Pierre-Robin syndrome is diagnosed in a baby who has micrognathia and a cleft palate. The baby is positioned in a prone position to alleviate upper airway obstruction. There is no familial history of similar conditions.

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 presents with microcephaly, small eyes, cleft lip/palate, polydactyly, and scalp lesions. Edward’s syndrome, or trisomy 18, is characterized by micrognathia, low-set ears, rocker bottom feet, and overlapping of fingers. Fragile X syndrome is a condition that causes learning difficulties, macrocephaly, a long face, large ears, and macro-orchidism. Noonan syndrome presents with 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 presents with hypotonia, hypogonadism, and obesity. William’s syndrome is characterized by short stature, learning difficulties, a friendly and extroverted personality, and transient neonatal hypercalcaemia. Finally, Cri du chat syndrome, also known as chromosome 5p deletion syndrome, presents with a characteristic cry due to larynx and neurological problems, feeding difficulties and poor weight gain, learning difficulties, microcephaly, micrognathism, and hypertelorism. It is important to note that Pierre-Robin syndrome has many similarities with Treacher-Collins syndrome, but the latter is autosomal dominant and usually has a family history of similar problems.

Treatment Ladder for Asthma in Children

Here we have a 7-year-old child who is currently on a regular inhaled very low dose corticosteroid and salbutamol PRN for asthma. However, despite the regular inhaled steroid, the child still requires salbutamol most days, indicating suboptimal control and the need for treatment escalation.

To guide treatment titration, the British Thoracic Society treatment ladder is the most well-recognized guideline in the UK. Based on this, the next step should be to add in an inhaled long-acting beta2 agonist or an LTRA (Leukotriene receptor antagonist) if over 5 years old. If the child was under 5 years old, then an LTRA alone would be added.

It is important to note that higher inhaled corticosteroid doses are treatment options further up the ladder, and theophylline would not normally feature in the primary care setting. Continuing the same treatment with review in 12 months is not appropriate as the child’s current disease control is suboptimal.

Understanding Koplik Spots in Measles Diagnosis

Koplik spots are a crucial clinical sign of measles infection, named after the American Paediatrician, Henry Koplik, who first described them in 1896. These spots appear as red spots with a bluish-white central dot on erythematous buccal mucosa, often described as looking like grains of salt on a wet background. They typically appear 1-2 days before the rash and may persist for a further 1-2 days afterwards.

It is essential for healthcare professionals to recognize Koplik spots as a pathognomonic feature of measles infection. However, fewer doctors may know how to identify them. Other clinical signs, such as herald patches, sub occipital lymph nodes, oral ulceration, and violaceous papules on the wrist, are not specific to measles and may lead to misdiagnosis.

In addition to accurate diagnosis, infection control measures should be considered in the GP surgery/OOH setting. For example, scheduling appointments for suspected measles patients at the end of surgery to avoid sharing a waiting room with vulnerable individuals. It is also crucial for healthcare workers and carers to ensure they are immune or have received 2 × MMR vaccines themselves to prevent the spread of measles.

To treat umbilical granulomas, salt or silver nitrate cautery can be applied. These granulomas are a common occurrence in babies and appear as a painless lump in the umbilicus, often accompanied by discharge. The umbilical stump typically falls off within ten days of birth, but granulomas can form as the area heals. To speed up the healing process, table salt can be applied for thirty minutes, followed by rinsing the area. This treatment should be repeated twice daily for five days and usually results in resolution within three weeks. If salt treatment is ineffective, silver nitrate cautery can be used, but it’s important to protect the surrounding skin with petroleum jelly.

