For children between the ages of 5 and 16 with asthma that is not being effectively managed with a combination of a short-acting beta agonist (SABA), low-dose inhaled corticosteroids (ICS), and a leukotriene receptor antagonist, it is recommended to add a long-acting beta agonist (LABA) to the treatment plan and discontinue the use of the leukotriene receptor antagonist.

Managing Asthma in Children: NICE Guidelines

Asthma management in children has been updated by NICE in 2017, following the 2016 BTS guidelines. The new guidelines for children aged 5-16 are similar to those for adults, with a stepwise approach for treatment. For newly-diagnosed asthma, short-acting beta agonist (SABA) is recommended. If symptoms persist, a combination of SABA and paediatric low-dose inhaled corticosteroid (ICS) is used. Leukotriene receptor antagonist (LTRA) is added if symptoms still persist, followed by long-acting beta agonist (LABA) if necessary. Maintenance and reliever therapy (MART) is used as a combination of ICS and LABA for daily maintenance therapy and symptom relief. For children under 5 years old, clinical judgement plays a greater role in diagnosis. The stepwise approach is similar to that for older children, with an 8-week trial of paediatric moderate-dose ICS before adding LTRA. If symptoms persist, referral to a paediatric asthma specialist is recommended.

It should be noted that NICE does not recommend changing treatment for well-controlled asthma patients simply to adhere to the latest guidelines. The definitions of low, moderate, and high-dose ICS have also changed, with different definitions for adults and children. For children, <= 200 micrograms budesonide or equivalent is considered a paediatric low dose, 200-400 micrograms is a moderate dose, and > 400 micrograms is a high dose. Overall, the new NICE guidelines provide a clear and concise approach to managing asthma in children.

As per current clinical practice, the child is not using an inhaled corticosteroid. However, the 2016 British Thoracic Society guidelines suggest that all children and adults should be prescribed an inhaled corticosteroid upon diagnosis. The previous approach of using only a short-acting beta agonist as the initial step has been eliminated. Therefore, the best course of action would be to introduce a ‘very low’ dose inhaled corticosteroid.

Managing Asthma in Children: NICE Guidelines

Asthma management in children has been updated by NICE in 2017, following the 2016 BTS guidelines. The new guidelines for children aged 5-16 are similar to those for adults, with a stepwise approach for treatment. For newly-diagnosed asthma, short-acting beta agonist (SABA) is recommended. If symptoms persist, a combination of SABA and paediatric low-dose inhaled corticosteroid (ICS) is used. Leukotriene receptor antagonist (LTRA) is added if symptoms still persist, followed by long-acting beta agonist (LABA) if necessary. Maintenance and reliever therapy (MART) is used as a combination of ICS and LABA for daily maintenance therapy and symptom relief. For children under 5 years old, clinical judgement plays a greater role in diagnosis. The stepwise approach is similar to that for older children, with an 8-week trial of paediatric moderate-dose ICS before adding LTRA. If symptoms persist, referral to a paediatric asthma specialist is recommended.

It should be noted that NICE does not recommend changing treatment for well-controlled asthma patients simply to adhere to the latest guidelines. The definitions of low, moderate, and high-dose ICS have also changed, with different definitions for adults and children. For children, <= 200 micrograms budesonide or equivalent is considered a paediatric low dose, 200-400 micrograms is a moderate dose, and > 400 micrograms is a high dose. Overall, the new NICE guidelines provide a clear and concise approach to managing asthma in children.

If a child develops swollen glands due to mumps, they should stay away from school for 5 days starting from the day the swelling began. As the child’s swollen glands started one day ago, they should not attend school for the next 5 days. Waiting for a month is not necessary, but the child should not return to school until the 5-day exclusion period is over, even if the swelling has not completely resolved. The option suggesting waiting until all swellings have resolved before returning to school is incorrect.

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

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.

Common Knee Problems in Children and Young Adults

Knee problems are common in children and young adults, especially those who are active in sports.
Chondromalacia patellae is a condition that is more common in teenage girls. It is characterized by the softening of the cartilage of the patella, which can cause anterior knee pain when walking up and down stairs or rising from prolonged sitting. This condition usually responds well to physiotherapy.

