Croup affects 6 months to 3 years old and is caused by parainfluenza virus, while bronchiolitis affects 1-9 month olds and is caused by respiratory syncytial virus. Neonatal respiratory distress can occur due to prematurity.

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.

Withholding fluids for 2 hours before bedtime is not recommended as part of enuresis management. While limiting fluid intake throughout the day and before bedtime, especially caffeinated drinks, is advised, completely withholding fluids is not recommended. Referring the patient for sleep studies is not the most appropriate management at this stage, although other conditions that can worsen enuresis, such as sleep-disordered breathing, should be considered. Desmopressin, an analogue of anti-diuretic hormone (ADH), is not indicated at this stage and is only used when general advice and enuresis alarm have failed. The primary goal of management is to achieve dry nights at follow-up.

Nocturnal enuresis, or bedwetting, is when a child involuntarily urinates during the night. Most children achieve continence by the age of 3 or 4, so enuresis is defined as the involuntary discharge of urine in a child aged 5 or older without any underlying medical conditions. Enuresis can be primary, meaning the child has never achieved continence, or secondary, meaning the child has been dry for at least 6 months before.

When managing bedwetting, it’s important to look for any underlying causes or triggers, such as constipation, diabetes mellitus, or recent onset UTIs. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Reward systems, like star charts, can also be helpful, but should be given for agreed behavior rather than dry nights.

The first-line treatment for bedwetting is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up to use the toilet. If short-term control is needed, such as for sleepovers, or if the alarm is ineffective or not acceptable to the family, desmopressin may be prescribed. Overall, managing bedwetting involves identifying any underlying causes and implementing strategies to promote continence.

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.

Understanding Nephrotic Syndrome in Children

Nephrotic syndrome is a medical condition that is characterized by three main symptoms: proteinuria, hypoalbuminaemia, and oedema. This condition is most commonly seen in children between the ages of 2 and 5 years old. In fact, around 80% of cases in children are caused by a condition called minimal change glomerulonephritis. Fortunately, this condition has a good prognosis, with approximately 90% of cases responding well to high-dose oral steroids.

Aside from the main symptoms, children with nephrotic syndrome may also experience hyperlipidaemia, a hypercoagulable state, and a higher risk of infection. These additional features are caused by the loss of antithrombin III and immunoglobulins in the body.

Overall, understanding nephrotic syndrome in children is important for parents and healthcare professionals alike. With proper treatment and management, most children with this condition can recover and lead healthy lives.

The recommended initial treatment for paediatric migraines is ibuprofen. Sumatriptan nasal spray is only approved for use in children over the age of 12, and oral sumatriptan is not approved for those under 18. Codeine and oramorph are not recommended for treating migraines in children. Indomethacin is also not typically used for paediatric migraines.

Understanding Headaches in Children

Headaches are a common occurrence in children, with up to 50% of 7-year-olds and 80% of 15-year-olds experiencing at least one headache. Migraine without aura is the most common cause of primary headache in children, with a strong female preponderance after puberty. The International Headache Society has produced criteria for diagnosing pediatric migraine without aura, which includes headache attacks lasting 4-72 hours, with at least two of four specific features and accompanying symptoms such as nausea and vomiting.

When it comes to acute management, ibuprofen is considered more effective than paracetamol for pediatric migraine. Triptans may be used in children over 12 years old, but follow-up is required, and only sumatriptan nasal spray is licensed for use in young people. However, oral triptans are not currently licensed for those under 18 years old, and side effects may include tingling, heat, and pressure sensations.

Prophylaxis for pediatric migraine is limited, with no clear consensus guidelines. Pizotifen and propranolol are recommended as first-line preventatives, while valproate, topiramate, and amitriptyline are considered second-line preventatives. Tension-type headache is the second most common cause of headache in children, with diagnostic criteria including at least 10 previous headache episodes lasting from 30 minutes to 7 days, with specific pain characteristics and the absence of nausea or vomiting.

In summary, headaches in children are common, and migraine without aura is the most common primary headache. Acute management includes ibuprofen and triptans, while prophylaxis is limited. Tension-type headache is also a common cause of headache in children. It is important to seek medical advice if headaches are frequent or severe, or if there are any concerning symptoms such as neurological deficits or changes in behavior.