Paediatric Umbilical Disorders

Embryology plays a significant role in the development of umbilical disorders in children. The umbilicus has two umbilical arteries and one umbilical vein during development. After birth, the cord separates, and the umbilical ring closes. Umbilical hernia is a common disorder in neonates, with up to 20% of infants affected. It is more prevalent in premature infants and usually resolves spontaneously within three years. Strangulation is rare. Paraumbilical hernia is another disorder caused by defects in the linea alba near the umbilicus. It is less likely to resolve spontaneously than an umbilical hernia. Omphalitis is a severe condition caused by an infection of the umbilicus, usually by Staphylococcus aureus. It can spread rapidly through the umbilical vessels, leading to portal pyaemia and portal vein thrombosis. Treatment involves a combination of topical and systemic antibiotics. Umbilical granuloma is characterised by cherry red lesions surrounding the umbilicus, which may bleed on contact and discharge seropurulent fluid. Chemical cautery with silver nitrate is an effective treatment. Persistent urachus is characterised by urinary discharge from the umbilicus and is caused by the persistence of the urachus, which attaches to the bladder. It is associated with other urogenital abnormalities. Persistent vitello-intestinal duct presents as an umbilical discharge that discharges small bowel content. It is best imaged using a contrast study to delineate the anatomy and is managed by laparotomy and surgical closure.

Managing Hand, Foot and Mouth Disease

Hand, foot and mouth disease (HFMD) is a common viral illness that affects children. It is important to note that it is unrelated to foot and mouth disease in animals. HFMD is generally managed conservatively, with a focus on encouraging the child to have a good fluid intake. It is not a notifiable illness, so there is no need to complete a notification form.

If there are any signs of significant dehydration or neurological symptoms, such as persistent headaches or myoclonic jerks, referral to paediatrics should be considered. However, viral swabs are often not used in clinical practice for HFMD, as appropriate and cost-effective management is prioritized.

It is important for parents to be reassured that HFMD is a common and manageable illness. This guidance applies to the UK, but it may not apply to other countries.

Sam should be prescribed antibiotics for her lower UTI symptoms. According to the BNF, the recommended treatment dosage is 4 mg/kg twice a day. Since Sam weighs 18.8 kg, her dosage would be 75 mg twice a day. If the solution contains 50 mg of trimethoprim in 5mls, then Sam’s dosage would be 7.5mls of solution twice a day.

Urinary Tract Infection in Children: Symptoms, Diagnosis, and Treatment

Urinary tract infections (UTIs) are more common in boys until 3 months of age, after which the incidence is substantially higher in girls. At least 8% of girls and 2% of boys will have a UTI in childhood. The presentation of UTIs in childhood depends on age. Infants may experience poor feeding, vomiting, and irritability, while younger children may have abdominal pain, fever, and dysuria. Older children may experience dysuria, frequency, and haematuria. Features that may suggest an upper UTI include a temperature of over 38ºC and loin pain or tenderness.

According to NICE guidelines, a urine sample should be checked in a child if there are any symptoms or signs suggestive of a UTI, with unexplained fever of 38°C or higher (test urine after 24 hours at the latest), or with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest). A clean catch is the preferable method for urine collection. If not possible, urine collection pads should be used. Invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible.

Infants less than 3 months old should be referred immediately to a paediatrician. Children aged more than 3 months old with an upper UTI should be considered for admission to the hospital. If not admitted, oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days. Children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin, or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours. Antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs.

Types of Juvenile Arthritis and Their Symptoms

Juvenile arthritis is a condition that affects children and adolescents, causing joint pain, swelling, and stiffness. There are different types of juvenile arthritis, each with its own set of symptoms. It is important to identify the type of arthritis a child has in order to provide appropriate treatment.

Juvenile psoriatic arthritis is a type of arthritis that should be considered if a child has arthritic symptoms along with dactylitis, nail pitting, or nail onycholysis, even if there is no personal or family history of psoriasis. This is because arthritis can occur before psoriasis develops.

Enthesis-related JIA should be considered if the arthritis is associated with inflammation at the site of a tendon or ligament insertion, such as heel pain.

Oligoarticular JIA should be considered if the arthritis is affecting up to four joints for over six months, often presenting with joint swelling and stiffness but with no or mild pain.

Septic arthritis and Systemic JIA are usually associated with fever and do not explain the nail pitting or dactylitis.

In summary, identifying the type of juvenile arthritis a child has is crucial for proper treatment. Symptoms such as dactylitis, nail pitting, and inflammation at the site of a tendon or ligament insertion can help differentiate between different types of juvenile arthritis.

