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.

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

Managing Asthma in Children: NICE Guidelines

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

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

The patient requires a CT head scan within an hour of the accident, as per NICE guidelines. A basal skull fracture, which can be fatal, may be caused by high-impact mechanisms and can present with symptoms such as bruising behind the ear, bruising around the eyes, blood behind the eardrum, or cerebral spinal fluid rhinorrhoea. Optic-nerve entrapment may also occur if the fracture is displaced, leading to changes in vision. Patients are at an increased risk of developing meningitis. An MRI head is not the primary investigation of choice for acute clinically important brain injuries due to safety, logistic, and resource reasons. A lateral cervical spine X-ray may be required for a thorough assessment of the C-spine, but a CT head and neck would be easier to perform if imaging of the neck is necessary. A plain skull X-ray may be used for non-accidental brain injury in children to avoid high-dose radiation from a CT scan, but it should not be used to diagnose brain trauma without consulting a neuroscience unit. If red flags are present, a CT head is necessary to exclude severe intracranial pathology.

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.

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

Threadworm Infestation in Children

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

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

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

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

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

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

Once a child reaches the age of 16, they are considered competent to provide consent for treatment. In this case, the 16-year-old child can provide consent for the blood transfusion, but cannot refuse it. Therefore, the blood can be given as the child has provided consent. If the child were to refuse the treatment, the blood could still be given in their best interests without the consent of the child or their parents, using the Children Act 1989 and a High Court Order. However, in this particular case, such an order is not necessary. While some Jehovah witnesses may accept certain blood products, such as fresh frozen plasma or albumin, they may decline a complete blood transfusion. However, this is not appropriate in this situation. It may be advisable to contact the hospital liaison representative, but as the child is of age and understands the situation, they are able to provide consent for the treatment.

Understanding Consent in Children

The issue of consent in children can be complex and confusing. However, there are some general guidelines to follow. If a patient is under 16 years old, they may be able to consent to treatment if they are deemed competent. This is determined by the Fraser guidelines, which were previously known as Gillick competence. However, even if a child is competent, they cannot refuse treatment that is deemed to be in their best interest.

For patients between the ages of 16 and 18, it is generally assumed that they are competent to give consent to treatment. Patients who are 18 years or older can consent to or refuse treatment.

When it comes to providing contraceptives to patients under 16 years old, the Fraser Guidelines outline specific requirements that must be met. These include ensuring that the young person understands the advice given by the healthcare professional, cannot be persuaded to inform their parents, is likely to engage in sexual activity with or without treatment, and will suffer physical or mental health consequences without treatment. Ultimately, the young person’s best interests must be taken into account when deciding whether to provide contraceptive advice or treatment, with or without parental consent.

In summary, understanding consent in children requires careful consideration of age, competence, and best interests. The Fraser Guidelines provide a useful framework for healthcare professionals to follow when providing treatment and advice to young patients.

The egg ladder can be used to reintroduce egg in children with non-IgE mediated allergy, starting with baked egg in biscuits. Chlorpheniramine and adrenaline pen are not appropriate choices.

Identifying and Managing Food Allergies in Children and Young People

Food allergies in children and young people can be categorized into IgE-mediated and non-IgE-mediated allergies. It is important to note that food intolerance is not caused by immune system dysfunction and is not covered by the 2011 NICE guidelines. Symptoms of IgE-mediated allergies include skin reactions such as pruritus, erythema, urticaria, and angioedema, gastrointestinal symptoms like nausea, colicky abdominal pain, vomiting, and diarrhea, and respiratory symptoms such as nasal itching, sneezing, rhinorrhea, congestion, cough, chest tightness, wheezing, and shortness of breath. Non-IgE-mediated allergies may present with symptoms like gastro-oesophageal reflux disease, loose or frequent stools, blood and/or mucus in stools, abdominal pain, infantile colic, food refusal or aversion, constipation, perianal redness, pallor and tiredness, and faltering growth.

If the history suggests an IgE-mediated allergy, skin prick tests or blood tests for specific IgE antibodies to the suspected foods and likely co-allergens should be offered. On the other hand, if the history suggests a non-IgE-mediated allergy, the suspected allergen should be eliminated for 2-6 weeks and then reintroduced. It is recommended to consult a dietitian with appropriate competencies about nutritional adequacies, timings, and follow-up. By identifying and managing food allergies in children and young people, we can prevent severe allergic reactions and improve their quality of life.

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.

Transient tachypnoea of the newborn does not exhibit cyanosis or chest X-ray changes. Preterm deliveries are usually associated with surfactant deficiency.

Understanding Meconium Aspiration Syndrome

Meconium aspiration syndrome is a condition that affects newborns and causes respiratory distress due to the presence of meconium in the trachea. This condition typically occurs in the immediate neonatal period and is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. The severity of the respiratory distress can vary, but it can be quite severe in some cases.

There are several risk factors associated with meconium aspiration syndrome, including a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking, or substance abuse. These risk factors can increase the likelihood of a baby developing this condition. It is important for healthcare providers to be aware of these risk factors and to monitor newborns closely for signs of respiratory distress.

Overall, meconium aspiration syndrome is a serious condition that requires prompt medical attention. With proper management and treatment, however, most babies are able to recover fully and go on to lead healthy lives. By understanding the risk factors and symptoms associated with this condition, healthcare providers can help ensure that newborns receive the care they need to thrive.

Hypotonia in neonates can be caused by Down’s syndrome, but it is not the only cause. Down’s syndrome does not typically present with hyperreflexia or hypertonia, and it is not associated with spina bifida. While hyporeflexia may occur in some cases of Down’s syndrome, it is not the most common neurological presentation.

Understanding Hypotonia: Causes and Symptoms

Hypotonia, also known as floppiness, is a condition that can be caused by central nervous system disorders or nerve and muscle problems. It is characterized by a decrease in muscle tone, resulting in a lack of resistance to passive movement. In some cases, an acutely ill child may exhibit hypotonia during examination, while in others, it may be associated with encephalopathy in the newborn period, which is most likely caused by hypoxic ischaemic encephalopathy.

