Diagnosis and support for younger people with dementia
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1 Diagnosis and support for younger people with dementia Hayo H (2015) Diagnosis and support for younger people with dementia. Nursing Standard. 29, 47, Date of submission: June ; date of acceptance: June Abstract There is a lack of recognition by staff working in healthcare and social services that people under the age of 65 can develop dementia, according to families affected by early onset of the condition. This results in a substantial delay in referral and diagnosis, which can lead to significant family and relationship difficulties. There is also a lack of specialist advice and support after a diagnosis of young-onset dementia, which adds to feelings of distress and isolation for both the person and their family. This article, which is part of a series on dementia, explores the epidemiology of young-onset dementia as well as the assessment, diagnosis and support for younger people living with dementia. It emphasises the need for specialist services and outlines the nurse s role in supporting families living with the effects of young-onset dementia. Author Hilda Hayo Chief Admiral Nurse and chief executive officer of Dementia UK, London, England. Correspondence to: hilda.hayo@dementiauk.org Keywords Alzheimer s disease, dementia, diagnosis, early-onset dementia, support, vascular dementia, younger people, younger people with dementia, young-onset dementia Review All articles are subject to external double-blind peer review and checked for plagiarism using automated software. Online For related articles visit the archive and search using the keywords above. Guidelines on writing for publication are available at: journals.rcni.com/r/author-guidelines DEMENTIA IS MORE prevalent in the older population, so there has been a tendency for services and support to be developed to meet the needs of older people living with dementia. As a result, the specialist needs of families living with the effects of young-onset dementia are not adequately addressed. The terms young-onset dementia, younger people with dementia, early-onset dementia and working age dementia are used when a person younger than 65 is diagnosed with dementia. Early recognition and referral was identified by patients and carers as the principal area for improvement in services for people with early-onset dementia (Armari et al 2013). In the same study, caregivers also identified a lack of post-diagnosis support. The causes of young-onset dementia include diagnoses that clinicians rarely encounter, such as prion disease and multisystem failure (Baldwin and Murray 2005). As a result, dementia in younger adults may be misdiagnosed (Werner et al 2009). There has been limited research into treatment, approaches, support and care services for younger people living with the effects of dementia (Werner et al 2009). Epidemiology In 2014, it was estimated that 850,000 people in the UK were living with a form of dementia, and that this figure would increase to more than two million by 2051 (Alzheimer s Society 2014). There has been a lack of epidemiological research into the prevalence of young-onset dementia, which has led to difficulty in planning and commissioning services. The estimate of the prevalence of young-onset dementia in the UK has been updated to approximately 42,000 cases, much greater than was previously thought (Alzheimer s Society 2014). Kelley et al (2008) studied people who were diagnosed with dementia before the age of 45. They found that metabolic causes, including diabetes, thyroid disease and nutritional disorders, were most common in the under-35 age group. In the age group, most dementia was a 36 july 22 :: vol 29 no 47 :: 2015 NURSING STANDARD
2 result of neurodegenerative disease, including Alzheimer s disease, frontotemporal dementia and dementia with Lewy bodies. Diagnosis and assessment Before diagnosis of young-onset dementia, family members, friends and work colleagues often recognise a change in a person s behaviour, mood, concentration or cognitive abilities, but tend to attribute this to stress, relationship problems, work issues or depression (Werner et al 2009). There is a lack of recognition that these changes may be the symptoms of young-onset dementia, unless there is a family history of dementia, in which case the person and their family are more acutely aware of the early warning signs. Receiving an accurate diagnosis of young-onset dementia takes three years on average, because of a lack of awareness among healthcare professionals of the signs and symptoms of the different types of dementia that may affect a person under the age of 65 (Luscombe et al 1998, Davies-Quarrell et al 2010). Werner et al (2009) found that 30-50% of younger people with dementia were wrongly diagnosed or given an uncertain diagnosis. Diagnosing young-onset dementia requires specialist knowledge