Henry Paul Moore

Latino caregivers have poor mental health and access to caregiver support services. Here, we describe the protocol for a randomized controlled trial (RCT) to evaluate the effect of a text message intervention on depression and distress among informal Latino dementia caregivers. We will also assess mechanisms of action. We are enrolling 288 Latino dementia informal caregivers 18 or older into a parallel group RCT. Participants randomized to the intervention group receive a remote, asynchronous, bilingual, bi-directional, 6-month texting program focused on dementia education, skill-building and community resources. The control group enters a 7-month waitlist after which they are offered the same intervention as the intervention group. Randomization is stratified by each of the four recruitment sites at a 1:1 ratio. Outcomes (e.g., caregiver depressive symptomatology, distress) are measured via surveys at baseline, 3, 6 and 7 months. This RCT addresses two priority areas: eliminating dementia disparities and optimizing caregiver support. Findings have the potential to make clinical and policy-relevant contributions by providing appropriate caregiver support to Latinos in a highly scalable way. Protocol version/date: 1/14/2025.

Background The Huntington's Disease (HD) Everyday Functioning (Hi-DEF) is a novel patient-reported outcome (PRO) scale developed to assess the impact of cognitive impairment on daily functioning in early HD patients.Objective To examine the psychometric properties, including reliability and validity, of the Hi-DEF. Findings from psychometric analyses using classical test theory (CTT) approach are presented here.Methods A non-interventional validation study was conducted across nine HD Centers of Excellence across the US.Results Patients with HD (n = 151) were recruited: 59% were female, mean (SD) age was 47 (12) years, and mean (range) Total Functional Capacity (TFC) score was 11.4 (8-13). Excellent internal consistency reliability was observed for the Hi-DEF scale total score (Cronbach's alpha: 0.98) and across subscales (alpha range 0.87-0.96). Most targeting and scaling assumptions were met, although there were ceiling effects for three subscales. Construct validity was demonstrated by moderate to high Spearman's rank-order correlations with TFC scores (range r = -0.38 to -0.62) and known and validated measures such as the HD-PRO-TRIADTM (range r = 0.75-0.90), and ability to discriminate between levels of functional impairment (TFC 13, 12-11, and 10-8; p < 0.001). Correlations with Cambridge Neuropsychological Test Automated Battery (CANTAB) cognitive performance measures were low to moderate and ranged from 0.06 to 0.38.Conclusions The Hi-DEF is a reliable and valid PRO scale measuring the impact of cognitive impairment on daily functioning, assessing facets of cognitive functioning in context of activities of daily living impacted in early stages of HD.

We aied to examine the psychometric properties of several wellbeing scales among Latinos in the US, most of which have never been validated in a US-Latino population. We leveraged secondary baseline data from a one-arm mHealth trial on dementia caregiver support. We included 100 responses for caregiver-focused scales and 88 responses for care recipient-focused scales. Scales included the Neuropsychiatric Inventory Questionnaire Severity and Distress scales, Six-item Zarit Burden Inventory, Ten-item Center for Epidemiologic Studies Depression Scale, 15-item Geriatric Depression Scale, Quality of Life in Alzheimer's Disease, and Single-item Satisfaction With Life Scale. We calculated concurrent validity using Pearson and Spearman correlations and expected correlations amongst all variables in line with the Stress Process Framework. We calculated internal consistency reliability using Cronbach's alpha. All concurrent validity correlations followed the expected directionality, with 19/21 inter-scale correlations in the total sample reaching statistical significance (p < .05), and 17/21 reaching at least a low correlation (.3). Cronbach's alpha ranged from .832 to .879 in all scales in the total sample. The English and Spanish caregiver-administered scales tested in this manuscript have good psychometric properties among Latinos. These are now appropriately available for use among US Latinos in research and clinical contexts.