Osgood-Schlatter disease, also known as tibial apophysitis, is often seen in sporty teenagers. It causes pain, tenderness, and swelling over the tibial tubercle.

Osteochondritis dissecans can cause pain after exercise, as well as intermittent swelling and locking of the knee.

Patellar subluxation can cause medial knee pain due to lateral subluxation of the patella. The knee may also give way.

Patellar tendonitis is more common in athletic teenage boys. It causes chronic anterior knee pain that worsens after running. On examination, the area below the patella is tender. It is important to note that referred pain may come from hip problems such as slipped upper femoral epiphysis.

Delta F508 on the long arm of chromosome 7 accounts for the majority of CF cases, with approximately 1 in 2500 births being affected by the disease. The carrier rate is estimated to be around 1 in 25.

Understanding Cystic Fibrosis and the Organisms that Affect Patients

Cystic fibrosis is a genetic disorder that causes thickened secretions in the lungs and pancreas. This condition is caused by a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which regulates chloride channels. In the UK, 80% of CF cases are due to delta F508 on chromosome 7, and the carrier rate is approximately 1 in 25.

CF patients are susceptible to colonization by certain organisms, including Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus. These organisms can cause infections and exacerbate symptoms in CF patients. It is important for healthcare providers to monitor and manage these infections to improve patient outcomes. By understanding the genetic basis of CF and the organisms that affect patients, healthcare providers can provide better care for those with this condition.

Threadworm Infestation in Children

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

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

Wilms’ Tumour: A Common Childhood Malignancy

Wilms’ nephroblastoma is a prevalent type of cancer that affects children, with most cases occurring in those under the age of five. It is often associated with Beckwith-Wiedemann syndrome, hemihypertrophy, and a loss-of-function mutation in the WT1 gene on chromosome 11. The most common presenting feature is an abdominal mass, which is usually painless. Other symptoms may include pain in the flank, anorexia, and fever. In 95% of cases, the tumour is unilateral. Metastases are found in 20% of patients, with the lungs being the most commonly affected site.

If a child presents with an unexplained enlarged abdominal mass, it is essential to arrange a paediatric review within 48 hours to rule out the possibility of Wilms’ tumour. The management of this condition typically involves nephrectomy, chemotherapy, and radiotherapy in cases of advanced disease. The prognosis for Wilms’ tumour is generally good, with an 80% cure rate.

Histologically, Wilms’ tumour is characterized by epithelial tubules, areas of necrosis, immature glomerular structures, stroma with spindle cells, and small cell blastomatous tissues resembling the metanephric blastema.

Brushfield spots, which are small grey or brown spots found on the outer edge of the iris, are commonly observed in individuals with Down syndrome. Cataracts, on the other hand, involve clouding of the lens and are not likely present in this patient as their red reflex appears normal. Coloboma, a congenital defect that causes a gap in the lens, iris, or retina, is associated with Patau syndrome rather than Down syndrome. While there have been links between Down syndrome and congenital glaucoma, the patient’s history does not suggest this condition. A squint, or deviation in the gaze of an eye, is a separate issue altogether.

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.

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

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

Common Developmental Problems and Possible Causes

Developmental problems can manifest in various ways, including referral points such as not smiling at 10 weeks, inability to sit unsupported at 12 months, and failure to walk at 18 months. Fine motor skill problems may also arise, such as abnormal hand preference before 12 months, which could indicate cerebral palsy. Gross motor problems are often caused by a variant of normal, cerebral palsy, or neuromuscular disorders like Duchenne muscular dystrophy. Speech and language problems should always be checked for hearing issues, as they can also be caused by environmental deprivation or general development delay.

It is important to recognize these developmental problems early on and seek appropriate interventions to address them. By doing so, children can receive the necessary support to reach their full potential and overcome any challenges they may face. With proper care and attention, many children with developmental problems can go on to lead happy and fulfilling lives.

