Zurynski Yvonne, Gonzalez Aranzazu, Deverell Marie, Phu Amy, Leonard Helen, Christodoulou John, Elliott Elizabeth
Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, New South Wales, Australia.
Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
BMJ Paediatr Open. 2017 Oct 5;1(1):e000172. doi: 10.1136/bmjpo-2017-000172. eCollection 2017.
To describe the experiences of Australian paediatricians while caring for children with rare diseases, and their educational and resource needs.
A brief online survey was developed and deployed to a representative sample of 679 paediatricians from the Australian Paediatric Surveillance Unit database.
Of the 679 paediatricians, 242 (36%) completed the survey. The respondents were representative of all states and territories of Australia, urban and rural regions, and hospital and private practice. Almost all respondents (93%) had seen children with one or more of >350 different rare diseases during their career; 74% had seen a new patient with rare disease in the last 6 months. The most common problems encountered while caring for patients were: diagnostic delays (65%), lack of available treatments (40%), clinical guidelines (36%) and uncertainty where to refer for peer support (35%). Few paediatricians said that rare diseases were adequately covered during university (40%) or the Fellowship of the Royal Australasian College of Physicians (50%) training, and 28% felt unprepared to care for patients with rare diseases. Paediatricians wanted lists of specialist referral services (82%) and online educational modules about rare diseases (78%) that could be accessed via one online portal that consolidated multiple resources. Smartphone applications on rare diseases were favoured by paediatricians aged <50 years and by female paediatricians.
An online educational portal should be developed and maintained for accuracy and currency of information to support dissemination of rare disease guidelines, referral pathways and coordination services relevant to Australian paediatricians and other health professionals who care for children with rare diseases.
描述澳大利亚儿科医生在照料罕见病患儿过程中的经历，以及他们的教育和资源需求。
开展了一项简短的在线调查，并将其部署到从澳大利亚儿科监测单位数据库中选取的679名儿科医生的代表性样本中。
679名儿科医生中，242名（36%）完成了调查。受访者代表了澳大利亚所有州和领地、城市和农村地区以及医院和私人诊所。几乎所有受访者（93%）在其职业生涯中都曾诊治过患有350多种不同罕见病中一种或多种的患儿；74%在过去6个月里诊治过患有罕见病的新患者。在照料患者过程中遇到的最常见问题有：诊断延迟（65%）、缺乏可用治疗方法（40%）、临床指南（36%）以及不确定向何处寻求同行支持（35%）。很少有儿科医生表示在大学期间（40%）或皇家澳大利亚内科医师学会研究员培训期间（50%）对罕见病有足够的涵盖，28%觉得没有准备好照料患有罕见病的患者。儿科医生希望获得专科转诊服务清单（82%）以及可通过整合多种资源的一个在线门户访问的关于罕见病的在线教育模块（78%）。50岁以下的儿科医生和女儿科医生更青睐关于罕见病的智能手机应用程序。
应开发并维护一个在线教育门户，以确保信息的准确性和时效性，从而支持传播与澳大利亚儿科医生以及其他照料患有罕见病患儿的卫生专业人员相关的罕见病指南、转诊途径和协调服务。
