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.

A 16-year-old girl presents with symptoms of shortness of breath, chest pain, and fatigue. Upon examination, a heart murmur is detected in the aortic region, which is described as a crescendo-decrescendo murmur. The possible causes of this murmur are considered, including aortic stenosis, aortic valve calcification, rheumatic heart disease, and Tetralogy of Fallot. However, based on the patient’s age and symptoms, aortic stenosis is the most likely diagnosis.

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.

The initial management for duct dependent congenital heart disease involves maintaining the ductus arteriosus with prostaglandins. In neonates with transposition of the great arteries (TGA), prostaglandin E1 is given intravenously to ensure the ductus arteriosus remains open, as its closure can lead to circulatory failure and profound cyanosis. Prostaglandins work by dilating vascular smooth muscle, which maintains the patency of the ductus arteriosus. Administering prostaglandins after delivery is necessary as the prostaglandin-rich placenta is no longer present to keep the ductus arteriosus open. Adenosine is not indicated in this case, as the newborn’s issue is circulatory rather than related to cardiac electrical activity. If heart failure occurs, angiotensin-converting enzyme (ACE) inhibitors may be used, but prostaglandins should be the first-line treatment to prevent heart failure. Non-steroidal anti-inflammatory drugs (NSAIDs) should be avoided as they inhibit prostaglandin synthesis, leading to closure of the ductus arteriosus and likely death of the newborn. Prostaglandin E is the most potent type of prostaglandin responsible for maintaining ductus arteriosus patency, not prostaglandin F2.

Understanding Transposition of the Great Arteries

Transposition of the great arteries (TGA) is a type of congenital heart disease that results in a lack of oxygenated blood flow to the body. This condition occurs when the aorticopulmonary septum fails to spiral during septation, causing the aorta to leave the right ventricle and the pulmonary trunk to leave the left ventricle. Children born to diabetic mothers are at a higher risk of developing TGA.

The clinical features of TGA include cyanosis, tachypnea, a loud single S2 heart sound, and a prominent right ventricular impulse. Chest x-rays may show an egg-on-side appearance.

To manage TGA, it is important to maintain the ductus arteriosus with prostaglandins. Surgical correction is the definitive treatment for this condition. Understanding the basic anatomical changes and clinical features of TGA can help with early diagnosis and appropriate management.

Reassurance and advice can be provided to manage nocturnal enuresis in children under the age of 5 years.

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 Neonatal Gastrointestinal Disorders

There are several common gastrointestinal disorders that can affect newborns. These include pyloric stenosis, necrotising enterocolitis (NEC), congenital duodenal atresia, Hirschsprung’s disease, and tracheoesophageal fistula (TOF).

Pyloric stenosis is characterised by hypertrophy of the circular pyloric muscle, and typically presents with non-bilious, projectile vomiting in the third or fourth week of life. Constipation and dehydration may also occur, and biochemistry may show hypokalaemic metabolic alkalosis. Boys are more likely to be affected, especially if born into a family with affected girls.

NEC is a condition primarily seen in premature infants, where portions of the bowel undergo necrosis. Symptoms include bilious vomiting, distended abdomen, and bloody stools, with late signs including bowel perforation and multi-organ failure.

Congenital duodenal atresia is a congenital absence or complete closure of a portion of the lumen of the duodenum, and presents with bile-stained vomiting, abdominal distension, and inability to pass meconium.

Hirschsprung’s disease is characterised by the failure of ganglion cells to migrate into the hindgut, leading to functional intestinal obstruction. Symptoms include abdominal distension, bile-stained vomiting, and failure to pass meconium.

TOF refers to a communication between the trachea and oesophagus, usually associated with oesophageal atresia. Symptoms include choking, coughing, and cyanosis during feeding, excess mucus, and recurrent lower respiratory tract infections. Other congenital anomalies may also be present.

Overall, early recognition and management of these neonatal gastrointestinal disorders is crucial for optimal outcomes.

For children without a penicillin allergy, amoxicillin is the primary treatment for pneumonia according to the 2011 guidelines from the British Thoracic Society. If the initial treatment is ineffective, macrolides may be added. Macrolides are recommended if Mycoplasma or Chlamydia is suspected. Co-amoxiclav is suggested for pneumonia associated with influenza.

Pneumonia is a common illness in children, with S. pneumoniae being the most likely cause of bacterial pneumonia. The British Thoracic Society has published guidelines for the management of community acquired pneumonia in children. According to these guidelines, amoxicillin is the first-line treatment for all children with pneumonia. Macrolides may be added if there is no response to first-line therapy, or if mycoplasma or chlamydia is suspected. In cases of pneumonia associated with influenza, co-amoxiclav is recommended. It is important to follow these guidelines to ensure effective treatment and management of pneumonia in children.

Transient tachypnoea of the newborn can be identified through a chest x-ray which may reveal hyperinflation and fluid in the horizontal fissure. The appropriate management for this condition is observation and supportive care, including the administration of supplemental oxygen if necessary. Symptoms typically resolve on their own within a few days. The use of IV ceftriaxone, IV steroids, or urgent blood transfusion is not indicated in this case and therefore, incorrect.

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.

The neonate is displaying signs of heart failure, which may be caused by structural heart disease. Symptoms of heart failure in neonates include difficulty feeding, breathing problems, and an enlarged liver. Asthma is not typically diagnosed in this age group, and acute liver failure is rare and usually presents with growth issues and blood clotting problems. Viral wheezing is uncommon in neonates, and the poor feeding and weight loss suggest heart failure as the likely cause.

How Congenital Heart Disease Presents

Congenital heart disease can manifest in various ways. One of the earliest signs may be detected during the antenatal period when imaging of the heart is performed as part of the 18-20 week fetal anomaly scan. A murmur may also be detected during the routine newborn examination. Cyanosis, a bluish discoloration of the skin and mucous membranes, may also be present. In some cases, heart failure may occur, which can be characterized by poor feeding, shortness of breath, sweating, and hepatomegaly. It is important to be aware of these presentations in order to promptly diagnose and manage congenital heart disease.

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.

For mild croup, a single dose of oral dexamethasone (0.15 mg/kg) should be taken immediately, regardless of the severity. The severity of croup is determined by factors such as respiratory rate, respiratory distress, heart rate, O2 saturations, and exhaustion. Treatment for severe croup includes systemic dexamethasone and nebulized adrenaline (5ml of 1:1000), along with oxygen administration. Antibiotics should only be given if there is suspicion of an underlying bacterial infection. It is not recommended to perform an ENT exam due to the risk of an epiglottis diagnosis.

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.

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.

