What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.
Nadia Y van Silfhout, Maud M van Muilekom, Leonie A Menke and 3 others
PMID 41603520WHAT IT FOUND
A Delphi consensus with 61 people identified 19 patient-reported outcomes that matter most in genetic intellectual disabilities.
These cover fatigue, sleep, pain, mental health, and communication, providing a standard framework for clinicians and researchers to track what actually affects patients' lives.
Key findings
01The final core set includes 19 patient-reported outcomes, such as fatigue, sleep, pain, anxiety, and communication, agreed upon by individuals, caregivers, and experts.
02Fatigue was the only outcome to reach immediate consensus in the first round, highlighting it as a critical but often under-researched area in this population.
03Individuals with intellectual disabilities and caregivers were more selective in their ratings than experts, giving them the 'casting vote' in determining the final set.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
Participants were limited to individuals with GID who could read and write proficiently and reflect on their own health, potentially excluding those with severe or profound intellectual disabilities. The study relied on online surveys, which may have biased recruitment toward those with digital access and literacy. Caregivers and experts represented a small fraction of the over 1,500 known genetic intellectual disabilities, so the set may not capture condition-specific nuances. Dutch participants were more critical in their ratings than international experts, meaning the final set may reflect local perspectives more strongly than global ones.
Declared interests
The study was funded by the ForWis(h)dom Foundation and 's Heeren Loo. The funders had no role in the study design, data collection, analysis, or manuscript preparation.
The easy way to misread this
Do not assume these 19 outcomes are currently validated or ready for immediate clinical use. The paper states that the next step is to select and validate appropriate measurement tools (PROMs) for these outcomes, meaning the framework is established but the instruments are not yet finalized.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →