disease, and atlantoaxial instability. Males with Down’s syndrome are almost always infertile due to impaired spermatogenesis, while females are usually subfertile and have an increased incidence of problems with pregnancy and labour.

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  • Question 25 - An 8-year-old is referred to paediatric clinic by a GP due to concerns...

    Incorrect

    • An 8-year-old is referred to paediatric clinic by a GP due to concerns about an incidental murmur. The child is healthy and shows no symptoms. Upon examination, the paediatrician diagnoses a benign ejection systolic murmur. What is a characteristic of this type of murmur?

      Your Answer:

      Correct Answer: Varies with posture

      Explanation:

      A postural variation is observed in a benign ejection systolic murmur. Conversely, all other characteristics are indicative of pathological murmurs. The presence of even mild symptoms is concerning, as it suggests that the murmur is not benign.

      Innocent murmurs are common in children and are usually harmless. There are different types of innocent murmurs, including ejection murmurs, venous hums, and Still’s murmur. Ejection murmurs are caused by turbulent blood flow at the outflow tract of the heart, while venous hums are due to turbulent blood flow in the great veins returning to the heart. Still’s murmur is a low-pitched sound heard at the lower left sternal edge.

      An innocent ejection murmur is characterized by a soft-blowing murmur in the pulmonary area or a short buzzing murmur in the aortic area. It may vary with posture and is localized without radiation. There is no diastolic component, no thrill, and no added sounds such as clicks. The child is usually asymptomatic, and there are no other abnormalities.

      Overall, innocent murmurs are not a cause for concern and do not require treatment. However, if a child has symptoms such as chest pain, shortness of breath, or fainting, further evaluation may be necessary to rule out any underlying heart conditions.

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  • Question 26 - A 6-week-old baby and their mum come to the hospital for their postnatal...

    Incorrect

    • A 6-week-old baby and their mum come to the hospital for their postnatal baby check. The infant has an asymmetrical skinfold around their hips. The skin folds under the buttocks and on the thighs are not aligning properly.
      What is the most suitable test to confirm the diagnosis?

      Your Answer:

      Correct Answer: Ultrasound scan of the hip

      Explanation:

      Diagnostic Tests for Developmental Hip Dysplasia

      Developmental hip dysplasia is a condition that must be detected early for effective treatment. Clinical tests such as Barlows and Ortolani’s manoeuvres can screen for the condition, but an ultrasound scan of the hips is the gold standard for diagnosis and grading of severity. Asymmetrical skinfolds, limited hip movement, leg length discrepancy, and abnormal gait are also clues to the diagnosis. Isotope bone scans have no place in the diagnosis of developmental hip dysplasia. X-rays may be used in older children, but plain film X-rays do not exclude hip instability. Early detection and treatment with conservative management can prevent the need for complex surgery.

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  • Question 27 - A teenager attends the GP with his mother who is concerned about his...

    Incorrect

    • A teenager attends the GP with his mother who is concerned about his height. The GP charts the teenager's height on a growth chart and finds him to be in the 5th percentile. At birth, he was in the 50th percentile. However, the teenager's developmental milestones are normal, and he appears to be content with himself. What is the most appropriate next step in managing this teenager?

      Your Answer:

      Correct Answer: Make a referral to the the paediatric outpatients clinic

      Explanation:

      A paediatrician should review children who fall below the 0.4th centile for height. Referral is the appropriate course of action as it is not an urgent matter. While waiting for the review, it is advisable to conduct thyroid function tests and insulin-like growth factor tests on the child.

      Understanding Growth and Factors Affecting It

      Growth is a significant aspect that distinguishes children from adults. It occurs in three stages: infancy, childhood, and puberty. Several factors affect fetal growth, including environmental, placental, hormonal, and genetic factors. Maternal nutrition and uterine capacity are the most crucial environmental factors that affect fetal growth.

      During infancy, nutrition and insulin are the primary drivers of growth. Insulin plays a significant role in fetal growth, as high levels of insulin in a mother with poorly controlled diabetes can result in hypoglycemia and macrosomia in the baby. In childhood, growth hormone and thyroxine drive growth, while in puberty, growth hormone and sex steroids are the primary drivers. Genetic factors are the most important determinant of final adult height.

      It is essential to monitor growth regularly to ensure that children are growing at a healthy rate. Infants aged 0-1 years should have at least five weight recordings, while children aged 1-2 years should have at least three weight recordings. Children older than two years should have annual weight recordings. Children below the 2nd centile for height should be reviewed by their GP, while those below the 0.4th centile for height should be reviewed by a paediatrician. Understanding growth and the factors that affect it is crucial for ensuring healthy development in children.

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  • Question 28 - A 3-year-old child is admitted with poor appetite. Over the last 24 hours,...

