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The Down Syndrome Medical Interest Group

Improving Healthcare for People with Down Syndrome

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Ageing and Dementia

Overview

Adults who have Down Syndrome are enjoying increasingly longer lives – with many surviving beyond their 50th and 60th birthdays. This is partly due to our increased understanding of the medical conditions seen in Down Syndrome, as well as improvement in health surveillance, intervention and management of comorbidities throughout childhood and beyond.

The most notable association of Down Syndrome in older age is Alzheimer Disease – with increasing recognition that Down Syndrome is a genetic form of this dementia. However, adults with Down Syndrome are no different to other members of the population when it comes to getting older. They will face the same medical issues and are also entitled to the same provision of healthcare. However, it is important to note that the presence of an extra chromosome leads to an “accelerated” ageing process in Down Syndrome and more rapid cognitive and functional decline with advancing age.

Because of their underlying learning disability and communication difficulties in articulating how they are feeling or describing symptoms, many adults who have Down Syndrome will be reliant on family members or carers to interpret changes in their behaviour or recognise symptoms of deteriorating health. Carers and involved professionals need to be mindful of “diagnostic overshadowing” – whereby clinical signs, symptoms or new behaviours are attributed to the learning disability or other pre-established medical condition. Although Alzheimer Disease and symptoms of dementia are known to affect adults from an earlier age, it is still important to assess for other conditions that can cause decline in skills or apparent cognitive or personality changes including sensory impairment, thyroid dysfunction, depression, menopause or even musculoskeletal  conditions, such as cervical spinal instability. Social isolation or life changing events, such as moving into care or loss of a parent, are also considerations during this same assessment.

Where possible, all adults should be empowered to take ownership of their own health (with appropriate support) and for them to be accessing the “Annual Health Check” from the age of 14 years old – offered by most UK General Practitioners (https://www.nhs.uk/conditions/learning-disabilities/annual-health-checks/). The Down’s Syndrome Association has produced a specific booklet regarding annual health checks for teenagers and adults with Down Syndrome (see references and resources). 

General Health:

All adults should continue to adopt a healthy lifestyle and good dental health that started in early childhood. Regular exercise and a diet that involves making good food choices e.g. high fibre, adequate fluid intake and calcium and vitamin D rich sources (or supplementation) especially in the winter months, will help to prevent obesity (and possibly type 2 diabetes) as well as reduce the risk of constipation and osteoporosis – all of which occur with increased frequency in adults who have Down Syndrome (TILDA-IDS 2022).

They should continue to benefit from all routine screening programmes including breast and bowel cancer, annual thyroid monitoring as well as regular vision and hearing tests (and encouraged to wear any spectacles or hearing aids). In women, the menopause is often overlooked when assessing them for behavioural changes, lethargy, low mood and weight fluctuation. The symptoms, stages and formal diagnosis of the menopause are the same in women with Down Syndrome as for the rest of the population. However, there is a tendency for it to occur earlier (median age of 46 years). Changes in sleep patterns may indicate previously undiagnosed obstructive sleep apnoea, which should also be considered at health reviews. 

Mental Health:

Mental health disorders are reported to be more prevalent in adults with Down Syndrome than those in the general population (comprehensive review in Prasher & Bansal 2017) with depression, obsessive compulsive disorder and dementia (Alzheimer Disease) among the most common psychiatric conditions seen. However, there is a risk that these psychiatric conditions are missed. Alzheimer Disease is the most notable association of the ageing process in Down Syndrome, but it is important to exclude depression, thyroid dysfunction, hearing and visual impairment, should functional or cognitive decline be observed.

Dementia and Alzheimer Disease:

The term dementia is used to describe a number of different, progressive neurological conditions, that result in cognitive and functional decline. Alzheimer Disease is the most common form of dementia in the general population but also in adults with Down Syndrome. It is characterised by the presence of amyloid beta plaques and tau neurofibrillary tangles in the brain. It is believed that genes including the Amyloid precursor protein (APP) gene on chromosome 21, work together to increase the formation of these plaques and neurofibrillary tangles. Much of our understanding of Alzheimer Disease has been based on studies of Down Syndrome. As most people (>95%) with Down Syndrome have an extra, third copy of chromosome 21, there is overexpression of the APP and other implicated genes, with resultant increase in amyloid deposition in the brain and subsequent cognitive deterioration. Down Syndrome is therefore recognised as a genetic form of Alzheimer Disease.

