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Question 1
Correct
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You are a senior doctor in the paediatrics department. A fifteen year-old whose parents are devout Jehovah's witnesses requires a blood transfusion. Both parents state that they do not wish their child to have a potentially life saving transfusion. The fifteen year-old herself understands the risks and benefits of a transfusion and wishes to have the transfusion regardless.
Which of the following is correct?Your Answer: The blood can be transfused without the parents consent
Explanation:Once a child reaches the age of 16, they are considered competent to provide consent for treatment. In this case, the 16-year-old child can provide consent for the blood transfusion, but cannot refuse it. Therefore, the blood can be given as the child has provided consent. If the child were to refuse the treatment, the blood could still be given in their best interests without the consent of the child or their parents, using the Children Act 1989 and a High Court Order. However, in this particular case, such an order is not necessary. While some Jehovah witnesses may accept certain blood products, such as fresh frozen plasma or albumin, they may decline a complete blood transfusion. However, this is not appropriate in this situation. It may be advisable to contact the hospital liaison representative, but as the child is of age and understands the situation, they are able to provide consent for the treatment.
Understanding Consent in Children
The issue of consent in children can be complex and confusing. However, there are some general guidelines to follow. If a patient is under 16 years old, they may be able to consent to treatment if they are deemed competent. This is determined by the Fraser guidelines, which were previously known as Gillick competence. However, even if a child is competent, they cannot refuse treatment that is deemed to be in their best interest.
For patients between the ages of 16 and 18, it is generally assumed that they are competent to give consent to treatment. Patients who are 18 years or older can consent to or refuse treatment.
When it comes to providing contraceptives to patients under 16 years old, the Fraser Guidelines outline specific requirements that must be met. These include ensuring that the young person understands the advice given by the healthcare professional, cannot be persuaded to inform their parents, is likely to engage in sexual activity with or without treatment, and will suffer physical or mental health consequences without treatment. Ultimately, the young person’s best interests must be taken into account when deciding whether to provide contraceptive advice or treatment, with or without parental consent.
In summary, understanding consent in children requires careful consideration of age, competence, and best interests. The Fraser Guidelines provide a useful framework for healthcare professionals to follow when providing treatment and advice to young patients.
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This question is part of the following fields:
- Paediatrics
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Question 2
Incorrect
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A newborn who was born prematurely at 34 weeks gestation is now under the care of the Practice. The baby did not experience any significant complications, such as respiratory issues, after birth. How should routine childhood vaccinations be administered?
Your Answer: Adjust schedule for gestational age
Correct Answer: Give according to chronological age
Explanation:It is recommended that premature babies receive their routine vaccinations based on their chronological age, without any adjustment for their gestational age. However, if a baby was born before 28 weeks of gestation, it is advisable to administer their initial immunizations while they are still in the hospital to minimize the risk of apnea.
Immunisation is the process of administering vaccines to protect individuals from infectious diseases. The Department of Health has provided guidance on the safe administration of vaccines in its publication ‘Immunisation against infectious disease’ in 2006. The guidance outlines general contraindications to immunisation, such as confirmed anaphylactic reactions to previous doses of a vaccine containing the same antigens or another component contained in the relevant vaccine. Vaccines should also be delayed in cases of febrile illness or intercurrent infection. Live vaccines should not be administered to pregnant women or individuals with immunosuppression.
Specific vaccines may have their own contraindications, such as deferring DTP vaccination in children with an evolving or unstable neurological condition. However, there are no contraindications to immunisation for individuals with asthma or eczema, a history of seizures (unless associated with fever), or a family history of autism. Additionally, previous natural infections with pertussis, measles, mumps, or rubella do not preclude immunisation. Other factors such as neurological conditions like Down’s or cerebral palsy, low birth weight or prematurity, and patients on replacement steroids (e.g. CAH) also do not contraindicate immunisation.
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This question is part of the following fields:
- Paediatrics
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Question 3
Incorrect
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A 5-year-old boy is brought to the Emergency Department by his parents with a 3-day history of diarrhoea; he has also vomited twice today. He is alert and responsive and his observations are within normal limits.
On examination, he has moist mucous membranes, normal skin turgor, normal skin colour, normal peripheral pulses and a normal capillary refill time. His abdomen is soft and nontender and his peripheries are warm.
What is the most appropriate initial management option for this patient?
Your Answer: Encourage intake of fluids
Correct Answer: Oral rehydration solution (ORS)
Explanation:Management of Dehydration in Children with Gastroenteritis
Gastroenteritis is a common illness in children that can lead to dehydration if not managed properly. Oral rehydration solution (ORS) is the first-line treatment for children at increased risk of dehydration, including those who have vomited more than twice in the last 24 hours or have other risk factors such as age less than one year, low birth weight, or signs of malnutrition. However, if a child is clinically dehydrated and not responding to ORS, intravenous (IV) fluids may be necessary.
It is important to encourage fluid intake in children with gastroenteritis, but carbonated drinks and fruit juices should be avoided as they can worsen diarrhea. If a child is unable to drink, an NG tube may be considered, but ORS should be attempted first. A bolus of IV fluids is only indicated in cases of suspected or confirmed shock.
Overall, prompt recognition and management of dehydration in children with gastroenteritis can prevent serious complications and improve outcomes.
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This question is part of the following fields:
- Paediatrics
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Question 4
Correct
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Sophie, a 9-month-old with a confirmed non-IgE mediated allergy to cow's milk protein, is seen in your allergy clinic. Her parents are worried about her long-term milk avoidance. At present, she is not consuming any milk-based products. What recommendations would you provide for treatment?
Your Answer: Initiate the milk ladder starting with malted milk biscuits
Explanation:Non IgE mediated cows milk protein allergy tends to resolve at a younger age compared to IgE mediated allergies in children.
The milk ladder is a common approach for introducing milk into the diet of children with cows milk protein allergy, with gradual steps starting from malted milk biscuits and progressing to chocolate and yoghurt.
It is not advisable to use Chlorpheniramine (piriton) as it can cause drowsiness in this age group. Additionally, an epipen is not necessary for non IgE mediated allergy.
Understanding Cow’s Milk Protein Intolerance/Allergy
Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.
Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.
The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.
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This question is part of the following fields:
- Paediatrics
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Question 5
Incorrect
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A mother brings her 5-year-old son to the clinic as she is worried about his bedwetting habit. Unlike his older sibling who stopped bedwetting at the age of 4, this child still wets the bed at night. The mother is seeking advice on possible treatment options. What is the best course of action to manage this issue?
Your Answer: Enuresis alarm
Correct Answer: Reassurance and advice on fluid intake, diet and toileting behaviour
Explanation:Reassurance and advice are sufficient for managing nocturnal enuresis in children under 5 years of age. It is important to reassure mothers that bedwetting is still common at the age of 4.
Nocturnal enuresis, or bedwetting, is when a child involuntarily urinates during the night. Most children achieve continence by the age of 3 or 4, so enuresis is defined as the involuntary discharge of urine in a child aged 5 or older without any underlying medical conditions. Enuresis can be primary, meaning the child has never achieved continence, or secondary, meaning the child has been dry for at least 6 months before.
When managing bedwetting, it’s important to look for any underlying causes or triggers, such as constipation, diabetes mellitus, or recent onset UTIs. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Reward systems, like star charts, can also be helpful, but should be given for agreed behavior rather than dry nights.
The first-line treatment for bedwetting is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up to use the toilet. If short-term control is needed, such as for sleepovers, or if the alarm is ineffective or not acceptable to the family, desmopressin may be prescribed. Overall, managing bedwetting involves identifying any underlying causes and implementing strategies to promote continence.
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This question is part of the following fields:
- Paediatrics
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Question 6
Incorrect
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A 6-year-old patient is brought to the emergency department by their mother due to a cough and low-grade fever that has been present for a week. The mother describes the cough as barking and confirms that the child has received all vaccinations up to this point. During the examination, suprasternal wall retraction is observed at rest, but the child appears alert and responsive. Strident breath sounds are heard while the child is at rest. What is the recommended course of action for management?
Your Answer:
Correct Answer: Admit to the paediatric ward
Explanation:Admission to the paediatric ward is necessary when a child presents with audible stridor at rest, which is a clear indication of croup. This condition is characterized by a barking cough, mild fever, and coryzal symptoms, and in moderate cases, suprasternal wall retraction may be observed. Discharging the patient with dexamethasone or antibiotics is not appropriate, as stridor at rest requires further observation. A single dose of oral dexamethasone should be administered to all children with croup, regardless of severity. Referral to ENT is not urgent and not necessary in this case.
Understanding Croup: A Respiratory Infection in Infants and Toddlers
Croup is a type of upper respiratory tract infection that commonly affects infants and toddlers. It is characterized by a barking cough, fever, and coryzal symptoms, and is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses are the most common cause of croup. The condition typically peaks between 6 months and 3 years of age, and is more prevalent during the autumn season.
The severity of croup can be graded based on the presence of symptoms such as stridor, cough, and respiratory distress. Mild cases may only have occasional barking cough and no audible stridor at rest, while severe cases may have frequent barking cough, prominent inspiratory stridor at rest, and marked sternal wall retractions. Children with moderate or severe croup, those under 6 months of age, or those with known upper airway abnormalities should be admitted to the hospital.
Diagnosis of croup is usually made based on clinical presentation, but a chest x-ray may show subglottic narrowing, commonly referred to as the steeple sign. Treatment for croup typically involves a single dose of oral dexamethasone or prednisolone, regardless of severity. In emergency situations, high-flow oxygen and nebulized adrenaline may be necessary.
Understanding croup is important for parents and healthcare providers alike, as prompt recognition and treatment can help prevent complications and improve outcomes for affected children.
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This question is part of the following fields:
- Paediatrics
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Question 7
Incorrect
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A mother brings in her 8-year-old daughter to the pediatrician's office. She is worried because she has noticed that her daughter has been showing signs of breast development for the past 3 months. The mother is concerned that her daughter may be experiencing early puberty. What course of action would you recommend?
Your Answer:
Correct Answer: Reassure her that this is normal development
Explanation:If a girl develops secondary sexual characteristics before the age of 8 and a boy before the age of 9, it is considered precocious puberty. However, if a girl is developing within the normal time frame, such as breast development, there is no need for the mother to worry or seek medical attention. Checking sex hormones or referring to a pediatric specialist is unnecessary as the child is developing normally and the breast development will continue as part of the natural pubertal process.
Understanding Precocious Puberty
Precocious puberty is a condition where secondary sexual characteristics develop earlier than expected, before the age of 8 in females and 9 in males. It is more common in females and can be classified into two types: gonadotrophin dependent and gonadotrophin independent. The former is caused by premature activation of the hypothalamic-pituitary-gonadal axis, resulting in raised levels of FSH and LH. The latter is caused by excess sex hormones, with low levels of FSH and LH. In males, precocious puberty is uncommon and usually has an organic cause, such as gonadotrophin release from an intracranial lesion, gonadal tumour, or adrenal cause. In females, it is usually idiopathic or familial and follows the normal sequence of puberty. Organic causes are rare and associated with rapid onset, neurological symptoms and signs, and dissonance, such as in McCune Albright syndrome. Understanding precocious puberty is important for early detection and management of the condition.
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This question is part of the following fields:
- Paediatrics
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Question 8
Incorrect
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A 10-year-old girl comes in for a check-up. She was diagnosed with asthma two years ago by her pediatrician. She is currently taking a salbutamol inhaler, using 2 puffs 3 times a day, and a low-dose beclomethasone inhaler. She also takes oral montelukast. However, she still experiences a night time cough and has to use her blue inhaler most days. Unfortunately, the addition of montelukast has not provided much relief. On examination today, her chest is clear with no wheeze and a near-normal peak flow. What should be the next step in her management?
Your Answer:
Correct Answer: Stop montelukast and add salmeterol
Explanation:For children between the ages of 5 and 16 with asthma that is not being effectively managed with a combination of a short-acting beta agonist (SABA), low-dose inhaled corticosteroids (ICS), and a leukotriene receptor antagonist, it is recommended to add a long-acting beta agonist (LABA) to the treatment plan and discontinue the use of the leukotriene receptor antagonist.
