Page 102 - Let them speak Towards a patient reported outcome measure set for

Chapter 5
Abstract
Background To improve the quality of care and the impact of interventions
for individuals with (genetic) intellectual disabilities ((G)ID), it is essential
to identify and measure relevant patient reported outcomes (PROs), which
represent patient perspective on their health and functioning. Currently,
various, and potentially irrelevant PROs are being measured for individuals
with (G)ID. The aim of this study is to identify relevant PROs from the
perspective of different stakeholders, as one of the first steps towards
development of a meaningful PRO set for children and adults with (G)ID.
Methods A qualitative study was performed using focus groups and
interviews with individuals with (G)ID, caregivers, healthcare professionals
(HCPs) and European patient representatives. A focus group- and interview
guide was developed including two themes: the impact of (G)ID on daily life
and important topics to discuss with HCPs. Data collection took place until
data sufficiency was reached. All sessions were recorded and transcribed
verbatim. Transcripts were analysed by three researchers using a thematic
analysis approach. PROs were classified and conceptualized (i.e., describing
the content of each PRO in detail) within a conceptual framework.
Results Ten focus groups and 13 interviews were conducted with a total
of 51 participants. In total, seven adolescents and 10 adults with (G)
ID, 12 caregivers, 13 multidisciplinary HCPs and nine European patient
representatives participated. Data sufficiency was reached. PROs reported
by participants were related to all health domains including physical, mental,
and social functioning. Themes related to the negative impact of (G)ID were
prioritized for discussion during consultations.
Conclusions This study sheds light on relevant PROs for individuals with
(G)ID, marking one of the first steps in developing a meaningful PRO set
for (G)ID. Once established, this set will inform care, research agendas,
policymaking, and the development of a generic patient reported outcome
measure (PROM) set for (G)ID, improving care quality and research impact
for this complex and vulnerable population.
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