Assessment in Primary Care
This article describes the expected health needs of people with intellectual disabilities in the community and how best to identify and address these needs.
Harriet Slater (UK), Michael Kerr (UK) and Penny Blake (UK)
For many people with intellectual disabilities, the presence of ill health may impair their ability to achieve the best possible quality of life. The attainment of a good standard of health (at least as good as the rest of the population) is a reasonable goal. Primary care teams are central to the provision of good-quality healthcare. This provision is based on an ability to assess, investigate and manage a range of common and complex conditions, which requires an awareness of the specific needs of this population.
Community prevalence of intellectual disability
In England approximately 1.2 million adults are living with a learning disability; with an estimated total adult population prevalence of around 2%. The majority of people with a learning disability have a mild intellectual disability, around 80-90%, with prevalence rates decreasing significantly as the severity of the learning disability increases i.e. only 0.3-0.4% have a profound learning disability. A 2015 survey of general practices has found that only 4.4 people in every thousand patients has an intellectual disability, which represents only 23% of the estimated total population of adults in England with a learning disability. The discrepancy highlights the difficulty of identifying people with intellectual disabilities in primary care settings. The remaining ‘hidden majority’ of patients, who are not known to and do not use specialist learning disability services, can still experience significant healthcare and support needs.
Health needs of people with intellectual disabilities
People with intellectual disabilities suffer from the same range of morbidity as the general population, and thus, on one level, have the same primary care needs as the general population. These include:
- the treatment of acute and chronic illness
- appropriate referral to hospital or elsewhere
- health promotion.
People with intellectual disabilities also have specific additional needs:
Key primary healthcare needs of people with intellectual disabilities
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People with intellectual disabilities suffer from common morbidities:
People with learning disabilities as a group, have much greater health needs than the general population; however, the range of morbidities is the same as in the general population. Identification and treatment are usually more complex, due in part to associated difficulties with communication, which leads to under-recognition of common disorders.
Certain conditions are more common in people with intellectual disabilities:
Figures vary for the prevalence of the common comorbidities in people with intellectual disabilities, such as epilepsy, sensory impairments, respiratory problems, incontinence, behaviour problems and psychiatric illness. A summary of the recent literature is given below. These conditions are not unique to people with intellectual disabilities; however, they often occur more often or more seriously than in the general population and so are an important part of any assessment in this population
Summary of the Main Health Needs for Patients with a Learning Disability
Cardiovascular
Coronary heart disease remains the leading cause of death amongst both people with a learning disability and those without. It is significantly less prevalent in patients with a learning disability compared with the general population, 1.1% vs 3.2%; however, rates are expected to rise due to increased longevity and lifestyle factors associated with community living. Heart failure rates are higher than the general population, although this is to be expected as many conditions associated with a learning disability can cause either congenital health abnormalities or progressive damage to the heart e.g. inherited metabolic disorders. The overall prevalence of heart failure in patients with a learning disability is low, 0.85%; nevertheless specific groups are at much greater risk. For example, almost half of all patients with Down’s syndrome have a congenital heart defect, which may predispose to heart failure.
Stroke and Transient Ischaemic Attacks are seen in 1.7% of the learning disability population, which is slightly above the expected rate for the general population. The risk of experiencing a cerebrovascular event at a younger age (<35 years) however, was 10 times greater for patients with a learning disability.
Respiratory
Respiratory diseases commonly occur in patients with a learning disability and are a leading cause of death. Large studies have shown an increased prevalence of asthma in patients with a learning disability, 8.4% vs 6%, which equates to a 40% increased risk. Chronic obstructive pulmonary disease (COPD) rates are in fact lower, 1% vs 1.8%. There is limited research regarding smoking prevalence in people with a learning disability compared with the general population; however, people with a learning disability may share many of the socioeconomic risk factors for smoking.
