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Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative
Mirthe J Klein Haneveld1,2, Louise Cox1, Petri J C M Embregts3
1Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam Reproduction & Development, Amsterdam Public Health, Amsterdam, the Netherlands.
Insights
Parents of children with rare genetic neurodevelopmental disorders value proportionality and equality in healthcare decisions. Their lived experiences and collaborative input are crucial for developing effective clinical guidelines.
Area of Science:
- Medical Genetics
- Neurodevelopmental Disorders
- Healthcare Decision-Making
Background:
- Healthcare decisions for rare genetic neurodevelopmental disorders are complex and value-laden.
- Parents are central to decision-making for individuals with these conditions.
- Incorporating parental values into the GRADE Evidence-to-Decision framework is essential for guideline development.
Purpose of the Study:
- To explore parental values in healthcare decision-making for rare genetic neurodevelopmental disorders.
- To understand what matters to parents regarding healthcare decisions and the decision-making process.
Main Methods:
- Qualitative study involving 18 parents of individuals with 15 rare genetic conditions.
- Semi-structured interviews were conducted to gather data.
- Reflexive thematic analysis was used to identify key themes.
Main Results:
- Key values identified include proportionality (balancing harms and benefits, feasibility) and equality (inclusive, accessible, continuous healthcare).
- Decision-making was characterized as a collaborative process.
- Acknowledging parental knowledge, respecting autonomy, and providing support were crucial.
Conclusions:
- Findings support the Evidence-to-Decision framework's applicability for rare genetic neurodevelopmental disorders.
- Proportionality and equality are key criteria reflected in the framework.
- Practice implications include focusing on family impacts and integrating parental lived experiences into value judgments.
Background:
Healthcare decision-making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value-laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to incorporate their values into the GRADE Evidence-to-Decision framework used in guideline development.
Methods:
The aim of this qualitative study was to explore the values of parents of individuals with rare genetic neurodevelopmental disorders in healthcare decision-making. We explored what mattered to parents in relation to healthcare decisions and in the process of healthcare decision-making. Eighteen parents of individuals with 15 (ultra)rare genetic conditions participated in semi-structured interviews. Reflexive thematic analysis was used to generate themes from the data.
Results:
Important values for making healthcare decisions were proportionality, considering balancing harms against the need to treat and feasibility for the family, and equality, with a need for inclusive, accessible and continuous healthcare. The process of decision-making in healthcare was described as a collaborative effort, in which acknowledging parental knowledge and respecting and supporting autonomy were important themes.
Conclusions:
The findings support the applicability of the Evidence-to-Decision framework to guideline development for rare genetic neurodevelopmental disorders, as proportionality and equality are reflected in its criteria. Implications for practice include explicit attention to family-level impacts and incorporating lived experience of parents to inform value judgements. Healthcare decision-making was described as a collaborative process, with a need for support and space for parents to clarify and communicate their values.
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