Let them speak Towards a patient reported outcome measure set for (genetic) intellectual disabilities

Rare genetic disorders and/or intellectual disabilities (GID) affect about 1–3% of the population and are often associated with complex physical and neuropsychiatric problems. To better understand the impact of GID on daily life, patient reported outcomes (PROs) are important. PROs are health aspects directly reported by patients or proxies (i.e., caregivers), and are typically measured with questionnaires called patient reported outcome measures (PROMs).
Although PROMs are widely used in healthcare and research, their application for GID is challenging due to irrelevant, lengthy and complex questionnaires, and limited psychometric testing of PROMs in this population.
Therefore, this thesis aimed to develop a core PRO(M) set for children and adults with GID. First, it identified potentially relevant PROs through literature reviews and focus groups and interviews. These PROs were subsequently integrated and prioritized through a Delphi survey to develop the final core PRO set.
Finally, PROMs, mainly consisting of PROMIS instruments, were selected and evaluated in individuals with GID and their caregivers. PROMIS instruments proved more efficient and generally reliable compared to traditional questionnaires.
In conclusion, measuring patient perspectives in GID is essential but complex. The developed core PRO(M) set represents an important step toward including this patient perspective in care and research in a standardized way, but further psychometric evaluation and implementation are needed.