Page 62 - Let them speak Towards a patient reported outcome measure set for

Chapter 3
representatives and experts of the European Reference Network on
Intellectual Disability, TeleHealth and Congenital Anomalies (ERN-ITHACA),
which is a patient-centered network that is established with the goal of
improving collaboration on rare neurodevelopmental disorders, both with
and without biological diagnosis. Throughout this study, individuals with GID
and their caregivers will be actively engaged and included where feasible
and relevant. Individuals with ID without known genetic etiology will also be
included within this study, since they exhibit overlapping comorbidities with
GID. They will be subsumed under the term GID.
Conceptual framework
PROs will be classified within a conceptual framework (Table 1), based on
the model of Valderas and Alonso (25) (combination of the classification
model by Wilson and Cleary (37) and the International Classification of
Functioning, Disability and Health (ICF) (38)), and the Patient Reported
Outcomes Measurement Information System (PROMIS) (39). This model is
further refined during expert meetings regarding PRO(M)s in the Netherlands
(35). A PRO domain represents an overarching PRO (e.g., physical
functioning), and a PRO subdomain represents a PRO that falls under a
PRO domain (e.g., mobility). Each symptom (e.g., pain) represents its own a
PRO domain. The PRO conceptualization represents the description of the
content of a PRO (e.g., ability to perform daily activities). Describing PROs
in as much detail as possible before selecting PROMs is essential (40). This
conceptual framework should enable the classification of all PROs for GID.
Table 1. Conceptual framework.
PRO domain PRO subdomain PRO
conceptualization
Overarching Quality of life
Perceived health
Functioning Physical functioning
Social functioning/
participation
Mental functioning
Symptoms
PRO, patient reported outcome.
PRO domain is an overarching PRO; PRO subdomain is a PRO within a PRO domain; PRO
conceptualization is the detailed description of the content of a PRO.
60