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.

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

Understanding Croup: A Respiratory Infection in Infants and Toddlers

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

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

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

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

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

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

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

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

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

The child is experiencing life-threatening acute asthma, which is a medical emergency. This is defined as having any of the following features: SpO2 below 92%, peak expiratory flow below 33% of the best or predicted, silent chest, cyanosis, poor respiratory effort, hypotension, exhaustion, or confusion. Therefore, 999 should be called immediately. This is not moderate or mild acute asthma, nor is it acute severe asthma, as the child is showing signs of cyanosis. Acute severe asthma is defined as having any of the following: SpO2 between 33-50% of the best or predicted, inability to complete sentences in one breath or too breathless to talk or feed, heart rate above 125 beats/min (for ages over 5) or above 140 beats/min (for ages 1-5), or respiratory rate above 30 breaths/min (for ages over 5) or above 40 breaths/min (for ages 1-5).

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

In children, primary headache is most commonly caused by migraine.

Understanding Headaches in Children

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

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

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

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

Genetic Conditions and Their Phenotypic Features

Fragile X Syndrome, Down Syndrome, Edwards Syndrome, Noonan Syndrome, and Pierre-Robin Syndrome are genetic conditions that have distinct phenotypic features. Fragile X Syndrome is an X-linked form of learning disability and autism that mainly presents after puberty. Down Syndrome is characterized by brachycephaly, prominent epicanthal folds, and small nose and mouth with protruding tongue, among others, and is usually diagnosed at birth. Edwards Syndrome has a life expectancy of days to weeks and is characterized by neonatal hypotonia, apnea, and seizures. Noonan Syndrome is inherited in an autosomal-dominant pattern and is characterized by distinctive facial features, congenital heart defects, and skeletal malformations. Pierre-Robin Syndrome results in facial abnormalities, respiratory and feeding difficulties, and cleft palate. Understanding the phenotypic features of these genetic conditions is crucial for early diagnosis and management.

Diagnosing Glandular Fever: Understanding Symptoms and Differential Diagnosis

Glandular fever, also known as infectious mononucleosis, is a viral illness that can cause a range of symptoms, including fever, sore throat, fatigue, and swollen lymph nodes. One common symptom is the development of a maculopapular rash, which can be triggered by taking penicillin. However, it is important to consider other potential diagnoses and rule out conditions such as dermatitis herpetiformis, allergy to penicillin, herpes zoster, and streptococcal throat infection.

To confirm a diagnosis of glandular fever, healthcare providers may perform a full blood count to check for lymphocytosis and atypical lymphocytes. Epstein-Barr virus (EBV) serology may also be tested in certain cases. Treatment for glandular fever is primarily supportive, and patients are advised to avoid contact sports to reduce the risk of splenic rupture.

By understanding the symptoms and differential diagnosis of glandular fever, healthcare providers can accurately diagnose and manage this viral illness.

Prostaglandins can maintain the patency of a patent ductus arteriosus, which can be beneficial in cases of duct dependent cardiac lesions such as tetralogy of Fallot, Ebstein’s anomaly, pulmonary atresia, and pulmonary stenosis. These conditions may be diagnosed before birth or present with symptoms such as cyanosis, tachypnea, and weak peripheral pulses at birth. While surgery is often the definitive treatment, keeping the duct open with prostaglandins can provide time for appropriate management planning. Aspirin is not recommended for children due to the risk of Reyes syndrome, which can cause liver and brain edema and be fatal. Indomethacin and other medications may also be used to close the duct.

Patent ductus arteriosus is a type of congenital heart defect that is typically classified as ‘acyanotic’. However, if left untreated, it can eventually lead to late cyanosis in the lower extremities, which is known as differential cyanosis. This condition is caused by a connection between the pulmonary trunk and descending aorta that fails to close with the first breaths due to increased pulmonary flow that enhances prostaglandins clearance. Patent ductus arteriosus is more common in premature babies, those born at high altitude, or those whose mothers had rubella infection during the first trimester of pregnancy.

The features of patent ductus arteriosus include a left subclavicular thrill, a continuous ‘machinery’ murmur, a large volume, bounding, collapsing pulse, a wide pulse pressure, and a heaving apex beat. To manage this condition, indomethacin or ibuprofen is given to the neonate, which inhibits prostaglandin synthesis and closes the connection in the majority of cases. If patent ductus arteriosus is associated with another congenital heart defect that is amenable to surgery, then prostaglandin E1 is useful to keep the duct open until after surgical repair.