Gastroschisis is a bowel condition where the intestines are exposed and not encased by a sac. It is not associated with cardiac and kidney diseases, unlike exomphalos. It can be diagnosed through routine ultrasound, but may be missed if the mother does not engage in antenatal care. It is not a normal variant and is not necessarily associated with prematurity.

Gastroschisis and exomphalos are both types of congenital visceral malformations. Gastroschisis refers to a defect in the anterior abdominal wall located just beside the umbilical cord. In contrast, exomphalos, also known as omphalocoele, involves the protrusion of abdominal contents through the anterior abdominal wall, which are covered by an amniotic sac formed by amniotic membrane and peritoneum.

When it comes to managing gastroschisis, vaginal delivery may be attempted, but newborns should be taken to the operating theatre as soon as possible after delivery, ideally within four hours. As for exomphalos, a caesarean section is recommended to reduce the risk of sac rupture. In cases where primary closure is difficult due to lack of space or high intra-abdominal pressure, a staged repair may be undertaken. This involves allowing the sac to granulate and epithelialise over several weeks or months, forming a shell. As the infant grows, the sac contents will eventually fit within the abdominal cavity, at which point the shell can be removed and the abdomen closed.

Overall, both gastroschisis and exomphalos require careful management to ensure the best possible outcome for the newborn. By understanding the differences between these two conditions and the appropriate steps to take, healthcare professionals can provide effective care and support to both the infant and their family.

An echocardiogram should be performed to screen for coronary artery aneurysms, which can be a complication of Kawasaki disease.

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.

When it comes to congenital heart disease, TGA and Fallot’s are the most common causes of cyanotic heart disease. However, TGA is more commonly seen in newborns, while Fallot’s typically presents a few months after a murmur is detected. VSD is the most common cause of acyanotic congenital heart disease.

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 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.

By the age of 2, children should have the ability to combine two words, indicating normal development. Therefore, there is no need to seek consultation with a paediatric specialist or schedule a follow-up appointment in the near future.

Developmental milestones for speech and hearing are important indicators of a child’s growth and development. These milestones can help parents and caregivers track a child’s progress and identify any potential issues early on. At three months, a baby should be able to quieten to their parents’ voice and turn towards sound. They may also start to squeal. By six months, they should be able to produce double syllables like adah and erleh. At nine months, they may say mama and dada and understand the word no. By 12 months, they should know and respond to their own name and understand simple commands like give it to mummy.

Between 12 and 15 months, a child may know about 2-6 words and understand more complex commands. By two years old, they should be able to combine two words and point to parts of their body. Their vocabulary should be around 200 words by 2 1/2 years old. At three years old, they should be able to talk in short sentences and ask what and who questions. They may also be able to identify colors and count to 10. By four years old, they may start asking why, when, and how questions. These milestones are important to keep in mind as a child grows and develops their speech and hearing abilities.

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.

Scalp edema known as caput seccedaneum can be identified by its ability to extend beyond the suture lines during examination.

Understanding Caput Succedaneum

Caput succedaneum is a condition that refers to the swelling of the scalp at the top of the head, usually at the vertex. This swelling is caused by the mechanical trauma that occurs during delivery, particularly in prolonged deliveries or those that involve the use of vacuum delivery. The condition is characterized by soft, puffy swelling due to localized edema that crosses suture lines.

Compared to cephalohaematoma, which is a collection of blood under the scalp, caput succedaneum is caused by edema. While cephalohaematoma is limited to a specific area and does not cross suture lines, caput succedaneum can affect a larger area and cross suture lines. Fortunately, no treatment is needed for caput succedaneum, as the swelling usually resolves on its own within a few days.

Anal itching in children is frequently caused by threadworms, which can be easily detected by observing moving white threads in the anal area at nighttime. Although examination may not reveal any significant findings, it is important to note that human roundworms are uncommon in the UK and typically do not result in itching.

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.

Fragile X Syndrome: A Genetic Disorder

Fragile X syndrome is a genetic disorder caused by a trinucleotide repeat. It affects both males and females, but males are more severely affected. Common features in males include learning difficulties, large low set ears, long thin face, high arched palate, macroorchidism, hypotonia, and a higher likelihood of autism. Mitral valve prolapse is also a common feature. Females, who have one fragile chromosome and one normal X chromosome, may have a range of symptoms from normal to mild.