Developmental Milestones for Infants: Typical Achievements by 14-21 Months

Infants develop at different rates, but most achieve certain skills by certain ages. By 14 months, most infants can finger feed themselves. By 19 months, they can use a spoon and fork, as well as run. By 20 months, they can take off clothes with help, and by 21 months, they can walk up steps. These milestones are important markers of typical development for infants.

Differentiating between Acute EBV, CMV, and Toxoplasmosis

Acute EBV typically presents with symptoms such as fatigue, malaise, fever, pharyngitis, and bilateral lymphadenopathy. Heterophil antibody tests are usually positive. On the other hand, CMV mononucleosis has a lower incidence of pharyngitis and cervical adenopathy. The clinical presentation of CMV infectious mononucleosis may be similar to EBV, but it is usually not accompanied by posterior cervical adenopathy, and non-exudative pharyngitis is minimal or absent.

Primary toxoplasmosis is acquired through the ingestion of undercooked meat containing toxoplasma cysts or fresh food contaminated by toxoplasma excreted in cats’ faeces. The infection is asymptomatic in 80-90% of immunocompetent patients. Highly characteristic of toxoplasmosis is asymmetrical lymphadenopathy limited to an isolated lymph node group. Patients with toxoplasmosis have little or no fever, fatigue, or pharyngitis.

Mild transient thrombocytopenia is not uncommon in EBV infectious mononucleosis. In contrast, patients with toxoplasmosis have little or no fever, fatigue, or pharyngitis. The diagnosis of ALL and HD is made by a combination of blood film examination, bone marrow aspiration and biopsy, and lymph node biopsy.

In summary, while EBV and CMV mononucleosis may have similar clinical presentations, the absence of posterior cervical adenopathy and minimal or absent non-exudative pharyngitis may indicate CMV. Asymmetrical lymphadenopathy limited to an isolated lymph node group is highly characteristic of toxoplasmosis.

Fever Management in Children

A fever over 38°C is an indication for admission. However, antipyretics should only be administered if the child appears distressed by the fever, rather than for the sole aim of reducing body temperature. It is important to note that antipyretic agents do not prevent febrile convulsions and should not be used specifically for this purpose. When using paracetamol or ibuprofen in children with fever, it is recommended to continue only as long as the child appears distressed and to consider changing to the other agent if the distress is not alleviated. It is not recommended to give both agents simultaneously, and only consider alternating these agents if the distress persists or recurs before the next dose is due.

In most cases, fever of this nature is viral in origin, and specific antibacterial intervention is not required. Cold sponging is also not effective in reducing fever. It is important to note that while a significant percentage of children suffer from febrile fits, these do not usually predispose the patient to the development of epilepsy later. The risk is very small, one to two in one hundred in the general population and one in fifty for the febrile convulsion group. Proper management of fever in children is crucial to ensure their well-being and prevent any unnecessary complications.

According to NICE guidelines, formula-fed infants with GORD should undergo a stepped care approach starting with a review of their feeding history. If the volume of feeds is excessive for the child’s weight, the next step is to reduce it to a total of 150 mL/kg body weight over 24 hours (6-8 times a day). Currently, Bobbie is consuming 1200-1400 ml over 24 hours, which is more than the recommended amount of 900 ml for his weight of 6kg. Therefore, his feeds should be reduced to 900 ml over 24 hours while maintaining the current frequency of 6-7 times a day. Decreasing the volume of each feed to 100ml would result in an insufficient total intake of 600-700ml over 24 hours. Reducing the frequency of feeds is not recommended for GORD, as smaller, more frequent feeds are more effective in improving symptoms. If reducing feed volume and frequency doesn’t significantly improve symptoms, a trial of feed thickeners or alginate therapy added to formula can be considered as options in the stepped care approach.

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 infants involves advising parents on proper feeding positions, ensuring the infant is not overfed, and considering a trial of thickened formula or alginate therapy. However, proton pump inhibitors (PPIs) are not recommended as a first-line treatment for isolated symptoms of regurgitation. PPIs may be considered if the infant experiences unexplained feeding difficulties, distressed behavior, or faltering growth. Metoclopramide, a prokinetic agent, should only be used with specialist advice.

