RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

No abstract available

Economic Burden And Health-Related Quality Of Life Of Patients With Cystic Fibrosis In Bulgaria

Objective: The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with cystic fibrosis (CF) in Bulgaria

ЭКОНОМИЧЕСКАЯ НАГРУЗКА И КАЧЕСТВО ЖИЗНИ, СВЯЗАННОЕ СО ЗДОРО-ВЬЕМ У ПАЦИЕНТОВ С ЗАБОЛЕВАНИЕМ МУКОВИСЦИДОЗА В БОЛГАРИИ

Objective: The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with cystic fibrosis (CF) in Bulgaria. Materials and methods: We conducted a cross-sectional study of 33 patients with CF and 17 caregivers from Bulgaria. Data on socio-demographic characteristics, health resource utilisation, informal care, labor productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was evaluated with the EuroQol 5-domain (EQ-5D-3L) questionnaire. Results: Median annual costs of CF in Bulgaria were € 24 152 per patient in 2012 as a reference year. Median annual costs for children were found to be significantly higher than those for adults - € 31 945 vs. € 15 714 (p = 0.012). This outcome came from statistically significant differences in costs for main informal carer (p < 0.001) and costs for other informal carers (p = 0.022). As a single cost item, drugs had the biggest monetary impact. Median annual drug costs were € 13 059. Bulgarian CF patients showed low HRQOL results - 50 median VAS score and 0.592 median health utilities. A quarter of patients even rated their health state as worse than death. Conclusion: CF patients from Eastern Europe remain a vulnerable population with risk factors for worse health outcomes. Our study provided a state-of-the art analysis that facilitates the elaboration, adoption and application of targeted public health policies to tackle CF-related problems at national and European level.This study was supported by the Social Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe Project (BURQOLRD), which received funding from the European Union within the framework of the 2nd Programme of Community Action in the Field of Public Health (Grant A101205). The European Union institutions and bodies are not responsible for any use that may be made of the information contained herein.S

Real-world experiences in autistic adult diagnostic services and post-diagnostic support and alignment with services guidelines:results from the ASDEU study

Abstract Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, &lt; 2% of adults or carers, and &lt; 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals

Autistic adult health and professional perceptions of it:evidence from the ASDEU project

Abstract The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults—especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, &lt;20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services

Intervention services for autistic adults:an ASDEU study of autistic adults, carers, and professionals’ experiences

Abstract The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services’ use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults