Addressing the Value of Multidisciplinary Clinical Care in Huntington’s Disease: A Snapshot of a New Huntington’s Disease Center

2019 ◽  
Vol 8 (4) ◽  
pp. 501-507
Author(s):  
Tanya M. Bardakjian ◽  
Jennifer Klapper ◽  
Adrianna Carey ◽  
Julia Wood ◽  
Meredith Pauly ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Care

scholarly journals Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington’s disease

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Antonio Schindler ◽  
Nicole Pizzorni ◽  
Jenny Sassone ◽  
Lorenzo Nanetti ◽  
Anna Castaldo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Neurodegenerative Disorder ◽  
Early Stage ◽  
Clinical Care ◽  
Self Report ◽  
Advanced Stage ◽  
Endoscopic Evaluation ◽  
Silent Aspiration ◽  
Scale Scores

Abstract Huntington's disease (HD) is a neurodegenerative disorder characterized by motor disturbances, cognitive decline, and behaviour changes. A well-recognized feature of advanced HD is dysphagia, which leads to malnutrition and aspiration pneumonia, the latter being the primary cause of death in HD. Previous studies have underscored the importance of dysphagia in HD patients with moderate-to-advanced stage disease, but it is unclear whether dysphagia affects patients already at an early stage of disease and whether genetic or clinical factors can predict its severity. We performed fiberoptic endoscopic evaluation of swallowing (FEES) in 61 patients with various stages of HD. Dysphagia was found in 35% of early-stage, 94% of moderate-stage, and 100% of advanced-stage HD. Silent aspiration was found in 7.7% of early-stage, 11.8% of moderate-stage, and 27.8% of advanced-stage HD. A strong correlation was observed between disease progression and dysphagia severity: worse dysphagia was associated with worsening of motor symptoms. Dysphagia severity as assessed by FEES correlated with Huntington’s Disease Dysphagia Scale scores (a self-report questionnaire specific for evaluating swallowing in HD). The present findings add to our understanding of dysphagia onset and progression in HD. A better understanding of dysphagia onset and progression in HD may inform guidelines for standard clinical care in dysphagia, its recognition, and management.

scholarly journals Myotonic Dystrophy and Huntington’s Disease Care: “We Like to Think We’re Making a Difference”

2016 ◽  
Vol 43 (5) ◽  
pp. 678-686 ◽  
Author(s):  
Kori A. LaDonna ◽  
Christopher J. Watling ◽  
Susan L. Ray ◽  
Christine Piechowicz ◽  
Shannon L. Venance
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Clinical Care ◽  
Patient Centered Care ◽  
Care Provision ◽  
Patient Centered ◽  
Making A Difference ◽  
Care Approach ◽  
Centered Care

AbstractBackground: Patient-centered care for individuals with myotonic dystrophy (DM1) and Huntington’s disease (HD)—chronic, progressive, and life-limiting neurological conditions—may be challenged by patients’ cognitive and behavioral impairments. However, no research has explored health care providers’ (HCPs’) perspectives about patient-centered care provision for these patients along their disease trajectory. Methods: Constructivist grounded theory informed the iterative data collection and analysis process. Eleven DM1 or HD HCPs participated in semistructured interviews, and three stages of coding were used to analyze their interview transcripts. Codes were collapsed into themes and categories.Results: Three categories including an evolving care approach, fluid roles, and making a difference were identified. Participants described that their clinical care approach evolved depending on the patient’s disease stage and caregivers’ degree of involvement. HCPs described that their main goal was to provide hope to patients and caregivers through medical management, crisis prevention, support, and advocacy. Despite the lack of curative treatments, HCPs perceived that patients benefited from ongoing clinical care provided by proactive clinicians. Conclusions: Providing care for individuals with DM1 and HD is a balancing act. HCPs must strike a balance between (1) the frustrations and rewards of patient-centered care provision, (2) addressing symptoms and preventing and managing crises while focusing on patients’ and caregivers’ quality of life concerns, and (3) advocating for patients while addressing caregivers’ needs. This raises important questions: Is patient-centered care possible for patients with cognitive decline? Does chronic neurological care need to evolve to better address patients’ and caregivers’ complex needs?

