Abstract
BACKGROUND: For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) on Rare Congenital Malformations and Rare Intellectual Disability aims to develop a clinical practice guideline to improve this transition. The aim of this study was to identify which aspects of the transition to adult care matter most and to describe the current care gap as experienced by European caregivers to inform the guideline scope. METHODS: An international web-based survey was conducted by ERN-ITHACA in January-February 2023. Priorities for a good transition process and current care gaps in Europe were identified using the 'Mind the Gap' scale. The surveys were created in plain and easy-to-read language and available in nine European languages. RESULTS: One hundred fifty-seven caregivers from 15 European countries completed the survey, representing over 40 conditions, including the Phelan-McDermid, Rubinstein-Taybi, 22q11.2 deletion and Kleefstra syndromes. Care gaps were identified, particularly related to process issues such as the preparation for and adaptation to adult healthcare, supporting independence and planning for the future. Items considered essential for optimal healthcare were related to individualised approaches, information provision and coordination of care. DISCUSSION: Coordinated, specialised, individualised and multidisciplinary care is required to support youth with rare conditions and intellectual disability in the transitional age. Supporting young people's independence, orchestrating multidisciplinary care and ensuring effective communication are particularly challenging in the transition to adult healthcare for this population.