and skills, given the variety of different causes and presentations of dementia in people under the age of 65 (Rossor et al 2010). Commonly used tests, assessments and diagnostic procedures are listed in Box 1. Not all people with young-onset dementia will have memory disturbance as a major symptom. It is therefore essential that a careful history is taken from the person with suspected dementia, and also from their family members. In particular, questions should be asked about the person s behaviour and any changes in personality, mood, social interactions and everyday living abilities. An early diagnosis is essential to allow people with young-onset dementia to access appropriate treatment, as well as support to help them and their family come to terms with the diagnosis (Jefferies and Agrawal 2009). It also enables the whole family, including the person diagnosed with dementia, to make decisions regarding finances, work, welfare and legal matters (Armstrong 2003, Johnson 2010). Box 2 outlines the most commonly diagnosed young-onset dementias and their main signs and symptoms. About one third of people diagnosed with young-onset dementia have Alzheimer s disease. In a small number of cases, Alzheimer s disease is inherited as an autosomal dominant trait as a result of mutations in one of three genes (Rossor et al 2010): the amyloid precursor protein (APP) gene (chromosome 21); presenilin-1 (chromosome 14); or presenilin-2 (chromosome 1). Genetic mutations affecting presenilin-1 are the most common in Alzheimer s disease, about 70% of genetic presentations (Rossor et al 2010). Mutations in presenilin-2 are rare and associated with Volga German ancestry (Rossor et al 2010). Mutations in APP account for 10-15% of familial Alzheimer s disease (Rossor et al 2010). People with Down s syndrome have an increased genetic risk of developing dementia because of an extra chromosome 21. Around 30-40% BOX 1 Commonly used tests and diagnostic procedures for dementia Personal history To gather information about: medical history; family history; relationships; any changes in mood, personality, social functioning, behaviour or cognition; activities of living; and life events. It is important to speak to the patient s partner and/or family members separately for corroboration and additional information. Cognitive tests Mini-Mental State Examination (MMSE): assesses short and long-term memory, attention span, concentration, language and communication skills, and ability to plan and to understand instructions (Folstein et al 1975). Alzheimer s Disease Assessment Scale cognitive subscale (ADAS-cog): this test is more thorough than the MMSE and can be used to identify mild cognitive symptoms (Mohs et al 1997). Blood tests To investigate for anaemia, infection, electrolyte imbalance, liver function, vitamin B 12 deficiency, thyroid function, drug interactions and dosing problems. Further blood tests can be arranged if the person is suspected to have additional physical health issues. Brain imaging Computed tomography (CT) scan: to check for signs of a stroke or brain tumour. Magnetic resonance imaging (MRI) scan: provides detailed information about the blood vessel damage that occurs in vascular dementia, plus any brain atrophy. Single photon emission CT (SPECT) or positron emission tomography (PET) scan: might be recommended if results of a CT or MRI scan are inconclusive. These examine how the brain functions and can identify blood flow abnormalities in the brain. Lumbar puncture Lumbar puncture can be used to check protein levels in the cerebrospinal fluid and identify inflammatory causes, such as multiple sclerosis and infections. Neuropsychological tests A variety of assessments can be carried out by a neuropsychologist or psychologist, including tests of memory, ability to copy drawings, numeracy, reasoning and comprehension. Radiological tests Standard X-rays can be taken, such as a chest X-ray in smokers to rule out lung cancer and potential secondary tumours. Neurological and physical examination To include examinations of eye movement, gait, reflexes, myoclonus, blood pressure and pulse, and rule out any underlying neoplasm or abnormality. NURSING STANDARD july 22 :: vol 29 no 47 ::