GEORGE ®: A Pilot Study of a Smartphone Application for Huntington’s Disease

2021 ◽  
pp. 1-10
Author(s):  
Emma M. Waddell ◽  
Karthik Dinesh ◽  
Kelsey L. Spear ◽  
Molly J. Elson ◽  
Ellen Wagner ◽  
...  
Keyword(s):  
Pilot Study ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Clinical Care ◽  
Smartphone Application ◽  
Sensor Data ◽  
Finger Tapping ◽  
Real World Data ◽  
Significant Difference ◽  
At Home

Background: Current Huntington’s disease (HD) measures are limited to subjective, episodic assessments conducted in clinic. Smartphones can enable the collection of objective, real-world data but their use has not been extensively evaluated in HD. Objective: Develop and evaluate a smartphone application to assess feasibility of use and key features of HD in clinic and at home. Methods: We developed GEORGE ®, an Android smartphone application for HD which assesses voice, chorea, balance, gait, and finger tapping speed. We then conducted an observational pilot study of individuals with manifest HD, prodromal HD, and without a movement disorder. In clinic, participants performed standard clinical assessments and a battery of active tasks in GEORGE. At home, participants were instructed to complete the activities thrice daily for one month. Sensor data were used to measure chorea, tap rate, and step count. Audio data was not analyzed. Results: Twenty-three participants (8 manifest HD, 5 prodromal HD, 10 controls) enrolled, and all but one completed the study. On average, participants used the application 2.1 times daily. We observed a significant difference in chorea score (HD: 19.5; prodromal HD: 4.5, p = 0.007; controls: 4.3, p = 0.001) and tap rate (HD: 2.5 taps/s; prodromal HD: 8.9 taps/s, p = 0.001; controls: 8.1 taps/s, p = 0.001) between individuals with and without manifest HD. Tap rate correlated strongly with the traditional UHDRS finger tapping score (left hand: r = –0.82, p = 0.022; right hand: r = –0.79, p = 0.03). Conclusion: GEORGE is an acceptable and effective tool to differentiate individuals with and without manifest HD and measure key disease features. Refinement of the application’s interface and activities will improve its usability and sensitivity and, ideally, make it useful for clinical care and research.

scholarly journals Incidence of completed suicide and suicide attempts in a global prospective study of Huntington's disease

BJPsych Open ◽  
2021 ◽  
Vol 7 (5) ◽  
Author(s):  
Erik van Duijn ◽  
A. Raquel Fernandes ◽  
Daisy Abreu ◽  
Jennifer J. Ware ◽  
Eileen Neacy ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Incidence Rate ◽  
Suicide Attempts ◽  
Clinical Care ◽  
Incidence Rates ◽  
Therapeutic Interventions ◽  
Risk Of Death ◽  
Completed Suicide ◽  
Post Marketing Surveillance

Background Risk of death from suicide in Huntington's disease is notably elevated relative to that in the general population, although the incidence within HD populations has not been precisely defined. Robust incidence estimates of suicidal behavior can serve as references for HD therapeutic research and post-marketing surveillance to help evaluate the suicidality risk of novel therapeutics. Aims To estimate the incidence rate of completed suicide and suicide attempt in the global, prospective HD cohort study Enroll-HD that records these events per protocol. Method A total of 20 912 participants were available for analysis (HD gene-expansion carriers (HDGECs) n = 15 924; non-HDGECs n = 4988) representing a collective observation period of 53 390 participant-years. Each observed event was subject to clinical review and evaluation. We generated incidence rates (events per 100 000 person-years) for suicides and suicide attempts using all available data, as well as by year of study and geographical region. Proportionate mortality statistics for suicide and respective 95% confidence intervals were also generated. Results The overall incidence rate of suicide in HDGECs was 72 per 100 000 person-years, and 8 per 100 000 person-years in non-HDGECs. Proportionate mortality attributable to suicide in HDGECs was 4.6%. For suicide attempts, the global overall incidence rate observed in HDGECs was 306–375 per 100 000 person-years, and 23–38 per 100 000 person-years in non-HDGECs. Conclusions The incidence estimates calculated here can be used as a reference to help evaluate drug safety and may also be useful in assessing progress in clinical care for HDGECs once therapeutic interventions become widely available.