Central causes of hypotonia include Down’s syndrome, Prader-Willi syndrome, hypothyroidism, and cerebral palsy, which may precede the development of spasticity. On the other hand, neurological and muscular problems such as spinal muscular atrophy, spina bifida, Guillain-Barre syndrome, myasthenia gravis, muscular dystrophy, and myotonic dystrophy can also cause hypotonia.

It is important to note that hypotonia can be a symptom of an underlying condition and should be evaluated by a healthcare professional. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for those affected.

In March 2018, NICE released new guidelines for identifying and managing Attention Deficit Hyperactivity Disorder (ADHD). This condition can have a significant impact on a child’s life and can continue into adulthood, making accurate diagnosis and treatment crucial. According to DSM-V, ADHD is characterized by persistent features of inattention and/or hyperactivity/impulsivity, with an element of developmental delay. Children up to the age of 16 must exhibit six of these features, while those aged 17 or over must exhibit five. ADHD has a UK prevalence of 2.4%, with a higher incidence in boys than girls, and there may be a genetic component.

NICE recommends a holistic approach to treating ADHD that is not solely reliant on medication. After presentation, a ten-week observation period should be implemented to determine if symptoms change or resolve. If symptoms persist, referral to secondary care is necessary, typically to a paediatrician with a special interest in behavioural disorders or to the local Child and Adolescent Mental Health Service (CAMHS). A tailored plan of action should be developed, taking into account the patient’s needs and wants, as well as how their condition affects their lives.

Drug therapy should be considered a last resort and is only available to those aged 5 years or older. Parents of children with mild/moderate symptoms can benefit from attending education and training programmes. For those who do not respond or have severe symptoms, pharmacotherapy may be considered. Methylphenidate is the first-line treatment for children and should be given on a six-week trial basis. It is a CNS stimulant that primarily acts as a dopamine/norepinephrine reuptake inhibitor. Side effects include abdominal pain, nausea, and dyspepsia. Weight and height should be monitored every six months in children. If there is an inadequate response, lisdexamfetamine should be considered, followed by dexamfetamine if necessary. In adults, methylphenidate or lisdexamfetamine are the first-line options, with switching between drugs if no benefit is seen after a trial of the other. All of these drugs are potentially cardiotoxic, so a baseline ECG should be performed before starting treatment, and referral to a cardiologist should be made if there is any significant past medical history or family history, or any doubt or ambiguity.

As with most psychiatric conditions, a thorough history and clinical examination are essential, particularly given the overlap of ADHD with many other psychiatric and

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

Managing Asthma in Children: NICE Guidelines

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

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

The RCGP has previously provided feedback that doctors are required to have knowledge of emergency medication dosages, with a specific emphasis on suspected cases of meningococcal septicaemia.

Paediatric Drug Doses for Emergency Situations

When it comes to prescribing drugs for children in emergency situations, it is important to consult the current British National Formulary (BNF) beforehand. However, as a guide, the following doses can be used for intramuscular (IM) benzylpenicillin in suspected cases of meningococcal septicaemia in the community. For children under one year old, the dose is 300 mg. For children between one and ten years old, the dose is 600mg. For children over ten years old, the dose is 1200mg. It is important to note that these doses are only a guide and should be adjusted based on the individual child’s weight and medical history. Always consult with a healthcare professional before administering any medication to a child.

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.

Differential diagnosis of vomiting and poor weight gain in infants

Vomiting and poor weight gain are common symptoms in infants, but they can be caused by different conditions that require specific management. One possible cause is pyloric stenosis, which results from an enlarged muscle at the outlet of the stomach, leading to projectile vomiting, dehydration, and failure to thrive. Another possible cause is gastro-oesophageal reflux disease (GORD), which may also involve vomiting, but not projectile, and may respond to conservative measures such as frequent feeds and upright positioning, or medication such as Gaviscon® or proton pump inhibitors. Cow’s milk protein allergy is another potential cause, which may present with a range of symptoms, including vomiting, but not projectile, and may require an exclusion diet for the mother if breastfeeding. Gastroenteritis is a common cause of vomiting and diarrhoea in infants, but it usually resolves within a few days and does not cause an abdominal mass. Finally, volvulus is a rare but serious condition that involves a twisted bowel, leading to acute obstruction and ischaemia, which requires urgent surgical intervention. Therefore, a careful history, examination, and investigations, such as ultrasound or blood tests, may help to differentiate these conditions and guide appropriate treatment.

Medications for Urinary and Bowel Issues in Children

Overactive bladder and nocturnal enuresis are common urinary issues in children. Here are some medications that can be used to treat these conditions:

1. Oxybutynin: This medication relaxes the urinary smooth muscle and is used to treat overactive bladder in children over 5 years old.

2. Imipramine: A tricyclic antidepressant that is used as a second-line treatment for nocturnal enuresis.

3. Desmopressin: A vasopressin analogue that can be used to treat nocturnal enuresis in children.

4. Duloxetine: A serotonin and noradrenaline reuptake inhibitor (SNRI) used to treat stress urinary incontinence in women. It is not licensed for use in individuals under 18 years old.

In addition, loperamide is an opioid antimotility drug that can be used to treat diarrhoea caused by gastroenteritis or inflammatory bowel disease.

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

Aortic Stenosis in Children: Causes and Management

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

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

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

Measles: A Highly Infectious Viral Disease

Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

The child’s symptoms suggest that they may have gastro-oesophageal reflux disease (GORD), which is characterized by regurgitation of milk after feeds and crying due to abdominal pain. This can lead to failure to gain weight or even weight loss. Infantile colic is less likely as it would not cause these symptoms. Intussusception, a condition where part of the bowel invaginates into another, causing colicky abdominal pain, vomiting, and passing of redcurrant stools, requires immediate hospitalization. Pyloric stenosis, which presents with projectile vomiting, dehydration, and faltering growth, is less likely as the child does not have projectile vomiting. Volvulus, a complete twisting of an intestinal loop, could present with bilious vomiting, signs of shock, peritonitis, and blood per rectum, and typically occurs in the first year of life.

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

Coeliac Disease in Children: Causes, Symptoms, and Diagnosis

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

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

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

When a child has bronchiolitis, it is common for them to have a low-grade fever. However, if the child has a high fever (over 39°C) and/or persistently focal crackles, it may indicate a diagnosis of pneumonia.

Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

Kawasaki disease can lead to coronary artery aneurysms, which can be detected through an echocardiogram. To diagnose Kawasaki disease, the patient must have a fever for more than 5 days and at least 4 of the following symptoms: bilateral conjunctivitis, cervical lymphadenopathy, polymorphic rash, cracked lips/strawberry tongue, and oedema/desquamation of the hands/feet. This patient has a rash, conjunctivitis, mucosal involvement, and desquamation of the hands and feet, indicating Kawasaki disease. While cardiac magnetic resonance angiography is a non-invasive alternative to coronary angiography, it is not first-line due to its cost and limited availability. A chest x-ray may be considered to check for cardiomegaly, but it is not necessary as echocardiography can diagnose pericarditis or myocarditis without radiation. Coronary angiography is invasive and carries risks, so it is not first-line unless large coronary artery aneurysms are seen on echocardiography. A lumbar puncture is not necessary at this stage unless the patient displays symptoms of meningitis.

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.

Feeding intolerance, abdominal distension, and bloody stools are among the early signs of necrotising enterocolitis, which is a high risk for preterm babies. Gastroesophageal reflux disease (GORD) does not cause abdominal distension and bloody stools, while duodenal atresia typically presents with bilious vomiting within the first day of life and does not cause bloody stools. Although hospital-acquired infection is a possibility, given the clinical picture and preterm status, ruling out necrotising enterocolitis should be the priority.

Understanding Necrotising Enterocolitis

Necrotising enterocolitis is a serious condition that is responsible for a significant number of premature infant deaths. The condition is characterized by symptoms such as feeding intolerance, abdominal distension, and bloody stools. If left untreated, these symptoms can quickly progress to more severe symptoms such as abdominal discolouration, perforation, and peritonitis.

To diagnose necrotising enterocolitis, doctors often use abdominal x-rays. These x-rays can reveal a number of important indicators of the condition, including dilated bowel loops, bowel wall oedema, and intramural gas. Other signs that may be visible on an x-ray include portal venous gas, pneumoperitoneum resulting from perforation, and air both inside and outside of the bowel wall. In some cases, an x-ray may also reveal air outlining the falciform ligament, which is known as the football sign.

Overall, understanding the symptoms and diagnostic indicators of necrotising enterocolitis is crucial for early detection and treatment of this serious condition. By working closely with healthcare professionals and following recommended screening protocols, parents and caregivers can help ensure the best possible outcomes for premature infants at risk for this condition.

Breastfed infants may be susceptible to vitamin K deficiency, as breast milk lacks sufficient amounts of this nutrient. The baby in question is likely experiencing idiopathic vitamin K deficiency, with breastfeeding being the only known risk factor. It is possible that the baby did not receive a vitamin K injection at birth, as they were born in Ukraine. Gender, age, vaginal delivery, and birth order are not associated with an increased risk of vitamin K deficiency.

Haemorrhagic Disease of the Newborn: Causes and Prevention

Newborn babies have a relatively low level of vitamin K, which can lead to the development of haemorrhagic disease of the newborn (HDN). This condition occurs when the production of clotting factors is impaired, resulting in bleeding that can range from minor bruising to intracranial haemorrhages. Breast-fed babies are particularly at risk, as breast milk is a poor source of vitamin K. Additionally, the use of antiepileptic medication by the mother can increase the risk of HDN in the newborn.

To prevent HDN, all newborns in the UK are offered vitamin K supplementation. This can be administered either intramuscularly or orally. By providing newborns with adequate levels of vitamin K, the risk of HDN can be significantly reduced. It is important for parents and healthcare providers to be aware of the risk factors for HDN and to take steps to prevent this potentially serious condition.

The symptoms exhibited by the child indicate erythema infectiosum, which is caused by an infection with parvovirus B19. Most pregnant women have immunity to this virus and it typically does not pose a risk. However, in rare cases, infection during the first trimester has been associated with hydrops fetalis, which can lead to miscarriage.

Parvovirus B19: A Virus with Various Clinical Presentations

Parvovirus B19 is a DNA virus that can cause different clinical presentations. One of the most common is erythema infectiosum, also known as fifth disease or slapped-cheek syndrome. This illness may manifest as a mild feverish condition or a noticeable rash that appears after a few days. The rash is characterized by rose-red cheeks, which is why it is called slapped-cheek syndrome. It may spread to the rest of the body but rarely involves the palms and soles. The rash usually peaks after a week and then fades, but for some months afterwards, a warm bath, sunlight, heat, or fever may trigger a recurrence of the bright red cheeks and rash. Most children recover without specific treatment, and school exclusion is unnecessary as the child is not infectious once the rash emerges. However, in adults, the virus may cause acute arthritis.

Aside from erythema infectiosum, parvovirus B19 can also present as asymptomatic, pancytopenia in immunosuppressed patients, aplastic crises in sickle-cell disease, and hydrops fetalis. The virus suppresses erythropoiesis for about a week, so aplastic anemia is rare unless there is a chronic hemolytic anemia. In pregnant women, the virus can cross the placenta and cause severe anemia due to viral suppression of fetal erythropoiesis, which can lead to heart failure secondary to severe anemia and the accumulation of fluid in fetal serous cavities (e.g. ascites, pleural and pericardial effusions). This condition is treated with intrauterine blood transfusions.

It is important to note that the virus can affect an unborn baby in the first 20 weeks of pregnancy. If a woman is exposed early in pregnancy (before 20 weeks), she should seek prompt advice from her antenatal care provider as maternal IgM and IgG will need to be checked. The virus is spread by the respiratory route, and a person is infectious 3 to 5 days before the appearance of the rash. Children are no longer infectious once the rash appears, and there is no specific treatment. Therefore, the child need not be excluded from school as they are no longer infectious by the time the rash occurs.

The RCGP has previously provided feedback that doctors are required to have knowledge of emergency medication dosages, with a specific emphasis on suspected cases of meningococcal septicaemia.

Paediatric Drug Doses for Emergency Situations

When it comes to prescribing drugs for children in emergency situations, it is important to consult the current British National Formulary (BNF) beforehand. However, as a guide, the following doses can be used for intramuscular (IM) benzylpenicillin in suspected cases of meningococcal septicaemia in the community. For children under one year old, the dose is 300 mg. For children between one and ten years old, the dose is 600mg. For children over ten years old, the dose is 1200mg. It is important to note that these doses are only a guide and should be adjusted based on the individual child’s weight and medical history. Always consult with a healthcare professional before administering any medication to a child.

