Young-onset dementia: time for a conversation

Planning for the future following a diagnosis of early dementia, ensuring the involvement of family, friends and the individual with dementia, will play a part in destigmatising and normalising dementia for all concerned

YOUNG-onset dementia refers to a dementia where symptoms occur at less than 65 years old. It encompasses about 5–10% of all dementias, with currently 28 800 people in Australia with this diagnosis.

Alzheimer’s disease and frontotemporal dementia are common causes of dementia occurring in younger people.

Young-onset dementia is important for multiple reasons: it occurs in people often of middle age and doesn’t usually present with the typical memory difficulties frequently seen in dementia of older people. The initial presenting symptoms, which can be depressive, anxiety and psychotic in nature, can be mistaken as stress, depression or anxiety, leading to referrals to counsellors, psychologists, psychiatrists etc.

Because having dementia is not expected for younger people, it can take on average 5 years or more to get a diagnosis of young-onset dementia (here and here). There are not many services specifically focused on this younger group. The Medicare-funded Cognitive Dementia and Memory Service (CDAMS) tends to focus on the assessment and diagnosis of dementia in older people, aged over 65 years. Younger individuals often see private specialists like neurologists or psychiatrists and need to self-fund investigations like brain imaging and neuropsychological testing, which are expensive.

It can be hard to work out whether someone having psychiatric symptoms is due to a young-onset dementia. How do you know when and to whom to refer to for further assessment? Ducharme and colleagues published their recommendations to differentiate behavioural-variant frontotemporal dementia (bvFTD) from psychiatric disorders because of the symptom overlap, such as change in behaviour, personality change, disinhibition, risk taking behaviour (eg, overspending, gambling), and mood changes. Ducharme and colleagues reported specific “red flags” that may prompt a clinician to have increased suspicion that something else may be going on, and thus make a referral to a specialist.

These “red flags” can be extended to other young-onset dementias, and not just bvFTD, to consider a referral elsewhere. Some of these include the onset of behavioural changes in middle-to-late adulthood (as opposed to late adolescence or early adulthood for psychiatric disorders), a gradual rather than acute onset, and the presence of neurological symptoms such as falls, postural instability, alien-limb syndrome, eye signs (eg, slowing of saccades), asymmetrical Parkinsonism, frontal release signs, apraxia and dysphagia.

Bedside cognitive testing such as using the Mini Mental State Examination (MMSE) can be misleading because someone with a young-onset dementia like bvFTD may score within the normal range. Using a Montreal Cognitive Assessment (MoCA) may be preferred and it takes similar time to administer as the MMSE. One of the current research questions is investigating how better to distinguish psychiatric disorders from dementia, especially in younger people. Neurofilament light (NfL) chain is a non-specific biomarker in the cerebrospinal fluid which is raised in dementias and is a promising test in making this differentiation. Many groups are investigating the utility of NfL in blood, which is more accessible, including ours in Melbourne.

“Julie* is a 50-year-old married woman with two children, living in a rural area. Over the past 4 years, she appeared to be getting depressed, had low mood, loss of interest in the family business, their two children and also her husband. She appeared to be distracted and not pay attention nor concentrate. Julie had an increase in her appetite and put on about 5 kg of weight over 12 months. She spent more time away from the family, isolating herself in her bedroom, seemingly more interested in playing with her mobile phone, watching YouTube clips. Julie’s husband tried to engage her and at least get her more interested in the children. He became angry and frustrated. All her conversation seemed to revolve around what she was watching on YouTube. He tried to get her to see a psychologist and have couples counselling, but she was disinterested. It was getting increasingly difficult for him to work, manage the business and look after the children alone. Eventually, he asked Julie to move out with her mother, and he was shocked when she appeared nonplussed and was obliging to leave their home. Julie eventually was referred to a neuropsychiatry service, was assessed and had brain imaging, including magnetic resonance imaging brain and positron emission tomography scans, which showed shrinkage of the frontal lobe and decreased blood flow, respectively. She also had cognitive testing, revealing significant executive deficits. Assessment revealed an overweight, apathethic woman, dishevelled, who was uninterested in the assessment, nor seemingly concerned that she was now living away from her family. She was diagnosed with a bvFTD.”

