Abstract
Background/objectives:
Timely access to palliative care, a specialty focusing on improving quality of life for patients with serious medical conditions, is central to patients with prion disease. To optimize evidence-informed utilization of palliative care resources, we systematically evaluated the frequency of clinical features amenable to supportive care, the frequency and patterns of referral to specialty palliative care, and the methods of palliative care delivery in patients with prion disease across a multi-center healthcare system.
Methods:
A retrospective review was conducted of electronic medical records of patients diagnosed with definite (neuropathologically or genetically confirmed) or probable prion disease (meeting established clinical criteria for Creutzfeldt-Jacob disease) in inpatient and outpatient settings from January 2012 to August 2023 across the Mayo Clinic enterprise. Symptoms and signs amenable to supportive interventions were systematically abstracted, and associations with utilization of palliative care services were considered (primary outcome). Statistical analyses were performed with SPSS, version 28.0.
Results:
172 patients with symptomatic prion disease were identified (median age at symptom onset, 65.4 years, range 20.2–85.4; 50.6% female). 165 (94.8%) patients experienced ≥ 1 symptom or sign amenable to supportive care. 113 (65.7%) patients accessed palliative care resources, including hospice care (61.1%), palliative care consultation (12.4%), or both (26.5%). Behavioral changes (OR 2.70, 95%CI 1.15, 6.32) and constipation (OR 4.92, 95%CI 1.02, 23.60) were independently associated with referral for palliative care services. Emergency department visits (OR 2.29, 95%CI 1.04, 5.03) and hospital admissions (OR 4.32, 95%CI 2.21, 8.47) were also associated with referrals. Hospice care and inpatient palliative care services were accessed more promptly (median 1.0 days, range 0 – 133.0) than outpatient consultations (median 19.0 days, range 6.0 – 64.0; P < 0.001).
Discussion:
Despite the terminal nature of prion disease and the near universal prevalence of symptoms and signs amenable to supportive care, >1/3rd of patients with prion disease did not access specialty palliative care resources. These findings highlight an opportunity to promote early access to palliative care resources that support symptom management and reinforce patient autonomy by clarifying goals of care and advance care planning for patients with prion disease.
Introduction:
Prion diseases are universally fatal disorders owing to the formation and spread of prions throughout the brain. Creutzfeldt-Jakob disease (CJD), the most common form of prion disease, is estimated to affect 1–2 per million Americans annually, with highest incidence in individuals ≥ 75-years-old [1, 2]. There are no known cures or therapies that meaningfully alter the course of prion disease [3]. Accordingly, optimal clinical care emphasizes active surveillance and management of symptoms, support and education of caregivers, and anticipatory guidance designed to address care preferences and optimize quality of life for persons living with prion disease [4, 5].
Palliative care focuses on improving quality of life for patients with serious or advanced medical conditions by actively managing symptoms, clarifying goals of care, planning end-of-life care, and supporting caregivers [6, 7]. Specialty palliative care services may be delivered by a multi-disciplinary team (including board-certified physicians in palliative care) in outpatient and inpatient settings, and through hospice care. Input from palliative care specialists is central to the care of patients with prion disease—many of whom present with rapidly progressive dementia and experience precipitous declines in health and function [8]. In this context, palliative care team members may enhance the care of patients with prion disease by prescribing medications to manage disturbing symptoms, improving access to non-pharmacologic supports (e.g., psychological counseling, spiritual and instrumental support, behavioral therapies), and supporting after-death care by facilitating discussions concerning brain autopsies and funeral arrangements [4, 9–13].
There is a need to optimize access to these services for patients and families affected by prion diseases [9]; yet, few studies have evaluated the factors that associate with specialty palliative care utilization (or underutilization) in this population [9, 10, 14]. Recognizing the need for evidence to improve care delivery in patients with prion disease, we systematically evaluated the frequency of symptoms and signs that are likely to benefit from supportive care, the association between these symptoms and signs and utilization of palliative care services, patterns of referral to specialty palliative care services, and mode of palliative care delivery (e.g., inpatient/outpatient consultation, hospice care) in patients with prion disease assessed across a multi-center healthcare system.
