Page 103 - Let them speak Towards a patient reported outcome measure set for

PROs emerging from focus groups and interviews
Background
Intellectual disabilities (ID) are characterized by significant limitations in
both intellectual and adaptive functioning, emerging prior to the age of
18 years (1). ID affects 1-3% of the general population, with about 50%
having an identified genetic cause (2-4). ID, with and without a genetic
cause, henceforward referred to as (genetic) ID ((G)ID), can profoundly
impact the daily lives of affected individuals and their families due to the
wide range of physical and neuropsychiatric manifestations inherent to
the often syndromic nature. These manifestations may include epilepsy,
tumour growth, attention-deficit hyperactivity disorder (ADHD), and autism
spectrum disorder (5-8). The severity and type of manifestations can be
highly variable within and between disorders. For example, individuals
with Tuberous Sclerosis Complex (TSC) exhibit a wide range of IQ levels
and tumour growth in various organ systems at different life stages (6, 9).
Psychosis is common in young adults with 22q11.2 deletion syndrome (10),
while obesity is often observed in individuals with Prader-Willi syndrome
and Chung-Janssen syndrome (11, 12). Despite the heterogeneous and
complex manifestations of (G)ID, affected individuals often face similar
challenges in their everyday lives, such as anxiety, sleeping problems,
difficulty performing daily activities, and participating in society (13-16).
Personalized care for individuals with (G)ID is increasingly available,
driven by recognition of their specific and complex healthcare needs (17).
Research involving these individuals is growing as well, leading to the
development of more targeted interventions (18), and as this research is
growing, the importance of measuring the patients’ perspective on their
health is becoming more widely recognized (19). To enhance care and
develop relevant interventions for individuals with (G)ID, measuring and
assessing relevant patient reported outcomes (PROs) is crucial (20, 21).
PROs are health aspects, such as anxiety or pain, reported directly by the
patient or a proxy (i.e., caregiver) without interference of a clinician or
someone else (22). PROs offer insight into the impact of a condition and its
treatment. Relevant PROs for patients, such as anxiety in those with Fragile
X syndrome and TSC (23, 24), can inform care, shape research priorities,
and influence policymaking in order to better reflect what matters most
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