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A screening programme for adults with Down's syndrome

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Backer, C., Jervis, N. (2007) Health conditions and health screening in adults with Down's syndrome. nursingtimes....

ABSRACT Backer, C., Jervis, N. (2007) Health conditions and health screening in adults with Down's syndrome.

People with learning disabilities, especially those with Down's syndrome, have a higher level of health needs than the general population. In Down's syndrome they are more likely to experience problems involving the heart, thyroid, sensory impairment, diabetes and epilepsy, and they have an increased risk of developing dementia. This article discusses the Manchester baseline dementia screening project for people with Down's syndrome, which provided evidence on the prevalence of these health conditions and identified a lack of health screening for people with Down's syndrome in the Manchester area.

Prevalence of medical conditions in people with Down's syndrome

Certain medical conditions are more prevalent in people with Down's syndrome (DS) than in the general or in other learning disability populations. These conditions can be difficult to identify and can present as behavioural problems. Because of this, health checks in these areas are essential (Smith, 2001).

It is important to remember that some people with DS do not suffer from any adverse health conditions and the average life expectancy for people with DS has now increased to 60-65 years of age with advances in medical care (Seyman, 1995). Given this increase in longevity, some conditions associated with increased age have become more apparent in this group, for example Alzheimer's disease.

Some of the conditions identified that have an increased prevalence in people with DS when compared to the general population are:

  • Heart problems: 40%-50% of babies with DS are born with heart defects, half of which require surgery. It has also been found that in adulthood over half of people with DS can develop heart disease. Of these, 57% develop mitral valve prolapse and 17% valvular regurgitation (Smith, 2001).
  • Thyroid disorders: Hypothyroidism occurs in 10%-40% of people with DS. It is particularly important to identify this condition as it can be misdiagnosed as dementia (Prasher, 1995) because of similar symptoms such as lethargy, lack of concentration, weight gain, dry skin, memory impairment and intolerance to cold. People with DS also have a slightly higher incidence of hyperthyroidism than the general population.
  • Hearing impairment: In children with DS, the most common cause of hearing impairment is a condition called glue ear. Conductive and sensorineural hearing loss (nerve deafness) can also occur in up to 70% of people with DS and may not develop until early adulthood (Evenhuis et al, 1992). These hearing impairments are also likely to affect communication skills and the sensory deprivation associated with hearing loss may contribute to delirium.
  • Visual impairment: There is a high prevalence ofsquints in people with DS and, if a squint is left untreated, a person's good eye may take over and the lazy eye can become blind. Cataracts can occur in up to 46% of people with DS, keratoconus occurs in up to 15% and 25%-43% of people with DS have refractive error (Prasher, 1994).
  • Diabetes: This is more common in young children with DS than their peers (2% compared to 0.1% of children up to 14 years old). Three-quarters of people with DS who have diabetes are insulin dependent. Diabetes has also been found to have a higher prevalence in adults with DS (Selby, 2001).
  • Epilepsy: By 50 years of age, 10% of people with DS have had a seizure. Medication is frequently used to control this (Down's Syndrome Scotland, 2005).
  • Alzheimer's disease: Research into the prevalence of dementia among people with DS varies widely. However, it is generally agreed that people with DS develop dementia of the Alzheimer's type earlier than the general population (Janicki and Dalton, 1999). Around 10% of those aged 40-49 years, 40% of those aged 50-59 (Holland et al, 1998) and 55% of those aged over 60 will have developed dementia (Turk et al, 2001). Care and treatment is similar to that of the general population, although the type of care and treatment for people with DS diagnosed with dementia at an earlier age needs to be addressed, such as whether a nursing home is age appropriate. It is accepted that there is a need for the development of services to ensure the needs of this at-riskpopulation are met.

Need for health screening

People with learning disabilities experience health inequalities compared with the general population (Cooper et al, 2006; Disability Rights Commission, 2006). At its most serious, this could result in people dying because they are not receiving the healthcare and treatment they need. This is highlighted in the Mencap (2007) report Death by Indifference.

People with learning disabilities also have a higher level of mental and physical needs and more unmet needs than the general population (Janicki et al, 2002). Research has indicated the need for coordinated health screening designed specifically to address the health needs of people with learning disabilities (Philips et al, 2004), although the long-term clinical outcomes of such screening are unknown.

The health needs of people with DS were also highlighted in the last government white paper for people with learning disabilities Valuing People (Department of Health, 2001). This stated that 'about a third of those with Down's syndrome may be expected to show clinical evidence of dementia' and 'the onset of dementia may be from 35 years of age or earlier and their health often deteriorates quite rapidly'.