Diagnosis of Fragile X syndrome can be made antenatally by chorionic villus sampling or amniocentesis. The number of CGG repeats can be analyzed using restriction endonuclease digestion and Southern blot analysis. Early diagnosis and intervention can help manage the symptoms of Fragile X syndrome and improve the quality of life for those affected.

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.

Coarctation of the aorta does not cause cyanosis.

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.

Managing Primary Enuresis in Children: Advice and Treatment Options

Primary enuresis, or bedwetting, is a common condition affecting 15-20% of children. It is characterized by nocturnal wetting without daytime symptoms and is thought to be caused by bladder dysfunction. Parents of children with primary enuresis may be reassured that their child is likely to grow out of the problem by age 15, with only 1% of patients continuing to have symptoms into adulthood.

Treatment options for primary enuresis include the use of an enuresis alarm combined with a reward system to teach and reward good habits. Fluid should not be restricted. In children over the age of 5, short-term control can be achieved with a prescription of desmopressin to prevent enuresis during sleepovers or school trips.

It is important to involve the child in the management plan and explore family habits. Referral to a paediatric urologist may be necessary for children with primary enuresis and daytime symptoms or for those who have failed two complete courses of treatment with an enuresis alarm or desmopressin.

Managing Primary Enuresis in Children: Advice and Treatment Options

The recommended first line treatment for threadworm is mebendazole. In this case, as the patient is showing symptoms of threadworm, it is important to treat all members of the household with a single dose of mebendazole and provide hygiene advice. While a ‘Scotch tape test’ can be used to confirm the presence of eggs or worms, treatment is often based on symptoms. It is not appropriate to only treat the daughter and provide hygiene advice, as other members of the household may also be infected. Additionally, prescribing 7 days of mebendazole for the daughter alone is incorrect, as a single dose is recommended and a second dose should be taken 14 days later. Piperazine is only recommended for children under 2 years old, so it is not appropriate to prescribe 14 days of piperazine for the daughter in this case.

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.

Reassurance and advice are sufficient for managing nocturnal enuresis in children under 5 years of age. It is important to reassure mothers that bedwetting is still common at the age of 4.

Nocturnal enuresis, or bedwetting, is when a child involuntarily urinates during the night. Most children achieve continence by the age of 3 or 4, so enuresis is defined as the involuntary discharge of urine in a child aged 5 or older without any underlying medical conditions. Enuresis can be primary, meaning the child has never achieved continence, or secondary, meaning the child has been dry for at least 6 months before.

When managing bedwetting, it’s important to look for any underlying causes or triggers, such as constipation, diabetes mellitus, or recent onset UTIs. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Reward systems, like star charts, can also be helpful, but should be given for agreed behavior rather than dry nights.

The first-line treatment for bedwetting is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up to use the toilet. If short-term control is needed, such as for sleepovers, or if the alarm is ineffective or not acceptable to the family, desmopressin may be prescribed. Overall, managing bedwetting involves identifying any underlying causes and implementing strategies to promote continence.

Acute epiglottitis is characterized by the sudden onset of fever, drooling, and stridor in a child. It is important to immediately call anaesthetics as there is a high risk of airway obstruction if the child becomes upset. The Hib vaccination is widely available and subsidized in many countries, including Poland where it has been available since the 1990s.

Humidified oxygen is commonly used to manage bronchiolitis, but it should be avoided in patients with suspected epiglottitis as it may cause distress and worsen the airway obstruction. IV hydrocortisone is not a first-line treatment for epiglottitis and cannulating a patient before securing their airway or having anaesthetics present is not recommended.

Nebulized salbutamol is useful for treating viral wheezing or asthma exacerbations, which present with an expiratory wheeze and fever, but not drooling. However, it should not be administered to a child with suspected epiglottitis until their airway is secured by anaesthetics to prevent further complications.

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.

The Meningitis ACWY vaccine is being gradually introduced and is recommended for all children during their 9th or 10th year of school. Instead of the Men C booster, they should receive this vaccination. The catch-up program is currently targeting individuals under the age of 25 who are starting university for the first time. It is recommended that they receive the vaccine a few weeks before beginning their studies.

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 pre-school 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.