When dealing with precocious puberty, it is important to examine the size of the testicles to determine the underlying cause. In cases where the testicles are small, such as in this situation, it suggests an adrenal origin of the symptoms. On the other hand, if there is bilateral testicular enlargement, it may indicate central precocious puberty caused by an astrocytoma or other brain tumor. Testotoxicosis, which is associated with a history of childhood sexual aggression, would result in advanced development in all areas. A sex cord-gonadal stromal tumor would cause unilateral enlargement of the affected testicle. Finally, an idiopathic cause of precocious puberty would lead to advanced development in all pubertal areas, resulting in enlarged testicles.

Understanding Precocious Puberty

Precocious puberty is a condition where secondary sexual characteristics develop earlier than expected, before the age of 8 in females and 9 in males. It is more common in females and can be classified into two types: gonadotrophin dependent and gonadotrophin independent. The former is caused by premature activation of the hypothalamic-pituitary-gonadal axis, resulting in raised levels of FSH and LH. The latter is caused by excess sex hormones, with low levels of FSH and LH. In males, precocious puberty is uncommon and usually has an organic cause, such as gonadotrophin release from an intracranial lesion, gonadal tumour, or adrenal cause. In females, it is usually idiopathic or familial and follows the normal sequence of puberty. Organic causes are rare and associated with rapid onset, neurological symptoms and signs, and dissonance, such as in McCune Albright syndrome. Understanding precocious puberty is important for early detection and management of the condition.

It is important to reassure the mother that umbilical hernias in newborns usually resolve on their own by the age of 3. However, if the hernia persists beyond this age, surgery may be considered. As there are no alarming symptoms currently present, urgent or routine referrals are not necessary. The use of laxatives would only be recommended if there is a history of constipation or faecal loading.

Umbilical Hernia in Children: Causes and Treatment

Umbilical hernias are a common occurrence in children and are often detected during the newborn examination. This condition is characterized by a bulge or protrusion near the belly button, caused by a weakness in the abdominal muscles. While umbilical hernias can occur in any child, they are more common in Afro-Caribbean infants and those with Down’s syndrome or mucopolysaccharide storage diseases.

Fortunately, in most cases, umbilical hernias in children do not require treatment and will resolve on their own by the age of three. However, if the hernia persists beyond this age or becomes painful, surgery may be necessary to repair the abdominal wall. It is important to monitor the hernia and seek medical attention if there are any changes in size or symptoms.

In summary, umbilical hernias are a common condition in children that typically resolve on their own without treatment. However, certain factors such as ethnicity and underlying medical conditions may increase the likelihood of developing an umbilical hernia. Parents should be aware of the signs and symptoms of umbilical hernias and seek medical attention if necessary.

Genetic Disorders and Associated Phenotypic Features

Trisomy 21: Down Syndrome and Duodenal Atresia
Neonates with Down syndrome have an increased risk of duodenal atresia, accounting for around a third of cases. Prenatal imaging can detect this condition, which presents with bilious vomiting within hours of birth. Down syndrome is also characterized by distinct physical features such as brachiocephaly, upward slanting palpebral fissures, and joint hyperflexibility.

45,XO: Turner Syndrome and Cardiac Defects
Turner syndrome affects females with a genetic complement of 45XO. It is characterized by short stature, webbed neck, and lymphoedema. Cardiac defects, including coarctation of the aorta, may also be present.

Fragile X: Learning Disability and Autism
Fragile X is a common X-linked form of learning disability and autism. Physical features are difficult to detect in infancy, but delayed motor milestones and speech and language delay may be present. Macro-orchidism is almost universal post-puberty, and cardiac defects, including mitral valve prolapse, may occur.

Trisomy 18: Edwards’ Syndrome and Neonatal Hypotonia
Trisomy 18, or Edwards’ syndrome, is characterized by neonatal hypotonia, apnoea, and seizures. There is severe psychomotor and growth retardation, microcephaly, and microphthalmia. Over 90% have cardiac defects, commonly VSD, as well as anomalies in most organ systems.

