As with all people, finding meaningful purpose as we age can be challenging. Worldwide experience has demonstrated that only a small number of people living with Prader-Willi syndrome (PWS) are reaching old age. Of these, most are likely to be living in supported accommodation. Enabling a good and meaningful life can be challenging, a task that is likely shared with the individual’s support organisations.

Introduction

The number of older people who are over the age of 40 in Australia and known to PWSA is very small. As a result, we know very little about this cohort. Due to our low numbers, we shall instead explore the experience in overseas, to inform what we might expect to see here in Australia as our population lives longer with improved supports.

Support funding in Australia used to be severely restrained, which invariably lead to premature death in the population living with PWS. There was not enough of the right support, leading primarily to obesity related illnesses and accidental death. Since the commencement of the National Disability Insurance Scheme (NDIS), there’s increased funding and improved support practices, so we can expect many to be living longer.

Much of this article relates to health studies. Towards the end we outline a German example of retiring with dignity.

Ageing cohort in United Kingdom

PWSA UK is currently aware of 164 people living with PWS aged 40 or older in the UK. Of these, only 56 individuals are aged 50 or older and of these, five people are aged 60 or older, with the oldest being 63. In recent times, the oldest person they know died at the age of 68, but there is a published report of a woman with PWS living to age 74.

Signs of ageing in PWS

The PWSA UK Residential Care and Supported Living Forum (which consists of senior managers from these establishments) discussed the signs of ageing that they have noticed in their service users living with PWS from late 30s onwards:

• Older facial features (rapid occurrence often beginning in the mid to late 30s) – looking far less youthful and skin ageing
• Stooping posture
• Decrease in stamina
• Decrease in mobility
• Improved adaptive skills
• Less intense and less frequent behaviours
• Activities may lessen or change – as they do in the general population
• Motivation – variable between individuals – may go up or down
• Decrease in ability to process verbal information
• Possible decrease in language and listening skills
• Weight becomes more difficult to lose (possibly just females?)
• Chest infections take more time to clear

Further observations about ageing in PWS from the PWSA UK Residential Care and Supported Living Forum

• Although some members of the forum felt there was little or no difference in the ageing process to the general learning disability population, others felt that the ageing process seems quicker in those with PWS. Physical appearance and problems of older age in general appear earlier.
• PWS may mask other issues which go alongside old age generally, and there may be under-reporting by individuals due to high pain threshold or not wanting to go into hospital.
• Good dietary management could be a factor in those who show fewer signs of ageing.
• Hormone regulation could be more difficult. We have little information about what happens at male and female menopause. Are replacement hormones required, or at what point should existing sex hormone treatment be discontinued?
• Lifelong anxiety levels causing greater stress may cause earlier ageing symptoms.
• Long term structured environment (usually in residential care) may be a factor in decreased challenging behaviour, rather than old age itself.
• We should not assume that because a person with PWS has enjoyed an activity or interest when younger that they will still enjoy it as they age – this is true for all people, with and without PWS.

Research summaries:

UK

‘Ageing in people with Prader-Willi syndrome: mortality in the UK population cohort and morbidity in an older sample of adults’, JE Whittington, A J Holland and T Webb – Psychological Medicine, Cambridge University Press 2014

This later research was a follow-up of previous research into a group of people with PWS of all ages in the UK which was carried out from 1998 to 2000.

Researchers found a mortality rate of at least 7/62 over 9 years (1.25% per annum; 20 untraced). Age at death was between 13 and 59 years.

Out of 26 people in this research group aged 40 or over, 22 showed no evidence of dementia, while the remaining four all had possible symptoms. All four were female, of maternal uniparental disomy (mUPD) genetic subtype, and had a long history of psychotic illness.

