Page 126 - Let them speak Towards a patient reported outcome measure set for

Chapter 5
An important, but inherent, limitation of this study is the bias in age and level
of intellectual functioning of participants. Only adolescents and adults with
borderline to moderate ID were included in the focus groups and interviews.
The perspective of children up to 12 years and affected individuals with
severe or profound ID had to be represented by their caregivers, HCPs, and
European patient representatives. Moreover, the affected individuals and
caregivers who participated may have been more assertive and proactive
(and, in the case of caregivers, more highly educated), which potentially
leads to a bias, as they not fully represent the broader (G)ID population.
Furthermore, although the study sample includes different perspectives,
it represents only a small subset of the more than 1500 genetic IDs, and
comprises only a small group of Dutch-speaking individuals with (G)ID.
Therefore, the generalizability of the study to the whole (G)ID population
should be carefully considered. A key next step will be to validate the
identified PROs in a larger, more diverse international cohort. This study is
also limited by the lack of information on age- or condition-specific PROs.
Although this study primarily aimed to identify generic PROs relevant to the
whole (G)ID population, future studies should focus on age- or condition-
specific PROs to provide additional insights. For instance, loss of hand
function is common in Rett syndrome (63), making the PRO ‘upper extremity
functioning’ potentially relevant for this specific condition. In addition,
certain PROs may be more relevant at specific life stages. For instance,
sexual functioning may be of greater significance during adolescence and
adulthood than in childhood (23).
Conclusions
This study offers important insights into relevant PROs for individuals
with (G)ID and represents one of the first steps towards developing
a meaningful PRO set for this population. The results highlight the
importance of addressing PROs concerning mental, physical, and social
functioning, with a particular emphasis on mental health problems. The
next step involves integrating these PROs with those found in the literature,
prioritizing them, and establishing a meaningful PRO set (37). This set will
guide care, research, policymaking, and the development of a PROM set for
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