47,XXY: Klinefelter’s Syndrome and Infertility
Klinefelter’s syndrome affects males with a genetic complement of either 47,XXY or 48,XXXY. It is a random mutation, not inherited, and is characterized by tall stature, poorly developed testes or cryptorchidism, and gynaecomastia. Infertility is common. Physical features are not obvious in infancy.

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

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

Atopic eczema commonly appears in children before the age of 2, with symptoms often affecting the face and extensor surfaces of the body. This patient’s visible dermatitis in the extensor aspects of her body suggests a diagnosis of atopic eczema based on clinical presentation. Impetigo, pemphigus vulgaris, and psoriasis are unlikely diagnoses given the patient’s symmetrical dry rash involving the extensor aspects of the limbs.

Eczema in Children: Symptoms and Management

Eczema is a common skin condition that affects around 15-20% of children and is becoming more prevalent. It usually appears before the age of 2 and clears up in around 50% of children by the age of 5 and in 75% of children by the age of 10. The symptoms of eczema include an itchy, red rash that can worsen with repeated scratching. In infants, the face and trunk are often affected, while in younger children, it typically occurs on the extensor surfaces. In older children, the rash is more commonly seen on the flexor surfaces and in the creases of the face and neck.

To manage eczema in children, it is important to avoid irritants and use simple emollients. Large quantities of emollients should be prescribed, roughly in a ratio of 10:1 with topical steroids. If a topical steroid is also being used, the emollient should be applied first, followed by waiting at least 30 minutes before applying the topical steroid. Creams are absorbed into the skin faster than ointments, and emollients can become contaminated with bacteria, so fingers should not be inserted into pots. Many brands have pump dispensers to prevent contamination.

In severe cases, wet wrapping may be used, which involves applying large amounts of emollient (and sometimes topical steroids) under wet bandages. Oral ciclosporin may also be used in severe cases. Overall, managing eczema in children involves a combination of avoiding irritants, using emollients, and potentially using topical steroids or other medications in severe cases.

Understanding and Managing Nocturnal Enuresis in Children

Nocturnal enuresis, or bedwetting, is a common issue among children. While it can sometimes be caused by an underlying medical condition, such as a urinary tract infection or diabetes, in most cases it is simply a developmental issue that will resolve on its own over time.

It is important to have a medical evaluation to rule out any underlying medical conditions, but once those have been ruled out, treatment is generally not recommended until the child is at least six years old. In the meantime, parents can use star charts and enuresis alarms to help motivate their child to stay dry at night.

It is also important to consider any psychological issues that may be contributing to the problem. Parents should ask their child about their school performance, friendships, and home life, and try to speak to the child alone if possible to get a better understanding of any stressors that may be affecting them.

There is no need for a referral for an ultrasound scan unless there is a suspicion of a structural abnormality. Desmopressin nasal spray can be prescribed for short-term relief, but oral imipramine is no longer recommended. Prophylactic antibiotics are also not indicated for nocturnal enuresis.

Overall, parents should be reassured that bedwetting is a common issue that many children experience, and with time and patience, it will likely resolve on its own.

The chance of Down syndrome increases with maternal age:
Age (years) Chance
20 1:1500
30 1:800
35 1:270
40 1:100
>45 >1:50

Therefore, the correct answer is 1 in 100.

Benign rolandic epilepsy is identified by the occurrence of partial seizures during the night.

The child displays typical indications of benign rolandic epilepsy, which is distinguished by partial seizures that occur during the night. Reflex anoxic seizures are caused by anoxia and typically manifest as syncope and subsequent convulsions in very young children. Panayiotopoulos syndrome is characterised by seizures, often prolonged, with predominantly autonomic symptoms such as nausea and retching. Idiopathic childhood occipital epilepsy of Gastaut is mainly characterised by visual hallucinations. Night terrors are a sleep disorder that causes feelings of dread or terror, typically during REM sleep.

Benign rolandic epilepsy is a type of epilepsy that usually affects children between the ages of 4 and 12 years. This condition is characterized by seizures that typically occur at night and are often partial, causing sensations in the face. However, these seizures may also progress to involve the entire body. Despite these symptoms, children with benign rolandic epilepsy are otherwise healthy and normal.