Oral health
In terms of oral health, 33% of people with a learning disability have dental disease, which can be due to a multitude of factors such as comorbid gastrointestinal or systemic illnesses, impaired understanding of good oral hygiene, sensory difficulties, poor dexterity, poor communication of dental discomfort and barriers to accessing dental care. This risk is increased to 80% for those with Downs’s syndrome.
Gastrointestinal
Dysphagia affects <8% of patients with a learning disability, of which 40% will experience recurrent chest infections. Aspiration pneumonitis causes 3.4% of deaths and is potentially avoidable. Dysphagia is also associated with the risk of sudden death from choking and with malnutrition and dehydration in underweight patients. The cause could be neurological or anatomical, secondary to a developmental abnormality. Assessment by a GP or speech and language therapist is normally the initial management. Dysphagia guidelines have recently been published by the Royal College of General Practitioners. Additionally, Public Health England has recently published guidelines on the practical issues with weight management for patients with a learning disability.
Gastroesophageal reflux disease (GORD) affects 6.8% of patients with a learning disability. Those at higher risk are patients with cerebral palsy, scoliosis, or those being treated with anticonvulsants or long-term benzodiazepines. It can commonly affect sleep and behaviour and is a risk factor for oesophageal cancer.
Constipation is a common problem for patients with a learning disability, with an unpublished study reporting a prevalence rate of 17-51% in adults with learning disability living in supported accommodation. The prevalence for patients in institutional settings is higher, with rates of 69% seen in international studies. Contributory factors include a lack of exercise, a low fibre diet and medication side effects. It has been identified as a common cause of challenging behaviours and avoidable hospitalisation.
Endocrine
Recent data extraction from GP information systems in England show that people with a learning disability are at an increased risk of developing both type 1 and type 2 diabetes. Type 1 diabetes is commonly associated with Down’s syndrome and the prevalence in the learning disability population is 0.7%, representing a 50% increased risk. Additionally, 6.4% of people with a learning disability had type 2 diabetes, representing a 40% increased risk. Obesity is a common risk factor for type 2 diabetes and is common in patients with a learning disability, 38.4%. Possible reasons for higher obesity rates in patients with a learning disability include a lack of information or access to healthy foods, high inactivity levels or side effects from antipsychotics, which are frequently prescribed in this population. Inactivity is common and could be secondary to either physical factors (e.g. spastic quadriplegia), psychological factors (e.g. depression, apathy) or social factors (e.g. lack of finance, staff or transport in order to access exercise activities).
Hypothyroidism is prevalent in 7.9% of patients with a learning disability, which is almost 3 times the general population rate. It is commonly associated with certain syndromes associated with a learning disability, such as Down’s syndrome, Turner syndrome and congenital rubella. It is relatively easily treated and so routine screening should be performed on all patients with an associated syndrome.
Epilepsy
GP data from England indicated that 18.1% of patients with a learning disability had epilepsy, which is >25 times the general population prevalence of 0.6%. This is a lower prevalence compared to previous figures of 20-30%. The learning disability population is also more likely to have more complex epilepsy, involving multiple seizures and treatment resistance. The standardised mortality ratio for patients with a learning disability and epilepsy is 5-6 times higher than for those with epilepsy alone. In a recent mortality review, epilepsy accounted for 3.9% of all deaths of patients with a learning disability, of which some of these deaths were potentially avoidable.
Bone health
International studies show that osteoporosis and osteomalacia are more common in patients with a learning disability. Risk factors include immobility, low BMI, hormonal factors (e.g. hypogonadism, delayed puberty, early menopause), vitamin D deficiency and anticonvulsant use. This is associated with an increased risk of bone fractures and a lower threshold for sustaining injury.
Sensory impairment
Visual impairment is common and associated with age, severity of learning disability and specific syndromes e.g. Down’s syndrome. Prevalence in Dutch studies ranged from 2.2% in young adults, with mild learning disability and without Down’s syndrome, to 66.7% in older adults with profound learning disability and Down’s syndrome. In the UK it is estimated that 50,000 people with a learning disability have visual impairments and 15,000 are blind, which represents an increased risk of between 8-200 times.
