Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae B (HiB) bacteria. It is characterized by a sudden onset of fever, stridor, and drooling due to inflammation of the epiglottis. It is important to keep the affected child calm and seek specialist input from anaesthetics and paediatrics. In the UK, the current vaccination against HiB has made epiglottitis uncommon. Bordetella pertussis, Streptococcus pneumoniae, and Parainfluenza virus are incorrect answers as they do not produce the same presentation as acute epiglottitis.

Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B. It is important to recognize and treat it promptly as it can lead to airway obstruction. Although it was once considered a disease of childhood, it is now more common in adults in the UK due to the immunization program. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine. Symptoms include a rapid onset, high temperature, stridor, drooling of saliva, and a tripod position where the patient leans forward and extends their neck to breathe easier. Diagnosis is made by direct visualization, but x-rays may be done to rule out a foreign body.

Immediate senior involvement is necessary, including those who can provide emergency airway support such as anaesthetics or ENT. Endotracheal intubation may be necessary to protect the airway. It is important not to examine the throat if epiglottitis is suspected due to the risk of acute airway obstruction. The diagnosis is made by direct visualization, but only senior staff who are able to intubate if necessary should perform this. Treatment includes oxygen and intravenous antibiotics.

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 most likely cause of this patient’s dyspnoea at rest, combined with being generally unwell and the time of year, is croup. Croup is commonly caused by the parainfluenza virus. Bordetella pertussis, Parvovirus B19, and Respiratory syncytial virus are unlikely causes as they present with different symptoms and are associated with different conditions.

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.

Bronchiolitis is typically caused by a virus, so antibiotics should not be immediately prescribed. However, if there are signs of secondary bacterial pneumonia or respiratory failure, antibiotics may be considered. It is incorrect to prescribe antibiotics based on a chest X-ray, as this is not a reliable method for determining further treatment. Bronchodilators, like salbutamol inhalers, are not helpful in treating bronchiolitis, especially in children under 1 year old who are unlikely to have viral-induced wheezing.

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 a newborn baby’s hearing test at birth shows an abnormal result, they are offered an auditory brainstem response test as a follow-up. This test involves placing electrodes on the baby’s scalp to measure their auditory evoked potentials in response to sounds. If there is no response, it may indicate reduced hearing ability.

It is not appropriate to use a distraction test on a newborn as they are not yet developed enough for this type of testing. This test is typically used for toddlers aged 6-9 months and requires two staff members. The test involves producing sounds to the right or left of the baby, out of their field of view, and assessing the loudness required for them to react.

Newborn otoacoustic emission testing is the initial screening assessment for hearing in newborns. However, this is only a screening test and further investigations are required to confirm any hearing loss. The test works by generating a click sound through an earpiece and measuring for the presence of a soft echo, which indicates a healthy cochlea.

Pure tone audiometry is not an appropriate second-line hearing investigation for newborns. This test requires the participant to indicate when they hear specific sounds and is typically used in school-aged children. Therefore, it is not useful for newborns.

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.

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

Whooping Cough: Causes, Symptoms, Diagnosis, and Management

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

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

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

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

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

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

Coeliac Disease and Failure to Thrive in Children

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

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

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

Paracetamol is commonly used to treat fever and pain in children. While there is a small chance of developing epilepsy, the risk is minimal. Additionally, there is no proof that paracetamol reduces the likelihood of future seizures.

Febrile convulsions are seizures caused by fever in children aged 6 months to 5 years. They typically last less than 5 minutes and are most commonly tonic-clonic. There are three types: simple, complex, and febrile status epilepticus. Children who have had a first seizure or any features of a complex seizure should be admitted to pediatrics. Regular antipyretics do not reduce the chance of a febrile seizure occurring. The overall risk of further febrile convulsion is 1 in 3, with risk factors including age of onset, fever duration, family history, and link to epilepsy. Children without risk factors have a 2.5% risk of developing epilepsy, while those with all three features have a much higher risk.

