Article
作者: Soler, Doriette ; Willemsen, Michel Aap ; Darling, Alejandra ; Wolf, Nicole ; van de Pol, Laura A ; Amato, María Eugenia ; Moroni, Isabella ; Reinhard, Carola ; Grosso, Salvatore ; Attard, Stephen ; Ortigoza-Escobar, Juan Darío ; Hadzsiev, Kinga ; Nardocci, Nardo ; Vasco, Gessica ; Siegert, Sandy ; Stovickova, Lucie ; Sevin, Caroline ; Engelen, Marc ; Freilinger, Michael ; Sival, Deborah A ; Zumrova, Alena ; Zorzi, Giovanna ; Neubauer, David ; Vidailhet, Marie ; Pagliano, Emanuela ; Rodriguez-Blazquez, Carmen ; Zibordi, Federica ; Nicita, Francesco ; Eggink, Hendriekje
AIMThis exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application.METHODSA multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients.RESULTSThe study identifies various rating scales and establishes their usage frequencies for different MDs. Experts highlighted the need for standardized scales and proposed preliminary evaluation strategies based on clinical contexts. Challenges in applying scales to young, non-cooperative patients were acknowledged.INTERPRETATIONThe study recommends developing standardized rating scales for paediatric MDs to improve evaluations and data collection. It suggests potential scales for specific clinical scenarios to better evaluate disease progression. Comprehensive, patient-centred care remains crucial during the transition to adult care, despite the identified challenges. This exploratory approach aims to enhance patient outcomes and care.