Page 141 - Let them speak Towards a patient reported outcome measure set for

Establishing the core PRO set
each PRO was discussed during the expert group meeting. If needed,
PROs were eliminated (e.g., duplicate or no PRO), and the classification
or conceptualisation of the PROs were adjusted. When uncertainty
remained during the expert group meeting regarding the classification
or conceptualisation of specific PROs, these cases were discussed with
another member of the research team (LH, PROM expert and psychologist)
and a wider research team with expertise in PROMs. This resulted in a clear
and well-defined set of PROs, the pilot generic core PRO set, and a list of
excluded PROs or other outcomes. Each PRO domain and PRO subdomain
was counted as an individual PRO.
International Delphi study
Participants
Adolescents (12 years or older) and adults with GID, caregivers, and experts
(i.e., international healthcare professionals and patient representatives)
could participate in the Delphi study. Affected individuals eligible for inclusion
had to have a diagnosis of GID or ID without known aetiology. Because GID
include individuals with rare genetic neurodevelopmental disorders, some
may have normal intellectual functioning. These participants were still eligible
to take part in the study. Additionally, affected individuals were required to
be proficient in reading and writing, as well as capable of reflecting on and
providing thoughtful responses to the PROs. Caregivers were eligible if they
provided care and support to an individual diagnosed with GID. Experts were
eligible if they had at least five years’ experience working with individuals
with GID or working for a patient organization dedicated to a specific GID
subgroup, and were required to be proficient in English. Participants of the
recent performed focus groups and interviews were contacted again if they
had given their consent. In addition, affected individuals and caregivers
were recruited through healthcare organizations (e.g., Amsterdam UMC
and ‘s Heeren Loo), social media, and patient organizations. Experts were
recruited through healthcare organizations (e.g., Amsterdam UMC and
‘s Heeren Loo), social media, and the European Reference Network on
Intellectual Disability, TeleHealth, Autism and Congenital Anomalies (ERN-
ITHACA), which is a patient-centred network focusing on specialized and
multidisciplinary care for individuals with rare malformation syndromes
and rare intellectual and other neurodevelopmental disorders. Interested
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