Referral to Hospital for Mastoiditis: Explanation and Recommendations

Mastoiditis is a serious complication of otitis media that requires prompt medical attention. In this condition, the infection spreads to the mastoid bone behind the ear, causing pain, swelling, and redness. If left untreated, mastoiditis can lead to life-threatening complications such as meningitis or intracranial abscess. Therefore, it is essential to refer patients with suspected mastoiditis to hospital for further assessment and treatment.

Diagnosis of mastoiditis is based on clinical examination, which may include a CT scan to evaluate the extent of the infection. Treatment typically involves intravenous antibiotics, such as ceftriaxone and metronidazole, administered in hospital. Oral antibiotics, such as flucloxacillin or amoxicillin, are not effective for mastoiditis and should not be prescribed in this condition.

Patients with mastoiditis may also experience systemic symptoms, such as fever, malaise, or headache. Therefore, it is important to monitor their condition closely and provide appropriate supportive care, such as pain relief or hydration.

In summary, referral to hospital is the recommended course of action for patients with suspected mastoiditis. This ensures timely and effective treatment, reduces the risk of complications, and improves outcomes for the patient.

Epstein’s pearl, a type of congenital cyst found in the mouth, typically does not require any treatment. These cysts are commonly found on the hard palate, but can also be mistaken for a tooth eruption when located on the gums. They usually resolve on their own within a few weeks. Neonatal teeth, on the other hand, are rare and not typically found on the hard palate. Bohn’s nodules are mucous gland cysts that are usually located on the buccal or lingual aspects of the alveolar ridges, and rarely on the palate. A congenital ranula is a papule or nodule that is firm and translucent, and is typically found on the anterior floor of the mouth, lateral to the lingual frenulum.

Understanding Epstein’s Pearl

Epstein’s pearl is a type of cyst that is present in the mouth from birth. It is commonly found on the hard palate, but can also be seen on the gums, which may be mistaken for a tooth eruption. The good news is that no treatment is usually required as these cysts tend to disappear on their own within a few weeks.

Eczema in Children: Symptoms and Management

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

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

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

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.

If the patient’s respiratory distress worsened or their feeding was impacted, they would be admitted. It is important to note that amoxicillin is not effective in treating bronchiolitis, but may be used for uncomplicated community-acquired pneumonia or acute otitis media. Dexamethasone is commonly used for croup, but this diagnosis is unlikely as the patient does not have a barking cough, hoarse voice, or inspiratory stridor. Inhaled racemic adrenaline is also used for croup. Nebulised salbutamol is not necessary for this patient as they are stable and require only supportive management.

Bronchiolitis is a condition where the bronchioles become inflamed, and it is most commonly caused by respiratory syncytial virus (RSV). This virus is responsible for 75-80% of cases, with other causes including mycoplasma and adenoviruses. Bronchiolitis is most prevalent in infants under one year old, with 90% of cases occurring in those aged 1-9 months. The condition is more serious in premature babies, those with congenital heart disease or cystic fibrosis. Symptoms include coryzal symptoms, dry cough, increasing breathlessness, and wheezing. Hospital admission is often necessary due to feeding difficulties associated with increasing dyspnoea.

Immediate referral is recommended if the child has apnoea, looks seriously unwell, has severe respiratory distress, central cyanosis, or persistent oxygen saturation of less than 92% when breathing air. Clinicians should consider referral if the child has a respiratory rate of over 60 breaths/minute, difficulty with breastfeeding or inadequate oral fluid intake, or clinical dehydration. Immunofluorescence of nasopharyngeal secretions may show RSV, and management is largely supportive. Humidified oxygen is given via a head box if oxygen saturations are persistently low, and nasogastric feeding may be necessary if children cannot take enough fluid/feed by mouth. Suction may also be used for excessive upper airway secretions. NICE released guidelines on bronchiolitis in 2015 for more information.

Cystic fibrosis is a genetic disorder that affects the lungs and is inherited in an autosomal recessive manner. In the United Kingdom, newborns are screened for cystic fibrosis on the sixth day of life using a dried blood spot collected on a Guthrie card.

Understanding Cystic Fibrosis and the Organisms that Affect Patients

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

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

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

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

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.

Pneumonia is a possible complication of measles, while subacute sclerosing panencephalitis may develop 5-10 years after the illness. Mumps infection may lead to pancreatitis and infertility.

Measles: A Highly Infectious Viral Disease

Measles is a viral disease caused by an RNA paramyxovirus. It is one of the most infectious known viruses and is spread through aerosol transmission. The disease has an incubation period of 10-14 days and is infective from the prodromal phase until four days after the rash starts. Measles is now rare in developed countries due to immunization programs, but outbreaks can occur when vaccination rates drop, such as during the MMR controversy of the early 2000s.

The disease is characterized by a prodromal phase, which includes irritability, conjunctivitis, fever, and Koplik spots. The latter typically develop before the rash and are white spots on the buccal mucosa. The rash starts behind the ears and then spreads to the whole body, becoming a discrete maculopapular rash that may become blotchy and confluent. Desquamation may occur after a week, typically sparing the palms and soles. Diarrhea occurs in around 10% of patients.

Measles is mainly managed through supportive care, and admission may be considered in immunosuppressed or pregnant patients. The disease is notifiable, and public health should be informed. Complications of measles include otitis media, pneumonia (the most common cause of death), encephalitis (typically occurring 1-2 weeks following the onset of the illness), subacute sclerosing panencephalitis (very rare, may present 5-10 years following the illness), febrile convulsions, keratoconjunctivitis, corneal ulceration, diarrhea, increased incidence of appendicitis, and myocarditis.

If an unimmunized child comes into contact with measles, MMR should be offered within 72 hours. Vaccine-induced measles antibody develops more rapidly than that following natural infection.

The McRoberts maneuver involves hyperflexing the legs.

Shoulder dystocia is a complication that can occur during vaginal delivery when the body of the fetus cannot be delivered after the head has already been delivered. This is usually due to the anterior shoulder of the fetus becoming stuck on the mother’s pubic bone. Shoulder dystocia can cause harm to both the mother and the fetus. Risk factors for shoulder dystocia include fetal macrosomia, high maternal body mass index, diabetes mellitus, and prolonged labor.

