A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.

BACKGROUND

WAGR spectrum disorder (WSD) is a rare genetic condition classically characterized by Wilms tumor, Aniridia, Genitourinary abnormalities, and Range of developmental delay. Following our publication, the terminology has shifted from “syndrome” to “spectrum disorder” to better capture its phenotypic variability.1 While other multi-systemic features have been identified, there is a paucity of literature around how WSD impacts individuals and their families. To guide clinical management recommendations and development of outcome measures for WSD clinical studies, this study explored the lived experiences of children with WSD and their caregivers.

METHODS

Fourteen caregivers to 13 children with WSD participated in this two-part study, consisting of a survey that collected medical information for each child with WSD and semi-structured interviews that focused on how WSD impacts daily life. Survey data were analyzed using descriptive statistics. Interview data were analyzed using reflexive thematic analysis within a critical realism framework.

RESULTS

Aniridia was the most frequently reported health condition, although a broad range of co-occurring conditions exemplified clinical heterogeneity of WSD. Analysis of caregiver interviews generated five key themes: (1) uncertainty has a profound emotional impact on caregivers, (2) while the prospect of lifelong caregiving is stressful, caring for a child with WSD is rewarding, (3) partnerships between healthcare providers and families are critical, (4) three areas to prioritize for assessment in future WSD clinical studies include aniridia/vision, behavioral/psychiatric, and speech/communication conditions, and (5) the WSD community is a powerful support system.

CONCLUSIONS

This study offers valuable insight into the multifaceted impacts of WSD on individuals and their caregivers. Our findings highlight key therapeutic targets and opportunities to improve clinical care and support for the WSD community.