Page 19 - Let them speak Towards a patient reported outcome measure set for

General introduction
across GIDs. Emerging evidence also shows that there is often significant
overlap in PROs across conditions (49, 50). These factors support the
feasibility of developing a generic core PRO(M) set for the whole GID
population. Moreover, using this set for GID aligns with ongoing efforts in
the Netherlands to implement a standard set of generic PROs and PROMs
across patient groups and care settings (51). The Amsterdam UMC and
Emma’s Children’s Hospital are using these standard sets of PROMs in
many care teams as part of daily clinical care and are also implementing
them in other hospitals (52). The core PRO(M) set for GID will be part of
a future core outcome set (COS) and core outcome measurement set
(COMS), including all relevant outcomes (e.g., also performance outcomes)
and instruments (e.g., also performance outcome measures) for GID.
Outline of this thesis
This thesis consists of three parts. The first part describes the outcomes,
including PROs, used for GID, highlights the challenges and explores
solutions. The second part describes the development of the core PRO set
for GID. The third part focuses on establishing the core PROM set and the
psychometrics of this set for GID.
Part 1: A myriad of PROs
Chapter 2 offers an overview of outcomes and instruments used for
individuals with rare genetic neurodevelopmental disorders and ID in
clinical trials, exposing the challenges. In addition, we propose a strategy
to harmonize PROs for GID. Chapter 3 presents this strategy in a protocol
that outlines the steps for developing a core PRO set for the whole GID
population.
Part 2: Developing the core PRO set for GID
Identifying potentially relevant PROs
Developing a core PRO set first requires identifying potentially relevant
PROs. Chapter 4 offers a comprehensive overview of PROs used in clinical
trials and different COS for individuals with GID. Chapter 5 provides an
overview of relevant PROs for individuals with GID from the perspective of
affected individuals, caregivers, and clinical experts.
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