Managing Asthma in Children: NICE Guidelines
Asthma management in children has been updated by NICE in 2017, following the 2016 BTS guidelines. The new guidelines for children aged 5-16 are similar to those for adults, with a stepwise approach for treatment. For newly-diagnosed asthma, short-acting beta agonist (SABA) is recommended. If symptoms persist, a combination of SABA and paediatric low-dose inhaled corticosteroid (ICS) is used. Leukotriene receptor antagonist (LTRA) is added if symptoms still persist, followed by long-acting beta agonist (LABA) if necessary. Maintenance and reliever therapy (MART) is used as a combination of ICS and LABA for daily maintenance therapy and symptom relief. For children under 5 years old, clinical judgement plays a greater role in diagnosis. The stepwise approach is similar to that for older children, with an 8-week trial of paediatric moderate-dose ICS before adding LTRA. If symptoms persist, referral to a paediatric asthma specialist is recommended.
It should be noted that NICE does not recommend changing treatment for well-controlled asthma patients simply to adhere to the latest guidelines. The definitions of low, moderate, and high-dose ICS have also changed, with different definitions for adults and children. For children, <= 200 micrograms budesonide or equivalent is considered a paediatric low dose, 200-400 micrograms is a moderate dose, and > 400 micrograms is a high dose. Overall, the new NICE guidelines provide a clear and concise approach to managing asthma in children.
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This question is part of the following fields:
- Paediatrics
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Question 9
Incorrect
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Which one of the following is not included in the core Adolescent Health Promotion Program as outlined in the National Service Framework for Children?
Your Answer:
Correct Answer: 8-9 month surveillance review
Explanation:The regular surveillance evaluations that were conducted at 8 months, 2 years, and 3-4 years have been discontinued. Nevertheless, if a child is considered to be in a vulnerable situation, it is recommended to conduct more frequent assessments.
Child Health Surveillance in the UK
Child health surveillance in the UK involves a series of checks and tests to ensure the well-being of children from before birth to pre-school age. During the antenatal period, healthcare professionals ensure that the baby is growing properly and check for any maternal infections that may affect the baby. An ultrasound scan is also performed to detect any fetal abnormalities, and blood tests are done to check for neural tube defects.
After birth, a clinical examination of the newborn is conducted, and a hearing screening test is performed. The mother is given a Personal Child Health Record, which contains important information about the child’s health. Within the first month, a heel-prick test is done to check for hypothyroidism, PKU, metabolic diseases, cystic fibrosis, and medium-chain acyl Co-A dehydrogenase deficiency (MCADD). A midwife visit may also be conducted within the first four weeks.
In the following months, health visitor input is provided, and a GP examination is done at 6-8 weeks. Routine immunisations are also given during this time. Ongoing monitoring of growth, vision, and hearing is conducted, and health professionals provide advice on immunisations, diet, and accident prevention.
In pre-school, a national orthoptist-led programme for pre-school vision screening is set to be introduced. Overall, child health surveillance in the UK aims to ensure that children receive the necessary care and attention to promote their health and well-being.
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This question is part of the following fields:
- Paediatrics
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Question 10
Incorrect
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A 6-week-old girl is brought to the pediatrician by her father with symptoms of vomiting and diarrhea for the past 5 days. She has also developed a new rash that is bothering her and has a runny nose. The father denies any weight loss, fever, or other family members being sick.
Upon further questioning, the father reveals that he has recently introduced formula milk as he is planning to return to work soon and wants the baby to get used to it. The pediatrician suspects that the infant may have an intolerance to cow's milk protein.
What would be the most appropriate alternative feed to try for this baby?Your Answer:
Correct Answer: Extensively hydrolysed formula
Explanation:Formula options for infants with different types of intolerance vary. For infants with cow’s milk protein intolerance, a partially hydrolysed formula is recommended as it contains proteins that are less allergenic. Amino acid-based formula is suitable for infants with severe intolerance, although it may not be as palatable. High protein formula is used for pre-term infants, but recent studies suggest that it may increase the risk of obesity in the long-term. Lactose-free formula is appropriate for infants with lactose intolerance, which is characterized by gastrointestinal symptoms rather than rash and runny nose.
Understanding Cow’s Milk Protein Intolerance/Allergy
Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.
Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.
The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.
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This question is part of the following fields:
- Paediatrics
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Question 11
Incorrect
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As a foundation doctor on the neonatal ward, you are updating a prescription chart for a premature baby born at twenty-seven weeks who is in poor condition. While reviewing the chart, you come across caffeine as one of the medications prescribed. Can you explain the purpose of caffeine in neonatal care?
Your Answer:
Correct Answer: Aiding weaning off a ventilator
Explanation:Newborn babies can benefit from caffeine as it acts as a respiratory stimulant. It is also used to help neonates transition off a ventilator. Sildenafil, known as Viagra, is typically used to treat erectile dysfunction in adults, but it can also be used to treat pulmonary hypertension in neonates. The approach to addressing distress in newborns depends on the underlying cause, which is often related to respiratory or pain issues. Gaviscon and ranitidine are sometimes used to treat gastro-oesophageal reflux, although this is not an approved use. Necrotising enterocolitis is more prevalent in premature babies and can be treated through medical interventions, such as resting the gut, or surgical interventions, such as resection.
Surfactant Deficient Lung Disease in Premature Infants
Surfactant deficient lung disease (SDLD), previously known as hyaline membrane disease, is a condition that affects premature infants. It occurs due to the underproduction of surfactant and the immaturity of the lungs’ structure. The risk of SDLD decreases with gestation, with 50% of infants born at 26-28 weeks and 25% of infants born at 30-31 weeks being affected. Other risk factors include male sex, diabetic mothers, Caesarean section, and being the second born of premature twins.
The clinical features of SDLD are similar to those of respiratory distress in newborns, including tachypnea, intercostal recession, expiratory grunting, and cyanosis. Chest x-rays typically show a ground-glass appearance with an indistinct heart border.
Prevention during pregnancy involves administering maternal corticosteroids to induce fetal lung maturation. Management of SDLD includes oxygen therapy, assisted ventilation, and exogenous surfactant given via an endotracheal tube. With proper management, the prognosis for infants with SDLD is generally good.
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This question is part of the following fields:
- Paediatrics
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Question 12
Incorrect
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You are a foundation year 2 doctor on your GP placement. You see 8-year-old Lily whose mother has brought her to see you as she feels Lily is snoring very loudly and wonders whether this is affecting her quality of sleep. Lily is overweight and has a background of childhood asthma.