40% of people with a learning disability have a hearing impairment, which is >4 times the general population risk. Again, this risk increases with age, severity of learning disability and specific syndromes.
Cancer
The prevalence of all neoplasms in patients with a learning disability is 0.8%, which is slightly lower than the prevalence in the general population. It is however worth noting that most cancers are more common in older persons and a lower proportion of patients with a learning disability are elderly. Due to the fact that some cancers have specific genetic or chromosomal risk factors (e.g. Down’s syndrome and lymphoma, tuberous sclerosis and brain and kidney cancers), the rates of younger people <35 years with cancer is higher in the learning disability population. The profile of cancer types distinctly contrasted from the general population however, with a significantly higher number of deaths from colorectal cancer, 2.4%, (standardised mortality ratio 2.4).
Palliative care services are designed to assist with the management of pain and distress caused by non-curative conditions, where the patient is likely to die within the next few weeks or months. A review of GP data in England identified twice as many patients with a learning disability as being in need of palliative care, 0.6% vs 0.3%. Up to 30% of Clinical Commissioning Groups (CCGs) had no record of any patient with a learning disability receiving palliative care, indicating a barrier to learning disability patients accessing palliative care services.
Mental Health and Challenging Behaviour
Point prevalence of mental illness in people with a learning disability is approximately 35-41%. The prevalence rates for specific diagnoses, such as anxiety and depression, can vary widely but are generally considered to be either the same or slightly higher than general population. Some studies suggest that the prevalence of severe mental illness such as schizophrenia and bipolar affective disorder could be <8 times as prevalent compared with the general population; however, large variations in prevalence rates exist. Dementia is also more common in people with a learning disability with prevalence rates for older adults, aged over 65 years, with a learning disability being 22% vs 6%. Down’s syndrome is particularly associated with an earlier-onset Alzheimer’s dementia, where patients will start developing symptoms 30-40 years younger than the general population. Baseline cognitive assessments are essential tools for detecting an early diagnosis of dementia in this particular population, where the baseline functioning is low, and many patients may benefit from anti-dementia medications in order to prolong their functioning and quality of life.
The prevalence of challenging behaviours in patients with a learning disability is 10-15%, although specific syndromes can have rates of self-injurious behaviours of 45-93%, due to the specific behavioural phenotype of the syndrome. Prevalence of challenging behaviours is greatest amongst people with learning disabilities who also have additional visual or hearing impairments, sleep disturbance and mental health problems. In any patient presenting with a new or an escalation in challenging behaviour, the causation should be fully investigated, which could be multifactorial. Physical causes include an underlying physical illness or pain, (including common causes of pain such as gastroesophageal reflux, otitis media, dental pain and constipation), allergies, sleep disturbance and side effects from medication. Psychological causes commonly include anxiety, depression or dementia and environmental causes commonly include a change in routine or staffing.
Conditions that are commonly seen in specific syndromes associated with intellectual disability
Certain syndromes that cause intellectual disability can be particularly associated with an increased risk of specific morbidity, including the following two examples:
- Down's syndrome is associated with increased risks of cardiovascular disease, respiratory disease, thyroid disorders, Alzheimer's disease, leukaemia and ear and eye problems.
- People with fragile-X syndrome have increased connective tissue disease leading to joint laxity and cardiac abnormalities (80% of adults have mitral valve prolapse). In addition, disorders of communication (e.g. cluttering of speech, social shyness) are more common.
Other examples include:
Health Condition | Syndrome |
Congenital heart disease | Down’s syndrome, Williams syndrome |
Early onset dementia | Down’s syndrome |
Hypothalamic disorders | Prader-Willi syndrome |
Obesity | Bardet-Biedl syndrome, Cohen syndrome, Down’s syndrome, Prader-Willi syndrome |
Sleep problems | Williams syndrome, Down’s syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome |
Mental health and Challenging Behaviours | Cornelia de Lange syndrome, Cri du chat syndrome, Fragile X syndrome, Lesch-Nyhan syndrome, Prader-Willi syndrome, Rett’s syndrome, Smith-Magenis syndrome, Velocardiofacial ‘de george’ syndrome, Williams syndrome |
Increasingly, knowledge of these specific patterns of illness will guide the management of healthcare for these groups.
