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Symposium articles

Optimising the management of children with cystic fibrosis

24 Feb 2022Registered users

Cystic fibrosis (CF) is an autosomal recessive disorder resulting from two disease-causing mutations in the cystic fibrosis transmembrane regulator (CFTR) gene located on chromosome 7. CFTR is a chloride and bicarbonate channel found in sweat glands and the epithelial cells of the respiratory and digestive tracts. CF is the most common life-limiting genetic disorder in the UK, diagnosed in one in every 2,500 babies. The median age of death in the UK has been rising steadily and is 36 years. Most deaths in young people are the result of rapidly progressing lung disease. Use of CFTR modulators has resulted in a step change in CF management, improved lung function and will help to improve survival. CFTR modulator therapy targets the underlying CFTR defect.

Diagnosis and management of osteogenesis imperfecta

24 Feb 2022Registered users

Osteogenesis imperfecta is a group of rare inherited skeletal disorders characterised by a greatly increased risk of fragility fractures. The reduction in bone strength is due to defects in its material properties and mineralisation. Low trauma fractures typically start in infancy e.g. as a consequence of falling when learning to walk. Rarely mild osteogenesis imperfecta can present for the first time during adulthood. Diagnosis is primarily clinical, based on a history of multiple low trauma fractures during infancy and childhood, and other clinical features.

Juvenile spondyloarthropathies often go unrecognised

25 Jun 2021Registered users

Juvenile spondyloarthropathy (JSpA) is an umbrella term encompassing enthesitis-related arthritis, juvenile onset ankylosing spondylitis, juvenile psoriatic arthritis, IBD-related arthritis and reactive arthritis. Initial assessment of any childhood arthropathy should include a full blood count with differentials and inflammatory markers (CRP and ESR), which will be normal in most cases of JSpA, or may reflect a mild inflammatory response and anaemia relating to chronic disease. RF and ANA are characteristically negative. Children with JSpA should be tested for HLA-B27. Children with suspected JSpA should be referred via their GP to a tertiary paediatric rheumatology centre.

Diagnosis and management of acute asthma in children

25 Jun 2021Registered users

Asthma affects 1.1 million children in the UK, and up to 50% experience asthma exacerbations each year. A previous asthma attack is the most important risk factor for future episodes. Modifiable risk factors include poor symptom control, suboptimal treatment regimens, over-reliance on SABAs and poor adherence to preventer therapy. Following an attack all children should receive asthma education as well as an updated personalised asthma action plan. Patients and/or parents must be able to demonstrate correct use of inhalers. A GP review should be carried out within two working days of an asthma attack.

Prompt treatment of impetigo reduces risk of spread

22 Jun 2020Paid-up subscribers

Impetigo is a common contagious bacterial infection of the skin. The causative organisms are either Staphylococcus aureus or, less commonly, Streptococcus pyogenes. The infection can occur at any age, but it is particularly common in children, especially the pre-school and early school age years, and tends to be more frequent during the summer months. It may arise on previously normal skin or complicate a pre-existing dermatosis. The diagnosis is essentially a clinical one, but if in doubt a swab should be taken for bacteriological culture.

Diagnostic assessment key in autism spectrum disorder

22 Jun 2020Paid-up subscribers

Autism spectrum disorder (ASD) is a complex pervasive neurodevelopmental disorder with an estimated lifetime prevalence of 1%. ASD presents across a wide range of intellectual ability and persists throughout life. Core symptoms include abnormal social interaction and communication, restricted and repetitive interests or activities, associated with lack of cognitive flexibility, and unusual sensory responses. ASD is highly heritable and polygenic. The male:female ratio of ASD is 3:1. Although the behavioural presentation has a childhood onset, approximately 40% of children with ASD are undiagnosed.

 

Mental health

Optimising the management of depression in children

24 Jul 2020Registered users

In a large meta-analysis, the prevalence of depression was twice as common in adolescents (5.7%) than children (2.8%). The 2:1 female to male ratio of depression seen in adults becomes apparent from the age of 12 years. Three quarters of children aged 3-17 years with depression also have anxiety, and almost half have associated behaviour problems. Depression should be treated by child and adolescent mental health services unless the episode is mild and of < 2-3 months’ duration.

Diagnostic assessment key in autism spectrum disorder

22 Jun 2020Paid-up subscribers

Autism spectrum disorder (ASD) is a complex pervasive neurodevelopmental disorder with an estimated lifetime prevalence of 1%. ASD presents across a wide range of intellectual ability and persists throughout life. Core symptoms include abnormal social interaction and communication, restricted and repetitive interests or activities, associated with lack of cognitive flexibility, and unusual sensory responses. ASD is highly heritable and polygenic. The male:female ratio of ASD is 3:1. Although the behavioural presentation has a childhood onset, approximately 40% of children with ASD are undiagnosed.

