Abstract
INTRODUCTION
22q11 deletion syndrome (22q11DS) is a rare disease with a neurodevelopmental component, and the most common microdeletion in humans, that affects many systems. The diagnosis is most often made in childhood. Parents may experience a high burden of care due to the multiple medical consultations and services needed.
AIMS
This study aimed to examine the parental perceptions of healthcare services for families of children with 22q11DS.
METHODS
This interview study was a component of a broader mixed-methods research project. The qualitative segment focused on insights from purposively selected families caring for children with 22q11DS, using semi-structured interviews. In this paper, we report our results, following the availability, accessibility, acceptability and quality (AAAQ) framework for humanitarian settings adapted to the 22q11DS context.
RESULTS
Interviews were conducted with 40 parents of children of various ages, from Europe, Canada and the United States of America. Regarding the availability theme, parents expressed concerns about the lack of multidisciplinary clinics and specialists. Accessibility to services depended on the location of the clinics, healthcare coverage, administrative burden and access to information. Acceptability was influenced by harmful language in healthcare around 22q11DS and the lack of services. The quality of available services depended on the support of healthcare providers.
DISCUSSION
This study examined healthcare service provision for children with 22q11DS using the AAAQ framework. It identified key challenges, including limited access to specialised, empathetic providers, a lack of caregiver support, and systemic issues such as unequal resource distribution and bureaucratic barriers. The framing of (ab)normality and inadequate language further hinders equitable care. Improving service quality requires continuous support, better access to information, and education.
LIVED EXPERIENCE OR PUBLIC CONTRIBUTION
Caregivers with lived experience participated in this study and shared perspectives that informed the interpretation of the findings. Representatives of patient organisations also provided valuable support and input.