Page 235 - Let them speak Towards a patient reported outcome measure set for

Summary
Rare genetic disorders and/or intellectual disabilities (ID), together referred
to as (genetic) ID (GID), affect approximately 1-3% of the population.
These conditions, including 22q11.2 deletion syndrome, Smith–Magenis
syndrome, and ID of unknown etiology, are often associated with complex
and severe physical and neuropsychiatric manifestations, such as
congenital heart disease, epilepsy, autism spectrum disorder, and attention-
deficit hyperactivity disorder. To gain greater insight into the impact of GID
on daily life, it is essential to measure patient reported outcomes (PROs).
PROs refer to health aspects (e.g., anxiety or fatigue) that are reported
directly by the patient. PROs are measured using questionnaires known as
patient reported outcome measures (PROMs), which are also completed by
the patient. If the patient is unable to do so independently, a caregiver, such
as a parent, completes the PROMs on their behalf.
PROMs are used in clinical care as well as in scientific research. In clinical
care, they support monitoring patient health, identifying problems, and
determining appropriate treatment. In scientific research, PROMs are
used to assess disease progression and effects of interventions from the
patient’s perspective. The Food and Drug Administration (FDA) and the
European Medicines Agency (EMA), together with patient organizations,
advocate for the integration of PRO data into drug development and
regulatory decision-making. PROMs are also increasingly incorporated into
rare disease registries, including those for GID, to comprehensively capture
the impact of these conditions and their treatments.
Although PROMs provide a valuable tool for individuals with GID, several
challenges regarding PRO and PROM use for this population still existed.
First, it was unclear which PROs were most relevant to individuals with GID.
Second, many PROMs were lengthy and complex, posing a completion
burden for individuals with GID and their caregivers. Third, PROMs had often
not been adequately psychometrically evaluated in the GID population.
Finally, PROMs were not yet routinely implemented in GID care, possibly
because of the challenges described above.
Therefore, this thesis aimed to address these challenges by establishing a
core PRO(M) set for children and adults with GID. Chapter 1 provided the
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