Page 18 - Let them speak Towards a patient reported outcome measure set for

Chapter 1
research showed that caregivers of individuals with fragile X syndrome
often experience frustration with lengthy questionnaires, which can result
in incomplete or inaccurate responses, or delays in completion (42). For
individuals with significant cognitive impairments, most existing PROMs
are too complex, preventing them from expressing their own perspective
on their health and functioning (43). In such cases, caregivers provide
information about the individual’s health through proxy-reports or observer
reported outcome measures. Third, PROMs, particular self-reports, are
often not sufficiently psychometrically tested in the GID population or are
only psychometrically tested within specific subgroups, limiting their utility
in both care and research (44, 45). Lastly, PROMs are still not routinely
implemented in daily clinical care for individuals with GID, largely due to the
challenges outlined above (43).
To address these challenges, this project, funded by the For Whis(h)dom
Foundation, started in June 2022 and served as the foundation for the
present thesis. The project was carried out by the research group ‘Rare
Genetic Neurodevelopmental Disorders’ and ‘Pediatric Psychology &
PROMs’ at the Emma Children’s Hospital, Amsterdam University Medical
Center (UMC).
Table 1. PRO and PROM challenges for GID.
PROs PROMs 1. Unclear which PROs are most relevant to individuals with GID
2. PROMs are lengthy and complex for GID
3. PROMs are often not psychometrically tested for GID
4. PROMs are not routinely implemented in care for GID
PROs, patient reported outcomes; PROMs, patient reported outcome measures.
Tackle the PRO(M) challenges
The aim of this thesis is to address these PRO(M) challenges by developing
and psychometrically testing a suitable generic core PRO(M) set for children
and adults with GID. The ultimate goal is to implement this PRO(M) set
in care and research for these individuals, starting at the Emma Children’s
Hospital and Amsterdam UMC. Individuals with GID frequently share
comorbidities such as epilepsy (46), sleep disorders (47), and autism (48).
These comorbidities potentially lead to similar patient reported problems
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