Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

OBJECTIVE: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs disease is rare, and clinical symptoms include seizures, progressive cognitive impairment, and myoclonus. Most cases of Kufs disease are autosomal recessive; however, there have been a few case reports of an autosomal dominant form linked to mutations within the DNAJC5 gene. METHODS: We describe a family with Kufs disease in which the proband and three of her four children presented with cognitive impairment, seizures, and myoclonus. RESULTS: Genetic testing of all four children was positive for a c.346_348delCTC(p.L116del) mutation in the DNAJC5 gene. The proband brain had an abundance of neuronal lipofuscin in the cerebral cortex, striatum, amygdala, hippocampus, substantia nigra, and cerebellum. There were no amyloid plaques or neurofibrillary tangles. Immunohistochemistry demonstrated that the cholinergic neurons and cholinergic projection fibers were spared, but there was a profound loss of choline acetyltransferase within the caudate, putamen, and basal forebrain. This suggests a loss of choline acetyltransferase as opposed to a loss of the neurons. CONCLUSIONS: This report describes the clinical history of autosomal dominant Kufs disease, the genetic mutation within the DNAJC5 gene, and the neuropathological findings demonstrating depletion of choline acetyltransferase in the brain.

Changes in nursing students' knowledge, attitudes and interest in caring for older adults: A longitudinal cohort study.

Nursing education programs have a responsibility to prepare future nurses to care for the growing number of older adults who will be accessing health care services. Preparation involves ensuring students have the knowledge, skills and desire to provide quality care to older adults. A longitudinal cohort study was conducted to collect data on students' knowledge of, attitudes towards, and interest in working with older adults during each year of an undergraduate nursing program. Data were collected using the Kogan Attitudes Towards Older People Scale, Palmore's Fact on Aging Quiz and a demographic instrument designed specifically for this study. Results showed slight improvements in students' overall attitudes towards older adults at the completion of their nursing degree. Increases in knowledge were seen in 12 of 24 areas measured. Gerontology as a preferred career choice was highest immediately following a clinical placement focusing on caring for older adults. Integrating gerontological clinical experiences into a beginning fundamental nursing course does not necessarily improve students' learning in the area of caring for older adults. Nursing programs have a responsibility to design, monitor and update curricula to ensure students are being adequately prepared to care for older adults.

An Analysis of Falls and Those who Fall in a Chronic Care Facility.

OBJECTIVES: Falls in hospitals lead to adverse patient outcomes and prevention of falls is of upmost importance. Little is known about fall and injury rates in chronic care facilities, which are similar to skilled nursing facilities in the United States. Current fall risk tools in this setting are not well studied. Enhancing the understanding of how patient characteristics relate to fall circumstances is also needed. DESIGN: Retrospective analysis of falls over 3 years on consecutive admissions and discharges. SETTING AND PARTICIPANTS: A 104-bed geriatric chronic care facility. MEASURES: Fall and injury data, descriptive data for patients measuring mobility, balance, cognition, function, and frailty in relation to risk of falls and fall circumstances were analyzed. RESULTS: There were 1141 falls, with an overall fall rate of 8.48 falls per 1000 occupied bed days. The overall injury rate was 37.2 injuries per 100 falls. Being male and frail, having a mobility aid, poor mobility, balance, or cognition were associated with falling. Patients with good balance but poor cognition was more likely to fall outside their room, while those with poor mobility/balance fell more often in their room. The Clinical Frailty Scale performed modestly well at predicting falls with an odds ratio of 2.5 (95% confidence interval 1.9-3.2). CONCLUSIONS AND IMPLICATIONS: Fall rates in chronic care facilities differ from what is reported in other settings. Patient characteristics such as male, use or misuse of a mobility aid, and poor cognition are more common in fallers. Fall circumstances differ in those with poor cognition compared with those with poor mobility and balance. More research focusing on frailty, cognition, and mobility/balance is needed to develop accurate tools that can predict those at a high risk of falls in these facilities.