AIM: This 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. METHODS: A 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. RESULTS: The 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. INTERPRETATION: The 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.

Centre of Hereditary Ataxias Department of Pediatric Neurology 2nd Faculty of Medicine and Motol University Hospital 5 Uvalu 84 15006 Prague 5 Czech Republic

Clinical Pediatrics Department of Molecular Medicine and Development University of Siena Siena Italy

Department of Child Adolescent and Developmental Neurology University Children's Hospital Ljubljana Slovenia

Department of Child Neurology Amsterdam Leukodystrophy Center Amsterdam UMC Location Vrije Universiteit Amsterdam Emma's Children's Hospital Boelelaan 1117 Amsterdam the Netherlands; Amsterdam Neuroscience Cellular and Molecular Mechanisms Amsterdam the Netherlands

Department of Child Neurology Amsterdam UMC Vrije Universiteit De Boelelaan 1117 Amsterdam the Netherlands; Emma Children's Hospital Amsterdam UMC Meibergdreef 9 Amsterdam the Netherlands

Department of Medical Genetics Medical School University of Pécs Pécs Hungary

Department of Neurology Sorbonne University Paris Brain Institute ICM Inserm CNRS Assistance Publique Hôpitaux de Paris Pitié Salpêtrière Hospital Paris France

Department of Neurology University of Groningen University Medical Center Groningen Hanzeplein 1 9700 RB Groningen the Netherlands

Department of Paediatric Neurology Hospital Sant Joan de Déu Barcelona Spain

Department of Paediatric Neurology Hospital Sant Joan de Déu Barcelona Spain; U 703 Centre for Biomedical Research on Rare Diseases Instituto de Salud Carlos 3 Barcelona Spain

Department of Pediatric Neurology Donders Centre for Neuroscience Amalia Children's Hospital Radboud University Medical Center Nijmegen the Netherlands

Department of Pediatric Neurology Emma Children's Hospital Academic Medical Center University of Amsterdam Amsterdam 1100 DD the Netherlands

Department of Pediatric Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria

Expertise Center Movement Disorders Groningen University Medical Center Groningen Groningen the Netherlands; Department of Pediatric Neurology University of Groningen University Medical Center Groningen Beatrix Children's Hospital Groningen the Netherlands

Institute for Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany; Centre for Rare Diseases University Hospital Tübingen Tübingen Germany

National Centre for Epidemiology and CIBERNED Carlos 3 Institute of Health Madrid Spain

Pediatric Neurology Department Hôpital Bicêtre Le Kremlin Bicêtre France

Pediatric Neurology Department Mater Dei Hospital Malta

Unit of Neuromuscular and Neurodegenerative Disorders IRCCS Bambino Gesù Children's Hospital Rome Italy

Unit of Neurorehabilitation Department of Neuroscience and Neurorehabilitation IRCCS Bambino Gesù Children's Hospital Rome Italy

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