Methods:
Standard Protocol Approvals, Registrations, and Patient Consents
Study procedures, policies, and conduction were approved by an ethical standards committee (the Mayo Clinic Institutional Review Board). A waiver of consent was granted for the use of retrospective deidentified patient data. This study followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) reporting guideline for cohort studies.
Participant selection
Mayo Clinic Enterprise database search software was used to identify patients diagnosed with prion disease from January 2012 to August 2023 at Mayo Clinic in Rochester (Minnesota), Jacksonville (Florida), and Scottsdale (Arizona). Specifically, electronic medical records were searched using International Classification of Diseases codes (versions 9.0 and 10.0) for prion disease and free text searches for “prion disease”, “Creutzfeldt-Jakob disease”, and “CJD”. Selected cases were independently reviewed by three coauthors [RZ, YDP, GSD] to identify patients who met criteria for definite prion disease (pathologically or genetically confirmed) or probable CJD. Probable CJD was defined in accordance with Center for Disease Control criteria, requiring a neuropsychiatric disorder with detection of prions via real-time quaking-induced assay; or rapid progressive dementia with at least two of myoclonus, visual or cerebellar signs, pyramidal/extrapyramidal signs, or akinetic mutism; and brain magnetic resonance imaging (MRI) compatible with CJD (i.e., high signal in caudate/putamen and/or at least two cortical regions [temporal, parietal, occipital] either on diffusion-weighted imaging or fluid attenuated inversion recovery), detection of periodic sharp wave complexes on electroencephalogram, or a positive (elevated) protein 14-3-3 in cerebrospinal fluid (CSF) in a patient with symptomatic duration of less than 2 years [15]. Asymptomatic carriers of genetic variants associated with prion disease were excluded from analyses (n=2), given our focus on patients with symptomatic prion disease.
Data collection
Electronic medical records, including hospice care records and scanned external documents (when available), were systematically searched by two authors (RZ and YDP), and data were entered into a secure, online, study-specific REDCap database. Variables included demographics (age, sex, self-reported race and ethnicity), medical comorbidities, age at symptom onset, initial dominant clinical phenotype, and symptoms and signs likely to benefit from supportive care. These variables were prespecified by the author team in consultation with a palliative care specialist (MTR), focusing on clinical features that are common in patients with prion disease, likely to impair quality of life, routinely assessed and managed by palliative medicine teams, and amenable to pharmacologic and non-pharmacologic interventions. Features that are routinely discussed as part of the anticipatory guidance provided by palliative and hospice teams were also included, regardless of potential treatment responsiveness. Variables included general symptoms (i.e., pain, nausea, constipation, decreased appetite, sleep disturbances, dysphagia, fatigue), neuropsychiatric symptoms (i.e., anxiety or depression, behavioral changes of agitation or combativeness, psychoses, apathy or withdrawal, and delirium), neurologic features (i.e., gait disturbances, weakness, myoclonus, dystonia / rigidity, tremors, seizures, aphasia, and altered consciousness), receipt of palliative care services, referring provider/team, time of referral, palliative care mode of delivery (inpatient consult with a specialist, outpatient visit with a specialist, hospice), goals of care (living environment, hospitalization plan, and nutritional plan), and advance care planning (healthcare surrogate / medical power of attorney, living will / end-of-life wishes, code status, and plans for hospice care). Date and location of death and results of neuropathological evaluation of prion disease were recorded when known.
Inpatient and outpatient palliative care consultations are available across the Mayo Clinic healthcare system, although the number of palliative care specialists varies based on the size of the practice. Mayo Clinic in Rochester (Minnesota) and Jacksonville (Florida) have palliative care providers who are dually trained in neurology. Mayo Clinic in Rochester has an associated hospice agency.
Statistical Analysis
Demographic and clinical characteristics were summarized using descriptive statistics. Associations between demographic and clinical features and access to palliative care services were evaluated using Chi-square or Fisher exact tests for categorical variables and Mann-Whitney U-tests for continuous variables. Univariate analyses were not corrected for multiple comparisons; rather, potentially clinically meaningful associations (univariate comparisons with p < 0.10) were entered into a multivariate logistic regression model to identify factors independently associated with accessing palliative care services, controlling for age, sex, and race.
