Publications by authors named "Ray Dorsey"

Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.

Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.

Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.

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In a prospective, remote natural history study of 277 individuals with (60) and genetically at risk for (217) Parkinson's disease (PD), we examined interest in the return of individual research results (IRRs) and compared characteristics of those who opted for versus against the return of IRRs. Most ( = 180, 65%) requested sharing of IRRs with either a primary care provider, neurologist, or themselves. Among individuals without PD, those who requested sharing of IRRs with a clinician reported more motor symptoms than those who did not request any sharing (mean (SD) 2.

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Background And Objectives: To identify trends in educational debt for US medical school graduates entering neurology and compare debt to anticipated compensation.

Methods: Data of 148 accredited medical schools were obtained from the Association of American Medical Colleges Graduation and Matriculating Student Questionnaires to identify self-reported educational debt for graduates pursuing neurology training. Trends were assessed in a 2-year interval from 2010 to 2021.

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Prevalence estimates of Parkinson's disease (PD)-the fastest-growing neurodegenerative disease-are generally underestimated due to issues surrounding diagnostic accuracy, symptomatic undiagnosed cases, suboptimal prodromal monitoring, and limited screening access. Remotely monitored wearable devices and sensors provide precise, objective, and frequent measures of motor and non-motor symptoms. Here, we used consumer-grade wearable device and sensor data from the WATCH-PD study to develop a PD screening tool aimed at eliminating the gap between patient symptoms and diagnosis.

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Article Synopsis
  • Huntington's disease (HD) is caused by a CAG repeat expansion and is part of a group of disorders linked to unstable short tandem repeats, highlighting the complexity of genetic influences on the disease.
  • Research indicates that both overlapping and unique genetic modifiers affect clinical symptoms and somatic expansion in blood DNA, pointing to specific cell-type interactions in mismatch repair processes.
  • The study identifies a 5'-UTR variant that causes somatic expansion without altering clinical HD, and a specific sequence change that accelerates motor symptom onset without increasing expansion, emphasizing potential therapeutic targets for managing HD.
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Article Synopsis
  • - Huntington's disease (HD) impacts both upper and lower limb function, and this study used a wrist-worn sensor to monitor upper limb movements in daily activities among individuals with HD, prodromal HD (pHD), and healthy controls (CTR) over a week.
  • - Participants were highly compliant in wearing the sensor, and the study analyzed goal-directed movements (GDM) using deep learning, finding significant differences in GDM characteristics among the three groups, particularly noting that HD individuals performed fewer long-duration movements compared to CTR.
  • - The research successfully used statistical and machine learning models to distinguish between the groups and predict clinical scores, achieving a balanced accuracy of 67%, with certain movement metrics correlating strongly with clinical evaluations
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Digital measures may provide objective, sensitive, real-world measures of disease progression in Parkinson's disease (PD). However, multicenter longitudinal assessments of such measures are few. We recently demonstrated that baseline assessments of gait, tremor, finger tapping, and speech from a commercially available smartwatch, smartphone, and research-grade wearable sensors differed significantly between 82 individuals with early, untreated PD and 50 age-matched controls.

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The brain- and body-first models of Lewy body disorders predict that aggregated alpha-synuclein pathology usually begins in either the olfactory system or the enteric nervous system. In both scenarios the pathology seems to arise in structures that are closely connected to the outside world. Environmental toxicants, including certain pesticides, industrial chemicals, and air pollution are therefore plausible trigger mechanisms for Parkinson's disease and dementia with Lewy bodies.

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Long-term exposure to pesticides used in agriculture is increasingly being identified as a risk factor for developing Parkinson's disease. How chronic pesticide exposure might contribute to the growth of Parkinson's disease in the mainly agricultural communities of Sub-Saharan Africa has thus far received limited attention. There are specific concerns in this area of the world: aging of the population, in combination with chronic exposure to widely used pesticides, including those that have been restricted elsewhere in the world because of neurotoxicity and other health risks.

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Background: Digital health technologies show promise for improving the measurement of Parkinson's disease in clinical research and trials. However, it is not clear whether digital measures demonstrate enhanced sensitivity to disease progression compared to traditional measurement approaches.

Methods: To this end, we develop a wearable sensor-based digital algorithm for deriving features of upper and lower-body bradykinesia and evaluate the sensitivity of digital measures to 1-year longitudinal progression using data from the WATCH-PD study, a multicenter, observational digital assessment study in participants with early, untreated Parkinson's disease.

