Hirschsprung disease is a bowel disease that is present at birth and is more common in boys than girls, occurring five times more frequently. The typical symptoms include vomiting of bile, swelling of the abdomen, difficulty passing stool, and failure to pass meconium within the first two days of life. However, in some cases, the disease may not become apparent until later in childhood or adolescence. A colon biopsy is used to diagnose the condition, which reveals a segment of bowel that lacks nerve cells.

Understanding Hirschsprung’s Disease

Hirschsprung’s disease is a rare condition that affects 1 in 5,000 births. It is caused by a developmental failure of the parasympathetic Auerbach and Meissner plexuses, resulting in an aganglionic segment of bowel. This leads to uncoordinated peristalsis and functional obstruction, which can present as constipation and abdominal distension in older children or failure to pass meconium in the neonatal period.

Hirschsprung’s disease is three times more common in males and is associated with Down’s syndrome. Diagnosis is made through a rectal biopsy, which is considered the gold standard. Treatment involves initial rectal washouts or bowel irrigation, followed by surgery to remove the affected segment of the colon.

In summary, Hirschsprung’s disease is a rare condition that can cause significant gastrointestinal symptoms. It is important to consider this condition as a differential diagnosis in childhood constipation, especially in male patients or those with Down’s syndrome. Early diagnosis and treatment can improve outcomes and prevent complications.

The otoacoustic emission test is commonly used for screening hearing problems in newborns. In the UK, it is a routine test and if a newborn fails, they are referred for impedance audiometry testing. However, there is no 6-month speech and language assessment as babies are not yet talking at this stage. Impedance audiometry testing is not routine and is only done if a newborn fails the otoacoustic emission test. It would not be appropriate to ask if the patient failed this test before determining if they had it or not. Pure tone audiometry is an adult hearing test and is only done when necessary. Weber’s and Rinne’s tests are screening tools used by clinicians to assess hearing loss in adults, but they may not be suitable for children who may not comply with the test.

Hearing Tests for Children

Hearing tests are important for children to ensure that they are developing normally. There are several tests that may be performed on children of different ages. For newborns, an otoacoustic emission test is typically done as part of the Newborn Hearing Screening Programme. This test involves playing a computer-generated click through a small earpiece and checking for the presence of a soft echo, which indicates a healthy cochlea. If the results of this test are abnormal, an Auditory Brainstem Response test may be done.

For infants between 6-9 months, a Distraction test may be performed by a health visitor with the help of two trained staff members. For children between 18 months to 2.5 years, a Recognition of familiar objects test may be used, which involves using familiar objects like a teddy or cup and asking the child simple questions like where is the teddy? For children over 2.5 years, Performance testing and Speech discrimination tests may be used, such as the Kendall Toy test or McCormick Toy Test. Pure tone audiometry is typically done at school entry in most areas of the UK for children over 3 years old.

In addition to these tests, there is also a questionnaire for parents in the Personal Child Health Records called Can your baby hear you? It is important for parents to be aware of these tests and to have their child’s hearing checked regularly to ensure proper development.

Immediate admission would be necessary for a heart rate of 200bpm. A heart rate of 160 bpm would be worrisome and hospital evaluation should be contemplated, but the urgency would vary based on the patient’s clinical state.

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.

When infants have whooping cough, they may not have the typical whoop sound due to their inability to take a deep breath after coughing. Instead, they may experience apnoeas and cyanosis. Based on the symptoms of coryza followed by severe coughing fits, it is likely that the cause of this child’s condition is Bordetella pertussis. Klebsiella pneumoniae is an unlikely cause as it typically affects patients in healthcare settings. Staphylococcus aureus commonly causes skin infections and pneumonia from this bacteria is more common after surgery. While Streptococcus pneumoniae can cause pneumococcal disease, which is a possibility in this case, it typically presents with sudden onset fever, malaise, and a cough with purulent or bloody sputum.

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

Kawasaki disease requires the use of high-dose aspirin, despite it being generally not recommended for children due to the risk of Reye’s syndrome. This is because the child presents with a persistent fever lasting more than 5 days, along with other characteristic symptoms such as injected conjunctiva, swollen mucosal linings around the mouth, and red, swollen hands and feet. Intravenous immunoglobulin is also recommended for treatment.
Benzylpenicillin (penicillin G) is not indicated for this child as they do not exhibit symptoms of meningitis or endocarditis. Ibuprofen is also not appropriate for Kawasaki disease, as it is typically used for other conditions such as juvenile idiopathic arthritis and soft-tissue injuries. Low-dose aspirin may be given to low-risk patients who present more than 10 days after symptom onset and have normal ESR/CRP results and initial echocardiogram results.