There are several medical conditions that can affect newborns and infants, including pyloric stenosis, congenital duodenal atresia, Hirschsprung’s disease, tracheoesophageal fistula (TOF), and necrotising enterocolitis (NEC). Pyloric stenosis is a condition where the circular pyloric muscle becomes hypertrophied, leading to non-bilious, projectile vomiting and constipation. Congenital duodenal atresia is the absence or closure of a portion of the lumen of the duodenum, causing bile-stained vomiting, abdominal distension, and inability to pass meconium. Hirschsprung’s disease is a congenital defect where ganglion cells fail to migrate into the hindgut, leading to functional intestinal obstruction and failure to pass meconium. TOF is a communication between the trachea and oesophagus, usually associated with oesophageal atresia, causing choking, coughing, and cyanosis during feeding. NEC is a condition primarily seen in premature infants, where portions of the bowel undergo necrosis, causing bilious vomiting, distended abdomen, and bloody stools. It is important to recognize the symptoms of these conditions early on to ensure prompt treatment and prevent complications.

Understanding Nephrogenic Diabetes Insipidus: Differentiating it from Primary Polydipsia and Cranial Diabetes Insipidus

Nephrogenic diabetes insipidus (DI) is a condition where the nephron fails to concentrate urine despite adequate levels of antidiuretic hormone (ADH) due to insensitivity of the ADH receptors. In contrast, primary polydipsia is characterized by normal ADH secretion and renal sensitivity to ADH, but compulsive water consumption leading to polyuria. Cranial diabetes insipidus, on the other hand, is caused by impaired ADH secretion.

To differentiate between these conditions, a water deprivation test is conducted. In nephrogenic DI, after eight hours of water deprivation, serum osmolality increases while urine osmolality remains low. Administering 2 μg desmopressin has no effect as the ADH receptors remain insensitive. In primary polydipsia, ADH secretion increases during water deprivation, resulting in retention of water by the kidneys, leading to normal serum osmolality and increased urine osmolality. In cranial diabetes insipidus, serum osmolality increases after water deprivation, but administration of desmopressin should result in a return to normal serum osmolality and a concurrent rise in urine osmolality.

In cases where the water deprivation test shows abnormal results, further testing may be required. However, in the case of nephrogenic DI, the abnormal results indicate impairment in osmolality regulation due to insensitivity of the renal ADH receptors.

Indomethacin is the preferred treatment for patent ductus arteriosus (PDA) in newborns, administered postnatally rather than antenatally to the mother. PDA is a congenital heart condition characterized by a left-right shunt where blood flows from the aorta to the pulmonary vessel through the patent ductus arteriosus. Although newborns with PDA may appear normal, a continuous machine-like murmur can be detected upon auscultation. Premature babies are more likely to have PDA, which may spontaneously close in asymptomatic patients. Symptomatic babies undergo an echocardiogram a few days after birth to determine whether medical or surgical management is necessary. Medical management involves administering indomethacin or ibuprofen to the newborn, while prophylactic treatment immediately after delivery or administering medication to the mother has no role in PDA closure. Prostaglandin analogues can maintain ductus arteriosus patency after birth and are useful in managing certain congenital heart diseases.

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.

The symptoms exhibited by this patient are consistent with chickenpox, including lesions at various stages of healing, fever, and itching. However, it is important to note that the use of NSAIDs can increase the risk of necrotising fasciitis in chickenpox patients. While ibuprofen is a suitable NSAID for patients of all ages, it is important to avoid aspirin due to the risk of Reye’s syndrome in children with chickenpox. Short-term use of ibuprofen during acute febrile illnesses is unlikely to cause significant gastrointestinal side effects.

Chickenpox: Causes, Symptoms, and Management

Chickenpox is a viral infection caused by the varicella zoster virus. It is highly contagious and can be spread through respiratory droplets. The virus can also reactivate later in life, causing shingles. Chickenpox is most infectious four days before the rash appears and until five days after the rash first appears. The incubation period is typically 10-21 days. Symptoms include fever, an itchy rash that starts on the head and trunk before spreading, and mild systemic upset.