What is a frequent cause of snoring in childhood?Your Answer:
Correct Answer: Obesity
Explanation:Snoring in Children: Possible Causes
Snoring in children can be caused by various factors. One of the common causes is obesity, which can lead to the narrowing of the airways and difficulty in breathing during sleep. Another possible cause is nasal problems such as polyps, deviated septum, and hypertrophic nasal turbinates, which can also obstruct the airways and cause snoring. Recurrent tonsillitis can also contribute to snoring, as the inflamed tonsils can block the air passages.
In some cases, snoring in children may be associated with certain medical conditions such as Down’s syndrome and hypothyroidism. These conditions can affect the structure and function of the respiratory system, leading to snoring and other breathing difficulties.
It is important to identify the underlying cause of snoring in children and seek appropriate treatment to prevent potential health complications. Parents should consult a healthcare professional if their child snores regularly or experiences other symptoms such as daytime sleepiness, difficulty concentrating, or behavioral problems.
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This question is part of the following fields:
- Paediatrics
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Question 13
Incorrect
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What is the likelihood of a 44-year-old mother having a child with Down's syndrome?
Your Answer:
Correct Answer: 1 in 50
Explanation:The risk of Down’s syndrome is 1 in 1,000 at the age of 30, and this risk decreases by a factor of 3 for every 5 years.
Down’s Syndrome: Epidemiology and Genetics
Down’s syndrome is a genetic disorder that occurs when there is an extra copy of chromosome 21. The risk of having a child with Down’s syndrome increases with maternal age. At 20 years old, the risk is 1 in 1,500, but by 45 years old, the risk increases to 1 in 50 or greater. To remember this, one can start with a risk of 1/1,000 at 30 years old and divide the denominator by 3 for every extra 5 years of age.
There are three main types of Down’s syndrome: nondisjunction, Robertsonian translocation, and mosaicism. Nondisjunction accounts for 94% of cases and occurs when the chromosomes fail to separate properly during cell division. The risk of recurrence is 1 in 100 if the mother is under 35 years old. Robertsonian translocation occurs when part of chromosome 21 attaches to another chromosome, usually chromosome 14. This accounts for 5% of cases and has a higher risk of recurrence if the mother or father is a carrier. Mosaicism accounts for 1% of cases and occurs when there are two genetically different populations of cells in the body.
In summary, Down’s syndrome is a genetic disorder that is more common with increasing maternal age. The risk of recurrence depends on the type of Down’s syndrome and whether the parents are carriers. It is important for individuals to understand the genetics and epidemiology of Down’s syndrome to make informed decisions about family planning.
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This question is part of the following fields:
- Paediatrics
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Question 14
Incorrect
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Fragile X is commonly associated with all of the following symptoms except?
Your Answer:
Correct Answer: Small, firm testes
Explanation:Fragile X Syndrome: A Genetic Disorder
Fragile X syndrome is a genetic disorder caused by a trinucleotide repeat. It affects both males and females, but males are more severely affected. Common features in males include learning difficulties, large low set ears, long thin face, high arched palate, macroorchidism, hypotonia, and a higher likelihood of autism. Mitral valve prolapse is also a common feature. Females, who have one fragile chromosome and one normal X chromosome, may have a range of symptoms from normal to mild.
Diagnosis of Fragile X syndrome can be made antenatally by chorionic villus sampling or amniocentesis. The number of CGG repeats can be analyzed using restriction endonuclease digestion and Southern blot analysis. Early diagnosis and intervention can help manage the symptoms of Fragile X syndrome and improve the quality of life for those affected.
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This question is part of the following fields:
- Paediatrics
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Question 15
Incorrect
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A mother brings her 10-month-old son to the Emergency Department (ED). She is very concerned as she reports that he has been unsettled and crying all night, which is unusual for him. The patient was born at 40+1 weeks by normal vaginal delivery; the mother developed gestational diabetes, but there were no other complications during the pregnancy or birth. The child has had all his vaccinations. The mother reports that he has been crying non-stop since the early hours of this morning. She tried to feed him, but he vomited twice, minutes after the feed.
On examination, he is crying, warm and well perfused, with a pulse of 150 beats per minute (bpm). His abdomen appears distended with tinkling bowel sounds. The mother mentions that she noticed a dark red jelly-like substance in his nappy when she changed it earlier.
What is the most likely diagnosis?Your Answer:
Correct Answer: Intussusception
Explanation:Common Causes of Bowel Obstruction in Children
Bowel obstruction in children can be caused by various conditions, each with its own distinct features. Here are some of the most common causes:
1. Intussusception: This occurs when one segment of the bowel telescopes into another, leading to obstruction. It is most common in children aged 6-9 months and may be idiopathic or caused by a viral infection. Symptoms include bilious vomiting, distended abdomen, tinkling bowel sounds, and redcurrant jelly stools.
2. Congenital hypertrophic pyloric stenosis: This is a gastric outlet obstruction that typically presents at around 3 weeks of life. It is caused by hypertrophy of the pylorus and leads to non-bilious projectile vomiting and a palpable olive mass in the epigastric region. Treatment involves surgical excision.
3. Duodenal atresia: This is a type of bowel obstruction that only occurs in neonates. It results from failure of recanalization of the small bowel in early fetal life and presents with bilious vomiting, proximal stomach distension, and a double-bubble sign on X-ray. It is associated with Down’s syndrome.
4. Ileus: This is a condition in which the bowel becomes aperistaltic, leading to obstruction. It is common after abdominal surgery, electrolyte disturbances, or infection.
5. Meconium obstruction: This is a type of bowel obstruction that only occurs in newborns. It presents with failure to pass meconium, bilious vomiting, and abdominal distension. Diagnosis can be made prenatally or after birth with an abdominal X-ray showing dilated loops of the small intestine and a soap bubble appearance. Treatment involves radiographic contrast enema or surgery if enemas are unsuccessful.
In conclusion, bowel obstruction in children can have various causes, and prompt diagnosis and treatment are essential to prevent complications.
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This question is part of the following fields:
- Paediatrics
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Question 16
Incorrect
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You are evaluating a young patient in primary care who has a significant family history of multiple endocrine neoplasia type 1. Although genetic testing has confirmed an abnormal genetic profile, the patient has not yet presented with any clinical manifestations of the condition. What is the genetic term used to describe conditions where the genotype is abnormal, but the phenotype remains normal?
