Abstract
BACKGROUND: To improve the quality of care and the impact of interventions for individuals with (genetic) intellectual disabilities ((G)ID), it is essential to identify and measure relevant patient reported outcomes (PROs), which represent patient perspective on their health and functioning. Currently, various, and potentially irrelevant PROs are being measured for individuals with (G)ID. The aim of this study is to identify relevant PROs from the perspective of different stakeholders, as one of the first steps towards development of a meaningful PRO set for children and adults with (G)ID. METHODS: A qualitative study was performed using focus groups and interviews with individuals with (G)ID, caregivers, healthcare professionals (HCPs) and European patient representatives. A focus group- and interview guide was developed including two themes: the impact of (G)ID on daily life and important topics to discuss with HCPs. Data collection took place until data sufficiency was reached. All sessions were recorded and transcribed verbatim. Transcripts were analysed by three researchers using a thematic analysis approach. PROs were classified and conceptualized (i.e., describing the content of each PRO in detail) within a conceptual framework. RESULTS: Ten focus groups and 13 interviews were conducted with a total of 51 participants. In total, seven adolescents and 10 adults with (G)ID, 12 caregivers, 13 multidisciplinary HCPs and nine European patient representatives participated. Data sufficiency was reached. PROs reported by participants were related to all health domains including physical, mental, and social functioning. Themes related to the negative impact of (G)ID were prioritized for discussion during consultations. CONCLUSIONS: This study sheds light on relevant PROs for individuals with (G)ID, marking one of the first steps in developing a meaningful PRO set for (G)ID. Once established, this set will inform care, research agendas, policymaking, and the development of a generic patient reported outcome measure (PROM) set for (G)ID, improving care quality and research impact for this complex and vulnerable population. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09647-z.