    Incorrect

    • A 3-year-old child is admitted with poor appetite. Over the last 24 hours, they have eaten only 25% of their usual amount and have had significantly fewer wet diapers than usual. The child has been particularly irritable over this time and is not settling. There is no past medical history, no known allergies, and there has been no travel outside of the UK.

      On examination, the child appears unsettled and grouchy. There are no rashes on exposure and the fontanelles appear normal. The physical observations reveal tachycardia and a fever of 39ÂșC. When you attempt to manually flex the child's neck you note that they also flex the hips and knees.

      What is the most appropriate empirical intravenous treatment for this child?

      Your Answer:

      Correct Answer: Ceftriaxone

      Explanation:

      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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  • Question 29 - A 14-year-old teenage girl comes to the clinic with concerns about delayed puberty...

    Incorrect

    • A 14-year-old teenage girl comes to the clinic with concerns about delayed puberty and not having started her menstrual cycle. She reports feeling generally well and has no significant medical history. During the examination, it is noted that she has a slender build and underdeveloped breasts. There is no pubic hair present. Upon palpation, marble-sized swellings are felt in both groins. What is the most probable cause of her presentation?

      Your Answer:

      Correct Answer: Androgen insensitivity

      Explanation:

      The classic presentation of androgen insensitivity is primary amenorrhoea, with the key symptom being groin swellings. When combined with the absence of pubic hair, this points towards a diagnosis of androgen insensitivity, also known as testicular feminisation syndrome. This condition occurs in individuals who are genetically male (46XY) but appear phenotypically female due to increased oestradiol levels, which cause breast development. The groin swellings in this case are undescended testes. While non-Hodgkin’s lymphoma could also cause groin swellings, it is less likely as it would typically present with systemic symptoms and is not a common cause of delayed puberty.

      Disorders of sex hormones can have various effects on the body, as shown in the table below. Primary hypogonadism, also known as Klinefelter’s syndrome, is characterized by high levels of LH and low levels of testosterone. Patients with this disorder often have small, firm testes, lack secondary sexual characteristics, and are infertile. They may also experience gynaecomastia and have an increased risk of breast cancer. Diagnosis is made through chromosomal analysis.

      Hypogonadotrophic hypogonadism, or Kallmann syndrome, is another cause of delayed puberty. It is typically inherited as an X-linked recessive trait and is caused by the failure of GnRH-secreting neurons to migrate to the hypothalamus. Patients with Kallmann syndrome may have hypogonadism, cryptorchidism, and anosmia. Sex hormone levels are low, and LH and FSH levels are inappropriately low or normal. Cleft lip/palate and visual/hearing defects may also be present.

      Androgen insensitivity syndrome is an X-linked recessive condition that causes end-organ resistance to testosterone, resulting in genotypically male children (46XY) having a female phenotype. Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome. Patients with this disorder may experience primary amenorrhoea, undescended testes causing groin swellings, and breast development due to the conversion of testosterone to oestradiol. Diagnosis is made through a buccal smear or chromosomal analysis to reveal a 46XY genotype. Management includes counseling to raise the child as female, bilateral orchidectomy due to an increased risk of testicular cancer from undescended testes, and oestrogen therapy.

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  • Question 30 - You are requested to assess an infant in the neonatal unit. The baby...

    Incorrect

    • You are requested to assess an infant in the neonatal unit. The baby was delivered at 39 weeks gestation without any complications. The parents are hesitant to give their consent for vitamin K administration, citing their preference for a more natural approach. How would you advise the parents on the recommended practice for neonatal vitamin K?

      Your Answer:

      Correct Answer: Once-off IM injection

      Explanation:

      Vitamin K is crucial in preventing haemorrhagic disease in newborns and can be administered orally or intramuscularly. While both methods are licensed for neonates, it is advisable to recommend the IM route to parents due to concerns about compliance and the shorter duration of treatment (one-off injection). The oral form is not recommended for healthy neonates as there is a risk of inadequate dosage due to forgetfulness or the baby vomiting up the medication.

      Haemorrhagic Disease of the Newborn: Causes and Prevention

      Newborn babies have a relatively low level of vitamin K, which can lead to the development of haemorrhagic disease of the newborn (HDN). This condition occurs when the production of clotting factors is impaired, resulting in bleeding that can range from minor bruising to intracranial haemorrhages. breastfed babies are particularly at risk, as breast milk is a poor source of vitamin K. Additionally, the use of antiepileptic medication by the mother can increase the risk of HDN in the newborn.

      To prevent HDN, all newborns in the UK are offered vitamin K supplementation. This can be administered either intramuscularly or orally. By providing newborns with adequate levels of vitamin K, the risk of HDN can be significantly reduced. It is important for parents and healthcare providers to be aware of the risk factors for HDN and to take steps to prevent this potentially serious condition.

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