Autism, like most psychiatric disorders, covers a spectrum of severity from severely disabling classic autism to milder forms of Asperger’s syndrome which border on normality. The term autism spectrum disorder (ASD) includes autism, atypical autism and Asperger’s syndrome. Some parents consult their GP worried that their child might have autism. Others may attend with a range of concerns that might point to the condition such as problems with hearing, vision, hypersensitivity to sensory stimuli, behaviour management, language impairment or repetitive behaviour. Autism conditions often co-exist with neurological disorders (particularly those including epilepsy), and more than 300 syndromes which include autism have been described.The new NICE guidelines, launched in September 2011, cover children, from birth up to 19 years, on the autism spectrum and build on the guidance published by SIGN in 2007.ASD was once believed to be relatively rare but is now thought to occur in about 1% of children. There is certainly increasing demand for diagnostic services for children and young people. Whether the apparent increasing prevalence signifies an epidemic or an epidemic of discovery is debatable.

Common mental health disorders affect as many as one in six people in the community. The 2007 ONS household survey of adult psychiatric morbidity in England found that 16.2% of 16-64 year olds were suffering from an anxiety or depressive disorder. Of those 4.4% were diagnosed with generalised anxiety disorder (GAD); 3.0% with post-traumatic stress disorder (PTSD); 2.3% with major depression; 1.4% with phobias; 1.1% obsessive compulsive disorder (OCD); and 1.1% with panic disorder. The conditions are not mutually exclusive and the most common problem was mixed anxiety and depression, found in 9% of patients. The diagnoses were established through diagnostic psychiatric interviews with subjects screening positive in the survey.These disorders are even more common in primary care. The New Zealand Magpie Study found that 20.7% of people presenting to primary care had suffered a common mental health disorder over a 12-month period, compared with 14.8% in the community.

The average age at hip fracture is 83 for women and 84 for men, with around 80% of cases in women. The reported 30% mortality and 20% new institutionalisation rates at 12 months reflect the high prevalence of comorbidity and to some extent suboptimal management at the time of the fracture. With timely intervention and better clinical management many fractures can be prevented and even when they do occur their human and economic costs can be greatly reduced.  Prevention and management span a full spectrum of typical need from primary prevention through acute an rehabilitative management to secondary prevention and long-term and palliative care. Changing what happens in acute hospitals is fundamental to this challenge, but the achievement of seamless clinical continuity across primary, secondary and social care is equally important.

Cystic fibrosis (CF) is the most common fatal inherited disease in Caucasian people. Inheritance follows an autosomal recessive pattern. 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.

Ovarian cancer is the fifth most common cancer in women. The incidence has increased over the past 20-25 years, particularly in the 65 and over age group. The outcome for women with ovarian cancer is generally poor, with an overall five-year survival rate of less than 35%. The survival rates for women with ovarian cancer in the UK are significantly lower than the European average. Despite recommendations, published by NICE in 2005, on referral of patients with suspected cancer, the majority of women diagnosed with ovarian cancer are not electively referred via the ovarian cancer two-week pathway. They are often referred to the wrong specialty or present as emergencies. NICE has now published a clinical guideline on the diagnosis and initial management of ovarian cancer.

Seasonal allergic rhinitis (SAR) is a global health problem and affects 20% of the UK population. It is the main form of rhinitis in children whereas in adults it accounts for about a third of cases. SAR can have  a significant impact on patients' quality of life. It can lead to non-attendance and underperformance at school and work and results in substantial NHS costs. In children, it may affect GCSE results as the grass pollen season coincides with exams. SAR is a risk factor for the development of asthma and chronic rhinosinusitis which may be difficult to treat. As the major burden of allergic rhinitis is on primary care, GPs play a key role in the management of these patients.

The term men who have sex with men (MSM) encompasses a diverse group of men of all ages, ethnicities and cultural backgrounds. Their sexual behaviour is equally diverse: while some MSM have exclusively male partners, others have partners of both genders or identify themselves as heterosexual but have occasional casual sexual encounters with men. MSM may be involved in the commercial gay scene, may visit cruising environments in public places or may be in monogamous sexual relationships. There were an estimated 415,600 MSM aged 15-44 in the UK in 2007. The estimated prevalence of HIV in this group was 5.2%. Of 60,050 people aware of their HIV-positive diagnosis in the UK, 26,050 (43%) were MSM. A further 9,000 MSM in the UK are estimated to be infected with HIV but unaware of their diagnosis.