Diagnosis of benign rolandic epilepsy is typically confirmed through an electroencephalogram (EEG), which shows characteristic centrotemporal spikes. Fortunately, the prognosis for this condition is excellent, with seizures typically ceasing by adolescence. While the symptoms of benign rolandic epilepsy can be concerning for parents and caregivers, it is important to remember that this condition is generally not associated with any long-term complications or developmental delays.

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

Coeliac Disease in Children: Causes, Symptoms, and Diagnosis

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

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

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

A baby has been diagnosed with cow’s milk protein intolerance, which is a common condition affecting many infants within the first 3 months of life. The severity of the case is considered mild-moderate, as the baby’s size and weight are appropriate for their age. Primary care can manage this condition initially by switching to an extensive hydrolysed formula. An oral challenge is not recommended, as it is typically reserved for cases with significant diagnostic uncertainty or to determine if a food allergy has resolved. Referral to a paediatrician is not necessary at this stage. If the initial switch to an extensive hydrolysed formula does not alleviate symptoms, an amino acid-based formula can be tried. It is not appropriate to suggest that the mother switch to breastfeeding, as this decision should be respected. Even exclusively breastfed babies can develop cow’s milk protein intolerance, and in those cases, the mother should eliminate cow’s milk from her diet while continuing to breastfeed.

Understanding Cow’s Milk Protein Intolerance/Allergy

Cow’s milk protein intolerance/allergy (CMPI/CMPA) is a condition that affects around 3-6% of children, typically presenting in the first 3 months of life in formula-fed infants. Both immediate and delayed reactions can occur, with CMPA used for immediate reactions and CMPI for mild-moderate delayed reactions. Symptoms include regurgitation, vomiting, diarrhea, urticaria, atopic eczema, colic symptoms, wheeze, chronic cough, and rarely, angioedema and anaphylaxis. Diagnosis is often clinical, with investigations including skin prick/patch testing and total IgE and specific IgE (RAST) for cow’s milk protein.

Management for formula-fed infants includes using extensive hydrolyzed formula (eHF) milk as the first-line replacement formula for mild-moderate symptoms and amino acid-based formula (AAF) for severe CMPA or if no response to eHF. Around 10% of infants are also intolerant to soya milk. For breastfed infants, mothers should eliminate cow’s milk protein from their diet and consider prescribing calcium supplements to prevent deficiency. eHF milk can be used when breastfeeding stops until at least 6 months and up to 12 months of age.

The prognosis for CMPI is usually good, with most children becoming milk tolerant by the age of 3-5 years. However, a challenge is often performed in a hospital setting as anaphylaxis can occur. It is important to refer infants with severe symptoms to a pediatrician for management. Understanding CMPI/CMPA and its management can help parents and healthcare providers provide appropriate care for affected children.

Diagnostic Tests for Haemophilia: Factor VIII Assay, Prothrombin Time/INR, Platelet Count, Bone Marrow Examination, and Blood Film

Haemophilia is an X-linked bleeding disorder caused by deficiency of clotting factor VIII (haemophilia A) or factor IX (haemophilia B). Patients may present with bruising, inadequate clotting with mild injury, or spontaneous haemorrhage. To diagnose haemophilia A, a factor VIII assay is necessary. Other diagnostic tests include prothrombin time/INR, platelet count, bone marrow examination, and blood film. The prothrombin time and platelet count are normal in haemophilia, while bone marrow sampling carries a risk of significant bleeding. A blood film is not useful in the diagnosis as red blood cells and platelet count are normal.

Understanding Napkin Rashes and How to Manage Them

Napkin rashes, also known as nappy rashes, are common skin irritations that affect babies and young children. The most common cause of napkin rash is irritant dermatitis, which is caused by the irritant effect of urinary ammonia and faeces. This type of rash typically spares the creases. Other causes of napkin rash include candida dermatitis, seborrhoeic dermatitis, psoriasis, and atopic eczema.

