COMET Initiative | Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review

Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review

Background
The impact of genetic intellectual disability (GID) on daily life is significant. To better understand the impact of GID, it is essential to measure relevant patient reported outcomes (PROs). The aim of this study is to provide an overview of PROs used for individuals with GID, laying the groundwork for a future generic core PRO set for GID.

Methods
To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed.

Results
In the first scoping review, 66 different PROs were identified. In the second scoping review, 22 different PROs were identified. After integrating PROs, 18 unique PROs remained, which were classified into a conceptual framework. Most frequently reported PROs were quality of life, perceived health, cognitive functioning, anxiety/stress, and depressive symptoms.

Conclusion
This study provides an overview of PROs used for individuals with GID. These results will assist in developing a generic core PRO set for GID, to harmonize PROs used in care and research.

Contributors

Nadia Y. van Silfhout, Maud M. van Muilekom, Clara D. van Karnebeek, Joost G. Daams, Lotte Haverman & Agnies M. van Eeghen

Publication

Journal: Journal of Neurodevelopmental Disorders
Volume: 17
Issue: 43
Pages: -
Year: 2025
DOI: 10.1186/s11689-025-09633-5

Further Study Information

Current Stage: Completed
Date:
Funding source(s): This research project was funded by the ForWis(h)dom foundation and ‘s Heeren Loo. They have no role in the conceptualization, design, data collection, analysis, decision to publish, or preparation of the manuscript.

Health Area

Disease Category: Neurology

Disease Name: Genetic intellectual disability

Target Population

Age Range: Unknown

Sex: Either

Nature of Intervention: Any

Stakeholders Involved

Study Type

- Systematic review of outcomes measured in trials

Method(s)

- Literature review

To identify PROs used for individuals with GID, results of two literature reviews were integrated; (1) PROs extracted from a scoping review on outcomes in clinical trials, and (2) PROs identified from a scoping review on core outcome sets (COSs) for specific GIDs through a search in MEDLINE (Ovid), PsycINFO, Embase, and the COMET database. Descriptive analyses were performed.