Page 58 - Let them speak Towards a patient reported outcome measure set for

Chapter 3
Abstract
Introduction Rare genetic neurodevelopmental disorders and intellectual
disability (ID), collectively called genetic ID (GID), can profoundly impact daily
functioning and overall well-being of affected individuals. To improve our
understanding of the impact of GID and advancing both care and research,
measuring relevant patient reported outcomes (PROs) is crucial. Currently,
various PROs are measured for GID. Given the shared comorbidities across
disorders, we aim to develop a generic core PRO set for children and adults
with GID.
Methods and results Developing the generic core PRO set entails the
following steps: 1) providing an overview of potentially relevant PROs by
scoping reviews and qualitative research; 2) integrating and conceptualizing
these PROs (i.e., describing the content of the PROs in detail) into a pilot
generic core PRO set; and 3) prioritizing relevant PROs by a European Delphi
survey and consensus meetings.
Conclusions This protocol presents the steps for developing a generic core
PRO set for children and adults with GID. The next step involves selecting
suitable patient reported outcome measures (PROMs) to adequately
measure these PROs: the generic core PROM set. This generic core PROM
set needs validation in the GID population, and eventually implementation
in care and research, facilitating the aggregation and analysis of PRO data
and guaranteeing continuous integration of the patient perspective in both
care and research.
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