Generalised anxiety disorder (GAD) is a common condition, with a point prevalence of 4.4% among the adult population in England. It is characterised by a persistent, unfocused sense of threat, associated with symptoms of tension, autonomic hyperactivity and vigilance. Patients repeatedly overestimate the danger of physical or social harm, and at the same time underestimate their ability to cope. As a result, they worry excessively about a wide range of activities and life events, such as work, family issues, financial difficulties and health problems. GAD is a chronic relapsing condition, with a remission rate of only 38% after five years. It is associated with even greater impairment of occupational and social functioning than that associated with major depression, and has a significant impact on quality of life. However, around two-thirds of patients are not recognised in primary care and only a third of those identified by the 2007 household survey in England were receiving any form of treatment. Both in research and in clinical practice, there has been an excessive focus on depression to the detriment of the anxiety disorders. This is unfortunate in view of the high prevalence of GAD, its substantial impact on functioning and its association with chronic physical health problems. It is to be welcomed that this imbalance is now being addressed.

Currently the vast majority of people with familial hyper-cholesterolaemia (FH) in the UK remain undiagnosed, probably 85% of the predicted 120,000 cases.In FH families, patients sometimes feel guilty about passing on a defective gene, and there are often concerns about confidentiality surrounding genetic diagnoses. However, in general most people find that knowing the cause of the early heart disease in their family and, more importantly, that the risk can be very significantly reduced by adherence to statins, means that anxiety is easily dealt with and is very shortlived.  It is important that all members of the primary healthcare team have a good working knowledge of the simple Mendelian inheritance of FH, and can explain the elevated risk and how it can be reduced through medication and lifestyle changes.

The condition now named complex regional pain syndrome (CRPS) has been recognised for many years, and known by many terms, although the adoption of the current taxonomy is recent. The condition typically starts with an injury to an extremity, which is often seemingly trivial, followed by immobilisation, such as an ankle sprain or Colles' fracture. However, instead of the expected resolution of symptoms, persistent pain and dysfunction develop. recent attention to its key features by international authorities should allow the diagnosis to be made with greater confidence by non-specialists. Management should be based upon general principles of neuropathic pain treatment, combined with aggressive physical rehabilitation. Many cases will resolve spontaneously, or with simple measures. For severe or resistant cases, early specialist intervention is indicated.

NICE has updated its guideline on the management of chronic heart failure. The principal changes from the 2003 guideline include more directive advice on how to improve the quality and timeliness of diagnosis. There is greater encouragement to use beta-blockers, more emphasis on rehabilitation and better access to specialist advice - particularly at the time of diagnosis, admission to hospital, and where symptoms do not respond to first-line therapy with diuretics, ACE inhibitors and beta-blockers. 'A new recommendation is that patients with stable heart failure should be offered a supervised group exercise-based rehabilitation programme designed for such patients. This should include a psychological and educational component, and could be incorporated within an existing cardiac rehabilitation programme. This recommendation is likely to be picked up in the, as yet unpublished, ‘Commissioning Pack' for Cardiac Rehabilitation, and will lead to pressure locally on services to include heart failure patients. It is helpful that NHS Improvement has identified both heart failure and cardiac rehabilitation as priorities for 2010/11, but ultimately much of the responsibility for commissioning this new service will fall to primary care.'

 

Deep periprosthetic joint infection (PJI) is one of the most feared complications of hip and knee replacement surgery as it generally requires a combination of surgical intervention(s) and prolonged antibiotic therapy. Patients with previous joint replacement have a lifetime risk of secondary PJI after other common infections. The lifetime risk has been reported to be up to 2% at 20 years after total hip arthroplasty taking into account infection from a subsequent revision procedure as well. Streptoccoccus spp. are commonly implicated in these infections. Early recognition and prompt treatment of soft tissue, dental and respiratory infections may also prevent secondary PJI. Acute haematogenous PJI should be suspected if a patient with a joint replacement develops pain in that joint after infection elsewhere. If PJI does occur in this context, optimal outcomes are achieved by early diagnosis, referral and treatment.

