Transition services in 22q11 deletion syndrome: Hit or miss

Introduction

22q11 deletion syndrome (22q11DS) is a rare genetic condition and the most common microdeletion in humans. The symptomatology is broad and variable between individuals. It is usually diagnosed in childhood and requires a multidisciplinary lifelong approach including a structured transitional care process. This study therefore seeks to enrich our understanding of transitional care for individuals with 22q11DS by exploring the insights from healthcare professionals (HCPs) from Europe and Canada with multidisciplinary backgrounds.

Methods

This interview study was part of a larger mixed-methods research project, with the qualitative component concentrating on gathering insights from HCPs involved in patient care through semi-structured interviews. We conducted qualitative thematic analysis while focusing on transitional care within families caring for a child with 22q11DS from the perspective of HCPs.

Results

The 20 HCPs interviewed came from diverse professional backgrounds and all had clinical experience with 22q11DS. Our analysis of the data identified three primary themes. Our participants emphasized the inadequacy of the transitional care system, despite its critical importance. HCPs tried their best to overcome the challenges by relying on longer follow-up with their patients, with some even merging children and adult services. There was a shared desire among HCPs for a structured transitional care plan, better access to adult services for 22q11DS, and a more integrated, collaborative approach.

Conclusion

This study highlights the inadequacy of transitional care for individuals with 22q11DS and their families, showing a need to better align policies and clinical practice. Filling the gap between existing policies and the desired transitional care services is essential. The latter includes: an appropriate longitudinal transition plan, strong psychological support not only for the individual with 22q11DS but also for their family, a coordination system, and accessible adult services with expertise on 22q11DS.