Patient and carer priorities for research and clinical care of children with Down syndrome.

OBJECTIVES

Down syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.

DESIGN

A modified James Lind Alliance method was used. A first online survey generated ideas, which were collated, and a longlist was created. A second online survey prioritised the longlist. This was done for clinicians and patient and carers separately. A single consensus meeting was held with carers, and a final consensus list of top 10 patient and carer priorities emerged. The surveys were developed in Qualtrics, a survey research platform. Patient and carers were invited to participate through poster advertising and social media posts. National consumer organisations were approached. Clinicians were invited through email and via Twitter.

SETTING

Online with a single in-person consensus meeting.

RESULTS

339 research ideas were submitted from 117 patient and carers and 89 clinicians in the idea-generating survey. These were consolidated into 20 research ideas/themes for the separate patient and carer and clinician prioritisation surveys. 85 patient and carer responses and 98 clinician responses were received to the prioritisation survey. The consensus meeting produced the final 10 patient and carer research priorities. The top two priorities were as follows: (1) developing a gold standard model of care including screening health checks across all levels of care and (2) sleep quality (including obstructive sleep apnoea, snoring, breathing problems and circadian rhythm).

CONCLUSIONS

This study has given patient and carers the opportunity to determine a patient and carer priority list for clinical care and research for children with Down syndrome.