Page 36 - Let them speak Towards a patient reported outcome measure set for

Chapter 2
network visualization, contributing to disambiguation. These included
Duchenne muscular dystrophy, retinitis pigmentosa, and Charcot-Marie-
Tooth disease (Supplemental Material Figure 2). Prior to excluding a
category, records were screened and checked to confirm exclusion criteria.
When for a specific trial both a research article and trial protocol from a
register were available, only the research article was included.
The application Rayyan was used for screening.35 Titles and abstracts
were independently screened for eligibility by six reviewers (AM, BdH, EB,
LB, MB, and AvE) who all screened one-sixth of the selected items, with a
subsample of 10% double-screening for interrater reliability. The proportion
of discrepancies in the double-screening varied from 0% to 5%, mainly
due to uncertainty about whether a specific disorder was associated with
intellectual impairments. Discrepancies were discussed until consensus was
reached. In case of uncertainty about whether the population met inclusion
criteria, an expert with regard to the specific condition was consulted. Full
texts were screened for eligibility, and data were independently reviewed
by seven reviewers (AM, BdH, EB, LB, MB, NvS, and AvE) with a sample of
10% double-reviewing for interrater reliability. Potential discrepancies were
solved through discussion.
Data extraction
The following data were extracted: title, year of publication, first author,
journal, countries of study, type of study, number of participants, GND/
neurometabolic disorder/heterogeneous ID of unknown cause (if
neurometabolic disorder, this category was used; GNDs and neurometabolic
disorders can overlap), diagnosis, patient characteristics (including
age, sex, severity of ID), design, duration of trial, randomization, blinding,
intervention, comparator used, type of COA, reported outcomes, outcome
measurement instruments and version, whether it concerned a condition-
specific or personalized outcome measure, type of report, number of
assessments, mode of data collection, setting, and involvement of patient/
parent perspectives regarding the choice of outcome measures. The
reported outcomes were classified according to the most commonly used
terms by the authors of the included studies. As for outcomes related to
behavior, the term ‘behavior’ was used when general behavior was reported
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