Page 33 - Let them speak Towards a patient reported outcome measure set for

Outcomes and instruments
Box 1. continued
Definition Abbreviation Explanation
Proxy Generic outcome
measure
Condition-specific
outcome measures
Personalized
outcome measure
Someone who reports an outcome as if they were the
affected individual themselves. Proxies report on behalf
of the affected individual, in contrast to an observer-
report in which the informant provides information about
the manifestations and condition.
A measure for a health concept that is relevant to a
wide range of patient groups, enabling aggregation and
comparison across varied conditions and settings.
A measure capturing elements of health relevant to a
particular patient group or designed for a specific patient
population.
A measure that refers to an instrument in which the
domains and/or weights are not fixed. Outcome
areas are specific for each individual and the affected
individual (or proxy) is involved in identifying and setting
specific outcome areas. In clinical trials, these are
intended for standardized evaluation of an intervention’s
effectiveness based on individualized problems or goals.
2
*Adapted from the FDA.
Knowledge about the genetic etiology of GNDs rapidly increases and offers
disorder-specific treatment options which can be targeted to the gene,
protein, or downstream biological pathway.20 It allows for personalized
care, which is the implementation of etiology-drive health monitoring and
treatments.21 For neuropsychiatric manifestations, targeted treatments are
underway22–25 and guidelines are increasingly available.26
However, interventional research in GNDs and ID is challenging. This is due
to the rarity, complexity, and variability of health manifestations, even among
individuals with the same disorder, as well as the heterogeneity in treatment
response.27 Other hurdles in these populations include varying cognitive
and adaptive abilities, environmental factors, high rate of behavioral and
emotional disturbances, a lack of stability, practice effects, and lack of
consensus on the best measures within a particular construct.28 Many
outcomes have been measured in the past, but assessments of disease
severity using clinical rating scales omitted patient perspectives about
issues of relevance to their health. Deciding upon an appropriate outcome
measure can be a daunting task, taking into account the acceptability
and feasibility, and important measurement properties, such as validity,
reliability, and responsiveness to change.
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