Perceptions of palliative care in Huntington's disease: A qualitative study.

INTRODUCTION: Palliative care focuses on improving patient and family quality of life by managing symptoms, psychosocial issues and spiritual concerns. Huntington's disease is a progressive neurodegenerative disorder with no current disease modifying therapy. Although the palliative care model has been postulated to be an integral part of HD care, there are gaps in knowledge about how this care should be implemented. This study aims to identify perceptions of palliative care in Huntington's Disease (HD), palliative care needs of people living with HD, and at what point they feel they would benefit from these resources. METHODS: Participants volunteered from a large academic institution patient base to be involved in semi structured interviews that explored patient and caregiver experience surrounding their diagnosis, disease management, quality of life, and areas for improvement. Inclusion criteria for participants was a diagnosis of Huntington's disease and/or a self-identified caregiver of a person living with the disease. RESULTS: A total of 12 independent patients, three independent caregivers, and five dyads completed the interviews. Themes identified included needs that would provide patient and caregiver centered treatment, current gaps in care, an openness and desire for palliative care, and knowledge about the desired timing of palliative care in treatment plans. CONCLUSION: People living with HD and caregivers of people with HD most desire access to treatment that would focus on symptom management, availability of social resources, advanced care planning and spiritual wellbeing. The preferred timing of this intervention for most individuals would be at the onset of symptoms.

High rates of fatigue and sleep disturbances in dystonia.

BACKGROUND: Nonmotor symptoms in dystonia are increasingly recognized to impair the quality of life. The primary objective of this study was to determine the prevalence of fatigue and sleep disturbances in dystonia and to ascertain their impact on quality of life using standardized questionnaires. METHODS: Dystonia patients presenting to a Botulinum toxin clinic were prospectively administered Fatigue Severity Scale (FSS), Multidimensional Fatigue Inventory (MFI), Epworth Sleepiness Scale (ESS) and Parkinson's Disease Sleep Scale (PDSS) for assessment of fatigue and sleep disturbances. Health-related Quality of life (HRQOL) was determined using MOS SF-36 scale and depressive symptoms were assessed using the Beck Depression Inventory II. RESULTS: Ninety-one patients with dystonia participated (66 women, 25 men, mean age 60 ± 17 years). Nine subjects had generalized dystonia, 18 segmental dystonia and 64 had focal dystonia. Moderate to severe fatigue was present in 43% of the cohort (FSS), excessive daytime somnolence in 27% (ESS) and other sleep disturbances in 26% (PDSS). FSS and MFI scores correlated significantly with HRQOL even when controlled for depression and sleep disturbances. Excessive daytime somnolence and nocturnal sleep disturbances correlated significantly with the HRQOL; however, these effects were not seen for daytime somnolence when controlled for depression. Psychometric testing found adequate reliabilities and convergent validities for both fatigue and sleep scales. CONCLUSION: Fatigue and sleep disturbances revealed high prevalence rates in this large, first of its dystonia study. They negatively impacted the quality of life even when controlled for comorbid depression.

What's inside the art? The influence of frontotemporal dementia in art production.

We evaluated the productions of an artist with frontotemporal lobar degeneration from before dementia onset until she was fully symptomatic. We noted an improvement of technique that might be related to sparing and disinhibition of the right posterior neocortex. There was a reduction of closure (completeness of the painting), possibly induced by impersistence and a decrease in evocative impact that might be explained by frontal and anterotemporal-limbic dysfunction.

Abnormalities in zinc homeostasis in young infants with cystic fibrosis.

Low plasma zinc concentrations have been reported in approximately 30% of young infants with cystic fibrosis identified by newborn screening. The objective of this study was to examine zinc homeostasis in this population by application of stable isotope methodology. Fifteen infants with cystic fibrosis (9 male, 6 female; 7 breast-fed, 8 formula-fed) were studied at a mean (+/-SD) age of 1.8 +/- 0.7 mo. On d 1, 70Zn was administered intravenously, and 67Zn was quantitatively administered with all human milk/formula feeds during the day. Three days later, a 3-d metabolic period was initiated, during which time intake was measured and complete urine and fecal collections were obtained. Fractional zinc absorption, total absorbed zinc, endogenous fecal zinc, and net absorbed zinc were measured; fecal fat excretion was also determined. Fractional absorption was significantly higher for the breast-fed infants (0.40 +/- 0.21) compared with the formula-fed group (0.13 +/- 0.06) (p = 0.01), but with the significantly higher dietary zinc intake of the formula-fed group, total absorbed zinc was higher for those receiving formula (p = 0.01). In 1 infants with complete zinc metabolic data, excretion of endogenous zinc was twofold greater for the formula-fed infants (p < 0.05); net absorption (mg zinc/d) was negative for both feeding groups: -0.04 +/- 0.52 for breast-fed; -0.28 +/- 0.57 for formula-fed. Endogenous fecal zinc losses correlated with fecal fat excretion (r = 0.89, n = 9, p = 0.001), suggesting interference with normal conservation of endogenously secreted zinc. These findings indicate impaired zinc homeostasis in this population and suggest an explanation for the observations of suboptimal zinc status in many young infants with cystic fibrosis prior to diagnosis and treatment.