Complications of gastro-oesophageal reflux can include distress, failure to thrive, aspiration, frequent otitis media, and dental erosion in older children. If medical treatment is ineffective and severe complications arise, fundoplication may be considered. It is important for healthcare professionals to be aware of the risk factors, symptoms, and management options for gastro-oesophageal reflux in infants.

Changes to UK Immunisation Schedule in 2020

In January 2020, the UK immunisation schedule was updated with a few minor changes. It is important to stay up-to-date with these changes as they may be tested in exams. One change to note is that both boys and girls should receive the HPV immunisation at the age of 12 to 13. This is an important step in protecting against certain types of cancer caused by the human papillomavirus. It is recommended that parents and healthcare providers ensure that children receive this immunisation at the appropriate age.

Metabolic conditions are typically inherited in an autosomal recessive manner, with the exception of inherited ataxias. On the other hand, structural conditions are often inherited in an autosomal dominant manner, although there are exceptions such as Gilbert’s syndrome and hyperlipidemia type II.

Autosomal Dominant Conditions: A List of Inherited Disorders

Autosomal dominant conditions are genetic disorders that are passed down from one generation to the next through a dominant gene. Unlike autosomal recessive conditions, which require two copies of a mutated gene to cause the disorder, autosomal dominant conditions only require one copy of the mutated gene. While some autosomal dominant conditions are considered structural, such as Marfan’s syndrome and osteogenesis imperfecta, others are considered metabolic, such as hyperlipidemia type II and hypokalemic periodic paralysis.

The following is a list of autosomal dominant conditions:

– Achondroplasia
– Acute intermittent porphyria
– Adult polycystic disease
– Antithrombin III deficiency
– Ehlers-Danlos syndrome
– Familial adenomatous polyposis
– Hereditary haemorrhagic telangiectasia
– Hereditary spherocytosis
– Hereditary non-polyposis colorectal carcinoma
– Huntington’s disease
– Hyperlipidaemia type II
– Hypokalaemic periodic paralysis
– Malignant hyperthermia
– Marfan syndromes
– Myotonic dystrophy
– Neurofibromatosis
– Noonan syndrome
– Osteogenesis imperfecta
– Peutz-Jeghers syndrome
– Retinoblastoma
– Romano-Ward syndrome
– Tuberous sclerosis
– Von Hippel-Lindau syndrome
– Von Willebrand’s disease*

It’s important to note that while most types of von Willebrand’s disease are inherited as autosomal dominant, type 3 von Willebrand’s disease is inherited as an autosomal recessive trait.

Possible causes of microcytic anaemia in a 9-month-old child

Microcytic anaemia is a condition characterized by a low level of haemoglobin (Hb) in red blood cells, along with small cell size. In a 9-month-old child, this can be caused by various factors. One possible cause is overconsumption of cow’s milk, which is low in iron but high in calories. This can lead to a lack of appetite and subsequent deficiencies in vitamins and minerals, especially iron. Another possible cause is folic acid deficiency, which typically results in megaloblastic anaemia rather than microcytic anaemia. Calorie deficit is unlikely in a child with a high weight percentile. Inflammatory bowel disease is rare in infancy and not supported by the given information. Finally, it is worth noting that a normal physiological fall in Hb occurs after birth, but by 6 months of age, the Hb level should be within the range of 110-140 g/l. Treatment for microcytic anaemia may involve dietary education and oral iron supplementation.

Pertussis-Containing Vaccines: Who Should Not Receive Them?

There are very few people who cannot receive pertussis-containing vaccines. However, if there is any doubt, it is important to seek advice from a consultant paediatrician, local Screening and Immunisation team, or consultant in Health Protection rather than withholding the vaccine.

There are only two situations where the vaccine should not be given. Firstly, if an individual has had a confirmed anaphylactic reaction to a previous dose of a pertussis-containing vaccine. Secondly, if an individual has had a confirmed anaphylactic reaction to neomycin, streptomycin, or polymyxin B, which may be present in trace amounts. In these cases, it is important to avoid the vaccine and seek alternative options.