If a newborn lacks red reflex, it is important to consider the possibility of retinoblastoma. Other causes should also be evaluated, but urgent referral to an ophthalmologist for a comprehensive, dilated eye examination is necessary.

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.

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.

The latest NICE guidelines classify any infant under 3 months old with a temperature exceeding 38ºC as a ‘red’ feature, necessitating immediate referral to a paediatrician. While some seasoned GPs may opt not to adhere to this recommendation, it is crucial to stay informed about recent examination guidelines.

The NICE Feverish illness in children guidelines were introduced in 2007 and updated in 2013. These guidelines use a ‘traffic light’ system to assess the risk of children under 5 years old presenting with a fever. It is important to note that these guidelines only apply until a clinical diagnosis of the underlying condition has been made. When assessing a febrile child, their temperature, heart rate, respiratory rate, and capillary refill time should be recorded. Signs of dehydration should also be looked for. Measuring temperature should be done with an electronic thermometer in the axilla if the child is under 4 weeks old or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer.

The risk stratification table includes green for low risk, amber for intermediate risk, and red for high risk. If a child is categorized as green, they can be managed at home with appropriate care advice. If they are categorized as amber, parents should be provided with a safety net or referred to a pediatric specialist for further assessment. If a child is categorized as red, they should be urgently referred to a pediatric specialist. It is important to note that oral antibiotics should not be prescribed to children with fever without an apparent source, and a chest x-ray does not need to be routinely performed if a pneumonia is suspected but the child is not going to be referred to the hospital.

TOF is the primary reason for cyanotic congenital heart disease, which usually manifests at 1-2 months of age. While transposition of the great arteries is also a significant cause of this condition, it typically presents within the first 24 hours of life. Ventricular septal defect and atrioventricular septal defect are not associated with cyanotic congenital heart disease.

Understanding Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a congenital heart disease that results from the anterior malalignment of the aorticopulmonary septum. It is the most common cause of cyanotic congenital heart disease, and it typically presents at around 1-2 months, although it may not be detected until the baby is 6 months old. The condition is characterized by four features, including ventricular septal defect (VSD), right ventricular hypertrophy, right ventricular outflow tract obstruction, and overriding aorta. The severity of the right ventricular outflow tract obstruction determines the degree of cyanosis and clinical severity.

Other features of TOF include cyanosis, which may cause episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract. These spells are characterized by tachypnea and severe cyanosis that may occasionally result in loss of consciousness. They typically occur when an infant is upset, in pain, or has a fever, and they cause a right-to-left shunt. Additionally, TOF may cause an ejection systolic murmur due to pulmonary stenosis, and a right-sided aortic arch is seen in 25% of patients. Chest x-ray shows a ‘boot-shaped’ heart, while ECG shows right ventricular hypertrophy.

The management of TOF often involves surgical repair, which is usually undertaken in two parts. Cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm. However, it is important to note that at birth, transposition of the great arteries is the more common lesion as patients with TOF generally present at around 1-2 months. Understanding the features and management of TOF is crucial for healthcare professionals to provide appropriate care and treatment for affected infants.

Meningitis poses a higher risk to neonates, particularly those with low birth weight, prematurity, traumatic delivery, fetal hypoxia, and maternal peripartum infection. The initial symptoms are usually vague and may include elevated body temperature, respiratory distress, apnea, episodes of bradycardia, low blood pressure, difficulty feeding, irritability, and decreased activity.

Organisms causing meningitis in children

Meningitis is a serious condition that can affect children of all ages. The organisms that cause meningitis vary depending on the age of the child. In neonates up to 3 months old, Group B Streptococcus is the most common cause, which is usually acquired from the mother during birth. E. coli and other Gram-negative organisms, as well as Listeria monocytogenes, can also cause meningitis in this age group.

From 1 month to 6 years old, Neisseria meningitidis (meningococcus), Streptococcus pneumoniae (pneumococcus), and Haemophilus influenzae are the most common organisms that cause meningitis. In children over 6 years old, Neisseria meningitidis and Streptococcus pneumoniae are the most common causes.

It is important for parents to be aware of the signs and symptoms of meningitis, such as fever, headache, stiff neck, and sensitivity to light. If a child is showing these symptoms, they should be taken to a doctor immediately for evaluation and treatment. Early diagnosis and treatment can help prevent serious complications and improve outcomes.

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.

Understanding Obesity in Children

Childhood obesity is a complex issue that requires careful assessment and management. Unlike adults, defining obesity in children is more challenging as body mass index (BMI) varies with age. To accurately assess BMI, percentile charts are needed. According to recent guidelines by the National Institute for Health and Care Excellence (NICE), the UK 1990 BMI charts should be used to provide age- and gender-specific information.

NICE recommends tailored clinical intervention if BMI is at the 91st centile or above. If BMI is at the 98th centile or above, assessing for comorbidities is necessary. Lifestyle factors are the most common cause of obesity in childhood. However, other factors such as growth hormone deficiency, hypothyroidism, Down’s syndrome, Cushing’s syndrome, and Prader-Willi syndrome can also contribute to obesity in children.

Obesity in children can lead to various consequences, including orthopaedic problems such as slipped upper femoral epiphyses and Blount’s disease, musculoskeletal pains, psychological consequences like poor self-esteem and bullying, sleep apnoea, and benign intracranial hypertension. Moreover, obesity in childhood can increase the risk of developing type 2 diabetes mellitus, hypertension, and ischaemic heart disease in the long run. Therefore, it is crucial to identify and manage obesity in children to prevent these adverse outcomes.

Common Causes of Bowel Obstruction in Children

Bowel obstruction in children can be caused by various conditions, each with its own distinct features. Here are some of the most common causes:

1. Intussusception: This occurs when one segment of the bowel telescopes into another, leading to obstruction. It is most common in children aged 6-9 months and may be idiopathic or caused by a viral infection. Symptoms include bilious vomiting, distended abdomen, tinkling bowel sounds, and redcurrant jelly stools.

2. Congenital hypertrophic pyloric stenosis: This is a gastric outlet obstruction that typically presents at around 3 weeks of life. It is caused by hypertrophy of the pylorus and leads to non-bilious projectile vomiting and a palpable olive mass in the epigastric region. Treatment involves surgical excision.

3. Duodenal atresia: This is a type of bowel obstruction that only occurs in neonates. It results from failure of recanalization of the small bowel in early fetal life and presents with bilious vomiting, proximal stomach distension, and a double-bubble sign on X-ray. It is associated with Down’s syndrome.

4. Ileus: This is a condition in which the bowel becomes aperistaltic, leading to obstruction. It is common after abdominal surgery, electrolyte disturbances, or infection.

