Background
Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status. Currently, a myriad of potentially irrelevant PROs is being measured for individuals with GID. Therefore, the aim of this study is to identify the most relevant PROs through a Delphi survey and consensus meetings and develop a generic core PRO set applicable to the whole GID population to be used in care and research.
Methods
PROs, previously identified through a comprehensive literature review and a qualitative study, were integrated and conceptualised into a pilot generic core PRO set with an expert group. This pilot set was presented in a two-round Delphi survey with individuals with GID, caregivers and experts. Consensus was set at 60% or more of all participant groups rating a PRO as important for inclusion in the final core PRO set, or as not important for exclusion. The Delphi surveys were followed by two consensus meetings with individuals with GID, caregivers and experts to reach consensus on the undecided PROs.
Results
Twelve individuals with GID, 21 caregivers and 28 experts (total n?=?61) participated in the first Delphi round. Twenty-nine PROs were presented to the participants. In the first round, consensus was reached on one important PRO ‘fatigue’. In the second round, consensus was reached on 12 important PROs: fatigue, sleep, physical functioning/activities, quality of life, social functioning/participation, perceived health, cognitive functioning, depressive symptoms, mobility/functioning of the lower extremities, receptive communication, expressive communication and sensory overresponsivity. During the consensus meetings, consensus was reached on seven additional important PROs: pain, anxiety/stress, anger, vision, hearing, gastrointestinal symptoms and mental functioning. This resulted in a final generic core PRO set including the 19 PROs.
Conclusions
This study identified the most relevant PROs for GID, marking the final step in developing a generic core PRO set for the whole GID population. This GID core PRO set provides a framework to guide care, research and policymaking. The next step involves selecting and validating corresponding patient reported outcome measures (PROMs) to adequately measure these PROs: the GID core PROM set.
Rare genetic neurodevelopmental disorders and intellectual disability (ID), collectively called genetic ID (GID), can profoundly impact daily functioning and overall well-being of affected individuals. To improve our understanding of the impact of GID and advancing both care and research, measuring relevant patient reported outcomes (PROs) is crucial. Currently, various PROs are measured for GID. Given the shared comorbidities across disorders, we aim to develop a generic core PRO set for children and adults with GID.
ContributorsNadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen
Disease Category: Genetic disorders
Disease Name: Genetic intellectual disability
Age Range: 0 - 80
Sex: Either
Nature of Intervention: Any
- Clinical experts
- Consumers (caregivers)
- Consumers (patients)
- Families
- Methodologists
- Patient/ support group representatives
- Researchers
- COS Patient Reported Outcomes
- Consensus meeting
- Delphi process
- Focus group(s)
- Interview
- Literature review
Developing the generic core PRO set entails the following steps: 1) providing an overview of potentially relevant PROs by scoping reviews and qualitative research; 2) integrating and operationalizing these PROs (i.e. defining PROs in detail) into a pilot generic core PRO set; and 3) prioritizing relevant PROs by a European Delphi survey and consensus meetings.