It is recommended that children diagnosed with scarlet fever should not attend nursery or school until they have been on antibiotics for at least 24 hours.

Scarlet fever is a condition caused by erythrogenic toxins produced by Group A haemolytic streptococci, usually Streptococcus pyogenes. It is more common in children aged 2-6 years, with the highest incidence at 4 years. The disease is spread through respiratory droplets or direct contact with nose and throat discharges. The incubation period is 2-4 days, and symptoms include fever, malaise, headache, sore throat, ‘strawberry’ tongue, and a rash that appears first on the torso and spares the palms and soles. Scarlet fever is usually a mild illness, but it may be complicated by otitis media, rheumatic fever, acute glomerulonephritis, or rare invasive complications.

To diagnose scarlet fever, a throat swab is usually taken, but antibiotic treatment should be started immediately, rather than waiting for the results. Management involves oral penicillin V for ten days, while patients with a penicillin allergy should be given azithromycin. Children can return to school 24 hours after starting antibiotics, and scarlet fever is a notifiable disease. Desquamation occurs later in the course of the illness, particularly around the fingers and toes. The rash is often described as having a rough ‘sandpaper’ texture, and children often have a flushed appearance with circumoral pallor. Invasive complications such as bacteraemia, meningitis, and necrotizing fasciitis are rare but may present acutely with life-threatening illness.

Neonatal jaundice has manifested in Rex within 24 hours of his birth. The reasons behind neonatal jaundice can be classified based on the time elapsed since birth.

Understanding Jaundice in Newborns

Jaundice is a common condition in newborns that occurs due to the accumulation of bilirubin in the blood. The severity and duration of jaundice can vary depending on the cause and age of the baby. Jaundice in the first 24 hours is always considered pathological and can be caused by conditions such as rhesus haemolytic disease, ABO haemolytic disease, hereditary spherocytosis, and glucose-6-phosphodehydrogenase deficiency.

Jaundice in the neonate from 2-14 days is usually physiological and affects up to 40% of babies. It is more commonly seen in breastfed babies and is due to a combination of factors such as more red blood cells, fragile red blood cells, and less developed liver function. However, if jaundice persists after 14 days (21 days if premature), a prolonged jaundice screen is performed to identify the cause. This includes tests for conjugated and unconjugated bilirubin, direct antiglobulin test, TFTs, FBC and blood film, urine for MC&S and reducing sugars, and U&Es and LFTs.

Prolonged jaundice can be caused by conditions such as biliary atresia, hypothyroidism, galactosaemia, urinary tract infection, breast milk jaundice, prematurity, and congenital infections like 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. It is important to identify the cause of prolonged jaundice as some conditions like biliary atresia require urgent surgical intervention, while others like hypothyroidism can lead to developmental delays if left untreated.

Coughing is a common symptom that can be caused by various factors. Asthma, recurrent infections, and prolonged infections are very common causes of coughing. Cigarette smoking, habit or psychogenic cough, and idiopathic reasons are also common causes. Uncommon causes include aspiration, gastro-oesophageal reflux, incoordinate swallowing, intrabronchial foreign body, suppurative lung disease, and mediastinal or pulmonary tumors. Very rare causes include suppurative lung disease. Other less common causes of coughing include cystic fibrosis, post-infective conditions, tuberculosis, ciliary abnormalities, congenital abnormalities of the respiratory tract, and immunodeficiency.

Notification of scarlet fever is mandatory

Notification of scarlet fever must be done through established local channels. This condition is prevalent among children aged 2-6 years. The administration of antibiotics should not be delayed while waiting for throat swab results. The most frequent complication is otitis media, while rheumatic fever is a less common one. The causative agent is Group A haemolytic streptococci bacteria.