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.

Neuropathic pain is relatively common. One large European study found a prevalence of 6%. The diagnosis and treatment of long-term pain has received considerable attention recently. Long-term pain is pervasive and costly. There is an interrelationship with psychosocial problems and there are often difficulties in clarifying the diagnosis. Most treatment for long-term pain, including neuropathic pain, should be provided at the primary care level, with support as necessary from specialist services.

In England in 2008, 66% of men and 57% of women had a BMI >25 kg/m²; within this 24% of men and 25% of women were obese with a BMI >30 kg/m². The relative risk of diabetes in overweight men is 2.40 and in obese men 6.74 compared with men with a BMI in the normal range. The respective relative risks in women are 3.92 and 12.41.There is a 40% increased risk of death from cardiovascular disease for every 5 kg/m² increase in BMI above 25 kg/m². While trying to tackle obesity may seem like very hard work for little gain, having a structured approach to dealing with overweight and obese patients will make it easier to broach the subject and enable evidence-based advice to be given that will be helpful to all patients.

The simplest way to prevent passive exposure of children to tobacco smoke is to encourage and support their parents to quit smoking. For parents and other family members who will not or cannot quit smoking, the next best course of action is to make the home environment in which children live completely smoke-free. Primary care health professionals, in common with all health professionals, therefore need to engage with smoking prevention and cessation initiatives at all levels, but particularly in all contacts with individual patients who smoke, or family members who smoke. As educators, GPs and practice nurses can explore with GP and nursing trainees the importance of smoking cessation in preventing disease and improving health, an element that is barely covered in the traditional organ-based medical school curricula.

There are clinical descriptions of children with attention disorders dating back to the late 18th century. ADHD is the term most widely used to cover a group of common, chronic neurodevelopmental disorders characterised by developmentally abnormal and disabling levels of restlessness and overactivity (usually combined with impulsiveness) and/or inattention. ADHD is multifactorial in origin, with a strong genetic component and is four times more common in boys than girls. The prevalence of ADHD is at least 5% and that of the most severe form i.e. hyperkinetic disorder (HKD) 1-2%. However, a survey of services for ADHD in Scotland found that only 0.6% of children and adolescents were receiving treatment.

GPs play a key role in early recognition of stroke symptoms, thus ensuring that patients receive appropriate acute treatment, early initiation of secondary prevention, lifestyle advice and referral to exercise schemes. It is becoming increasingly recognised that stroke is a chronic disease. So GPs will also be central to managing ongoing risk of recurrent stroke and identifying and managing long-term post-stroke problems.

For patients with  a chronic condition and depression the prognosis is thought to be  worse. Comorbid depression is associated with increased pain, greater functional impairment and reduced quality of life. Depressed patients may lack the confidence to self-manage their condition, increasing the risk of long-term complications.

HIV is now a treatable medical condition. In all, 77,000 people are known to be infected with HIV in the UK. However, 28% are unaware of their infection and are therefore unable to access treatment. They are also at risk of unwittingly passing the virus on to others. Many patients who present late to care have been to see their GP in the months or years leading up to their diagnosis but have never been tested for HIV. In the UK National guidelines on HIV testing have recently been published by the RCP to help improve provision and uptake of HIV testing in both primary and secondary care settings.

The age-adjusted prevalence of metabolic syndrome was approximately 25% of the US adult population in a national survey published in 2002. In a community-based  study in the US, the relative risk of developing diabetes over 11 years among obese patients was increased 10-fold in those with the syndrome, and the risk of developing CVD was increased 2-fold. The prevalence of the syndrome in adults in the UK is of the order of 15-20%.

The presenting symptoms and signs of severe anaphylaxis and life-threatening asthma can be the same. If the patient has asthma-like features alone, the BTS/SIGN asthma guidelines should be followed. The incidence of anaphylaxis is increasing. Early recognition of life-threatening airway, breathing or circulation problems and treatment with IM adrenaline is essential. All patients with confirmed anaphylaxis or suspected anaphylaxis should be referred to an allergy clinic.