By age 40 years, nearly all adults with Down Syndrome have evidence of plaque and tangle formation, although symptoms of Alzheimer’s is rare before this time. The mean age of diagnosis is 55 years old (Hithersay et al, 2019) which is earlier than the general population. As with the general population, survival rates for people with Down Syndrome and Alzheimer Disease is longer if the diagnosis is made earlier. The mean survival after diagnosis of dementia is 4.44 years (mean age at death of 59.98 years, SD 5.98, range 46.9 – 75.0 years). However, if the diagnosis is made before the 50th birthday, the median survival increases to 4.94 years, but this reduces to a median survival of 2.56 years (95% CI 1.56 – 3.58) if Alzheimer Disease is diagnosed after the 60th birthday (Sinai et al 2018).

Drug Therapy:

At the time of writing, there have not been any long term or randomised controlled drug trials specifically in adults with Down Syndrome. However, cholinesterase inhibitors such as donepezil and galantamine are approved in the UK for adults with Down Syndrome and dementia, and by increasing  the concentration of acetylcholine in the brain, helps facilitate effective communication between neurones.

Another excitatory neurotransmitter, glutamate, is also implicated in Alzheimer Disease, where it is usually present in excess concentrations leading to neuronal toxicity. This neurotoxicity is principally mediated by excessive Ca2+ entry, primarily through the N-methyl-D-aspartate (NMDA) receptors in the brain, which glutamate binds to. Memantine is a NMDA receptor antagonist that blocks the receptor, therefore reducing calcium entry through the glutamatergic pathway. Memantine tends to be reserved for moderate to severe Alzheimer Disease. None of these drugs reverse or prevent the disease but can help manage symptoms and may slow cognitive decline.

Looking to the future, there is ongoing research to identify and validating biomarkers associated with the development of Alzheimer Disease; the design of sensitive tools to measure changes in cognitive function before the onset of dementia symptoms; as well as alternative genes on chromosome 21 that may be implicated in dementia or influence selection for treatment. Studies are already underway, to develop and validate clinical outcome measures, with a view to using this combined knowledge to facilitate trials of treatment to prevent dementia in Down Syndrome (Horizon21 European Down Syndrome Consortium – Strydom et al. 2018).

The ABATE study is an interventional study that is testing a vaccine ACI-24.060, for Alzheimer disease in people with Down syndrome, which is being funded by its Swiss Manufacturer, in collaboration with the American National Institute of Health funded Alzheimer’s Clinical Trials Consortium – Down syndrome (ACTC-DS).The UK and Spain are also participating and there is hope that ACI-24.060 may be able to prevent the development of Alzheimer Disease by preventing the accumulation of amyloid-beta plaques in the brain.

Summary:

Adults with Down Syndrome are enjoying increasingly longer lives, and are likely to experience the same medical issues associated with older age, as seen in the general population, but also the increased risk of Alzheimer Disease. This article highlights some of the more common or important conditions seen, and emphasises the need for clinicians to be aware of diagnostic overshadowing.

Where possible, all adults should be empowered to take ownership of their own health (with appropriate support from family and carers) and for them to be accessing the “Annual Health Check” offered by most GPs. Multidisciplinary support from GP, community learning disability team, carers and social care is vital to optimise the care and quality of life, of adults with Down Syndrome throughout adulthood.

Additional Resources

  • Physical and social determinants of health and wellbeing for older adults with Down syndrome: Longitudinal evidence from IDS TILDA – Presentation at DSMIG Academic Meeting, Dublin, November 2022 (available in DSMIG Member’s Area). Professor Mary McCarron, Director, Trinity Centre for Ageing and Intellectual Disability, Principal Investigator, IDS-TILDA Executive Director, National Intellectual Disability Memory Service.
  • Mental Health and Dementia in Adults with Down Syndrome, Annus, T et al. in Down Syndrome Current Perspectives, Mackeith 2015, edited by Richard Newton , Shiela Puri and Liz Marder.
  • What can be learned about ageing and Alzheimer’s Disease from cells donated by people with Down Syndrome? – Presentation at DSMIG Academic Meeting, RSM, November 2024 (available in DSMIG Member’s Area). Professor Dean Nizetic, Professor of Cell and Molecular Biology, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London.
  • Dementia and Down Syndrome – Presentation at DSMIG Academic Meeting, RCPCH, Nov 20219 (available in DSMIG Member’s Area). Professor Andre Strydom, Institute of Psychiatry, Psychology & Neuroscience, King’s College London.

Down’s syndrome association (England Wales and N.Ireland) Health Series

Horizon21: https://horizon-21.org/

ABATE Study: https://www.abate-study.com/

Updated November 2025,Dr Vicky Ho, Consultant Community Paediatrician, Lewisham and Greenwich NHS Trust