If shoulder dystocia is identified, it is important to call for senior help immediately. The McRoberts’ maneuver is often performed, which involves flexing and abducting the mother’s hips to increase the angle of the pelvis and facilitate delivery. An episiotomy may be performed to provide better access for internal maneuvers, but it will not relieve the bony obstruction. Symphysiotomy and the Zavanelli maneuver are not recommended as they can cause significant maternal morbidity. Oxytocin administration is not indicated for shoulder dystocia.

Complications of shoulder dystocia can include postpartum hemorrhage and perineal tears for the mother, and brachial plexus injury and neonatal death for the fetus. It is important to manage shoulder dystocia promptly and appropriately to minimize the risk of these complications.

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

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

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

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

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

Understanding Shaken Baby Syndrome

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

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

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

The Barlow manoeuvre is a technique used to try and dislocate a newborn’s femoral head. If successful, the Ortolani manoeuvre can then be used to relocate the dislocated femoral head. The Thomas test is not appropriate for neonates and is used to identify hip flexion contractures in older patients. The Denis Brown bar is an orthotic device used in conjunction with the Ponseti method to correct a fixed talipes.

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.

Differential Diagnosis for a Patient with Hypocellular Bone Marrow and Thrombocytopenia

Aplastic anaemia is a condition characterized by bone marrow failure, resulting in peripheral pancytopenia and bone-marrow hypoplasia. This leads to a deficiency in the production of red blood cells, causing anaemia, and a reduced production of white blood cells, leading to immunodeficiency. Patients may experience symptoms such as shortness of breath, lethargy, pallor, mouth ulcers, and increased frequency of infections. The reduced production of platelets causes easy bruising.

Idiopathic thrombocytopenic purpura (ITP) is a condition characterized by an isolated reduction in platelets with normal bone marrow, in the absence of another identifiable cause. Patients may present with abnormal bleeding and bruising, petechiae, and purpura.

Haemophilia A is an X-linked-recessive condition causing a deficiency in clotting factor VIII, leading to easy bruising, prolonged bleeding after injury, or spontaneous bleeding in severe cases.

Infectious mononucleosis is the result of Epstein–Barr virus infection, characterized by fever, pharyngitis, lymphadenopathy, and a macular or maculopapular rash.

Autoimmune neutropenia is associated with opportunistic infections, most commonly otitis media. However, this condition would not account for the thrombocytopenia observed in this patient.

Developmental dysplasia of the hip (DDH) is more likely to occur in newborns who were in a breech presentation during pregnancy, as well as those with a family history of hip problems in early life. To screen for DDH, ultrasound is performed at 6 weeks of age for infants with these risk factors. Additionally, infants who test positive for the Barlow or Ortolani test are also sent for a hip ultrasound to check for DDH.

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.

Caput succedaneum is a swollen area that typically appears over the presenting part and extends across suture lines. In this case, the diagnosis is caput succedaneum, which occurred after a traumatic delivery (ventouse). The mother should be informed that no intervention is necessary as the swelling will subside within a few days. It would be inappropriate to advise the mother that immediate medical or surgical intervention is required. Unlike cephalohaematoma, which takes months to resolve and does not cross suture lines, caput succedaneum resolves within a few days. Therefore, advising the mother that it will take a few months or years to resolve would be inaccurate.

Understanding Caput Succedaneum

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

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

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.

Puberty: Normal Changes in Males and Females

Puberty is a natural process that marks the transition from childhood to adulthood. In males, the first sign of puberty is testicular growth, which typically occurs around the age of 12. A testicular volume greater than 4 ml indicates the onset of puberty. The maximum height spurt for males occurs at the age of 14.

For females, the first sign of puberty is breast development, which typically occurs around the age of 11.5. The height spurt for females reaches its maximum early in puberty, at the age of 12, before menarche. Menarche, the onset of menstruation, typically occurs at the age of 13.

Following menarche, there is only a small increase of about 4% in height. It is important to note that normal changes in puberty may include gynaecomastia in boys, asymmetrical breast growth in girls, and diffuse enlargement of the thyroid gland. These changes are a natural part of the process and should not cause alarm. Understanding the normal changes that occur during puberty can help individuals navigate this important stage of development with confidence.

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

Understanding Headaches in Children

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

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

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

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

Diagnostic Tests for Duchenne Muscular Dystrophy and Wilson’s Disease

Duchenne muscular dystrophy (DMD) and Wilson’s disease are two conditions that can present with non-specific symptoms. Here, we discuss the diagnostic tests used to identify these conditions.

DMD is an X-linked recessive condition that predominantly affects males. Diagnosis is usually made by significantly elevated creatine kinase levels and genetic testing. Muscle biopsy may also be required. Symptoms usually present by age three and include delayed walking, muscle weakness, pseudohypertrophy of calf muscles, and learning difficulties. An MRI spine or head is not helpful in diagnosis as DMD is not caused by a central nervous system or spinal pathology.

Wilson’s disease often presents with signs of liver failure and non-specific symptoms such as tiredness, weight loss, and abdominal pain. Neurological symptoms such as tremors, loss of motor skills, and behavioural problems are more common in teenagers and adults. Diagnosis is made by measuring serum caeruloplasmin levels and genetic testing.

In summary, elevated creatine kinase levels and genetic testing are used to diagnose DMD, while serum caeruloplasmin levels and genetic testing are used to diagnose Wilson’s disease. MRI scans are not helpful in the diagnosis of either condition.

Kawasaki disease is characterized by a high fever that lasts for more than 5 days, along with red palms, desquamation, and a strawberry tongue. It is crucial to diagnose and treat this condition promptly to minimize the risk of cardiac complications. Without early treatment with IV immunoglobulins, up to 20% of patients may develop coronary artery aneurysms, which can result in heart attack and sudden death.

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.

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.

