Page 59 - Let them speak Towards a patient reported outcome measure set for

Protocol for developing a core PRO set
Background
Rare genetic neurodevelopmental disorders occur in about 1% of the
general population (1, 2). By European definition, disorders are classified as
‘rare’ when affecting less than one in 2000 individuals (3, 4). Rare genetic
neurodevelopmental disorders can be associated with intellectual disability
(ID) (5-7), which is defined as an IQ < 70 and affects up to 2.5% of the
population (8). With current techniques, a genetic or other biological etiology
can now be identified in about half of the individuals with ID. Genetic etiology
varies from point mutations in one of the more than 1500 ID-related genes
identified (9-11), to chromosomal copy number variants encompassing
multiple genes, short tandem repeat expansion, or other structural variation
to epigenetic anomalies. Rare genetic neurodevelopmental disorders and
ID, henceforth called together genetic ID (GID), often have a negative
impact on daily functioning and overall well-being of affected individuals
due to the wide spectrum of physical and neuropsychiatric manifestations
(12, 13). These manifestations may include pain, epilepsy, psychiatric
disorders such as autism spectrum disorder, and complex behaviors such
as self-injurious behavior and aggression (14-17). Due to these complex
manifestations, individuals often require lifelong support on all life domains,
including intensive medical and psychological care (18).
Understanding how the manifestations of GID affect daily functioning is
an important part of disease management and crucial for delivering the
best possible care for individuals with GID. To gain more insight into the
impact of GID on daily functioning, measuring relevant patient reported
outcomes (PROs) is essential. PROs refer to aspects of a patient’s health
status (e.g., pain, anxiety, or fatigue) that are directly reported by the patient
themselves or a proxy (e.g., caregiver), without interference of a clinician or
someone else (19). PROs can be multidimensional, encompassing multiple
PRO constructs (e.g., perceived health), or unidimensional, including only
one specific PRO construct (e.g., pain or anxiety). PROs can be measured
with patient reported outcome measures (PROMs) which are standardized
questionnaires completed by the patient or a proxy (e.g., caregiver) (20).
PROMs can be generic (i.e., measuring health concepts that are relevant to
a broad range of conditions or the general population, such as the Pediatric
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