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Health in Down syndrome: creating a conceptual model

S L Santoro^1,2, M J Cabrera¹, J P T Co^2,3

¹Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.

Journal of Intellectual Disability Research : JIDR

|January 17, 2023

Abstract

Background:

Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being.

Methods:

In 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS.

Results:

Feedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS.

Conclusion:

Health in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.

Keywords:

Down syndrome genetics health inequities mental health methodology in research quality of life

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