Page 219 - Let them speak Towards a patient reported outcome measure set for

General discussion
individual’s health, and facilitating patient-centered and personalized care
for GID. The core PROM set should also be implemented in GID research
to improve understanding of disease progression and to assess treatment
effects. Use of PROMs in research, such as in medicines development as
encouraged by the European Medicines Agency (EMA) and the Food and
Drug Administration (FDA) (37, 38), enables affected individuals or their
caregivers to directly report perceived intervention effects and health
changes over time. The set might also be used in patient registries to
collect patient-centered data. Eventually, all these collected PRO data
can guide clinical care, guideline development, research priorities, policy,
drug approval, and reimbursement decisions (39). European rare disease
networks, such as the European Reference Network for Rare Malformation
Syndromes, Intellect and Other Neurodevelopmental Disorders (ERN-
ITHACA) or EURORDIS, could help with the distribution and adoption of the
core PROM set in other European countries.
Methodological considerations
Several limitations should be considered when interpreting the results of
this thesis.
Sample of individuals with GID and their caregivers
In nearly half of the chapters in this thesis, individuals with GID and their
caregivers participated in the studies. Although efforts were made to
include a broad range of participants, covering different GIDs and levels
of intellectual functioning, it is not feasible to fully represent such a
heterogeneous population. For individuals with severe to profound ID,
only caregivers were included, and only a limited number of GIDs were
represented. As a result, the core PRO(M) set may be more applicable to
individuals with relatively higher intellectual functioning (moderate ID to
normal intellectual functioning) and to the specific GIDs included in the
studies. This set should therefore be regarded as an initial core PRO(M)
set that may require adaptation for specific subgroups. For instance,
individuals with Rett syndrome and Prader-Willi syndrome frequently
experience respiratory problems, such as apneas or shallow breathing (40-
42). Supplementing the core PRO(M) set with PROMs targeting respiratory
symptoms may be necessary for these subgroups.
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