Page 83 - Let them speak Towards a patient reported outcome measure set for

PROs used in clinical trials and core outcome sets
Background
An estimated 1-3% of the population is affected by intellectual disability
(ID), defined by significant impairments in intellectual functioning and
adaptive behavior, originating before the age of 18 years (1, 2). Current
techniques can now identify a genetic or other etiology in about half of the
affected individuals (3), with over 1500 ID related genes now identified (4).
Individuals with ID of known and unknown etiology, henceforth collectively
called genetic ID (GID), often exhibit complex physical and neuropsychiatric
problems, such as congenital physical abnormalities, epilepsy, and
psychiatric disorders such as autism spectrum disorders (5-7). These
clinical manifestations often occur together, with great variability within
and between disorders. The diverse and often severe manifestations of
GID can profoundly impact individuals’ daily lives, leading to physical and
mental symptoms, and difficulties in forming friendships and engaging in
activities (8-10).
Understanding how the clinical manifestations of GID impact daily life is
crucial for optimal and relevant care and research. To obtain a comprehensive
understanding of this impact on daily life, measuring relevant patient
reported outcomes (PROs) is essential. PROs represent the perspective of
patients on their health, without interference of a clinician or someone else
(11). PROs, such as pain or fatigue, are health outcomes directly reported
by the patient or by a proxy, such as a caregiver, on their behalf. PROs can
be multidimensional, including multiple PRO constructs (e.g., quality of life),
or unidimensional, including only one specific PRO construct (e.g., anxiety).
PROs provide valuable insights into how patients perceive the impact of
a condition, giving researchers and clinicians a deeper and more holistic
understanding of the condition. In addition, PROs can provide insight into
the impact of a specific treatment on an individual’s daily functioning,
showing benefits, but also revealing treatment-related side effects that may
not be detectable through other clinical outcomes alone (11). By measuring
and assessing PROs, the unmet care needs of individuals with GID can be
better identified, which not only assists in providing optimal care, but also
in prioritizing research areas and guideline activities (12).
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