Background: In order to improve quality of care for individuals with rare genetic neurodevelopmental disorders (RGND), it is essential to measure patient reported outcomes (PROs). PROs represent the patient perspective on their health status and functioning. PROs can be measured with patient reported outcome measures (PROMs), which are standardized questionnaires completed by the patient. The aim of this study was to identify relevant PROs for individuals with RGND. This study serves as the initial phase towards the development of a PROM set for RGND.

Methods: A qualitative study was performed using in person or online focus groups and semi-structured interviews with adolescents and adults with RGND, caregivers, healthcare professionals, and patient representatives from the European reference network ITHACA. A focus group- and interview guide was developed including two themes: the impact of RGND on daily life and important PROs to discuss with the healthcare professional during the consultation. Data collection took place until data saturation was reached. All sessions were recorded and transcribed verbatim. Transcripts were analyzed by three researchers using a thematic analysis approach. PROs were clustered according to an integrated model for health outcomes, modified from Wilson and Cleary (1995) and the International Classification of Functioning (ICF).

Results: Ten focus groups (total n= 50 participants) and 13 interviews were conducted. Seven adolescents and 10 adults with RGND, 12 caregivers, 13 healthcare professionals, and eight European patient representatives participated. Data saturation was reached. Preliminary findings indicate that prominent themes reported by participants were related to sleep, anxiety, stress experiences, communication, behavior, and sensory integration problems.  

Conclusion: Awareness for relevant PROs for individuals with RGND is important. By incorporating PROs in healthcare for RGND, personalized care will be fostered. The identified PROs will be used for the development of a PROM set for RGND.

Keywords: Rare genetic neurodevelopmental disorders, patient reported outcomes (PROs), patient reported outcome measures (PROMs)