5. Meconium obstruction: This is a type of bowel obstruction that only occurs in newborns. It presents with failure to pass meconium, bilious vomiting, and abdominal distension. Diagnosis can be made prenatally or after birth with an abdominal X-ray showing dilated loops of the small intestine and a soap bubble appearance. Treatment involves radiographic contrast enema or surgery if enemas are unsuccessful.

In conclusion, bowel obstruction in children can have various causes, and prompt diagnosis and treatment are essential to prevent complications.

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.

If general advice has not been effective, an enuresis alarm is typically the initial treatment for nocturnal enuresis. It is not advisable to limit fluid intake. According to Clinical Knowledge Summaries, children should consume approximately eight drinks per day, evenly distributed throughout the day, with the last one consumed approximately one hour before bedtime.

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.

Exposed bowel in babies with gastroschisis leads to a considerable loss of fluid and heat, which can pose a serious risk to their lives. Unlike exomphalos, gastroschisis is not associated with cardiac and renal issues. Additionally, there is no correlation between gastroschisis and microcephaly or macrocephaly.

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.

Admission to the paediatric ward is necessary when a child presents with audible stridor at rest, which is a clear indication of croup. This condition is characterized by a barking cough, mild fever, and coryzal symptoms, and in moderate cases, suprasternal wall retraction may be observed. Discharging the patient with dexamethasone or antibiotics is not appropriate, as stridor at rest requires further observation. A single dose of oral dexamethasone should be administered to all children with croup, regardless of severity. Referral to ENT is not urgent and not necessary in this case.

Understanding Croup: A Respiratory Infection in Infants and Toddlers

Croup is a type of upper respiratory tract infection that commonly affects infants and toddlers. It is characterized by a barking cough, fever, and coryzal symptoms, and is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses are the most common cause of croup. The condition typically peaks between 6 months and 3 years of age, and is more prevalent during the autumn season.

The severity of croup can be graded based on the presence of symptoms such as stridor, cough, and respiratory distress. Mild cases may only have occasional barking cough and no audible stridor at rest, while severe cases may have frequent barking cough, prominent inspiratory stridor at rest, and marked sternal wall retractions. Children with moderate or severe croup, those under 6 months of age, or those with known upper airway abnormalities should be admitted to the hospital.

Diagnosis of croup is usually made based on clinical presentation, but a chest x-ray may show subglottic narrowing, commonly referred to as the steeple sign. Treatment for croup typically involves a single dose of oral dexamethasone or prednisolone, regardless of severity. In emergency situations, high-flow oxygen and nebulized adrenaline may be necessary.

Understanding croup is important for parents and healthcare providers alike, as prompt recognition and treatment can help prevent complications and improve outcomes for affected children.

Henoch-Schönlein Purpura: A Common Childhood Vasculitis

Henoch-Schönlein purpura (HSP) is a common vasculitis of childhood that affects small vessels. It typically occurs in children, with 50% of cases in under-5s. The exact cause of the immune-mediated vasculitis is unknown, but it commonly follows a viral or streptococcal upper respiratory tract infection (URTI). Classic features include a non-blanching rash (palpable purpura, usually of the lower limbs), abdominal pain, arthralgia, and renal involvement/glomerulonephritis.

Possible complications of HSP include glomerulonephritis and renal failure, gastrointestinal bleed/intussusception, and pulmonary hemorrhage. Treatment is usually supportive, and the condition is self-limiting in most patients.

Other conditions, such as intertrigo, meningococcal disease, slapped cheek disease, and systemic lupus erythematosus (SLE), may present with similar symptoms but have distinct differences. For example, intertrigo affects skinfolds, meningococcal disease presents with red flags such as fever and headache, slapped cheek disease has a facial rash that precedes a rash on the limbs, and SLE typically has vague and insidious systemic symptoms before skin changes.

Investigations for HSP include bloods, blood pressure monitoring, and urinalysis. Treatment usually involves observation and monitoring, with non-steroidal anti-inflammatory drugs used for pain relief and sometimes corticosteroids given.

In summary, HSP is a common childhood vasculitis that presents with a non-blanching rash, abdominal pain, arthralgia, and renal involvement. It often follows a recent illness such as an upper respiratory tract infection and is usually self-limiting. Other conditions may present with similar symptoms but have distinct differences.

Neonatal respiratory distress syndrome (NRDS) is a condition that primarily affects premature newborns due to a lack of surfactant. This deficiency causes an increase in alveolar surface tension, leading to reduced compliance and increased breathing effort. The production of surfactant in the fetus is aided by natural maternal glucocorticosteroids, and synthetic steroids are the first-line treatment for preventing NRDS in high-risk pregnancies. Tocolytics, which can delay preterm labor, are not typically used, but may be considered in certain cases to allow time for maternal steroids to take effect. While curosurf, continuous positive airway pressure, and extracorporeal membrane oxygenation can be effective treatments for NRDS, they are not used as preventative measures.

Surfactant Deficient Lung Disease in Premature Infants

Surfactant deficient lung disease (SDLD), previously known as hyaline membrane disease, is a condition that affects premature infants. It occurs due to the underproduction of surfactant and the immaturity of the lungs’ structure. The risk of SDLD decreases with gestation, with 50% of infants born at 26-28 weeks and 25% of infants born at 30-31 weeks being affected. Other risk factors include male sex, diabetic mothers, Caesarean section, and being the second born of premature twins.

The clinical features of SDLD are similar to those of respiratory distress in newborns, including tachypnea, intercostal recession, expiratory grunting, and cyanosis. Chest x-rays typically show a ground-glass appearance with an indistinct heart border.

Prevention during pregnancy involves administering maternal corticosteroids to induce fetal lung maturation. Management of SDLD includes oxygen therapy, assisted ventilation, and exogenous surfactant given via an endotracheal tube. With proper management, the prognosis for infants with SDLD is generally good.

The use of cephalosporins during breastfeeding is deemed to be safe.

Breastfeeding has some contraindications that are important to know, especially when it comes to drugs. Antibiotics like penicillins, cephalosporins, and trimethoprim are safe for breastfeeding mothers, as are endocrine drugs like glucocorticoids (in low doses) and levothyroxine. Epilepsy drugs like sodium valproate and carbamazepine, asthma drugs like salbutamol and theophyllines, and hypertension drugs like beta-blockers and hydralazine are also safe. Anticoagulants like warfarin and heparin, as well as digoxin, are also safe. However, some drugs should be avoided, such as antibiotics like ciprofloxacin, tetracycline, chloramphenicol, and sulphonamides, psychiatric drugs like lithium and benzodiazepines, aspirin, carbimazole, methotrexate, sulfonylureas, cytotoxic drugs, and amiodarone. Other contraindications include galactosaemia and viral infections, although the latter is controversial in the developing world due to the increased risk of infant mortality and morbidity associated with bottle feeding.

