The Needs of Patients With Early Onset Dementia

Abstract

Aim:

The burden of early-onset dementia (EOD) is often overshadowed by an ageing population.

Methods:

A questionnaire comprising 12 items was completed by 18 patients with EOD (15 with Alzheimer’s disease [AD] and 3 with frontotemporal dementia) and 39 caregivers (20 spouses, 8 children, 7 siblings, 2 carers, and 2 health professionals). The onset of patients’ symptoms was prior to the age of 65 years. Caregivers had to be supporting someone who matched these criteria.

Results:

Early recognition and referral was perceived as the principle area of improvement by both patients (94.4%) and carers (69.2%; P < .0002). Patients evaluated “diagnosis” as the area of most need (88.9%) compared with caregivers who rated “treatment” (69.2%) as their principle concern.

Conclusion:

The perceived concerns of patients with EOD differ from that of the caregivers. Continued consumer involvement is essential in ensuring a tailored approach to young people with dementia.

Introduction

Dementia is a significant cause of morbidity and mortality in the elderly individuals, though its burden in younger individuals is often overshadowed by an ageing population. ¹ As a result, dementia in young adults is typically misdiagnosed, underrecognized, and inadequately managed with limited services. ^2,3

It is estimated that early-onset dementia (EOD) affects 67 to 81 per 100 000 individuals aged between 45 and 65 years. ^{4 –6} However, obtaining an accurate diagnosis of EOD is challenging and requires the consideration of an extensive list of differential diagnoses. ⁷ While Alzheimer’s disease (AD) remains the most common dementing illness in EOD etiology, ² it is only representative of a third of cases. ⁸

Misdiagnosis is common and has been reported in 30% to 50% of patients with EOD. ⁶ These figures have often been attributed to poor clinician understanding of the disease ⁵ and its symptomatic progression. ⁸ In addition, application of the same diagnostic criteria for both late-onset dementia (LOD) and EOD is common, despite the established differences in clinical manifestations. ⁸ For example, patients with EOD can experience neuropsychiatric symptoms disproportionate to their cognitive defects, ⁹ including myoclonus, speech production deficits, and convulsive paraperesis with or without hallmark episodic memory loss. ^6,10 Consequently, an early diagnosis and therefore adequate management of these patients are seldom achieved. ²

The psychosocial burden of EOD differs greatly from patients with LOD, given they are more likely to be employed, living independently, and still within their reproductive or child rearing period of life. ⁸ Maintaining relationships becomes increasingly challenging, and often carers of patients with EOD have significantly higher levels of stress and depression than those carers of LOD patients. ³ However, existing health services are predominantly geared toward elderly patients ⁸ and are resultantly ill equipped to appropriately support patients with EOD and their families.

Eliciting the experiences and perspectives of patients with EOD and their caregivers is essential in understanding the needs of this population and the areas requiring improvement in current care standards. However, this consumer participation is largely absent. ⁸ This article asks questions to patients and their caregivers to provide insight into the appropriateness of existing health services and management of EOD within an Australian context.

Methods

A public symposium was conducted on November 27, 2011, at the University of Western Australia. Informative flyers promoting the event were sent via mail to all practice patients, 4 local universities, and Alzheimer’s Australia for distribution. The symposium included information regarding the current diagnosis, treatment, and management of EOD in addition to the discussion of emerging research in the field. While EOD was the focus of the symposium, all patients, families, and interested members of the public were invited to attend.

At the beginning of the symposium, the participants were asked to voluntarily complete a questionnaire comprising 12 questions on demographics, dementia onset, time to accurate diagnosis, living and caring arrangements, perceived needs of patients, perceived areas needing improvement, and counseling services. Each item was developed from our own clinical experience with patients with EOD and their families, spanning many years. Additional space at the end of the questionnaire was provided for participants to leave any further comments. Participants were informed that their responses would be utilized for research purposes. All collected questionnaires were de-identified and coded prior to the analysis.

To be included in the analysis, patients had to report that the onset of their symptoms started before the age of 65 years and had a diagnosis or were under consideration for a diagnosis of EOD. Caregivers had to be supporting someone who matched these criteria.

Statistical Analysis

Chi-square analysis for independence was only performed when all expected values were >1.0 and at least 80% of the expected values were >5.0. In addition, all data were analyzed using the chi-square test for trend. In this instance, performing a nonparametric chi-square test was not valid.

Results

There were 83 participants assessed for analysis, of which 18 patients and 39 caregivers were deemed to have met our inclusion criteria (Figure 1). The chi-square test for trend indicated significant, overall trends between patients, carers, and perceived areas of improvement in EOD (P = .0002). Statistical analysis further revealed a significant overall trend between patients and perceived areas of need (P = .019), though it was not significant for the caregiver group.