For a child experiencing functional constipation and showing signs of faecal impaction, the recommended first-line treatment is macrogols like Movicol. Docusate and senna are not the initial options but can be added if disimpaction is not achieved within two weeks. Lactulose is also a suitable osmotic laxative, but macrogols are more effective and therefore preferred as the first-line treatment. Liquid paraffin may be used as a lubricating laxative, but macrogols are more effective and should be used first. Psyllium husk is not appropriate for treating faecal impaction and may worsen the situation, so disimpaction should be achieved before increasing fibre intake.

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.

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.

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.

Escherichia coli is the most frequent organism responsible for UTIs in both children and adults. Streptococcus pneumonia is more commonly associated with pneumonia or otitis media, while Staphylococcus aureus is more likely to cause skin infections like impetigo. Herpes is a viral infection that causes oral or genital ulcerations and whitlow. Although not impossible, a fungal-induced UTI is unlikely.

Investigating Urinary Tract Infections in Children

When a child develops a urinary tract infection (UTI), it is important to consider the possibility of underlying causes and kidney damage. Unlike in adults, UTIs in children can lead to renal scarring. The National Institute for Health and Care Excellence (NICE) has provided guidelines for imaging the urinary tract in children with UTIs. Infants under six months of age who have their first UTI and respond to treatment should have an ultrasound within six weeks. However, children over six months of age who respond to treatment for their first UTI do not require imaging unless there are features suggestive of an atypical infection or recurrent infection.

Features that suggest an atypical infection include being seriously ill, having poor urine flow, an abdominal or bladder mass, raised creatinine, septicemia, failure to respond to suitable antibiotics within 48 hours, or infection with non-E. coli organisms. If any of these features are present, further investigations may be necessary. Urine should be sent for microscopy and culture, as only 50% of children with a UTI have pyuria. A static radioisotope scan, such as DMSA, can identify renal scars and should be done 4-6 months after the initial infection. Micturating cystourethrography (MCUG) can identify vesicoureteric reflux and is only recommended for infants under six months of age who present with atypical or recurrent infections.

The ejection systolic murmur present in this patient is likely due to her Turner’s syndrome, which is associated with a bicuspid aortic valve. A continuous machinery murmur, late systolic murmur, and mid-late diastolic murmur are less likely causes, as they are associated with different conditions that are not commonly seen in patients with Turner’s syndrome.

Understanding Turner’s Syndrome

Turner’s syndrome is a genetic disorder that affects approximately 1 in 2,500 females. It is caused by the absence of one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. This condition is denoted as 45,XO or 45,X.

The features of Turner’s syndrome include short stature, a shield chest with widely spaced nipples, a webbed neck, a bicuspid aortic valve (15%), coarctation of the aorta (5-10%), primary amenorrhea, cystic hygroma (often diagnosed prenatally), a high-arched palate, a short fourth metacarpal, multiple pigmented naevi, lymphoedema in neonates (especially feet), and elevated gonadotrophin levels. Hypothyroidism is much more common in Turner’s syndrome, and there is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease.

In summary, Turner’s syndrome is a chromosomal disorder that affects females and can cause a range of physical features and health issues. Early diagnosis and management can help individuals with Turner’s syndrome lead healthy and fulfilling lives.

Conditions that are X-linked recessive do not show transmission from male to male.

Understanding X-Linked Recessive Inheritance

X-linked recessive inheritance is a genetic pattern where only males are affected, except in rare cases such as Turner’s syndrome. This type of inheritance is transmitted by heterozygote females, who are carriers of the gene mutation. Male-to-male transmission is not observed in X-linked recessive disorders. Affected males can only have unaffected sons and carrier daughters.

If a female carrier has children, each male child has a 50% chance of being affected, while each female child has a 50% chance of being a carrier. It is important to note that the possibility of an affected father having children with a heterozygous female carrier is generally rare. However, in some Afro-Caribbean communities, G6PD deficiency is relatively common, and homozygous females with clinical manifestations of the enzyme defect are observed.

In summary, X-linked recessive inheritance is a genetic pattern that affects only males and is transmitted by female carriers. Understanding this pattern is crucial in predicting the likelihood of passing on genetic disorders to future generations.

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.

Snoring is not a symptom of Kallman’s syndrome, which is a condition that leads to delayed puberty due to hypogonadotrophic hypogonadism.

Snoring in Children: Possible Causes

Snoring in children can be caused by various factors. One of the common causes is obesity, which can lead to the narrowing of the airways and difficulty in breathing during sleep. Another possible cause is nasal problems such as polyps, deviated septum, and hypertrophic nasal turbinates, which can also obstruct the airways and cause snoring. Recurrent tonsillitis can also contribute to snoring, as the inflamed tonsils can block the air passages.

