Abstract Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9) and Germany (n=10) to assess the impact of caring for children with CLN2 disease, using national wellbeing and quality of life (QoL) measures. Primary (n=19) and secondary (n=10) caregivers, adult siblings (n=2), and child siblings (n=2) were included. Caregivers reported reduced health-related QoL compared with age and gender-matched controls (mean utility scores 0.08 and 0.11 lower in Germany and the UK, respectively). Hours of caregiving were significantly higher relative to that provided to a child of normal health, with stress, back pain, and reductions in sleep being recorded. Lower life satisfaction and happiness with partners were also reported, along with significant financial burden. Those caring for children in the late stage of disease were more greatly impacted than those with children in the rapidly progressive stage, or who were bereaved. The results of this study make clear the importance of emotional and practical support for caregivers and siblings coping with CLN2 disease.
Abstract Neuronal ceroid lipofuscinosis type-2 (CLN2) disease is a rare, autosomalrecessive,pediatric-onset,neurodegenerative lysosomal storage disease caused by mutations in the TPP1 gene. Cerliponase alfa (Brineura®), a recombinant form of human tripeptidyl peptidase-1, was recently developed as a treatment for CLN2 disease. In clinical trials, the primary end point to evaluate treatment effect was the aggregate score for the motor and language (ML) domains of the CLN2 Clinical Rating Scale, an adaptation of the Hamburg scale’s component items that include anchor point definitions to allow consistent ratings in multinational, multisite, clinical efficacy studies. Psychometric analyses demonstrated that the ML score of the CLN2 Clinical Rating Scale and individual item scores are well defined and possess adequate measurement properties (reliability, validity, and responsiveness) to demonstrate a clinical benefit over time. Additionally, analyses comparing the CLN2 Clinical Rating Scale ML ratings to the Hamburg scale’s ML ratings demonstrated adequate similarity.
the roles of Human Resources (HR) are being questioned academically, as well as within organizations. Defining roles that are suitable to this area, given the changes occurring in the global work environment, reveals the problem of positioning HR as a strategic partner in organizations (ULRICH, 1998). Traditionally defined as a task executor, HR has difficulties performing according to the strategic discourse being presented nowadays. This article shows the results of a survey carried out with 264 management students at the Federal University of Rio Grande do Sul (UFRGS), Brazil. Its objective is to identify and discuss the Social Representations (GUARESCHI, 2007) of these students as regards the area of HR. Using cluster analysis, clusters of students with different concepts of HR were identified, and it was also shown that most of the students lacked clarity about HR roles and the implications of HR aligned with business strategies.
As atribuições da área de Recursos Humanos (RH) vêm sendo questionadas, tanto no meio acadêmico quanto no empresarial. A definição de papéis propícios a esta categoria, diante das mudanças ocorridas no mundo globalizado, é constantemente requerida, enunciando a problemática de posicionamento do RH como parceiro estratégico (ULRICH, 1998) nas organizações. Tradicionalmente definido como um executor de tarefas operacionais, este papel se contrapõe, na prática, ao discurso estratégico apregoado na teoria. O presente artigo expõe os resultados obtidos em uma pesquisa realizada com 264 alunos da graduação do curso de Administração da Universidade Federal do Rio Grande do Sul (UFRGS), objetivando a identificação e discussão das Representações Sociais, a partir do conceito de Guareschi (2007), destes alunos em relação ao RH. A obtenção dos resultados se deu pela análise de conglomerados, e foram identificados grupos com percepções distintas sobre o papel do RH, em que a maioria dos alunos não demonstra clareza sobre as atribuições e implicações de um RH alinhado com as estratégias do negócio.