3 BOX 2 of individuals with frontotemporal dementia have a family history that includes at least one other relative with a neurodegenerative disease, such as motor neurone disease or Parkinson s disease. The most common mutations found in frontotemporal dementia are in chromosome 17 (Rossor et al 2010). Commonly diagnosed young-onset dementias and associated signs and symptoms Alzheimer s disease (about 34% of cases) Signs and symptoms may include memory loss that disrupts daily life; difficulty in planning or problem solving; difficulty in completing familiar tasks; confusion with time or place; trouble understanding visual images and spatial relationships; problems with language and speech; misplacing things and losing the ability to retrace steps; decreased or poor judgement; withdrawal from work or social activities; changes in mood and personality. Vascular dementia (about 18% of cases) Signs and symptoms depend on which area of the brain is affected, and may include problems with thinking speed, concentration and communication; depression and anxiety; symptoms of stroke, such as physical weakness or paralysis; memory problems; seizures or myoclonus; periods of severe confusion; changes in behaviour; difficulties with walking and unsteadiness; hallucinations and delusions; visual mistakes and misperceptions. Frontotemporal dementia (about 12% of cases) There are three main types of frontotemporal dementia: 1. Behavioural variant frontotemporal dementia signs and symptoms may include loss of inhibitions; loss of interest in people and things; loss of empathy; repetitive, compulsive or ritualised behaviours; craving for sweet or fatty foods; difficulty with planning, organising and decision making; and loss of insight. 2. Progressive non-fluent aphasia. 3. Semantic dementia. Types 2 and 3 are classed as language variant frontotemporal dementia. The signs and symptoms of both may include: slow hesitant speech; errors in grammar; impaired understanding of complex sentences; asking the meaning of familiar words; trouble finding the right word and using generalised words; and difficulty recognising familiar people and common objects. Alcohol-related brain impairment (about 10% of cases) Signs and symptoms may include long-term memory problems; difficulty in acquiring new information or learning new skills; change in personality; lack of insight into condition; and confabulation (attempts to fill in the gaps in memory). Dementia with Lewy bodies (about 7% of cases) Signs and symptoms may include problems with attention and alertness; difficulties with judging distance and perceiving objects in three dimensions; problems with planning and organising; depression; visual hallucinations; movement problems; Parkinson s-like symptoms; falls; sleep disturbance; and a noticeable fluctuation of signs and symptoms over the course of the day, peaking at times when the person is feeling tired. Other rare forms of dementia (about 19% of cases) These include corticobasal degeneration, Creutzfeldt-Jakob disease, human immunodeficiency virus-related cognitive impairment, Huntington s disease, multiple sclerosis, Niemann-Pick disease, normal pressure hydrocephalus, Parkinson s disease, posterior cortical atrophy, and progressive supranuclear palsy. (Rossor et al 2010) Support for younger people living with dementia The early symptoms of young-onset dementia tend to be attributed to stress, relationship problems, work issues or depression. Once the person or their family recognises that significant problems are occurring in everyday life and approaches the GP, they may experience difficulties as a result of a lack of awareness, misdiagnosis and lack of clinical expertise regarding young-onset dementia. It may take considerable time for the GP to refer the person with symptoms of dementia to an appropriate service for further testing and diagnosis. The particular issues experienced by younger people living with dementia are listed in Box 3. Families can experience stigma when a diagnosis of dementia is made, especially in a person under 65 years (Rose et al 2010, Alzheimer s Disease International 2012). Gilliard et al (2005) reported that people experience difficulty in obtaining a diagnosis of young-onset dementia, and that when a diagnosis is received, the person s family has to deal with the consequent social stigma, discrimination and lack of understanding in the community, which intensifies the issues they face. Some families report feeling shame and embarrassment about the diagnosis and the effects dementia can have on their lives (van Vliet et al 2011). The stigma affects not only the person s spouse but also children and young people in the household. They may feel embarrassed by their BOX 3 Issues for younger people living with dementia Young people with early-onset dementia are likely to: Have a rare form of dementia (Rossor et al 2010). Have difficulty in obtaining an accurate early diagnosis (van Vliet et al 2011). Be misdiagnosed (Werner et al 2009). Be in work at the time of diagnosis or have recently lost their job (Rose et al 2010). Have substantial financial commitments, for example, a mortgage or children at university. Have dependent children (Beattie et al 2004). Have additional caring responsibility for parents (Arai et al 2007). Have a partner who still works (Allen et al 2009, Rose et al 2010). Be physically fit and active (Armstrong 2003). Have a type of dementia that affects behaviour and social functioning in the early stages (Rossor et al 2010). Have family members with significantly higher psychological and physical morbidity (Rosness et al 2011). Be sexually active (Armstrong 2003). (Adapted from Alzheimer s Society 2012) 38 july 22 :: vol 29 no 47 :: 2015 NURSING STANDARD