Scarlet fever is a condition caused by erythrogenic toxins produced by Group A haemolytic streptococci, usually Streptococcus pyogenes. It is more common in children aged 2-6 years, with the highest incidence at 4 years. The disease is spread through respiratory droplets or direct contact with nose and throat discharges. The incubation period is 2-4 days, and symptoms include fever, malaise, headache, sore throat, ‘strawberry’ tongue, and a rash that appears first on the torso and spares the palms and soles. Scarlet fever is usually a mild illness, but it may be complicated by otitis media, rheumatic fever, acute glomerulonephritis, or rare invasive complications.

To diagnose scarlet fever, a throat swab is usually taken, but antibiotic treatment should be started immediately, rather than waiting for the results. Management involves oral penicillin V for ten days, while patients with a penicillin allergy should be given azithromycin. Children can return to school 24 hours after starting antibiotics, and scarlet fever is a notifiable disease. Desquamation occurs later in the course of the illness, particularly around the fingers and toes. The rash is often described as having a rough ‘sandpaper’ texture, and children often have a flushed appearance with circumoral pallor. Invasive complications such as bacteraemia, meningitis, and necrotizing fasciitis are rare but may present acutely with life-threatening illness.

Calculation of Griseofulvin Dosage

When calculating the dosage of Griseofulvin for a patient, it is important to consider their weight and the recommended dose per kilogram. For example, if a patient weighs 15 kg and the recommended dose is 15 mg/kg OD, then the total dosage would be 225 mg.

Griseofulvin is available in a concentration of 125 mg in 5 ml, which means there is 25 mg in 1 ml. To determine the correct dosage, divide the total dosage (225 mg) by the concentration (25 mg/ml), which equals 9 ml. Therefore, the correct dosage for this patient would be 9 ml OD. It is important to carefully calculate and administer the correct dosage to ensure the patient receives the appropriate treatment.

If general advice has not been effective in treating nocturnal enuresis in a child, an enuresis alarm is typically the first-line option recommended by NICE guidelines. However, it may be worth exploring alternative reward systems to ensure the child is motivated to make the necessary effort. It is assumed that the mother can appropriately motivate their child, so this may not be a route taken by the clinic. If the enuresis alarm doesn’t work, pharmacological interventions such as desmopressin, oxybutynin, and unlicensed tolterodine may be considered.

Managing Nocturnal Enuresis in Children

Nocturnal enuresis, also known as bedwetting, is a common condition in children. It is defined as the involuntary discharge of urine during sleep in children aged 5 years or older who have not yet achieved continence. There are two types of nocturnal enuresis: primary and secondary. Primary enuresis occurs when a child has never achieved continence, while secondary enuresis occurs when a child has been dry for at least 6 months before.

When managing nocturnal enuresis, it is important to look for possible underlying causes or triggers such as constipation, diabetes mellitus, or recent onset urinary tract infections. General advice includes monitoring fluid intake and encouraging regular toileting patterns, such as emptying the bladder before sleep. Lifting and waking techniques and reward systems, such as star charts, can also be effective.

The first-line treatment for nocturnal enuresis is an enuresis alarm, which has a high success rate. These alarms have sensor pads that detect wetness and wake the child up when they start to wet the bed. If an enuresis alarm is not effective or not acceptable to the family, desmopressin can be used for short-term control, such as for sleepovers. It is important to note that reward systems should be given for agreed behavior rather than dry nights, such as using the toilet to pass urine before sleep. By following these management strategies, children with nocturnal enuresis can achieve continence and improve their quality of life.

Understanding Functional Incontinence in Children

Functional incontinence in children is often associated with a history of constipation or painful defecation. This may have been caused by an anal fissure, which can lead to ongoing issues with bowel movements. Children with functional incontinence may exhibit retentive posturing and withholding behavior, but any behavioral difficulties associated with soiling are likely a result of the incontinence rather than its cause.

Symptoms of functional incontinence include frequent low-volume solid stools, which can be so large that they block the toilet. Children may also be aware of soiling but deny the urge to defecate associated with their episodes. In some cases, they may be unable to differentiate between passing gas and passing feces. On examination, stools may be palpable in the abdomen or rectum.

Non-retentive fecal incontinence is a less common form of functional incontinence, typically seen in children over 4 years old with no evidence of constipation. In this form, stools are more likely to be passed in inappropriate places. There may be an associated oppositional defiant disorder or conduct disorder.