* Not her real name

Diagnostic delay and uncertainty can have significant impact. Like Julie, there can be many psychosocial stressors that result from the symptoms and, unfortunately, family and relationship breakdown is not an uncommon consequence, which can have devastating emotional ramifications for the family of the individual who eventually gets a dementia diagnosis.

People with young-onset dementia are still “young”, they may be working, supporting their families, looking after their parents and generally managing multiple roles. A specialist young-onset dementia service can play a role in improving diagnosis and access to services (here and here). While getting a diagnosis can be a shock, it is essential for treatment and future planning. Getting a definitive diagnosis and type of dementia is important so medication can be started (eg, cholinesterase inhibitors for Alzheimer’s disease) and access to dementia clinical trials and relevant support groups can occur. Knowing the type of dementia is crucial to provide information about progression and prognosis to patients, carers and families. In young-onset dementia, there is also a significant hereditary disposition and the younger the onset of dementia, the more likely that there is a genetic component. The known genetic abnormalities implicated in young-onset dementia can be autosomal dominant in nature. This means there is potentially a 50% risk to children.

For example, in frontotemporal dementia, between 30% and 50% of people have a genetic abnormality, the most common genetic abnormality is the C9orf72 hexanucleotide expansion repeat – this gene codes for frontotemporal dementia and motor neuron disease. Knowing that an individual has this gene abnormality has implications for progression of the dementia in terms of symptom evolution (neurological symptoms, weakness) and need for investigations (nerve conduction studies, respiratory function tests) and prognosis (reduced life span) and also for the next generation (option of genetic testing and counselling). For family who may have lost contact with the individual with young-onset dementia, the added stress of a potential hereditary component adds an extra layer of emotions to the guilt, anger and depression they may already be experiencing.

As well as knowing the type of dementia, other important issues to consider after receiving a dementia diagnosis may include options for employment changes, financial support, driving assessments, legal advice and advanced care planning.

If someone is aged less than 65 years old, they can also access community support and services through the National Disability Insurance Scheme (NDIS). Often families require assistance from a social worker to access this scheme and it may be difficult to meet the criteria for eligibility.

Many people and families would prefer to stay at home living with young-onset dementia, but sometimes people do need to transition from the community to supported accommodation. Unfortunately, residential aged care doesn’t cater well for younger people with dementia, who arguably have different needs, are often more physically robust and may not be a “good fit”. NDIS has some options, including Supported Disability Accommodation and Supported Independent Living, but in general, there is a big gap in this area. The Australian Government has made a stipulation that there will be no people aged younger than 65 years old living in residential aged care by 2025 and it remains to be seen the progress towards this target.

While there are practical issues to address, for the family and individual with young-onset dementia, adjusting to a dementia diagnosis can be difficult as there is significant stigma associated with the diagnosis

It is my strong belief that there needs to be a paradigm shift about dementia itself.

Regardless of age of onset, recognition of earlier diagnosis and access to support services can be empowering as this may mean a shifting of priorities, especially depending on the stage of illness.

Rather than considering dementia as a terminal illness, it could be considered as a chronic condition in which cognitive impairment and functional change are on a spectrum, and services and interventions can support and improve quality of life while the impairments progress.

Depending on the type of young-onset dementia, people live on average 10 years, so finding out about dementia as early as possible is critical for maximising quality of life.

Life continues for people with dementia. At the mild and moderate stages, they are still able to drive, care for children and grandchildren, work and be productive, be sociable, enjoy dinner and holidays. Planning for the future following a diagnosis of early dementia, ensuring the involvement of family, friends and the individual with dementia, will play a part in destigmatising and normalising dementia for all concerned.

Associate Professor Samantha Loi is a Principal Research Fellow at the Melbourne Neuropsychiatry Centre and a neuropsychiatrist at the Royal Melbourne Hospital. She is a clinician-psychiatrist and current recipient of a National Health and Medical Research Council Early Career Fellowship.

The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, the MJA or InSight+ unless so stated.

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