Netherlands

‘Ageing in Prader-Willi Syndrome: Twelve persons over the age of 50 years’, Sinnema M, Schrander-Stumpfel CTrm, Maaskant MA, Boer H, Curfs LMG. 2012. (Am J Med Genet Part A 158A:1326-1336)

Study participant profile:

• Age range 50 – 66 years
• 5 males, 7 females
• 4 with deletion, 8 with mUPD (maternal disomy)
• 11 in community or residential facilities, one living at home with elderly mother
• Mean age at moving to residential facility – 19.4 years
• Mean BMI in persons with deletion was significantly higher than persons with mUPD – three of the latter had a BMI under 25.
• Mean maximum BMI was 36.5, with a range of 23.6 – 44.4
• 3 people smoked (cigarettes, pipe, cigars)
• Half had diabetes mellitus, mean age of diagnosis 41.6 years
• No one in this group had received sex or growth hormone therapy
• No one had epilepsy or cancer

One woman died, aged 65, shortly after data collection, due to lung problems

Individuals with PWS aged 18 – 49 years were used as a control group.

Health checks

The Dutch study underlines the need for regular health checks for adults with PWS. In particular:

• Cardiovascular disease
• Diabetes
• Dermatological problems
• Orthopaedic problems
• Sleep problems
• Osteoporosis

All usual age-appropriate screenings should be carried out (eg hearing, eyes, cancer etc, with possible exception of cervical smear tests for women with no history of sexual activity. You can give your son or daughter’s GP a copy of ‘Information for GPs’ found on the PWSA website which explains in greater detail the importance of health checks.

Under-reported or undiagnosed problems in older people with PWS

• Sleep problems and osteoporosis are likely to be under- reported and deserve special attention.
• Diagnosis of pneumonia is frequently delayed in older adults with PWS because of absence of fever.

Other points from the Dutch study

There were relatively more individuals in this study in the moderate-severe learning disability range.

These individuals may have required earlier intervention by being placed in structured residential settings at an earlier age, which in turn could have contributed to their longevity because of better weight management and prevention of serious medical complications.

The researchers hypothesize that there may be premature aging in PWS, especially where no sex or growth hormone is given. They state that aging in PWS starts at 50 or younger.

Retiring with dignity – Maintaining community inclusion into older age (Germany)

As with all people, people living with PWS should be supported to progress from work to semi-retired or fully retired pursuits and activities. The challenge of maintaining social inclusion is as important during this new phase as with all other life stage. This is particularly important when considering that premature aging may be a characteristic of living with PWS.

One great example of ageing with dignity can be seen at Regens Wagner near Alsberg, Germany. Here the day program for retirees is co-located alongside other facilities that are run by people living with PWS.

Programs at the centre include beef farming, vegetable growing, fish farming, an animal petting zoo, farmer gate shop, restaurant, and pottery facility. Depending on the individual’s daily level of health and fitness, they can participate in these activities, or they can undertake more relaxed pursuits in their retired person’s day program. Members of the public regularly attend the petting zoo, shop, and restaurant and in doing so mingle with the workers and retirees.

Of note is the strategic location of the retiree program facility within the complex. The outside seating area for the program is positioned so that it juts into the edge of the carpark, which results in the visiting public chatting with the participants.

How can you help?

Please let us know about any programs around Australia, or the world, for retirees living with PWS. We are interested in successes and challenges.

Your son or daughter might be willing to share privately any physical or mental problems or changes in behaviour – for better or worse, which have occurred after the age of 40. We would also like to hear about how they manage the changes. If so, please contact us using social@pws.org.au

This will help increase our understanding of what is happening to people living with PWS in middle and old age and could inform future programs.

Other resources:

A series of short videos made by specialists and focusing on health can be found on the International Prader-Willi Syndrome Organisation (IPWSO) YouTube page at: https://www.youtube.com/playlist?list=PL0hzNGbX1PrzkgpExRZnNGrqp27FRd46K

Caregivers can find useful IPWSO videos to help guide their practice at: https://ipwso.org/how-we-can-help/project-echo/the-ipwso-caregivers-echo/ipwso-caregivers-echo-videos/

A series of videos about well-being and mental health are available from IPWSO.

Thank you ….

to PWSA UK for sharing their original source material for this article.