In some cases, snoring in children may be associated with certain medical conditions such as Down’s syndrome and hypothyroidism. These conditions can affect the structure and function of the respiratory system, leading to snoring and other breathing difficulties.

It is important to identify the underlying cause of snoring in children and seek appropriate treatment to prevent potential health complications. Parents should consult a healthcare professional if their child snores regularly or experiences other symptoms such as daytime sleepiness, difficulty concentrating, or behavioral problems.

Abdominal wall hernias occur when an organ or the fascia of an organ protrudes through the wall of the cavity that normally contains it. Risk factors for developing these hernias include obesity, ascites, increasing age, and surgical wounds. Symptoms of abdominal wall hernias include a palpable lump, cough impulse, pain, obstruction (more common in femoral hernias), and strangulation (which can compromise the bowel blood supply and lead to infarction). There are several types of abdominal wall hernias, including inguinal hernias (which account for 75% of cases and are more common in men), femoral hernias (more common in women and have a high risk of obstruction and strangulation), umbilical hernias (symmetrical bulge under the umbilicus), paraumbilical hernias (asymmetrical bulge), epigastric hernias (lump in the midline between umbilicus and xiphisternum), incisional hernias (which may occur after abdominal surgery), Spigelian hernias (rare and seen in older patients), obturator hernias (more common in females and can cause bowel obstruction), and Richter hernias (a rare type of hernia that can present with strangulation without symptoms of obstruction). In children, congenital inguinal hernias and infantile umbilical hernias are the most common types, with surgical repair recommended for the former and most resolving on their own for the latter.

The most frequent congenital cardiac abnormality found in individuals with Down’s syndrome is atrioventricular septal defects. This baby, who displays typical syndromic features of Down’s syndrome, was not diagnosed during pregnancy due to inadequate antenatal care in Somalia. In the first few weeks of life, dyspnoea, failure to thrive, poor weight gain, and cyanosis can be common presentations. Although Tetralogy of Fallot can occur in Down’s syndrome, it is not the most common. Ventricular and atrial septal defects can also occur, but they are not as prevalent and do not align with the severity of this baby’s symptoms.

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 possible diagnosis for a child experiencing hip pain, limp, and a recent infection could be transient synovitis.

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.

Understanding Genetic Conditions: Trisomy 18 (Edwards’ Syndrome)

Trisomy 18, also known as Edwards’ syndrome, is a genetic condition that results in a range of physical and developmental abnormalities. Neonates with trisomy 18 often present with neonatal hypotonia, apnoea, and seizures, as well as severe psychomotor and growth retardation. Other common features include microcephaly, microphthalmia, microstomia, micrognathia, clenched fingers, and rocker-bottom feet. Over 90% of individuals with trisomy 18 have cardiac defects, commonly ventricular septal defect (VSD), as well as anomalies in most organ systems. Unfortunately, many fetuses will die in utero, and neonates born with trisomy 18 have a 40% chance of survival to 1 month.

It is important to note that an Edwards’ syndrome diagnosis should be made in the prenatal period. Low levels of AFP (α-fetoprotein), estradiol, and hCG (human chorionic gonadotrophin) on triple test biochemistry are suggestive, and the diagnosis can be confirmed on ultrasonography.

Other genetic conditions, such as Pierre-Robin syndrome, Down’s syndrome, Fragile X syndrome, and Noonan’s syndrome, have their own distinct features and should be differentiated from trisomy 18. Understanding these conditions and their unique characteristics can aid in early diagnosis and appropriate management.

An ultrasound scan of the hips is recommended for all babies born in the breech position after 36 weeks of pregnancy, even if they are not born in the breech position. It is also necessary for babies born before 36 weeks in the breech position or those with a family history of hip problems in early life. This is to detect developmental dysplasia of the hip (DDH) early, which can be treated with a Pavlik harness before six months of age. Surgery may be required if non-operative treatment is not successful. An ultrasound scan should be performed before six weeks of age to ensure early diagnosis and treatment. If a baby is found to have an unstable hip joint during their newborn examination, they should have an ultrasound of the hip before two weeks of age. X-rays are not recommended for detecting DDH in infants, and ultrasound is the preferred imaging modality.