Statistical analyses were performed in SPSS, version 28.0 (IBM). P-values were 2-sided, with statistical significance established at P < 0.05. Data were analyzed from May 2024 to August 2024.
Data availability
Anonymized data that support the findings of this study will be made available upon request from a qualified investigator to the corresponding author.
Results:
172 patients with symptomatic prion disease were identified, including 94 (54.7%) patients with probable sporadic CJD, 67 (39.0%) patients with definite (neuropathologically confirmed) sporadic CJD, and 11 (6.4%) patients with genetic prion disease. 101 patients were seen at Mayo Clinic in Rochester (Minesota), 60 patients at Mayo Clinic in Jacksonville (Florida), and 10 patients at Mayo Clinic in Scottsdale (Arizona). Males and females were evenly distributed within the cohort, with a preponderance of non-Hispanic White participants (87.8%; Table 1). The median symptomatic duration of prion disease was 8.0 months (range 0 – 56.0).
Table 1:
Baseline characteristics and clinical features of patients with symptomatic prion disease, stratified by palliative care utilization.
| Patient characteristics | All Patients | Specialty palliative care provided? | P-value | |
|---|---|---|---|---|
| Yes | No | |||
| Patients with symptomatic prion disease, n (%) | 172 | 113 (65.7) | 59 (34.3) | -- |
| Symptomatic disease duration, median months (range) | 8.0 (0 – 56.0) |
6.0 (0 – 56.0) |
11.0 (1.0 – 39.0) |
0.035 |
| Demographic characteristics | ||||
| Age at symptom onset, median years (range) | 65.4 (20.2, 85.4) |
66.8 (32.3, 85.4) |
63.9 (20.2, 82.8) |
0.093 |
| Sex | ||||
| Male, n (%) | 85 (49.4) | 58 (68.2) | 27 (31.8) | |
| Race | ||||
| Other/not reported, n (%) | 14 (8.1) | 9 (64.3) | 5 (35.7) | |
| General symptoms | ||||
| Sleep disturbances, n (%) | 81(47.1) | 53 (65.4) | 28 (34.6) | 0.95 |
| Pain, n (%) | 39 (22.7) | 29 (74.4) | 10 (25.6) | 0.20 |
| Fatigue, n (%) | 38 (22.1) | 24 (63.2) | 14 (36.8) | 0.71 |
| Dysphagia, n (%) | 24 (14.0) | 14 (58.3) | 10 (41.7) | 0.41 |
| Constipation, n (%) | 16 (9.3) | 14 (87.5) | 2 (12.5) | 0.054 |
| Decreased appetite, n (%) | 14 (8.1) | 12 (85.7) | 2 (14.3) | 0.10 |
| Nausea, n (%) | 11 (6.4) | 6 (54.5) | 5 (45.5) | 0.42 |
| Neuropsychiatric symptoms | ||||
| Agitation or combativeness, n (%) | 53 (30.8) | 41 (77.4) | 12 (22.6) | 0.03 |
| Depression or anxiety, n (%) | 53 (30.8) | 33 (62.3) | 20 (37.7) | 0.53 |
| Psychoses (hallucinations or delusions), n (%) | 49 (28.5) | 36 (73.5) | 13 (26.5) | 0.18 |
| Apathy/withdrawal, n (%) | 16 (9.3) | 12 (75.0) | 4 (25.0) | 0.41 |
| Delirium, n (%) | 4 (2.3) | 3 (75.0) | 1 (25.0) | 0.69 |
| Neurologic features | ||||
| Gait disturbances, n (%) | 137 (79.7) | 86 (62.8) | 51 (37.2) | 0.11 |
| Myoclonus, n (%) | 74 (43.0) | 45 (60.8) | 29 (39.2) | 0.24 |
| Hyperkinetic movements, n (%) | 69 (40.1) | 49 (71.0) | 20 (29.0) | 0.23 |
| Aphasia, n (%) | 36 (20.9) | 28 (77.8) | 8 (22.2) | 0.09 |
| Dystonia/rigidity, n (%) | 33 (19.2) | 24 (72.7) | 9 (27.3) | 0.34 |