Understanding Dehydration in Children: Symptoms and Management

Dehydration is a common concern in children, especially when they are suffering from illnesses like gastroenteritis. It is important to recognize the different levels of dehydration and manage them accordingly.

Clinical dehydration is characterized by symptoms such as restlessness and decreased urine output. Signs of clinical dehydration include irritability, sunken eyes, dry mucous membranes, tachycardia, and normal capillary refill time (CRT).

Children with no clinically detectable dehydration do not show any signs or symptoms of dehydration and can be managed with oral fluids until the illness subsides.

Clinical shock is a severe form of dehydration that requires immediate medical attention. Symptoms of clinical shock include a decreased level of consciousness, pale or mottled skin, cold extremities, tachycardia, tachypnea, hypotension, weak peripheral pulses, and a prolonged CRT. Children with clinical shock require admission and rehydration with intravenous fluids and electrolyte supplementation.

A euvolemic child, on the other hand, has a normal general appearance, normal eyes, a moist tongue, and present tears. They have a normal CRT and are not tachycardic.

It is important to recognize the signs and symptoms of dehydration in children and manage it accordingly to prevent further complications. Fluid overload is also a concern, but in cases of gastroenteritis-induced dehydration, rehydration is necessary.

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.

The correct initial step for paediatric basic life support (BLS) is to give 5 rescue breaths immediately, even before checking for a pulse. This is because respiratory causes are the most common in children. Checking for a femoral pulse is not necessary to determine the need for chest compressions, as palpation of the pulse is not a reliable indicator of effective circulation. Giving 2 rescue breaths is incorrect for children, as they require 5 rescue breaths to mitigate hypoxia. The correct ratio of chest compressions to rescue breaths is 15:2, but the first step in paediatric BLS is always to give 5 rescue breaths.

Paediatric Basic Life Support Guidelines

Paediatric basic life support guidelines were updated in 2015 by the Resuscitation Council. Lay rescuers should use a compression:ventilation ratio of 30:2 for children under 1 year and between 1 year and puberty, a child is defined. If there are two or more rescuers, a ratio of 15:2 should be used.

The algorithm for paediatric basic life support starts with checking if the child is unresponsive and shouting for help. The airway should be opened, and breathing should be checked by looking, listening, and feeling for breaths. If the child is not breathing, five rescue breaths should be given, and signs of circulation should be checked.

For infants, the brachial or femoral pulse should be used, while children should use the femoral pulse. Chest compressions should be performed at a ratio of 15:2, with a rate of 100-120 compressions per minute for both infants and children. The depth of compressions should be at least one-third of the anterior-posterior dimension of the chest, which is approximately 4 cm for an infant and 5 cm for a child.

In children, the lower half of the sternum should be compressed, while in infants, a two-thumb encircling technique should be used for chest compressions. These guidelines are crucial for anyone who may need to perform basic life support on a child, and it is essential to follow them carefully to ensure the best possible outcome.

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.

Management of Infantile Pyloric Stenosis: Correction of Metabolic Derangements

Infantile pyloric stenosis is a common condition in newborns, characterized by a hypertrophied pylorus that causes projectile vomiting and hungry feeding. The electrolyte abnormality associated with this condition is hypokalaemic hypochloraemic alkalosis. Before undergoing surgery, it is crucial to correct these metabolic abnormalities in consultation with a pediatrician and anesthetist. Ramstedt’s pyloromyotomy is the definitive surgical treatment for infantile pyloric stenosis. Upper GI endoscopy is not necessary for diagnosis if the clinical presentation is clear. Feeding jejunostomy and total parenteral nutrition are not appropriate initial management options. During surgery, the umbilicus should be excluded from the operative field to prevent staphylococcus aureus infection.

It is common for newborns to have positional head molding, which is considered a normal occurrence. However, it is important to document this for review by the general practitioner during the six to eight week baby check. In cases where there is persistent head shape deformity, cranial orthosis (head helmets) may be used, but it is unlikely to be necessary. Physiotherapy can be considered if there is also torticollis. It is important to note that surgical intervention is not appropriate as this is a normal finding.

Common Skull Problems in Children

Two common skull problems in children are plagiocephaly and craniosynostosis. Plagiocephaly is when a child’s head becomes parallelogram-shaped due to flattening on one side. The incidence of plagiocephaly has increased over the past decade, which may be due to the success of the ‘Back to Sleep’ campaign that encourages parents to put their babies to sleep on their backs to reduce the risk of sudden infant death syndrome (SIDS). Craniosynostosis, on the other hand, is the premature fusion of skull bones. This can lead to abnormal head shape and potentially affect brain development. Both plagiocephaly and craniosynostosis require medical attention and treatment.

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.

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.

Types of Epilepsy: Characteristics and Differences

Epilepsy is a neurological disorder characterized by recurrent seizures. There are different types of epilepsy, each with its own set of clinical features and diagnostic criteria. Here are some of the most common types of epilepsy and their distinguishing characteristics:

Benign Rolandic Epilepsy (BRE)
BRE, also known as childhood epilepsy with centrotemporal spikes, is characterized by seizures that often occur during sleep or just before waking. Children may experience paraesthesia of their lips, tongue, or the inside of their mouth, which can interfere with speech and cause drooling. Twitching of one side of the mouth or face often develops, followed by twitching in the limbs on the same side. Seizures typically last less than two minutes, and the child remains conscious.

Absence Seizures
Absence seizures are a form of generalized epilepsy that impairs consciousness. Children are most commonly affected, and the seizures usually last only a few seconds but may occur many times a day. During the absence, the child stops activity and stares blankly, not responding to questions. There may be lip-smacking or facial tics. An EEG will reveal a characteristic spike-and-wave activity.

Temporal Lobe Epilepsy (TLE)
TLE is characterized by partial and/or focal seizures that may be simple or complex, with some loss of awareness. The clinical features of TLE reflect the function of the temporal lobe, primarily speech, taste, smell, and memory. Presentations may include déjà vu, gastrointestinal disturbance, amnesia during an attack, olfactory or gustatory hallucinations, and abnormal sensations crawling up the body. Repetitive vocalizations, automatism, and lip-smacking may be seen.

Juvenile Myoclonic Epilepsy (JME)
JME describes generalized epilepsy that impairs consciousness. JME usually presents in later childhood, with a peak onset at 10–16 years. The defining seizure is myoclonic and usually occurs in the first hour after waking. These seizures occur as sudden jerks, which commonly involve the arms and/or trunk. However, any muscle may be affected. The patient is generally conscious while myoclonic jerks are occurring. Generalized tonic-clonic seizures often accompany myoclonic seizures in JME, which may lead to reduced consciousness.