Understanding Kawasaki Disease

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

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

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

Both epilepsy and reflex anoxic seizures can cause collapse, jerking, stiffness, and cyanosis. However, reflex anoxic seizures have a faster recovery time compared to epileptic seizures, which usually have a longer recovery period.

Reflex Anoxic Seizures: A Brief Overview

Reflex anoxic seizures are a type of syncope or fainting episode that occurs in response to pain or emotional stimuli. This condition is believed to be caused by a temporary pause in the heart’s electrical activity due to overstimulation of the vagus nerve in children with sensitive reflexes. Reflex anoxic seizures are most commonly seen in young children between the ages of 6 months and 3 years.

During a reflex anoxic seizure, the child may suddenly become very pale and fall to the ground. Secondary anoxic seizures may also occur, which are brief episodes of muscle twitching or jerking. However, the child typically recovers quickly and without any long-term effects.

There is no specific treatment for reflex anoxic seizures, but it is important to identify and avoid triggers that may cause these episodes. The prognosis for children with reflex anoxic seizures is excellent, and most children outgrow this condition as they get older. By understanding the symptoms and triggers of reflex anoxic seizures, parents and caregivers can help manage this condition and ensure the safety and well-being of their child.

If a patient presents with whooping cough within 21 days of the onset of cough, they should be prescribed either azithromycin or clarithromycin. In this case, the correct option is to prescribe oral clarithromycin. Hospital admission for IV antibiotics is not necessary as the patient is stable. If the patient had presented after three weeks, advice would be the appropriate course of action. Oral co-amoxiclav and oral doxycycline are not recommended treatments for whooping cough.

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

Managing Acute Epiglottitis: Prioritizing Airway Security

Acute epiglottitis is a medical emergency that requires immediate attention to secure the patient’s airway. While medical therapies and investigations are important, the priority should be given to securing the airway via endo-/nasotracheal intubation or tracheostomy guided by a senior anaesthetist and ENT surgeon. Oral instrumentation is contraindicated until the airway has been secured. Lateral neck X-ray may be useful in diagnosing less acute presentations, but in this case, the child requires intravenous broad-spectrum antibiotics and admission to an Intensive Therapy Unit/High-dependency Unit bed in the hospital. Intubating a child with acute epiglottitis can be challenging and should only be undertaken by an experienced anaesthetist.

If a child is experiencing hip pain or a limp and also has a fever, it is important to refer them for same-day assessment, even if the suspected diagnosis is transient synovitis.

Based on the child’s age, overall health (aside from the fever), recent cold, and examination findings (limited movement but a normal-looking joint without significant restriction), transient synovitis is the most likely cause of the hip pain. While this condition can be managed with pain relief and typically resolves on its own, any child with hip pain and a fever should be assessed immediately to rule out septic arthritis.

In secondary care, the Kocher criteria are used to determine the likelihood of a septic joint based on a combination of signs and symptoms (fever and non-weight bearing) and blood tests (ESR and white cell count).

A routine hip ultrasound is not necessary in this case, as it is typically used to screen for developmental dysplasia of the hip in newborns or those with risk factors. Bilateral hip x-rays are also not required, as they are used to investigate suspected Perthes’ disease, which presents differently and is more common in slightly older children.

Conservative management is appropriate for transient synovitis, but it is important to have a low threshold for referral to secondary care given the potential for septic arthritis. A routine referral to paediatric orthopaedics is not necessary for either transient synovitis or septic arthritis.

Transient synovitis, also known as irritable hip, is a common cause of hip pain in children aged 3-8 years. It typically occurs following a recent viral infection and presents with symptoms such as groin or hip pain, limping or refusal to weight bear, and occasionally a low-grade fever. However, a high fever may indicate other serious conditions such as septic arthritis, which requires urgent specialist assessment. To exclude such diagnoses, NICE Clinical Knowledge Summaries recommend monitoring children in primary care with a presumptive diagnosis of transient synovitis, provided they are aged 3-9 years, well, afebrile, mobile but limping, and have had symptoms for less than 72 hours. Treatment for transient synovitis involves rest and analgesia, as the condition is self-limiting.