Management of chickenpox is supportive and includes keeping cool, trimming nails, and using calamine lotion. School exclusion is recommended during the infectious period. Immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops, IV acyclovir may be considered. Secondary bacterial infection of the lesions is a common complication, which may be increased by the use of NSAIDs. In rare cases, invasive group A streptococcal soft tissue infections may occur, resulting in necrotizing fasciitis. Other rare complications include pneumonia, encephalitis, disseminated haemorrhagic chickenpox, arthritis, nephritis, and pancreatitis.

Radiographic Findings in Varicella Pneumonia

Varicella pneumonia is a rare complication of chickenpox that can occur in immunocompromised patients or adults. Radiographic findings of healed varicella pneumonia may include miliary opacities throughout both lungs, which are of uniform size and dense, suggesting calcification. There is typically no focal lung parenchymal mass or cavitating lesion seen. These findings are characteristic of healed varicella pneumonia.

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

Transient synovitis is often the cause of hip pain in children following a previous illness, such as the flu. However, discharging the patient with oral antibiotics is not recommended as this condition is typically managed conservatively. Antibiotics may only be necessary if there are signs of a septic joint.

Similarly, discharging the patient with pain relief alone is not appropriate. Although a septic joint is unlikely, it cannot be ruled out without a formal assessment by orthopaedics.

Reassuring the patient and discharging them without assessment is also not an option. Given the child’s current fever and recent illness history, it is essential to conduct a thorough evaluation before considering discharge.

It is critical to refer a child with hip pain and a fever for same-day assessment to rule out the possibility of a septic joint. However, routine referral to orthopaedics is not necessary as this may cause unnecessary delays in urgent assessment.

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.

ITP, a condition characterized by low platelet count and symptoms such as epistaxis and unexplained bruising/petechiae, may be preceded by a viral infection that is self-limiting and can resolve within a year. The correct answer to the question is glandular fever, as constipation, epileptic fits, asthma attacks, and stress have not been linked to triggering ITP.

Understanding Immune Thrombocytopenia (ITP) in Children

Immune thrombocytopenic purpura (ITP) is a condition where the immune system attacks the platelets, leading to a decrease in their count. This condition is more common in children and is usually acute, often following an infection or vaccination. The antibodies produced by the immune system target the glycoprotein IIb/IIIa or Ib-V-IX complex, causing a type II hypersensitivity reaction.

The symptoms of ITP in children include bruising, a petechial or purpuric rash, and less commonly, bleeding from the nose or gums. A full blood count is usually sufficient to diagnose ITP, and a bone marrow examination is only necessary if there are atypical features.

In most cases, ITP resolves on its own within six months, without any treatment. However, if the platelet count is very low or there is significant bleeding, treatment options such as oral or IV corticosteroids, IV immunoglobulins, or platelet transfusions may be necessary. It is also advisable to avoid activities that may result in trauma, such as team sports. Understanding ITP in children is crucial for prompt diagnosis and management of this condition.

Understanding Transient Tachypnoea of the Newborn

Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

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

Ventricular Septal Defects

Ventricular septal defects (VSD) are a common congenital heart condition that can be classified by location and size. The size of the VSD determines the clinical features and haemodynamic consequences. Small VSDs generate a loud, harsh, pansystolic murmur that is heard best at the left sternal edge and often associated with a thrill. They have minimal haemodynamic consequence so children are asymptomatic. Large VSDs cause greater haemodynamic effects, such that there is little flow through the VSD causing a quiet murmur or none at all. These children present with cardiac failure at around 1 month and, if untreated, over 10-20 years they may progress to Eisenmenger syndrome with reversal of the shunt.

Central cyanosis in infancy would indicate that an alternative diagnosis is more likely. In addition, children with large VSDs suffer an increased frequency of chest infections. There is pulmonary hypertension with increased vascularity seen on chest x Ray and evidence on ECG e.g. upright T-waves in V1. Initially, they are treated with diuretics and an ACE inhibitor, with surgical closure performed at 3-6 months. On the other hand, small VSDs usually close spontaneously, so children are monitored with ECG and echocardiography. the classification and clinical features of VSDs is crucial in the diagnosis and management of this congenital heart condition.

