Rare disease: a national survey of paediatricians' experiences and needs.

摘要: Objective To describe the experiences of Australian paediatricians while caring for children with rare diseases, and their educational resource needs. Design A brief online survey was developed deployed to a representative sample 679 from Paediatric Surveillance Unit database. Results Of paediatricians, 242 (36%) completed survey. The respondents were all states territories Australia, urban rural regions, hospital private practice. Almost (93%) had seen one or more >350 different diseases during career; 74% new patient disease in last 6 months. most common problems encountered patients were: diagnostic delays (65%), lack available treatments (40%), clinical guidelines uncertainty where refer peer support (35%). Few said that adequately covered university (40%) Fellowship Royal Australasian College Physicians (50%) training, 28% felt unprepared care diseases. Paediatricians wanted lists specialist referral services (82%) modules about (78%) could be accessed via portal consolidated multiple resources. Smartphone applications on favoured by aged Conclusions An should maintained accuracy currency information dissemination guidelines, pathways coordination relevant other health professionals who