Management of Dehydration in Children with Gastroenteritis

Gastroenteritis is a common illness in children that can lead to dehydration if not managed properly. Oral rehydration solution (ORS) is the first-line treatment for children at increased risk of dehydration, including those who have vomited more than twice in the last 24 hours or have other risk factors such as age less than one year, low birth weight, or signs of malnutrition. However, if a child is clinically dehydrated and not responding to ORS, intravenous (IV) fluids may be necessary.

It is important to encourage fluid intake in children with gastroenteritis, but carbonated drinks and fruit juices should be avoided as they can worsen diarrhea. If a child is unable to drink, an NG tube may be considered, but ORS should be attempted first. A bolus of IV fluids is only indicated in cases of suspected or confirmed shock.

Overall, prompt recognition and management of dehydration in children with gastroenteritis can prevent serious complications and improve outcomes.

Neonatal Blood Spot Screening: Identifying Potential Health Risks in Newborns

Neonatal blood spot screening, also known as the Guthrie test or heel-prick test, is a routine procedure performed on newborns between 5-9 days of life. The test involves collecting a small sample of blood from the baby’s heel and analyzing it for potential health risks. Currently, there are nine conditions that are screened for, including congenital hypothyroidism, cystic fibrosis, sickle cell disease, phenylketonuria, medium chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), and homocystinuria (pyridoxine unresponsive) (HCU).

While a minimum of 10 mIU/ml is considered sufficient to provide protection against infection, it is recommended to attain anti-HBs levels exceeding 100 mIU/ml.

Interpreting hepatitis B serology is an important skill that is still tested in medical exams. It is crucial to keep in mind a few key points. The surface antigen (HBsAg) is the first marker to appear and triggers the production of anti-HBs. If HBsAg is present for more than six months, it indicates chronic disease, while its presence for one to six months implies acute disease. Anti-HBs indicates immunity, either through exposure or immunization, and is negative in chronic disease. Anti-HBc indicates previous or current infection, with IgM anti-HBc appearing during acute or recent hepatitis B infection and persisting IgG anti-HBc. HbeAg is a marker of infectivity and HBV replication.

To illustrate, if someone has been previously immunized, their anti-HBs will be positive, while all other markers will be negative. If they had hepatitis B more than six months ago but are not a carrier, their anti-HBc will be positive, and HBsAg will be negative. However, if they are now a carrier, both anti-HBc and HBsAg will be positive. If HBsAg is present, it indicates an ongoing infection, either acute or chronic if present for more than six months. On the other hand, anti-HBc indicates that the person has caught the virus, and it will be negative if they have been immunized.

The combination of retinal haemorrhages, subdural haematoma, and encephalopathy is known as the triad of symptoms associated with Shaken Baby Syndrome. The tearing of fragile bridging cerebral veins in infants is believed to be the cause of subdural haematomas, which are the most common and typical intracranial manifestation of this syndrome.

Understanding Shaken Baby Syndrome

Shaken baby syndrome is a condition that involves a combination of retinal haemorrhages, subdural haematoma, and encephalopathy. It occurs when a child between the ages of 0-5 years old is intentionally shaken. However, there is controversy among physicians regarding the mechanism of injury, making it difficult for courts to convict suspects of causing shaken baby syndrome to a child. This condition has made headlines due to the ongoing debate among medical professionals.

Shaken baby syndrome is a serious condition that can cause long-term damage to a child’s health. It is important to understand the signs and symptoms of this condition to ensure that children are protected from harm. While the controversy surrounding the diagnosis of shaken baby syndrome continues, it is crucial to prioritize the safety and well-being of children. By raising awareness and educating the public about this condition, we can work towards preventing it from occurring in the future.

First-Line Treatment for Constipation in Children: Macrogol (Movicol)

When a child is diagnosed with constipation and secondary causes have been ruled out, treatment can be initiated. The first-line treatment recommended by NICE is macrogol, which is available as Movicol Paediatric Plain or Movicol depending on the child’s age. The dose is escalated until regular and good consistency stools are achieved. However, it is important to check for faecal impaction before starting maintenance treatment. Suppositories and enemas should not be routinely used in primary care. If macrogol is not tolerated or if there is a particularly hard stool, a stool softener such as lactulose can be used. A stimulant laxative such as senna can also be used as an alternative to macrogol.

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.