| Weakness, n (%) | 29 (16.9) | 17 (58.6) | 12 (41.4) | 0.38 |
| Seizures, n (%) | 6 (3.5) | 4 (66.7) | 2 (33.3) | 0.96 |
| Altered consciousness, n (%) | 2 (1.2) | 2 (100.0) | 0 (0) | 0.30 |
| Initial dominant presentation | ||||
| Cerebellar, n (%) | 34 (19.8) | 22 (64.7) | 12 (35.3) | 0.89 |
| Global, n (%) | 28 (16.3) | 19 (67.9) | 9 (32.1) | 0.79 |
| Visual/Heidenhain variant, n (%) | 27 (15.7) | 17 (63.0) | 10 (37.0) | 0.74 |
| Amnestic (Alzheimer disease-like), n (%) | 24 (14.0) | 13 (54.2) | 11 (45.8) | 0.20 |
| Language, n (%) | 15 (8.7) | 14 (93.3) | 1 (6.7) | 0.045 |
| Dysexecutive, n (%) | 13 (7.6) | 8 (61.5) | 5 (38.5) | 0.74 |
| Corticobasal syndrome, n (%) | 10 (5.8) | 7 (70.0) | 3 (30.0) | 0.77 |
| Psychiatric, n (%) | 9 (5.2) | 3 (33.3) | 6 (66.7) | 0.050 |
| Emergency department visit / hospital admission | ||||
| Emergency department visit | 46 (26.7) | 36 (78.3) | ||
| No, n (%) | 49 (38.9) | |||
| Admission into the hospital | 95 (55.2) | 76 (80.0) | ||
| No, n (%) | 40 (51.9) | |||
| Location of death | ||||
| Home | 56 (32.6) | 47 (83.9) | 9 (16.1) | 0.24 |
| Inpatient hospice | 22 (12.8) | 22 (100.0) | 0 (0) | |
| Acute care hospital | 6 (3.5) | 5 (83.3) | 1 (16.7) | |
| Skilled nursing facility | 5 (2.9) | 4 (80.0) | 1 (20.0) | |
Symptoms and signs likely to benefit from supportive care were present in almost all patients (165/172, 95.9%), including gait disturbances (79.7%), sleep disruption (47.1%), myoclonus (43.0%), and hyperkinetic movements (40.1%; Table 1). Most patients had ≥ 3 symptoms/signs (141/172, 82.0%; Figure 1). Isolated symptoms/signs were present in 6 patients (3.5%) and altogether absent in 7 patients (4.1%). Patients with multiple symptoms and signs were more likely to receive palliative care services compared to patients with isolated (or no) symptoms/signs (OR = 3.39, 95%CI = 1.06, 10.87). Despite the preponderance of active symptoms and signs, only 113 (113/172, 65.7%) patients accessed specialty palliative care during their illness course. These included 59 (52.2%) patients seen at Mayo Clinic in Rochester, 46 (40.7%) patients seen at Mayo Clinic in Florida, and 8 (7.1%) patients seen at Mayo Clinic in Arizona. Palliative care resources were accessed a median of 4.0 months (range: 0 – 43.0) after symptom onset. Median disease duration in these patients was 6.0 months (range: 0 – 56.0); thus, most patients were in the last trimester of their symptomatic course when palliative care services were initiated. Wait time between referral and receipt of specialty palliative services was low (median of 2.5 days in the 92 patients with available data; range 0 – 133.0). Hospice care and inpatient palliative care services (median 1.0 days, range 0 – 133.0) were accessed more promptly following referral than outpatient consultations (median 19.0 days, range 6.0 – 64.0; P < 0.001). Table 2 summarizes the mode of delivery of specialty palliative care services and referral patterns.
Figure 1: Number of symptoms and signs likely to benefit from supportive care in patients with prion disease.