Overall, understanding the symptoms and causes of functional incontinence in children can help parents and healthcare providers address the issue and provide appropriate treatment.

The classic presentation of androgen insensitivity is primary amenorrhoea, which is accompanied by groin swellings and absence of pubic hair. These symptoms suggest that the patient has undescended testes and is genetically male (46 XY) but phenotypically female due to increased oestradiol levels. Breast development is a common result of this condition, previously known as testicular feminisation syndrome.

While non-Hodgkin’s lymphoma could also cause groin swellings, it is less likely to be the cause of delayed puberty and would typically present with systemic symptoms.

Disorders of sex hormones can have various effects on the body, as shown in the table below. Primary hypogonadism, also known as Klinefelter’s syndrome, is characterized by high levels of gonadotrophins and low levels of testosterone. Patients with this condition often have small, firm testes, lack secondary sexual characteristics, and are infertile. They may also experience gynaecomastia, which increases their risk of breast cancer. Diagnosis is made through chromosomal analysis.

Hypogonadotrophic hypogonadism, or Kallman’s syndrome, is a cause of delayed puberty due to low levels of sex hormones. It is usually inherited as an X-linked recessive trait and is caused by the failure of GnRH-secreting neurons to migrate to the hypothalamus. Patients with this condition may have hypogonadism, cryptorchidism, anosmia, and low sex hormone levels. However, their LH and FSH levels are inappropriately low or normal. They are typically of normal or above-average height, but may also have cleft lip/palate and visual/hearing defects.

Androgen insensitivity syndrome is an X-linked recessive condition that causes end-organ resistance to testosterone, resulting in genotypically male children (46 XY) having a female phenotype. This condition is also known as complete androgen insensitivity syndrome or testicular feminisation syndrome. Patients with this condition may experience primary amenorrhoea, undescended testes causing groin swellings, and breast development due to the conversion of testosterone to oestradiol. Diagnosis is made through a buccal smear or chromosomal analysis to reveal a 46 XY genotype. Management involves counselling to raise the child as female, bilateral orchidectomy to reduce the risk of testicular cancer due to undescended testes, and oestrogen therapy.

Gross Motor Developmental Milestones

Gross motor developmental milestones refer to the physical abilities that a child acquires as they grow and develop. These milestones are important indicators of a child’s overall development and can help parents and healthcare professionals identify any potential delays or concerns. The table below summarizes the major gross motor developmental milestones from 3 months to 4 years of age.

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 pull themselves to a sitting position and roll from front to back. At 9 months, they should be able to crawl and pull themselves to a standing position. 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. Finally, at 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. By monitoring a child’s gross motor developmental milestones, parents and healthcare professionals can ensure that they are meeting their developmental goals and identify any potential concerns early on.

Asplenia and Splenic Dysfunction: Important Considerations for Vaccinations

A surprising answer for many, the medical conditions that require additional vaccines may not be what you expect. While immunosuppression and diabetes are common guesses, patients with asplenia or splenic dysfunction (such as those with coeliac disease or sickle cell) should receive Men ACWY, Pneumococcal, and influenza vaccines in addition to the routine schedule.

It’s important to note that asplenia and splenic dysfunction are not rare conditions. In fact, one in a hundred patients may have coeliac disease, whether diagnosed or not. Additionally, those with complement disorders (including those receiving complement inhibitor therapy) should also receive the Meningococcal ACWY vaccine.

Overall, it’s crucial for healthcare professionals to consider these conditions when determining a patient’s vaccination schedule. By doing so, we can help protect those who may be at higher risk for vaccine-preventable diseases.

Due to a recent surge in meningitis W cases, the NHS is now advising all incoming students to receive the meningitis ACWY vaccine.

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 specific intervals. At 12-13 months, the Hib/Men C, MMR, PCV, and Men B vaccines are given. At 3-4 years, the ‘4-in-1 Preschool 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 is also 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, while students going to university or college for the first time should contact their GP to have the vaccine before the start of the academic year.