Improving Patient Outreach by Defining Telehealth Suitability in a Tertiary Huntington’s Disease Clinic

2021 ◽  
pp. 1-6
Author(s):  
Sean J. Lee ◽  
Lisa M. Hale ◽  
Elizabeth Huitz ◽  
Daniel O. Claassen ◽  
Katherine E. McDonell
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Screening Tool ◽  
Selection Process ◽  
Clinical Care ◽  
Patient Specific ◽  
Patient Centeredness ◽  
Remote Healthcare ◽  
Specific Factors ◽  
Patient Outreach

Background: The COVID-19 pandemic has increased the need for remote healthcare options among patients with Huntington’s disease (HD). However, since not every HD patient is suitable for telehealth, it is important to differentiate who can be seen virtually from who should remain as in-person. Unfortunately, there are no clinical guidelines on how to evaluate HD patients for telehealth eligibility. Objective: To standardize the teleneurology selection process in HD by implementing a screening tool that accounts for patient-specific factors. Methods: We organized various indications and contraindications to teleneurology into a flowchart. If any indications or contraindications were met, patients were assigned to telehealth or maintained as in-person, respectively. If no indications or contraindications were met, patients were given the option of telehealth or in-person for their upcoming appointments. In two implementation cycles, we tested this screening tool among all HD patients scheduled for clinic visits, aided by chart review and phone interview. Results: In a cohort of 81 patients, telehealth acceptance among eligible patients increased from 45.0%to 83.3%. Frequency of telehealth visits increased from a pre-intervention baseline of 12.8%to 28.2%. Conclusion: Teleneurology utilization among HD patients more than doubled across our study. Our intervention promotes consistency and patient-centeredness in HD clinical care and streamlines the overall telehealth selection process. Future studies can seek to reduce telehealth no-shows and also evaluate the utility of the motor and psychiatric criteria included in our screening tool.

scholarly journals Healthcare Delivery and Huntington’s Disease During the Time of COVID-19

2021 ◽  
pp. 1-10
Author(s):  
Anna C. Pfalzer ◽  
Lisa M. Hale ◽  
Elizabeth Huitz ◽  
Danielle A. Buchanan ◽  
Brittany K. Brown ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Low Income ◽  
Clinical Care ◽  
Healthcare Delivery ◽  
Well Being ◽  
Stress Levels ◽  
Patient Stress ◽  
The Impact ◽  
At Home

Background: Safer-at-home orders during the COVID-19 pandemic altered the structure of clinical care for Huntington’s disease (HD) patients. This shift provided an opportunity to identify limitations in the current healthcare infrastructure and how these may impact the health and well-being of persons with HD. Objective: The study objectives were to assess the feasibility of remote healthcare delivery in HD patients, to identify socioeconomic factors which may explain differences in feasibility and to evaluate the impact of safer-at-home orders on HD patient stress levels. Methods: This observational study of a clinical HD population during the ‘safer-at-home’ orders asked patients or caregivers about their current access to healthcare resources and patient stress levels. A chart review allowed for an assessment of socioeconomic status and characterization of HD severity. Results: Two-hundred and twelve HD patients were contacted with 156 completing the survey. During safer-at-home orders, the majority of HD patients were able to obtain medications and see a physician; however, 25% of patients would not commit to regular telehealth visits, and less than 50% utilized an online healthcare platform. We found that 37% of participants were divorced/single, 39% had less than a high school diploma, and nearly 20% were uninsured or on low-income health insurance. Patient stress levels correlated with disease burden. Conclusion: A significant portion of HD participants were not willing to participate in telehealth services. Potential explanations for these limitations may include socioeconomic barriers and caregiving structure. These observations illustrate areas for clinical care improvement to address healthcare disparities in the HD community.

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