Your Answer:
Correct Answer: Low penetrance
Explanation:When a condition has low genetic penetrance, it may not show many clinical signs or symptoms, and the patient may appear normal, despite having an abnormal genetic profile. This is because the severity of the phenotype is determined by the penetrance of the genotype. If the condition has high penetrance, the phenotype is more likely to be expressed, resulting in more signs and symptoms.
Autosomal Dominant Diseases: Characteristics and Complicating Factors
Autosomal dominant diseases are genetic disorders that are inherited from one parent who carries the abnormal gene. In these diseases, both homozygotes and heterozygotes manifest the disease, and both males and females can be affected. The disease is passed on to 50% of children, and it normally appears in every generation. The risk remains the same for each successive pregnancy.
However, there are complicating factors that can affect the expression of the disease. Non-penetrance is a phenomenon where an individual carries the abnormal gene but does not show any clinical signs or symptoms of the disease. For example, 40% of individuals with otosclerosis do not show any symptoms despite carrying the abnormal gene. Another complicating factor is spontaneous mutation, where a new mutation occurs in one of the gametes. This can result in the disease appearing in a child even if both parents do not carry the abnormal gene. For instance, 80% of individuals with achondroplasia have unaffected parents.
In summary, autosomal dominant diseases have distinct characteristics such as their inheritance pattern and the fact that affected individuals can pass on the disease. However, complicating factors such as non-penetrance and spontaneous mutation can affect the expression of the disease and make it more difficult to predict its occurrence.
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This question is part of the following fields:
- Paediatrics
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Question 17
Incorrect
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When is the infant blood spot screening test typically performed in the United Kingdom?
Your Answer:
Correct Answer: Between fifth and ninth day of life
Explanation:Neonatal Blood Spot Screening: Identifying Potential Health Risks in Newborns
Neonatal blood spot screening, also known as the Guthrie test or heel-prick test, is a routine procedure performed on newborns between 5-9 days of life. The test involves collecting a small sample of blood from the baby’s heel and analyzing it for potential health risks. Currently, there are nine conditions that are screened for, including congenital hypothyroidism, cystic fibrosis, sickle cell disease, phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), and homocystinuria (pyridoxine unresponsive) (HCU).
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This question is part of the following fields:
- Paediatrics
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Question 18
Incorrect
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A mother brings her 8-year-old daughter into surgery. She is struggling in school and the mother suspects she may have ADHD. Which of the following features is not indicative of a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD)?
Your Answer:
Correct Answer: Repetitive behaviour
Explanation:In March 2018, NICE released new guidelines for identifying and managing Attention Deficit Hyperactivity Disorder (ADHD). This condition can have a significant impact on a child’s life and can continue into adulthood, making accurate diagnosis and treatment crucial. According to DSM-V, ADHD is characterized by persistent features of inattention and/or hyperactivity/impulsivity, with an element of developmental delay. Children up to the age of 16 must exhibit six of these features, while those aged 17 or over must exhibit five. ADHD has a UK prevalence of 2.4%, with a higher incidence in boys than girls, and there may be a genetic component.
NICE recommends a holistic approach to treating ADHD that is not solely reliant on medication. After presentation, a ten-week observation period should be implemented to determine if symptoms change or resolve. If symptoms persist, referral to secondary care is necessary, typically to a paediatrician with a special interest in behavioural disorders or to the local Child and Adolescent Mental Health Service (CAMHS). A tailored plan of action should be developed, taking into account the patient’s needs and wants, as well as how their condition affects their lives.
Drug therapy should be considered a last resort and is only available to those aged 5 years or older. Parents of children with mild/moderate symptoms can benefit from attending education and training programmes. For those who do not respond or have severe symptoms, pharmacotherapy may be considered. Methylphenidate is the first-line treatment for children and should be given on a six-week trial basis. It is a CNS stimulant that primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side effects include abdominal pain, nausea, and dyspepsia. Weight and height should be monitored every six months in children. If there is an inadequate response, lisdexamfetamine should be considered, followed by dexamfetamine if necessary. In adults, methylphenidate or lisdexamfetamine are the first-line options, with switching between drugs if no benefit is seen after a trial of the other. All of these drugs are potentially cardiotoxic, so a baseline ECG should be performed before starting treatment, and referral to a cardiologist should be made if there is any significant past medical history or family history, or any doubt or ambiguity.
As with most psychiatric conditions, a thorough history and clinical examination are essential, particularly given the overlap of ADHD with many other psychiatric and
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This question is part of the following fields:
- Paediatrics
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Question 19
Incorrect
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As a junior doctor on the postnatal ward, you perform a newborn examination on a twelve-hour-old baby delivered vaginally. During the examination, you observe a scalp swelling that has poorly defined margins and crosses suture lines. The swelling is soft and pitted on pressure. The mother reports that the swelling has been present since birth. What is the probable diagnosis?
Your Answer:
Correct Answer: Caput succedaneum
Explanation:Scalp edema known as caput seccedaneum can be identified by its ability to extend beyond the suture lines during examination.
Understanding Caput Succedaneum
Caput succedaneum is a condition that refers to the swelling of the scalp at the top of the head, usually at the vertex. This swelling is caused by the mechanical trauma that occurs during delivery, particularly in prolonged deliveries or those that involve the use of vacuum delivery. The condition is characterized by soft, puffy swelling due to localized edema that crosses suture lines.
Compared to cephalohaematoma, which is a collection of blood under the scalp, caput succedaneum is caused by edema. While cephalohaematoma is limited to a specific area and does not cross suture lines, caput succedaneum can affect a larger area and cross suture lines. Fortunately, no treatment is needed for caput succedaneum, as the swelling usually resolves on its own within a few days.
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This question is part of the following fields:
- Paediatrics
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Question 20
Incorrect
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A 10-year-old boy presents to the paediatric clinic with his mother. She reports that her son has been experiencing pain in his left hip and groin, accompanied by a limp over the past week. There is no history of any injury. The patient's medical history includes eczema, and he completed a course of antibiotics for tonsillitis 4 weeks ago.
During the examination, there is palpable tenderness in the left groin, hip, and knee. The patient experiences extreme pain, leading to a loss of internal rotation of left hip flexion. He is in the 90th percentile of weight for his age.
