Page 43 - Let them speak Towards a patient reported outcome measure set for

Outcomes and instruments
ObsROs (n=4). The outcome measurement instruments used to measure
PROs, ClinROs, and ObsROs are reported in Supplementary materials B.
Instruments for PerfOs measured cognitive function and physical function
(Supplementary materials C). There were 18 condition-specific outcome
measurement instruments used in 30 (10%) clinical trials in total, including
instruments for Down syndrome, Prader-Willi syndrome, phenylketonuria,
mitochondrial disease, Rett syndrome, Fragile X syndrome, Niemann-Pick
disease type C, and phosphomannomutase deficiency congenital disorder
of glycosylation (Supplementary materials B). Two condition-specific
outcome measurement instruments were designed ad-hoc for the specific
trial.
2
The outcome measurement instruments classified as PROs, ClinROs, and
ObsROs were used as self-report (n=183, 22%), self-assisted report (n=7,
1%), proxy-report (n=327, 39%), observer-report (n=46, 6%), clinician-report
(n=132, 16%) or unclear (n=136, 16%). Within proxy-report, parent-report
was mentioned for 218 outcome measurements and teachers reported for
31 measurements (Supplementary materials B).
The instruments, classified according to the Valderas & Alonso model
(when applicable), revealed representation of all health domains: symptoms
(n=26, 5%), physical function (n=34, 7%), mental function (n=141, 29%),
social function (n=80, 17%), general health perceptions (n=16, 3%), (HR-)
QoL (n=23, 5%), and cognitive function including both performance-based
tests and rating scales (n=161, 33%).
Discussion
This scoping review is the first overview of the myriad of outcomes and
outcome measurement instruments used in clinical trials in GNDs and ID of
unknown cause. It provides insight into the large number of (often differently
reported) outcomes and measurement instruments. Cognitive function
was most frequently measured. The majority of instruments was used in
only one clinical trial. This review demonstrates the need for harmonization,
consensus on terminology, classification, and development of a core
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