Medical, welfare, and educational challenges and psychological distress in parents caring for an individual with 22q11.2 deletion syndrome: A cross‐sectional survey in Japan

Abstract

Parents of children with 22q11.2 deletion syndrome (22q11DS) experience distress not only due to multimorbidity in the patients, but also due to professionals' lack of understanding about 22q11DS and insufficient support systems. This study investigated relationships between medical, welfare, and educational challenges and parental psychological distress. A cross‐sectional survey was conducted on primary caregivers of children with 22q11DS. Participants included 125 parents (114 mothers, 91.2%; average age = 44.3 years) who reported their challenges, psychological distress, and child's comorbidities of 22q11DS. Results showed that the difficulty in going to multiple medical institutions (β = 0.181, p < 0.05) and lack of understanding by welfare staff and insufficient welfare support systems for 22q11DS (β = 0.220–0.316, all p < 0.05) were associated with parental psychological distress, even after adjusting for child's comorbidities. In the subsample of parents whose child attended an educational institution, inadequate management in classroom and mismatch between service and users in educational settings were associated with psychological distress (β = 0.222–0.296, all p < 0.05). This study reveals the importance of assessing not only severity of comorbidities in 22q11DS, but also the medical, welfare, and educational challenges for parental mental health.

Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome

“…Parental psychological discomfort was found to be linked to a greater overall number of issues in the medical and welfare fields [ 39 ]. The concerns of our patients seem to indicate that they also face many challenges, both of an individual and systemic nature.…”

“…This applies to relationships with spouse/partner, healthy children and members of the extended family. In a fairly obvious way, we are talking about the stress of parents associated with the child’s disorder in the first place [ 30 , 39 , 42 – 44 ]. In the study by Hallberg et al, many participants, particularly the mothers, had already been treated for or had been diagnosed with stress-related disease, including depression or unexplained physical pain [ 33 ].…”

Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services

“…A detailed description of the methodology of our primarily web‐based survey is available in our previous studies 14,15 . Briefly, this anonymous online questionnaire survey recorded the challenges and support needs related to medical care, education, and welfare services faced by those affected by 22q11DS.…”

“…It was developed based on previous literature and clinical guidance, 2,16–18 and with the assistance of two parents caring for an individual with 22q11DS. The final version of the survey questionnaire was divided into 10 domains, as described in detail in our previous study 15 . In this study, we used the data on parental demographics; patient demographics; lifetime diagnosis of comorbidities in individuals with 22q11DS; parental psychological distress; and various challenges faced in medical care, welfare, education services and in the coordination between them and other areas, including child–parent relationships and transition from child to adult medical care.…”

Educational challenges for 22q11.2 deletion syndrome in Japan: Findings from a mixed methods survey

“…A detailed description of the methodology for our web‐based survey is available from our previous studies (Morishima et al, 2021; Tamune et al, 2020). Briefly, an anonymous online questionnaire survey concerning the challenges and support needs related to medical care, education, and welfare services was developed based on previous literature and clinical guidance (e.g., Basset et al, 2011; Campbell et al, 2018; Fung et al, 2015; Habel et al, 2014) with inputs from the parents caring for an individual with 22q11DS.…”