The Unified Huntington's Disease Rating Scale (UHDRS) was developed as a clinical rating scale to assess four domains of clinical performance and capacity in HD: motor function, cognitive function, behavioral abnormalities, and functional capacity. We assessed the internal consistency and the intercorrelations for the four domains and examined changes in ratings over time. We also performed an interrater reliability study of the motor assessment. We found there was a high degree of internal consistency within each of the domains of the UHDRS and that there were significant intercorrelations between the domains of the UHDRS, with the exception of the total behavioral score. There was an excellent degree of interrater reliability for the motor scores. Our limited longitudinal database indicates that the UHDRS may be useful for tracking changes in the clinical features of HD over time. The UHDRS assesses relevant clinical features of HD and appears to be appropriate for repeated administration during clinical studies.

Altered motor or mental skills in Parkinson's disease (PD) could adversely affect driving ability. We interviewed 150 patients regarding their driving habits and compared them with 100 controls. Thirty patients had stopped driving because of PD. PD patients had no more lifetime accidents than controls. With increased disability, however, there was a smaller percentage of patients still driving with fewer miles traveled and with proportionately more accidents occurring. Though disability scores did not correlate well with driving ability, there were significantly more accidents in subjects with more severe PD. The presence of cognitive impairment was associated with an increased accident rate. We conclude that driving in PD may be a public health problem and that some PD patients should not drive.

To investigate possible risk factors for Parkinson's disease (PD) we conducted a case-control study of 150 PD patients and 150 age- and sex-matched controls. We interviewed and examined all 300 subjects. We collected demographic data including lifetime histories of places of residence, source of drinking water, and occupations such as farming. Subjects completed a detailed questionnaire regarding herbicide/pesticide exposure. Rural living and drinking well water were significantly increased in the PD patients. This was observed regardless of age at disease onset. Drinking well water was dependent on rural living. There were no significant differences between cases and controls for farming or any measure of exposure to herbicides or pesticides. These data provide further evidence that an environmental toxin could be involved in the etiology of PD.

IMPORTANCE Deutetrabenazine is a novel molecule containing deuterium, which attenuates CYP2D6 metabolism and increases active metabolite half-lives and may therefore lead to stable systemic exposure while preserving key pharmacological activity. OBJECTIVE To evaluate efficacy and safety of deutetrabenazine treatment to control chorea associated with Huntington disease. DESIGN, SETTING, AND PARTICIPANTS Ninety ambulatory adults diagnosed with manifest Huntington disease and a baseline total maximal chorea score of 8 or higher (range, 0-28; lower score indicates less chorea) were enrolled from August 2013 to August 2014 and randomized to receive deutetrabenazine (n = 45) or placebo (n = 45) in a double-blind fashion at 34 Huntington Study Group sites. INTERVENTIONS Deutetrabenazine or placebo was titrated to optimal dose level over 8 weeks and maintained for 4 weeks, followed by a 1-week washout. MAIN OUTCOMES AND MEASURES Primary end point was the total maximal chorea score change from baseline (the average of values from the screening and day-0 visits) to maintenance therapy (the average of values from the week 9 and 12 visits) obtained by in-person visits. This study was designed to detect a 2.7-unit treatment difference in scores. The secondary end points, assessed hierarchically, were the proportion of patients who achieved treatment success on the Patient Global Impression of Change (PGIC) and on the Clinical Global Impression of Change (CGIC), the change in 36-Item Short Form-physical functioning subscale score (SF-36), and the change in the Berg Balance Test. RESULTS Ninety patients with Huntington disease (mean age, 53.7 years; 40 women [44.4%]) were enrolled. In the deutetrabenazine group, the mean total maximal chorea scores improved from 12.1 (95% CI, 11.2-12.9) to 7.7 (95% CI, 6.5-8.9), whereas in the placebo group, scores improvedfrom13.2(95%CI,12.2-14.3)to11.3(95%CI,10.0-12.5);themeanbetween-groupdifference was-2.5 units (95% CI,-3.7 to-1.3) (P < .001). Treatment success, as measured by the PGIC, occurred in 23 patients (51%) in the deutetrabenazine group vs 9 (20%) in the placebo group (P = .002). As measured by the CGIC, treatment success occurred in 19 patients (42%) in the deutetrabenazine group vs 6 (13%) in the placebo group (P = .002). In the deutetrabenazine group, the mean SF-36 physical functioning subscale scores decreased from 47.5 (95% CI, 44.3-50.8) to 47.4 (44.3-50.5), whereas in the placebo group, scores decreased from 43.2 (95% CI, 40.2-46.3) to 39.9 (95% CI, 36.2-43.6), for a treatment benefit of 4.3 (95% CI, 0.4 to 8.3) (P = .03). There was no difference between groups (mean difference of 1.0 unit; 95% CI,-0.3 to 2.3; P = .14), for improvement in the Berg Balance Test, which improved by 2.2 units (95% CI, 1.3-3.1) in the deutetrabenazine group and by 1.3 units (95% CI, 0.4-2.2) in the placebo group. Adverse event rates were similar for deutetrabenazine and placebo, including depression, anxiety, and akathisia. CONCLUSIONS AND RELEVANCE Among patients with chorea associated with Hun...

BackgroundHealth policy makers have recently shifted attention towards examining high users of health care, in particular patients with complex chronic disease and disability (CCDD) characterized as having multimorbidities and care needs that require ongoing use of services. The adoption of eHealth technologies may be a key strategy in supporting and providing care for these patients; however, these technologies need to address the specific needs of patients with CCDD. This paper describes the first phase of a multiphased patient-centered research project aimed at developing eHealth technology for patients with CCDD.ObjectiveAs part of the development of new eHealth technologies to support patients with CCDD in primary care settings, we sought to determine the perceived needs of these patients with respect to (1) the kinds of health and health service issues that are important to them, (2) the information that should be collected and how it could be collected in order to help meet their needs, and (3) their views on the challenges/barriers to using eHealth mobile apps to collect the information.MethodsFocus groups were conducted with community-dwelling patients with CCDD and caregivers. An interpretive description research design was used to identify the perceived needs of participants and the information sharing and eHealth technologies that could support those needs. Analysis was conducted concurrently with data collection. Coding of transcripts from four focus groups was conducted by 3 authors. QSR NVivo 10 software was used to manage coding.ResultsThere were 14 total participants in the focus groups. The average age of participants was 64.4 years; 9 participants were female, and 11 were born in Canada. Participants identified a need for open two-way communication and dialogue between themselves and their providers, and better information sharing between providers in order to support continuity and coordination of care. Access issues were mainly around wait times for appointments, challenges with transportation, and costs. A visual depiction of these perceived needs and their relation to each other is included as part of the discussion, which will be used to guide development of our eHealth technologies. Participants recognized the potential for eHealth technologies to support and improve their care but also expressed common concerns regarding their adoption. Specifically, they mentioned privacy and data security, accessibility, the loss of necessary visits, increased social isolation, provider burden, downloading responsibility onto patients for care management, entry errors, training requirements, and potentially confusing interfaces.ConclusionsFrom the perspective of our participants, there is a significant potential for eHealth tools to support patients with CCDD in community and primary care settings, but we need to be wary of the potential downfalls of adopting eHealth technologies and pay special attention to patient-identified needs and concerns. eHealth tools that support ongoing patient-provider inte...