Diagnosis and management of osteogenesis imperfecta

24 Feb 2022Paid-up subscribers

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.

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.

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.

Managing common skin conditions in infants

24 Jun 2019Paid-up subscribers

Atopic eczema, or atopic dermatitis, affects up to 20% of children and often presents in infancy. Cow’s milk allergy can also manifest as eczema and gastrointestinal (GI) symptoms. Food allergy should be suspected if there is a clear history of a reaction to a food in infants with moderate to severe eczema not responding to standard treatment, in infants with very early onset eczema (under 3 months) and those with GI symptoms. Seborrhoeic dermatitis is often an early manifestation of atopic eczema. Naevus simplex is a common congenital capillary malformation occurring in up to 40% of newborns. Port wine stains are less common, affecting about 0.3% of infants. 

Improving outcomes in allergic rhinitis in children

24 Jun 2019Paid-up subscribers

Allergic rhinitis can affect a child’s physical health, reduce their quality of life, sleep and concentration, and impact on school performance. Children with allergic rhinitis are at increased risk of developing asthma. Around 85% of those with asthma have allergic rhinitis, which can complicate diagnosis and management and also increase the risk of hospitalisation for asthma exacerbations. However, appropriate management of allergic rhinitis can improve asthma control. The diagnosis of allergic rhinitis can usually be made on the basis of the patient’s history and examination alone. 

Managing acute asthma in children

25 Jun 2018Paid-up subscribers

The BTS/SIGN guideline specifies that the accurate measurement of oxygen saturation is essential in the assessment of all children with acute wheezing. It recommends that oxygen saturation probes and monitors should be available for use by all healthcare professionals assessing acute asthma in primary care. It is important to use the appropriate size paediatric probe to ensure accuracy. Any patient who presents to the GP practice with any features of a moderate exacerbation should be referred to an emergency department for further assessment and monitoring. 

Be vigilant for depression in children and adolescents

25 Jun 2018Registered users

The symptoms of depression in adolescents are similar to those in adults. Depression in children of primary school age may be very subtle and symptoms include mood fluctuations, tearfulness, frustration or temper tantrums. If depression is suspected, it is essential to evaluate the degree of risk. Risk has two key aspects: the likelihood of a potentially harmful incident occurring and degree of potential harm.

Diagnosing heart disease in children and adolescents

22 Jun 2017Paid-up subscribers

Heart disease in children and adolescents can be congenital, in which structural defects of the heart and major blood vessels are present from birth, acquired, whereby disease develops during life, or genetic, including diseases affecting the heart muscle, electrical system or the aorta. The incidence of congenital heart disease has decreased over the past 30 years, with approximately 1 in 180 babies born with congenital heart disease in the UK each year. Several cardiac diseases are genetic and can manifest in childhood. Most are primary cardiomyopathies, ion channel diseases, coronary artery disease from familial hypercholesterolaemia or aortopathies.

Early referral key to better outcomes in eating disorders

22 Jun 2017Paid-up subscribers

Early recognition, referral and treatment are essential to achieve good outcomes for children and adolescents with eating disorders. Eating disorders have the highest mortality of all psychiatric conditions. However, provided there is access to early and evidence-based treatment, the majority of patients who are diagnosed with an eating disorder before the age of 18 will make a full recovery. Overall, outcomes in this age group are better than in adults. All children and adolescents with a possible eating disorder should be referred to their local specialist community-based eating disorder service for children and young people as soon as possible.

Early intervention crucial in anxiety disorders in children

23 Jun 2016Paid-up subscribers

Anxiety disorders are among the most common mental health disorders of childhood. Three quarters of anxiety disorders have their origins in childhood, with presentation often chronic in nature. Where the child is experiencing significant distress or functional impairment (e.g. missing school, not taking part in age-appropriate activity), then specialist input is likely to be needed.

Optimising the management of wheeze in preschool children

23 Jun 2016Paid-up subscribers

One third of all preschool children will have an episode of wheeze and many of these present to primary care. Most will fall within a spectrum of diagnosis ranging from episodic viral wheeze to multiple trigger wheeze or early onset asthma. The child should be referred to hospital immediately if you suspect an inhaled foreign body or anaphylaxis (after administering IM adrenaline). NICE recommends immediate referral for children with wheeze and high-risk features and also those with intermediate-risk features failing to respond to bronchodilator therapy.