What is the most probable diagnosis?Your Answer:
Correct Answer: Slipped upper femoral epiphysis
Explanation:A possible diagnosis for an obese boy experiencing pain in the groin, thigh, and knee could be slipped upper femoral epiphysis (SUFE). This condition is rare and typically affects boys between the ages of 10-15 who are overweight. It causes the femoral head epiphysis to displace posteroinferiorly, resulting in pain in the hip, groin, and medial thigh, as well as limited internal rotation of the leg when flexed.
Juvenile idiopathic arthritis (JIA) is an incorrect diagnosis in this case, as it is characterized by joint inflammation lasting at least six weeks in children under 16 years old. The patient’s relatively short history of hip pain and being overweight make SUFE a more likely diagnosis.
Legg-CalvĂ©-Perthe’s disease is also an incorrect diagnosis, as it involves necrosis of the femoral head and is typically seen in young boys aged 4-8 years. The patient’s painful hip movements and age make SUFE a more probable diagnosis.
Septic arthritis is another possible differential diagnosis, but it would be more likely if the patient presented with a fever and symptoms of systemic upset.
Slipped Capital Femoral Epiphysis: A Rare Hip Condition in Children
Slipped capital femoral epiphysis, also known as slipped upper femoral epiphysis, is a rare hip condition that primarily affects children between the ages of 10 and 15. It is more commonly seen in obese boys. This condition is characterized by the displacement of the femoral head epiphysis postero-inferiorly, which may present acutely following trauma or with chronic, persistent symptoms.
The most common symptoms of slipped capital femoral epiphysis include hip, groin, medial thigh, or knee pain and loss of internal rotation of the leg in flexion. In some cases, a bilateral slip may occur. Diagnostic imaging, such as AP and lateral (typically frog-leg) views, can confirm the diagnosis.
The management of slipped capital femoral epiphysis typically involves internal fixation, which involves placing a single cannulated screw in the center of the epiphysis. However, if left untreated, this condition can lead to complications such as osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.
In summary, slipped capital femoral epiphysis is a rare hip condition that primarily affects children, especially obese boys. It is characterized by the displacement of the femoral head epiphysis postero-inferiorly and can present with various symptoms. Early diagnosis and management are crucial to prevent complications.
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This question is part of the following fields:
- Paediatrics
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Question 21
Incorrect
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A 3-day-old infant is presented to the Emergency Department due to increased irritability, poor feeding, and decreased muscle tone as observed by the mother in the last 24 hours. Meningitis is confirmed through lumbar puncture. What is the probable causative agent in this scenario?
Your Answer:
Correct Answer: Group B streptococcus
Explanation:Meningitis poses a higher risk to neonates, particularly those with low birth weight, prematurity, traumatic delivery, fetal hypoxia, and maternal peripartum infection. The initial symptoms are usually vague and may include elevated body temperature, respiratory distress, apnea, episodes of bradycardia, low blood pressure, difficulty feeding, irritability, and decreased activity.
Organisms causing meningitis in children
Meningitis is a serious condition that can affect children of all ages. The organisms that cause meningitis vary depending on the age of the child. In neonates up to 3 months old, Group B Streptococcus is the most common cause, which is usually acquired from the mother during birth. E. coli and other Gram-negative organisms, as well as Listeria monocytogenes, can also cause meningitis in this age group.
From 1 month to 6 years old, Neisseria meningitidis (meningococcus), Streptococcus pneumoniae (pneumococcus), and Haemophilus influenzae are the most common organisms that cause meningitis. In children over 6 years old, Neisseria meningitidis and Streptococcus pneumoniae are the most common causes.
It is important for parents to be aware of the signs and symptoms of meningitis, such as fever, headache, stiff neck, and sensitivity to light. If a child is showing these symptoms, they should be taken to a doctor immediately for evaluation and treatment. Early diagnosis and treatment can help prevent serious complications and improve outcomes.
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This question is part of the following fields:
- Paediatrics
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Question 22
Incorrect
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A 3-day old baby boy was delivered vaginally at full term after two cycles of In vitro fertilization (IVF). All antenatal scans were normal. Initially, he was feeding well, but over the past 24 hours, he has been feeding poorly, and his tummy has become larger. He has not had a bowel movement yet, and his mother has noticed multiple green/yellow vomits in the last few hours. There is no projectile vomiting. What is the probable diagnosis?
Your Answer:
Correct Answer: Meconium ileus
Explanation:The correct answer is meconium ileus, as the baby is showing signs of abdominal distension and bilious vomiting within the first 24-48 hours of life, and has not passed any meconium. While meconium ileus is more common in children with cystic fibrosis, the baby is too young to have been diagnosed with this condition yet, as the heel prick test is normally done at day 5.
Duodenal atresia is less likely, as it typically presents in the first few hours of life and is often detected on antenatal scans, which were normal in this case.
Necrotizing enterocolitis is unlikely, as it typically affects preterm babies at a few weeks of life, whereas this baby was born at term and is only 2 days old.
Posseting, which is the act of bringing up small quantities of milk without pain or discomfort, is not associated with any pathology. However, in this scenario, the baby is vomiting green/yellow fluid, which is not typical of posseting. Therefore, posseting is an incorrect answer.
Causes and Treatments for Bilious Vomiting in Neonates
Bilious vomiting in neonates can be caused by various disorders, including duodenal atresia, malrotation with volvulus, jejunal/ileal atresia, meconium ileus, and necrotising enterocolitis. Duodenal atresia occurs in 1 in 5000 births and is more common in babies with Down syndrome. It typically presents a few hours after birth and can be diagnosed through an abdominal X-ray that shows a double bubble sign. Treatment involves duodenoduodenostomy. Malrotation with volvulus is usually caused by incomplete rotation during embryogenesis and presents between 3-7 days after birth. An upper GI contrast study or ultrasound can confirm the diagnosis, and treatment involves Ladd’s procedure. Jejunal/ileal atresia is caused by vascular insufficiency in utero and occurs in 1 in 3000 births. It presents within 24 hours of birth and can be diagnosed through an abdominal X-ray that shows air-fluid levels. Treatment involves laparotomy with primary resection and anastomosis. Meconium ileus occurs in 15-20% of babies with cystic fibrosis and presents in the first 24-48 hours of life with abdominal distension and bilious vomiting. Diagnosis involves an abdominal X-ray that shows air-fluid levels, and a sweat test can confirm cystic fibrosis. Treatment involves surgical decompression, and segmental resection may be necessary for serosal damage. Necrotising enterocolitis occurs in up to 2.4 per 1000 births, with increased risks in prematurity and inter-current illness. It typically presents in the second week of life and can be diagnosed through an abdominal X-ray that shows dilated bowel loops, pneumatosis, and portal venous air. Treatment involves conservative and supportive measures for non-perforated cases, while laparotomy and resection are necessary for perforated cases or ongoing clinical deterioration.