Intellectual disability is associated with early mortality
Whilst life expectancy overall is improving, people with intellectual disabilities continue to have a reduced life expectancy compared with the population as a whole. A report of the 2013 Confidential Inquiry into Premature Deaths of People with Learning Disabilities (CIPOLD) found that the median life expectancy for people living with a learning disability was 65 years for men and 63 years for women (13 and 20 years younger respectively than for the general population). A 2015-16 UK mortality review found that people with a learning disability had a Standardised Mortality Ratio (SMR) of 3.18 compared with the general population.
The commonest causes of death for people with a learning disability were cardiovascular (22.9%, SMR 2.8), respiratory diseases (17.1%, SMR 4.9) and cancer (13.1%, SMR 1.1). In 2014 the national influenza vaccination programme started offering an annual influenza vaccine to all adults with a learning disability, in recognition of their increased risk of mortality associated with respiratory illnesses.
CIPOLD found that 42% of the deaths were deemed to be premature, with common underlying factors being difficulties with identifying needs and making timely diagnoses, and difficulties in providing appropriate care and treatment in response to changing needs. National strategies to improve health outcomes include the introduction of the annual health check in 2008-9 and the use of tools such as a hospital traffic light ‘passport’ system which contains personal information about the patient which can be communicated easily with all clinical staff providing care. Other strategies have included looking into ways of better identifying that a patient has a learning disability, both in primary and secondary care, and even adapting the hospital’s early warning system charts for physical observations so that the care for a medically unwell patient with a learning disability can be escalated quicker.
Predictors for early mortality include:
- A history of feeding difficulties (at any age)
- Immobility
- Epilepsy
- Down's syndrome.
Sudden unexpected death in epilepsy (SUDEP) is a potentially preventable cause of early death. Primary care clinicians play a key role in ensuring individuals with epilepsy are given advice on risk reduction and in referring to specialist services to maximize epilepsy control. All people with epilepsy should have a SUDEP risk reduction plan.
Meeting health needs from primary care samples
Studies of community-based populations of people with intellectual disabilities have uncovered three main areas of deficit in care delivery.
1. Untreated, yet treatable, medical conditions
Most individuals have a range of conditions, which would normally be self-presented to the GP. These include simple conditions such as overproduction of earwax (which is common in Down's syndrome) or dermatitis, and more serious problems such as breast lumps or major cardiac arrhythmias. They also frequently have eye disorders, such as cataracts and squints, which can benefit from a referral to a specialist.
2. Untreated specific health issues related to the individual's disability
Known health needs are often not addressed. A common example is that many people with Down's syndrome do not receive regular thyroid screening in spite of the high frequency of hypothyroidism. There is now a thyroid register in some parts of the UK, which should include all people who have a diagnosis of Down’s syndrome to ensure that they have regular screening of their thyroid function. The geographical variation throughout the country however does mean that not all patients will have this service and they are therefore reliant on the knowledge of their general practitioner to ensure they have the requisite testing, although the Cardiff Health Check also enquires about whether a thyroid check has been performed.
3. A lack of uptake of generic (non-targeted) health promotion
People with intellectual disabilities receive fewer health promotion measures than their non-disabled counterparts. These include relatively simple procedures such as weight and blood pressure measurement and more complex processes such as mammography and cervical smears. For example, at present uptake for cervical screening in women with a learning disability is approximately half that of the general population, 30.2% vs 73.5%. Breast cancer screening uptake is marginally better with 50% of women with a learning disability undergoing screening vs >66% of the general population. Fortunately, however, mortality rates from cervical and breast cancer were not significantly different compared with the general population. Clinics have been set up in various parts of the country to try to improve health promotion, such as well-man and well-woman clinics for individuals with learning disability. There is however no national consensus for this and many patients would anyway be best placed linking in with generic health programmes. Again, the simple solution to this issue is to receive an annual health check; the Cardiff Health Check covers all areas of health promotion.
