Page 138 - Let them speak Towards a patient reported outcome measure set for

Chapter 6
Muilekom, van Karnebeek, Daams, et al. 2025). This reflects the challenge
of selecting and measuring the most relevant PROs for individuals with GID,
given their phenotypic variability, particularly in cognitive functioning, which
can range from profound ID to normal intellectual functioning. Consequently,
combining and comparing PRO data becomes difficult, and concerns
are raised about whether the most important PROs are being measured.
Therefore, there is a need to harmonize PROs for GID and develop a generic
core PRO set applicable to the entire GID population. This is particularly
important given the impossibility of developing a core PRO set for more
than 1500 GIDs (Maia et al. 2021). And although GID represent a complex
and heterogeneous population, they also share common comorbidities that
may lead to overlapping PROs. Moreover, increasing evidence suggests
that PROs, such as fatigue and depressive symptoms, often overlap across
conditions and age groups (Katon and Ciechanowski, 2002; Swain, 2000),
supporting the feasibility of developing a generic core PRO set for the entire
GID population.
This core PRO set should eventually be part of a future core outcome set
(COS). Such a COS would serve as an agreed, standardised set of outcomes
that should be measured and reported in all clinical trials involving
individuals with GID (Williamson et al. 2012). Beyond clinical trials, this COS
could also be useful in other types of research and in routine care, where
they help healthcare professionals monitor relevant outcomes consistently
and provide patients with information about their progress (Clarke, 2007).
The COS for GID will include not only PROs, but also other outcomes, such
as clinician reported outcomes and performance outcomes, and can be
adjusted for various conditions or comorbidities.
Previously, we conducted scoping reviews and a qualitative study to identify
potentially relevant PROs. Among the identified PROs were perceived
health, cognitive functioning, anxiety, and depressive symptoms (van
Silfhout, van Muilekom, van Karnebeek, Daams, et al. 2025; van Silfhout, van
Muilekom,van Karnebeek, Haverman, and van Eeghen 2025). This study
aims to identify the most relevant PROs from the perspectives of affected
individuals, caregivers, and experts, representing the final step towards
developing a generic core PRO set for children and adults with GID to be
used in care and research (van Silfhout et al. 2024).
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