Page 212 - Let them speak Towards a patient reported outcome measure set for

Chapter 8
Reflections & implications
PRO and PROM challenges for GID – part of the solution
Before a core PRO(M) set for children and adults with GID could be
established, several key challenges had to be addressed (Table 1). First, the
most relevant PROs for GID were unknown. We addressed this by identifying
potentially relevant PROs through scoping reviews and a qualitative
study (6, 7). The scoping reviews identified a wide range of PROs used in
clinical trials and core outcome sets, complicating data aggregation and
comparison, and therefore further underscoring the need for a core PRO(M)
set for GID. At first, one might assume that this wide range of PROs reflects
the heterogeneity of the GID population. This heterogeneity may include, for
example, sleep problems commonly observed in Smith–Magenis syndrome
and Parkinson’s disease in individuals with 22q11.2 deletion syndrome
(8, 9). However, substantial overlap was observed among the identified
PROs. This overlap arose from the use of multiple terms to describe the
same construct (e.g., ‘communication’ and ‘speech’) and the inclusion of
multidimensional PROs (e.g., ‘anxiety and depressive symptoms’). The
qualitative study further identified PROs from the perspective of affected
individuals, caregivers, and clinical experts, highlighting PROs across all
health domains, with particular emphasis on mental functioning. After
identifying potentially relevant PROs, PROs were integrated and discussed
with an expert group, and then prioritized by key stakeholders through a
Delphi study and consensus meetings. This resulted in the final core PRO
set for GID (10).
Second, existing PROMs were often lengthy and complex, posing a burden
on affected individuals and their caregivers (11), and hindering their use,
particularly among those with ID. For example, the CBCL, often completed
by caregivers of children with GID, includes 113 items. Similarly, the Anxiety,
Depression, and Mood Scale (ADAMS), completed by caregivers of adults
with GID, comprises 28 items, only assessing mental functioning. It is also
unclear whether these questionnaires are PROMs or observer reported
outcome measures (ObsROMs). ObsROMs measure observable signs,
events, or behaviors related to the person’s health (12), and such items
are also included in these two questionnaires. To minimize the number of
items, we selected a concise core PROM set, primarily including PROMIS
210