Infantile Spasms
Infantile spasms develop in the first year of life, with peak

Non IgE mediated cows milk protein allergy tends to resolve at a younger age compared to IgE mediated allergies in children.

The milk ladder is a common approach for introducing milk into the diet of children with cows milk protein allergy, with gradual steps starting from malted milk biscuits and progressing to chocolate and yoghurt.

It is not advisable to use Chlorpheniramine (piriton) as it can cause drowsiness in this age group. Additionally, an epipen is not necessary for non IgE mediated allergy.

Understanding Cow’s Milk Protein Intolerance/Allergy

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

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

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

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.

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.

DiGeorge’s syndrome, also known as 22q11.2 deletion syndrome, is caused by a small deletion on chromosome 22 and can result in a variety of features in different individuals. Common characteristics include cardiac defects such as tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, and ventricular septal defect, as well as cleft palate and distinct facial features. Pulmonary defects like tracheo-oesophageal fistula and laryngomalacia may also be present, along with a risk of recurrent infections due to defects in the T-cell-mediated immune response. Hypocalcaemia/hypoparathyroidism may be diagnosed after birth. Fetal alcohol syndrome, Prader-Willi syndrome, fetal valproate syndrome, and trisomy 13 are other conditions with distinct features that differ from those of DiGeorge’s syndrome.

DIC can cause haemorrhagic or thrombotic complications in cases of acute lymphoblastic leukaemia.

While a petechial rash can be a result of trauma, it is unlikely to be the case with this child given the other significant symptoms present. The non-blanching rash may initially suggest meningococcal disease, but the absence of fever and a clear source of infection makes this less likely. Additionally, the lesions associated with Henoch-Schonlein purpura typically appear on specific areas of the body and are accompanied by other symptoms such as haematuria or joint pain, which are not present in this case.

Acute lymphoblastic leukaemia (ALL) is a type of cancer that commonly affects children and accounts for 80% of childhood leukaemias. It is most prevalent in children between the ages of 2-5 years, with boys being slightly more affected than girls. Symptoms of ALL can be divided into those caused by bone marrow failure, such as anaemia, neutropaenia, and thrombocytopenia, and other features like bone pain, splenomegaly, and hepatomegaly. Fever is also present in up to 50% of new cases, which may indicate an infection or a constitutional symptom. Testicular swelling may also occur.

There are three types of ALL: common ALL, T-cell ALL, and B-cell ALL. Common ALL is the most common type, accounting for 75% of cases, and is characterized by the presence of CD10 and a pre-B phenotype. Poor prognostic factors for ALL include age less than 2 years or greater than 10 years, a white blood cell count greater than 20 * 109/l at diagnosis, T or B cell surface markers, non-Caucasian ethnicity, and male sex.

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.

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.

The majority of croup cases are caused by parainfluenza virus, and it is recommended to avoid throat examination as it may lead to airway obstruction.

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.

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

A possible diagnosis for an obese boy experiencing pain in the groin, thigh, and knee could be slipped upper femoral epiphysis (SUFE). This condition is rare and typically affects boys between the ages of 10-15 who are overweight. It causes the femoral head epiphysis to displace posteroinferiorly, resulting in pain in the hip, groin, and medial thigh, as well as limited internal rotation of the leg when flexed.

Juvenile idiopathic arthritis (JIA) is an incorrect diagnosis in this case, as it is characterized by joint inflammation lasting at least six weeks in children under 16 years old. The patient’s relatively short history of hip pain and being overweight make SUFE a more likely diagnosis.

Legg-Calvé-Perthe’s disease is also an incorrect diagnosis, as it involves necrosis of the femoral head and is typically seen in young boys aged 4-8 years. The patient’s painful hip movements and age make SUFE a more probable diagnosis.

Septic arthritis is another possible differential diagnosis, but it would be more likely if the patient presented with a fever and symptoms of systemic upset.

Slipped Capital Femoral Epiphysis: A Rare Hip Condition in Children

Slipped capital femoral epiphysis, also known as slipped upper femoral epiphysis, is a rare hip condition that primarily affects children between the ages of 10 and 15. It is more commonly seen in obese boys. This condition is characterized by the displacement of the femoral head epiphysis postero-inferiorly, which may present acutely following trauma or with chronic, persistent symptoms.

The most common symptoms of slipped capital femoral epiphysis include hip, groin, medial thigh, or knee pain and loss of internal rotation of the leg in flexion. In some cases, a bilateral slip may occur. Diagnostic imaging, such as AP and lateral (typically frog-leg) views, can confirm the diagnosis.

The management of slipped capital femoral epiphysis typically involves internal fixation, which involves placing a single cannulated screw in the center of the epiphysis. However, if left untreated, this condition can lead to complications such as osteoarthritis, avascular necrosis of the femoral head, chondrolysis, and leg length discrepancy.

In summary, slipped capital femoral epiphysis is a rare hip condition that primarily affects children, especially obese boys. It is characterized by the displacement of the femoral head epiphysis postero-inferiorly and can present with various symptoms. Early diagnosis and management are crucial to prevent complications.

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.

The absence of bilateral wheezing and presence of quiet breath sounds in a child with asthma is a concerning sign, as it may indicate a severe asthma attack that could be life-threatening.

Assessing Acute Asthma Attacks in Children

When assessing the severity of asthma attacks in children, the 2016 BTS/SIGN guidelines recommend using specific criteria. These criteria can help determine whether the attack is severe or life-threatening. For a severe attack, the child may have a SpO2 level below 92%, a PEF level between 33-50% of their best or predicted, and may be too breathless to talk or feed. Additionally, their heart rate may be over 125 (for children over 5 years old) or over 140 (for children between 1-5 years old), and their respiratory rate may be over 30 breaths per minute (for children over 5 years old) or over 40 (for children between 1-5 years old). They may also be using accessory neck muscles to breathe.

For a life-threatening attack, the child may have a SpO2 level below 92%, a PEF level below 33% of their best or predicted, and may have a silent chest, poor respiratory effort, agitation, altered consciousness, or cyanosis. It is important for healthcare professionals to be aware of these criteria and to take appropriate action to manage the child’s asthma attack. By following these guidelines, healthcare professionals can help ensure that children with asthma receive the appropriate care and treatment they need during an acute attack.

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.

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.

The correct answer is meconium ileus, as the baby is showing signs of abdominal distension and bilious vomiting within the first 24-48 hours of life, and has not passed any meconium. While meconium ileus is more common in children with cystic fibrosis, the baby is too young to have been diagnosed with this condition yet, as the heel prick test is normally done at day 5.

Duodenal atresia is less likely, as it typically presents in the first few hours of life and is often detected on antenatal scans, which were normal in this case.