4 parent s behaviour and so refrain from inviting friends to their house, potentially isolating themselves from their peer group (Hutchinson et al 2014). Children may find it difficult to talk about their thoughts and feelings with their parents because of concerns about burdening them or causing distress. Feelings of loss, isolation and exclusion are often reported by younger people living with dementia (Jefferies and Agrawal 2009, Werner et al 2009). Families report going through a grieving process when the diagnosis has been made (Harris and Keady 2009, Johnson 2010). The stages of the grieving process include denial and isolation, anger, bargaining, depression and acceptance; family members can be at different stages of the grieving process at the same time. With the right specialist support, families can adapt to the diagnosis and the changes it may bring, and develop different coping strategies and strengths so they can live positively with dementia (Page and Keady 2010). This is why it is important to have access to specialist practitioners such as Admiral nurses, who are specialist dementia nurses who use a range of psychosocial and relationship-centred interventions with families who are living with the effects of dementia (Armstrong 2003). A family approach to supporting families living with a family member with young-onset dementia is important to prevent family breakdown (Gelman and Greer 2011). Specialist services Families living with young-onset dementia experience discrimination and marginalisation that is exacerbated by the way in which services are designed (Gilliard et al 2005). The interests, needs, issues and activities suitable for someone in their 70s or 80s are unlikely to be the same as that for someone in their 40s or 50s. Services and groups for younger people living with dementia should aim to maintain activities of daily life, friendships and hobbies, to support people to live an active lifestyle, and to be family oriented. The National Institute for Health and Care Excellence and Social Care Institute for Excellence (2006) and the Royal College of Psychiatrists and Alzheimer s Society (2006) recommended the use of specialist multidisciplinary teams, linked to existing dementia services, for assessment and diagnosis of young-onset dementia, to ensure that the most appropriate support is given. Often GPs will refer patients that they suspect of having young-onset dementia to a neurologist for assessment and diagnosis. Although neurologists have the most experience of recognising and diagnosing neurological disorders, including young-onset dementia, they often do not know what services and support are available locally (Jefferies and Agrawal 2009). This may result in the person and their family not receiving appropriate advice and support when it is needed, which can have a psychological and emotional effect, potentially causing a deterioration in quality of life and relationships within the family (Werner et al 2009). Carers state they require a care co-ordinator to assist them to receive the required services, support and respite because of a lack of clarity about what is available and the complexities of accessing health and social care systems (Jefferies and Agrawal 2009), but their needs are often overlooked. If a family carer has a job outside of the home, there are added pressures of trying to balance career, family and employment needs. There are few specialist services available for family carers, and those that do exist are often restricted in their opening times and what they can provide. Those services that do exist also tend to be expensive and families can find it difficult to get funding support, which increases their financial burden. The nurse s role It is important that nurses listen carefully when people express concerns about changes in a family member s behaviour, personality, mood, social interactions and activities of daily life, and realise that not all people with dementia have memory problems as the main sign or symptom. Nurses working in various settings have an important role in understanding young-onset dementia and recognising the signs and symptoms, so that patients can be referred to and assessed by the relevant specialist team as early as possible to ensure appropriate support is given. Although younger people living with dementia should be supported by specialist teams and services, in reality these might be limited or non-existent in the local area, which can place significant strain on family members. Nurses should also be aware that, as a result of the complex emotions and grieving process experienced by family members following a diagnosis, they may need extra time and support to manage the situation. When dealing with younger people living with dementia and their families, nurses should use listening and communication skills to identify what is being said and also the underlying message and emotions. NURSING STANDARD july 22 :: vol 29 no 47 ::