Stacked bar graph depicts the relative proportions of patients who received palliative care, stratified by the number of symptoms and signs likely to benefit from supportive care.
Table 2:
Mode of delivery of specialty palliative care services and referral patterns.
| Specialty palliative care utilization | n (%) |
|---|---|
| Mode of delivery | 113 |
| Hospice care† | 69 (61.1) |
| - Hospice contract bed at Mayo Clinic | 2 (2.9) |
| Specialty palliative care consultation | 14 (12.4) |
| - Inpatient + outpatient | 1 (0.9) |
| Hospice + specialty consult | 30 (26.5) |
| Referring provider | 113 |
| Outpatient neurologist | 49 (43.4) |
| Neurology inpatient service | 42 (37.2) |
| Internal medicine inpatient service | 12 (10.6) |
| Primary care provider (outpatient) | 5 (4.4) |
| Other/unknown | 5 (4.4) |
| Reason for referral | 113 |
| Diagnosis of prion disease (management of associated symptoms and signs) | 102 (90.3) |
| Rapid declining health status (diagnosis pending) | 9 (8.0) |
| Unclear | 2 (1.8) |
| Factors associated with non-referral | 59 |
| Care provider | 36 (61.0) |
| - Neurology inpatient service | 2 (3.4) |
| - Unknown | 1 (1.7) |
| Patient/family declined referral | 3 (5.1) |
| Lost to follow-up | 20 (33.9) |
Detailed hospice records were available for review in 25/69 (36.2%) patients
We further explored the association between demographic and clinical features and palliative care utilization (Table 1). Behavioral changes (OR = 2.23, 95%CI = 1.06, 4.68) and dominant clinical phenotypes characterized by language impairment (OR = 8.20, 95%CI = 1.05, 64.00) were associated with greater odds of accessing palliative care resources. Potentially clinically meaningful associations between access to palliative care services and constipation (OR = 4.03, 95%CI = 0.88, 18.37), aphasia (OR = 2.10, 95%CI = 0.89, 4.96), and dominant psychiatric phenotype (OR = 0.24, 95%CI = 0.06, 1.00) could not be excluded. The above variables were entered into a multivariate logistic regression model to identify factors independently associated with access to palliative care resources. The presence of behavioral changes (agitation or combativeness; OR = 2.70, 95%CI = 1.15, 6.32), and constipation (OR = 4.92, 95%CI = 1.02, 23.60) were independently associated with access to palliative care services, after controlling for differences in age, sex, and non-Hispanic White race/ethnicity. A potentially clinically meaningful association between access to palliative care services and decreased appetite (OR 4.36, 95%CI = 0.82, 23.09), dominant presentation characterized by language deficits (OR = 6.80, 95%CI = 0.78, 59.28), and psychiatric features (OR = 0.18, 95%CI = 0.03, 1.08) could not be excluded (eTable). We also examined the association between emergency department assessments and hospital admissions, and access to palliative resources. At least one emergency department visit (OR = 2.29, 95%CI = 1.04, 5.03) or hospital admission during the illness course (OR = 4.32, 95%CI = 2.21, 8.47) was associated with greater odds of accessing palliative care resources.
Next, we considered the frequency with which patients accessed other benefits typically associated with palliative care, specifically counseling concerning goals of care (e.g., living environment, nutritional plan, hospitalization plan), and advance care planning (e.g., healthcare surrogate(s) / medical power of attorney, living will / end-of-life wishes, code status, hospice). Less than half of patients (81/172, 47.1%) had at least one goal of care clarified and documented—most often preferred living environment (74/81, 91.4%). Hospitalization plan and nutritional plan were reviewed far less frequently (Figure 2A). The primary team (mostly neurology providers admitting, assessing, or directing investigations and management in inpatient and outpatient settings) clarified goals of care for 53/81 patients (65.4%). In addition, one or more areas of advance care planning were discussed and documented for 114 patients (66.3%)—most commonly plans for hospice care (98/114, 86.0%; Figure 2B). The primary team (alone or in combination with palliative care consultants) supported advance care planning for most patients (92/114, 80.7%).