With regard to cancer survival, prognosis is aided by early diagnosis and treatment. People with a learning disability are less likely to be informed about potential early warning signs of cancer and may have more difficulties with negotiating the healthcare system in order to access early medical opinion, placing them at increased risk of late diagnosis and poorer prognosis. Ideally patients with a learning disability should access national screening programmes; however, reasonable adjustments may need to be made, such as allocating additional time and resources in order to facilitate a patient’s ability to understand, consent and comply with intimate examinations such as cervical screening and mammography. Several regions have compiled easy-read information booklets to help patients understand what will happen at screening tests. Additionally, there may be other practical difficulties with specific screening investigations, such as a patient having to rely on a carer to help them with obtaining a usable faecal occult blood sample and sending this back to the bowel cancer screening service.
Barriers to healthcare
The discrepancy in primary healthcare received by people with intellectual disabilities is likely to arise because of a number of barriers. These can be defined as:
- Mobility and sensory impairment
- Behaviour problems
- Difficulties with communication
- Inadequate knowledge and attitudes of staff
- Reduced access to specialist services
- Lack of time and resources
Mobility
Lack of mobility can make it difficult to access health services. People with intellectual disabilities are unlikely to have their own transport and often need to rely on others to take them.
Sensory impairment
This may reduce patients' ability to attend appointments on their own and increase distress during consultations and physical examinations because communication and comprehension are reduced.
Behaviour problems
It is difficult to judge the prevalence of behaviour problems that may impair the physician's ability to examine or treat a patient. An individual who is usually compliant may be extremely distressed by a visit to the doctor and express this inappropriately, making an examination very difficult. Behaviour problems may also have an impact on the diagnosis itself, e.g. by the behaviour itself being mistaken for physical or psychological ill-health.
Communication
People with intellectual disabilities are often reliant on their family or carers to communicate their health needs on their behalf, and this is a major barrier to care. Even when a carer knows the person well, it may be difficult to detect a health problem when the individual's communication skills are limited. In addition, a minority of patients with a learning disability may have depressed pain responses, making the detection of an underlying pathology (e.g. fracture) more difficult for both clinicians and carers, particularly if the patient is non-verbal. In a practice setting, the GP needs accurate, reliable information on which to make clinical decisions, but this is not always available when the patient is accompanied to their consultation by a member of a rapidly changing staff team.
Knowledge, attitudes and accessing specialist services
GPs list a lack of knowledge and confidence in managing conditions or illnesses among the top five barriers to care. The situation is compounded by major deficiencies in the knowledge of disability-related health issues. A further problem is a lack of awareness of appropriate specialist support services, and their availability. Many of the needs assessed require specialist support such as behavioural support teams or psychiatric or neurological assessment.
Time and resources
A study showed that GPs would be willing to see more people with intellectual disabilities if this brought greater remuneration. With the introduction of the Annual Health Check this has to some extent been achieved. In turn, it is hoped that the yearly medical screening will be a proactive measure to detect and treat any health problems at an early stage.
Health Checks in primary care
Annual health checks play a central role in primary health care delivery for patients living with a learning disability. In England and Wales, the recommended check is the Cardiff Health Check, which research has shown produces substantial increases in health promotion and disease finding activity. Practices however do not have to be involved in the scheme and so not all patients will receive this service from their family doctor. The numbers of people receiving the Annual Health Check is increasing year on year; however, recent figures suggest that the uptake is still only around 43.2%, with wide geographical variability and better uptake rates seen in patients aged over 45 years.
Assessment
Central to the assessment of people with intellectual disabilities is recognition of the potential morbidities and likely problems the physician may meet in clinical practice. It can be daunting to face an individual with a novel symptom and a complex clinical history, who is uncommunicative. The key to assessment is following an appropriate structure, the main components of which are:
- assessing the initial complaint
- recognizing and assessing comorbidity
- providing health promotion.
