Recruitment begins for trial to improve dementia diagnosis for people with Down Syndrome

Monash Health is recruiting participants for a trial to design a new model of care for a memory clinic for people with Down Syndrome. 

Geriatrician Dr Madeleine Healy, who is leading the “Improving Dementia Diagnosis in Down Syndrome” project, said 95% of people with Down Syndrome develop Alzheimer’s Disease, with an average age of diagnosis of 54 years.  

At present, there are no specialised memory services in Australia for people with Down syndrome or intellectual disability generally.  

‘Without access to specialised memory services people with Down syndrome experience delays in diagnosis and lose the opportunity for early intervention and support. Further, Australians with Down syndrome do not currently have equal access to clinical trials in Alzheimer’s disease, and this may lead to delays in accessing disease-modifying treatment in the future.  

‘At Monash Health, we aim to lead the way in enhancing services for individuals with Down syndrome across Australia. There is an urgent need for improved services, and we believe that by upskilling general health services, we can make significant strides.  

‘However, we also recognise the need for statewide memory services to provide the necessary expertise and support for people with Down syndrome and other intellectual disabilities,’ she said. 

Dr Healy, the Medical Lead for Cognitive Dementia and Memory Service under the Aged and Rehabilitation Division, said she is recruiting for the co-design component of the project and is looking for people with Down Syndrome, their families, and carers to participate in 30-minute face-to-face or online interviews around designing a specialised memory service.

From July 2025, Dr Healy and her team will be running a pilot memory service at Kingston Centre.

This project is funded by a Monash Health Emerging Researcher Fellowship, and Dr Healy’s PhD is funded by an NHMRC postgraduate fellowship.

A four-month overseas research trip to centres of excellence in the UK, Europe and the US was funded by a Churchill fellowship.

This project is also supported by partners at Monash University, Down Syndrome Victoria, Down Syndrome Australia and the Centre for Developmental Disability Health.

What is Down syndrome?

Down syndrome is the most common cause of intellectual disability worldwide, including Australia. Everyone with Down syndrome will have a degree of intellectual disability, and some delay in development.  

Although many people with Down syndrome may need varying degrees of support, most people with Down syndrome are able to lead ordinary and fulfilling lives in the community.  

Due to improved medical care, people with Down syndrome are living much longer than previously. It is estimated that the number of people with Down syndrome has increased in Australia from 2,852 in 1950 to 13,426 as of 2020.  

Alzheimer’s disease is the most common form of dementia. It’s a physical brain condition resulting in impaired memory, thinking and behaviour, where a person’s abilities deteriorate over time.  

There is no cure for Alzheimer’s disease, but the condition can be managed, and some symptoms can be treated. 

Dr Healy said Alzheimer’s disease is now the leading cause of death for people with Down syndrome.  

In the general population, Alzheimer’s disease is most often sporadic. For a minority of people, including people with Down syndrome and people with familial Alzheimer’s disease (such as Presenilin 1&2 or Amyloid Precursor Protein [APP] gene mutation), Alzheimer’s disease is genetically determined.  

People with Down syndrome usually have three copies of chromosome 21. The Amyloid Precursor Protein gene (APP) is located on chromosome 21. This means that people with Down syndrome have overproduction of amyloid from birth which leads to Alzheimer’s disease.  This is why people with Down syndrome experience symptoms of Alzheimer’s disease in their forties and have a median diagnosis of Alzheimer’s disease of 54.  

With the advent of biological diagnosis of Alzheimer’s disease, Down syndrome is now recognised as stage “0” in 2024 guidelines for diagnosis of dementia.  

‘There is an urgent need for people with Down syndrome to access cognitive screening, diagnosis, and post-diagnostic support. Further, in this age of rapid advances in the treatment of Alzheimer’s disease, people with Down syndrome should be able to access clinical trials and evolving disease-modifying treatments,’ Dr Healy said. 

International clinical guidelines recommend screening for dementia among people with Down syndrome from age 40. Yet, in Australia, Dr Healy said there are no formal services for the assessment and diagnosis of dementia tailored for people with Down syndrome or other congenital causes of intellectual disability.  

Mainstream dementia services are targeted at older adults. As a consequence, dementia is underdiagnosed among people with Down syndrome and delayed until late. Dr Healy added that clinical services are poorly equipped to treat and support people even after diagnosis. 

‘Ultimately, as disease-modifying treatment evolves, this will become a lost opportunity for treatment, accelerating the disease process and contributing to loss of independence,’ she said. 

Dr Healy said she hopes to use principles of co-design and evidence-based practice to pilot a specialised clinic for 12 months. The goal is to use the results to seek longer-term funding and support. 

‘Monash Health is uniquely poised to support this specialised memory service as it is an organisation delivering a comprehensive Disability Strategy and Action Plan. It operates the statewide Centre for Developmental Disability Health (CDDH) and has skilled Disability Liaison Officers,’ she said. 

Please contact Dr Madeleine Healy for more information on the project at madeleine.healy@monashhealth.org or at 0411435665. Participants will be remunerated with a gift card. 

World Down Syndrome Day is celebrated on 21 March every year. It is a global awareness day officially observed by the United Nations since 2012. The goal is to help people better understand and support those with Down syndrome.