Necrotizing enterocolitis is unlikely, as it typically affects preterm babies at a few weeks of life, whereas this baby was born at term and is only 2 days old.

Posseting, which is the act of bringing up small quantities of milk without pain or discomfort, is not associated with any pathology. However, in this scenario, the baby is vomiting green/yellow fluid, which is not typical of posseting. Therefore, posseting is an incorrect answer.

Causes and Treatments for Bilious Vomiting in Neonates

Bilious vomiting in neonates can be caused by various disorders, including duodenal atresia, malrotation with volvulus, jejunal/ileal atresia, meconium ileus, and necrotising enterocolitis. Duodenal atresia occurs in 1 in 5000 births and is more common in babies with Down syndrome. It typically presents a few hours after birth and can be diagnosed through an abdominal X-ray that shows a double bubble sign. Treatment involves duodenoduodenostomy. Malrotation with volvulus is usually caused by incomplete rotation during embryogenesis and presents between 3-7 days after birth. An upper GI contrast study or ultrasound can confirm the diagnosis, and treatment involves Ladd’s procedure. Jejunal/ileal atresia is caused by vascular insufficiency in utero and occurs in 1 in 3000 births. It presents within 24 hours of birth and can be diagnosed through an abdominal X-ray that shows air-fluid levels. Treatment involves laparotomy with primary resection and anastomosis. Meconium ileus occurs in 15-20% of babies with cystic fibrosis and presents in the first 24-48 hours of life with abdominal distension and bilious vomiting. Diagnosis involves an abdominal X-ray that shows air-fluid levels, and a sweat test can confirm cystic fibrosis. Treatment involves surgical decompression, and segmental resection may be necessary for serosal damage. Necrotising enterocolitis occurs in up to 2.4 per 1000 births, with increased risks in prematurity and inter-current illness. It typically presents in the second week of life and can be diagnosed through an abdominal X-ray that shows dilated bowel loops, pneumatosis, and portal venous air. Treatment involves conservative and supportive measures for non-perforated cases, while laparotomy and resection are necessary for perforated cases or ongoing clinical deterioration.

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.

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.

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.

According to the Green Book, it is recommended to have a 3-month gap between doses for optimal response rate. However, if the child is over 10 years old, a 1-month gap is sufficient. In case of an emergency, such as an outbreak at the child’s school, younger children can have a shorter gap of 1 month.

The MMR Vaccine: Information on Contraindications and Adverse Effects

The Measles, Mumps and Rubella (MMR) vaccine is given to children in the UK twice before they enter primary school. The first dose is administered at 12-15 months, while the second dose is given at 3-4 years old. This vaccine is part of the routine immunisation schedule.

However, there are certain contraindications to the MMR vaccine. Children with severe immunosuppression, allergies to neomycin, or those who have received another live vaccine by injection within four weeks should not receive the MMR vaccine. Pregnant women should also avoid getting vaccinated for at least one month following the MMR vaccine. Additionally, if a child has undergone immunoglobulin therapy within the past three months, there may be no immune response to the measles vaccine if antibodies are present.

While the MMR vaccine is generally safe, there are some adverse effects that may occur. After the first dose of the vaccine, some children may experience malaise, fever, and rash. These symptoms typically occur after 5-10 days and last for around 2-3 days. It is important to be aware of these potential side effects and to consult with a healthcare professional if any concerns arise.

The appearance of a scaphoid abdomen is a common presentation of congenital diaphragmatic hernia, which occurs when abdominal contents protrude into the chest cavity. This condition can cause breathing difficulties and rapid breathing in newborns. The characteristic auscultation findings are caused by underdeveloped lungs and compression due to the presence of abdominal organs in the chest. Immediate medical attention and respiratory support are necessary. It is important to note that this specific concave abdominal appearance is not seen in any other conditions mentioned.

Understanding Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a rare condition that affects approximately 1 in 2,000 newborns. It occurs when the diaphragm, a muscle that separates the chest and abdominal cavities, fails to form completely during fetal development. As a result, abdominal organs can move into the chest cavity, which can lead to underdeveloped lungs and high blood pressure in the lungs. This can cause respiratory distress shortly after birth.

The most common type of CDH is a left-sided posterolateral Bochdalek hernia, which accounts for about 85% of cases. This type of hernia occurs when the pleuroperitoneal canal, a structure that connects the chest and abdominal cavities during fetal development, fails to close properly.

Despite advances in medical treatment, only about 50% of newborns with CDH survive. Early diagnosis and prompt treatment are crucial for improving outcomes. Treatment may involve surgery to repair the diaphragm and move the abdominal organs back into their proper position. In some cases, a ventilator or extracorporeal membrane oxygenation (ECMO) may be necessary to support breathing until the lungs can function properly. Ongoing care and monitoring are also important to manage any long-term complications that may arise.

The answer, which is typically 7-8 months, differs slightly from the 6 months stated in the MRCPCH Development Guide.

Gross Motor Developmental Milestones

Gross motor skills refer to the ability to use large muscles in the body for activities such as crawling, walking, running, and jumping. These skills are essential for a child’s physical development and are achieved through a series of developmental milestones.
At 3 months, a baby should have little or no head lag when pulled to sit and should have good head control when lying on their abdomen. By 6 months, they should be able to lift and grasp their feet when lying on their back, pull themselves to a sitting position, and roll from front to back. At 9 months, they should be able to pull themselves to a standing position and crawl. By 12 months, they should be able to cruise and walk with one hand held. At 18 months, they should be able to walk unsupported and squat to pick up a toy. By 2 years, they should be able to run and walk up and down stairs holding onto a rail. At 3 years, they should be able to ride a tricycle using pedals and walk up stairs without holding onto a rail. By 4 years, they should be able to hop on one leg.

It is important to note that while the majority of children crawl on all fours before walking, some children may bottom-shuffle, which is a normal variant that runs in families. These milestones serve as a guide for parents and healthcare professionals to monitor a child’s physical development and identify any potential delays or concerns.

Transient tachypnoea of the newborn may be indicated by hyperinflation and fluid in the horizontal fissure on a chest x-ray. However, it is important to note that even if this condition is suspected, the baby should still be screened and treated for sepsis. This is because transient tachypnoea of the newborn is the most common cause of respiratory distress in neonates, but it typically resolves within 24-48 hours. Other conditions may present with different x-ray findings, such as ground glass appearance and low volume lungs in respiratory distress syndrome, or asymmetric patchy opacities in meconium aspiration syndrome. Additionally, a pneumothorax may be associated with mechanical ventilation but should be carefully evaluated in all chest x-rays.

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.

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.