People with DS present as having specific health screening issues and, although they should not be considered separately in terms of primary healthcare provision, they do present as an easily identifiable group in terms of audit and health promotion (Howells, 1989).

Several studies have looked at the healthcare needs of people with DS. Piachaud et al (1998) sent a health questionnaire to all people with DS over the age of 18 living in a London borough (54 people). The results found that of these 54, 19 people had had a check-up in the previous year, but almost a third of people had not seen the GP for over three years or did not know when they had last seen the GP. In addition, very few people had had a heart examination.

Some people who were known to have certain medical conditions through the register were either not reported to have these complaints by their carers or were not reported as receiving check-ups (for example, those with sensory impairments). Also, over half the people had not had thyroid screening in the previous three years, even though there have been strong recommendations that screening should be carried out in this area (Dinani and Carpenter, 1990).

Cooper et al (2006) looked at a health screening programme to help improve the health of people with learning disabilities. One year after this was put into place, sustained health gains were found for this group of people when compared to a control group. These gains included a higher level of new health needs being identified and met. In addition, a higher level of health promotion and monitoring needs were being met. In this study, the health screening intervention was carried out by a specialist liaison team within the primary care management structure, and it raises the question of whether the outcomes would have been different had the intervention been provided by the person's own GP. Further research in this area is needed.

The following health screening areas have been identified through research and from observed clinical need for people with DS.

Table 1: The recommendations for health screening for people with Down's syndrome

Screening area

Specific tests

How often a reassessment is needed



Two years







High myopia



Blood test for thyroid function




Six months


Cardiac examination



Monitor blood glucose level



Monitor behaviour



Monitor skin condition, such as dry/broken


How this screening need was met inManchester

The Manchester Learning Disability Partnership (MLDP) is a partnership between Manchester PCT and Manchester City Council, catering for approximately 1,400 people with learning disabilities. The MLDP employs approximately 650 staff, with three locality areas/community teams, residential services including short breaks and adult placement, day services and close links with independent providers.

Within MLDP, a Down's syndrome and dementia working group was established in 2002 due to an awareness of the increased prevalence of Alzheimer's disease and other health conditions in this population, and because it was felt the needs of this population were not being adequately addressed. The working group has multidisciplinary representation, that is, community nursing, psychology, occupational therapy, physiotherapy, speech and language therapy, care management and a representative from the commissioning team, to ensure the needs of people with DS are looked at holistically.

A screening project was set up to provide baseline assessments of skills, abilities and health needs for everyone over the age of 25 years with DS known to MLDP (135 people). It was hoped that this baseline screening project would help to identify unmet health needs such as those of people with conditions that might mimic the onset of dementia, as well as identify people who might be in the early stages of dementia. It would also assist services to plan for the future for this group.


Some 12 people with DS with a definite diagnosis of dementia were identified, along with 25 people with 'query dementia' who required additional assessment and health checks.

Various unmet health needs were also identified.

Health issue


with difficulty

Percentage needing

assessments or reassessments

Hearing impairment

Visual impairment

Thyroid problem

Dental problems



Skin problems

Cardiac problems

















Table 2: The health issues assessed in people with DS and whether these were being adequately addressed based on the above criteria for recommended health checks

From the above table, it is apparent that the two main health issues that were identified for people with DS are visual impairments (64%) and skin problems (61%). It was also apparent that most people with DS are not having regular health check-ups every year, as recommended. The three health areas where most people have not been assessed were found to be: thyroid (58%); blood glucose level (59%); and their heart (68%).

The health areas that were monitored closely were epilepsy and skin problems such as eczema and psoriasis, which may be because symptoms of these conditions are visual and can be identified easily. In most of the other areas, such as heart conditions, diabetes and thyroid disorders, symptoms can often be undetected, ignored or misinterpreted as something else. The above figures were looked at in more detail in relation to age.

Table 3: Percentage of people with DS needing health checks according to age

These figures highlight that as people come through the transition from children's services, most people with DS are still having regular health checks. However, as they get older and reach the age of 30, there is an increase in the number of people not having had assessments in most of the health areas identified above.















































Implications for people with DS known to MLDP

The results from this study are similar to that of the previous research discussed earlier (Piachaud et al, 1998) and therefore this highlights significant health assessment needs for people with DS.