Figure 2: Goals of care and advance care planning in patients with prion disease.
Bar graphs depict the number of patients who had (A) goals of care (i.e., living environment, nutritional plan, hospitalization plan) and (B) advanced care plans clarified (i.e., plans concerning healthcare surrogate(s)/medical power of attorney, living will/end-of-life wishes, code status, hospice care). Results are stratified by care provider (primary team and palliative care consultants).
At the time of analyses, 167 patients had died of complications of prion disease (97.1%). Median time from first encounter with palliative care specialists to death was 4.0 weeks (range: 0.0 – 100.0). There was an association between speed of decline and palliative care resource utilization, with shorter median symptomatic disease duration (i.e., survival) in patients who received palliative care resources (6.5 months; range: 0.0–56.0) versus those who did not (11.0 months; 1.0–39.0; P = 0.035).
Discussion:
Symptoms and signs likely to benefit from supportive care were present in almost all patients with prion disease assessed across our multi-center healthcare system, with most patients experiencing multiple symptoms/signs; yet, more than a third of patients did not access specialty palliative care services. Behavioral changes (agitation or combativeness) and constipation were independently associated with greater odds of referral for palliative care services. Patients were more likely to be referred for palliative care services following an emergency department visit or hospitalization. Advance care planning was discussed and documented in almost two-thirds of patients, with goals of care clarified in less than half. When palliative care services were provided, they were often delivered in the final months of life, typically via hospice care. These findings highlight an opportunity to improve the care of patients with prion diseases by promoting early access to specialty palliative care resources.
Engagement of formalized palliative services offers distinct advantages in the management of prion disease. Palliative care teams incorporate expertise from a broad complement of professionals—including physicians, advanced practice providers, nurses, social workers, spiritual advisors, and a broad complement of practitioners—who work together to address the physical, psychological, social, spiritual, and cultural needs of the patient [16, 17]. Given these evident advantages, it is unclear why many patients did not receive these services. All but three patients in our cohort accepted palliative care services when referred, suggesting that under-utilization stemmed primarily from under-referral.
Patients with behavioral changes and constipation were more likely to access palliative care services. These symptoms/signs may have prompted patients and caregivers to seek medical management for symptom management, explaining the association. Patients who accessed palliative care services had shorter survival time (median symptomatic disease duration) compared to patients who did not; thus, speed of declines—a proxy for disease severity—may also have influenced referral behavior. Although other factors influencing referral patterns at our center were not explicitly measured, studies in patients with dementia or advanced cancer point to the link between underutilization of palliative resources and challenges with communication between health care teams [18, 19], lack of knowledge and education about palliative care practices and referral policies [18–23]; low confidence in the palliative team’s ability to manage patients’ symptoms [24], and rapid decline in patient’s cognition and mobility that interfered with attending outpatient visits [25–27]. Clinician perspectives may also influence referral patterns. The pervasive misconception that palliative care is equivalent to terminal care [23, 28–31] may lead physicians to (incorrectly) assume that referral to palliative care may alarm patients and caregivers [32] or amplify emotional challenges inherent in discussions surrounding death [20, 33–35]. Time constraints inherent in the care of patients with complex neurological disease, low availability of specialized palliative care providers [19, 22, 36, 37], and conditions of reimbursement [37–39] represent additional practical reasons why neurologists may neglect to advance goals of care discussions or advance care planning.
Our findings identify opportunities to improve the quality, scope, and timing of palliative services provided to patients with prion disease. Although most patients who received palliative care services were referred only to hospice, an early referral for a palliative care consultation offers distinct advantages. Early focus on palliative care goals in patients with neurodegenerative diseases may facilitate discussions concerning diagnoses, prognoses, and anticipatory guidance; enhance caregiver training; and improve mobilization of local sources of support [10]. Of note, waiting time for an outpatient palliative care consult was longer than other modes of palliative care, which may present an underrecognized barrier in timely access to palliative resources in outpatient settings. These results are similar to those reported in patients with Parkinson disease and other movement disorders, of whom > 80% had no contact with palliative care in the year prior to their death. When palliative care consultations were requested, they often occurred in the setting of an active hospitalization [40].