Figure 1.

Participant inclusion.

Patients With EOD

The patient sample was predominately female (n = 10, 55.6%), had a mean age of 59.13 years, and had a range of symptomatic onset between 40 and 65 years. The majority of patients had been diagnosed with AD (n = 14, 77.8%) or frontotemporal dementia ([FTD] n = 3, 7.7%). One patient was yet to receive a diagnosis for dementia. Only 3 patients (16.7%) had been diagnosed within 12 months of their dementia onset, with the majority of diagnoses achieved between 3 and 10 years from symptomatic onset (n = 12, 66.7%). More than 95% of our patients were currently cared for in their own home. No patients were in residential care facilities.

Patients highlighted the diagnosis (n = 16, 88.9%), treatment (n = 15, 83.3%), and research (n = 12, 66.7%) of EOD as principle needs (Table 1). Early recognition and referral was reported as the primary area requiring improvement (n = 17, 95%), while accurate assessment and diagnosis (n = 11, 61.1%) and access to specialist services (n = 10, 55.6%) were also described (Table 2). While additional comments given by 4 patients (22.2%) further highlighted these areas, support from both general practitioners and the government were outlined (Table 3).

Table 1.

Areas of Need in EOD.

Areas of need	Patients, n = 18 (%)	Caregivers, n = 39 (%)
Diagnosis	16 (88.9)	26 (66.7)
Treatment	15 (83.3)	27 (69.2)
Research	12 (66.7)	22 (56.4)
Daily assistance	7 (58.3)	18 (46.2)
Care of others	7 (58.3)	24 (61.5)
Management	4 (22.2)	19 (48.7)
Respite care	4 (22.2)	16 (41.0)

Abbreviation: EOD, early-onset dementia.

Table 2.

Areas of Improvement in EOD.

Areas of improvement	Patient, n = 18 (%)	Caregivers, n = 39 (%)
Early recognition and referral	17 (94.4)	27 (69.2)
Accurate assessment and diagnosis	11 (61.1)	21 (53.8)
Access to specialist services	10 (55.6)	22 (56.4)
Carer support	9 (50.0)	21 (56.4)
Mental health of patient and carer	9 (50.0)	18 (46.1)
Professional and public education	9 (50.0)	18 (46.1)
Adequate financial support	8 (44.4)	13 (33.3)
Information and resources	5 (27.8)	16 (41.0)
Support for young children and adolescents	4 (22.1)	7 (17.9)
Resources and information provided to untrained carers	3 (16.7)	15 (38.5)
Employment	3 (16.7)	9 (23.1)
Driving assessment	3 (16.7)	12 (30.8)
Resource access	2 (11.1)	4 (10.3)
Assistive technologies	2 (11.1)	9 (23.1)
Nursing home and day hospital admission	1 (5.6)	6 (15.4)
Sexual behavior issues	1 (5.6)	4 (10.3)
Adequacy as a carer	1 (5.6)	9 (23.1)
Rural patient care	0 (0.0)	5 (12.8)
Legal aspects of work	0 (0.0)	3 (7.7)
Separation anxiety and shadowing	0 (0.0)	11 (28.2)

Abbreviation: EOD, early-onset dementia.

Table 3.

Additional Comments From Patients and Caregivers.

Patient (gender, age)	Caregivers (gender, age)
(Male, 43) “Need for early detection and prompt action.”	(Female, 39) “General practitioner education, public education.”
(Female, 68) “Ready access to specialist care.”	(Male, 68) “Importance of carer’s perspective in management and consultation—ie, often the ‘real’ problem is missed.”
(Female, 59) “Referrals should be actioned immediately.”	(Female, 53) “Involvement of local council to form support groups.”
(Female, 59) “General practitioners must listen to the concerns of the family.”	(Male, 55) “Notification of government and social workers once diagnosis is made.” (Male, 70) “Adequate federal funding.”
(Female, 67) “There is not enough government support.”	(Female, 25) “Residential care specific for adults (not the elderly individuals).”
	(Female, 63) “Respite.”
	(Female, 56) “Financial counseling, awareness of patient and carer stresses, concerns for carer’s mental health.”
	(Female, 70) “Group meetings, one-to-one counseling, and ongoing counseling once the patient is in residential care.”
	(Female, 39) “More education on preventative ‘exercises’ and coping strategies.”
	(Female, 69) “Concerns of coping with an increasingly difficult spouse with dementia, assistance for carers.”
	(Female, 64) “Training for carers, especially males.”
	(Male, 66) “Information booklet distributed to carer once diagnosis is made.”
	(Female, 64) “We are eager to learn.”