This child’s symptoms, including oliguria, peripheral edema, petechial bruising, and pallor, suggest the possibility of hemolytic uremic syndrome (HUS). HUS is often associated with diarrheal illnesses and is characterized by normocytic anemia, thrombocytopenia, and acute kidney injury. The most common cause of HUS is Shiga-toxin producing Escherichia coli, which can be contracted from undercooked meat, such as a chicken burger from a carnival. While Campylobacter jejuni is a common cause of acute diarrhea, it is not typically associated with HUS. Clostridium perfringens can cause acute diarrhea and vomiting but is not associated with HUS. Salmonella species can also cause diarrheal illnesses, but they are not a common cause of HUS. In this case, Escherichia coli is the most likely causative organism.

Understanding Haemolytic Uraemic Syndrome

Haemolytic uraemic syndrome (HUS) is a condition that primarily affects young children and is characterized by a triad of symptoms, including acute kidney injury, microangiopathic haemolytic anaemia, and thrombocytopenia. The majority of cases are secondary and caused by Shiga toxin-producing Escherichia coli (STEC) 0157:H7, also known as ‘verotoxigenic’ or ‘enterohaemorrhagic’. Other causes of HUS include pneumococcal infection, HIV, systemic lupus erythematosus, drugs, and cancer. Primary HUS, also known as ‘atypical’, is caused by complement dysregulation.

To diagnose HUS, doctors may perform a full blood count to check for microangiopathic hemolytic anaemia and thrombocytopenia. A fragmented blood film may also be done to look for schistocytes and helmet cells. Additionally, a stool culture may be performed to check for evidence of STEC infection, and PCR for Shiga toxins may be done.

Treatment for HUS is supportive and may include fluids, blood transfusion, and dialysis if required. Antibiotics are not recommended, despite the preceding diarrhoeal illness in many patients. Plasma exchange may be considered for severe cases of HUS not associated with diarrhoea, while eculizumab, a C5 inhibitor monoclonal antibody, has shown greater efficiency than plasma exchange alone in the treatment of adult atypical HUS.

Overall, understanding the causes, symptoms, and management of HUS is crucial for healthcare professionals to provide appropriate care for patients with this condition.

ITP is a possible diagnosis for a child who presents with petechiae and no fever, while HUS and meningitis are unlikely. HSP may also be considered, but the child in the question has not experienced other symptoms of HSP. Non-accidental injury should also be considered as a differential for any petechial rash. However, ITP is more likely as it is often preceded by a viral illness and presents with isolated thrombocytopenia, causing the classic petechial rash. Blood results are needed to confirm the diagnosis.

Understanding Immune Thrombocytopenia (ITP) in Children

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

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

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

Understanding Duchenne Muscular Dystrophy: A Brief Overview

Duchenne muscular dystrophy (DMD) is a genetic disorder that affects approximately 1 in 3500 males. It is caused by the absence of the dystrophin gene, which leads to progressive muscle weakness and wasting.

Symptoms of DMD typically appear in early childhood and include delayed motor milestones, difficulty running, hypertrophy of calf muscles, and weakness in the lower extremities. One classic sign of DMD is a positive Gowers’ sign, where a child uses their upper extremities to help themselves stand up from the floor by first rising to stand on their arms and knees, then walking their hands up their legs to stand upright.

It is important to note that DMD is an X-linked recessive disorder, meaning that it primarily affects males. Females can be carriers of the gene mutation but are typically asymptomatic.

While there is currently no cure for DMD, there are treatments available to manage symptoms and improve quality of life. Early diagnosis and intervention are crucial for maximizing outcomes and improving long-term prognosis.

Haemophilus influenzae type B is the cause of acute epiglottitis. Fortunately, this disease is now rare due to the inclusion of Hib in the childhood vaccination program since 1992. Hib can also lead to other severe infections like meningitis and septicaemia. Haemophilus influenzae type A is an uncommon illness. Staphylococcus aureus is known for causing skin infections like abscesses, respiratory infections such as sinusitis, and food poisoning. Streptococcus pneumoniae is a common cause of bronchitis, otitis media, and sinusitis.

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 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.

Children with cows milk protein allergy can use the milk ladder to reintroduce milk protein after they turn 6 months old.

To gradually introduce milk, the milk ladder starts with cooked or baked milk. The process begins with malted milk biscuits and then progresses in a step-by-step manner towards pasteurised milk.

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.

Causes of Hypothyroidism in Children

Hypothyroidism in children, also known as juvenile hypothyroidism, is most commonly caused by autoimmune thyroiditis. This occurs when the body’s immune system attacks the thyroid gland, leading to decreased production of thyroid hormones. However, there are other causes of hypothyroidism in children as well. For example, children who have undergone total-body irradiation as part of treatment for acute lymphoblastic leukemia may develop hypothyroidism as a side effect. Additionally, iodine deficiency is a common cause of hypothyroidism in children in developing countries. It is important for parents and healthcare providers to be aware of these potential causes in order to properly diagnose and treat hypothyroidism in children.

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

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

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

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

To ensure coverage for Listeria, it is recommended to administer IV amoxicillin along with cefotaxime when treating meningitis in children under 3 months of age.

Investigation and Management of Meningitis in Children

Meningitis is a serious condition that can affect children. When investigating meningitis, it is important to note any contraindications to lumbar puncture, such as signs of raised intracranial pressure, focal neurological signs, papilloedema, significant bulging of the fontanelle, disseminated intravascular coagulation, or signs of cerebral herniation. For patients with meningococcal septicaemia, a lumbar puncture is contraindicated, and blood cultures and PCR for meningococcus should be obtained instead.

The management of meningitis in children involves administering antibiotics, such as IV amoxicillin (or ampicillin) and IV cefotaxime for children under three months, and IV cefotaxime (or ceftriaxone) for children over three months. Steroids should be considered if the lumbar puncture reveals certain findings, such as purulent cerebrospinal fluid, a high white blood cell count, or bacteria on Gram stain. Fluids should be administered to treat shock, and cerebral monitoring should be conducted, including mechanical ventilation if necessary.

It is also important to notify public health authorities and administer antibiotic prophylaxis to contacts. Ciprofloxacin is now preferred over rifampicin for this purpose. Overall, prompt and appropriate management of meningitis in children is crucial for ensuring the best possible outcomes.

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.

Perthes’ disease is commonly seen in children aged between 4 and 8 years, as is the case with this untreated patient. The other age ranges mentioned are not typical for this condition.

