Planning for the future after a diagnosis of early dementia, ensuring involvement of family, friends and the person with dementia will play a role in destigmatizing and normalizing dementia for all involved
YOUNG-onset dementia refers to dementia in which symptoms appear before the age of 65. It accounts for around 5-10% of all dementias, with 28,800 people in Australia currently diagnosed with this condition.
Alzheimer’s disease and frontotemporal dementia are common causes of dementia in younger people.
Juvenile dementia is important for several reasons: it often occurs in middle-aged people and does not usually present with the typical memory difficulties that are common in dementia in older people. The initial symptoms, which can be depressive, anxious, and psychotic in nature, can be mistaken for stress, depression, or anxiety, leading to referrals to counselors, psychologists, psychiatrists, etc.
Since dementia is not expected in younger people, it can take an average of 5 years or more before a diagnosis of juvenile dementia is made (here and here). There aren’t many services that cater specifically to this younger group. The Medicare-funded Cognitive Dementia and Memory Service (CDAMS) typically focuses on the assessment and diagnosis of dementia in older people over the age of 65. Younger people often consult private specialists such as neurologists or psychiatrists and have to pay for examinations such as brain imaging and neuropsychological tests, which are expensive.
It can be difficult to determine if someone with psychiatric symptoms is due to early-onset dementia. How do you know when and who to contact for further evaluation? Ducharme and colleagues published their recommendations for distinguishing between behaviorally variant frontotemporal dementia (bvFTD) and psychiatric disorders based on the overlap of symptoms, such as behavior changes, personality changes, disinhibition, risky behaviors (e.g., excessive spending, gambling), and mood swings. Ducharme and colleagues reported specific “red flags” that might prompt a clinician to suspect something else is going on and therefore make a referral to a specialist.
These “red flags” can be extended to other childhood dementias, and not just bvFTD, to consider referral elsewhere. Some of these include the onset of behavioral changes in mid to late adulthood (as opposed to late adolescence or early adulthood in psychiatric disorders), a gradual and non-acute onset, and the presence of neurological symptoms such as falls, postural instability, alien limb syndrome, ocular symptoms (e.g. slowing of saccades), asymmetric parkinsonism, frontal release symptoms, apraxia and dysphagia.
Bedside cognitive tests like the Mini Mental State Examination (MMSE) can be misleading, as someone with a young dementia like bvFTD can score within the normal range. The use of a Montreal Cognitive Assessment (MoCA) may be preferred and takes a similar amount of time to administer as the MMSE. One of the current research questions is how to better distinguish psychiatric disorders from dementia, especially in younger people. Neurofilament light chain (NfL) is a nonspecific biomarker in cerebrospinal fluid that is increased in dementia and is a promising test to make this distinction. Many groups are investigating the benefits of NfL in the blood that is more accessible, including ours in Melbourne.
“Julie* is a 50-year-old married woman with two children living in a rural area. In the last 4 years she seemed to become depressed, in a bad mood, lost interest in the family business, her two children and also her husband. She seemed distracted and not paying attention or concentrating. Julie had an increased appetite and gained about 5 kg in 12 months. She was spending more time away from family, isolating in her bedroom and seemed more interested in playing with her phone and watching YouTube clips. Julie’s husband tried to engage her and at least get her more interested in the children. He got angry and frustrated. Her entire conversation seemed to revolve around what she was watching on YouTube. He tried to get her to see a psychologist and get couples counseling, but she was uninterested. It became increasingly difficult for him to work alone, run the business and take care of the children. Eventually, he asked Julie to move out with her mother and he was shocked when she appeared dumbfounded and committed to leaving home. Julie was eventually referred to a neuropsychiatric service, evaluated, and underwent brain imaging, including magnetic resonance imaging brain and positron emission tomography scans, which showed frontal lobe shrinkage and reduced blood flow, respectively. She also had cognitive tests that revealed significant executive deficits. The assessment revealed an overweight, apathetic, disheveled woman who was neither interested in the assessment nor seemed concerned that she was now separated from her family. She has been diagnosed with bvFTD.”
* Not her real name
Diagnostic delays and uncertainties can have a significant impact. As with Julie, there can be many psychosocial stressors arising from the symptoms and unfortunately family and relationship breakdown is not an uncommon consequence, which can have devastating emotional effects on the family of the person eventually diagnosed with dementia.
People with juvenile dementia are ‘young’, they may work, support their families, take care of their parents and generally have multiple roles. A specialized childhood dementia service can play a role in improving diagnosis and access to services (here and here). While receiving a diagnosis can come as a shock, it is essential for treatment and planning for the future. It is important to obtain a definitive diagnosis and type of dementia in order to start medication (e.g. cholinesterase inhibitors for Alzheimer’s disease) and to allow access to dementia clinical trials and relevant support groups. Knowing the type of dementia is critical to providing patients, caregivers and families with information about its progression and prognosis. In juvenile dementia there is also a significant hereditary predisposition and the younger the dementia breaks out, the more likely it is that there is a genetic component. The known genetic abnormalities associated with dementia at a young age may be autosomal dominant in nature. This means that there is a 50% potential risk for children.
For example, in frontotemporal dementia, between 30% and 50% of people have a genetic abnormality, with the most common genetic abnormality being the C9orf72 hexanucleotide expansion repeat – this gene codes for frontotemporal dementia and motor neuron disease. Knowing that a person has this gene abnormality has implications for the progression of dementia in terms of symptom development (neurological symptoms, weakness) and the need for investigation (nerve conduction studies, respiratory function tests) and prognosis (reduced lifespan) and also for the next generation (Possibility of genetic testing and advice). For family members who may have lost touch with the person with childhood dementia, the added stress of a potentially hereditary component adds an extra layer of emotion to the guilt, anger, and depression they may already be experiencing.
In addition to knowing the type of dementia, other important aspects to consider after receiving a diagnosis of dementia may include options for changing jobs, financial assistance, driving tests, legal advice, and extended care planning.
If someone is under the age of 65, they can also access community support and services through the National Disability Insurance Scheme (NDIS). Families often need the support of a social worker to gain access to this program and it can be difficult to meet eligibility criteria.
Many people and families would prefer to stay at home with childhood dementia, but sometimes people need to move from community to assisted living. Unfortunately, residential aged care is not well suited to younger people with dementia, who arguably have different needs, are often more physically robust and may not be a ‘well-fit’. NDIS has some options including assisted disabled housing and assisted independent living, but in general there is a big gap in this area. The Australian Government has set a target of no people under the age of 65 living in residential aged care facilities by 2025 and it remains to be seen how this target develops.
While there are practical issues to be resolved, adjusting to a diagnosis of dementia can be difficult for families and individuals with childhood dementia due to the significant stigma associated with the diagnosis
I firmly believe that there needs to be a paradigm shift in relation to dementia itself.
Regardless of the age of onset, recognition of an earlier diagnosis and access to support services can be empowering as it can shift priorities, particularly depending on disease stage.
Rather than viewing dementia as an incurable disease, it could be viewed as a chronic condition in which cognitive impairment and functional changes occur on a spectrum and services and interventions can support and improve quality of life as impairments progress.
Depending on the type of childhood dementia, people live an average of 10 years, so learning about dementia as early as possible is crucial to maximizing quality of life.
Life goes on for people with dementia. In the mild and moderate stages, they are still able to drive, care for children and grandchildren, work and be productive, socialize, enjoy dinner and vacations. Planning for the future after a diagnosis of early dementia, ensuring involvement of family, friends and the person with dementia will play a role in destigmatizing and normalizing dementia for all involved.
Associate Professor Samantha Loi is a Principal Research Fellow at the Melbourne Neuropsychiatry Center and a Neuropsychiatrist at the Royal Melbourne Hospital. She is a clinical psychiatrist and is a current recipient of an Early Career Fellowship from the National Health and Medical Research Council.
The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policies of the AMA, the MJA or InSight+ unless otherwise stated.
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