Patient pathways for rare diseases in Europe: ataxia as an example

Orphanet Journal of Rare Diseases

Research

Julie Vallortigara¹  Paola Giunti¹  Julie Greenfield²  Barry Hunt²  Carola Reinhard³  Holm Graessner³  Antonio Federico⁴  Vinciane Quoidbach⁵  Steve Morris⁶  Deborah Hoffman⁷ 

[1] Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square House, Queen Square, WC1N 3BG, London, UK;Ataxia UK, London, UK;Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany;Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Italy and European Academy of Neurology, Siena, Italy;European Brain Council, Brussels, Belgium;Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK;Takeda Pharmaceuticals, Cambridge, MA, USA;

关键词: Ataxia;    Specialist centre;    Care pathway;    Patient survey;    Rare diseases;   

DOI  :  10.1186/s13023-023-02907-y

 received in 2023-03-21, accepted in 2023-09-04,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundProgressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending specialist ataxia centres (SAC) compared with non–specialist settings. We investigated specifically how diagnosis was reached, the access to healthcare services, treatments, and care satisfaction. The focus of this study was on early intervention, coordination of treatment to understand the care provision in different countries.MethodsA patient survey was done in the UK, Germany and Italy to gather information about diagnosis and management of the ataxias in specialist (SAC) and non-specialist settings, utilisation of other primary and secondary health care services, and patients’ satisfaction of received treatment.ResultsPatients gave positive feedback about the role of SAC in understanding their condition, ways to manage their ataxia (p < 0.001; UK) and delivering care adapted to their needs (p < 0.001; UK), in coordinating referrals to other healthcare specialists, and in offering opportunities to take part in research studies. Similar barriers for patients were identified in accessing the SACs among the selected countries, UK, Germany, and Italy.ConclusionsThis study provides crucial information about the ataxia patients care pathways in three European countries. Overall, the results showed a trend in patients’ satisfaction being better in SAC compared to non-SAC. The outcomes can be used now for policy recommendations on how to improve treatment and care for people with these very rare and complex neurological diseases across Europe.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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