5 Conclusion There has been an increase in the number of people diagnosed with dementia in the UK, and this figure is predicted to increase as people live longer. Diagnosing young-onset dementia is made more complex by the different causes and presentations of dementia. Research has indicated that it can take three years on average to obtain an accurate diagnosis because of the lack of specialist knowledge and skills among healthcare professionals. Specialist support and other services for younger people living with dementia is patchy throughout the UK. This can lead to families experiencing unnecessary stress, relationship problems, work problems, social isolation and depression. Families that receive the right support from specialist practitioners can adapt to the diagnosis and the changes it brings, and develop coping strategies and strengths so they can live positively with dementia NS Acknowledgement Nursing Standard wishes to thank Karen Harrison Dening, Director of Admiral Nursing, Dementia UK, for co-ordinating and developing the Dementia series. References Allen J, Oyebode J, Allen J (2009) Having a father with young onset dementia. The impact on well-being of young people. Dementia. 8, 4, Alzheimer s Disease International (2012) World Alzheimer Report 2012: Overcoming the Stigma of Dementia. tinyurl.com/m9k8dfh Alzheimer s Society (2012) Younger People with Dementia. Factsheet 440LP. tinyurl.com/nt47qar Alzheimer s Society (2014) Dementia 2014 Infographic. Arai A, Matsumoto T, Ikeda M, Arai Y (2007) Do family caregivers perceive more difficulty when they look after patients with early onset dementia compared to those with late onset dementia? 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A practical method for grading the cognitive state of patients for the clinicians. Journal of Psychiatric Research. 12, 3, Gelman CR, Greer C (2011) Young children in early onset Alzheimer s disease families: research gaps and emerging service needs. American Journal of Alzheimer s Disease and Other Dementias. 26, 1, Gilliard J, Means R, Beattie A, Daker-White G (2005) Dementia care in England and the social model of disability: lessons and issues. Dementia. 4, 4, Harris PB, Keady J (2009) Selfhood in younger onset dementia: transitions and testimonies. Aging and Mental Health. 13, 3, Hutchinson K, Roberts C, Kurrie S, Daly M (2014) The emotional well-being of young people having a parent with young onset dementia. Dementia. doi: / Jefferies K, Agrawal N (2009) Early onset dementia. Advances in Psychiatric Treatment. 15, 5, Johnson A (2010) Learning lessons: how I live with my Alzheimer s disease. The Journal of Mental Health Training, Education and Practice. 5, 3, 7-9. Kelley BJ, Boeve BF, Josephs KA (2008) Young onset dementia: demographic and etiologic characteristics of 235 patients. Archives of Neurology. 65, 11, Luscombe G, Brodarty H, Freeth S (1998) Younger people with dementia: diagnostic issues, effects on carers and use of services. International Journal of Geriatric Psychiatry. 13, 5, Mohs RC, Knopman D, Petersen RC et al (1997) Development of cognitive instruments for use in clinical trials of antidementia drugs: additions to the Alzheimer s Disease Assessment Scale that broaden its scope. The Alzheimer s Disease Cooperative Study. Alzheimer Disease and Associated Disorders. 11, Suppl 2, National Institute for Health and Care Excellence, Social Care Institute for Excellence (2006) Dementia: Supporting People with Dementia and their Carers in Health and Social Care. Clinical guideline No. 42. NICE, London. Page S, Keady J (2010) Sharing stories: a meta-ethnographic analysis of 12 autobiographies written by people with dementia between 1989 and Ageing and Society. 30, 3, Rose K, Yu F, Palmer J, Richeson N, Burgener S (2010) Care considerations for persons with early onset dementia: a case studies analysis. Alzheimer s Care Today. 11, 3, Rosness TA, Mjørud M, Engedal K (2011) Quality of life and depression in carers of patients with early onset dementia. Aging and Mental Health. 15, 3, Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD (2010) The diagnosis of young-onset dementia. The Lancet Neurology. 9, 8, Royal College of Psychiatrists, Alzheimer s Society (2006) Services for Younger People with Alzheimer s Disease and Other Dementias. tinyurl.com/d2966uc (Last accessed: June ) van Vliet D, de Vugt ME, Bakker C et al (2011) Caregivers perspectives on the pre-diagnostic period in early onset dementia: a long and winding road. International Psychogeriatrics. 23, 9, Werner P, Stein-Shvachman I, Korczyn AD (2009) Early onset dementia: clinical and social aspects. International Psychogeriatrics. 21, 4, july 22 :: vol 29 no 47 :: 2015 NURSING STANDARD
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