Understanding Perthes’ Disease

Perthes’ disease is a degenerative condition that affects the hip joints of children, typically between the ages of 4-8 years. It is caused by a lack of blood supply to the femoral head, which leads to bone infarction and avascular necrosis. This condition is more common in boys, with around 10% of cases being bilateral. The symptoms of Perthes’ disease include hip pain, stiffness, reduced range of hip movement, and a limp. Early changes can be seen on an x-ray, such as widening of the joint space, while later changes include decreased femoral head size and flattening.

To diagnose Perthes’ disease, a plain x-ray is usually sufficient. However, if symptoms persist and the x-ray is normal, a technetium bone scan or magnetic resonance imaging may be necessary. If left untreated, Perthes’ disease can lead to complications such as osteoarthritis and premature fusion of the growth plates.

The severity of Perthes’ disease is classified using the Catterall staging system, which ranges from stage 1 (clinical and histological features only) to stage 4 (loss of acetabular integrity). Treatment options include keeping the femoral head within the acetabulum using a cast or braces, observation for children under 6 years old, and surgical management for older children with severe deformities. The prognosis for Perthes’ disease is generally good, with most cases resolving with conservative management. Early diagnosis is key to improving outcomes.

Understanding Infantile Seborrhoeic Dermatitis (Cradle Cap)

Infantile seborrhoeic dermatitis, commonly known as cradle cap, is a condition that typically affects infants between the second week of life and the sixth month. It presents as a yellow scaly/flaky rash on the scalp, but can also affect other areas such as the ears, neck, face, and napkin area. While the condition is not harmful, it can be unsightly and uncomfortable for the infant.

Management of cradle cap involves simple measures such as regular washing of the scalp with baby shampoo, softening of scales with baby oil or soaking the crusts overnight with white petroleum jelly, then shampooing in the morning. If these measures are not effective, topical imidazole cream can be used.

It is important to note that cradle cap is not a fungal infection, eczema, erythema toxicum neonatorum (ETN), or scalp psoriasis. These conditions have different presentations and require different management strategies. Understanding the differences between these conditions can help parents and caregivers provide appropriate care for their infants.

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.

Common Gastrointestinal Disorders in Toddlers

Intussusception is a common gastrointestinal disorder in toddlers, typically affecting those aged 9-12 months. Symptoms include slimy or jelly-like red stools, abdominal pain, and a palpable mass or fullness. Diagnosis is made through ultrasound imaging and treatment usually involves an enema, although surgery may be necessary in complicated cases.

Pyloric stenosis is another disorder that can occur in the first few weeks of a baby’s life. It causes forceful projectile vomiting immediately after feeds and is diagnosed through ultrasound imaging. Treatment involves surgery with a pyloromyotomy.

Campylobacter-related gastroenteritis is rare in toddlers, especially considering that they typically only consume baby food.

Colorectal cancer is almost unheard of in this age group.

Hirschsprung’s disease is a congenital disorder that causes bowel obstruction, resulting in vomiting and failure to pass stools. It is typically diagnosed through a rectal biopsy and treated with surgical removal of the affected part of the bowel.

If a child shows a preference for one hand before the age of 12 months, it may be a sign of cerebral palsy and should be addressed promptly. The appropriate course of action is to refer the child to a child development service for a comprehensive evaluation by a multidisciplinary team. Children with cerebral palsy typically receive specialized care from birth, but in some cases, the condition may be suspected in a primary care setting. According to NICE guidelines, delayed motor milestones such as not sitting by 8 months (adjusted for gestational age), not walking by 18 months (adjusted for gestational age), early asymmetry of hand function, and persistent toe-walking may indicate cerebral palsy. In this case, as the child is exhibiting hand preference before the age of 1 year and has a risk factor for cerebral palsy (low birth weight), an urgent referral is necessary. Other options are not appropriate and may delay diagnosis and treatment.

Common Developmental Problems and Possible Causes

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

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

Understanding 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.

Incomplete immunisation may be a concern for patients belonging to travelling communities with regards to acute epiglottitis caused by Haemophilus influenzae type B.

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 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.

Animal and Human Bites: Causes and Management

Animal and human bites are common injuries that can lead to infections caused by various microorganisms. Dogs and cats are the most common animals involved in bites, with Pasteurella multocida being the most commonly isolated organism. On the other hand, human bites can cause infections from both aerobic and anaerobic bacteria, including Streptococci spp., Staphylococcus aureus, Eikenella, Fusobacterium, and Prevotella.

To manage animal and human bites, it is important to cleanse the wound thoroughly. Puncture wounds should not be sutured closed unless there is a risk of cosmesis. The current recommendation for treatment is co-amoxiclav, but if the patient is allergic to penicillin, doxycycline and metronidazole are recommended. It is also important to consider the risk of viral infections such as HIV and hepatitis C in human bites.

In summary, animal and human bites can lead to infections caused by various microorganisms. Proper wound cleansing and appropriate antibiotic treatment are essential in managing these injuries. Additionally, healthcare providers should consider the risk of viral infections in human bites.

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).

According to the 2016 guidelines of the British Thoracic Society, children should be given a specific dose of steroids based on their age. For children under 2 years, the dose should be 10 mg of prednisolone, for those aged 2-5 years, it should be 20 mg, and for those over 5 years, it should be 30-40 mg. Children who are already taking maintenance steroid tablets should receive a maximum dose of 60 mg or 2 mg/kg of prednisolone. If a child vomits after taking the medication, the dose should be repeated, and if they are unable to retain the medication orally, intravenous steroids should be considered. The duration of treatment should be tailored to the number of days required for recovery, and a course of steroids exceeding 14 days does not require tapering.

Managing Acute Asthma Attacks in Children

When it comes to managing acute asthma attacks in children, it is important to assess the severity of the attack and take appropriate action. For children between the ages of 2 and 5, those with severe or life-threatening asthma should be immediately transferred to the hospital. For moderate attacks, children should have a SpO2 level above 92% and no clinical features of severe asthma. However, for severe attacks, children may have a SpO2 level below 92%, be too breathless to talk or feed, have a heart rate above 140/min, and use accessory neck muscles. For life-threatening attacks, children may have a SpO2 level below 92%, a silent chest, poor respiratory effort, agitation, altered consciousness, and cyanosis.