Palliative care is the proactive and holistic management of patients with significant illness that is unresponsive to curative treatment. The primary care team can play a vital role in palliative care.¹ GPs will see patients at all stages of their illness, from the initial symptoms, through the early stages when although a poor prognosis has been given the patient may feel reasonably well, up to death. The aims for primary care teams are those set out in the Gold Standards Framework for palliative care.

The management of rheumatoid arthritis (RA) has undergone major changes over the past decade. GPs have a pivotal role to play particularly with regard to early identification of disease and rapid referral. In an average GP practice of 10,000 patients at least 5 new cases of RA will be seen per year not including other types of inflammatory arthritis. As the prevalence is 1% GPs may have around 100 patients with RA on their list. The age range most commonly affected by RA is 30 to 70 years.^1,2 The old paradigm of 'start low, go slow' has been rejected and a new therapeutic approach has been developed with early, intensive intervention in all patients with RA or suspected RA. Furthermore, in patients with definite RA, regular review with tight control using predefined disease activity measures has been found to improve outcomes.

Counter pulsation is a therapy developed from sound physiological principles, widely used in cardiothoracic and interventional centres in the form of intra-aortic balloon pumping (IABP). It has now been developed externally as enhanced external counter pulsation (EECP). EECP is a non-invasive, safe and well tolerated therapy, with very few contraindications.  Currently, EECP is used predominantly in patients with severe angina, who are at high risk and are not suitable for revascularisation. It provides a therapeutic and supportive approach to managing such patients regardless of age and co-morbidity including those with stable heart failure.

The prevalence of shoulder disorders has been reported to range from 7 to 36% of the population accounting for 1.2% of all GP consultations^.1 Shoulder pain has been said to be the second most common musculoskeletal complaint presenting in primary care. On average GPs are consulted approximately seven times each week for a complaint relating to the neck or upper extremity; three of these consultations will be for new complaints or new episodes.

In the 1990s, patients in the UK had a greater risk of stroke-related mortality and disability than elsewhere in Europe. Overall standards have risen.In July 2008 NICE published guidelines for the management of acute stroke and TIA. At the same time, the Intercollegiate Stroke Working Party at the RCP produced guidance covering the rest of the stroke pathway, including secondary prevention, rehabilitation and the management of long-term stroke-related disability.

It is estimated that heterozygous FH affects 1 in 500 people in the UK but the vast majority remain undiagnosed, with only 15,000 patients currently identified. It can result in significantly raised LDL cholesterol levels and if left untreated, patients have a high risk of premature CHD, with a >50% risk in men by the age of 50 and >30% in women by the age of 60. If treated early, most patients will have a normal life expectancy.

How should asthma be diagnosed? What is the role of long-acting beta agonists? How can difficult asthma be managed?

What is the role of allergy in atopic eczema? When should topical steroids be used? How can infected eczema be treated?

Obsessive-compulsive disorder (OCD) is common, chronic and debilitating. The estimated worldwide prevalence is 1-2%. In the UK alone there are estimated to be more than a million people with OCD, many of whom are unaware that it is a treatable condition. OCD is characterised by intrusive unwanted thoughts (obsessions) and ritualistic behaviours (compulsions).It can occur in children as young as six, and most patients who develop OCD will have symptoms in childhood or adolescence. Some develop OCD in adult life, and there is a subgroup of patients who develop it for the first time in old age. There is an equal incidence in both sexes.

Which breast conditions can be managed in primary care? Which patients should be referred to secondary care? When is a family history of breast cancer significant?

How is hypothyroidism classified? Who is at risk? How is it recognised?

Who is at risk of misusing drugs? What are the treatment options? How should long-term misuse be managed?

How is sickle cell disease diagnosed? What are its clinical consequences? What treatments are available?

Is pyrexia significant? Should children be given antipyretics? What are 'red' symptoms?

How are GPs involved in managing drug addiction? How can patients be assessed? Which treatments are effective?

How common is this condition? How can it be recognised? What measures are used to remove excess iron?

Which groups are at most risk of STIs? What types of intervention make a difference? What can change patient behaviour?

What are the presenting features of hyper- and hypo-parathyroidism? Which patients should GPs refer to hospital? What complications occur after surgery?

What is the risk of transformation to leukaemia? How do you distinguish MPDs from other conditions that present with an abnormal FBC? How is genetic screening carried out?