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This question is part of the following fields:
- Paediatrics
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Question 23
Incorrect
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What is the most frequent cause of nephrotic syndrome in pediatric patients?
Your Answer:
Correct Answer: Minimal change disease
Explanation:Understanding Nephrotic Syndrome in Children
Nephrotic syndrome is a medical condition that is characterized by three main symptoms: proteinuria, hypoalbuminaemia, and oedema. This condition is most commonly seen in children between the ages of 2 and 5 years old. In fact, around 80% of cases in children are caused by a condition called minimal change glomerulonephritis. Fortunately, this condition has a good prognosis, with approximately 90% of cases responding well to high-dose oral steroids.
Aside from the main symptoms, children with nephrotic syndrome may also experience hyperlipidaemia, a hypercoagulable state, and a higher risk of infection. These additional features are caused by the loss of antithrombin III and immunoglobulins in the body.
Overall, understanding nephrotic syndrome in children is important for parents and healthcare professionals alike. With proper treatment and management, most children with this condition can recover and lead healthy lives.
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This question is part of the following fields:
- Paediatrics
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Question 24
Incorrect
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A concerned father brings his 20-month-old daughter to the pediatrician's office. He is worried that she has not yet started combining two words and is only able to say single words. The father reports no other developmental concerns and there is no significant family history.
What would be the first step in managing this situation?Your Answer:
Correct Answer: Reassure her that this is part of normal development
Explanation:By the age of 2, children should have the ability to combine two words, indicating normal development. Therefore, there is no need to seek consultation with a paediatric specialist or schedule a follow-up appointment in the near future.
Developmental milestones for speech and hearing are important indicators of a child’s growth and development. These milestones can help parents and caregivers track a child’s progress and identify any potential issues early on. At three months, a baby should be able to quieten to their parents’ voice and turn towards sound. They may also start to squeal. By six months, they should be able to produce double syllables like adah and erleh. At nine months, they may say mama and dada and understand the word no. By 12 months, they should know and respond to their own name and understand simple commands like give it to mummy.
Between 12 and 15 months, a child may know about 2-6 words and understand more complex commands. By two years old, they should be able to combine two words and point to parts of their body. Their vocabulary should be around 200 words by 2 1/2 years old. At three years old, they should be able to talk in short sentences and ask what and who questions. They may also be able to identify colors and count to 10. By four years old, they may start asking why, when, and how questions. These milestones are important to keep in mind as a child grows and develops their speech and hearing abilities.
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This question is part of the following fields:
- Paediatrics
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Question 25
Incorrect
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A 32-year-old woman at 28 weeks gestation reports decreased fetal movements. Upon ultrasound, it is discovered that the fetus is hydropic. Her 5-year-old child had a fever and redness on the cheeks recently. What is the probable infectious agent responsible for this?
Your Answer:
Correct Answer: Parvovirus B19
Explanation:The symptoms exhibited by the child indicate erythema infectiosum, which is caused by an infection with parvovirus B19. Most pregnant women have immunity to this virus and it typically does not pose a risk. However, in rare cases, infection during the first trimester has been associated with hydrops fetalis, which can lead to miscarriage.
Parvovirus B19: A Virus with Various Clinical Presentations
Parvovirus B19 is a DNA virus that can cause different clinical presentations. One of the most common is erythema infectiosum, also known as fifth disease or slapped-cheek syndrome. This illness may manifest as a mild feverish condition or a noticeable rash that appears after a few days. The rash is characterized by rose-red cheeks, which is why it is called slapped-cheek syndrome. It may spread to the rest of the body but rarely involves the palms and soles. The rash usually peaks after a week and then fades, but for some months afterwards, a warm bath, sunlight, heat, or fever may trigger a recurrence of the bright red cheeks and rash. Most children recover without specific treatment, and school exclusion is unnecessary as the child is not infectious once the rash emerges. However, in adults, the virus may cause acute arthritis.
Aside from erythema infectiosum, parvovirus B19 can also present as asymptomatic, pancytopenia in immunosuppressed patients, aplastic crises in sickle-cell disease, and hydrops fetalis. The virus suppresses erythropoiesis for about a week, so aplastic anemia is rare unless there is a chronic hemolytic anemia. In pregnant women, the virus can cross the placenta and cause severe anemia due to viral suppression of fetal erythropoiesis, which can lead to heart failure secondary to severe anemia and the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This condition is treated with intrauterine blood transfusions.
It is important to note that the virus can affect an unborn baby in the first 20 weeks of pregnancy. If a woman is exposed early in pregnancy (before 20 weeks), she should seek prompt advice from her antenatal care provider as maternal IgM and IgG will need to be checked. The virus is spread by the respiratory route, and a person is infectious 3 to 5 days before the appearance of the rash. Children are no longer infectious once the rash appears, and there is no specific treatment. Therefore, the child need not be excluded from school as they are no longer infectious by the time the rash occurs.
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This question is part of the following fields:
- Paediatrics
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Question 26
Incorrect
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A 6-year-old girl is brought to her General Practitioner by her mother. She reports that her daughter has been complaining of abdominal pain and has had loose stools for the past three weeks. Her weight was previously on the 75th centile but has now dropped to the 50th centile. She appears fatigued, pale and has a bloated abdomen.
Which of the following is the most appropriate initial investigation?
Your Answer:
Correct Answer: Blood tests for immunoglobulin A (IgA) tissue transglutaminase antibody (tTG) and total IgA
Explanation:Diagnostic Tests for Coeliac Disease
Coeliac disease is a condition that affects the small intestine and is caused by an intolerance to gluten. There are several diagnostic tests that can be performed to confirm a diagnosis of coeliac disease.