Differentiating Sickle Cell Disease Complications: A Guide

Sickle cell disease is a genetic disorder that affects the shape of red blood cells, leading to a range of complications. Here is a guide to differentiating between some of the most common complications:

Splenic Sequestration Crisis: This occurs when sickled red blood cells become trapped in the spleen, leading to abdominal pain, splenomegaly, and signs of anemia. It is most common in children aged 5 months to 2 years and may be associated with infection. Treatment involves fluid resuscitation and transfusion, with splenectomy advised for recurrent cases.

Haemolytic Crisis: Chronic haemolysis is a feature of sickle cell disease, but worsening haemolysis may accompany acute deteriorations. This leads to a reduction in haemoglobin and an increase in unconjugated bilirubin. However, isolated haemolysis would not lead to abdominal pain and splenomegaly.

Aplastic Crisis: This is a temporary cessation of red blood cell production, often associated with parvovirus B19 infection. Patients present with fatigue, pallor, shortness of breath, and low reticulocyte counts.

Girdle Syndrome: This rare complication is characterised by an established ileus, with vomiting, distended abdomen, and absent bowel sounds. It is often associated with bilateral basal lung consolidation, but this patient does not exhibit these features.

Painful Crisis: This is the most common reason for hospital admission in sickle cell disease patients. It is characterised by recurrent attacks of acute severe pain, triggered by sickling and vaso-occlusion. Splenomegaly is not a feature of painful crisis.

Diagnostic Tests for Coeliac Disease

Coeliac disease is a condition that affects the small intestine and is caused by an intolerance to gluten. There are several diagnostic tests that can be performed to confirm a diagnosis of coeliac disease.

Initial Blood Tests
The initial blood tests for coeliac disease are immunoglobulin A (IgA) tissue transglutaminase antibody (tTG) and total IgA. Total IgA is tested because IgA deficiency is associated with coeliac disease and can cause a false-negative tTG-IgA. It is important for patients to be eating a diet containing gluten when they have the blood test to avoid a false-negative result.

Endoscopy and Duodenal Biopsy
An endoscopy with a duodenal biopsy may be required to confirm the diagnosis in secondary care. However, guidelines state that children may be diagnosed without a biopsy if they have tTG-IgA levels over ten times the upper limit of normal and positive endomysial antibodies (EMA-IgA) in a second blood test.

HLA-DQ2 and HLA-DQ8 Blood Tests
HLA-DQ2 and HLA-DQ8 are associated with coeliac disease. This blood test may be performed in secondary care but is not an initial investigation.

C13 Urea Breath Test
The C13 urea breath test is used in the diagnosis of Helicobacter pylori and has no role in the diagnosis of coeliac disease.

In conclusion, a combination of blood tests and endoscopy with a duodenal biopsy may be required to confirm a diagnosis of coeliac disease. It is important for patients to continue eating a gluten-containing diet before undergoing diagnostic tests.

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.

Noonan syndrome is diagnosed in a young boy who exhibits a webbed neck, pulmonary stenosis, ptosis, and short stature, despite having a normal karyotype.

Childhood syndromes are a group of medical conditions that affect children and are characterized by a set of common features. Patau syndrome, also known as trisomy 13, is a syndrome that is characterized by microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions. Edward’s syndrome, also known as trisomy 18, is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. Fragile X syndrome is characterized by learning difficulties, macrocephaly, long face, large ears, and macro-orchidism. Noonan syndrome is characterized by a webbed neck, pectus excavatum, short stature, and pulmonary stenosis. Pierre-Robin syndrome is characterized by micrognathia, posterior displacement of the tongue, and cleft palate. Prader-Willi syndrome is characterized by hypotonia, hypogonadism, and obesity. William’s syndrome is characterized by short stature, learning difficulties, friendly, extrovert personality, and transient neonatal hypercalcaemia. Cri du chat syndrome, also known as chromosome 5p deletion syndrome, is characterized by a characteristic cry, feeding difficulties and poor weight gain, learning difficulties, microcephaly and micrognathism, and hypertelorism. It is important to note that Treacher-Collins syndrome is similar to Pierre-Robin syndrome, but it is autosomal dominant and usually has a family history of similar problems.

Distinguishing between respiratory illnesses in children: A guide

When a child presents with respiratory symptoms, it can be difficult to determine the underlying cause. Here, we will discuss the key features of several common respiratory illnesses in children and how to differentiate between them.

Bronchiolitis is characterized by coryzal symptoms followed by a persistent cough, tachypnea, chest recession, and wheezing or crepitations on auscultation. A low-grade fever and reduced feeding may also be present.

Croup is a viral upper airway infection that causes a barking cough, predominantly inspiratory stridor, hoarse voice, intercostal or sternal indrawing, fever, and coryzal symptoms.

Asthma typically presents with shortness of breath, cough, wheeze, and chest tightness, and is more common in children over two years old.

Acute epiglottitis is an insidious but rapidly progressive airway emergency that causes fever, sore throat, odynophagia, muffled voice, dysphagia, dyspnea, respiratory distress, dysphonia, and stridor. The child may sit in a tripod position to maximize airway opening.

A viral upper respiratory tract infection may cause coryzal symptoms, cough, and fever, but crepitations on auscultation would not be expected.

By understanding the key features of these respiratory illnesses, healthcare providers can make a more accurate diagnosis and provide appropriate treatment.

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.

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.

Managing Acute Asthma Exacerbations in Children: Treatment Options and Guidelines

When a child experiences an acute asthma exacerbation, prompt and appropriate management is crucial to prevent further complications. Here are some treatment options and guidelines to consider:

Inpatient Management with Nebuliser Salbutamol and Oral Steroids
For severe asthma exacerbations, hospital transfer is necessary. Inpatient management should include nebulised bronchodilators in combination with early oral steroids. A 3-day steroid course is usually sufficient.

Manage as Outpatient with Inhaled Salbutamol via Spacer
Mild to moderate acute asthma can be managed with salbutamol via a spacer. Oral steroids should be considered in all children with an acute exacerbation of asthma. However, all children with features of severe or life-threatening asthma should be transferred to a hospital.

Outpatient Management with Antibiotics
Antibiotics would be inappropriate for acute asthma exacerbations unless there are clues in the history to suggest a bacterial infection as the cause of exacerbation.

Continue Current Medications with No Changes
In severe acute asthma, urgent treatment with nebulisers and transfer to a hospital is necessary.

IV Salbutamol
IV salbutamol is second line and considered only if the symptoms have responded poorly to nebulised therapy.

British Thoracic Society (BTS)/Scottish Intercollegiate Guidelines Network (SIGN) guidance suggests that all children with features of severe or life-threatening asthma should be transferred to a hospital. The severity of acute asthma in children over 5 can be determined using the BTS severity scoring.