For the people involved in the screening process, there appears to have been an increase in awareness of the health issues related to people with DS in general, and the project appears to have empowered families, carers and team members to ask for specific health checks for the person with DS from their GP. This has also happened through regular 'dementia awareness' training offered in this area by our service.

Raising awareness has led to various previously undiagnosed health issues being identified, which has resulted in an improved quality of life for some people with DS involved in the project. This factor alone has highlighted the need for repeated baseline assessments over time.

The ongoing social and healthcare needs of people with DS, with particular relevance to dementia, are now being addressed and this project has now been incorporated into general clinical practice. Also, planning for the future is beginning to take place with the commissioning team. The people who participated in this screening project will be followed up at various intervals depending on their age, so their health needs continue to be addressed.

From undertaking the screening project in Manchester, the following needs have also been identified:

  • Raising awareness for GPs. Our service has addressed this by sending out the information leaflet for GPs entitled 'It's your move: Down's syndrome and dementia' (Down's Syndrome Scotland, 2002) when concerns have been highlighted about a person and health checks recommended. This leaflet highlights the treatable conditions that can be confused with dementia, and the need for regular health checks and screening to identify such conditions
  • Ongoing support for families and carers. This has been addressed through the clinical work undertaken with people and through training. Providing training was a specific recommendation by the Healthcare Commission (2007; 2006). The organisation investigated services for people with learning disabilities provided by Sutton and Merton PCT and the Cornwall Partnership NHS Trust, where inadequacies were highlighted in many aspects of care.
  • Children's services to reinforce the importance of regular health checks throughout a person's life. Meetings have taken place with children's health services to address this area and the above findings have been presented with positive outcomes.
  • Monitoring through enhanced health action plans.
  • Monitoring through annual care management reviews.
  • Professional care pathways have been developed to address the above needs.
  • Links have been made with the 'Good health' subgroup in Manchester.

Implications for practice across the country

The results from the MLDP study and that of previous research undertaken highlight that there is clear room for improvement in addressing the health needs of people with Down's syndrome, especially as people age. This is also highlighted in Death by Indifference (Mencap, 2007), which reported on six cases of people of dying where healthcare needs had not been met.

Whether people's health needs should be addressed through screening projects is still a debated issue (Sims, 2002). However, this approach has been found to be useful in Manchester and in other areas (Cooper et al, 2006). Other ways that this could be addressed is through a general review system, where all clients' health is reviewed on a regular basis, such as via health action plans or an annual care management review system. Although these systems alert people to the need for specific checks, a system still needs to be in place to see that these checks are followed through.

There is also the question of who should undertake health screening. On this occasion in Manchester this was incorporated into a general screening project for dementia with people with DS, using a health checklist devised by community learning disability nursing staff, and was led by the psychology service. If heath checks were needed, this was then requested from the person's GP by either psychology or community nursing. This raises the question as to whether this should be a specified role for specialist learning disability teams (given their increased knowledge of the health needs of people with learning disabilities), or whether this should come from generic health services, for example, practice nurses/GPs.

A recommendation from the Disability Rights Commission investigation (2006) into health inequalities stated that primary care specialists need to offer an annual physical health check to people with learning disabilities. This raises the question as to how community learning disability teams can support this recommendation. A useful way forward could be community teams working in conjunction with GP practices via consultation, offering training and accessible information to help facilitate effective health checks for people with learning disabilities.

Further research is also needed to test the longer-term clinical effectiveness of screening programmes and whether these are cost-effective for people with learning disabilities. For example, research could examine whether an initial screening project increases the awareness of the need for regular health checks and whether carers continue to take people with learning disabilities for checks without additional prompting from community team members. Another example could be exploring whether GPs begin to offer routine health screening once an initial screening programme has been completed.


Overall in Manchester the screening project highlighted many areas where people with Down's syndrome were not receiving the recommended health checks. As a result of the project, many people have now been assessed in the areas identified (thyroid, hearing, heart, vision, diabetes, skin, epilepsy and dental care) and have been treated for various conditions that were previously undetected.

In our service, there has been a general increased awareness of the higher prevalence of health conditions associated with having Down's syndrome, and this continues to be addressed via training offered by our service.

Also, people with Down's syndrome will continue to have health screening as part of the Dementia Screening Initiative. This has now been incorporated into routine clinical practice, and people will be assessed at various intervals, depending on their age.

From our experience, undertaking a screening project has been useful and is one way of reducing the health inequalities and improving the general healthcare of people with Down's syndrome and those who have a learning disability in general.


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