Initial Blood Tests
The initial blood tests for coeliac disease are immunoglobulin A (IgA) tissue transglutaminase antibody (tTG) and total IgA. Total IgA is tested because IgA deficiency is associated with coeliac disease and can cause a false-negative tTG-IgA. It is important for patients to be eating a diet containing gluten when they have the blood test to avoid a false-negative result.Endoscopy and Duodenal Biopsy
An endoscopy with a duodenal biopsy may be required to confirm the diagnosis in secondary care. However, guidelines state that children may be diagnosed without a biopsy if they have tTG-IgA levels over ten times the upper limit of normal and positive endomysial antibodies (EMA-IgA) in a second blood test.HLA-DQ2 and HLA-DQ8 Blood Tests
HLA-DQ2 and HLA-DQ8 are associated with coeliac disease. This blood test may be performed in secondary care but is not an initial investigation.C13 Urea Breath Test
The C13 urea breath test is used in the diagnosis of Helicobacter pylori and has no role in the diagnosis of coeliac disease.In conclusion, a combination of blood tests and endoscopy with a duodenal biopsy may be required to confirm a diagnosis of coeliac disease. It is important for patients to continue eating a gluten-containing diet before undergoing diagnostic tests.
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This question is part of the following fields:
- Paediatrics
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Question 27
Incorrect
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A 9-year-old boy is presented to the GP by his mother due to the development of a limp. The mother noticed that his left hip was sore and stiff about a month ago. The pain has gradually worsened, making it difficult for the boy to walk and causing significant discomfort. The boy has a normal developmental history and is otherwise healthy. What is the probable underlying cause of his symptoms?
Your Answer:
Correct Answer: Avascular necrosis
Explanation:Perthes’ disease is characterized by a lack of blood supply to the femoral head, leading to its necrosis and resulting in symptoms such as hip pain, stiffness, and limping. These symptoms are consistent with the presentation of a young boy experiencing progressive hip pain and reduced range of motion. The age of onset for Perthes’ disease typically falls within the range of 6-8 years old, further supporting this diagnosis.
While an epiphyseal plate fracture can also cause pain and limping, it is typically the result of a traumatic injury, which is not the case in this scenario. Slipped upper femoral epiphysis (SUFE) is another potential cause of hip pain and limping, but it typically affects older children and progresses more slowly over several months. Septic arthritis, on the other hand, is a medical emergency characterized by acute joint pain, swelling, and systemic symptoms, which are not present in this case.
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.
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This question is part of the following fields:
- Paediatrics
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Question 28
Incorrect
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A 2-year-old child has been referred by the pediatrician to the clinic as they are concerned about the child's appearance. Upon examination, you observe that the child has upslanting palpebral fissures, prominent epicanthic folds, low-set ears, and a flat face. You proceed to conduct a neurological assessment.
What are the expected findings?Your Answer:
Correct Answer: Hypotonia
Explanation:Hypotonia in neonates can be caused by Down’s syndrome, but it is not the only cause. Down’s syndrome does not typically present with hyperreflexia or hypertonia, and it is not associated with spina bifida. While hyporeflexia may occur in some cases of Down’s syndrome, it is not the most common neurological presentation.
Understanding Hypotonia: Causes and Symptoms
Hypotonia, also known as floppiness, is a condition that can be caused by central nervous system disorders or nerve and muscle problems. It is characterized by a decrease in muscle tone, resulting in a lack of resistance to passive movement. In some cases, an acutely ill child may exhibit hypotonia during examination, while in others, it may be associated with encephalopathy in the newborn period, which is most likely caused by hypoxic ischaemic encephalopathy.
Central causes of hypotonia include Down’s syndrome, Prader-Willi syndrome, hypothyroidism, and cerebral palsy, which may precede the development of spasticity. On the other hand, neurological and muscular problems such as spinal muscular atrophy, spina bifida, Guillain-Barre syndrome, myasthenia gravis, muscular dystrophy, and myotonic dystrophy can also cause hypotonia.
It is important to note that hypotonia can be a symptom of an underlying condition and should be evaluated by a healthcare professional. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected.
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This question is part of the following fields:
- Paediatrics
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Question 29
Incorrect
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Which one of the following drugs is safe to use while breastfeeding?
Your Answer:
Correct Answer: Ceftriaxone
Explanation:The use of cephalosporins during breastfeeding is deemed to be safe.
Breastfeeding has some contraindications that are important to know, especially when it comes to drugs. Antibiotics like penicillins, cephalosporins, and trimethoprim are safe for breastfeeding mothers, as are endocrine drugs like glucocorticoids (in low doses) and levothyroxine. Epilepsy drugs like sodium valproate and carbamazepine, asthma drugs like salbutamol and theophyllines, and hypertension drugs like beta-blockers and hydralazine are also safe. Anticoagulants like warfarin and heparin, as well as digoxin, are also safe. However, some drugs should be avoided, such as antibiotics like ciprofloxacin, tetracycline, chloramphenicol, and sulphonamides, psychiatric drugs like lithium and benzodiazepines, aspirin, carbimazole, methotrexate, sulfonylureas, cytotoxic drugs, and amiodarone. Other contraindications include galactosaemia and viral infections, although the latter is controversial in the developing world due to the increased risk of infant mortality and morbidity associated with bottle feeding.
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This question is part of the following fields:
- Paediatrics
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Question 30
Incorrect
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A mother brings in her 3-day-old female baby to the pediatrician's office. She noticed a small cyst on the roof of the baby's mouth. Upon examination, a small white cystic vesicle measuring approximately 2 mm in diameter is found on the hard palate near the midline. What is the probable diagnosis?
Your Answer:
Correct Answer: Epstein's pearl
Explanation:Epstein’s pearl, a type of congenital cyst found in the mouth, typically does not require any treatment. These cysts are commonly found on the hard palate, but can also be mistaken for a tooth eruption when located on the gums. They usually resolve on their own within a few weeks. Neonatal teeth, on the other hand, are rare and not typically found on the hard palate. Bohn’s nodules are mucous gland cysts that are usually located on the buccal or lingual aspects of the alveolar ridges, and rarely on the palate. A congenital ranula is a papule or nodule that is firm and translucent, and is typically found on the anterior floor of the mouth, lateral to the lingual frenulum.
Understanding Epstein’s Pearl
Epstein’s pearl is a type of cyst that is present in the mouth from birth. It is commonly found on the hard palate, but can also be seen on the gums, which may be mistaken for a tooth eruption. The good news is that no treatment is usually required as these cysts tend to disappear on their own within a few weeks.
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This question is part of the following fields:
- Paediatrics
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