The MenB vaccine is administered at 2, 4, and 12-13 months and has been included in the routine vaccination schedule in the UK, making it the first country to do so. The vaccine is given at 2 and 4 months, with a booster at 12 months, replacing the MenC vaccine that was previously given at 3 months. Additionally, individuals with certain long-term health conditions, such as asplenia or splenic dysfunction, sickle cell anaemia, coeliac disease, and complement disorders, are recommended to receive the MenB vaccine due to their increased risk of complications from meningococcal disease. It is important to note that the vaccine does not contain live bacteria and therefore cannot cause meningococcal disease.

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

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

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

Hypothyroidism is commonly found in individuals with Down syndrome, while the risk of hyperthyroidism is also increased. Type-1 diabetes is more prevalent in those with Down syndrome, but there is no association with ADHD. Fragile X is linked to ADHD, and male breast cancer is not associated with Down syndrome but has been linked to Klinefelter’s syndrome.

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

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

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

William’s syndrome is linked to unique physical characteristics such as elfin facies, a broad forehead, strabismus, and short stature. It is important to note that Klinefelter’s syndrome is characterized by a tall and slender stature. Edward’s syndrome is associated with rocker-bottom feet, while foetal alcohol syndrome is linked to a flattened philtrum. Turner’s syndrome and Noonan’s syndrome are associated with webbing of the neck. Individuals with William’s syndrome often have an elongated, not flat philtrum.

Understanding William’s Syndrome

William’s syndrome is a genetic disorder that affects neurodevelopment and is caused by a microdeletion on chromosome 7. The condition is characterized by a range of physical and cognitive features, including elfin-like facies, short stature, and learning difficulties. Individuals with William’s syndrome also tend to have a very friendly and social demeanor, which is a hallmark of the condition. Other common symptoms include transient neonatal hypercalcaemia and supravalvular aortic stenosis.

Diagnosis of William’s syndrome is typically made through FISH studies, which can detect the microdeletion on chromosome 7. While there is no cure for the condition, early intervention and support can help individuals with William’s syndrome to manage their symptoms and lead fulfilling lives. With a better understanding of this disorder, we can work towards improving the lives of those affected by it.

Understanding Dehydration in Children: Symptoms and Management

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

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

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

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

Achondroplasia and Other Causes of Short Stature

Achondroplasia is a genetic condition that affects bone growth, resulting in disproportionately short limbs and a greater sitting height compared to standing height. This is because the condition impairs the growth of cartilaginous bone, leading to much shorter arms and legs than the spine. Measuring sitting height can help estimate axial skeleton growth compared to standing height, which includes the limbs.

Other causes of short stature include Down’s syndrome and Noonan’s syndrome, which result in proportionate short stature and a similar standing and sitting centile. However, Fragile X syndrome and Klinefelter’s syndrome typically do not cause short stature. It is important to understand the underlying causes of short stature in order to provide appropriate medical care and support for individuals affected by these conditions.

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

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

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

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

If a baby’s femoral pulses are absent or weak during their 6-8 week check, it is important to discuss this immediately with paediatrics. Any signs of a critical or major congenital heart abnormality should also be seen urgently by a specialist. Advising the mother that these findings are normal would be inappropriate, as they are abnormal. While safety netting is important, the child should still be seen urgently by the appropriate specialist. Taking the child to the emergency department is not the best option, as they may not be equipped to deal with this issue and will likely refer to the paediatrics team themselves. Referring routinely to paediatrics or making an appointment in 2 weeks would waste valuable time in a potentially unwell child who needs urgent referral.

Congenital heart disease can be categorized into two types: acyanotic and cyanotic. Acyanotic heart diseases are more common and include ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis. VSD is the most common acyanotic heart disease, accounting for 30% of cases. ASDs are less common than VSDs, but they are more frequently diagnosed in adult patients as they tend to present later. On the other hand, cyanotic heart diseases are less common and include tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia. Fallot’s is more common than TGA, but TGA is the more common lesion at birth as patients with Fallot’s generally present at around 1-2 months. The presence of cyanosis in pulmonary valve stenosis depends on the severity and any other coexistent defects.

