Peer-reviewed article
'A Constant Battle for Services': Parents' Experiences on Healthcare Services for Children With 22q11 Deletion Syndrome.
Ayoub S, Meier S, Cytrynbaum C, Swillen A, Lingley-Pottie P et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study examined how parents experience healthcare services for children with 22q11 deletion syndrome, a rare genetic condition affecting multiple body systems. Researchers interviewed 40 parents from Canada and the United States about their experiences accessing care. Parents reported significant challenges including lack of specialist clinics, difficulty accessing information, geographic barriers to services, and insensitive language from healthcare providers. The study found that service quality depends heavily on individual provider support and that families face substantial administrative burden managing multiple medical consultations.
Key points
- Parents struggled to access multidisciplinary clinics and specialists for children with 22q11DS
- Access to services varied by geographic location, healthcare coverage, and availability of information
- Healthcare providers sometimes used harmful language when discussing the condition, affecting family acceptability of care
- Quality of services depended significantly on individual healthcare provider support rather than systematic provision
- Families faced substantial administrative burden managing multiple medical consultations and services
Limitations
This study captures parental perceptions and experiences but does not measure clinical outcomes or service utilisation rates. The findings are based on interviews from families willing to participate, which may not represent all families managing 22q11DS.
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.