Participatory development of a patient-clinician communication tool to enhance healthcare transitions for young people with 22q11.2

Background: Individuals with the rare genetic disorder, 22q11.2 deletion syndrome (22q11.2ds), face particular challenges with transition from paediatric to adult health services due to complex physical and mental health care needs, often further complicated by intellectual disability (ID). To date, the lived experience of these young people navigating this complex journey has not been well researched.

Aim: The project sought to understand the lived experiences of young women with 22q11.2ds transitioning from child to adult health services and to elicit recommendations for improvement.

Methods: Following ethical approval, six female participants, aged 19-35 years, were recruited through the family support organisation 22q11 Ireland. Adhering to participatory action research (PAR) principles, four full day sessions using creative research methodologies were conducted over a 4-month period.

Results: Participants reported significant difficulties navigating transition between and within clinical services, and reported a lack of information transfer between healthcare services which required multiple retelling of their story. They expressed a low sense of confidence in new healthcare providers and reported ambivalence regarding their own agency and ability to manage clinical appointments without family or 'keyworker' support. Participants co-designed a patient-clinician communication tool to assist in information transfer and to capture salient features of any healthcare consultation.

Conclusions: There is a recognised need to strengthen transition pathways. This is especially true in this at risk group, given the poorer outcomes associated with transitions in youth with ID along with the additive effect of medical and mental health and learning difficulties that often co-occur in 22q11.2ds. A patient-clinician communication tool, designed by participants, offers a pragmatic approach to optimise healthcare transitions, support continuity of healthcare and personal autonomy.