 

Allergy

Improving the detection and management of peanut allergy

25 May 2020Registered users

Peanut allergy currently affects around 2% of the population. It is the most common cause of fatal food related anaphylaxis. Most patients (80%) will have long-lived peanut allergy. Primary peanut allergy most commonly presents in the first 5 years of life after the first known exposure to peanut. Clinical features are those of an IgE-mediated reaction. All patients with a history suggestive of peanut allergy should be referred to an allergy clinic for comprehensive assessment and management.

History taking the key to diagnosing food allergy in children

25 Jul 2018Registered users

Allergy to milk and egg are the two most prevalent food allergies in children. They are typically diagnosed in infancy and carry a good prognosis with the majority of cases resolving before the child reaches school age. Other allergies may present later in childhood and are more likely to persist. There is evidence of a causal link between early onset severe and widespread eczema that is unresponsive to moderate topical steroids and development of IgE mediated food allergy, in particular peanut allergy. The EAT study showed that infants who were weaned early and exposed to egg and peanut had a significant reduction in allergy to both foods.



 

Musculoskeletal disorders

Optimising the management of congenital talipes

23 Oct 2013Paid-up subscribers

Congenital talipes equinovarus (CTEV) is a condition of the lower limb in which there is fixed structural cavus, forefoot adductus, hindfoot varus and ankle equinus. It is important to differentiate CTEV from a non-structural or positional talipes which is fully correctable. This positional variant occurs about five times as commonly as CTEV. The latter condition does not require casting or surgical treatment. The majority of CTEV cases are picked up at the early baby check or on prenatal ultrasound, and referred to the paediatric orthopaedic service. However, some cases are mistaken early on as the positional variant, and may therefore present to the GP e.g. at the six week check. Urgent referral is warranted as the Ponseti treatment should be started  early. [With external links to the evidence base]

Diagnosing and managing hip problems in childhood

24 Jun 2013Paid-up subscribers

The hip and proximate tissues are implicated in a variety of childhood conditions, and in the differential diagnosis of many more. To a large extent the possible diagnoses are limited by the child’s age, an accurate history and thorough examination. [With external links to the evidence base]

 

Special reports

Optimising the management of depression in children

24 Jul 2020Registered users

In a large meta-analysis, the prevalence of depression was twice as common in adolescents (5.7%) than children (2.8%). The 2:1 female to male ratio of depression seen in adults becomes apparent from the age of 12 years. Three quarters of children aged 3-17 years with depression also have anxiety, and almost half have associated behaviour problems. Depression should be treated by child and adolescent mental health services unless the episode is mild and of < 2-3 months’ duration.

Improving the detection and management of peanut allergy

25 May 2020Registered users

Peanut allergy currently affects around 2% of the population. It is the most common cause of fatal food related anaphylaxis. Most patients (80%) will have long-lived peanut allergy. Primary peanut allergy most commonly presents in the first 5 years of life after the first known exposure to peanut. Clinical features are those of an IgE-mediated reaction. All patients with a history suggestive of peanut allergy should be referred to an allergy clinic for comprehensive assessment and management.

Early recognition key in child and adolescent anxiety disorders

23 Apr 2020Registered users

Anxiety disorders are common, highly treatable conditions, with a strong evidence base for cognitive behaviour therapy. In a recent population sample of the under 12s, only 65% of those who met criteria for a diagnosis of an anxiety disorder had sought professional help and only 3.4% had received an evidence-based treatment. Assessment should include an exploration of neurodevelopmental conditions, drug and alcohol misuse, and speech and language problems.

Diagnosing and managing cystic fibrosis in children

22 Nov 2018Registered users

Cystic fibrosis (CF) is a multisystem genetic disorder affecting around 1 in 2,500 live births in the UK. Although all newborns undergo screening for CF, around 15% of infants will present shortly after birth with meconium ileus and some will already have faltering growth when the screening results are available at 3-4 weeks of age. Infants who present with meconium ileus should be treated with a high index of suspicion for CF until proven otherwise. Mucociliary dysfunction leads to accumulation of mucus in the airways and secondary infection. Respiratory symptoms may be non-specific initially and include cough and wheeziness, frequent respiratory infections and, in older children, sinusitis.