For children over the age of 5, it is recommended to attempt to measure PEF in all cases. For moderate attacks, children should have a SpO2 level above 92%, a PEF level above 50% best or predicted, and no clinical features of severe asthma. For severe attacks, children may have a SpO2 level below 92%, a PEF level between 33-50% best or predicted, and be unable to complete sentences in one breath or too breathless to talk or feed. For life-threatening attacks, children may have a SpO2 level below 92%, a PEF level below 33% best or predicted, a silent chest, poor respiratory effort, altered consciousness, and cyanosis.

For children with mild to moderate acute asthma, bronchodilator therapy should be given via a beta-2 agonist and spacer (or close-fitting mask for children under 3 years old). One puff should be given every 30-60 seconds up to a maximum of 10 puffs. If symptoms are not controlled, the beta-2 agonist should be repeated and the child should be referred to the hospital. Steroid therapy should also be given to all children with an asthma exacerbation for 3-5 days, with the usual prednisolone dose varying based on age and weight.

Transient synovitis, also known as irritable hip, is a common childhood condition that presents with sudden onset pain and limping. It is diagnosed by ruling out other possible causes and typically resolves on its own within 1-2 weeks. While trauma or non-accidental injury may be a factor, this would likely be revealed in the patient’s medical history. However, doctors should remain vigilant for signs of non-accidental injury. Although septic arthritis is a possibility, it is unlikely in cases where blood tests are normal. Slipped Upper Femoral Epiphysis (SUFE), which causes groin pain and a waddling gait, can be ruled out based on its characteristic x-ray findings.

Transient synovitis, also known as irritable hip, is a common cause of hip pain in children aged 3-8 years. It typically occurs following a recent viral infection and presents with symptoms such as groin or hip pain, limping or refusal to weight bear, and occasionally a low-grade fever. However, a high fever may indicate other serious conditions such as septic arthritis, which requires urgent specialist assessment. To exclude such diagnoses, NICE Clinical Knowledge Summaries recommend monitoring children in primary care with a presumptive diagnosis of transient synovitis, provided they are aged 3-9 years, well, afebrile, mobile but limping, and have had symptoms for less than 72 hours. Treatment for transient synovitis involves rest and analgesia, as the condition is self-limiting.

Understanding Growing Pains in Children

Growing pains are a common complaint among children aged 3-12 years. These pains are often attributed to ‘benign idiopathic nocturnal limb pains of childhood’ in rheumatology, as they are not necessarily related to growth. Boys and girls are equally affected by growing pains, which are characterized by intermittent pain in the legs with no obvious cause.

One of the key features of growing pains is that they are never present at the start of the day after the child has woken up. Additionally, there is no limp or limitation of physical activity, and the child is systemically well with normal physical examination and motor milestones. Symptoms may worsen after a day of vigorous activity.

Overall, growing pains are a benign condition that can be managed with reassurance and simple measures such as massage or heat application. However, it is important to rule out other potential causes of leg pain in children, especially if there are any worrying features present.

Management of Salmonella Infection in Children: Discharge Home with No Antibiotic Treatment

Salmonella infection is a common cause of gastroenteritis in children. The mainstay of treatment is oral rehydration for correction of dehydration and prevention of further fluid losses. Most children with salmonella infection do not need any specific treatment, and symptoms usually improve in a few days. Unless symptoms are severe, children with salmonella can usually be cared for at home. Infection with Salmonella spp. is a notifiable disease in the UK. Antibiotics should be considered in children with salmonella gastroenteritis who are aged < 6 months, malnourished or immunocompromised. However, in this case, the child is well hydrated and drinking as usual, and therefore, discharge home with no antibiotic treatment is the correct management approach.

The investigation of maternal deaths in the UK is carried out by the Confidential Enquiry into Maternal Deaths, which encompasses deaths occurring during pregnancy, labour, and up to six weeks after delivery. Post partum haemorrhage (PPH) is a leading cause of maternal mortality. A stillbirth is defined as the loss of a fetus after twenty weeks gestation, while any loss prior to this is classified as a miscarriage.

Perinatal Death Rates and Related Metrics

Perinatal mortality rate is a measure of stillbirths and early neonatal deaths within seven days per 1,000 births after 24 weeks of gestation. In the UK, this rate is around 6 per 1,000 births. This figure is usually broken down into 4 per 1,000 stillbirths and 2 per 1,000 early neonatal deaths.

Maternal mortality rate, on the other hand, is calculated by dividing the number of deaths during pregnancy, labor, and six weeks after delivery by the total number of maternities and multiplying the result by 1000. Meanwhile, the stillbirth rate is determined by dividing the number of babies born dead after 24 weeks by the total number of births (live and stillborn) and multiplying the result by 1000. Lastly, the neonatal death rate is computed by dividing the number of babies who died between 0-28 days by the total number of live births and multiplying the result by 1000.

These metrics are important in assessing the quality of perinatal care and identifying areas for improvement. By monitoring these rates, healthcare providers can work towards reducing perinatal deaths and improving maternal and neonatal outcomes.

It is recommended that premature babies receive their routine vaccinations based on their chronological age, without any adjustment for their gestational age. However, if a baby was born before 28 weeks of gestation, it is advisable to administer their initial immunizations while they are still in the hospital to minimize the risk of apnea.

Immunisation is the process of administering vaccines to protect individuals from infectious diseases. The Department of Health has provided guidance on the safe administration of vaccines in its publication ‘Immunisation against infectious disease’ in 2006. The guidance outlines general contraindications to immunisation, such as confirmed anaphylactic reactions to previous doses of a vaccine containing the same antigens or another component contained in the relevant vaccine. Vaccines should also be delayed in cases of febrile illness or intercurrent infection. Live vaccines should not be administered to pregnant women or individuals with immunosuppression.

Specific vaccines may have their own contraindications, such as deferring DTP vaccination in children with an evolving or unstable neurological condition. However, there are no contraindications to immunisation for individuals with asthma or eczema, a history of seizures (unless associated with fever), or a family history of autism. Additionally, previous natural infections with pertussis, measles, mumps, or rubella do not preclude immunisation. Other factors such as neurological conditions like Down’s or cerebral palsy, low birth weight or prematurity, and patients on replacement steroids (e.g. CAH) also do not contraindicate immunisation.

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

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

Understanding Gastro-Oesophageal Reflux in Children

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

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

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