Delivering health assessment
The comprehensive assessment is essential for enabling people with intellectual disabilities to achieve the best possible health. Research has shown that attempting to deliver comprehensive care in the setting of 'as usual' practice consultations is unsuccessful. In order to deliver an assessment successfully the primary care team needs to prepare by addressing two factors, practice organisation and clinical competencies.
Practice organisation
Primary care teams will inevitably need to re-organise the delivery of care in order to make ‘reasonable adjustments’ so that people with a learning disability will have equitable access to medical care. Such a change must be appropriate to the needs of patients, families and the professionals concerned, and must tie in with the concurrent changes in healthcare policy for people with intellectual disabilities. Areas of specific practice change could include:
- Practice register
To provide an optimum service for their learning-disabled patients, practices need to be able to identify individuals with an intellectual disability on their lists and establish a practice register of them. With the current electronic records general practices use, it is easily possible to achieve this. Systems can be devised that regularly recall these patients and also flag up any particular problems which an individual may have that may make appointments more challenging, for example communication issues. If a longer appointment is then envisaged in order to overcome this difficulty, this can be arranged.
- Recall and audit
People with intellectual disabilities will need to be recalled on a regular basis to ensure that health assessment has taken place and that actions suggested are carried out. In particular, uptake of health promotion should be assessed.
- Contact with other services
Practices will need to ensure that contact telephone numbers and referral patterns to intellectual disability services and health facilitators are established and recorded.
- Accessible Information
In 2016 NHS England produced an Accessible Information Standard which provided guidance for GP practices in order to improve communication with patients and ensure that all information provided to patients is in an accessible format. For patients with a learning disability, this could include offering for any correspondence to be in an easy-read format or encouraging the patient to use an advocate during consultations.
Clinical competencies
In addition to the organisational changes needed within primary care, clear clinical competencies are needed to ensure appropriate assessment can take place. Learning disabilities was identified as a clinical priority by the Royal College of General Practitioners between 2010-12 and so their website contains useful resources for primary care clinicians to utilise. Members of the primary care team will need to ensure that they are competent in the use of tools such as the Annual Health Check.
- Defining specialist input
The primary care team should know when the needs presented by people with intellectual disabilities are beyond the team's clinical competencies. This is particularly important for conditions such as epilepsy where a very high level of seizures may be accepted, when in fact specialist referral is necessary.
- Communication and ethics
Since the introduction of the Mental Capacity Act 2005 there is now a legal framework for assessing a person’s capacity. There are also guidelines for what should be done when a person lacks capacity and how treatment should be decided in such circumstances. It is the responsibility of the professional performing the procedure or prescribing the treatment, to assess the person’s capacity. It is therefore essential that all practice members have a good knowledge of the legal framework and are trained in capacity assessment. In order to obtain some information, it may be necessary to communicate via non-verbal methods such as sign language and as such it is useful if the primary care team can access someone who is able to communicate reliably and effectively with the individual.
- Specific competencies
The team may choose to develop specific competencies (e.g. in epilepsy, Down's syndrome or other comorbidities) to enhance their assessment skills. Some practices have an identified doctor within the team who will see all the patients who have a diagnosis of learning disability.
Conclusion
The focus of healthcare for people with intellectual disabilities is now the primary care team. This brings with it certain responsibilities. The most important is that while primary care is the 'point of first call' for people with intellectual disabilities, providing good-quality healthcare involves more than just brief assessment of presenting problems. Primary care assessment needs to be a proactive, structured process that addresses the generic and specific needs of this population while allowing appropriate referral to specialist services.
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This article was first published in Psychiatry; Volume 2:9, September 2003 and reprinted with the kind permission of The Medicine Publishing Company.
This article was updated in 2011, and further updated and revised in 2017.
Dr Harriet Slater, Professor Mike Kerr and Dr Penny Blake are based at the Learning Disability Directorate, Tresedar Way, Caerau.