Neonatal Blood Spot Screening: Identifying Potential Health Risks in Newborns

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

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.

Understanding Septic Arthritis in Children

Septic arthritis is a condition that affects children and can lead to permanent joint damage and systemic infection if not treated promptly. It has an incidence of around 4-5 per 100,000 children and is more common in boys, with a M:F ratio of 2:1. The hip, knee, and ankle are the most commonly affected joints. Symptoms of septic arthritis include joint pain, limp, fever, and lethargy. Signs of the condition include a swollen and red joint, with minimal movement possible.

To diagnose septic arthritis, joint aspiration is necessary to culture the affected area. This will show a raised white blood cell count. Inflammatory markers in the blood will also be raised, and blood cultures will be taken. The Kocher criteria are used to diagnose septic arthritis and include a fever of over 38.5 degrees Celsius, non-weight bearing, raised erythrocyte sedimentation rate (ESR), and raised white cell count (WCC).

Understanding septic arthritis in children is crucial for prompt diagnosis and treatment to reduce the risk of permanent joint damage and systemic infection.

Pregnant women at 16-32 weeks are given the option to receive the pertussis vaccine.

Whooping Cough: Causes, Symptoms, Diagnosis, and Management

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

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

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

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

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

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

Managing Primary Enuresis in Children: Advice and Treatment Options

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

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

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

Managing Primary Enuresis in Children: Advice and Treatment Options

The 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.

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 chest compressions to ventilations ratio should be 15:2 when two trained staff members are present.

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.

When a condition has low genetic penetrance, it may not show many clinical signs or symptoms, and the patient may appear normal, despite having an abnormal genetic profile. This is because the severity of the phenotype is determined by the penetrance of the genotype. If the condition has high penetrance, the phenotype is more likely to be expressed, resulting in more signs and symptoms.

Autosomal Dominant Diseases: Characteristics and Complicating Factors

Autosomal dominant diseases are genetic disorders that are inherited from one parent who carries the abnormal gene. In these diseases, both homozygotes and heterozygotes manifest the disease, and both males and females can be affected. The disease is passed on to 50% of children, and it normally appears in every generation. The risk remains the same for each successive pregnancy.

However, there are complicating factors that can affect the expression of the disease. Non-penetrance is a phenomenon where an individual carries the abnormal gene but does not show any clinical signs or symptoms of the disease. For example, 40% of individuals with otosclerosis do not show any symptoms despite carrying the abnormal gene. Another complicating factor is spontaneous mutation, where a new mutation occurs in one of the gametes. This can result in the disease appearing in a child even if both parents do not carry the abnormal gene. For instance, 80% of individuals with achondroplasia have unaffected parents.

In summary, autosomal dominant diseases have distinct characteristics such as their inheritance pattern and the fact that affected individuals can pass on the disease. However, complicating factors such as non-penetrance and spontaneous mutation can affect the expression of the disease and make it more difficult to predict its occurrence.

The risk of Down’s syndrome is 1 in 1,000 at the age of 30, and this risk decreases by a factor of 3 for every 5 years.

Down’s Syndrome: Epidemiology and Genetics

Down’s syndrome is a genetic disorder that occurs when there is an extra copy of chromosome 21. The risk of having a child with Down’s syndrome increases with maternal age. At 20 years old, the risk is 1 in 1,500, but by 45 years old, the risk increases to 1 in 50 or greater. To remember this, one can start with a risk of 1/1,000 at 30 years old and divide the denominator by 3 for every extra 5 years of age.

There are three main types of Down’s syndrome: nondisjunction, Robertsonian translocation, and mosaicism. Nondisjunction accounts for 94% of cases and occurs when the chromosomes fail to separate properly during cell division. The risk of recurrence is 1 in 100 if the mother is under 35 years old. Robertsonian translocation occurs when part of chromosome 21 attaches to another chromosome, usually chromosome 14. This accounts for 5% of cases and has a higher risk of recurrence if the mother or father is a carrier. Mosaicism accounts for 1% of cases and occurs when there are two genetically different populations of cells in the body.

In summary, Down’s syndrome is a genetic disorder that is more common with increasing maternal age. The risk of recurrence depends on the type of Down’s syndrome and whether the parents are carriers. It is important for individuals to understand the genetics and epidemiology of Down’s syndrome to make informed decisions about family planning.

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

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