Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.
Mirthe J Klein Haneveld, Louise Cox, Petri J C M Embregts and 4 others
PMID 42571921WHAT IT FOUND
Parents of children with rare genetic conditions weigh a procedure's harm against its uncertain benefit and whether it fits family life.
They want their knowledge taken seriously, their child asked directly even when the child cannot answer, and care that continues into adulthood.
Key findings
01Parents judged whether an intervention was worth it by balancing its uncertain benefit against the harm it might do to their child and whether it was manageable in family life.
02Parents wanted their child treated as an equal, which for them meant inclusive, accessible and continuous care, and several described this breaking down, especially around the transition to adult care.
03Parents wanted their knowledge from caring for their child acknowledged as expertise, and wanted their child asked directly and supported to express a view, which they saw as something done with others rather than alone.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
Only 18 parents were interviewed, all recruited through patient associations in the Netherlands, and the authors describe the findings as an interpretation of shared meanings rather than a representative or exhaustive account. Recruitment by poster and email probably shut out parents with low literacy or limited digital skills, and those barriers often sit alongside socio-economic and cultural differences that could change how parents experience equality in care. Only parents were asked. People with intellectual disabilities may hold different views, and only one parent in the study had the condition themselves. The 18 families had 15 different conditions, so the shared themes may not describe any one condition well; parents' views on autonomy seemed to vary with the person's level of cognitive and adaptive functioning. The researchers did not check the themes back with participants, and say their own views on values and guideline development shaped how they interpreted the interviews.
Declared interests
The project was funded by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), and ERN-ITHACA is itself funded by the EU4Health programme of the European Union under grant 101156387. The authors declare no conflicts of interest. The study was set up to feed into guideline development, specifically the guidelines produced by the same network that funded it.
The easy way to misread this
Do not read this as evidence that any treatment, programme or way of communicating works. No intervention was tested and no outcomes were measured. These are the accounts of 18 Dutch parents recruited through patient associations, and the authors themselves say the findings are not intended to be representative.
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 →