By following these guidelines and treatment options, healthcare professionals can effectively manage acute asthma exacerbations in children and prevent further complications.

Fragile X is a condition characterized by learning difficulties, macrocephaly, large ears, and macro-orchidism in young boys.

Childhood syndromes are a group of medical conditions that affect children and are characterized by a set of common features. Patau syndrome, also known as trisomy 13, is a syndrome that is characterized by microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions. Edward’s syndrome, also known as trisomy 18, is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. Fragile X syndrome is characterized by learning difficulties, macrocephaly, long face, large ears, and macro-orchidism. Noonan syndrome is characterized by a webbed neck, pectus excavatum, short stature, and pulmonary stenosis. Pierre-Robin syndrome is characterized by micrognathia, posterior displacement of the tongue, and cleft palate. Prader-Willi syndrome is characterized by hypotonia, hypogonadism, and obesity. William’s syndrome is characterized by short stature, learning difficulties, friendly, extrovert personality, and transient neonatal hypercalcaemia. Cri du chat syndrome, also known as chromosome 5p deletion syndrome, is characterized by a characteristic cry, feeding difficulties and poor weight gain, learning difficulties, microcephaly and micrognathism, and hypertelorism. It is important to note that Treacher-Collins syndrome is similar to Pierre-Robin syndrome, but it is autosomal dominant and usually has a family history of similar problems.

For children between the ages of 5 and 16 who have asthma that is not being controlled by a combination of a short-acting beta agonist (SABA) and a low-dose inhaled corticosteroid (ICS), it is recommended to add a leukotriene receptor antagonist to their asthma management plan.

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.

Gross Motor Developmental Milestones

Gross motor skills refer to the ability to use large muscles in the body for activities such as crawling, walking, running, and jumping. These skills are essential for a child’s physical development and are achieved through a series of developmental milestones.
At 3 months, a baby should have little or no head lag when pulled to sit and should have good head control when lying on their abdomen. By 6 months, they should be able to lift and grasp their feet when lying on their back, pull themselves to a sitting position, and roll from front to back. At 9 months, they should be able to pull themselves to a standing position and crawl. By 12 months, they should be able to cruise and walk with one hand held. At 18 months, they should be able to walk unsupported and squat to pick up a toy. By 2 years, they should be able to run and walk up and down stairs holding onto a rail. At 3 years, they should be able to ride a tricycle using pedals and walk up stairs without holding onto a rail. By 4 years, they should be able to hop on one leg.

It is important to note that while the majority of children crawl on all fours before walking, some children may bottom-shuffle, which is a normal variant that runs in families. These milestones serve as a guide for parents and healthcare professionals to monitor a child’s physical development and identify any potential delays or concerns.

Azithromycin or clarithromycin are recommended as first-line antibiotics for non-pregnant adults with whooping cough if the cough onset is within 21 days. Erythromycin can be used for pregnant adults. Co-amoxiclav and doxycycline are not recommended, and co-trimoxazole can be used off-label if macrolides are contraindicated or not tolerated. Antibiotics are preferred over supportive treatment within 21 days of presentation.

Whooping Cough: Causes, Symptoms, Diagnosis, and Management

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

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

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

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

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

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

Understanding Autosomal Recessive Inheritance

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

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

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

In the majority of regions in the UK, pure tone audiometry is conducted when children start school. Newborns and infants undergo an Auditory Brainstem Response test if the otoacoustic emission test yields abnormal results. The newborn hearing screening programme includes an otoacoustic emission test. Health visitors perform a distraction test on infants between 6-9 months old. A speech discrimination test is administered after children reach 2.5 years of age.

Hearing Tests for Children

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

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

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

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.

Differential Diagnosis of Seizures in Children: A Case Study

A child presents with a seizure following a fever. The differential diagnosis includes febrile convulsion, myoclonic epilepsy, bacterial meningitis, viral encephalitis, and generalised epilepsy syndrome. However, the absence of intracranial infection and other neurological features suggests that febrile convulsion is the most likely diagnosis. Febrile convulsions are common in children aged 3 months to 5 years and are associated with viral illnesses. They are generalised, last less than 15 minutes, and do not recur within 24 hours. Children with febrile seizures have no increased mortality risk but may have a slightly increased risk of epilepsy in later life. Other possible causes of seizures, such as breath-holding attacks or reflex anoxic seizures, should also be considered. Education on managing fevers and keeping the child comfortable during illnesses should be provided to the family.

Management of Acute Epiglottitis

Acute epiglottitis is a medical emergency that requires prompt management to prevent airway obstruction. It is caused by inflammation of the epiglottis and is most common in children. Symptoms include fever, sore throat, difficulty swallowing, and respiratory distress. The most severe cases can lead to complete airway obstruction, which can be fatal.

The most important initial step in management is to call for an anaesthetist to intubate the child. Attempting to administer treatment via a facemask or examining the child’s throat can cause distress and increase the risk of complete airway obstruction. The anaesthetist should be present during any examination or treatment to ensure the safety of the child.

In summary, acute epiglottitis is a medical emergency that requires prompt management to prevent airway obstruction. Calling for an anaesthetist to intubate the child is the most important initial step in management. Any examination or treatment should be done with the anaesthetist present to ensure the safety of the child.

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.

The Ortolani manoeuvre was performed on a newborn to relocate the femoral head after dislocation caused by the Barlow manoeuvre. The result was abnormal, indicating a need for urgent assessment to check for potential developmental dysplasia of the hip. The best imaging option is ultrasound, which avoids radiation and provides optimal visualization of the hip’s development. Referring the child for routine assessment would cause unnecessary delay in treatment, and providing reassurance would be inappropriate given the abnormal screening result.

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

If a baby was in a breech presentation, it is important to ensure that they have been referred for screening for developmental dysplasia of the hip (DDH) as it is a risk factor for this condition. The Department of Health recommends that all babies who were breech at any point from 36 weeks (even if not breech at birth), babies born before 36 weeks who were in a breech presentation, and all babies with a first degree relative who had a hip problem in early life, should undergo ultrasound screening for hip dysplasia. If one twin was breech, both should be screened. Some hospitals also refer babies with other conditions such as oligohydramnios, high birth weight, torticollis, congenital talipes calcaneovalgus, and metatarsus adductus for screening. For more information on screening for DDH, please refer to the link provided.

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

The probable diagnosis is pyloric stenosis.

Understanding Pyloric Stenosis

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

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

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

If the mother is not a carrier of the X-linked recessive condition, so there is no risk of future children developing haemophilia. However, any daughters the father has will be carriers. Male-to-male transmission is not possible, and affected males can only have unaffected sons and carrier daughters.

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.