Time poverty of families of children with 22q11DS: a healthcare professional perspective

Abstract Introduction 22q11 deletion syndrome (22q11DS) is the most common microdeletion in humans, leading to a wide range of variable clinical manifestations that can affect any part of the body. Most individuals with 22q11DS are diagnosed during childhood and the responsibility of care falls on their primary caregivers, usually their parents, who need to balance the needs of all family members including themselves. This affects parental wellbeing. This study investigates the perspective of healthcare professionals (HCPs), in Europe and Canada, on the parents’ struggle with time invested in caring for their children, factors contributing, the impact of this responsibility and some strategies on how to support the families. Methods This interview study was part of a larger research initiative aimed at improving the psychosocial well-being of individuals with 22q11DS and their families. The qualitative component concentrated on gathering insights from HCPs involved in patient care. We conducted qualitative content analysis after transcribing the semi-structured interviews. The research question focused on time poverty within families caring for a child with 22q11DS from the perspective of HCPs. Results The 20 HCPs interviewed came from diverse professional backgrounds, but all had clinical experience with children with 22q11DS. Our analysis of the data identified three primary themes, centered on time poverty of families caring for a child with 22q11DS. Centralization of care and insufficient coordination were the main modifiable reasons for the time struggle, affecting the families, especially mothers and families living in rural areas. Strategies proposed to mitigate this issue included improved coordination and decentralization of care, and digitalization. Conclusions Time poverty for families with a child with 22q11DS may result from fragmented and uncoordinated medical care, and centralized care disconnected from local care. Better communication between different HCPs, local and central, and a robust support system could enhance these families’ well-being and assure an equal distribution of care services without gender bias or exclusion of rural underserved populations.