All patients acknowledged the importance of counseling services following the diagnosis of EOD. However, counseling for patients (n = 15, 83.3%) and spouses (n = 11, 61.1%) were deemed the most needed.

The EOD Caregivers

The sample of caregivers comprised spouses (n = 20, 51.3%), children (n = 8, 20.5%), siblings (n = 7, 17.9%), carers (n = 2, 5.1%), and health professionals (n = 2, 5.1%) of patients with EOD. The sample was predominately female (n = 24, 61.5%) and had a mean age of 53.13 years. Of the patients that they cared for, the majority had been diagnosed with AD (n = 25, 64.1%) or FTD (n = 9, 23.1%). Four patients had not received a diagnosis for their dementia symptoms. Most patients were diagnosed within 3 to 4 years of their symptom onset (n = 12, 66.7%), with only 6 patients (15.4%) diagnosed within 12 months.

Three patients (7.7%) had been placed in residential care, while the majority had continued to live at home (n = 35, 89.7%). Caregivers identified the treatment (n = 27, 69.2%), diagnosis (n = 26, 66.7%), and research (n = 22, 56.4%) of EOD as the primary areas of need for patients (Table 1). Management (n = 19, 48.7%) was an additional area of concern expressed by caregivers that was not as highly ranked among patients. Early recognition and referral was also expressed as the principle area needing improvement by the caregivers (n = 27, 69.2%). Information and resources (n = 16, 41%), driving assessment (n = 12, 30.8%) in addition to nursing home, and hospital day admission (n = 6, 15.4%) were also the highlighted areas requiring improvements, which were not considered high in the patient sample.

The majority of caregivers (n = 29, 74.4%) identified the importance of counseling spouses and carers (n = 22, 56.4) following EOD diagnosis. Of all, 14 caregivers (35.9%) provided additional comments centering on the importance of ongoing financial and emotional counseling, training, and information for carers, in addition to the involvement of local government bodies (Table 3).

Discussion

While deficiencies in EOD management can only be remedied with the insight and experience of service users, the integration of patient and carer perspective in the development of our understanding of the disease, its management, and appropriate services is largely absent. ⁸ This consumer participation has become increasingly significant as we begin to acknowledge that dementia in younger people is different than in the elderly individuals ¹ and therefore requires a different approach.

Establishing an accurate diagnosis of EOD provides notable challenges for clinicians who must consider an extensive list of etiologies and assess the diverse symptomatic presentations of EOD. ^1,2 Diagnosis is particularly problematic when young patients have a history of psychiatric disorders, ⁶ given the frequency of neuropsychiatric characteristics in the course of EOD, which often overshadows cognitive deficits. ^6,9 In the elderly individuals, these signs often trigger the timely diagnosis of dementia. ¹¹ However, it seems that the patient’s young age, failure to recognize disease progression, and the adherence to LOD diagnostic criteria attribute to deterring clinicians from considering dementia in younger populations. ^5,8,11

Luscombe et al ⁵ revealed that 71% of EOD carers reported that obtaining an accurate and early diagnosis was problematic and had several trickling effects including increased financial burden and psychosocial strain upon carers and children. This is further highlighted in this study, with both patients and caregivers revealing “early recognition and referral” as the principle area needing improvement and supports the World Alzheimer’s Report findings. ¹² Several studies have demonstrated that caregivers of patients with EOD report significantly higher psychological and physical morbidity when compared with caregivers of patients with LOD, ^3,6,13 considering that they are more likely to be employed, living independently, and still within their reproductive or child rearing period of life. ⁸ The increased burden is often further exacerbated, given the duration between symptomatic onset and diagnosis of EOD often exceeds that of LOD. ^8,11 However, our caregiver sample interestingly highlighted “treatment” as the principle area of need in EOD care, which may reflect a perceived adequacy of EOD support services and management.

While the plight of the EOD caregiver is ever emerging within the literature, there are very few studies that described the perspectives of young patients themselves. Notably, Bakker et al ¹⁴ documents the perspectives of a patient with EOD and his caregiver in a single case study; while this study is valuable in highlighting the difficulties of decision making and the burden of lengthy diagnosis, it only represents 1 story and cannot be evaluated in isolation. Despite numerous studies exploring the perspectives of patients with LOD, these findings cannot be utilized as a substitute for the specific needs of the EOD population.

Our findings highlight the importance of eliciting the experiences and perspectives of patients with EOD and their caregivers in understanding the needs of this population and the areas requiring improvement in current care standards, particularly within an Australian context. Further research involving patients with EOD from different cultural and social backgrounds is warranted to continue understanding the highly specific needs.