•Hispanic people with Parkinson’s disease may under-utilize advance care planning.•Non-Hispanic participants had higher completion rate for power of attorney.•Non-Hispanic participants had higher completion rate for advance directives.•Patients view advance care planning discussions with providers as important. Advance care planning (ACP) is a tool for optimizing end-of-life care and is an important aspect of healthcare for people with Parkinson’s disease (PD). However, there may be disparities in access to ACP based on race and/or ethnicity. We conducted a cross-sectional survey of people with PD and care partners from a diverse academic Movement Disorders clinic regarding familiarity with ACP and sociodemographic factors. We compared prior experiences with ACP, with a primary outcome examining prior completion of healthcare power of attorney (HPOA) and advance directives (AD) among Hispanics and non-Hispanics in the cohort. Univariate analysis was utilized to compare cohort demographics. A multinomial logistic regression was performed to control for possible confounders. 250 participants completed the survey, including 116 (46.4 %) who self-identified as Hispanic and 127 (50.8 %) non-Hispanic. Only 20 % of Hispanic participants had previously completed HPOA documentation versus 66.9 % non-Hispanics (p < 0.001). The rates of completion for AD were 6.1 % and 31.7 %, respectively (p < 0.001). Hispanic respondents were less likely to have heard about these documents and more likely to wait until later in the disease course to discuss ACP, despite a majority viewing these discussions as important. These trends remained when controlling for several demographic variables; however, age and preferred language of survey emerged as potential confounders for some answer choices. Hispanic people with PD may be less likely to utilize ACP than their non-Hispanic counterparts. Awareness of these resources or cultural factors may play a role and should be explored further in future studies.

Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease. PD GENEration is an ongoing multi-centre, observational study (NCT04057794, NCT04994015) offering genetic testing with results disclosure and genetic counselling to those in the US (including Puerto Rico), Canada and the Dominican Republic, through local clinical sites or remotely through self-enrolment. DNA samples are analysed by next-generation sequencing including deletion/duplication analysis (Fulgent Genetics) with targeted testing of seven major Parkinson's disease-related genes. Variants classified as pathogenic/likely pathogenic/risk variants are disclosed to all tested participants by either neurologists or genetic counsellors. Demographic and clinical features are collected at baseline visits. Between September 2019 and June 2023, the study enrolled 10 510 participants across >85 centres, with 8301 having received results. Participants were: 59% male; 86% White, 2% Asian, 4% Black/African American, 9% Hispanic/Latino; mean age 67.4 ± 10.8 years. Reportable genetic variants were observed in 13% of all participants, including 18% of participants with one or more 'high risk factors' for a genetic aetiology: early onset (<50 years), high-risk ancestry (Ashkenazi Jewish/Basque/North African Berber), an affected first-degree relative; and, importantly, in 9.1% of people with none of these risk factors. Reportable variants in GBA1 were identified in 7.7% of all participants; 2.4% in LRRK2; 2.1% in PRKN; 0.1% in SNCA; and 0.2% in PINK1, PARK7 or VPS35 combined. Variants in more than one of the seven genes were identified in 0.4% of participants. Approximately 13% of study participants had a reportable genetic variant, with a 9% yield in people with no high-risk factors. This supports the promotion of universal access to genetic testing for Parkinson's disease, as well as therapeutic trials for GBA1 and LRRK2-related Parkinson's disease.

In clinical practice, we have observed that patients with Parkinson disease (PD) often have blepharoclonus, but its prevalence is not well described in the literature. Understanding the relative frequencies of blepharoclonus in PD and atypical parkinsonian syndromes may shed light on the diagnostic utility of this clinical sign. We aimed to assess (1) the frequency of blepharoclonus in patients with PD in a single-center cohort; (2) the association of blepharoclonus with disease stage, tremor severity, and non-motor symptoms; and (3) the frequency of blepharoclonus in synucleinopathy vs non-synucleinopathy-associated parkinsonism. We prospectively enrolled 85 patients, 75 with PD and 10 with atypical parkinsonism. Blepharoclonus was considered present if eyelid fluttering was sustained for >5 seconds after gentle eye closure. For each patient, demographics were collected, and we completed selected questions from the MDS-UPDRS (Unified Parkinson's Disease Rating Scale) part 2, REM Sleep Behavior Disorder Questionnaire, and MDS-UPDRS part 3 tremor assessments and recorded the presence/absence of dyskinesia. 63 of 75 patients with PD (84%) had blepharoclonus. Among the 10 patients with atypical parkinsonism, 5 had synucleinopathy syndromes. Blepharoclonus was present in 3 of 5 patients with synucleinopathy and 0 of 5 patients with non-synucleinopathy-associated parkinsonian syndromes. Blepharoclonus is prevalent in our PD cohort, suggesting possible utility as a clinical marker for PD. The absence of blepharoclonus in a patient with parkinsonism may suggest a non-synucleinopathy (e.g., tauopathy). Analysis of a larger cohort of both PD and atypical parkinsonism would be needed to establish whether blepharoclonus distinguishes PD from atypical parkinsonism, or synucleinopathy from non-synucleinopathy.