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Background: Given the growing evidence for an environmental contribution to the etiology of Parkinson's disease (PD), searching for local and regional differences in PD prevalence in multiple areas across the world may further clarify the role of environmental toxins.

Objective: To provide local and regional prevalence estimates of PD in Poland.

Methods: We analyzed the prevalence of PD and its trend over the last decade (2010 to 2019) based on data from the National Health Fund in Poland.

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Background: Environmental exposure to trichloroethylene (TCE), a carcinogenic dry-cleaning chemical, may be linked to Parkinson's disease (PD).

Objective: The objective of this study was to determine whether PD and cancer were elevated among attorneys who worked near a contaminated site.

Methods: We surveyed and evaluated attorneys with possible exposure and assessed a comparison group.

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Background: Speech changes are an early symptom of Huntington disease (HD) and may occur prior to other motor and cognitive symptoms. Assessment of HD commonly uses clinician-rated outcome measures, which can be limited by observer variability and episodic administration. Speech symptoms are well suited for evaluation by digital measures which can enable sensitive, frequent, passive, and remote administration.

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Parkinson's disease is the world's fastest growing brain disorder, and exposure to environmental toxicants is the principal reason. In this paper, we consider alternative, but unsatisfactory, explanations for its rise, including improved diagnostic skills, aging populations, and genetic causes. We then detail three environmental toxicants that are likely among the main causes of Parkinson's disease- certain pesticides, the solvent trichloroethylene, and air pollution.

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While speech biomarkers of disease have attracted increased interest in recent years, a challenge is that features derived from signal processing or machine learning approaches may lack clinical interpretability. As an example, Mel frequency cepstral coefficients (MFCCs) have been identified in several studies as a useful marker of disease, but are regarded as uninterpretable. Here we explore correlations between MFCC coefficients and more interpretable speech biomarkers.

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Time series data continuously collected by different sensors play an essential role in monitoring and predicting events in many real-world applications, and anomaly detection for time series has received increasing attention during the past decades. In this paper, we propose an anomaly detection method by densely contrasting the whole time series with its sub-sequences at different timestamps in a latent space. Our approach leverages the locality property of convolutional neural networks (CNN) and integrates position embedding to effectively capture local features for sub-sequences.

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Background: In Parkinson's disease (PD), gait and balance is impaired, relatively resistant to available treatment and associated with falls and disability. Predictive models of ambulatory progression could enhance understanding of gait/balance disturbances and aid in trial design.

Objectives: To predict trajectories of ambulatory abilities from baseline clinical data in early PD, relate trajectories to clinical milestones, compare biomarkers, and evaluate trajectories for enrichment of clinical trials.

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Background: Adoption of new digital measures for clinical trials and practice has been hindered by lack of actionable qualitative data demonstrating relevance of these metrics to people with Parkinson's disease.

Objective: This study evaluated of relevance of WATCH-PD digital measures to monitoring meaningful symptoms and impacts of early Parkinson's disease from the patient perspective.

Methods: Participants with early Parkinson's disease (N = 40) completed surveys and 1:1 online-interviews.

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Background: Patient perspectives on meaningful symptoms and impacts in early Parkinson's disease (PD) are lacking and are urgently needed to clarify priority areas for monitoring, management, and new therapies.

Objective: To examine experiences of people with early-stage PD, systematically describe meaningful symptoms and impacts, and determine which are most bothersome or important.

Methods: Forty adults with early PD who participated in a study evaluating smartwatch and smartphone digital measures (WATCH-PD study) completed online interviews with symptom mapping to hierarchically delineate symptoms and impacts of disease from "Most bothersome" to "Not present," and to identify which of these were viewed as most important and why.

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Digital health technologies can provide continuous monitoring and objective, real-world measures of Parkinson's disease (PD), but have primarily been evaluated in small, single-site studies. In this 12-month, multicenter observational study, we evaluated whether a smartwatch and smartphone application could measure features of early PD. 82 individuals with early, untreated PD and 50 age-matched controls wore research-grade sensors, a smartwatch, and a smartphone while performing standardized assessments in the clinic.

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The etiologies of Parkinson's disease (PD) remain unclear. Some, such as certain genetic mutations and head trauma, are widely known or easily identified. However, these causes or risk factors do not account for the majority of cases.

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