Capacity to make decisions is dependent on both time and the individual’s ability to make decisions. If the patient did not have the capacity to make a decision in the past, but currently has the capacity to do so, their consent is the only one required. It is advisable to involve parents in the decision-making process for pediatric patients, especially in cases involving contraception. However, if the patient is not convinced, the treatment can still proceed as long as they have the capacity to make the decision. If there are doubts, it is good practice to involve another healthcare team member, but if the patient is deemed capable of making the decision, their capacitous consent is sufficient according to the GMC. There is no requirement for a time gap between consultations to allow for decision-making.

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.

When a child presents with right iliac fossa pain, a previous and recent history of a viral upper respiratory tract infection, along with enlarged neck nodes and high temperature, may indicate mesenteric adenitis. This condition is caused by mesenteric lymphadenopathy and can cause abdominal pain. Appendicitis is another possible diagnosis, but it tends to present with a low-grade fever and involuntary muscle spasms in the abdominal wall. A urinary tract infection is unlikely if there are no nitrites or leukocytes on urine dipstick. Meckel’s diverticulitis is a rare complication of Meckel’s diverticulum and is difficult to diagnose without considering appendicitis. Retroperitoneal appendix abscess is another uncommon type of infection that presents with non-specific symptoms such as fever, back pain, and abdominal pain. High temperatures may also be present, but they usually fluctuate in abscesses.

If a baby appears nervous and has low muscle tone, it could indicate neonatal hypoglycemia. It is important to check the baby’s blood glucose levels, especially if the mother has been taking labetalol. Additionally, if the mother has used opiates or illegal drugs during pregnancy, the baby may also exhibit symptoms of neonatal abstinence syndrome.

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.

The otoacoustic emission test is specifically designed to screen newborns for hearing issues. Different hearing tests are available for different age groups, but in the UK, newborns are typically screened using the automated otoacoustic emissions test or the evoked otoacoustic emissions test. If any abnormalities are detected, the automated auditory brainstem response test is used as a follow-up. The other hearing tests mentioned are more appropriate for older children. This information is provided by the NHS in the UK.

Hearing Tests for Children

Hearing tests are important for children to ensure that they are developing normally. There are several tests that may be performed on children of different ages. For newborns, an otoacoustic emission test is typically done as part of the Newborn Hearing Screening Programme. This test involves playing a computer-generated click through a small earpiece and checking for the presence of a soft echo, which indicates a healthy cochlea. If the results of this test are abnormal, an Auditory Brainstem Response test may be done.

For infants between 6-9 months, a Distraction test may be performed by a health visitor with the help of two trained staff members. For children between 18 months to 2.5 years, a Recognition of familiar objects test may be used, which involves using familiar objects like a teddy or cup and asking the child simple questions like where is the teddy? For children over 2.5 years, Performance testing and Speech discrimination tests may be used, such as the Kendall Toy test or McCormick Toy Test. Pure tone audiometry is typically done at school entry in most areas of the UK for children over 3 years old.

In addition to these tests, there is also a questionnaire for parents in the Personal Child Health Records called Can your baby hear you? It is important for parents to be aware of these tests and to have their child’s hearing checked regularly to ensure proper development.

Constipation at this age is most likely caused by dietary factors. Therefore, it is important to offer dietary guidance, such as increasing fiber and fluid consumption. Additionally, advising the individual to increase their activity level may be beneficial. As the constipation is getting worse, a laxative would be helpful. An osmotic laxative is recommended initially, as the stool is expected to be hard. A stimulant laxative may be necessary once the stool has softened.

Understanding and Managing Constipation in Children

Constipation is a common problem in children, with the frequency of bowel movements decreasing as they age. The National Institute for Health and Care Excellence (NICE) has provided guidelines for the diagnosis and management of constipation in children. A diagnosis of constipation is suggested by two or more symptoms, including infrequent bowel movements, hard stools, and associated distress or pain. Most cases of constipation in children are idiopathic, but other causes such as dehydration, low-fiber diet, and medication use should be considered and excluded.

If a diagnosis of constipation is made, NICE recommends assessing for faecal impaction before starting treatment. Treatment for faecal impaction involves using polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) as the first-line treatment, with the addition of a stimulant laxative if necessary. Maintenance therapy involves a similar regime, with adjustments to the starting dose and the addition of other laxatives if necessary.

It is important to note that dietary interventions alone are not recommended as first-line treatment, although ensuring adequate fluid and fiber intake is important. Regular toileting and non-punitive behavioral interventions should also be considered. For infants, extra water, gentle abdominal massage, and bicycling the legs can be helpful for constipation. If these measures are not effective, lactulose can be added.

