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.

A newborn has micrognathia, low-set ears, rocker bottom feet, and overlapping fingers, which are indicative of Edwards Syndrome. This condition, also known as Trisomy 18, is the second most common trisomy after Down Syndrome. Unfortunately, the outcome for infants with Edwards Syndrome is poor, with many dying in-utero and few surviving beyond one week. There are several ultrasound markers that suggest Edwards Syndrome, including cardiac malformations, choroid plexus cysts, neural tube defects, abnormal hand and feet position, exomphalos, growth restriction, single umbilical artery, polyhydramnios, and small placenta. While these markers are not specific to Edwards Syndrome, they increase the likelihood of diagnosis when present together. To confirm the diagnosis, karyotype analysis of placental or amniotic fluid should be performed with patient consent. Infections such as rubella, cytomegalovirus, and varicella zoster should also be considered in the differential diagnosis of multiple fetal abnormalities, and maternal viral serology may be helpful in diagnosis.

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

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.

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

Congenital heart disease can be categorized into two types: acyanotic and cyanotic. Acyanotic heart diseases are more common and include ventricular septal defects (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), coarctation of the aorta, and aortic valve stenosis. VSD is the most common acyanotic heart disease, accounting for 30% of cases. ASDs are less common than VSDs, but they are more frequently diagnosed in adult patients as they tend to present later. On the other hand, cyanotic heart diseases are less common and include tetralogy of Fallot, transposition of the great arteries (TGA), and tricuspid atresia. Fallot’s is more common than TGA, but TGA is the more common lesion at birth as patients with Fallot’s generally present at around 1-2 months. The presence of cyanosis in pulmonary valve stenosis depends on the severity and any other coexistent defects.

Management of Acute Epiglottitis

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

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

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

Common Knee Problems in Children and Young Adults

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

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

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

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

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

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.

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.

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

Snoring in Children: Possible Causes

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

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

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

According to the latest Resuscitation Council guidelines for paediatric BLS, the correct initial action when there are no signs of breathing is to give 5 rescue breaths. This is different from the adult algorithm where chest compressions may be done first. Giving 2 rescue breaths initially is incorrect. Chest compressions are given at a ratio of 30:2 if there is only one rescuer and at a ratio of 15:2 if there are multiple rescuers, but only after the initial 5 rescue breaths have been given. It is important to remember that in children, respiratory arrest is more common than cardiac arrest.

Paediatric Basic Life Support Guidelines

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

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

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

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

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

Organisms causing meningitis in children

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

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

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

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

Stridor in Children: Causes and Symptoms

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

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

Managing Infantile Colic: Supportive Advice and Reassurance

Infantile colic can be a challenging condition for both parents and babies. While there is little evidence for treating colic, there are some strategies that can help manage the symptoms. Nursing the baby upright after feeds, bathing the infant in warm water, using white noise, gentle movement of baby, eg rocking the crib, holding baby during an episode, winding well and offering reassurance when needed can all be helpful.

However, it’s important to note that medications such as Infacol, Colief, Gaviscon, and Ranitidine are not recommended as first-line treatments due to lack of evidence. Maternal diet modification, probiotic supplements, herbal supplements, and manipulative strategies are also not recommended.

If your baby is experiencing colic, know that you are not alone and that supportive advice and reassurance can go a long way in managing the symptoms.

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

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

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

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.

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.

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

Understanding Transient Tachypnoea of the Newborn

Transient tachypnoea of the newborn (TTN) is a common respiratory condition that affects newborns. It is caused by the delayed resorption of fluid in the lungs, which can lead to breathing difficulties. TTN is more common in babies born via caesarean section, as the fluid in their lungs may not be squeezed out during the birth process. A chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.

The management of TTN involves observation and supportive care. In some cases, supplementary oxygen may be required to maintain oxygen saturation levels. However, TTN usually resolves within 1-2 days. It is important for healthcare professionals to monitor newborns with TTN closely and provide appropriate care to ensure a full recovery. By understanding TTN and its management, healthcare professionals can provide the best possible care for newborns with this condition.

Understanding Genetic Conditions: Trisomy 18 (Edwards’ Syndrome)

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

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

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

Gross Motor Developmental Milestones

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

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

Studies have indicated that bed sharing is the most prominent risk factor for SIDS, followed by prone sleeping, parental smoking, hyperthermia and head covering, and prematurity.

Understanding Sudden Infant Death Syndrome

Sudden infant death syndrome (SIDS) is the leading cause of death in infants during their first year of life, with the highest incidence occurring at three months of age. There are several major risk factors associated with SIDS, including placing the baby to sleep on their stomach, parental smoking, prematurity, bed sharing, and hyperthermia or head covering. These risk factors are additive, meaning that the more risk factors present, the higher the likelihood of SIDS. Other risk factors include male sex, multiple births, lower social classes, maternal drug use, and an increased incidence during winter.

However, there are also protective factors that can reduce the risk of SIDS. Breastfeeding, room sharing (but not bed sharing), and the use of pacifiers have been shown to be protective. In the event of a SIDS occurrence, it is important to screen siblings for potential sepsis and inborn errors of metabolism.

Overall, understanding the risk factors and protective factors associated with SIDS can help parents and caregivers take steps to reduce the likelihood of this tragic event. By following safe sleep practices and promoting healthy habits, we can work towards reducing the incidence of SIDS.

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

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

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

Understanding Cow’s Milk Protein Intolerance/Allergy

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

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

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

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

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

Common Knee Problems in Children and Young Adults

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

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

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

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

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

Diagnosing Glandular Fever: Understanding Symptoms and Differential Diagnosis

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

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

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

Possible Causes of Jaundice in a Breastfed Baby: Excluding Cystic Fibrosis, Galactosaemia, ABO Incompatibility, and Hypothyroidism

Breastmilk jaundice is a common cause of jaundice in healthy, breastfed babies beyond two weeks of age. However, other potential causes should still be screened for. The exact mechanism of breastmilk jaundice is unknown, but breastfeeding should continue and bilirubin levels should be monitored. If levels are above the treatment line, phototherapy may be necessary. Jaundice can persist for up to 12 weeks in some cases. Cystic fibrosis is excluded as a diagnosis if the newborn blood-spot test is normal. Galactosaemia is unlikely if the baby has not shown symptoms such as difficulty feeding, vomiting, and faltering growth. ABO incompatibility typically presents within the first 24 hours of life, so it is unlikely if symptoms appear eight days after birth. Hypothyroidism is screened for in the newborn blood-spot test, and normal results exclude it as a diagnosis.

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.

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.

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.