Diagnosing and managing sepsis in children

23 Jan 2018Registered users

The clinical features of sepsis are: fever; tachycardia, with no other explanation; tachypnoea, with no other explanation; leukocytosis or leucopenia. To meet the International Pediatric Sepsis Consensus Conference definition, a patient should have two of these features, one of which should be fever or abnormal white cell count, in the presence of infection. Every time a child who has symptoms or signs suggestive of infection is assessed, it is important to consider whether this could be sepsis. This may seem obvious in a child presenting with fever, but not all children with sepsis present with high fever or focal signs.

Improving outcomes in patients with cystic fibrosis

08 Aug 2011Paid-up subscribers

Cystic fibrosis (CF) is the most common fatal inherited disease in Caucasian people. Recent data indicate that there are more than 9,000 patients with CF in the UK. This would equate to around one or two patients for an average GP practice. Recognising the symptoms and signs that may point to a diagnosis of CF is important so that appropriate referral and investigations can be organised. Symptoms suggestive of CF in the first two years of life include failure to thrive, steatorrhoea, recurrent chest infections, meconium ileus, rectal prolapse and prolonged neonatal jaundice. In older children, additional suggestive symptoms include ‘asthma'-like symptoms, clubbing and idiopathic bronchiectasis, nasal polyps and sinusitis, and heat exhaustion with hyponatraemia. Suggestive symptoms in patients who present in adulthood, who are more likely to have atypical CF, include azoospermia, bronchiectasis, chronic sinusitis, acute or chronic pancreatitis, allergic bronchopulmonary aspergillosis, focal biliary cirrhosis, abnormal glucose tolerance, portal hypertension and cholestasis/gallstones. [With external links to the evidence base]

Tracking down chlamydia infection in primary care

21 Sep 2010Paid-up subscribers

Infection is usually asymptomatic. Sexually active people aged under 20 in the UK are the group most likely to have a positive result if tested. This is probably because this group changes partners more frequently. However, there also appear to be immunological factors which make infection more persistent in the young. Transmission occurs through vaginal, rectal or oral sex. It can also be vertically transmitted. Untreated chlamydia infection can result in complications including pelvic inflammatory disease (potentially leading to infertility or ectopic pregnancy), sexually acquired reactive arthritis and epididymo-orchitis. There is controversy over important questions such as the likelihood of complications developing and, hence, what sort of control measures are appropriate. Some countries, for example England, have set up screening programmes while others, such as Scotland, have elected not to. [With external links to the evidence base]

 

Paediatric research reviews

Do inhaled corticosteroids in the early years affect growth?

24 Feb 2022Registered users

Use of inhaled corticosteroids (ICS) in young children was associated with a slightly reduced height at the age of six but only in those who continued treatment into their sixth year, in a prospective study from Denmark.

Raised FeNO predicts asthma attacks in children

24 Jan 2022Registered users

High FeNO levels were independently associated with an increased risk of future asthma attacks in children, in a prospective observational cohort study from the UK. Other risk factors identified included a recent history of asthma attacks, and a reduction in the asthma medication ratio.

 

Dermatology

Diagnosing childhood eczema can be challenging

25 Sep 2017Registered users

Atopic eczema is the most common endogenous type of eczema in infants and children and affects around 15-20% of school-age children in the UK. Its prevalence is highest in children under the age of two and subsequently diminishes with age. It has a chronic, relapsing course. An emergency referral to a dermatologist or paediatrician should be made via telephone when there is a suspicion of eczema herpeticum or eczema coxsackium. Other indications for referral include diagnostic uncertainty, recurrent secondary infection, when control remains poor despite topical treatments, and for patients with emotional distress or significant sleep disturbance.

Prompt treatment of acne improves quality of life

20 Jun 2012Paid-up subscribers

Acne vulgaris is an inflammatory disorder of the pilosebaceous (hair follicle) units. It is very common, affecting 90% of teenagers, albeit often mildly. However, its onset may be delayed until the late twenties or early thirties, and very occasionally even later. In the majority of cases, acne settles by the mid-twenties, but for some patients it may still be problematic in their forties and beyond. Patients should be referred to a dermatologist if they have: a very severe variant; severe social or psychological problems; risk of scarring; failed to respond to treatment or are suspected of having an underlying endocrinological cause. [With external links to the evidence base]

 

Photoguide

Conditions in children

23 Sep 2014Paid-up subscribers

  • Juvenile plantar dermatosis
  • Molluscum contagiosum
  • Verrucas
  • Impetigo
  • Breast buds
  • Slapped cheek disease

Infant problems

09 Aug 2011Registered users