Optimising the management of bronchiolitis in infants

05 Aug 2015Paid-up subscribers

Bronchiolitis shows a seasonal pattern with peak incidence occurring in the winter. Around 2-3% of children require admission to hospital. Admission rates are highest in infants less than three months old and those with underlying comorbidities. Infants will have a coryzal prodrome lasting one to three days before developing a persistent cough.

Managing the child with a fever

05 Aug 2015Registered users

Most illnesses associated with fever are self-limiting and children recover with no specific treatment. However, fever can also be the presenting feature of serious illness, which may be life threatening if not diagnosed and treated appropriately. If the diagnosis is unclear, potentially serious, and specific treatment may be needed to prevent deterioration, the child should be referred.

Be vigilant for invasive meningococcal disease

23 Jun 2014Paid-up subscribers

Neisseria meningitidis is an encapsulated Gram-negative diplococcus which colonises the upper respiratory tract without causing symptoms in up to 25% of the population. In the UK serogroup B causes more than 80% of cases of invasive meningococcal disease (IMD). Petechiae which start to spread, become purpuric, occur in association with signs of shock or meningitis, or in any child who appears ill should always be treated as IMD until proven otherwise. Any child with symptoms and signs suggestive of IMD and a non-blanching rash should be transferred to hospital as an emergency immediately. IM (or IV) benzylpenicillin (or ceftriaxone) should be given at the earliest opportunity, but treatment should not delay transfer. [With external links to the evidence base]

Diagnosing and managing peanut allergy in children

23 Jun 2014Registered users

The prevalence of peanut allergy is thought to be rising with 1 in 70 children affected in the UK. Accidental exposures are frequent and nut allergies are the leading cause of fatal food allergic reactions. Peanut allergy most commonly presents in the first five years of life. More than 90% of nut allergic children will have a history of eczema, asthma, rhinitis or another food allergy. The clinical diagnosis of peanut allergy is made from a typical history in combination with clinical evidence of sensitisation i.e. the presence of peanut-specific IgE or positive skin prick tests. [With external links to the evidence base]

Optimising treatment of allergic rhinitis in children

24 Jun 2013Paid-up subscribers

Acute and chronic symptoms of allergic rhinitis can disrupt school and leisure activities, significantly reducing quality of life. Temporal patterns of exacerbation give clues as to the most important aeroallergens implicated.  Where continuing deterioration presents a challenge and allergic symptoms remain uncontrolled, patients should be referred to a specialist allergy service to be considered for immunotherapy. [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]

Identifying heritable connective tissue disorders in childhood

20 Jun 2012Paid-up subscribers

Heritable connective tissue disease is rare, each disorder estimated at 1-10 per 100,000. However, as a group they are prevalent enough to constitute an important diagnostic challenge. Connective tissue disorders most significantly affect three systems: musculoskeletal, ocular and cardiovascular. Awareness of these conditions in children and early suspicion in primary care provides the opportunity to initiate early and appropriate specialist management and surveillance, which can dramatically improve the outcome for your patients. The conditions often run in families and thus a thorough family history is important. Making a diagnosis in the child can have a positive outcome for other family members, as yet undiagnosed, who may benefit from intervention themselves. In children these conditions seldom require emergency admission at the time of first presentation and therefore you have time to consider the symptoms and signs and read around them before initiating appropriate referrals. [With external links to the evidence base]

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]

Diagnosing and managing food allergy in children

22 Jun 2011Paid-up subscribers

Studies suggest that the prevalence of food allergy in children in the UK is now around 5%.The number of children put on restricted diets by their parents because of presumed allergy is likely to be much higher. A recent study in the Isle of Wight found that 33% of mothers thought their child had had an allergic reaction to food by the age of three. Careful documentation using a targeted and thorough history usually makes it possible to distinguish suspected IgE-mediated allergy from non IgE-mediated. Once diagnosed, management requires allergen avoidance guided by a dietician together with education in recognising and treating reactions appropriate to the underlying mechanism. Food allergy is commonly outgrown so regular reassessment is essential both to monitor for tolerance and also to look for development of allergic comorbidities. [With external links to the evidence base]