In summary, constipation in children can be managed effectively with a combination of medication, dietary adjustments, and behavioral interventions. It is important to follow NICE guidelines and consider the individual needs of each child.

Legg-Calvé-Perthes’ Disease: Diagnosis and Imaging

Legg-Calvé-Perthes’ disease is a condition where the femoral head undergoes osteonecrosis, or bone death, without any known cause. The diagnosis of this disease can be established through plain x-rays of the hip, which are highly useful. However, in the early stages, MRI and contrast MRI can provide more detailed information about the extent of necrosis, revascularization, and healing. On the other hand, a nuclear scan can provide less detail and expose the child to radiation. Nevertheless, a technetium 99 bone scan can be helpful in identifying the extent of avascular changes before they become evident on plain radiographs.

In summary, Legg-Calvé-Perthes’ disease is a condition that can be diagnosed through plain x-rays of the hip. However, MRI and contrast MRI can provide more detailed information in the early stages, while a technetium 99 bone scan can help identify the extent of avascular changes before they become evident on plain radiographs. It is important to consider the risks and benefits of each imaging modality when diagnosing and monitoring this disease.

Perthes disease is a condition that primarily affects one hip, with only a minority of patients experiencing it in both hips. It is not associated with obesity, unlike slipped capital femoral epiphysis which is more common in overweight children. The management of Perthes disease typically involves conservative measures such as casting or bracing, although surgery may be necessary for older children or those with significant damage to the hip socket. The use of a Pavlik harness is not appropriate for treating Perthes disease, as it is typically used for developmental dysplasia of the hip.

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.

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.

The baby in this situation displays typical indications of pyloric stenosis. If a young infant experiences projectile vomiting after each feeding, it is important to consider the possibility of pyloric stenosis. The most effective method to visualize the issue is through an ultrasound scan, which can identify the thickening of the circular pylorus muscles. This is also the safest and most straightforward diagnostic test for a young baby. Additionally, a thorough abdominal examination may uncover a detectable lump in the upper left quadrant.

Understanding Pyloric Stenosis

Pyloric stenosis is a condition that usually occurs in infants between the second and fourth weeks of life. However, in rare cases, it may present later, up to four months. This condition is caused by the thickening of the circular muscles of the pylorus. Pyloric stenosis is more common in males, with an incidence of 4 per 1,000 live births. It is also more likely to affect first-borns and infants with a positive family history.

The most common symptom of pyloric stenosis is projectile vomiting, which usually occurs about 30 minutes after a feed. Other symptoms may include constipation, dehydration, and a palpable mass in the upper abdomen. Prolonged vomiting can lead to hypochloraemic, hypokalaemic alkalosis, which can be life-threatening.

Diagnosis of pyloric stenosis is typically made using ultrasound. Management of this condition involves a surgical procedure called Ramstedt pyloromyotomy. This procedure involves making a small incision in the pylorus to relieve the obstruction and allow for normal passage of food. With prompt diagnosis and treatment, infants with pyloric stenosis can make a full recovery.

Inherited Metabolic Disorders: Defects and Their Characteristics

Phenylketonuria (PKU) is caused by a defect in phenylalanine hydroxylase, leading to an excess of phenylalanine and phenylketones in the urine. A musty odour of the skin and hair is a common symptom.

Maple syrup urine disease (MSUD) is characterized by decreased α-ketoacid dehydrogenase, which can cause brain damage and is often fatal in infants.

Cystinuria is caused by a defect in the transporter for cysteine, leading to persistent kidney stones.

Alkaptonuria is caused by a deficiency in homogentisic acid oxidase, which can cause brown or black coloration of urine upon exposure to air.

Albinism is caused by a defect in tyrosinase, resulting in a partial or complete absence of pigment in the skin, hair, and eyes, leading to a characteristic pale appearance.

These inherited metabolic disorders have distinct defects and characteristics that can aid in their diagnosis and management.

Understanding and Managing Constipation in Children

Constipation is a common problem in children, with the frequency of bowel movements decreasing as they age. The National Institute for Health and Care Excellence (NICE) has provided guidelines for the diagnosis and management of constipation in children. A diagnosis of constipation is suggested by two or more symptoms, including infrequent bowel movements, hard stools, and associated distress or pain. Most cases of constipation in children are idiopathic, but other causes such as dehydration, low-fiber diet, and medication use should be considered and excluded.

If a diagnosis of constipation is made, NICE recommends assessing for faecal impaction before starting treatment. Treatment for faecal impaction involves using polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) as the first-line treatment, with the addition of a stimulant laxative if necessary. Maintenance therapy involves a similar regime, with adjustments to the starting dose and the addition of other laxatives if necessary.

