Page 64 - Let them speak Towards a patient reported outcome measure set for

Chapter 3
In our data extraction, only studies focusing on PROs and/or PROMs will
be included. Studies including individuals with inborn errors of metabolism
will be excluded, as these individuals lie outside the intended scope of
the generic core PRO set. The subsequent data will be extracted: PRO(s),
dimensionality PRO(s), PROM(s), type of PROM report (self-report or proxy-
report), and type of PROM (generic, condition-specific, or individualized).
PROs will be classified within the conceptual framework by the Study
Management Group.
Step 1.2: Scoping review; PROs included in COSs
In the scoping review, PROs included in COSs for specific rare genetic
neurodevelopmental disorders and/or ID will be identified. This review will
be performed according to methodology published in advance in the Open
Science Framework (OSF) (41).
MEDLINE (Ovid), PsycINFO, Embase, and the COMET database will be
searched. A list of GID will be composed using the human phenotype
ontology (HPO) database on https://hpo.jax.org/app/. All terms describing
a genetic disorder assigned to the subontology ID will be included.
Furthermore, a search strategy for ID of unknown cause will be used in
combination with terms for a COS.
Any type of COS development studies for individuals with a rare genetic
neurodevelopmental disorder or ID will be included. COS studies for
application in research studies, for the use in care and for the use of quality
assessment will be included. COS studies covering all types of interventions
will be included.
All titles and abstracts will be screened. Of the relevant articles, full texts will
be reviewed and the same data will be extracted as in step 1.1. PROs will
be classified within the conceptual framework by the Study Management
Group. The psychometric properties of the PROMs will be checked for
reliability and validity among individuals with GID.
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