Understanding the Causes of Jaundice in Infants

Jaundice in newborns that lasts for more than two weeks is considered pathological and requires medical attention. In this case, the infant is exhibiting signs of conjugated hyperbilirubinemia, which is characterized by jaundice with pale stools and dark urine. This is indicative of biliary atresia, a condition that affects the liver and bile ducts.

Cystic fibrosis is another condition that may present in infants with recurrent respiratory infections, but it is not associated with jaundice. Cholelithiasis, or gallstones, is a common cause of obstructive jaundice, but it is more prevalent in middle-aged individuals. Breastfeeding jaundice occurs due to suboptimal milk intake, but it does not cause conjugated hyperbilirubinemia.

Physiological jaundice is common in infants and typically lasts for 1-2 weeks. However, if jaundice persists for more than two weeks, it is considered pathological and requires medical attention. It is important to understand the various causes of jaundice in infants to ensure prompt diagnosis and treatment.

Roseola infantum, also known as ‘sixth disease’, is a common illness among children aged 6 months to 2 years. It is characterized by a fever followed by a non-itchy, painless, maculopapular rash that mainly affects the trunk. Febrile seizures are also common. The illness is caused by the human herpes virus type 6B or 7, and no treatment is required. Long-term complications are rare.

Chickenpox, hand, foot and mouth disease, measles, and rubella are all differential diagnoses that can be ruled out based on the specific characteristics of their respective rashes and accompanying symptoms.

Understanding Roseola Infantum

Roseola infantum, also known as exanthem subitum or sixth disease, is a common illness that affects infants and is caused by the human herpes virus 6 (HHV6). This disease has an incubation period of 5-15 days and is typically seen in children aged 6 months to 2 years. The most common symptoms of roseola infantum include a high fever that lasts for a few days, followed by a maculopapular rash. Other symptoms may include Nagayama spots, which are papular enanthems on the uvula and soft palate, as well as cough and diarrhea.

In some cases, febrile convulsions may occur in around 10-15% of children with roseola infantum. While this can be concerning for parents, it is important to note that this is a common occurrence and typically resolves on its own. Additionally, HHV6 infection can lead to other possible consequences such as aseptic meningitis and hepatitis.

It is important to note that school exclusion is not necessary for children with roseola infantum. While this illness can be uncomfortable for infants, it is typically not serious and resolves on its own within a few days.

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.

The patient is experiencing cyclical abdominal pain and amenorrhoea, indicating a pathological delay in menarche rather than a normal physiological delay. A specialist should assess the patient, as an imperforate hymen may be present, causing obstruction of menstrual blood outflow. An ultrasound scan can confirm the presence of haematocolpos, and initial treatment involves using oral contraceptives to suppress menses and analgesia to manage pain until surgical correction and drainage of collected blood occurs. Congenital uterine deformities are associated with pelvic pain, abnormal bleeding, recurrent miscarriages, and premature delivery. Hyperprolactinaemia and hypothyroidism are less likely causes, as the patient does not exhibit symptoms such as headaches, galactorrhoea, breast pain, fatigue, constipation, weight gain, cold intolerance, muscle weakness, depression, or altered mental function.

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

Slipped Upper Femoral Epiphysis: Symptoms and Risk Factors

Slipped upper femoral epiphysis is a condition that commonly affects obese adolescent boys with a positive family history. It is characterized by the displacement of the femoral head from the femoral neck, which can lead to a range of symptoms.

The most common symptoms of slipped upper femoral epiphysis include an externally rotated hip and antalgic gait, decreased internal rotation, thigh atrophy (depending on the chronicity of symptoms), and hip, thigh, and knee pain.

It is important to note that 25% of cases are bilateral, meaning that both hips may be affected. This condition can be particularly debilitating for young people, as it can limit their mobility and cause significant discomfort.

Overall, it is important for healthcare professionals to be aware of the risk factors and symptoms of slipped upper femoral epiphysis, as early diagnosis and treatment can help to prevent further complications and improve outcomes for patients.