To manage napkin rash, it is recommended to use disposable nappies instead of towel nappies and to expose the napkin area to air when possible. Applying a barrier cream, such as Zinc and castor oil, can also help. In severe cases, a mild steroid cream like 1% hydrocortisone may be necessary. If the rash is suspected to be candidal nappy rash, a topical imidazole should be used instead of a barrier cream until the candida has settled.

Understanding the different types of napkin rashes and their causes is important in managing them effectively. By following these general management points, parents and caregivers can help prevent and alleviate napkin rashes in babies and young children.

Management of Fever in a High-Risk Child

When managing a child with fever, it is important to consider their age and any accompanying symptoms. According to the NICE guideline on ‘Fever in under 5s’, children aged <3 months with a temperature of 38°C are at high risk for serious illness. In such cases, it is recommended to refer the child urgently to a paediatric specialist. Encouraging fluids may be useful, but it should not be relied upon to rule out serious underlying illness. Similarly, antipyretics may be given before the child is seen by the paediatric team, but it is important to consult the NICE guideline for appropriate dosages. Blind prescription of oral antibiotics or IM benzylpenicillin is not recommended without a clear source of infection and discussion with the on-call paediatric team. Therefore, it is crucial to refer high-risk children to the paediatric on-call team for further management.

According to NICE, breastfed infants who experience frequent regurgitation accompanied by significant distress should be given a trial of alginate therapy (such as Gaviscon) after each feed for a period of 1-2 weeks. If symptoms persist, a 4-week trial of a proton pump inhibitor (such as oral omeprazole) or a histamine-2 receptor antagonist (such as oral ranitidine) should be administered. If symptoms continue despite these treatments, it may be necessary to refer the infant to a paediatrician. For bottle-fed infants with reflux, thickened feeds are recommended.

Understanding Gastro-Oesophageal Reflux in Children

Gastro-oesophageal reflux is a common cause of vomiting in infants, with around 40% of babies experiencing some degree of regurgitation. However, certain risk factors such as preterm delivery and neurological disorders can increase the likelihood of developing this condition. Symptoms typically appear before 8 weeks of age and include vomiting or regurgitation, milky vomits after feeds, and excessive crying during feeding. Diagnosis is usually made based on clinical observation.

Management of gastro-oesophageal reflux in children involves advising parents on proper feeding positions, ensuring the infant is not being overfed, and considering a trial of thickened formula or alginate therapy. Proton pump inhibitors are not recommended unless the child is experiencing unexplained feeding difficulties, distressed behavior, or faltering growth. Ranitidine, previously used as an alternative to PPIs, has been withdrawn from the market due to the discovery of carcinogens in some products. Prokinetic agents should only be used with specialist advice.

Complications of gastro-oesophageal reflux in children include distress, failure to thrive, aspiration, frequent otitis media, and dental erosion in older children. In severe cases where medical treatment is ineffective, fundoplication may be considered. It is important for parents and caregivers to understand the symptoms and management options for gastro-oesophageal reflux in children to ensure the best possible outcomes for their little ones.

Do not perform oral or throat examination on a child with suspected acute epiglottitis as it may lead to further airway obstruction and distress. Basic observations can be done but call the senior paediatric team and an anaesthetist.

Stridor in Children: Causes and Symptoms

Stridor is a high-pitched, wheezing sound that occurs during breathing and is commonly seen in children. There are several causes of stridor in children, including croup, acute epiglottitis, inhaled foreign body, and laryngomalacia. Croup is a viral infection that affects the upper respiratory tract and is characterized by stridor, barking cough, fever, and coryzal symptoms. Acute epiglottitis is a rare but serious infection caused by Haemophilus influenzae type B, which can lead to airway obstruction. Inhaled foreign body can cause sudden onset of coughing, choking, vomiting, and stridor, depending on the site of impaction. Laryngomalacia is a congenital abnormality of the larynx that typically presents at 4 weeks of age with stridor.