It is important to note that dietary interventions alone are not recommended as first-line treatment, although ensuring adequate fluid and fiber intake is important. Regular toileting and non-punitive behavioral interventions should also be considered. For infants, extra water, gentle abdominal massage, and bicycling the legs can be helpful for constipation. If these measures are not effective, lactulose can be added.

In summary, constipation in children can be managed effectively with a combination of medication, dietary adjustments, and behavioral interventions. It is important to follow NICE guidelines and consider the individual needs of each child.

Feeding Difficulty and Physiological Jaundice

Feeding difficulty is a common problem among infants, but it is not associated with physiological jaundice. Physiological jaundice is a benign condition that is short-lived and does not generally cause any symptoms. This means that it is not related to feeding difficulties that infants may experience.

It is important for parents to be aware of the signs of feeding difficulty in their infants, such as difficulty latching, poor weight gain, and excessive crying during feeding. These symptoms may indicate an underlying medical condition that requires prompt attention. On the other hand, physiological jaundice is a normal occurrence in many newborns and typically resolves on its own without any treatment.

In summary, while feeding difficulty is a common problem among infants, it is not associated with physiological jaundice. Parents should be aware of the signs of feeding difficulty and seek medical attention if necessary, but they can rest assured that physiological jaundice is a benign condition that does not generally cause any symptoms.

This child has an infantile haemangioma, a benign lesion caused by abnormal vessel growth in the skin and deeper structures. These lesions usually appear shortly after birth and can grow rapidly in the first 3 months of life, peaking around the fifth month before regressing spontaneously. The haemangioma in this case is located in the posterior neck triangle and is asymptomatic, so medical photography will be taken and the child will be reassessed in 3 months. Treatment is only necessary if the haemangioma is troublesome, symptomatic, or affecting deeper structures. The first-line treatment is oral propranolol, but topical b blockers can be used if necessary. Surgery is reserved for rapidly evolving haemangiomas that are compressing vital structures or affecting essential functions. Topical timolol can also be used with caution if oral b blockers are not tolerated.

The most common presentation of juvenile idiopathic arthritis (JIA) is oligoarticular (or pauciarticular) JIA, which typically affects up to four joints and is mild. The affected joints are usually larger ones like the knee, ankle, or elbow, and common symptoms include pain, stiffness, and fatigue. Other symptoms may include rash, fever, or dry/gritty eyes. Having a family history of autoimmune disease, such as systemic lupus erythematosus, increases the risk of developing JIA.

Ewing sarcoma is a primary bone cancer that usually affects long bones and causes localized pain and swelling. It is unlikely to present symmetrically and typically affects only one side of the body.

Osgood-Schlatter disease is an inflammation of the growth plate at the tibial tubercle, which is caused by traction from the quadriceps. It usually occurs in adolescents who are involved in sports/athletics and can affect both tibias, although it typically presents on only one side. The pain is worse during exercise and is not associated with knee effusions.

Systemic lupus erythematosus (SLE) is a chronic disorder that affects multiple systems and often includes arthritis or arthralgia. However, in this case, the absence of other systemic symptoms or rash suggests that the primary issue is arthritis, despite the family history.

Understanding Pauciarticular Juvenile Idiopathic Arthritis

Pauciarticular Juvenile Idiopathic Arthritis (JIA) is a type of arthritis that affects children under the age of 16 and lasts for more than six weeks. It is characterized by joint pain and swelling, typically in medium-sized joints such as the knees, ankles, and elbows. This type of JIA is called pauciarticular because it affects four or fewer joints. It is the most common type of JIA, accounting for approximately 60% of cases.

In addition to joint pain and swelling, children with pauciarticular JIA may experience a limp. It is also possible for the antinuclear antibody (ANA) test to be positive in cases of JIA, which is associated with anterior uveitis. It is important for parents and caregivers to be aware of the symptoms of pauciarticular JIA and seek medical attention if they suspect their child may be affected. Early diagnosis and treatment can help manage symptoms and prevent long-term joint damage.

West’s syndrome is characterized by infantile spasms, which can be mistaken for colic by families. However, it is crucial to recognize that there is an underlying pathology indicated by abnormal EEG and MRI results, with hypsarrhythmia being a classic feature of West’s syndrome. While seizures in babies may resemble infantile colic or pseudo seizures, the presence of abnormal EEG readings confirms a brain pathology. There is no evidence of infection or fever to suggest febrile convulsions. Partial seizures with sensory auras are often associated with temporal lobe seizures.

