Page 35 - Let them speak Towards a patient reported outcome measure set for

Outcomes and instruments
affecting the nervous system in early development. GNDs associated with
ID were included (Figure 1). ID was defined as substantial limitations in
both intellectual functioning and adaptive behavior, originating during
the developmental period.1 Neurometabolic disorders, consisting of a
subgroup of rare genetic hereditary conditions in which the impairment
of a biochemical pathway is essential to the pathophysiology of the
disease,34 were included in case they are associated or presented with
intellectual deficits/impairment. Studies were included when a participant
showed intellectual impairments. Exclusion criteria included ID explicitly
stated to be due to exogenous factors.
Studies were included if these used a COA, that is, a PRO, ClinRO, ObsRO,
or PerfO, with regard to at least one domain of interest (Box 1; Figure 1).
Condition-specific and personalized outcome measures were included
as well (Box 1). Biological and physiological variables were excluded.
Clinical trials with only epilepsy characteristics or motor function as
outcome without another COA about mental or social functioning, general
health perceptions, or HR-QoL were excluded to narrow the scope of the
review. Eligible assessments included descriptions related to neurological
functioning, mental and social functioning, and general health perceptions
or HR-QoL.
Search strategy, study selection
MEDLINE (Ovid), PsycINFO, and Cochrane CENTRAL were searched from
2012 to 2022, with assistance of a clinical research librarian (JGD). A list
of genetic disorders associated with ID was composed using the human
phenotype ontology (HPO) database on https://hpo.jax.org/app/. All terms
describing a genetic disease assigned to the subontology ID were included;
collectively the HPO-ID list of GNDs. Furthermore, a search strategy for ID
without known genetic etiology was used in combination with terms for
trials (https://osf.io/2zmxv/). A time limit of the last 10 years was applied
due to feasibility reasons and abundancy, and to identify the most recent
clinical trials, as the field of trials for rare diseases is emerging quickly.
Additional papers were identified by reference list checking. To enhance
precision of search results, VOSviewer was used to visually identify
potentially irrelevant terms eligible for exclusion with corresponding
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