Treating nocturnal enuresis in children in primary care

21 Jun 2011Paid-up subscribers

Nocturnal enuresis is defined as involuntary wetting while asleep at least twice a week in children over the age of five. Primary nocturnal enuresis describes those children who have always been wet. Secondary nocturnal enuresis is defined as a relapse after a child has been completely dry for at least six months. Up to the age of nine years, nocturnal enuresis is twice as common in boys than girls but thereafter there is no sex difference in prevalence. At the age of five, 2% of children wet every night, and 1% are still wetting every night in their late teens. Bedwetting is not primarily caused by an underlying psychological disorder. However, psychological problems and life events can exacerbate or precipitate bedwetting in susceptible children who have a genetic basis for their condition.

GPs should evaluate all children following UTI

21 Jul 2010Paid-up subscribers

Urinary tract infections (UTIs) are common in children in the community. Epidemiological data from the UK and Sweden suggest that 10% of girls and 3% of boys will have had an infection by 16 years of age. The majority are acute, isolated illnesses that resolve quickly, with no long-term implications for the patient. However, UTIs may be associated with underlying congenital abnormalities, and recurrent infections can lead to renal scarring. Failure to consider the diagnosis, or investigate appropriately following a diagnosis, may therefore result in long-term damage.  [With external links to the evidence base]

Education key in tackling childhood constipation

20 Jul 2010Paid-up subscribers

Constipation is the most common childhood gastroenterological  problem, affecting 5-30% of children. Up to a third of these children will develop chronic constipation. The signs and symptoms of constipation in children are seldom clear and there is frequently a delay in seeking help in either a primary or secondary care setting. Patients and their parents often express concern that healthcare professionals do not take the problem seriously and the advice given is sometimes contradictory. Chronic constipation and soiling can have a massive impact on all aspects of a child's life, and that of their family, causing social, educational and psychological problems. [With external links to the evidence base]

Managing diarrhoea and vomiting in children

27 Aug 2009Paid-up subscribers

Diarrhoea and vomiting are common symptoms in children. In the majority of cases all that is required is some basic advice on management and appropriate reassurance. However, a few children will be at greater risk of complications or will deteriorate and require hospitalisation. GPs need to be able to differentiate between these groups and recognise the symptoms and signs requiring more active intervention. Guidance from NICE on the diagnosis, assessment and management of diarrhoea and vomiting in children under five provides a synthesis of evidence to aid GPs in the process.It also challenges some of the popular lay and professional myths that have developed around the management of gastroenteritis. [With external links to the evidence base]

Early intervention is key in juvenile idiopathic arthritis

27 Aug 2009Paid-up subscribers

Juvenile idiopathic arthritis (JIA) is one of the most common chronic diseases of childhood. The annual incidence in the UK is 1 in 10,000 children and the prevalence is 1 in 1,000. JIA occurs in all races and geographical areas and is more common in girls. The age of onset peaks between three and six and then again around adolescence. As most children with JIA will first present to primary care, GPs have an important role in diagnosis and management.[With external links to the evidence base]

GPs have a vital role in recognising child abuse

13 Aug 2008Paid-up subscribers

What symptoms and signs might indicate child abuse or neglect? What are the referral pathways for child abuse? When should social services be involved?

Meningococcal disease warrants prompt referral

13 Aug 2008Paid-up subscribers

What are the key features of invasive meningococcal disease? How should suspected cases be managed? Has vaccination been effective?

Recognising childhood neuropsychiatric disorders

01 Aug 2007Paid-up subscribers

In the most recent comprehensive survey of the mental health of children in the UK, psychiatric diagnoses were present in 7.7% of boys and 5.1% of girls aged five to ten years. These figures do not include some important disorders (for example of motor function) that overlap and merge with the psychiatric conditions, so they probably underestimate true prevalence.