Page 28 - Let them speak Towards a patient reported outcome measure set for

Chapter 2
Abstract
Background Individuals with genetic neurodevelopmental disorders (GNDs)
or intellectual disability (ID) are often affected by complex neuropsychiatric
comorbidities. Targeted treatments are increasingly available, but due to
the heterogeneity of these patient populations, choosing a key outcome and
corresponding outcome measurement instrument remains challenging.
Objectives The aim of this scoping review was to describe the research on
outcomes and instruments used in clinical trials in GNDs and ID.
Eligibility Criteria Clinical trials in individuals with GNDs and ID for any
intervention over the past ten years were included in the review.
Sources of Evidence MEDLINE, PsycINFO, and Cochrane CENTRAL were
searched. Titles and abstracts were independently screened for eligibility
with a subsample of 10% double-screening for interrater reliability. Data
from full texts were independently reviewed. Discrepancies were discussed
until consensus was reached.
Charting Methods Information was recorded on patient populations,
interventions, designs, outcomes, measurement instruments, and type
of reporter when applicable. Qualitative and descriptive analyses were
performed.
Results We included 312 studies reporting 91 different outcomes, with
cognitive function most frequently measured (28%). Various outcome
measurement instruments (n=457) were used, with 288 in only a single
clinical trial. There were 18 genetic condition-specific instruments and 16
measures were designed ad-hoc for one particular trial. Types of report
included proxy-report (39%), self-report (22%), clinician-report (16%),
observer-report (6%), self-assisted report (1%), or unknown (16%).
26