It is important to recognize the symptoms of stridor in children and seek prompt medical attention, especially if the child appears unwell or toxic. Treatment may include medications, such as corticosteroids or nebulized epinephrine, or in severe cases, intubation or tracheostomy. Prevention measures, such as vaccination against Haemophilus influenzae type B, can also help reduce the incidence of acute epiglottitis. Overall, early recognition and management of stridor in children can help prevent complications and improve outcomes.

Labial adhesions are typically caused by low levels of estrogen and are usually treated conservatively as they often resolve during puberty. However, if there are recurrent urinary tract infections, oestrogen creams may be considered as a treatment option. The use of trimethoprim pessary, IV dexamethasone, and oral prednisolone are not appropriate treatments for labial adhesions. It is important to address the adhesion as leaving it untreated can lead to complications.

Labial Adhesions: A Common Condition in Young Girls

Labial adhesions refer to the fusion of the labia minora in the middle, which is commonly observed in girls aged between 3 months and 3 years. This condition can be treated conservatively, and spontaneous resolution usually occurs around puberty. It is important to note that labial adhesions are different from an imperforate hymen.

Symptoms of labial adhesions include problems with urination, such as pooling in the vagina. Upon examination, thin semitranslucent adhesions covering the vaginal opening between the labia minora may be seen, which can sometimes cover the vaginal opening completely.

Conservative management is typically appropriate for most cases of labial adhesions. However, if there are associated problems such as recurrent urinary tract infections, oestrogen cream may be tried. If this fails, surgical intervention may be necessary.

In summary, labial adhesions are a common condition in young girls that can be managed conservatively. It is important to seek medical attention if symptoms persist or worsen.

The absence of the red-reflex may be a symptom of a congenital cataract, but this condition is typically identified at birth or during routine infant screenings. Additionally, a congenital cataract would not account for the familial history of enucleation.

Retinoblastoma is a prevalent type of eye cancer that is commonly found in children, with an average age of diagnosis at 18 months. It is caused by a loss of function of the retinoblastoma tumor suppressor gene on chromosome 13, which is inherited in an autosomal dominant pattern. About 10% of cases are hereditary. The most common presenting symptom is the absence of red-reflex, which is replaced by a white pupil (leukocoria). Other possible features include strabismus and visual problems.

When it comes to managing retinoblastoma, enucleation is not the only option. Depending on how advanced the tumor is, other treatment options include external beam radiation therapy, chemotherapy, and photocoagulation. The prognosis for retinoblastoma is excellent, with over 90% of patients surviving into adulthood.

Aortic stenosis is commonly seen in individuals with William’s syndrome, which is characterized by distinct facial features such as a small upturned nose, long philtrum, wide mouth, full lips, small chin, and puffiness around the eyes. On the other hand, Down’s syndrome is typically associated with atrioventricular septal defects, while Klinefelter syndrome is linked to hypogonadism. Angelman syndrome, on the other hand, is not commonly associated with aortic stenosis.

Aortic Stenosis in Children: Causes and Management

Aortic stenosis is a type of congenital heart disease that affects 5% of children. It can be associated with other conditions such as William’s syndrome, coarctation of the aorta, and Turner’s syndrome. The aim of management is to delay or avoid valve replacement if possible. However, if the gradient across the valve is greater than 60 mmHg, balloon valvotomy may be necessary. It is important to monitor and manage aortic stenosis in children to prevent complications and ensure optimal health outcomes.

Trinucleotide repeat disorders exhibit earlier onset in successive generations due to anticipation, which is often accompanied by an escalation in symptom severity.

Trinucleotide repeat disorders are genetic conditions that occur due to an abnormal number of repeats of a repetitive sequence of three nucleotides. These expansions are unstable and can enlarge, leading to an earlier age of onset in successive generations, a phenomenon known as anticipation. In most cases, an increase in the severity of symptoms is also observed. It is important to note that these disorders are predominantly neurological in nature.

Examples of trinucleotide repeat disorders include Fragile X, Huntington’s, myotonic dystrophy, Friedreich’s ataxia, spinocerebellar ataxia, spinobulbar muscular atrophy, and dentatorubral pallidoluysian atrophy. Friedreich’s ataxia is unique in that it does not demonstrate anticipation.