The Men C vaccine used to be given at 3 months but has now been discontinued as there are almost no cases of Men C disease in babies or young children in the UK. 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.

The temperature range for a vaccination refrigerator should be between +2ºC and +8ºC.

Other Aspects of Immunisation

Consent is an important aspect of immunisation, and the Greenbook provides useful information on this topic. Written consent is not required, and a person with parental responsibility may give consent on behalf of a child who is not competent to give or withhold consent. Parental responsibility is defined by the Children Act 1989, and unmarried fathers can acquire it if they are named on the child’s birth certificate. If parents disagree, immunisation cannot go ahead without specific court approval. A person with parental responsibility doesn’t need to be present at the time of immunisation, but the healthcare provider must be satisfied that consent has been given in advance.

Vaccine storage is also crucial to ensure the effectiveness of immunisation. Vaccines should be stored in a fridge at +2ºC to +8ºC and kept in their original packaging to protect them from UV light. The temperature of the refrigerator should be monitored using a maximum-minimum thermometer and recorded daily. Ordinary domestic refrigerators should not be used, and surgeries should keep no more than 2 to 4 weeks’ supply of vaccines at any time. By following these guidelines, healthcare providers can ensure that vaccines are stored properly and administered safely to patients.

Indications for Paediatric Circumcision

There are several indications for paediatric circumcision, with the most common being pathological phimosis. This occurs when scarring of the opening of the foreskin makes it non-retractable, which is rare before the age of 5 years. In such cases, circumcision is the only absolute indication.

Recurrent episodes of balanoposthitis, or infection beneath the foreskin, can also be an indication for circumcision. While this is not a common occurrence, it can be troublesome and may require surgical intervention.

In rare cases, paediatric circumcisions may be required for other conditions. However, these are not as common as pathological phimosis or balanoposthitis. It is important to consult with a healthcare provider to determine if circumcision is necessary for your child.

Medications for Croup: Understanding Their Uses and Limitations

Croup is a common respiratory illness in children, characterized by a barking cough and inspiratory stridor. While it is usually caused by a viral infection, treatment with medications can help alleviate symptoms and prevent complications. Here is a breakdown of some commonly used medications for croup and their uses:

Dexamethasone: This steroid medication is recommended for all children with mild to moderate croup. It helps reduce inflammation in the airways and can improve symptoms within hours.

Amoxicillin: While croup is usually caused by a virus, bacterial infections can sometimes complicate the illness. Amoxicillin is an antibiotic that can be used to treat bacterial infections in children with croup.

Cetirizine: This antihistamine medication is not recommended for children with croup, as it is used to relieve allergy symptoms and has no effect on the underlying cause of croup.

Salbutamol: This medication is used to treat asthma and other respiratory conditions, but is not typically used for croup.

Simple linctus: This cough syrup contains citric acid and is sometimes used as a demulcent to soothe the throat. However, its effectiveness in reducing cough frequency is limited.

It is important to note that medications should only be used under the guidance of a healthcare professional, and that treatment for croup may vary depending on the severity of the illness and the individual needs of the child.

Slipped Upper Femoral Epiphysis

Slipped upper femoral epiphysis is a condition that primarily affects boys aged 10 to 15. It occurs when the upper femoral epiphysis slips in a posterior inferior direction with respect to the femur. The exact cause of this condition is unclear, but it has been suggested that hormonal or calcification abnormalities may play a role. Obese children with delayed secondary sexual development or tall thin boys are particularly susceptible.

Symptoms of slipped upper femoral epiphysis include rest pain, limp, pain on movement, reduced range of abduction and internal rotation, and an externally rotated and shortened affected leg. It is important to note that musculoskeletal disease doesn’t typically present with a shortened leg.

Other conditions that may be mistaken for slipped upper femoral epiphysis include Perthes’ disease, Osgood-Schlatter syndrome, and chondromalacia patellae. Perthes’ disease is avascular necrosis of the femoral head in childhood, while Osgood-Schlatter syndrome is an overuse syndrome associated with physical exertion before skeletal maturity. Chondromalacia patellae is softening of the articular cartilage of the patella usually caused by indirect trauma.