Life expectancy for the roughly 150 babies now born in Ireland every year with Down syndrome has improved vastly since the situation in the 1940s. Back then, people with the condition weren’t expected to reach their teenage years, whereas now many are living to 60 and beyond.
This huge leap reflects medical advances over recent decades, especially in early surgery for congenital heart defects, along with the move away from institutionalisation, improvements in nutrition and better educational and work opportunities.
“Despite this success, life expectancy is still 20 years lower than the general population,” says Prof Mary McCarron, director of the Trinity Centre for Ageing and Intellectual Disability. Families and service providers face new challenges in supporting positive ageing among the estimated 7,000 people who live in Ireland with Down syndrome.
A tragedy of their improved life expectancy, says McCarron, is the emergence of Alzheimer’s disease, to which they are genetically predisposed. Death from dementia has increased by about 30 per cent in this population and she believes it is still being under-reported as a cause of death.
People with Down syndrome have three copies of chromosome 21 instead of the usual two. This chromosome carries genes for the production of a protein, beta-amyloid, that can accumulate to form plaques in the brain that are linked to dementia. Over-production of beta-amyloid increases the risk.
“There is this population who were never expected to get old,” says Nicola Hart, national research and support specialist with Down syndrome Ireland (DSI). As recently as the 1980s, the average life expectancy was still only the mid-20s. Now, with the average onset of Alzheimer’s being 20-25 years earlier in this community than in the typical population, the prospect of dementia is an issue that highly concerns families of adults and one they raise with DSI.
“If they have somebody now in their 40s, they had to fight for everything, for any kind of school, for some sort of quality in adult life. Now they are looking at this time bomb coming towards them and saying: What are we doing about this?”
Ensuring that people can be cognitively, physically and socially active is really important in trying to prevent dementia, she points out. Access to high-quality education and lifelong learning is a key component of that. Yet for people with Down syndrome, “there is still the assumption that after secondary school, you go into day care,” says Hart. “There is no career guidance or any sense that there is more to life, that people can contribute to society.” DSI is working with the State’s further education and training agency Solas to try to increase work opportunities “as that is one of the ways we stay cognitively engaged and connected with our peers”.
She acknowledges some people with Down syndrome will need more care than others and is not saying everyone should be working, “but there need to be more options”. Under the current system there is funding for school leavers to go into day services but if they don’t take that up and opt for further education or employment instead, there is no easy route back if their needs, or those of their ageing parents, change. As a result, Hart believes some parents are settling for day services for their adult children out of fear of “what will happen when I am not around?”
Due to the genetic risk-loading that people with Down syndrome have for dementia, says McCarron, we should be doing everything that we can to modify the other recognised risk factors. She is founder and principal investigator for IDS-TILDA, the world’s first longitudinal comparative study on ageing in people with intellectual disability, running in parallel with general ageing studies. In tracking the determinants of health and wellbeing of people with Down syndrome over the past 13 years, the study has found much higher levels of medical conditions, such as hypothyroidism, sleep apnoea, obesity, periodontal disease, dementia and new onset epilepsy coinciding with dementia, than in the general ageing population.
“We need to address these issues and prevent these medical comorbidities,” she says. Clinical trials, both pharmalogical and non-pharmalogical, are needed to see what treatments work for this population.
“We have got to close the gap between the life expectancy for the general population and this population. To me this is going to require a much more targeted approach in terms of prevention, treatment and management of dementia.” While there is no cure for dementia “no cure doesn’t equate to no treatment”, she stresses. With the right support, people can lead a very good quality of life.
One significant step has been the establishment of the first national intellectual disability memory clinic at Tallaght University Hospital. Prof Seán Kennelly is clinical director, and McCarron, who is executive director, says the plan is to set up regional satellite services so people can access timely memory assessments.
As 60 per cent of people with intellectual disability continue to live at home, how they and their families are going to be supported as they all get older is another big public health issue. Shutting them away in congregated settings would be a retrograde step.
“There needs to be a pathway towards what’s going to happen and how we are going to care for these people,” says McCarron. “It would be a complete tragedy if they were to be reinstitutionalised in their 40s and 50s.”
People used to view those with Down syndrome as needing to be looked after all the time, says Hart, whereas we are increasingly seeing that, with the right support, they are able to run their own lives.
“As a society we are now looking at this from a rights-based perspective, rather than a ‘mind them’ perspective. The systems haven’t caught up with that I feel.” What’s needed, she says, is individualised funding for individual supports, a Government objective that is still being tested in pilot projects.
Access to individualised funding is one of 21 demands listed in DSI’s campaign The Upside, which celebrates progress made since the organisation was founded 50 years ago and highlights continuing societal discrimination and gaps in services. It calls on State-funded disability services to be proactive about lifestyle approaches to dementia prevention, by providing opportunities for physical activities, mental stimulation and supporting people to learn how to optimise their own mental and physical health.
Brian Murphy (38) benefits from physical exercise and the chance to integrate in the local community, as well as learning new skills, through participation in a horticultural project established by the Kildare branch of Down syndrome Ireland.
“It introduces new tasks on a seasonal basis and gives variety and direction in his life,” says his mother, Kathleen Murphy, a widow who lives alone at home with Brian in Newbridge, Co Kildare. “It also supports mental health.” Not just his but hers as well, she explains, as it is a comfort “to know that he goes there and he is busy and has something to look forward to”. Now in her 70s, she says she tries not to think about the future. “Who knows what tomorrow is going to bring. I have a son who helps me out a lot, I am lucky in that, but I know people who don’t have anybody.”