Page 172 - Let them speak Towards a patient reported outcome measure set for

Chapter 7
Introduction
Individuals with intellectual disabilities (ID) represent 1 – 3% of the population
(1, 2). A genetic or other cause is now identifiable in nearly half of these
cases (3). The impact of ID with or without a genetic cause – henceforth
collectively referred to as (genetic) ID (GenID) - can be significant. Affected
individuals often face substantial challenges in their daily life due to the
diverse physical and neuropsychiatric manifestations of GenID (e.g., motor
problems, cognitive impairments, or autism), that may lead to difficulties
with performing activities, and participating in society (4, 5).
Patient reported outcomes (PROs), such as anxiety, fatigue, or social
functioning, provide valuable insights into these challenges from the patients’
perspective. PRO measures (PROMs) are standardized questionnaires
assessing PROs which may be valuable for both clinical care and research
(6). PROMs are completed by patients or proxies, such as caregivers, on
their behalf. PROMs can be condition-specific, measuring health constructs
only relevant to patients with a specific condition, or generic, measuring
health constructs relevant to a broad range of conditions or the general
population (7). In clinical care, PROMs can help healthcare professionals
to monitor patient functioning, identify problems, and guide treatment (8).
In research, PROMs can be used to understand condition trajectories and
evaluate treatment efficacy (9). In clinical trials involving individuals with
GenID, they are similarly used to evaluate treatment effects. For example,
the Child Health Questionnaire, a generic PROM, has been applied in a
trial involving girls with Rett syndrome to assess quality of life (10). The
TSC-PROM, a condition-specific questionnaire, was recently developed to
measure the impact of tuberous sclerosis complex (TSC) on health and
daily functioning in both clinical care and research (11).
Despite its promising value, using PROMs for GenID presents several
challenges. First, the wide variety of PROMs used for GenID complicates
the comparison and synthesis of PRO data. This was shown by our recent
review in which over 200 different PROMs were identified across clinical
trials in GenID (12). Second, it is unclear whether these PROMs capture
the most relevant PROs for individuals with GenID. Third, PROMs can
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