Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD.
This article describes the challenges of end-of-life care encountered in a specialized long-term care program for people with Huntington's disease (HD). The Promoting Excellence in End-of-Life Care Huntington's Disease Workgroup defines the initiation of palliative care as the point at which independent living is no longer possible. Mobility and lifestyle accommodations for people in the nursing home setting with an early-onset disease are a major feature of this program. The primary end-of-life considerations are advance directives decision-making and anticipating end-stage care needs. Disease progression, denial, family conflict, and clinician blind-spots may impede the development of timely advance directives. The unpredictable and idiosyncratic nature of disease progression impacts decision making for end-of-life care settings and approaches: hospitalization, nursing home stay, and in-house hospice care are the available options. The Workgroup has delineated several priority areas for patient care in HD: autonomy; dignity; meaningful social interaction; communication; comfort; safety and order; spirituality; enjoyment, entertainment and well-being; nutrition; and functional competence. This review also includes a description of the program features in each of these areas.
This article describes the contours of the residential care placement experience for social service staff health care providers, and their client families of patients with Huntington's disease. The purpose of this study was to determine the factors, conditions, and barriers encountered by outpatient clinical staff and families in the transition to skilled nursing care. A Long-Term Care Contact Survey was developed to (a) gather information about long-term care referral sites; (b) determine the factors considered in choosing a facility; (c) describe the factors that hindered the transition to long-term care; (d) describe conditions prior to institutionalization; and (e) determine research interest. The study found that large cohorts of patients with Huntington's disease in residential care are scarce. A lack of confidence in the available options suggests the need for increased support for educational and social services to facility staff Speech/swallowing therapy and physical therapy as placement facilitators reflect salient issues of latter stages of the disease, implicating funding support needs. Families facing this transition require long-term guidance for financiail, caregiving, and psychosocial issues.
This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. The University of Rochester School of Medicine and Dentistry designates this educational activity for a maximum of 4.75 credits in the AMA PRA Category 1 Credit™ system. Physicians should claim credit only commensurate with the extent of their participation in the activity. The Symposium consists of three keynote addresses and four platform presentations by the following individuals, with allotted time for questions and answers after each presentation.
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