Understanding Infantile Spasms

Infantile spasms, also known as West syndrome, is a form of epilepsy that typically occurs in infants between 4 to 8 months old, with a higher incidence in male infants. This condition is often associated with a serious underlying condition and has a poor prognosis. The characteristic feature of infantile spasms is the salaam attacks, which involve the flexion of the head, trunk, and arms followed by the extension of the arms. These attacks last only 1-2 seconds but can be repeated up to 50 times.

Infants with infantile spasms may also experience progressive mental handicap. To diagnose this condition, an EEG is typically performed, which shows hypsarrhythmia in two-thirds of infants. Additionally, a CT scan may be used to identify any diffuse or localized brain disease, which is present in 70% of cases, such as tuberous sclerosis.

Unfortunately, infantile spasms carry a poor prognosis. However, there are treatment options available. Vigabatrin is now considered the first-line therapy, and ACTH is also used.

A collapsing pulse is linked to PDA.

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.

Otitis media is the most frequent complication that arises from measles, which typically presents with an initial prodrome of cough, coryza, and the appearance of white spots on the buccal mucosa known as koplik spots. The rash usually emerges between day 3 and 5, starting behind the ears and spreading down the body.

Measles: A Highly Infectious Viral Disease

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

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

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

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

Causes of Cyanotic Congenital Heart Disease in Newborns

Cyanotic congenital heart disease is a condition that results in low oxygen levels in the blood, leading to a bluish discoloration of the skin. There are several causes of this condition in newborns, including transposition of the great arteries (TGA), tetralogy of Fallot with severe pulmonary stenosis, hypoplastic left heart syndrome, severe ventricular septal defect, and tricuspid atresia with atrial and ventricular septal defect.

Transposition of the great arteries (TGA) is the most common cause of cyanotic congenital heart disease in newborns. In this condition, the aorta and pulmonary trunk are switched, which is incompatible with life without an associated mixing defect such as atrial septal defect, ventricular septal defect, or patent ductus arteriosus.

Tetralogy of Fallot with severe pulmonary stenosis is another cause of cyanotic congenital heart disease in newborns. This condition results in cyanosis early after birth due to a severely stenotic pulmonary outflow, which maximizes the right-to-left shunt through the ventricular septal defect.

Hypoplastic left heart syndrome is a cyanotic congenital heart disease that is usually associated with pulmonary edema. This condition is caused by dysgenesis of the left ventricle, which leads to mixing of arterial and venous blood and subsequent cyanosis.

Severe ventricular septal defect results in left-to-right shunting of blood, which typically does not result in cyanosis until progressive cardiac decompensation occurs. This makes it an unlikely cause of cyanotic congenital heart disease in newborns who present with cyanosis immediately after birth.

Tricuspid atresia with atrial and ventricular septal defects is another cause of cyanotic congenital heart disease in newborns. This condition results in right-to-left blood shunting without pulmonary edema early after birth, but it is less common than other causes of cyanotic congenital heart disease.

A child under the age of 3 who presents with an acute limp requires urgent specialist assessment. This is because septic arthritis is more common than transient synovitis in this age group. A routine paediatric referral is not appropriate as the concern is ruling out septic arthritis, which requires urgent attention. An urgent X-ray or hip ultrasound scan is also not sufficient, as a comprehensive specialist examination is necessary to exclude serious pathology.

Causes of Limping in Children

Limping in children can be caused by various factors, which may differ depending on the child’s age. One possible cause is transient synovitis, which has an acute onset and is often accompanied by viral infections. This condition is more common in boys aged 2-12 years. On the other hand, septic arthritis/osteomyelitis may cause a child to feel unwell and have a high fever. Juvenile idiopathic arthritis may cause a painless limp, while trauma can usually be diagnosed through the child’s history. Development dysplasia of the hip is usually detected in neonates and is six times more common in girls. Perthes disease, which is due to avascular necrosis of the femoral head, is more common in children aged 4-8 years. Finally, slipped upper femoral epiphysis may occur in children aged 10-15 years and is characterized by the displacement of the femoral head epiphysis postero-inferiorly. It is important to identify the cause of a child’s limp in order to provide appropriate treatment and prevent further complications.

The statement is incorrect because if at least one parent is a carrier of sickle cell anemia, there is a probability greater than zero.

Understanding Autosomal Recessive Inheritance

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

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

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

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.