In settings where access to specialty palliative care is limited, palliative care services may need to be delivered by clinicians who do not specialize in palliative care. It is increasingly expected that neurologists (especially dementia specialists) will incorporate elements of palliative care in their practice, including supporting symptom management, and counselling concerning goals of care and advance care planning [41, 42]. In this regard, it is encouraging to note that neurologists were integrally involved in the delivery of palliative care in inpatient and outpatient settings in patients assessed across our health enterprise. The American Academy of Neurology highlights the necessity for formal palliative care training within neurology residency programs to ensure that neurologists are equipped with the necessary skills to manage these complex cases. Simulated patient practice, interactive online modules, and coaching are some, of many, methods to teach residents how to discuss goals of care, deliver bad news, lead family meetings, and address caregiver issues [43]. Enhancing palliative care training for neurologists is crucial to optimize treatment of patients with prion disease.
Appropriate disposition planning is a key component of care plans for families taking care of patients with dementia [44], and another priority area for improving care delivery. Among goals of care, only living environment was adequately addressed with patients with prion disease. This is not surprising, recognizing the need to integrate discussions concerning living environment in disposition planning for patients admitted to hospital, who constituted more than half of our cohort. A qualitative study investigating the experience of people with dementia and their carers when transitioning from the hospital to home showed that a chaotic or inadequately coordinated discharge process may contribute to distress, which may be exacerbated by delay in restarting community services after leaving the hospital [45]. By contrast, hospitalization and nutritional plans were discussed less frequently—especially when planning was directed by the primary medical team. This discrepancy may be driven by lack of knowledge of natural progression of complex diseases (e.g., under-appreciation of the risk for recurrent hospitalization or nutritional deficiencies). Other important elements of palliative care, although not measured here, include effective communication of prognosis, identifying spiritual and cultural needs, and screening for caregiver distress [6, 7].
Our findings should be interpreted in light of limitations. Data collection was constrained to information available via the electronic medical record. Thus, some data elements were likely over-represented (e.g., disposition) whereas others were under-represented (e.g., documentation of goals of care discussions, caregiver distress, sources of support, and detailed services provided via hospice care). Reliance on retrospective data also limited our ability to study the patient and provider perspectives that may have influenced access to palliative care resources. Additional prospective studies incorporating interviews with patients, caregivers, and health practitioners are needed to evaluate these issues in patients with prion disease [10, 25]. Our findings reflect experience within a multi-center healthcare system with expertise and interest in the diagnosis and management of complex neurological diseases. The challenges presented here may differ in centers with varied experience with the management of prion disease or access to specialty palliative care resources. Additionally, it is important to recognize that most patients with prion disease referred to our center were of a non-Hispanic White race and ethnicity. This racial-ethnic predilection is consistent with that reported in other studies of prion disease in the United States [2] [46], but may limit generalizability of study findings. Under-recognition and under-diagnosis of prion disease may be more common in racialized minorities [47–50] and would be expected to exacerbate disparities in care (including utilization of palliative care resources).
Conclusion:
A substantial proportion of patients with prion disease in our cohort did not access palliative care resources, despite the high prevalence of symptoms and signs likely to benefit from supportive care, and the invariably terminal nature of prion disease. When provided, palliative care services were most often delivered late in the course of the disease or at the end-of-life. Improving access to palliative care resources in patients with prion disease may support symptom management, enhance caregiver support, and reinforce patient autonomy by clarifying goals of care and advance care planning.
Supplementary Material
Acronyms:
- CJD
Creutzfeldt-Jakob disease
- STROBE
Strengthening the Reporting of Observational Studies in Epidemiology
- MRI
Magnetic Resonance Imaging
- CSF
Cerebrospinal Fluid
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This section collects any data citations, data availability statements, or supplementary materials included in this article.
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Data Availability Statement
Anonymized data that support the findings of this study will be made available upon request from a qualified investigator to the corresponding author.